##fileformat=VCFv4.1 ##GeneratedBy=SureCall2.0 Snppet ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##FORMAT= ##FORMAT= ##FORMAT= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Paciente_3751_26_Mayo_17 chr1 981087 . A G 114.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,13,1;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||AGRN|mRNA|CODING|NM_001305275|),INTRON(MODIFIER||||AGRN|mRNA|CODING|NM_198576|);SEL_PRIMARY_EFF=0;Gene_Description=991499;OMIM_ID=OMIM:103320;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 981931 rs2465128 A G 114.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,7,8;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S1022|AGRN|mRNA|CODING|NM_001305275|NM_001305275.ex.18),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S1022|AGRN|mRNA|CODING|NM_198576|NM_198576.ex.18);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2023(A);HGVS=(,,),(NC_000001.10:g.981931A>G,NM_198576.3:c.3066A>G,LRG_198p1:p.Ser1022//\&);Mutation_cds_syntax=c.3066A>G;Mutation_AA_syntax=p.S1022S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=14.29,2.02,50.0;Tumour_Site_(cosmic)=prostate,large_intestine,thyroid;HGVS_Syntax(COSMIC)=c.3066A>Gp.S1022S;Gene_Description=991499;OMIM_ID=OMIM:103320;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 982941 . T C 114.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,8,2;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||AGRN|mRNA|CODING|NM_001305275|),INTRON(MODIFIER||||AGRN|mRNA|CODING|NM_198576|);SEL_PRIMARY_EFF=0;Gene_Description=991499;OMIM_ID=OMIM:103320;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 982994 rs10267 T C 117.0 PASS ALTCOUNT=18;DP=18.0;DP4=1,0,12,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F1186|AGRN|mRNA|CODING|NM_001305275|NM_001305275.ex.21),SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F1186|AGRN|mRNA|CODING|NM_198576|NM_198576.ex.21);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1641(T);HGVS=(,,),(NC_000001.10:g.982994T>C,NM_198576.3:c.3558T>C,LRG_198p1:p.Phe1186//\&);Mutation_cds_syntax=c.3558T>C;Mutation_AA_syntax=p.F1186F;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=25.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.3558T>Cp.F1186F;Gene_Description=991499;OMIM_ID=OMIM:103320;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 987200 rs9803031 C T 117.0 PASS ALTCOUNT=20;DP=20.0;DP4=1,0,6,14;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||AGRN|mRNA|CODING|NM_001305275|),INTRON(MODIFIER||||AGRN|mRNA|CODING|NM_198576|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2113(C);HGVS=(,,),(NC_000001.10:g.987200C>T,NM_198576.3:c.5651+5C>T,);Gene_Description=991499;OMIM_ID=OMIM:103320;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 989207 rs74685771 G C 255.0 PASS ALTCOUNT=10;DP=14.0;DP4=2,3,4,6;AF1=0.71428573;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=O00468;dbnsfpInterpro_domain=Concanavalin_A-like_lectin/glucanase_(1),Concanavalin_A-like_lectin/glucanase,_subgroup_(1),Laminin_G_domain_(2),Laminin_G,_subdomain_1_(1),;dbnsfpEnsembl_transcriptid=ENST00000379370,ENST00000379364;dbnsfpSIFT_score=0.730000;dbnsfpGERP++_NR=3.95;dbnsfpGERP++_RS=-0.779;dbnsfp29way_logOdds=12.7066;dbnsfp1000Gp1_AF=0.0086996336996337;dbnsfp1000Gp1_AFR_AF=0.0;dbnsfp1000Gp1_EUR_AF=0.0;dbnsfp1000Gp1_AMR_AF=0.03591160220994475;dbnsfp1000Gp1_ASN_AF=0.01048951048951049;dbnsfpESP5400_AA_AF=0.001876;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S1909T|AGRN|mRNA|CODING|NM_198576|NM_198576.ex.34),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S1931T|AGRN|mRNA|CODING|NM_001305275|NM_001305275.ex.36);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Likely//\@benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0090(C);HGVS=(NC_000001.10:g.989207G>C,NM_198576.3:c.5726G>C,LRG_198p1:p.Ser1909Thr),(,,);Gene_Description=991499;OMIM_ID=OMIM:103320;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 990984 . G A 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,10,3;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=UTR_3_PRIME(MODIFIER||||AGRN|mRNA|CODING|NM_001305275|NM_001305275.ex.38),UTR_3_PRIME(MODIFIER||||AGRN|mRNA|CODING|NM_198576|NM_198576.ex.36);SEL_PRIMARY_EFF=0;Gene_Description=991499;OMIM_ID=OMIM:103320;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 1647778 . C G 255.0 PASS ALTCOUNT=11;DP=20.0;DP4=7,3,6,5;AF1=0.55;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313896|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313982|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_024011|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_033529|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132739|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132740|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001291345|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001787|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033486|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033489|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|);SEL_PRIMARY_EFF=0;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1647814 . T C 255.0 PASS ALTCOUNT=17;DP=40.0;DP4=13,11,10,7;AF1=0.425;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000341028;dbnsfpSIFT_score=0.020000;dbnsfpGERP++_NR=4.56;dbnsfpGERP++_RS=0.358;dbnsfp29way_logOdds=12.4983;dbnsfp1000Gp1_AF=0.5;dbnsfp1000Gp1_AFR_AF=0.5;dbnsfp1000Gp1_EUR_AF=0.5;dbnsfp1000Gp1_AMR_AF=0.5;dbnsfp1000Gp1_ASN_AF=0.5;dbnsfpESP5400_AA_AF=0.446256;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E119|CDK11B|mRNA|CODING|NM_033489|NM_033489.ex.6),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E143|CDK11A|mRNA|CODING|NM_001313896|NM_001313896.ex.5),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E143|CDK11A|mRNA|CODING|NM_001313982|NM_001313982.ex.5),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E143|CDK11A|mRNA|CODING|NM_033529|NM_033529.ex.5),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E143|CDK11B|mRNA|CODING|NM_001291345|NM_001291345.ex.5),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E153|CDK11A|mRNA|CODING|NM_024011|NM_024011.ex.5),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E153|CDK11B|mRNA|CODING|NM_001787|NM_001787.ex.5),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E153|CDK11B|mRNA|CODING|NM_033486|NM_033486.ex.5),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E260|CDK11A|mRNA|CODING|NR_132739|NR_132739.ex.5),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E260|CDK11A|mRNA|CODING|NR_132740|NR_132740.ex.5),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|NM_033487.ex.5),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|NM_033490.ex.5);SEL_PRIMARY_EFF=0;Gene_Description=1655859,1656004;OMIM_ID=OMIM:176873;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1647871 . T C 255.0 PASS ALTCOUNT=25;DP=45.0;DP4=12,9,17,8;AF1=0.5555556;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R100|CDK11B|mRNA|CODING|NM_033489|NM_033489.ex.6),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R124|CDK11A|mRNA|CODING|NM_001313896|NM_001313896.ex.5),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R124|CDK11A|mRNA|CODING|NM_001313982|NM_001313982.ex.5),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R124|CDK11A|mRNA|CODING|NM_033529|NM_033529.ex.5),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R124|CDK11B|mRNA|CODING|NM_001291345|NM_001291345.ex.5),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R134|CDK11A|mRNA|CODING|NM_024011|NM_024011.ex.5),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R134|CDK11B|mRNA|CODING|NM_001787|NM_001787.ex.5),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R134|CDK11B|mRNA|CODING|NM_033486|NM_033486.ex.5),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R241|CDK11A|mRNA|CODING|NR_132739|NR_132739.ex.5),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R241|CDK11A|mRNA|CODING|NR_132740|NR_132740.ex.5),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|NM_033487.ex.5),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|NM_033490.ex.5);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.372A>G;Mutation_AA_syntax=p.R124R;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=33.33;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.372A>Gp.R124R;Gene_Description=1655859,1656004;OMIM_ID=OMIM:176873;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1647893 . C CTTTCTT 255.0 Pass ALTCOUNT=025;DP=53;DP4=26,26,15,10;STDP4=53,0,25,0;AF1=0.4716981;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=CODON_INSERTION(MODERATE||-/AAGAAA|-117KK|CDK11A|mRNA|CODING|NM_001313896|NM_001313896.ex.5),CODON_INSERTION(MODERATE||-/AAGAAA|-117KK|CDK11A|mRNA|CODING|NM_001313982|NM_001313982.ex.5),CODON_INSERTION(MODERATE||-/AAGAAA|-117KK|CDK11A|mRNA|CODING|NM_033529|NM_033529.ex.5),CODON_INSERTION(MODERATE||-/AAGAAA|-117KK|CDK11B|mRNA|CODING|NM_001291345|NM_001291345.ex.5),CODON_INSERTION(MODERATE||-/AAGAAA|-127KK|CDK11A|mRNA|CODING|NM_024011|NM_024011.ex.5),CODON_INSERTION(MODERATE||-/AAGAAA|-127KK|CDK11B|mRNA|CODING|NM_001787|NM_001787.ex.5),CODON_INSERTION(MODERATE||-/AAGAAA|-127KK|CDK11B|mRNA|CODING|NM_033486|NM_033486.ex.5),CODON_INSERTION(MODERATE||-/AAGAAA|-234KK|CDK11A|mRNA|CODING|NR_132739|NR_132739.ex.5),CODON_INSERTION(MODERATE||-/AAGAAA|-234KK|CDK11A|mRNA|CODING|NR_132740|NR_132740.ex.5),CODON_INSERTION(MODERATE||-/AAGAAA|-93KK|CDK11B|mRNA|CODING|NM_033489|NM_033489.ex.6),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|NM_033487.ex.5),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|NM_033490.ex.5);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.349_350insAAGAAA,c.379_380insAAGAAA;Mutation_AA_syntax=p.E116_R117insKE,p.E128_R129insKE;Mutation_Description(COSMIC)=Insertion_In//\@frame;Frequency_(cosmic)=8.0,3.33;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.349_350insAAGAAAp.E116_R117insKE,c.379_380insAAGAAAp.E128_R129insKE;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,12,33:10 chr1 1647968 . C CAT 255.0 Pass ALTCOUNT=017;DP=22;DP4=1,20,2,15;STDP4=22,0,17,0;AF1=0.77272725;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313896|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313982|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_024011|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_033529|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132739|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132740|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001291345|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001787|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033486|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033489|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|);SEL_PRIMARY_EFF=0;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,8,11:10 chr1 1647971 . G A 255.0 PASS ALTCOUNT=12;DP=20.0;DP4=1,8,0,12;AF1=0.6;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313896|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313982|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_024011|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_033529|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132739|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132740|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001291345|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001787|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033486|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033489|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|);SEL_PRIMARY_EFF=0;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,0,0:10 chr1 1647990 . C T 255.0 PASS ALTCOUNT=10;DP=14.0;DP4=1,4,1,9;AF1=0.71428573;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313896|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313982|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_024011|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_033529|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132739|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132740|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001291345|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001787|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033486|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033489|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|);SEL_PRIMARY_EFF=0;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1650787 . T C 255.0 PASS ALTCOUNT=26;DP=59.0;DP4=21,13,13,13;AF1=0.44067797;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=B4E0M9,E7ESP2,Q9UQ88-2,Q5QPR4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000356200,ENST00000404249,ENST00000378638,ENST00000378630;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.87;dbnsfpGERP++_RS=4.87;dbnsfp29way_logOdds=12.4561;dbnsfp1000Gp1_AF=0.5004578754578755;dbnsfp1000Gp1_AFR_AF=0.5;dbnsfp1000Gp1_EUR_AF=0.5013192612137203;dbnsfp1000Gp1_AMR_AF=0.5;dbnsfp1000Gp1_ASN_AF=0.5;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313896|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313982|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_033529|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001291345|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H112R|CDK11A|mRNA|CODING|NM_024011|NM_024011.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H112R|CDK11B|mRNA|CODING|NM_001787|NM_001787.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H112R|CDK11B|mRNA|CODING|NM_033486|NM_033486.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H219R|CDK11A|mRNA|CODING|NR_132739|NR_132739.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H219R|CDK11A|mRNA|CODING|NR_132740|NR_132740.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H78R|CDK11B|mRNA|CODING|NM_033489|NM_033489.ex.5),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|NM_033487.ex.4),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|NM_033490.ex.4);SEL_PRIMARY_EFF=4;Mutation_cds_syntax=c.325+10A>G;Mutation_AA_syntax=p.?;Mutation_Description(COSMIC)=Unknown;Frequency_(cosmic)=92.0;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.325+10A>Gp.?;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1650797 . A G 255.0 PASS ALTCOUNT=25;DP=53.0;DP4=15,14,12,13;AF1=0.4716981;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=B4E0N4,Q5QPR3,Q9UQ88-4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000357760,ENST00000358779,ENST00000378633,ENST00000378635,ENST00000479362;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.87;dbnsfpGERP++_RS=4.87;dbnsfp29way_logOdds=12.4561;dbnsfp1000Gp1_AF=0.49954212454212454;dbnsfp1000Gp1_AFR_AF=0.5;dbnsfp1000Gp1_EUR_AF=0.49868073878627966;dbnsfp1000Gp1_AMR_AF=0.5;dbnsfp1000Gp1_ASN_AF=0.5;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W109R|CDK11A|mRNA|CODING|NM_001313896|NM_001313896.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W109R|CDK11A|mRNA|CODING|NM_001313982|NM_001313982.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W109R|CDK11A|mRNA|CODING|NM_033529|NM_033529.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W109R|CDK11B|mRNA|CODING|NM_001291345|NM_001291345.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C109R|CDK11A|mRNA|CODING|NM_024011|NM_024011.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C109R|CDK11B|mRNA|CODING|NM_001787|NM_001787.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C109R|CDK11B|mRNA|CODING|NM_033486|NM_033486.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C216R|CDK11A|mRNA|CODING|NR_132739|NR_132739.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C216R|CDK11A|mRNA|CODING|NR_132740|NR_132740.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C75R|CDK11B|mRNA|CODING|NM_033489|NM_033489.ex.5),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|NM_033487.ex.4),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|NM_033490.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.325T>C;Mutation_AA_syntax=p.W109R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=96.0,100.0;Tumour_Site_(cosmic)=upper_aerodigestive_tract,haematopoietic_and_lymphoid_tissue,prostate,ovary;HGVS_Syntax(COSMIC)=c.325T>Cp.W109R;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1650801 . T C 255.0 PASS ALTCOUNT=24;DP=67.0;DP4=26,18,13,11;AF1=0.35820895;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E107|CDK11A|mRNA|CODING|NM_001313896|NM_001313896.ex.4),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E107|CDK11A|mRNA|CODING|NM_001313982|NM_001313982.ex.4),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E107|CDK11A|mRNA|CODING|NM_024011|NM_024011.ex.4),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E107|CDK11A|mRNA|CODING|NM_033529|NM_033529.ex.4),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E107|CDK11B|mRNA|CODING|NM_001291345|NM_001291345.ex.4),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E107|CDK11B|mRNA|CODING|NM_001787|NM_001787.ex.4),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E107|CDK11B|mRNA|CODING|NM_033486|NM_033486.ex.4),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E214|CDK11A|mRNA|CODING|NR_132739|NR_132739.ex.4),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E214|CDK11A|mRNA|CODING|NR_132740|NR_132740.ex.4),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E73|CDK11B|mRNA|CODING|NM_033489|NM_033489.ex.5),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|NM_033487.ex.4),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|NM_033490.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.321A>G;Mutation_AA_syntax=p.E107E;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=4.0;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.321A>Gp.E107E;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1650807 . T C 255.0 PASS ALTCOUNT=15;DP=52.0;DP4=22,16,6,9;AF1=0.28846154;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R105|CDK11A|mRNA|CODING|NM_001313896|NM_001313896.ex.4),SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R105|CDK11A|mRNA|CODING|NM_001313982|NM_001313982.ex.4),SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R105|CDK11A|mRNA|CODING|NM_024011|NM_024011.ex.4),SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R105|CDK11A|mRNA|CODING|NM_033529|NM_033529.ex.4),SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R105|CDK11B|mRNA|CODING|NM_001291345|NM_001291345.ex.4),SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R105|CDK11B|mRNA|CODING|NM_001787|NM_001787.ex.4),SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R105|CDK11B|mRNA|CODING|NM_033486|NM_033486.ex.4),SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R212|CDK11A|mRNA|CODING|NR_132739|NR_132739.ex.4),SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R212|CDK11A|mRNA|CODING|NR_132740|NR_132740.ex.4),SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R71|CDK11B|mRNA|CODING|NM_033489|NM_033489.ex.5),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|NM_033487.ex.4),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|NM_033490.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.315A>G;Mutation_AA_syntax=p.R105R;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0,16.67;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.315A>Gp.R105R;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1650832 . A G 255.0 PASS ALTCOUNT=12;DP=42.0;DP4=13,18,7,5;AF1=0.2857143;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=B4E0M9,B4E0N4,E7ESP2,Q5QPR3,Q9UQ88-2,Q9UQ88-4,Q5QPR4,P21127-3,Q9UQ88,P21127-6,P21127-2;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000356200,ENST00000404249,ENST00000357760,ENST00000358779,ENST00000378633,ENST00000378638,ENST00000378630,ENST00000378635,ENST00000479362;dbnsfpSIFT_score=0.960000;dbnsfpGERP++_NR=5.05;dbnsfpGERP++_RS=4.12;dbnsfp29way_logOdds=9.0812;dbnsfp1000Gp1_AF=0.49954212454212454;dbnsfp1000Gp1_AFR_AF=0.5;dbnsfp1000Gp1_EUR_AF=0.49868073878627966;dbnsfp1000Gp1_AMR_AF=0.5;dbnsfp1000Gp1_ASN_AF=0.5;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V204A|CDK11A|mRNA|CODING|NR_132739|NR_132739.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V204A|CDK11A|mRNA|CODING|NR_132740|NR_132740.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V63A|CDK11B|mRNA|CODING|NM_033489|NM_033489.ex.5),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V97A|CDK11A|mRNA|CODING|NM_001313896|NM_001313896.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V97A|CDK11A|mRNA|CODING|NM_001313982|NM_001313982.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V97A|CDK11A|mRNA|CODING|NM_024011|NM_024011.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V97A|CDK11A|mRNA|CODING|NM_033529|NM_033529.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V97A|CDK11B|mRNA|CODING|NM_001291345|NM_001291345.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V97A|CDK11B|mRNA|CODING|NM_001787|NM_001787.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V97A|CDK11B|mRNA|CODING|NM_033486|NM_033486.ex.4),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|NM_033487.ex.4),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|NM_033490.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.290T>C;Mutation_AA_syntax=p.V97A;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=85.19,92.0;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.290T>Cp.V97A;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1650845 . G A 255.0 PASS ALTCOUNT=18;DP=52.0;DP4=19,16,6,12;AF1=0.34615386;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=B4E0M9,B4E0N4,E7ESP2,Q5QPR3,Q9UQ88-2,Q9UQ88-4,Q5QPR4,P21127-3,Q9UQ88,P21127-6,P21127-2;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000356200,ENST00000404249,ENST00000357760,ENST00000358779,ENST00000378633,ENST00000378638,ENST00000378630,ENST00000378635,ENST00000479362;dbnsfpSIFT_score=0.080000;dbnsfpGERP++_NR=5.3;dbnsfpGERP++_RS=5.3;dbnsfp29way_logOdds=17.9833;dbnsfp1000Gp1_AF=0.46474358974358976;dbnsfp1000Gp1_AFR_AF=0.4024390243902439;dbnsfp1000Gp1_EUR_AF=0.4920844327176781;dbnsfp1000Gp1_AMR_AF=0.48342541436464087;dbnsfp1000Gp1_ASN_AF=0.47027972027972026;dbnsfpESP5400_AA_AF=0.365372;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R200W|CDK11A|mRNA|CODING|NR_132739|NR_132739.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R200W|CDK11A|mRNA|CODING|NR_132740|NR_132740.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R59W|CDK11B|mRNA|CODING|NM_033489|NM_033489.ex.5),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R93W|CDK11A|mRNA|CODING|NM_001313896|NM_001313896.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R93W|CDK11A|mRNA|CODING|NM_001313982|NM_001313982.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R93W|CDK11A|mRNA|CODING|NM_024011|NM_024011.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R93W|CDK11A|mRNA|CODING|NM_033529|NM_033529.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R93W|CDK11B|mRNA|CODING|NM_001291345|NM_001291345.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R93W|CDK11B|mRNA|CODING|NM_001787|NM_001787.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R93W|CDK11B|mRNA|CODING|NM_033486|NM_033486.ex.4),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|NM_033487.ex.4),UTR_5_PRIME(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|NM_033490.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.277C>T;Mutation_AA_syntax=p.R93W;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=50.0,16.67;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.277C>Tp.R93W;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1650920 . G A 255.0 PASS ALTCOUNT=17;DP=39.0;DP4=9,14,3,14;AF1=0.43589744;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313896|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313982|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_024011|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_033529|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132739|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132740|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001291345|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001787|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033486|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033489|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|);SEL_PRIMARY_EFF=0;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1650939 . G A 255.0 PASS ALTCOUNT=14;DP=30.0;DP4=5,12,1,13;AF1=0.46666667;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313896|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313982|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_024011|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_033529|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132739|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132740|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001291345|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001787|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033486|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033489|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|);SEL_PRIMARY_EFF=0;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1650940 . G A 255.0 PASS ALTCOUNT=15;DP=34.0;DP4=7,13,1,14;AF1=0.44117647;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313896|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313982|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_024011|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_033529|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132739|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132740|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001291345|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001787|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033486|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033489|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|);SEL_PRIMARY_EFF=0;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 1650942 . A G 255.0 PASS ALTCOUNT=12;DP=32.0;DP4=6,15,0,12;AF1=0.375;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313896|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_001313982|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_024011|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NM_033529|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132739|),INTRON(MODIFIER||||CDK11A|mRNA|CODING|NR_132740|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001291345|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_001787|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033486|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033487|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033489|),INTRON(MODIFIER||||CDK11B|mRNA|CODING|NM_033490|);SEL_PRIMARY_EFF=0;Gene_Description=1655859,1656004;OMIM_ID=OMIM:116951;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,0,0:10 chr1 1956362 . G A 117.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,7,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||GABRD|mRNA|CODING|NM_000815|);SEL_PRIMARY_EFF=0;Gene_Description=1962192;OMIM_ID=OMIM:137163;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 1961408 . C T 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,11,0;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||GABRD|mRNA|CODING|NM_000815|);SEL_PRIMARY_EFF=0;Gene_Description=1962192;OMIM_ID=OMIM:137163;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 2340200 rs2494598 T C 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,11,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||RER1|mRNA|CODING|NM_007033|),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T97|PEX10|mRNA|CODING|NM_002617|NM_002617.ex.3),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T97|PEX10|mRNA|CODING|NM_153818|NM_153818.ex.3);SEL_PRIMARY_EFF=1;CLINICAL_SIGNIFICANCE=Likely//\@benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3011(T);HGVS=(,,),(,,),(NC_000001.10:g.2340200T>C,NM_153818.1:c.291A>G,NP_722540.1:p.Thr97//\&);Gene_Description=2344010;OMIM_ID=OMIM:602859;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 6579607 . C T 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,5,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||NOL9|mRNA|CODING|NM_024654|),START_GAINED(LOW||||PLEKHG5|mRNA|CODING|NM_198681|NM_198681.ex.1);SEL_PRIMARY_EFF=1;Gene_Description=6580121;OMIM_ID=OMIM:611101;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 7737799 . A G 255.0 PASS ALTCOUNT=11;DP=25.0;DP4=7,8,4,7;AF1=0.44;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CAMTA1|mRNA|CODING|NM_015215|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2914+6A>G;Mutation_AA_syntax=p.?;Mutation_Description(COSMIC)=Unknown;Frequency_(cosmic)=3.33;Tumour_Site_(cosmic)=biliary_tract;HGVS_Syntax(COSMIC)=c.2914+6A>Gp.?;Gene_Description=7829766;OMIM_ID=OMIM:611501;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 11087524 . G A 247.0 PASS ALTCOUNT=12;DP=45.0;DP4=24,10,4,8;AF1=0.26666668;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||TARDBP|mRNA|CODING|NM_007375|),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S493|MASP2|mRNA|CODING|NM_006610|NM_006610.ex.11);SEL_PRIMARY_EFF=1;Gene_Description=11107296;OMIM_ID=OMIM:605102;pValue=1.0E-247;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 11090916 . C A 255.0 PASS ALTCOUNT=12;DP=22.0;DP4=5,6,4,8;AF1=0.54545456;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=O00187;dbnsfpInterpro_domain=Complement_control_module_(2),Sushi/SCR/CCP_(3),;dbnsfpEnsembl_transcriptid=ENST00000400897;dbnsfpSIFT_score=0.040000;dbnsfpGERP++_NR=5.38;dbnsfpGERP++_RS=3.5;dbnsfp29way_logOdds=10.5831;dbnsfp1000Gp1_AF=0.6254578754578755;dbnsfp1000Gp1_AFR_AF=0.15040650406504066;dbnsfp1000Gp1_EUR_AF=0.8298153034300791;dbnsfp1000Gp1_AMR_AF=0.7458563535911602;dbnsfp1000Gp1_ASN_AF=0.6870629370629371;dbnsfpESP5400_AA_AF=0.267255;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D371Y|MASP2|mRNA|CODING|NM_006610|NM_006610.ex.9);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1111G>T;Mutation_AA_syntax=p.D371Y;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=100.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.1111G>Tp.D371Y;Gene_Description=11107296;OMIM_ID=OMIM:605102;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 11854457 rs4846051 G A 117.0 PASS ALTCOUNT=20;DP=20.0;DP4=1,0,13,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||C1orf167|mRNA|CODING|NM_001010881|),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F435|MTHFR|mRNA|CODING|NM_005957|NM_005957.ex.8);SEL_PRIMARY_EFF=1;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0970(G);HGVS=(,,),(NC_000001.10:g.11854457G>A,NM_005957.4:c.1305C>T,NP_005948.3:p.(//\&);Gene_Description=11866160;OMIM_ID=OMIM:607093;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 11854755 . G A 114.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,8,5;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||MTHFR|mRNA|CODING|NM_005957|);SEL_PRIMARY_EFF=0;Gene_Description=11866160;OMIM_ID=OMIM:607093;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 16354394 . C T 255.0 PASS ALTCOUNT=10;DP=28.0;DP4=13,6,3,7;AF1=0.35714287;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=E7EPH6,Q5T5Q4,P51800;dbnsfpInterpro_domain=Chloride_channel,_core_(2),;dbnsfpEnsembl_transcriptid=ENST00000375692,ENST00000420078,ENST00000439316,ENST00000331433;dbnsfpSIFT_score=0.850000;dbnsfpGERP++_NR=3.3;dbnsfpGERP++_RS=-2.47;dbnsfp29way_logOdds=9.3698;dbnsfp1000Gp1_AF=0.03891941391941392;dbnsfp1000Gp1_AFR_AF=0.042682926829268296;dbnsfp1000Gp1_EUR_AF=0.040897097625329816;dbnsfp1000Gp1_AMR_AF=0.0027624309392265192;dbnsfp1000Gp1_ASN_AF=0.055944055944055944;dbnsfpESP5400_AA_AF=0.033726;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A244V|CLCNKA|mRNA|CODING|NM_001257139|NM_001257139.ex.8),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A287V|CLCNKA|mRNA|CODING|NM_001042704|NM_001042704.ex.9),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A287V|CLCNKA|mRNA|CODING|NM_004070|NM_004070.ex.9);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.860C>T;Mutation_AA_syntax=p.A287V;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.860C>Tp.A287V;Gene_Description=16360545;OMIM_ID=OMIM:602024;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 16359052 . A G 114.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,3,13;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CLCNKA|mRNA|CODING|NM_001042704|),INTRON(MODIFIER||||CLCNKA|mRNA|CODING|NM_001257139|),INTRON(MODIFIER||||CLCNKA|mRNA|CODING|NM_004070|);SEL_PRIMARY_EFF=0;Gene_Description=16360545;OMIM_ID=OMIM:602024;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 16371067 . G T 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,5,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P51801;dbnsfpInterpro_domain=Chloride_channel,_core_(1),;dbnsfpEnsembl_transcriptid=ENST00000375679,ENST00000331579;dbnsfpSIFT_score=0.220000;dbnsfpGERP++_NR=4.08;dbnsfpGERP++_RS=3.16;dbnsfp29way_logOdds=6.1466;dbnsfp1000Gp1_AF=0.5966117216117216;dbnsfp1000Gp1_AFR_AF=0.2865853658536585;dbnsfp1000Gp1_EUR_AF=0.6662269129287599;dbnsfp1000Gp1_AMR_AF=0.6961325966850829;dbnsfp1000Gp1_ASN_AF=0.708041958041958;dbnsfpESP5400_AA_AF=0.304069;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cTc|R27L|CLCNKB|mRNA|CODING|NM_000085|NM_000085.ex.2),UPSTREAM(MODIFIER||||CLCNKB|mRNA|CODING|NM_001165945|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.80G>T;Mutation_AA_syntax=p.R27L;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=3.45;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.80G>Tp.R27L;Gene_Description=16383821;OMIM_ID=OMIM:602023;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 16373124 . A G 117.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,4,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S108|CLCNKB|mRNA|CODING|NM_000085|NM_000085.ex.4),UPSTREAM(MODIFIER||||CLCNKB|mRNA|CODING|NM_001165945|);SEL_PRIMARY_EFF=0;Gene_Description=16383821;OMIM_ID=OMIM:602023;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 16374994 . C T 255.0 PASS ALTCOUNT=10;DP=17.0;DP4=5,3,6,4;AF1=0.5882353;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CLCNKB|mRNA|CODING|NM_000085|),UPSTREAM(MODIFIER||||CLCNKB|mRNA|CODING|NM_001165945|);SEL_PRIMARY_EFF=0;Gene_Description=16383821;OMIM_ID=OMIM:602023;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 16375063 . C G 255.0 PASS ALTCOUNT=19;DP=23.0;DP4=1,4,9,10;AF1=0.82608694;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P51801;dbnsfpInterpro_domain=Chloride_channel,_core_(2),;dbnsfpEnsembl_transcriptid=ENST00000375679;dbnsfpSIFT_score=0.540000;dbnsfpGERP++_NR=4.67;dbnsfpGERP++_RS=2.71;dbnsfp29way_logOdds=10.1298;dbnsfp1000Gp1_AF=0.7197802197802198;dbnsfp1000Gp1_AFR_AF=0.43902439024390244;dbnsfp1000Gp1_EUR_AF=0.7612137203166227;dbnsfp1000Gp1_AMR_AF=0.7845303867403315;dbnsfp1000Gp1_ASN_AF=0.8653846153846154;dbnsfpESP5400_AA_AF=0.329053;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gGa|A214G|CLCNKB|mRNA|CODING|NM_000085|NM_000085.ex.7),UPSTREAM(MODIFIER||||CLCNKB|mRNA|CODING|NM_001165945|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.641C>G;Mutation_AA_syntax=p.A214G;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=92.0;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.641C>Gp.A214G;Gene_Description=16383821;OMIM_ID=OMIM:602023;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 16375064 . A C 255.0 PASS ALTCOUNT=18;DP=22.0;DP4=1,4,7,11;AF1=0.8181818;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcA/gcC|A214|CLCNKB|mRNA|CODING|NM_000085|NM_000085.ex.7),UPSTREAM(MODIFIER||||CLCNKB|mRNA|CODING|NM_001165945|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.642A>C;Mutation_AA_syntax=p.A214A;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=4.0;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.642A>Cp.A214A;Gene_Description=16383821;OMIM_ID=OMIM:602023;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 16376319 . T C 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,10,4;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C123|CLCNKB|mRNA|CODING|NM_001165945|NM_001165945.ex.3),SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C292|CLCNKB|mRNA|CODING|NM_000085|NM_000085.ex.10);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.876T>C,c.369T>C;Mutation_AA_syntax=p.C292C,p.C123C;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.876T>Cp.C292C,c.369T>Cp.C123C;Gene_Description=16383821;OMIM_ID=OMIM:602023;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 16380196 . T C 255.0 PASS ALTCOUNT=17;DP=31.0;DP4=6,9,9,8;AF1=0.5483871;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q5T5Q7,P51801;dbnsfpInterpro_domain=Cystathionine_beta-synthase,_core_(3),;dbnsfpEnsembl_transcriptid=ENST00000375668,ENST00000375679,ENST00000375667,ENST00000431772;dbnsfpSIFT_score=0.440000;dbnsfpGERP++_NR=4.59;dbnsfpGERP++_RS=-3.73;dbnsfp29way_logOdds=7.1107;dbnsfp1000Gp1_AF=0.8342490842490843;dbnsfp1000Gp1_AFR_AF=0.6117886178861789;dbnsfp1000Gp1_EUR_AF=0.9551451187335093;dbnsfp1000Gp1_AMR_AF=0.9171270718232044;dbnsfp1000Gp1_ASN_AF=0.8129370629370629;dbnsfpESP5400_AA_AF=0.708133;EFF=DOWNSTREAM(MODIFIER||||FAM131C|mRNA|CODING|NM_182623|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M393T|CLCNKB|mRNA|CODING|NM_001165945|NM_001165945.ex.9),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M562T|CLCNKB|mRNA|CODING|NM_000085|NM_000085.ex.16);SEL_PRIMARY_EFF=1;Gene_Description=16383821;OMIM_ID=OMIM:602023;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 16380243 . A G 255.0 PASS ALTCOUNT=10;DP=29.0;DP4=8,12,4,6;AF1=0.3448276;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q5T5Q7,P51801;dbnsfpInterpro_domain=Cystathionine_beta-synthase,_core_(3),;dbnsfpEnsembl_transcriptid=ENST00000375668,ENST00000375679,ENST00000375667,ENST00000431772;dbnsfpSIFT_score=0.460000;dbnsfpGERP++_NR=4.59;dbnsfpGERP++_RS=1.41;dbnsfp29way_logOdds=5.3044;dbnsfp1000Gp1_AF=0.7023809523809523;dbnsfp1000Gp1_AFR_AF=0.8150406504065041;dbnsfp1000Gp1_EUR_AF=0.604221635883905;dbnsfp1000Gp1_AMR_AF=0.5718232044198895;dbnsfp1000Gp1_ASN_AF=0.8181818181818182;dbnsfpESP5400_AA_AF=0.802033;EFF=DOWNSTREAM(MODIFIER||||FAM131C|mRNA|CODING|NM_182623|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K409E|CLCNKB|mRNA|CODING|NM_001165945|NM_001165945.ex.9),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K578E|CLCNKB|mRNA|CODING|NM_000085|NM_000085.ex.16);SEL_PRIMARY_EFF=1;Gene_Description=16383821;OMIM_ID=OMIM:602023;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 16383668 . T G 117.0 PASS ALTCOUNT=26;DP=26.0;DP4=1,0,16,10;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||FAM131C|mRNA|CODING|NM_182623|),UTR_3_PRIME(MODIFIER||||CLCNKB|mRNA|CODING|NM_000085|NM_000085.ex.20),UTR_3_PRIME(MODIFIER||||CLCNKB|mRNA|CODING|NM_001165945|NM_001165945.ex.13);SEL_PRIMARY_EFF=0;Gene_Description=16383821;OMIM_ID=;pValue=1.0E-117;Zygosity=HOM;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 16383742 . C G 255.0 PASS ALTCOUNT=12;DP=30.0;DP4=7,12,5,7;AF1=0.4;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000375668,ENST00000331579,ENST00000431772;dbnsfpSIFT_score=0.180000;dbnsfpGERP++_NR=3.2;dbnsfpGERP++_RS=2.26;dbnsfp29way_logOdds=6.6432;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||FAM131C|mRNA|CODING|NM_182623|),UTR_3_PRIME(MODIFIER||||CLCNKB|mRNA|CODING|NM_000085|NM_000085.ex.20),UTR_3_PRIME(MODIFIER||||CLCNKB|mRNA|CODING|NM_001165945|NM_001165945.ex.13);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.403C>G;Mutation_AA_syntax=p.P135A;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=100.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.403C>Gp.P135A;Gene_Description=16383821;OMIM_ID=;pValue=1.0E-255;Zygosity=HET;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 16464489 . C T 255.0 PASS ALTCOUNT=10;DP=19.0;DP4=6,4,7,3;AF1=0.5263158;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=B5A968,P29317;dbnsfpInterpro_domain=Fibronectin,_type_III_(4),Immunoglobulin-like_fold_(1),;dbnsfpEnsembl_transcriptid=ENST00000358432;dbnsfpSIFT_score=0.000000;dbnsfpGERP++_NR=4.97;dbnsfpGERP++_RS=2.1;dbnsfp29way_logOdds=8.7355;dbnsfp1000Gp1_AF=0.017857142857142856;dbnsfp1000Gp1_AFR_AF=0.0020325203252032522;dbnsfp1000Gp1_EUR_AF=0.0158311345646438;dbnsfp1000Gp1_AMR_AF=0.0718232044198895;dbnsfp1000Gp1_ASN_AF=0.0;dbnsfpESP5400_AA_AF=0.003745;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G391R|EPHA2|mRNA|CODING|NM_004431|NM_004431.ex.5);SEL_PRIMARY_EFF=0;Gene_Description=16482582;OMIM_ID=OMIM:176946;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 16475123 . C T 255.0 PASS ALTCOUNT=15;DP=31.0;DP4=11,6,9,6;AF1=0.48387095;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L191|EPHA2|mRNA|CODING|NM_004431|NM_004431.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=16482582;OMIM_ID=OMIM:176946;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 16475126 . C T 255.0 PASS ALTCOUNT=15;DP=27.0;DP4=8,5,8,7;AF1=0.5555556;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A190|EPHA2|mRNA|CODING|NM_004431|NM_004431.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.570G>A;Mutation_AA_syntax=p.A190A;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=prostate;HGVS_Syntax(COSMIC)=c.570G>Ap.A190A;Gene_Description=16482582;OMIM_ID=OMIM:176946;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 17023182 . C G 255.0 PASS ALTCOUNT=11;DP=12.0;DP4=1,1,3,8;AF1=0.9166667;MQ=38;IsKnownVariant=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGg/tCg|W561S|ESPNP|Non-coding_transcript|NON_CODING|NR_026567|NR_026567.ex.10);SEL_PRIMARY_EFF=0;Gene_Description=17046652;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 17023376 . C T 255.0 PASS ALTCOUNT=13;DP=39.0;DP4=12,15,4,9;AF1=0.33333334;MQ=39;IsKnownVariant=0;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S524|ESPNP|Non-coding_transcript|NON_CODING|NR_026567|NR_026567.ex.9);SEL_PRIMARY_EFF=0;Gene_Description=17046652;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 17314942 rs9435662 G A 255.0 PASS ALTCOUNT=10;DP=19.0;DP4=5,5,4,6;AF1=0.5263158;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G835|ATP13A2|mRNA|CODING|NM_001141974|NM_001141974.ex.23),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G874|ATP13A2|mRNA|CODING|NM_001141973|NM_001141973.ex.24),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G879|ATP13A2|mRNA|CODING|NM_022089|NM_022089.ex.24);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3387(A);HGVS=(,,),(,,),(NC_000001.10:g.17314942G>A,NM_022089.3:c.2637C>T,NP_071372.1:p.Gly879//\&);Mutation_cds_syntax=c.2505C>T,c.2637C>T;Mutation_AA_syntax=p.G835G,p.G879G;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=66.67,50.0,1.79,2.78;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,large_intestine;HGVS_Syntax(COSMIC)=c.2505C>Tp.G835G,c.2637C>Tp.G879G;Gene_Description=17338467;OMIM_ID=OMIM:610513;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 17359676 . C A 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,6,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||SDHB|mRNA|CODING|NM_003000|);SEL_PRIMARY_EFF=0;Gene_Description=17380665;OMIM_ID=OMIM:185470;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 19203997 . C G 117.0 PASS ALTCOUNT=26;DP=26.0;DP4=1,0,12,14;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcC|A290|ALDH4A1|mRNA|CODING|NM_001161504|NM_001161504.ex.10),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcC|A350|ALDH4A1|mRNA|CODING|NM_003748|NM_003748.ex.10),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcC|A350|ALDH4A1|mRNA|CODING|NM_170726|NM_170726.ex.10);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1050G>C;Mutation_AA_syntax=p.A350A;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=66.67,33.33,4.0;Tumour_Site_(cosmic)=thyroid,breast;HGVS_Syntax(COSMIC)=c.1050G>Cp.A350A;Gene_Description=19229293;OMIM_ID=OMIM:606811;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 19204154 . G A 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,2,15;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_001161504|),INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_003748|),INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_170726|);SEL_PRIMARY_EFF=0;Gene_Description=19229293;OMIM_ID=OMIM:606811;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 19204173 . A G 117.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,1,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_001161504|),INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_003748|),INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_170726|);SEL_PRIMARY_EFF=0;Gene_Description=19229293;OMIM_ID=OMIM:606811;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 19208944 . A G 114.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,11,3;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||MIR4695|Non-coding_transcript|NON_CODING|NR_039844|),INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_001161504|),INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_003748|),INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_170726|);SEL_PRIMARY_EFF=1;Gene_Description=19229293;OMIM_ID=OMIM:606811;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 19215834 . T C 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,8,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_001161504|),INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_003748|),INTRON(MODIFIER||||ALDH4A1|mRNA|CODING|NM_170726|);SEL_PRIMARY_EFF=0;Gene_Description=19229293;OMIM_ID=OMIM:606811;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 20979307 . G GT 255.0 Pass ALTCOUNT=018;DP=31;DP4=12,18,5,13;STDP4=31,0,18,0;AF1=0.58064514;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||PINK1|mRNA|CODING|NM_032409|),INTRON(MODIFIER||||DDOST|mRNA|CODING|NM_005216|),UPSTREAM(MODIFIER||||PINK1-AS|Non-coding_transcript|NON_CODING|NR_046507|);SEL_PRIMARY_EFF=1;Gene_Description=20988037;OMIM_ID=OMIM:602202;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,12,24:10 chr1 21755055 . C A 255.0 PASS ALTCOUNT=10;DP=15.0;DP4=4,2,2,8;AF1=0.6666667;MQ=39;IsKnownVariant=0;EFF=INTERGENIC(MODIFIER||||||||);SEL_PRIMARY_EFF;pValue=1.0E-255;Zygosity=HET;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 21755453 . G A 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,6,10;AF1=1.0;MQ=39;IsKnownVariant=0;EFF=INTERGENIC(MODIFIER||||||||);SEL_PRIMARY_EFF;pValue=1.0E-117;Zygosity=HOM;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 21755539 . C A 255.0 PASS ALTCOUNT=15;DP=21.0;DP4=6,1,8,7;AF1=0.71428573;MQ=39;IsKnownVariant=0;EFF=INTERGENIC(MODIFIER||||||||);SEL_PRIMARY_EFF;pValue=1.0E-255;Zygosity=HET;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 21755756 . G C 114.0 PASS ALTCOUNT=32;DP=32.0;DP4=1,0,17,15;AF1=1.0;MQ=38;IsKnownVariant=0;EFF=INTERGENIC(MODIFIER||||||||);SEL_PRIMARY_EFF;pValue=1.0E-114;Zygosity=HOM;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 21894735 rs3200254 T C 255.0 PASS ALTCOUNT=11;DP=24.0;DP4=7,7,3,8;AF1=0.45833334;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=B7Z387,B7Z1D1,P05186;dbnsfpInterpro_domain=Alkaline_phosphatase-like,_alpha/beta/alpha_(1),Alkaline-phosphatase-like,_core_domain_(1),;dbnsfpEnsembl_transcriptid=ENST00000539907,ENST00000540617,ENST00000374840,ENST00000374832,ENST00000425315;dbnsfpSIFT_score=0.600000;dbnsfpGERP++_NR=3.97;dbnsfpGERP++_RS=1.91;dbnsfp29way_logOdds=0.7701;dbnsfp1000Gp1_AF=0.27884615384615385;dbnsfp1000Gp1_AFR_AF=0.2764227642276423;dbnsfp1000Gp1_EUR_AF=0.1279683377308707;dbnsfp1000Gp1_AMR_AF=0.2596685082872928;dbnsfp1000Gp1_ASN_AF=0.493006993006993;dbnsfpESP5400_AA_AF=0.257089;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y186H|ALPL|mRNA|CODING|NM_001177520|NM_001177520.ex.5),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y208H|ALPL|mRNA|CODING|NM_001127501|NM_001127501.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y263H|ALPL|mRNA|CODING|NM_000478|NM_000478.ex.7);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2670(C);HGVS=(,,),(,,),(NC_000001.10:g.21894735T>C,NM_000478.4:c.787T>C,NP_000469.3:p.Tyr263His);Mutation_cds_syntax=c.787T>C;Mutation_AA_syntax=p.Y263H;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=2.44,100.0;Tumour_Site_(cosmic)=large_intestine,soft_tissue;HGVS_Syntax(COSMIC)=c.787T>Cp.Y263H;Gene_Description=21904905;OMIM_ID=OMIM:171760;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 21900171 . A G 255.0 PASS ALTCOUNT=10;DP=20.0;DP4=7,4,6,4;AF1=0.5;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P215|ALPL|mRNA|CODING|NM_001177520|NM_001177520.ex.7),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P237|ALPL|mRNA|CODING|NM_001127501|NM_001127501.ex.8),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P292|ALPL|mRNA|CODING|NM_000478|NM_000478.ex.9);SEL_PRIMARY_EFF=0;Gene_Description=21904905;OMIM_ID=OMIM:171760;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 22206649 . T C 117.0 PASS ALTCOUNT=23;DP=23.0;DP4=1,0,14,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P98160;dbnsfpInterpro_domain=EGF-like,_laminin_(3),;dbnsfpEnsembl_transcriptid=ENST00000374695;dbnsfpSIFT_score=0.240000;dbnsfpGERP++_NR=5.38;dbnsfpGERP++_RS=5.38;dbnsfp29way_logOdds=13.348;dbnsfp1000Gp1_AF=0.9464285714285714;dbnsfp1000Gp1_AFR_AF=0.7804878048780488;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=0.9751381215469613;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.807919;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N765S|HSPG2|mRNA|CODING|NM_005529|NM_005529.ex.17),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N766S|HSPG2|mRNA|CODING|NM_001291860|NM_001291860.ex.17);SEL_PRIMARY_EFF=0;Gene_Description=22263790;OMIM_ID=OMIM:142461;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 22206942 . G A 117.0 PASS ALTCOUNT=22;DP=22.0;DP4=1,0,11,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A703|HSPG2|mRNA|CODING|NM_005529|NM_005529.ex.16),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A704|HSPG2|mRNA|CODING|NM_001291860|NM_001291860.ex.16);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2109C>T;Mutation_AA_syntax=p.A703A;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=25.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.2109C>Tp.A703A;Gene_Description=22263790;OMIM_ID=OMIM:142461;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 22207235 . T C 114.0 PASS ALTCOUNT=20;DP=20.0;DP4=1,0,12,8;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=P98160;dbnsfpInterpro_domain=Laminin_B_type_IV_(2),Laminin_B,_subgroup_(1),;dbnsfpEnsembl_transcriptid=ENST00000374695;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.51;dbnsfpGERP++_RS=3.56;dbnsfp29way_logOdds=7.5688;dbnsfp1000Gp1_AF=0.9812271062271062;dbnsfp1000Gp1_AFR_AF=0.9227642276422764;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=0.9917127071823204;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.925309;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M638V|HSPG2|mRNA|CODING|NM_005529|NM_005529.ex.15),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M639V|HSPG2|mRNA|CODING|NM_001291860|NM_001291860.ex.15);SEL_PRIMARY_EFF=0;Gene_Description=22263790;OMIM_ID=OMIM:142461;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 22214127 . A G 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,4,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q5SZI5;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000412328,ENST00000374673;dbnsfpSIFT_score=0.540000;dbnsfpGERP++_NR=4.36;dbnsfpGERP++_RS=0.117;dbnsfp29way_logOdds=0.6232;dbnsfp1000Gp1_AF=0.5215201465201466;dbnsfp1000Gp1_AFR_AF=0.6402439024390244;dbnsfp1000Gp1_EUR_AF=0.33509234828496043;dbnsfp1000Gp1_AMR_AF=0.5469613259668509;dbnsfp1000Gp1_ASN_AF=0.6503496503496503;dbnsfpESP5400_AA_AF=0.625736;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctT/ctC|L248|HSPG2|mRNA|CODING|NM_001291860|NM_001291860.ex.8),SYNONYMOUS_CODING(LOW|SILENT|ctT/ctC|L248|HSPG2|mRNA|CODING|NM_005529|NM_005529.ex.8);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.744T>C,c.224T>C;Mutation_AA_syntax=p.L248L,p.L75P;Mutation_Description(COSMIC)=Substitution_coding//\@silent,Substitution_Missense;Frequency_(cosmic)=0.66,50.0;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.744T>Cp.L248L,c.224T>Cp.L75P;Gene_Description=22263790;OMIM_ID=OMIM:142461;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 22217108 . G A 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,9,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F108|HSPG2|mRNA|CODING|NM_001291860|NM_001291860.ex.4),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F108|HSPG2|mRNA|CODING|NM_005529|NM_005529.ex.4);SEL_PRIMARY_EFF=0;Gene_Description=22263790;OMIM_ID=OMIM:142461;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 22817865 . G T 255.0 PASS ALTCOUNT=10;DP=16.0;DP4=5,2,7,3;AF1=0.625;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ZBTB40|mRNA|CODING|NM_001083621|),INTRON(MODIFIER||||ZBTB40|mRNA|CODING|NM_014870|);SEL_PRIMARY_EFF=0;Gene_Description=22857650;OMIM_ID=OMIM:612106;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 22835677 . A G 255.0 PASS ALTCOUNT=18;DP=30.0;DP4=6,7,9,9;AF1=0.6;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=F8WAI8,Q9NUA8;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000404138,ENST00000375647,ENST00000374651;dbnsfpSIFT_score=0.240000;dbnsfpGERP++_NR=5.95;dbnsfpGERP++_RS=0.925;dbnsfp29way_logOdds=2.8661;dbnsfp1000Gp1_AF=0.8383699633699634;dbnsfp1000Gp1_AFR_AF=0.9349593495934959;dbnsfp1000Gp1_EUR_AF=0.7295514511873351;dbnsfp1000Gp1_AMR_AF=0.8232044198895028;dbnsfp1000Gp1_ASN_AF=0.9090909090909091;dbnsfpESP5400_AA_AF=0.902354;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y595C|ZBTB40|mRNA|CODING|NM_001083621|NM_001083621.ex.10),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y595C|ZBTB40|mRNA|CODING|NM_014870|NM_014870.ex.9);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1784A>G;Mutation_AA_syntax=p.Y595C;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=2.56,100.0;Tumour_Site_(cosmic)=liver,thyroid;HGVS_Syntax(COSMIC)=c.1784A>Gp.Y595C;Gene_Description=22857650;OMIM_ID=OMIM:612106;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 22846709 . G A 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,4,13;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=F8WAI8,Q9NUA8;dbnsfpInterpro_domain=Zinc_finger,_C2H2-like_(1),Zinc_finger,_C2H2_(3),Zinc_finger,_C2H2-type/integrase,_DNA-binding_(1),;dbnsfpEnsembl_transcriptid=ENST00000404138,ENST00000375647,ENST00000374651;dbnsfpSIFT_score=0.300000;dbnsfpGERP++_NR=5.79;dbnsfpGERP++_RS=5.79;dbnsfp29way_logOdds=8.2823;dbnsfp1000Gp1_AF=0.9967948717948718;dbnsfp1000Gp1_AFR_AF=0.9979674796747967;dbnsfp1000Gp1_EUR_AF=0.9934036939313984;dbnsfp1000Gp1_AMR_AF=0.9972375690607734;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.998662;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V997M|ZBTB40|mRNA|CODING|NM_001083621|NM_001083621.ex.15),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V997M|ZBTB40|mRNA|CODING|NM_014870|NM_014870.ex.14);SEL_PRIMARY_EFF=0;Gene_Description=22857650;OMIM_ID=OMIM:612106;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 22965438 . A G 114.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,8,5;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000339353;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.48;dbnsfpGERP++_RS=-2.62;dbnsfp29way_logOdds=0.3476;dbnsfp1000Gp1_AF=0.5851648351648352;dbnsfp1000Gp1_AFR_AF=0.8048780487804879;dbnsfp1000Gp1_EUR_AF=0.40105540897097625;dbnsfp1000Gp1_AMR_AF=0.5828729281767956;dbnsfp1000Gp1_ASN_AF=0.6416083916083916;dbnsfpESP5400_AA_AF=0.702426;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggA/ggG|G92|C1QA|mRNA|CODING|NM_015991|NM_015991.ex.3),UPSTREAM(MODIFIER||||C1QC|mRNA|CODING|NM_001114101|),UPSTREAM(MODIFIER||||C1QC|mRNA|CODING|NM_172369|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.276A>G;Mutation_AA_syntax=p.G92G;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=4.0,33.33;Tumour_Site_(cosmic)=large_intestine,upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.276A>Gp.G92G;Gene_Description=22966175;OMIM_ID=OMIM:120550;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 23101688 . T G 117.0 PASS ALTCOUNT=20;DP=20.0;DP4=1,0,12,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||EPHB2|mRNA|CODING|NM_001309192|),INTRON(MODIFIER||||EPHB2|mRNA|CODING|NM_001309193|),INTRON(MODIFIER||||EPHB2|mRNA|CODING|NM_004442|),INTRON(MODIFIER||||EPHB2|mRNA|CODING|NM_017449|);SEL_PRIMARY_EFF=0;Gene_Description=23247993;OMIM_ID=OMIM:600997;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 23219493 . T C 114.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,8,9;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G515|EPHB2|mRNA|CODING|NM_001309192|NM_001309192.ex.7),SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G515|EPHB2|mRNA|CODING|NM_001309193|NM_001309193.ex.7),SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G515|EPHB2|mRNA|CODING|NM_004442|NM_004442.ex.7),SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G515|EPHB2|mRNA|CODING|NM_017449|NM_017449.ex.7);SEL_PRIMARY_EFF=0;Gene_Description=23247993;OMIM_ID=OMIM:600997;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 24018277 rs10917413 C G 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,10,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=START_GAINED(LOW||||RPL11|mRNA|CODING|NM_000975|NM_000975.ex.1),START_GAINED(LOW||||RPL11|mRNA|CODING|NM_001199802|NM_001199802.ex.1);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0232(C);HGVS=(NC_000001.10:g.24018277C>G,NM_000975.3:c.-37C>G,),(,,);Gene_Description=24022915;OMIM_ID=OMIM:604175;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 24022437 . A G 255.0 PASS ALTCOUNT=18;DP=30.0;DP4=4,9,11,7;AF1=0.6;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RPL11|mRNA|CODING|NM_000975|),INTRON(MODIFIER||||RPL11|mRNA|CODING|NM_001199802|);SEL_PRIMARY_EFF=0;Gene_Description=24022915;OMIM_ID=OMIM:604175;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 24134721 rs719400 T C 117.0 PASS ALTCOUNT=23;DP=23.0;DP4=1,0,9,14;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000235958;dbnsfpSIFT_score;dbnsfpGERP++_NR=5.65;dbnsfpGERP++_RS=4.74;dbnsfp29way_logOdds=7.9682;dbnsfp1000Gp1_AF=0.8951465201465202;dbnsfp1000Gp1_AFR_AF=0.959349593495935;dbnsfp1000Gp1_EUR_AF=0.9195250659630607;dbnsfp1000Gp1_AMR_AF=0.914364640883978;dbnsfp1000Gp1_ASN_AF=0.7954545454545454;dbnsfpESP5400_AA_AF=0.962012;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L147|HMGCL|mRNA|CODING|NM_001166059|NM_001166059.ex.5),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L218|HMGCL|mRNA|CODING|NM_000191|NM_000191.ex.7);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1126(T);HGVS=(,,),(NC_000001.10:g.24134721T>C,NM_000191.2:c.654A>G,p.L218L:CTA>CTG);Gene_Description=24151949;OMIM_ID=OMIM:613898;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 25890189 . A G 255.0 PASS ALTCOUNT=13;DP=21.0;DP4=4,5,8,5;AF1=0.61904764;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T218|LDLRAP1|mRNA|CODING|NM_015627|NM_015627.ex.7);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.654A>G;Mutation_AA_syntax=p.T218T;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=2.78;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.654A>Gp.T218T;Gene_Description=25895377;OMIM_ID=OMIM:605747;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 26131654 rs7349185 G A 114.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,7,5;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=Q9NZV5-2,Q9NZV5;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000361547,ENST00000354177,ENST00000374315;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.19;dbnsfpGERP++_RS=1.58;dbnsfp29way_logOdds=0.9701;dbnsfp1000Gp1_AF=0.8333333333333334;dbnsfp1000Gp1_AFR_AF=0.7540650406504065;dbnsfp1000Gp1_EUR_AF=0.7928759894459103;dbnsfp1000Gp1_AMR_AF=0.8839779005524862;dbnsfp1000Gp1_ASN_AF=0.9230769230769231;dbnsfpESP5400_AA_AF=0.792176;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tAc|C108Y|SEPN1|mRNA|CODING|NM_206926|NM_206926.ex.3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tAc|C142Y|SEPN1|mRNA|CODING|NM_020451|NM_020451.ex.4);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1581(G);HGVS=(,,),(NC_000001.10:g.26131654G>A,NM_020451.2:c.425G>A,NP_065184.2:p.Cys142Tyr);Mutation_cds_syntax=c.425G>A;Mutation_AA_syntax=p.C142Y;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=20.0;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.425G>Ap.C142Y;Gene_Description=26144713;OMIM_ID=OMIM:606210;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 29439016 . T A 117.0 PASS ALTCOUNT=22;DP=22.0;DP4=1,0,3,19;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||EPB41|mRNA|CODING|NM_001166005|),INTRON(MODIFIER||||EPB41|mRNA|CODING|NM_001166007|),INTRON(MODIFIER||||EPB41|mRNA|CODING|NM_004437|),INTRON(MODIFIER||||EPB41|mRNA|CODING|NM_203342|),INTRON(MODIFIER||||EPB41|mRNA|CODING|NM_203343|);SEL_PRIMARY_EFF=0;Gene_Description=29446558;OMIM_ID=OMIM:130500;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 33276424 . G A 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,2,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||YARS|mRNA|CODING|NM_003680|);SEL_PRIMARY_EFF=0;Gene_Description=33283633;OMIM_ID=OMIM:603623;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 33478602 . C A 255.0 PASS ALTCOUNT=10;DP=18.0;DP4=8,1,7,3;AF1=0.5555556;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||AK2|mRNA|CODING|NM_001199199|),INTRON(MODIFIER||||AK2|mRNA|CODING|NM_013411|),INTRON(MODIFIER||||AK2|mRNA|CODING|NR_037591|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttT|L367F|AK2|mRNA|CODING|NR_037592|NR_037592.ex.7),UTR_3_PRIME(MODIFIER||||AK2|mRNA|CODING|NM_001625|NM_001625.ex.6);SEL_PRIMARY_EFF=3;Gene_Description=33502512;OMIM_ID=OMIM:103020;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 33478900 . T A 244.0 PASS ALTCOUNT=10;DP=45.0;DP4=21,14,5,6;AF1=0.22222222;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P54819-5,F8VY04,P54819,P54819-2;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000373449,ENST00000548033,ENST00000467905,ENST00000354858;dbnsfpSIFT_score=0.000000;dbnsfpGERP++_NR=5.17;dbnsfpGERP++_RS=5.17;dbnsfp29way_logOdds=15.7282;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=8.03E-4;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tTc|Y193F|AK2|mRNA|CODING|NM_001199199|NM_001199199.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tTc|Y201F|AK2|mRNA|CODING|NM_001625|NM_001625.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tTc|Y201F|AK2|mRNA|CODING|NM_013411|NM_013411.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tTc|Y268F|AK2|mRNA|CODING|NR_037591|NR_037591.ex.7),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tTc|Y268F|AK2|mRNA|CODING|NR_037592|NR_037592.ex.7);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.602A>T;Mutation_AA_syntax=p.Y201F;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29,100.0;Tumour_Site_(cosmic)=thyroid,upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.602A>Tp.Y201F;Gene_Description=33502512;OMIM_ID=OMIM:103020;pValue=1.0000000000000001E-244;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 33478920 . G A 252.0 PASS ALTCOUNT=12;DP=48.0;DP4=24,13,4,8;AF1=0.25;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T186|AK2|mRNA|CODING|NM_001199199|NM_001199199.ex.6),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T194|AK2|mRNA|CODING|NM_001625|NM_001625.ex.6),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T194|AK2|mRNA|CODING|NM_013411|NM_013411.ex.6),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T261|AK2|mRNA|CODING|NR_037591|NR_037591.ex.7),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T261|AK2|mRNA|CODING|NR_037592|NR_037592.ex.7);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.582C>T;Mutation_AA_syntax=p.T194T;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=42.86,4.35,50.0,20.0;Tumour_Site_(cosmic)=thyroid,upper_aerodigestive_tract,kidney;HGVS_Syntax(COSMIC)=c.582C>Tp.T194T;Gene_Description=33502512;OMIM_ID=OMIM:103020;pValue=1.0000000000000001E-252;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 33478931 . G C 219.0 PASS ALTCOUNT=11;DP=59.0;DP4=27,22,3,8;AF1=0.18644068;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P54819-5,F8VY04,P54819,P54819-2;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000373449,ENST00000548033,ENST00000467905,ENST00000354858;dbnsfpSIFT_score=0.000000;dbnsfpGERP++_NR=5.17;dbnsfpGERP++_RS=5.17;dbnsfp29way_logOdds=19.5674;dbnsfp1000Gp1_AF=0.2632783882783883;dbnsfp1000Gp1_AFR_AF=0.3333333333333333;dbnsfp1000Gp1_EUR_AF=0.26649076517150394;dbnsfp1000Gp1_AMR_AF=0.27624309392265195;dbnsfp1000Gp1_ASN_AF=0.19055944055944055;dbnsfpESP5400_AA_AF=0.112895;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Gac|H183D|AK2|mRNA|CODING|NM_001199199|NM_001199199.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Gac|H191D|AK2|mRNA|CODING|NM_001625|NM_001625.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Gac|H191D|AK2|mRNA|CODING|NM_013411|NM_013411.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Gac|H258D|AK2|mRNA|CODING|NR_037591|NR_037591.ex.7),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Gac|H258D|AK2|mRNA|CODING|NR_037592|NR_037592.ex.7);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.571C>G;Mutation_AA_syntax=p.H191D;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=71.43,100.0;Tumour_Site_(cosmic)=thyroid,upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.571C>Gp.H191D;Gene_Description=33502512;OMIM_ID=OMIM:103020;pValue=1.0E-219;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 35227306 . C A 255.0 PASS ALTCOUNT=13;DP=21.0;DP4=6,3,6,7;AF1=0.61904764;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q9NTQ9;dbnsfpInterpro_domain=Gap_junction_protein,_cysteine-rich_domain_(1),;dbnsfpEnsembl_transcriptid=ENST00000339480;dbnsfpSIFT_score=0.250000;dbnsfpGERP++_NR=5.73;dbnsfpGERP++_RS=2.76;dbnsfp29way_logOdds=2.7568;dbnsfp1000Gp1_AF=0.05036630036630037;dbnsfp1000Gp1_AFR_AF=0.11788617886178862;dbnsfp1000Gp1_EUR_AF=0.0;dbnsfp1000Gp1_AMR_AF=0.0856353591160221;dbnsfp1000Gp1_ASN_AF=0.03671328671328671;dbnsfpESP5400_AA_AF=0.08962;EFF=DOWNSTREAM(MODIFIER||||GJB5|mRNA|CODING|NM_005268|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R151S|GJB4|mRNA|CODING|NM_153212|NM_153212.ex.2);SEL_PRIMARY_EFF=1;Mutation_cds_syntax=c.451C>A;Mutation_AA_syntax=p.R151S;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=33.33;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.451C>Ap.R151S;Gene_Description=35229325;OMIM_ID=OMIM:605425;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 40557656 . G A 255.0 PASS ALTCOUNT=13;DP=14.0;DP4=2,0,10,3;AF1=0.9285714;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||PPT1|mRNA|CODING|NM_000310|),INTRON(MODIFIER||||PPT1|mRNA|CODING|NM_001142604|);SEL_PRIMARY_EFF=0;Gene_Description=40563142;OMIM_ID=OMIM:600722;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 43215930 . C T 255.0 PASS ALTCOUNT=13;DP=33.0;DP4=11,10,9,4;AF1=0.3939394;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q32P28-3,B4DNM8,Q32P28;dbnsfpInterpro_domain=Prolyl_4-hydroxylase,_alpha_subunit_(1),;dbnsfpEnsembl_transcriptid=ENST00000397054,ENST00000236040,ENST00000296388,ENST00000540027;dbnsfpSIFT_score=0.250000;dbnsfpGERP++_NR=5.13;dbnsfpGERP++_RS=4.22;dbnsfp29way_logOdds=7.6341;dbnsfp1000Gp1_AF=0.04716117216117216;dbnsfp1000Gp1_AFR_AF=0.014227642276422764;dbnsfp1000Gp1_EUR_AF=0.08839050131926121;dbnsfp1000Gp1_AMR_AF=0.04419889502762431;dbnsfp1000Gp1_ASN_AF=0.022727272727272728;dbnsfpESP5400_AA_AF=0.0313;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M549I|P3H1|mRNA|CODING|NM_001146289|NM_001146289.ex.11),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M549I|P3H1|mRNA|CODING|NM_001243246|NM_001243246.ex.11),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M549I|P3H1|mRNA|CODING|NM_022356|NM_022356.ex.11);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1647G>A;Mutation_AA_syntax=p.M549I;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=33.33;Tumour_Site_(cosmic)=soft_tissue;HGVS_Syntax(COSMIC)=c.1647G>Ap.M549I;Gene_Description=43232755;OMIM_ID=OMIM:610339;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 43228189 . T A 117.0 PASS ALTCOUNT=22;DP=23.0;DP4=1,0,8,15;AF1=0.95652175;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||P3H1|mRNA|CODING|NM_001146289|),INTRON(MODIFIER||||P3H1|mRNA|CODING|NM_001243246|),INTRON(MODIFIER||||P3H1|mRNA|CODING|NM_022356|),UPSTREAM(MODIFIER||||C1orf50|mRNA|CODING|NM_024097|),UPSTREAM(MODIFIER||||C1orf50|mRNA|CODING|NR_040733|);SEL_PRIMARY_EFF=0;Gene_Description=43232755;OMIM_ID=OMIM:610339;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 43395635 rs2229682 C T 255.0 PASS ALTCOUNT=14;DP=24.0;DP4=7,4,5,9;AF1=0.5833333;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P196|SLC2A1|mRNA|CODING|NM_006516|NM_006516.ex.5);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1196(T);HGVS=(NC_000001.10:g.43395635C>T,NM_006516.2:c.588G>A,NP_006507.2:p.(//\&);Gene_Description=43424847;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 43396414 rs11537641 G A 255.0 PASS ALTCOUNT=13;DP=20.0;DP4=6,2,12,1;AF1=0.65;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C133|SLC2A1|mRNA|CODING|NM_006516|NM_006516.ex.4);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1414(A);HGVS=(NC_000001.10:g.43396414G>A,NM_006516.2:c.399C>T,p.C133C:TGC>TGT);Mutation_cds_syntax=c.114C>T,c.399C>T;Mutation_AA_syntax=p.C38C,p.C133C;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=15.38,25.0,6.06;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.114C>Tp.C38C,c.399C>Tp.C133C;Gene_Description=43424847;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 43652369 . T C 117.0 PASS ALTCOUNT=23;DP=23.0;DP4=1,0,12,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CFAP57|mRNA|CODING|NM_001167965|),INTRON(MODIFIER||||CFAP57|mRNA|CODING|NM_001195831|),INTRON(MODIFIER||||CFAP57|mRNA|CODING|NM_152498|);SEL_PRIMARY_EFF=0;Gene_Description=43720029;OMIM_ID=OMIM:614259;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 43663376 . A G 117.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,4,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CFAP57|mRNA|CODING|NM_001167965|),INTRON(MODIFIER||||CFAP57|mRNA|CODING|NM_001195831|),INTRON(MODIFIER||||CFAP57|mRNA|CODING|NM_152498|);SEL_PRIMARY_EFF=0;Gene_Description=43720029;OMIM_ID=OMIM:614259;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 43675467 . G A 117.0 PASS ALTCOUNT=29;DP=29.0;DP4=1,0,15,14;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S603|CFAP57|mRNA|CODING|NM_001167965|NM_001167965.ex.11),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S603|CFAP57|mRNA|CODING|NM_001195831|NM_001195831.ex.11),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S603|CFAP57|mRNA|CODING|NM_152498|NM_152498.ex.11);SEL_PRIMARY_EFF=0;Gene_Description=43720029;OMIM_ID=OMIM:614259;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 43699935 . C T 114.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,8,2;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CFAP57|mRNA|CODING|NM_001195831|);SEL_PRIMARY_EFF=0;Gene_Description=43720029;OMIM_ID=OMIM:614259;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 43700140 . A G 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,5,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CFAP57|mRNA|CODING|NM_001195831|);SEL_PRIMARY_EFF=0;Gene_Description=43720029;OMIM_ID=OMIM:614259;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 44395786 . C T 255.0 PASS ALTCOUNT=30;DP=49.0;DP4=12,8,16,14;AF1=0.6122449;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000490502;dbnsfpSIFT_score;dbnsfpGERP++_NR=4.5;dbnsfpGERP++_RS=2.47;dbnsfp29way_logOdds=4.325;dbnsfp1000Gp1_AF=0.5576923076923077;dbnsfp1000Gp1_AFR_AF=0.15853658536585366;dbnsfp1000Gp1_EUR_AF=0.7572559366754618;dbnsfp1000Gp1_AMR_AF=0.6740331491712708;dbnsfp1000Gp1_ASN_AF=0.5629370629370629;dbnsfpESP5400_AA_AF=0.241306;EFF=INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_001270459|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_001270460|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_001270461|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_001270462|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_001270463|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_001270464|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_001270465|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_001270466|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_006279|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_174963|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_174964|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_174965|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_174966|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_174967|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_174968|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_174969|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_174970|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NM_174971|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NR_073016|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NR_073017|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NR_073018|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NR_073019|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NR_073020|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NR_073021|),INTRON(MODIFIER||||ST3GAL3|mRNA|CODING|NR_073023|),UPSTREAM(MODIFIER||||ARTN|mRNA|CODING|NM_001136215|),UPSTREAM(MODIFIER||||ARTN|mRNA|CODING|NM_057090|),UPSTREAM(MODIFIER||||ARTN|mRNA|CODING|NM_057091|);SEL_PRIMARY_EFF=0;Gene_Description=44396837;OMIM_ID=OMIM:606494;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 45293518 . A G 255.0 PASS ALTCOUNT=10;DP=16.0;DP4=4,3,8,2;AF1=0.625;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A685|PTCH2|mRNA|CODING|NM_001166292|NM_001166292.ex.14),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A685|PTCH2|mRNA|CODING|NM_003738|NM_003738.ex.14);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2055T>C;Mutation_AA_syntax=p.A685A;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=66.67,1.47,68.18;Tumour_Site_(cosmic)=thyroid,large_intestine,soft_tissue;HGVS_Syntax(COSMIC)=c.2055T>Cp.A685A;Gene_Description=45308616;OMIM_ID=OMIM:603673;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 45362992 . T C 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,9,2;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||EIF2B3|mRNA|CODING|NM_001166588|),INTRON(MODIFIER||||EIF2B3|mRNA|CODING|NM_001261418|),INTRON(MODIFIER||||EIF2B3|mRNA|CODING|NM_020365|);SEL_PRIMARY_EFF=0;Gene_Description=45452394;OMIM_ID=OMIM:606273;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 45444038 rs11556200 G A 255.0 PASS ALTCOUNT=13;DP=24.0;DP4=9,3,9,4;AF1=0.5416667;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D81|EIF2B3|mRNA|CODING|NM_001166588|NM_001166588.ex.3),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D81|EIF2B3|mRNA|CODING|NM_001261418|NM_001261418.ex.3),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D81|EIF2B3|mRNA|CODING|NM_020365|NM_020365.ex.3);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Conflicting//\@interpretations//\@of//\@pathogenicity;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2965(A);HGVS=(,,),(,,),(NC_000001.10:g.45444038G>A,NM_020365.4:c.243C>T,NP_065098.1:p.(//\&);Gene_Description=45452394;OMIM_ID=OMIM:606273;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 45479709 . A G 255.0 PASS ALTCOUNT=11;DP=22.0;DP4=7,5,6,5;AF1=0.5;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||ZSWIM5|mRNA|CODING|NM_020883|),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P201|UROD|Non-coding_transcript|CODING|NM_000374|NM_000374.ex.6),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P262|UROD|Non-coding_transcript|CODING|NR_036510|NR_036510.ex.6),UPSTREAM(MODIFIER||||HECTD3|mRNA|CODING|NM_024602|);SEL_PRIMARY_EFF=1;Mutation_cds_syntax=c.603A>G;Mutation_AA_syntax=p.P201P;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=4.55,33.33;Tumour_Site_(cosmic)=large_intestine,liver;HGVS_Syntax(COSMIC)=c.603A>Gp.P201P;Gene_Description=45481341;OMIM_ID=OMIM:613521;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 45479772 . G T 255.0 PASS ALTCOUNT=11;DP=24.0;DP4=6,8,5,6;AF1=0.45833334;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||ZSWIM5|mRNA|CODING|NM_020883|),INTRON(MODIFIER||||UROD|Non-coding_transcript|CODING|NM_000374|),INTRON(MODIFIER||||UROD|Non-coding_transcript|CODING|NR_036510|),UPSTREAM(MODIFIER||||HECTD3|mRNA|CODING|NM_024602|);SEL_PRIMARY_EFF=1;Gene_Description=45481341;OMIM_ID=OMIM:613521;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 45796269 . G C 117.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,7,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||HPDL|mRNA|CODING|NM_032756|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048171|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048172|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048173|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048174|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001128425|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293190|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293191|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293192|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293195|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293196|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_012222|);SEL_PRIMARY_EFF=1;Gene_Description=45806142;OMIM_ID=OMIM:604933;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 45798555 . T C 114.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,8,4;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||HPDL|mRNA|CODING|NM_032756|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048171|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048172|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048173|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048174|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001128425|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293190|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293191|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293192|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293195|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293196|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_012222|);SEL_PRIMARY_EFF=1;Gene_Description=45806142;OMIM_ID=OMIM:604933;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 45805566 . G C 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,9,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||TESK2|mRNA|CODING|NM_007170|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048171|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048172|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048173|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001048174|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001128425|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293190|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293191|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293192|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293195|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_001293196|),INTRON(MODIFIER||||MUTYH|mRNA|CODING|NM_012222|),UTR_5_PRIME(MODIFIER||||TOE1|mRNA|CODING|NM_025077|NM_025077.ex.1);SEL_PRIMARY_EFF=0;Gene_Description=45806142,45809650;OMIM_ID=;pValue=1.0E-117;Zygosity=HOM;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 46655158 rs6659553 T C 117.0 PASS ALTCOUNT=21;DP=21.0;DP4=1,0,12,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=F5H827,Q5VST3,Q8WZA1;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000371984,ENST00000371992,ENST00000535522,ENST00000371986;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.92;dbnsfpGERP++_RS=5.92;dbnsfp29way_logOdds=15.0282;dbnsfp1000Gp1_AF=0.9519230769230769;dbnsfp1000Gp1_AFR_AF=0.7926829268292683;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=0.9917127071823204;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.828785;EFF=DOWNSTREAM(MODIFIER||||TSPAN1|mRNA|CODING|NM_005727|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M480V|POMGNT1|mRNA|CODING|NM_001290130|NM_001290130.ex.20),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M601V|POMGNT1|mRNA|CODING|NM_001290129|NM_001290129.ex.20),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M623V|POMGNT1|mRNA|CODING|NM_001243766|NM_001243766.ex.21),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M623V|POMGNT1|mRNA|CODING|NM_017739|NM_017739.ex.21);SEL_PRIMARY_EFF=1;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0575(T);HGVS=(,,),(,,),(,,),(NC_000001.10:g.46655158T>C,NM_001243766.1:c.1867G//\&,NP_060209.3:p.Met623Val),(,,);Gene_Description=46685977;OMIM_ID=OMIM:606822;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 46658328 . A G 255.0 PASS ALTCOUNT=11;DP=15.0;DP4=1,4,4,7;AF1=0.73333335;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_001243766|),INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_001290129|),INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_001290130|),INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_017739|);SEL_PRIMARY_EFF=0;Gene_Description=46685977;OMIM_ID=OMIM:606822;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 46658343 . G A 255.0 PASS ALTCOUNT=11;DP=16.0;DP4=3,3,4,7;AF1=0.6875;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_001243766|),INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_001290129|),INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_001290130|),INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_017739|);SEL_PRIMARY_EFF=0;Gene_Description=46685977;OMIM_ID=OMIM:606822;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 46659104 . T C 255.0 PASS ALTCOUNT=10;DP=13.0;DP4=3,1,3,7;AF1=0.7692308;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_001243766|),INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_001290129|),INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_001290130|),INTRON(MODIFIER||||POMGNT1|mRNA|CODING|NM_017739|);SEL_PRIMARY_EFF=0;Gene_Description=46685977;OMIM_ID=OMIM:606822;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 53676448 rs1799821,rs2229291 G A 255.0 PASS ALTCOUNT=10;DP=16.0;DP4=4,3,8,2;AF1=0.625;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P23786;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000371486;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.72;dbnsfpGERP++_RS=-0.261;dbnsfp29way_logOdds=10.7366;dbnsfp1000Gp1_AF=0.5;dbnsfp1000Gp1_AFR_AF=0.3008130081300813;dbnsfp1000Gp1_EUR_AF=0.5079155672823219;dbnsfp1000Gp1_AMR_AF=0.3867403314917127;dbnsfp1000Gp1_ASN_AF=0.7325174825174825;dbnsfpESP5400_AA_AF=0.29053;EFF=DOWNSTREAM(MODIFIER||||C1orf123|mRNA|CODING|NM_001304759|),DOWNSTREAM(MODIFIER||||C1orf123|mRNA|CODING|NM_001304760|),DOWNSTREAM(MODIFIER||||C1orf123|mRNA|CODING|NM_017887|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V368I|CPT2|mRNA|CODING|NM_000098|NM_000098.ex.4);SEL_PRIMARY_EFF=3;PUBMED_CITATIONS=1;CLINICAL_SIGNIFICANCE=Benign,risk//\@factor;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4131(A),0.0465(G);HGVS=(,,),(,,),(,,),(NC_000001.10:g.53676448G>A,NM_000098.2:c.1102G>A,p.V368I:GTC>ATC);Mutation_cds_syntax=c.1102G>A;Mutation_AA_syntax=p.V368I;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=3.57,25.0;Tumour_Site_(cosmic)=large_intestine,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.1102G>Ap.V368I;Gene_Description=53679869;OMIM_ID=OMIM:600650;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 54375570 . C A 117.0 PASS ALTCOUNT=33;DP=33.0;DP4=1,0,19,14;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DIO1|mRNA|CODING|NM_000792|),INTRON(MODIFIER||||DIO1|mRNA|CODING|NM_001039715|),INTRON(MODIFIER||||DIO1|mRNA|CODING|NM_001039716|),INTRON(MODIFIER||||DIO1|mRNA|CODING|NM_213593|);SEL_PRIMARY_EFF=0;GWASCAT=Multiple_myeloma_hyperdiploidy,Thyroid_hormone_levels;Gene_Description=54376759;OMIM_ID=OMIM:147892;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 54375701 . C T 255.0 PASS ALTCOUNT=15;DP=33.0;DP4=8,11,3,12;AF1=0.45454547;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=UTR_3_PRIME(MODIFIER||||DIO1|mRNA|CODING|NM_000792|NM_000792.ex.4),UTR_3_PRIME(MODIFIER||||DIO1|mRNA|CODING|NM_001039715|NM_001039715.ex.3),UTR_3_PRIME(MODIFIER||||DIO1|mRNA|CODING|NM_001039716|NM_001039716.ex.3),UTR_3_PRIME(MODIFIER||||DIO1|mRNA|CODING|NM_213593|NM_213593.ex.4);SEL_PRIMARY_EFF=0;Gene_Description=54376759;OMIM_ID=OMIM:147892;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 55319902 . A G 255.0 PASS ALTCOUNT=10;DP=18.0;DP4=5,4,4,6;AF1=0.5555556;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|atT/atC|I342|DHCR24|mRNA|CODING|NM_014762|NM_014762.ex.7);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1026T>C;Mutation_AA_syntax=p.I342I;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.1026T>Cp.I342I;Gene_Description=55352921;OMIM_ID=OMIM:606418;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 55330966 . T C 114.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,10,4;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DHCR24|mRNA|CODING|NM_014762|);SEL_PRIMARY_EFF=0;Gene_Description=55352921;OMIM_ID=OMIM:606418;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 55516781 . G T 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,12,1;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||PCSK9|mRNA|CODING|NM_174936|),INTRON(MODIFIER||||PCSK9|mRNA|CODING|NR_110451|);SEL_PRIMARY_EFF=0;Gene_Description=55530526;OMIM_ID=OMIM:607786;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 55517883 . C G 114.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,7,3;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||PCSK9|mRNA|CODING|NM_174936|),INTRON(MODIFIER||||PCSK9|mRNA|CODING|NR_110451|);SEL_PRIMARY_EFF=0;Gene_Description=55530526;OMIM_ID=OMIM:607786;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 55523033 . A G 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,11,2;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R229G|PCSK9|mRNA|CODING|NR_110451|NR_110451.ex.5),SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q342|PCSK9|mRNA|CODING|NM_174936|NM_174936.ex.7);SEL_PRIMARY_EFF=0;Gene_Description=55530526;OMIM_ID=OMIM:607786;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 55529187 rs505151 G A 114.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,4,8;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=Q8NBP7;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000302118;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=2.82;dbnsfpGERP++_RS=0.348;dbnsfp29way_logOdds=4.5696;dbnsfp1000Gp1_AF=0.902014652014652;dbnsfp1000Gp1_AFR_AF=0.709349593495935;dbnsfp1000Gp1_EUR_AF=0.9617414248021108;dbnsfp1000Gp1_AMR_AF=0.9640883977900553;dbnsfp1000Gp1_ASN_AF=0.9493006993006993;dbnsfpESP5400_AA_AF=0.741573;EFF=DOWNSTREAM(MODIFIER||||USP24|mRNA|CODING|NM_015306|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G539E|PCSK9|mRNA|CODING|NR_110451|NR_110451.ex.10),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G670E|PCSK9|mRNA|CODING|NM_174936|NM_174936.ex.12);SEL_PRIMARY_EFF=1;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1010(G);HGVS=(,,),(,,),(NC_000001.10:g.55529187G>A,NM_174936.3:c.2009G>A,LRG_275p1:p.Gly670Glu);Gene_Description=55530526;OMIM_ID=OMIM:607786;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 57422484 . C T 117.0 PASS ALTCOUNT=24;DP=24.0;DP4=1,0,12,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=F5H7G1,F5GY80;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000371237,ENST00000543257,ENST00000535057;dbnsfpSIFT_score=0.800000;dbnsfpGERP++_NR=5.41;dbnsfpGERP++_RS=-0.165;dbnsfp29way_logOdds=10.3156;dbnsfp1000Gp1_AF=0.9807692307692307;dbnsfp1000Gp1_AFR_AF=0.9979674796747967;dbnsfp1000Gp1_EUR_AF=0.9670184696569921;dbnsfp1000Gp1_AMR_AF=0.9558011049723757;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.992242;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G117R|C8B|mRNA|CODING|NM_000066|NM_000066.ex.3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G55R|C8B|mRNA|CODING|NM_001278544|NM_001278544.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G65R|C8B|mRNA|CODING|NM_001278543|NM_001278543.ex.4);SEL_PRIMARY_EFF=0;Gene_Description=57431813;OMIM_ID=OMIM:120960;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 63881552 rs4630153 C T 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,6,4;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=A2A2G4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000371108,ENST00000263440;dbnsfpSIFT_score=0.310000;dbnsfpGERP++_NR=5.06;dbnsfpGERP++_RS=3.91;dbnsfp29way_logOdds=6.8595;dbnsfp1000Gp1_AF=0.7802197802197802;dbnsfp1000Gp1_AFR_AF=0.8841463414634146;dbnsfp1000Gp1_EUR_AF=0.6952506596306068;dbnsfp1000Gp1_AMR_AF=0.7320441988950276;dbnsfp1000Gp1_ASN_AF=0.833916083916084;dbnsfpESP5400_AA_AF=0.850642;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S304F|ALG6|mRNA|CODING|NM_013339|NM_013339.ex.11);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Conflicting//\@interpretations//\@of//\@pathogenicity;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1695(C);HGVS=(NC_000001.10:g.63881552C>T,NM_013339.3:c.911C>T,NP_037471.2:p.Ser304Phe);Gene_Description=63904233;OMIM_ID=OMIM:604566;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 64114301 . T C 255.0 PASS ALTCOUNT=16;DP=24.0;DP4=3,6,9,7;AF1=0.6666667;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P36871-2,P36871;dbnsfpInterpro_domain=Alpha-D-phosphohexomutase,_alpha/beta/alpha_I/II/III_(1),Alpha-D-phosphohexomutase,_alpha/beta/alpha_domain_III_(1),;dbnsfpEnsembl_transcriptid=ENST00000538673,ENST00000371084,ENST00000540265,ENST00000371083;dbnsfpSIFT_score=0.020000;dbnsfpGERP++_NR=5.9;dbnsfpGERP++_RS=4.77;dbnsfp29way_logOdds=13.2602;dbnsfp1000Gp1_AF=0.23901098901098902;dbnsfp1000Gp1_AFR_AF=0.21341463414634146;dbnsfp1000Gp1_EUR_AF=0.22559366754617413;dbnsfp1000Gp1_AMR_AF=0.35911602209944754;dbnsfp1000Gp1_ASN_AF=0.20279720279720279;dbnsfpESP5400_AA_AF=0.17496;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y223H|PGM1|mRNA|CODING|NM_001172819|NM_001172819.ex.8),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y420H|PGM1|mRNA|CODING|NM_002633|NM_002633.ex.8),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y438H|PGM1|mRNA|CODING|NM_001172818|NM_001172818.ex.8);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1258T>C,c.1312T>C;Mutation_AA_syntax=p.Y420H,p.Y438H;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=3.57,9.09,20.0,3.7;Tumour_Site_(cosmic)=large_intestine,breast;HGVS_Syntax(COSMIC)=c.1258T>Cp.Y420H,c.1312T>Cp.Y438H;Gene_Description=64125916;OMIM_ID=OMIM:171900;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 66102257 . G A 117.0 PASS ALTCOUNT=35;DP=35.0;DP4=1,0,18,17;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||LEPR|mRNA|CODING|NM_001003679|),DOWNSTREAM(MODIFIER||||LEPR|mRNA|CODING|NM_001198689|),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P1019|LEPR|mRNA|CODING|NM_002303|NM_002303.ex.20);SEL_PRIMARY_EFF=2;Mutation_cds_syntax=c.3057G>A;Mutation_AA_syntax=p.P1019P;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0,1.61;Tumour_Site_(cosmic)=thyroid,liver;HGVS_Syntax(COSMIC)=c.3057G>Ap.P1019P;GWASCAT=C_reactive_protein;Gene_Description=66103176;OMIM_ID=OMIM:601007;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 68914339 . TC T 255.0 Pass ALTCOUNT=019;DP=30;DP4=5,5,12,7;STDP4=30,0,19,0;AF1=0.6333333;;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=FRAME_SHIFT(HIGH||||RPE65|mRNA|CODING|NM_000329|NM_000329.ex.2);SEL_PRIMARY_EFF=0;Gene_Description=68915642;OMIM_ID=OMIM:180069;pValue=1.0E-255;Zygosity=HET;Category=Category//@I-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,11,20:10 chr1 77165502 . G T 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,8,3;AF1=1.0;MQ=39;IsKnownVariant=0;EFF=INTERGENIC(MODIFIER||||||||);SEL_PRIMARY_EFF;pValue=1.0E-117;Zygosity=HOM;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 77165835 . G C 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,5,9;AF1=1.0;MQ=39;IsKnownVariant=0;EFF=INTERGENIC(MODIFIER||||||||);SEL_PRIMARY_EFF;pValue=1.0E-117;Zygosity=HOM;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 91359217 . A G 117.0 PASS ALTCOUNT=18;DP=18.0;DP4=1,0,2,16;AF1=1.0;MQ=39;IsKnownVariant=0;EFF=INTERGENIC(MODIFIER||||||||);SEL_PRIMARY_EFF;pValue=1.0E-117;Zygosity=HOM;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 91447985 . C T 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,2,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ZNF644|mRNA|CODING|NM_016620|),INTRON(MODIFIER||||ZNF644|mRNA|CODING|NM_032186|),INTRON(MODIFIER||||ZNF644|mRNA|CODING|NM_201269|);SEL_PRIMARY_EFF=0;Gene_Description=91487812;OMIM_ID=OMIM:614159;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 94471075 rs1762114 A G 117.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,9,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|atT/atC|I2023|ABCA4|mRNA|CODING|NM_000350|NM_000350.ex.44);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2300(A);HGVS=(NC_000001.10:g.94471075A>G,NM_000350.2:c.6069T>C,p.I2023I:ATT>ATC);Mutation_cds_syntax=c.6069T>C;Mutation_AA_syntax=p.I2023I;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=16.67;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.6069T>Cp.I2023I;Gene_Description=94586705;OMIM_ID=OMIM:601691;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 94474328 rs4147857 T C 255.0 PASS ALTCOUNT=13;DP=18.0;DP4=5,1,9,4;AF1=0.7222222;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttA/ttG|L1938|ABCA4|mRNA|CODING|NM_000350|NM_000350.ex.41);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=not//\@provided,germline;GLOBAL_MAF=0.1875(C);HGVS=(NC_000001.10:g.94474328T>C,NM_000350.2:c.5814A>G,p.L1938L:TTA>TTG);Mutation_cds_syntax=c.5814A>G;Mutation_AA_syntax=p.L1938L;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=4.17;Tumour_Site_(cosmic)=stomach;HGVS_Syntax(COSMIC)=c.5814A>Gp.L1938L;Gene_Description=94586705;OMIM_ID=OMIM:601691;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 94480037 . C T 255.0 PASS ALTCOUNT=16;DP=17.0;DP4=1,1,12,4;AF1=0.9411765;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ABCA4|mRNA|CODING|NM_000350|);SEL_PRIMARY_EFF=0;Gene_Description=94586705;OMIM_ID=OMIM:601691;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 94495930 . T C 114.0 PASS ALTCOUNT=18;DP=18.0;DP4=1,0,12,6;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ABCA4|mRNA|CODING|NM_000350|);SEL_PRIMARY_EFF=0;Gene_Description=94586705;OMIM_ID=OMIM:601691;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 94576968 rs2297634 T C 255.0 PASS ALTCOUNT=12;DP=33.0;DP4=17,5,10,2;AF1=0.36363637;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ABCA4|mRNA|CODING|NM_000350|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=not//\@provided;ALLELE_ORIGIN=not//\@provided;GLOBAL_MAF=0.4531(T);HGVS=(NC_000001.10:g.94576968T>C,NM_000350.2:c.302+26A>G,);Gene_Description=94586705;OMIM_ID=OMIM:601691;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 94578548 rs4847281 T C 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,11,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P47|ABCA4|mRNA|CODING|NM_000350|NM_000350.ex.2);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=not//\@provided,Benign;ALLELE_ORIGIN=not//\@provided,germline;GLOBAL_MAF=0.0130(T);HGVS=(NC_000001.10:g.94578548T>C,NM_000350.2:c.141G//\&,NP_000341.2:p.(//\&);Gene_Description=94586705;OMIM_ID=OMIM:601691;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 98348885 rs1801265 G A 117.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,6,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=E9PFN1;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000370192,ENST00000306031;dbnsfpSIFT_score=0.180000;dbnsfpGERP++_NR=5.84;dbnsfpGERP++_RS=5.84;dbnsfp29way_logOdds=12.5921;dbnsfp1000Gp1_AF=0.7692307692307693;dbnsfp1000Gp1_AFR_AF=0.5487804878048781;dbnsfp1000Gp1_EUR_AF=0.783641160949868;dbnsfp1000Gp1_AMR_AF=0.7651933701657458;dbnsfp1000Gp1_ASN_AF=0.9423076923076923;dbnsfpESP5400_AA_AF=0.605939;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R29C|DPYD|mRNA|CODING|NM_000110|NM_000110.ex.2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R29C|DPYD|mRNA|CODING|NM_001160301|NM_001160301.ex.2);SEL_PRIMARY_EFF=0;PUBMED_CITATIONS=1;CLINICAL_SIGNIFICANCE=not//\@provided,Pathogenic;ALLELE_ORIGIN=unknown,germline;GLOBAL_MAF=0.2602(G);HGVS=(NC_000001.9:g.98121473G>A,NM_000110.3:c.85T//\&,NP_000101.2:p.Cys29//\&),(,,);Mutation_cds_syntax=c.85C>T;Mutation_AA_syntax=p.R29C;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=1.03,6.25;Tumour_Site_(cosmic)=skin;HGVS_Syntax(COSMIC)=c.85C>Tp.R29C;Gene_Description=98386615;OMIM_ID=OMIM:612779;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 100342227 . C T 117.0 PASS ALTCOUNT=23;DP=23.0;DP4=1,0,11,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000028|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000642|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000643|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000644|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000645|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000646|);SEL_PRIMARY_EFF=0;Gene_Description=100389579;OMIM_ID=OMIM:610860;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 100346741 . T C 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,7,4;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000028|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000642|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000643|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000644|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000645|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000646|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2001+8T>C;Mutation_AA_syntax=p.?;Mutation_Description(COSMIC)=Unknown;Frequency_(cosmic)=1.54;Tumour_Site_(cosmic)=liver;HGVS_Syntax(COSMIC)=c.2001+8T>Cp.?;Gene_Description=100389579;OMIM_ID=OMIM:610860;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 100353675 . G A 117.0 PASS ALTCOUNT=27;DP=27.0;DP4=1,0,9,18;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000028|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000642|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000643|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000644|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000645|),INTRON(MODIFIER||||AGL|mRNA|CODING|NM_000646|);SEL_PRIMARY_EFF=0;Gene_Description=100389579;OMIM_ID=OMIM:610860;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 100361925 . G A 255.0 PASS ALTCOUNT=14;DP=35.0;DP4=9,13,2,12;AF1=0.4;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P35573-2,P35573-3,P35573;dbnsfpInterpro_domain=Six-hairpin_glycosidase-like_(1),;dbnsfpEnsembl_transcriptid=ENST00000361915,ENST00000370165,ENST00000370163,ENST00000294724,ENST00000361302,ENST00000370161,ENST00000361522;dbnsfpSIFT_score=0.000000;dbnsfpGERP++_NR=5.94;dbnsfpGERP++_RS=5.94;dbnsfp29way_logOdds=20.3736;dbnsfp1000Gp1_AF=0.1021062271062271;dbnsfp1000Gp1_AFR_AF=0.006097560975609756;dbnsfp1000Gp1_EUR_AF=0.0712401055408971;dbnsfp1000Gp1_AMR_AF=0.13812154696132597;dbnsfp1000Gp1_ASN_AF=0.20279720279720279;dbnsfpESP5400_AA_AF=0.026217;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1098R|AGL|mRNA|CODING|NM_000645|NM_000645.ex.23),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1099R|AGL|mRNA|CODING|NM_000646|NM_000646.ex.25),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1115R|AGL|mRNA|CODING|NM_000028|NM_000028.ex.25),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1115R|AGL|mRNA|CODING|NM_000642|NM_000642.ex.25),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1115R|AGL|mRNA|CODING|NM_000643|NM_000643.ex.25),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1115R|AGL|mRNA|CODING|NM_000644|NM_000644.ex.25);SEL_PRIMARY_EFF=0;Gene_Description=100389579;OMIM_ID=OMIM:610860;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 100671866 rs34229137 T A 255.0 PASS ALTCOUNT=14;DP=17.0;DP4=2,2,3,11;AF1=0.8235294;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DBT|mRNA|CODING|NM_001918|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2684(A);HGVS=(NC_000001.10:g.100671866T>A,NM_001918.3:c.1210-9A>T,);Gene_Description=100715409;OMIM_ID=OMIM:248610;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 100672060 rs12021720 T C 117.0 PASS ALTCOUNT=24;DP=24.0;DP4=1,0,13,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=F5H1F9;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000543138,ENST00000370132;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.54;dbnsfpGERP++_RS=4.4;dbnsfp29way_logOdds=9.6265;dbnsfp1000Gp1_AF=0.8988095238095238;dbnsfp1000Gp1_AFR_AF=0.7764227642276422;dbnsfp1000Gp1_EUR_AF=0.9063324538258575;dbnsfp1000Gp1_AMR_AF=0.9419889502762431;dbnsfp1000Gp1_ASN_AF=0.9667832167832168;dbnsfpESP5400_AA_AF=0.777689;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agt/Ggt|S384G|DBT|mRNA|CODING|NM_001918|NM_001918.ex.9);SEL_PRIMARY_EFF=0;PUBMED_CITATIONS=1;CLINICAL_SIGNIFICANCE=Pathogenic,Conflicting//\@interpretations//\@of//\@pathogenicity;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1082(T);HGVS=(NC_000001.10:g.100672060T>C,NM_001918.3:c.1150G//\&,NP_001909.3:p.Ser384Gly);Gene_Description=100715409;OMIM_ID=OMIM:248610;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 103352451 . A G 117.0 PASS ALTCOUNT=34;DP=34.0;DP4=1,0,21,13;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|atT/atC|I1474|COL11A1|mRNA|CODING|NM_080630|NM_080630.ex.61),SYNONYMOUS_CODING(LOW|SILENT|atT/atC|I1551|COL11A1|mRNA|CODING|NM_001190709|NM_001190709.ex.62),SYNONYMOUS_CODING(LOW|SILENT|atT/atC|I1590|COL11A1|mRNA|CODING|NM_001854|NM_001854.ex.63),SYNONYMOUS_CODING(LOW|SILENT|atT/atC|I1602|COL11A1|mRNA|CODING|NM_080629|NM_080629.ex.63);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.4770T>C,c.4806T>C;Mutation_AA_syntax=p.I1590I,p.I1602I;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=1.12,14.29,0.28,33.33;Tumour_Site_(cosmic)=liver,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.4770T>Cp.I1590I,c.4806T>Cp.I1602I;Gene_Description=103574052;OMIM_ID=OMIM:120280;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 103354138 rs1676486 A G 117.0 PASS ALTCOUNT=22;DP=22.0;DP4=1,0,15,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=E9PCU0,P12107-3,P12107-2,P12107,F5H5Z5;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000370096,ENST00000358392,ENST00000353414,ENST00000370090,ENST00000512756;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.67;dbnsfpGERP++_RS=5.67;dbnsfp29way_logOdds=14.8898;dbnsfp1000Gp1_AF=0.815018315018315;dbnsfp1000Gp1_AFR_AF=0.8008130081300813;dbnsfp1000Gp1_EUR_AF=0.8271767810026385;dbnsfp1000Gp1_AMR_AF=0.8784530386740331;dbnsfp1000Gp1_ASN_AF=0.7709790209790209;dbnsfpESP5400_AA_AF=0.794275;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S1419P|COL11A1|mRNA|CODING|NM_080630|NM_080630.ex.60),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S1496P|COL11A1|mRNA|CODING|NM_001190709|NM_001190709.ex.61),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S1535P|COL11A1|mRNA|CODING|NM_001854|NM_001854.ex.62),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S1547P|COL11A1|mRNA|CODING|NM_080629|NM_080629.ex.62);SEL_PRIMARY_EFF=0;PUBMED_CITATIONS=1;CLINICAL_SIGNIFICANCE=risk//\@factor;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2171(A);HGVS=(,,),(,,),(NC_000001.10:g.103354138A>G,NM_001854.3:c.4603T>C,NP_001845.3:p.Ser1535Pro),(,,);Gene_Description=103574052;OMIM_ID=OMIM:120280;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 103354428 . A G 117.0 PASS ALTCOUNT=26;DP=26.0;DP4=1,0,9,17;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G1388|COL11A1|mRNA|CODING|NM_080630|NM_080630.ex.58),SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G1465|COL11A1|mRNA|CODING|NM_001190709|NM_001190709.ex.59),SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G1504|COL11A1|mRNA|CODING|NM_001854|NM_001854.ex.60),SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G1516|COL11A1|mRNA|CODING|NM_080629|NM_080629.ex.60);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.4548T>C,c.4512T>C;Mutation_AA_syntax=p.G1516G,p.G1504G;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=25.0,11.11,14.29,1.64,33.33;Tumour_Site_(cosmic)=thyroid,breast,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.4548T>Cp.G1516G,c.4512T>Cp.G1504G;Gene_Description=103574052;OMIM_ID=OMIM:120280;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 103444497 . A G 255.0 PASS ALTCOUNT=14;DP=27.0;DP4=4,10,9,5;AF1=0.5185185;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_001190709|),INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_001854|),INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_080629|),INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_080630|);SEL_PRIMARY_EFF=0;Gene_Description=103574052;OMIM_ID=OMIM:120280;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 103461508 . T A 117.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,7,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_001190709|),INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_001854|),INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_080629|),INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_080630|);SEL_PRIMARY_EFF=0;Gene_Description=103574052;OMIM_ID=OMIM:120280;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 103544191 . C T 255.0 PASS ALTCOUNT=10;DP=22.0;DP4=7,6,7,3;AF1=0.45454547;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_001190709|),INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_001854|),INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_080629|),INTRON(MODIFIER||||COL11A1|mRNA|CODING|NM_080630|);SEL_PRIMARY_EFF=0;Gene_Description=103574052;OMIM_ID=OMIM:120280;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 107979396 . A C 255.0 PASS ALTCOUNT=37;DP=38.0;DP4=1,1,14,23;AF1=0.9736842;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||NTNG1|mRNA|CODING|NM_001113228|),INTRON(MODIFIER||||NTNG1|mRNA|CODING|NM_014917|),SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|G421|NTNG1|mRNA|CODING|NM_001312688|NM_001312688.ex.7),SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|G455|NTNG1|mRNA|CODING|NM_001113226|NM_001113226.ex.6);SEL_PRIMARY_EFF=2;Mutation_cds_syntax=c.1365A>C;Mutation_AA_syntax=p.G455G;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.1365A>Cp.G455G;Gene_Description=108027521;OMIM_ID=OMIM:608818;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 109428249 . G A 255.0 PASS ALTCOUNT=11;DP=20.0;DP4=2,7,4,8;AF1=0.55;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||GPSM2|mRNA|CODING|NM_013296|);SEL_PRIMARY_EFF=0;Gene_Description=109473044;OMIM_ID=OMIM:609245;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 109465165 . ACTT A 255.0 Pass ALTCOUNT=015;DP=29;DP4=5,8,9,6;STDP4=29,0,15,0;AF1=0.51724136;;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=CODON_DELETION(MODERATE||acttct/act|TS523T|GPSM2|mRNA|CODING|NM_013296|NM_013296.ex.13);SEL_PRIMARY_EFF=0;Gene_Description=109473044;OMIM_ID=OMIM:609245;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,12,29:10 chr1 109771063 . T C 117.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,6,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||SARS|mRNA|CODING|NM_006513|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.288+9T>C;Mutation_AA_syntax=p.?;Mutation_Description(COSMIC)=Unknown;Frequency_(cosmic)=3.85,16.67;Tumour_Site_(cosmic)=liver;HGVS_Syntax(COSMIC)=c.288+9T>Cp.?;Gene_Description=109780804;OMIM_ID=OMIM:607529;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 109778577 . T C 114.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,12,2;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||SARS|mRNA|CODING|NM_006513|);SEL_PRIMARY_EFF=0;Gene_Description=109780804;OMIM_ID=OMIM:607529;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 109779556 . T A 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,1,13;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||SARS|mRNA|CODING|NM_006513|);SEL_PRIMARY_EFF=0;Gene_Description=109780804;OMIM_ID=OMIM:607529;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 110148974 . C T 117.0 PASS ALTCOUNT=42;DP=42.0;DP4=1,0,30,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T182|GNAT2|mRNA|CODING|NM_005272|NM_005272.ex.5);SEL_PRIMARY_EFF=0;Gene_Description=110155705;OMIM_ID=OMIM:139340;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 110740931 . G A 255.0 PASS ALTCOUNT=18;DP=32.0;DP4=8,7,7,11;AF1=0.5625;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E683|SLC6A17|mRNA|CODING|NM_001010898|NM_001010898.ex.12);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2049G>A;Mutation_AA_syntax=p.E683E;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.2049G>Ap.E683E;Gene_Description=110744823;OMIM_ID=OMIM:610299;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 114443035 rs3789613 C G 255.0 PASS ALTCOUNT=13;DP=19.0;DP4=1,6,1,12;AF1=0.68421054;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||AP4B1|mRNA|CODING|NM_001253852|),INTRON(MODIFIER||||AP4B1|mRNA|CODING|NM_001253853|),INTRON(MODIFIER||||AP4B1|mRNA|CODING|NM_001308312|),INTRON(MODIFIER||||AP4B1|mRNA|CODING|NM_006594|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q304E|AP4B1-AS1|Non-coding_transcript|NON_CODING|NR_037864|NR_037864.ex.5),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q360E|AP4B1-AS1|Non-coding_transcript|NON_CODING|NR_125965|NR_125965.ex.5),UPSTREAM(MODIFIER||||DCLRE1B|mRNA|CODING|NM_022836|);SEL_PRIMARY_EFF=4;CLINICAL_SIGNIFICANCE=Likely//\@benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3656(G);HGVS=(,,),(,,),(,,),(NC_000001.10:g.114443035C>G,NM_006594.4:c.618-13G>C,),(,,),(,,),(,,);Gene_Description=114443859,114447746;OMIM_ID=;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 114940632 . CA C 255.0 Pass ALTCOUNT=017;DP=22;DP4=2,2,3,14;STDP4=22,0,17,0;AF1=0.77272725;;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||TRIM33|mRNA|CODING|NM_015906|),INTRON(MODIFIER||||TRIM33|mRNA|CODING|NM_033020|);SEL_PRIMARY_EFF=0;Gene_Description=115053781;OMIM_ID=OMIM:605769;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,8,11:10 chr1 114948281 . A G 117.0 PASS ALTCOUNT=25;DP=25.0;DP4=1,0,12,13;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=E7EN20,B3KN30,Q9UPN9-2,Q9UPN9;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000358465,ENST00000369543,ENST00000450349;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.29;dbnsfpGERP++_RS=4.35;dbnsfp29way_logOdds=10.7252;dbnsfp1000Gp1_AF=0.8388278388278388;dbnsfp1000Gp1_AFR_AF=0.9817073170731707;dbnsfp1000Gp1_EUR_AF=0.9379947229551451;dbnsfp1000Gp1_AMR_AF=0.8093922651933702;dbnsfp1000Gp1_ASN_AF=0.6031468531468531;dbnsfpESP5400_AA_AF=0.971108;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I840T|TRIM33|mRNA|CODING|NM_015906|NM_015906.ex.15),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I840T|TRIM33|mRNA|CODING|NM_033020|NM_033020.ex.15);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2519T>C;Mutation_AA_syntax=p.I840T;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=12.5;Tumour_Site_(cosmic)=skin;HGVS_Syntax(COSMIC)=c.2519T>Cp.I840T;GWASCAT=Autism;Gene_Description=115053781;OMIM_ID=OMIM:605769;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 115222237 rs34526199 T A 255.0 PASS ALTCOUNT=11;DP=27.0;DP4=9,8,2,9;AF1=0.4074074;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q5TF02,P23109;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000520113,ENST00000369538,ENST00000353928;dbnsfpSIFT_score=0.000000;dbnsfpGERP++_NR=5.63;dbnsfpGERP++_RS=5.63;dbnsfp29way_logOdds=16.1485;dbnsfp1000Gp1_AF=0.018772893772893772;dbnsfp1000Gp1_AFR_AF=0.0;dbnsfp1000Gp1_EUR_AF=0.04617414248021108;dbnsfp1000Gp1_AMR_AF=0.016574585635359115;dbnsfp1000Gp1_ASN_AF=0.0;dbnsfpESP5400_AA_AF=0.00535;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aTa|K316I|AMPD1|mRNA|CODING|NM_001172626|NM_001172626.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aTa|K320I|AMPD1|mRNA|CODING|NM_000036|NM_000036.ex.7);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Pathogenic;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0110(A);HGVS=(,,),(NC_000001.10:g.115222237T>A,NM_000036.2:c.959A>T,NP_000027.2:p.Lys320Ile);Mutation_cds_syntax=c.959A>T,c.860A>T;Mutation_AA_syntax=p.K320I,p.K287I;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=2.94,1.23;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.959A>Tp.K320I,c.860A>Tp.K287I;Gene_Description=115238239;OMIM_ID=OMIM:102770;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 115576023 . A G 117.0 PASS ALTCOUNT=20;DP=20.0;DP4=1,0,13,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P01222;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000256592,ENST00000369517;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.96;dbnsfpGERP++_RS=-1.69;dbnsfp29way_logOdds=2.1733;dbnsfp1000Gp1_AF=0.9853479853479854;dbnsfp1000Gp1_AFR_AF=0.9979674796747967;dbnsfp1000Gp1_EUR_AF=0.9604221635883905;dbnsfp1000Gp1_AMR_AF=0.9972375690607734;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.993847;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T14A|TSHB|mRNA|CODING|NM_000549|NM_000549.ex.2),UPSTREAM(MODIFIER||||TSHB|mRNA|CODING|NM_001277991|);SEL_PRIMARY_EFF=0;Gene_Description=115576930;OMIM_ID=OMIM:188540;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 115829313 . G A 255.0 PASS ALTCOUNT=16;DP=40.0;DP4=15,10,9,7;AF1=0.4;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P01138;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000369512;dbnsfpSIFT_score=0.030000;dbnsfpGERP++_NR=5.36;dbnsfpGERP++_RS=4.45;dbnsfp29way_logOdds=5.8933;dbnsfp1000Gp1_AF=0.30540293040293043;dbnsfp1000Gp1_AFR_AF=0.16463414634146342;dbnsfp1000Gp1_EUR_AF=0.46965699208443273;dbnsfp1000Gp1_AMR_AF=0.39226519337016574;dbnsfp1000Gp1_ASN_AF=0.15384615384615385;dbnsfpESP5400_AA_AF=0.215891;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A35V|NGF|mRNA|CODING|NM_002506|NM_002506.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.104C>T;Mutation_AA_syntax=p.A35V;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=7.41,4.35,70.0;Tumour_Site_(cosmic)=large_intestine,skin,soft_tissue;HGVS_Syntax(COSMIC)=c.104C>Tp.A35V;Gene_Description=115880857;OMIM_ID=OMIM:162030;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 116206423 . G A 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,9,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TAA9-2,Q8TAA9;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000355485,ENST00000369510,ENST00000310260,ENST00000369509;dbnsfpSIFT_score=0.460000;dbnsfpGERP++_NR=4.81;dbnsfpGERP++_RS=3.9;dbnsfp29way_logOdds=13.4342;dbnsfp1000Gp1_AF=0.13278388278388278;dbnsfp1000Gp1_AFR_AF=0.0508130081300813;dbnsfp1000Gp1_EUR_AF=0.14643799472295516;dbnsfp1000Gp1_AMR_AF=0.20994475138121546;dbnsfp1000Gp1_ASN_AF=0.13636363636363635;dbnsfpESP5400_AA_AF=0.069556;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A114T|VANGL1|mRNA|CODING|NM_001172411|NM_001172411.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A116T|VANGL1|mRNA|CODING|NM_001172412|NM_001172412.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A116T|VANGL1|mRNA|CODING|NM_138959|NM_138959.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.346G>A;Mutation_AA_syntax=p.A116T;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=2.63,2.17,4.76;Tumour_Site_(cosmic)=liver,large_intestine,skin;HGVS_Syntax(COSMIC)=c.346G>Ap.A116T;Gene_Description=116240845;OMIM_ID=OMIM:610132;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 119466275 . A G 117.0 PASS ALTCOUNT=21;DP=21.0;DP4=1,0,7,14;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||TBX15|mRNA|CODING|NM_152380|);SEL_PRIMARY_EFF=0;Gene_Description=119532179;OMIM_ID=OMIM:604127;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 120057158 . C T 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,9,4;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L338|HSD3B1|mRNA|CODING|NM_000862|NM_000862.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1012C>T;Mutation_AA_syntax=p.L338L;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=20.0,50.0,3.23;Tumour_Site_(cosmic)=liver,thyroid,large_intestine;HGVS_Syntax(COSMIC)=c.1012C>Tp.L338L;Gene_Description=120057681;OMIM_ID=OMIM:109715;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 120057246 . C A 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,6,10;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q5TDG2,P14060;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000369413,ENST00000235547,ENST00000528909;dbnsfpSIFT_score=0.370000;dbnsfpGERP++_NR=3.26;dbnsfpGERP++_RS=-0.043;dbnsfp29way_logOdds=4.8389;dbnsfp1000Gp1_AF=0.8035714285714286;dbnsfp1000Gp1_AFR_AF=0.9207317073170732;dbnsfp1000Gp1_EUR_AF=0.6662269129287599;dbnsfp1000Gp1_AMR_AF=0.7596685082872928;dbnsfp1000Gp1_ASN_AF=0.9125874125874126;dbnsfpESP5400_AA_AF=0.876874;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T367N|HSD3B1|mRNA|CODING|NM_000862|NM_000862.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1100C>A;Mutation_AA_syntax=p.T367N;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=3.23,20.0;Tumour_Site_(cosmic)=large_intestine,liver;HGVS_Syntax(COSMIC)=c.1100C>Ap.T367N;Gene_Description=120057681;OMIM_ID=OMIM:109715;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 120458924 . G A 255.0 PASS ALTCOUNT=19;DP=35.0;DP4=8,9,5,14;AF1=0.54285717;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L2141|NOTCH2|mRNA|CODING|NM_024408|NM_024408.ex.34);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6421C>T;Mutation_AA_syntax=p.L2141L;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=0.9,13.64;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,soft_tissue;HGVS_Syntax(COSMIC)=c.6421C>Tp.L2141L;Gene_Description=120612317;OMIM_ID=OMIM:600275;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 120477998 . C A 255.0 PASS ALTCOUNT=12;DP=15.0;DP4=3,1,8,4;AF1=0.8;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||NOTCH2|mRNA|CODING|NM_024408|),UTR_3_PRIME(MODIFIER||||NOTCH2|mRNA|CODING|NM_001200001|NM_001200001.ex.22);SEL_PRIMARY_EFF=0;Gene_Description=120612317;OMIM_ID=OMIM:600275;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 145281543 . C T 255.0 PASS ALTCOUNT=17;DP=65.0;DP4=22,27,10,7;AF1=0.26153848;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q7Z3S9-2,Q7Z3S9;dbnsfpInterpro_domain=EGF-like_calcium-binding,_conserved_site_(1),EGF-like_calcium-binding_(2),Epidermal_growth_factor-like,_type_3_(1),;dbnsfpEnsembl_transcriptid=ENST00000362074,ENST00000344859,ENST00000369340;dbnsfpSIFT_score=0.060000;dbnsfpGERP++_NR=2.87;dbnsfpGERP++_RS=1.87;dbnsfp29way_logOdds=8.5858;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.316479;EFF=INTRON(MODIFIER||||NBPF20|mRNA|CODING|NM_001278267|),INTRON(MODIFIER||||NBPF9|mRNA|CODING|NM_001277444.2|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T158I|NOTCH2NL|mRNA|CODING|NM_203458|NM_203458.ex.4);SEL_PRIMARY_EFF=2;Mutation_cds_syntax=c.473C>T;Mutation_AA_syntax=p.T158I;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=28.57,95.65;Tumour_Site_(cosmic)=thyroid,upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.473C>Tp.T158I;Gene_Description=146467744,145286270,145370304;OMIM_ID=;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 150529322 . T TAA 255.0 Pass ALTCOUNT=011;DP=11;DP4=3,7,4,8;STDP4=11,0,11,0;AF1=1.0;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||ADAMTSL4-AS1|Non-coding_transcript|NON_CODING|NR_104133|),DOWNSTREAM(MODIFIER||||MIR4257|Non-coding_transcript|NON_CODING|NR_036211|),INTRON(MODIFIER||||ADAMTSL4|mRNA|CODING|NM_001288607|),INTRON(MODIFIER||||ADAMTSL4|mRNA|CODING|NM_001288608|),INTRON(MODIFIER||||ADAMTSL4|mRNA|CODING|NM_019032|),INTRON(MODIFIER||||ADAMTSL4|mRNA|CODING|NM_025008|);SEL_PRIMARY_EFF=2;Gene_Description=150533412;OMIM_ID=OMIM:610113;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 150531050 . G A 117.0 PASS ALTCOUNT=30;DP=30.0;DP4=1,0,14,16;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||ADAMTSL4-AS1|Non-coding_transcript|NON_CODING|NR_104133|),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P789|ADAMTSL4|mRNA|CODING|NM_001288607|NM_001288607.ex.16),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P828|ADAMTSL4|mRNA|CODING|NM_019032|NM_019032.ex.15),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P828|ADAMTSL4|mRNA|CODING|NM_025008|NM_025008.ex.15),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P851|ADAMTSL4|mRNA|CODING|NM_001288608|NM_001288608.ex.16);SEL_PRIMARY_EFF=1;Mutation_cds_syntax=c.2484G>A;Mutation_AA_syntax=p.P828P;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=4.35,4.17,1.52;Tumour_Site_(cosmic)=large_intestine,breast;HGVS_Syntax(COSMIC)=c.2484G>Ap.P828P;Gene_Description=150533412;OMIM_ID=OMIM:610113;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 150531170 . C T 114.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,3,12;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||ADAMTSL4-AS1|Non-coding_transcript|NON_CODING|NR_104133|),INTRON(MODIFIER||||ADAMTSL4|mRNA|CODING|NM_001288607|),INTRON(MODIFIER||||ADAMTSL4|mRNA|CODING|NM_001288608|),INTRON(MODIFIER||||ADAMTSL4|mRNA|CODING|NM_019032|),SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H868|ADAMTSL4|mRNA|CODING|NM_025008|NM_025008.ex.15);SEL_PRIMARY_EFF=4;Mutation_cds_syntax=c.2604C>T;Mutation_AA_syntax=p.H868H;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.2604C>Tp.H868H;Gene_Description=150533412;OMIM_ID=OMIM:610113;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 150771703 . T C 114.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,9,8;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|A277|CTSK|mRNA|CODING|NM_000396|NM_000396.ex.7);SEL_PRIMARY_EFF=0;Gene_Description=150780917;OMIM_ID=OMIM:601105;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 150779755 . C T 117.0 PASS ALTCOUNT=26;DP=26.0;DP4=1,0,14,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000443913;dbnsfpSIFT_score=0.540000;dbnsfpGERP++_NR=3.38;dbnsfpGERP++_RS=2.26;dbnsfp29way_logOdds=4.9934;dbnsfp1000Gp1_AF=0.9867216117216118;dbnsfp1000Gp1_AFR_AF=0.9491869918699187;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=0.988950276243094;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||ARNT|mRNA|CODING|NM_001197325|),DOWNSTREAM(MODIFIER||||ARNT|mRNA|CODING|NM_001286035|),DOWNSTREAM(MODIFIER||||ARNT|mRNA|CODING|NM_001286036|),DOWNSTREAM(MODIFIER||||ARNT|mRNA|CODING|NM_001668|),DOWNSTREAM(MODIFIER||||ARNT|mRNA|CODING|NM_178427|),INTRON(MODIFIER||||CTSK|mRNA|CODING|NM_000396|);SEL_PRIMARY_EFF=5;Gene_Description=150780917;OMIM_ID=OMIM:601105;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 151316161 . G A 117.0 PASS ALTCOUNT=22;DP=22.0;DP4=1,0,17,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L251|RFX5|mRNA|CODING|NM_000449|NM_000449.ex.9),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L251|RFX5|mRNA|CODING|NM_001025603|NM_001025603.ex.9),UPSTREAM(MODIFIER||||GBAT2|Non-coding_transcript|NON_CODING|NR_131972|);SEL_PRIMARY_EFF=0;Gene_Description=151319769;OMIM_ID=OMIM:601863;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152276149 . C T 255.0 PASS ALTCOUNT=54;DP=55.0;DP4=2,0,26,28;AF1=0.9818182;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.270000;dbnsfpGERP++_NR=3.5;dbnsfpGERP++_RS=-2.2;dbnsfp29way_logOdds=4.1707;dbnsfp1000Gp1_AF=0.2600732600732601;dbnsfp1000Gp1_AFR_AF=0.02032520325203252;dbnsfp1000Gp1_EUR_AF=0.14643799472295516;dbnsfp1000Gp1_AMR_AF=0.32320441988950277;dbnsfp1000Gp1_ASN_AF=0.5769230769230769;dbnsfpESP5400_AA_AF=0.039058;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R3738H|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.11213G>A;Mutation_AA_syntax=p.R3738H;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29,5.56;Tumour_Site_(cosmic)=thyroid,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.11213G>Ap.R3738H;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152276282 . C G 255.0 PASS ALTCOUNT=28;DP=75.0;DP4=22,26,23,5;AF1=0.37333333;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.430000;dbnsfpGERP++_NR=2.52;dbnsfpGERP++_RS=-3.46;dbnsfp29way_logOdds=0.3502;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.04015;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E3694Q|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.11080G>C;Mutation_AA_syntax=p.E3694Q;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=3.21,0.67;Tumour_Site_(cosmic)=upper_aerodigestive_tract,skin;HGVS_Syntax(COSMIC)=c.11080G>Cp.E3694Q;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152276377 . C G 255.0 PASS ALTCOUNT=43;DP=93.0;DP4=30,21,26,17;AF1=0.4623656;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.340000;dbnsfpGERP++_NR=4.62;dbnsfpGERP++_RS=-2.36;dbnsfp29way_logOdds=3.5688;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.008315;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S3662T|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10985G>C;Mutation_AA_syntax=p.S3662T;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=1.34,1.92;Tumour_Site_(cosmic)=skin,upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.10985G>Cp.S3662T;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152276459 . C T 255.0 PASS ALTCOUNT=54;DP=109.0;DP4=26,30,25,29;AF1=0.49541286;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.440000;dbnsfpGERP++_NR=4.42;dbnsfpGERP++_RS=4.42;dbnsfp29way_logOdds=12.7702;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.030262;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3635N|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10903G>A;Mutation_AA_syntax=p.D3635N;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.10903G>Ap.D3635N;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152276583 . C G 255.0 PASS ALTCOUNT=20;DP=32.0;DP4=2,11,12,8;AF1=0.625;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.950000;dbnsfpGERP++_NR=3.48;dbnsfpGERP++_RS=2.54;dbnsfp29way_logOdds=9.8829;dbnsfp1000Gp1_AF=0.2838827838827839;dbnsfp1000Gp1_AFR_AF=0.41260162601626016;dbnsfp1000Gp1_EUR_AF=0.10817941952506596;dbnsfp1000Gp1_AMR_AF=0.23204419889502761;dbnsfp1000Gp1_ASN_AF=0.4388111888111888;dbnsfpESP5400_AA_AF=0.371322;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E3593D|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10779G>C;Mutation_AA_syntax=p.E3593D;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=1.39,28.57,100.0,1.25;Tumour_Site_(cosmic)=pancreas,thyroid,liver;HGVS_Syntax(COSMIC)=c.10779G>Cp.E3593D;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152276598 . G A 255.0 PASS ALTCOUNT=24;DP=25.0;DP4=2,0,10,14;AF1=0.96;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H3588|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10764C>T;Mutation_AA_syntax=p.H3588H;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=5.56,14.29;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,thyroid;HGVS_Syntax(COSMIC)=c.10764C>Tp.H3588H;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152276626 . G C 255.0 PASS ALTCOUNT=18;DP=19.0;DP4=2,0,15,3;AF1=0.94736844;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.620000;dbnsfpGERP++_NR=2.29;dbnsfpGERP++_RS=-2.52;dbnsfp29way_logOdds=4.0484;dbnsfp1000Gp1_AF=0.2834249084249084;dbnsfp1000Gp1_AFR_AF=0.3699186991869919;dbnsfp1000Gp1_EUR_AF=0.09366754617414248;dbnsfp1000Gp1_AMR_AF=0.2596685082872928;dbnsfp1000Gp1_ASN_AF=0.4755244755244755;dbnsfpESP5400_AA_AF=0.254438;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T3579R|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10736C>G;Mutation_AA_syntax=p.T3579R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.56,14.29;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,thyroid;HGVS_Syntax(COSMIC)=c.10736C>Gp.T3579R;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,245,240:10 chr1 152276671 . C T 255.0 PASS ALTCOUNT=17;DP=58.0;DP4=27,15,16,1;AF1=0.29310346;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.710000;dbnsfpGERP++_NR=2.89;dbnsfpGERP++_RS=-5.77;dbnsfp29way_logOdds=4.6793;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R3564H|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10691G>A;Mutation_AA_syntax=p.R3564H;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=3.45,28.57,5.13;Tumour_Site_(cosmic)=skin,thyroid,upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.10691G>Ap.R3564H;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152276699 . A G 255.0 PASS ALTCOUNT=51;DP=73.0;DP4=20,3,22,29;AF1=0.69863015;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.520000;dbnsfpGERP++_NR=2.05;dbnsfpGERP++_RS=-1.37;dbnsfp29way_logOdds=3.8418;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.131354;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W3555R|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10663T>C;Mutation_AA_syntax=p.W3555R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.77,42.86;Tumour_Site_(cosmic)=upper_aerodigestive_tract,thyroid;HGVS_Syntax(COSMIC)=c.10663T>Cp.W3555R;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152276761 . T C 219.0 PASS ALTCOUNT=13;DP=70.0;DP4=34,24,0,13;AF1=0.18571429;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.740000;dbnsfpGERP++_NR=3.11;dbnsfpGERP++_RS=-6.21;dbnsfp29way_logOdds=7.5345;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N3534S|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10601A>G;Mutation_AA_syntax=p.N3534S;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.64;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.10601A>Gp.N3534S;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-219;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,0:10 chr1 152276762 . T G 224.0 PASS ALTCOUNT=13;DP=65.0;DP4=33,20,0,13;AF1=0.2;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.180000;dbnsfpGERP++_NR=3.11;dbnsfpGERP++_RS=-6.21;dbnsfp29way_logOdds=6.3014;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Cac|N3534H|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10600A>T;Mutation_AA_syntax=p.N3534Y;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.64;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.10600A>Tp.N3534Y;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-224;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,0:10 chr1 152276770 . G C 219.0 PASS ALTCOUNT=12;DP=65.0;DP4=34,20,0,12;AF1=0.18461539;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.290000;dbnsfpGERP++_NR=3.63;dbnsfpGERP++_RS=0.029;dbnsfp29way_logOdds=5.7638;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T3531R|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10592C>G;Mutation_AA_syntax=p.T3531R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.29;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.10592C>Gp.T3531R;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-219;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,0:10 chr1 152276772 . C A 255.0 PASS ALTCOUNT=41;DP=55.0;DP4=2,13,19,22;AF1=0.74545455;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.690000;dbnsfpGERP++_NR=3.63;dbnsfpGERP++_RS=-2.97;dbnsfp29way_logOdds=4.3032;dbnsfp1000Gp1_AF=0.26877289377289376;dbnsfp1000Gp1_AFR_AF=0.018292682926829267;dbnsfp1000Gp1_EUR_AF=0.14775725593667546;dbnsfp1000Gp1_AMR_AF=0.3287292817679558;dbnsfp1000Gp1_ASN_AF=0.6066433566433567;dbnsfpESP5400_AA_AF=0.038791;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agG/agT|R3530S|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10590G>T;Mutation_AA_syntax=p.R3530S;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.56;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.10590G>Tp.R3530S;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152276871 . A G 117.0 PASS ALTCOUNT=55;DP=55.0;DP4=1,0,31,24;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D3497|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10491T>C;Mutation_AA_syntax=p.D3497D;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=14.29,5.56;Tumour_Site_(cosmic)=thyroid,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.10491T>Cp.D3497D;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152276889 . A G 114.0 PASS ALTCOUNT=54;DP=54.0;DP4=1,0,34,20;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N3491|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10473T>C;Mutation_AA_syntax=p.N3491N;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=5.56;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.10473T>Cp.N3491N;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152277055 . C G 255.0 PASS ALTCOUNT=49;DP=61.0;DP4=8,4,20,30;AF1=0.8032787;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.470000;dbnsfpGERP++_NR=3.31;dbnsfpGERP++_RS=-1.14;dbnsfp29way_logOdds=3.0433;dbnsfp1000Gp1_AF=0.43452380952380953;dbnsfp1000Gp1_AFR_AF=0.7215447154471545;dbnsfp1000Gp1_EUR_AF=0.1517150395778364;dbnsfp1000Gp1_AMR_AF=0.3784530386740331;dbnsfp1000Gp1_ASN_AF=0.5979020979020979;dbnsfpESP5400_AA_AF=0.678973;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gCa|G3436A|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10307G>C;Mutation_AA_syntax=p.G3436A;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.10307G>Cp.G3436A;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152277168 . A G 255.0 PASS ALTCOUNT=51;DP=52.0;DP4=1,1,33,18;AF1=0.9807692;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S3398|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10194T>C;Mutation_AA_syntax=p.S3398S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=5.56,14.29;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,thyroid;HGVS_Syntax(COSMIC)=c.10194T>Cp.S3398S;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152277345 . C T 117.0 PASS ALTCOUNT=70;DP=70.0;DP4=1,0,43,27;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caG/caA|Q3339|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.10017G>A;Mutation_AA_syntax=p.Q3339Q;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=14.29,5.56;Tumour_Site_(cosmic)=thyroid,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.10017G>Ap.Q3339Q;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152277396 . T C 117.0 PASS ALTCOUNT=71;DP=71.0;DP4=1,0,28,43;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q3322|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152277717 . C A 117.0 PASS ALTCOUNT=73;DP=73.0;DP4=1,0,28,45;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtG/gtT|V3215|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152277826 . A C 114.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,7,3;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.580000;dbnsfpGERP++_NR=2.4;dbnsfpGERP++_RS=1.39;dbnsfp29way_logOdds=4.6308;dbnsfp1000Gp1_AF=0.31776556776556775;dbnsfp1000Gp1_AFR_AF=0.4369918699186992;dbnsfp1000Gp1_EUR_AF=0.10290237467018469;dbnsfp1000Gp1_AMR_AF=0.292817679558011;dbnsfp1000Gp1_ASN_AF=0.5157342657342657;dbnsfpESP5400_AA_AF=0.385193;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gGg|V3179G|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152278555 . T C 255.0 PASS ALTCOUNT=53;DP=141.0;DP4=49,40,32,21;AF1=0.37588653;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.390000;dbnsfpGERP++_NR=1.29;dbnsfpGERP++_RS=1.29;dbnsfp29way_logOdds=4.7721;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.074952;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D2936G|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.8807A>G;Mutation_AA_syntax=p.D2936G;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.56,3.85,5.0,1.39,1.25,3.45;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,ovary,cervix,pancreas,liver,skin;HGVS_Syntax(COSMIC)=c.8807A>Gp.D2936G;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152278689 . C A 117.0 PASS ALTCOUNT=149;DP=149.0;DP4=1,0,67,82;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtG/gtT|V2891|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152278814 . C T 236.0 PASS ALTCOUNT=49;DP=217.0;DP4=85,83,24,26;AF1=0.22580644;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799,ENST00000368796;dbnsfpSIFT_score=0.560000;dbnsfpGERP++_NR=3.42;dbnsfpGERP++_RS=-3.91;dbnsfp29way_logOdds=8.0549;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.082787;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G2850S|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.8548G>A;Mutation_AA_syntax=p.G2850S;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=28.57,5.56;Tumour_Site_(cosmic)=thyroid,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.8548G>Ap.G2850S;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-236;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,224,255:10 chr1 152278856 . T G 255.0 PASS ALTCOUNT=69;DP=215.0;DP4=84,63,34,35;AF1=0.32093024;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799,ENST00000368796;dbnsfpSIFT_score=0.300000;dbnsfpGERP++_NR=1.87;dbnsfpGERP++_RS=-0.845;dbnsfp29way_logOdds=2.3761;dbnsfp1000Gp1_AF=0.19184981684981686;dbnsfp1000Gp1_AFR_AF=0.016260162601626018;dbnsfp1000Gp1_EUR_AF=0.11477572559366754;dbnsfp1000Gp1_AMR_AF=0.2541436464088398;dbnsfp1000Gp1_ASN_AF=0.40559440559440557;dbnsfpESP5400_AA_AF=0.03308;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agt/Cgt|S2836R|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,233,255:10 chr1 152279019 . G A 255.0 PASS ALTCOUNT=52;DP=181.0;DP4=60,70,22,30;AF1=0.2872928;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D2781|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.8343C>T;Mutation_AA_syntax=p.D2781D;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=42.86,3.85;Tumour_Site_(cosmic)=thyroid,ovary;HGVS_Syntax(COSMIC)=c.8343C>Tp.D2781D;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,238,255:10 chr1 152279527 . T C 235.0 PASS ALTCOUNT=36;DP=133.0;DP4=51,45,13,25;AF1=0.2706767;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.650000;dbnsfpGERP++_NR=1.54;dbnsfpGERP++_RS=0.239;dbnsfp29way_logOdds=3.7345;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D2612G|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-235;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,252,255:10 chr1 152279729 . C T 117.0 PASS ALTCOUNT=63;DP=63.0;DP4=1,0,37,26;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.570000;dbnsfpGERP++_NR=1.97;dbnsfpGERP++_RS=0.755;dbnsfp29way_logOdds=4.4439;dbnsfp1000Gp1_AF=0.40384615384615385;dbnsfp1000Gp1_AFR_AF=0.5203252032520326;dbnsfp1000Gp1_EUR_AF=0.17546174142480211;dbnsfp1000Gp1_AMR_AF=0.3729281767955801;dbnsfp1000Gp1_ASN_AF=0.6258741258741258;dbnsfpESP5400_AA_AF=0.496785;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G2545R|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.7633G>A;Mutation_AA_syntax=p.G2545R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.56;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.7633G>Ap.G2545R;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152279841 . G C 117.0 PASS ALTCOUNT=69;DP=69.0;DP4=1,0,35,34;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.640000;dbnsfpGERP++_NR=2.43;dbnsfpGERP++_RS=-4.87;dbnsfp29way_logOdds=8.373;dbnsfp1000Gp1_AF=0.39606227106227104;dbnsfp1000Gp1_AFR_AF=0.48577235772357724;dbnsfp1000Gp1_EUR_AF=0.1741424802110818;dbnsfp1000Gp1_AMR_AF=0.3756906077348066;dbnsfp1000Gp1_ASN_AF=0.6258741258741258;dbnsfpESP5400_AA_AF=0.464152;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caG|H2507Q|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152279920 . A G 117.0 PASS ALTCOUNT=78;DP=78.0;DP4=1,0,40,38;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=3.18;dbnsfpGERP++_RS=-1.66;dbnsfp29way_logOdds=4.5928;dbnsfp1000Gp1_AF=0.31135531135531136;dbnsfp1000Gp1_AFR_AF=0.13821138211382114;dbnsfp1000Gp1_EUR_AF=0.17282321899736147;dbnsfp1000Gp1_AMR_AF=0.3453038674033149;dbnsfp1000Gp1_ASN_AF=0.6223776223776224;dbnsfpESP5400_AA_AF=0.14152;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tCg|L2481S|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.7442T>C;Mutation_AA_syntax=p.L2481S;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29,5.56;Tumour_Site_(cosmic)=thyroid,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.7442T>Cp.L2481S;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152280032 . T C 117.0 PASS ALTCOUNT=58;DP=58.0;DP4=1,0,27,31;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.1;dbnsfpGERP++_RS=2.1;dbnsfp29way_logOdds=3.9847;dbnsfp1000Gp1_AF=0.2683150183150183;dbnsfp1000Gp1_AFR_AF=0.10365853658536585;dbnsfp1000Gp1_EUR_AF=0.1437994722955145;dbnsfp1000Gp1_AMR_AF=0.2955801104972376;dbnsfp1000Gp1_ASN_AF=0.5576923076923077;dbnsfpESP5400_AA_AF=0.141252;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K2444E|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.7330A>G;Mutation_AA_syntax=p.K2444E;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.56;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.7330A>Gp.K2444E;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152280170 . C G 255.0 PASS ALTCOUNT=62;DP=88.0;DP4=21,6,31,31;AF1=0.70454544;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799,ENST00000271820;dbnsfpSIFT_score=0.240000;dbnsfpGERP++_NR=3.76;dbnsfpGERP++_RS=-3.46;dbnsfp29way_logOdds=4.314;dbnsfp1000Gp1_AF=0.27564102564102566;dbnsfp1000Gp1_AFR_AF=0.13008130081300814;dbnsfp1000Gp1_EUR_AF=0.16886543535620052;dbnsfp1000Gp1_AMR_AF=0.32044198895027626;dbnsfp1000Gp1_ASN_AF=0.513986013986014;dbnsfpESP5400_AA_AF=0.136242;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E2398Q|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.7192G>C;Mutation_AA_syntax=p.E2398Q;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=28.57,5.56;Tumour_Site_(cosmic)=thyroid,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.7192G>Cp.E2398Q;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152280265 . C G 255.0 PASS ALTCOUNT=29;DP=73.0;DP4=19,26,13,16;AF1=0.39726028;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799,ENST00000271820;dbnsfpSIFT_score=0.020000;dbnsfpGERP++_NR=3.78;dbnsfpGERP++_RS=2.84;dbnsfp29way_logOdds=8.7127;dbnsfp1000Gp1_AF=0.25045787545787546;dbnsfp1000Gp1_AFR_AF=0.018292682926829267;dbnsfp1000Gp1_EUR_AF=0.16226912928759896;dbnsfp1000Gp1_AMR_AF=0.30939226519337015;dbnsfp1000Gp1_ASN_AF=0.5297202797202797;dbnsfpESP5400_AA_AF=0.035946;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S2366T|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.7097G>C;Mutation_AA_syntax=p.S2366T;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=1.25;Tumour_Site_(cosmic)=liver;HGVS_Syntax(COSMIC)=c.7097G>Cp.S2366T;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152280347 . C T 255.0 PASS ALTCOUNT=20;DP=35.0;DP4=6,10,9,11;AF1=0.5714286;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799,ENST00000271820;dbnsfpSIFT_score=0.020000;dbnsfpGERP++_NR=4.12;dbnsfpGERP++_RS=4.12;dbnsfp29way_logOdds=12.0996;dbnsfp1000Gp1_AF=0.1978021978021978;dbnsfp1000Gp1_AFR_AF=0.012195121951219513;dbnsfp1000Gp1_EUR_AF=0.12005277044854881;dbnsfp1000Gp1_AMR_AF=0.24861878453038674;dbnsfp1000Gp1_ASN_AF=0.42832167832167833;dbnsfpESP5400_AA_AF=0.018001;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D2339N|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.7015G>A;Mutation_AA_syntax=p.D2339N;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=10.81,1.39,1.06,1.25;Tumour_Site_(cosmic)=prostate,pancreas,stomach,liver;HGVS_Syntax(COSMIC)=c.7015G>Ap.D2339N;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152280372 . G A 117.0 PASS ALTCOUNT=25;DP=26.0;DP4=1,0,24,2;AF1=0.96153843;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H2330|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6990C>T;Mutation_AA_syntax=p.H2330H;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=14.29,5.56;Tumour_Site_(cosmic)=thyroid,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.6990C>Tp.H2330H;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152280471 . C G 255.0 PASS ALTCOUNT=52;DP=107.0;DP4=29,26,32,21;AF1=0.48598132;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799,ENST00000271820;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=3.12;dbnsfpGERP++_RS=-3.95;dbnsfp29way_logOdds=8.7493;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.097378;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E2297D|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6891G>C;Mutation_AA_syntax=p.E2297D;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.6891G>Cp.E2297D;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152280559 . T C 255.0 PASS ALTCOUNT=27;DP=77.0;DP4=32,19,4,23;AF1=0.35064936;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799,ENST00000271820;dbnsfpSIFT_score=0.210000;dbnsfpGERP++_NR=3.41;dbnsfpGERP++_RS=-3.72;dbnsfp29way_logOdds=4.5351;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H2268R|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6803A>G;Mutation_AA_syntax=p.H2268R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.64;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.6803A>Gp.H2268R;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152280573 . C A 254.0 PASS ALTCOUNT=19;DP=75.0;DP4=33,24,2,17;AF1=0.25333333;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcT|A2263|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6789G>T;Mutation_AA_syntax=p.A2263A;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=14.29;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.6789G>Tp.A2263A;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0000000000000001E-254;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152280736 . T C 255.0 PASS ALTCOUNT=33;DP=97.0;DP4=45,20,22,11;AF1=0.34020618;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.710000;dbnsfpGERP++_NR=1.98;dbnsfpGERP++_RS=-0.241;dbnsfp29way_logOdds=5.4443;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.260032;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cGt|H2209R|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6626A>G;Mutation_AA_syntax=p.H2209R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29,5.77;Tumour_Site_(cosmic)=thyroid,upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.6626A>Gp.H2209R;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152280759 . A G 255.0 PASS ALTCOUNT=50;DP=124.0;DP4=46,29,32,18;AF1=0.4032258;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D2201|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6603T>C;Mutation_AA_syntax=p.D2201D;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=3.45,57.14;Tumour_Site_(cosmic)=skin,thyroid;HGVS_Syntax(COSMIC)=c.6603T>Cp.D2201D;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,254,255:10 chr1 152280782 . A G 117.0 PASS ALTCOUNT=155;DP=155.0;DP4=1,0,95,60;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.120000;dbnsfpGERP++_NR=2.99;dbnsfpGERP++_RS=-5.98;dbnsfp29way_logOdds=4.3415;dbnsfp1000Gp1_AF=0.4606227106227106;dbnsfp1000Gp1_AFR_AF=0.7439024390243902;dbnsfp1000Gp1_EUR_AF=0.17941952506596306;dbnsfp1000Gp1_AMR_AF=0.39226519337016574;dbnsfp1000Gp1_ASN_AF=0.6328671328671329;dbnsfpESP5400_AA_AF=0.682718;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y2194H|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6580T>C;Mutation_AA_syntax=p.Y2194H;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=73.33,5.77,29.73;Tumour_Site_(cosmic)=soft_tissue,upper_aerodigestive_tract,prostate;HGVS_Syntax(COSMIC)=c.6580T>Cp.Y2194H;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152280788 . T G 255.0 PASS ALTCOUNT=65;DP=171.0;DP4=65,41,35,31;AF1=0.38011697;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.550000;dbnsfpGERP++_NR=2.99;dbnsfpGERP++_RS=1.99;dbnsfp29way_logOdds=5.49;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.258159;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K2192Q|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6574A>C;Mutation_AA_syntax=p.K2192Q;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=3.45;Tumour_Site_(cosmic)=skin;HGVS_Syntax(COSMIC)=c.6574A>Cp.K2192Q;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,248,255:10 chr1 152280864 . A G 117.0 PASS ALTCOUNT=159;DP=159.0;DP4=1,0,77,82;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S2166|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152280900 . T G 255.0 PASS ALTCOUNT=63;DP=146.0;DP4=43,41,36,27;AF1=0.43150684;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.180000;dbnsfpGERP++_NR=2.59;dbnsfpGERP++_RS=-5.18;dbnsfp29way_logOdds=0.1659;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.354735;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caA/caC|Q2154H|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6462A>C;Mutation_AA_syntax=p.Q2154H;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=1.39,5.77;Tumour_Site_(cosmic)=pancreas,upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.6462A>Cp.Q2154H;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152281007 . A G 255.0 PASS ALTCOUNT=52;DP=129.0;DP4=41,37,37,15;AF1=0.4031008;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.560000;dbnsfpGERP++_NR=3.26;dbnsfpGERP++_RS=1.28;dbnsfp29way_logOdds=3.5172;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.339486;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y2119H|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6355T>C;Mutation_AA_syntax=p.Y2119H;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=3.45;Tumour_Site_(cosmic)=skin;HGVS_Syntax(COSMIC)=c.6355T>Cp.Y2119H;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152281008 . A G 255.0 PASS ALTCOUNT=50;DP=115.0;DP4=28,38,30,20;AF1=0.4347826;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caT/caC|H2118|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6354T>C;Mutation_AA_syntax=p.H2118H;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=3.45;Tumour_Site_(cosmic)=skin;HGVS_Syntax(COSMIC)=c.6354T>Cp.H2118H;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152281039 . G A 255.0 PASS ALTCOUNT=46;DP=96.0;DP4=33,18,28,18;AF1=0.47916666;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.300000;dbnsfpGERP++_NR=3.37;dbnsfpGERP++_RS=-6.74;dbnsfp29way_logOdds=6.0989;dbnsfp1000Gp1_AF=0.2907509157509158;dbnsfp1000Gp1_AFR_AF=0.3800813008130081;dbnsfp1000Gp1_EUR_AF=0.12928759894459102;dbnsfp1000Gp1_AMR_AF=0.3011049723756906;dbnsfp1000Gp1_ASN_AF=0.42132867132867136;dbnsfpESP5400_AA_AF=0.358213;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A2108V|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6323C>T;Mutation_AA_syntax=p.A2108V;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29,3.45;Tumour_Site_(cosmic)=thyroid,skin;HGVS_Syntax(COSMIC)=c.6323C>Tp.A2108V;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152281228 . C G 255.0 PASS ALTCOUNT=54;DP=144.0;DP4=40,50,25,30;AF1=0.375;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.540000;dbnsfpGERP++_NR=3.29;dbnsfpGERP++_RS=2.37;dbnsfp29way_logOdds=8.0203;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.329856;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S2045T|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152281290 . A G 255.0 PASS ALTCOUNT=48;DP=129.0;DP4=43,37,28,22;AF1=0.37209302;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caT/caC|H2024|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6072T>C;Mutation_AA_syntax=p.H2024H;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=3.45,14.29;Tumour_Site_(cosmic)=skin,thyroid;HGVS_Syntax(COSMIC)=c.6072T>Cp.H2024H;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,252,255:10 chr1 152281304 . A C 255.0 PASS ALTCOUNT=55;DP=116.0;DP4=31,30,34,22;AF1=0.47413793;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.210000;dbnsfpGERP++_NR=3.79;dbnsfpGERP++_RS=1.13;dbnsfp29way_logOdds=2.8858;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.32932;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tca/Gca|S2020A|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6058T>G;Mutation_AA_syntax=p.S2020A;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29,3.45;Tumour_Site_(cosmic)=thyroid,skin;HGVS_Syntax(COSMIC)=c.6058T>Gp.S2020A;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152281479 . G T 117.0 PASS ALTCOUNT=130;DP=130.0;DP4=1,0,76,54;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.590000;dbnsfpGERP++_NR=2.37;dbnsfpGERP++_RS=-4.75;dbnsfp29way_logOdds=2.7757;dbnsfp1000Gp1_AF=0.46016483516483514;dbnsfp1000Gp1_AFR_AF=0.7439024390243902;dbnsfp1000Gp1_EUR_AF=0.17810026385224276;dbnsfp1000Gp1_AMR_AF=0.39226519337016574;dbnsfp1000Gp1_ASN_AF=0.6328671328671329;dbnsfpESP5400_AA_AF=0.682718;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H1961Q|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.5883C>A;Mutation_AA_syntax=p.H1961Q;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29,1.39;Tumour_Site_(cosmic)=thyroid,pancreas;HGVS_Syntax(COSMIC)=c.5883C>Ap.H1961Q;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152281523 . A C 255.0 PASS ALTCOUNT=52;DP=128.0;DP4=37,40,19,33;AF1=0.40625;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.430000;dbnsfpGERP++_NR=2.54;dbnsfpGERP++_RS=0.616;dbnsfp29way_logOdds=5.0022;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.064473;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Ggg|W1947G|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.5839T>G;Mutation_AA_syntax=p.W1947G;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.13,3.45;Tumour_Site_(cosmic)=upper_aerodigestive_tract,skin;HGVS_Syntax(COSMIC)=c.5839T>Gp.W1947G;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152281534 . A T 255.0 PASS ALTCOUNT=45;DP=122.0;DP4=36,42,16,29;AF1=0.36885247;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.200000;dbnsfpGERP++_NR=2.69;dbnsfpGERP++_RS=0.209;dbnsfp29way_logOdds=0.4679;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.05725;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cAt|L1943H|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.5828T>A;Mutation_AA_syntax=p.L1943H;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.13;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.5828T>Ap.L1943H;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152281690 . C T 255.0 PASS ALTCOUNT=77;DP=82.0;DP4=3,3,45,32;AF1=0.9390244;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799,ENST00000271820;dbnsfpSIFT_score=0.760000;dbnsfpGERP++_NR=1.78;dbnsfpGERP++_RS=-3.57;dbnsfp29way_logOdds=7.8311;dbnsfp1000Gp1_AF=0.25137362637362637;dbnsfp1000Gp1_AFR_AF=0.018292682926829267;dbnsfp1000Gp1_EUR_AF=0.14511873350923482;dbnsfp1000Gp1_AMR_AF=0.3149171270718232;dbnsfp1000Gp1_ASN_AF=0.5524475524475524;dbnsfpESP5400_AA_AF=0.038791;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1891Q|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.5672G>A;Mutation_AA_syntax=p.R1891Q;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.56,1.39;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,pancreas;HGVS_Syntax(COSMIC)=c.5672G>Ap.R1891Q;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152281948 . G A 117.0 PASS ALTCOUNT=53;DP=55.0;DP4=1,0,23,32;AF1=0.96363634;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799,ENST00000271820;dbnsfpSIFT_score=0.350000;dbnsfpGERP++_NR=2.68;dbnsfpGERP++_RS=-3.56;dbnsfp29way_logOdds=0.7622;dbnsfp1000Gp1_AF=0.26282051282051283;dbnsfp1000Gp1_AFR_AF=0.018292682926829267;dbnsfp1000Gp1_EUR_AF=0.14775725593667546;dbnsfp1000Gp1_AMR_AF=0.3259668508287293;dbnsfp1000Gp1_ASN_AF=0.5856643356643356;dbnsfpESP5400_AA_AF=0.038523;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A1805V|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.5414C>T;Mutation_AA_syntax=p.A1805V;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.56;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.5414C>Tp.A1805V;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152282267 . G A 117.0 PASS ALTCOUNT=39;DP=39.0;DP4=1,0,18,21;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.060000;dbnsfpGERP++_NR=2.69;dbnsfpGERP++_RS=1.76;dbnsfp29way_logOdds=7.611;dbnsfp1000Gp1_AF=0.2623626373626374;dbnsfp1000Gp1_AFR_AF=0.018292682926829267;dbnsfp1000Gp1_EUR_AF=0.14643799472295516;dbnsfp1000Gp1_AMR_AF=0.3259668508287293;dbnsfp1000Gp1_ASN_AF=0.5856643356643356;dbnsfpESP5400_AA_AF=0.038523;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1699C|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.5095C>T;Mutation_AA_syntax=p.R1699C;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.56,14.29;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,thyroid;HGVS_Syntax(COSMIC)=c.5095C>Tp.R1699C;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152282311 . C T 117.0 PASS ALTCOUNT=54;DP=54.0;DP4=1,0,34,20;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.300000;dbnsfpGERP++_NR=2.9;dbnsfpGERP++_RS=-5.01;dbnsfp29way_logOdds=5.6496;dbnsfp1000Gp1_AF=0.27289377289377287;dbnsfp1000Gp1_AFR_AF=0.06504065040650407;dbnsfp1000Gp1_EUR_AF=0.14643799472295516;dbnsfp1000Gp1_AMR_AF=0.3259668508287293;dbnsfp1000Gp1_ASN_AF=0.5856643356643356;dbnsfpESP5400_AA_AF=0.070894;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1684H|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152282917 . G T 117.0 PASS ALTCOUNT=59;DP=59.0;DP4=1,0,21,38;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=2.75;dbnsfpGERP++_RS=0.67;dbnsfp29way_logOdds=4.9552;dbnsfp1000Gp1_AF=0.2619047619047619;dbnsfp1000Gp1_AFR_AF=0.018292682926829267;dbnsfp1000Gp1_EUR_AF=0.14775725593667546;dbnsfp1000Gp1_AMR_AF=0.3259668508287293;dbnsfp1000Gp1_ASN_AF=0.5821678321678322;dbnsfpESP5400_AA_AF=0.038523;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tAc|S1482Y|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.4445C>A;Mutation_AA_syntax=p.S1482Y;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.56;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.4445C>Ap.S1482Y;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152283236 . T C 117.0 PASS ALTCOUNT=72;DP=72.0;DP4=1,0,30,42;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.29;dbnsfpGERP++_RS=-4.46;dbnsfp29way_logOdds=8.0818;dbnsfp1000Gp1_AF=0.2692307692307692;dbnsfp1000Gp1_AFR_AF=0.10365853658536585;dbnsfp1000Gp1_EUR_AF=0.14643799472295516;dbnsfp1000Gp1_AMR_AF=0.3011049723756906;dbnsfp1000Gp1_ASN_AF=0.5541958041958042;dbnsfpESP5400_AA_AF=0.14152;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R1376G|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152283283 . C T 117.0 PASS ALTCOUNT=32;DP=32.0;DP4=1,0,16,16;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.550000;dbnsfpGERP++_NR=3.78;dbnsfpGERP++_RS=-7.56;dbnsfp29way_logOdds=1.3944;dbnsfp1000Gp1_AF=0.23122710622710624;dbnsfp1000Gp1_AFR_AF=0.014227642276422764;dbnsfp1000Gp1_EUR_AF=0.12401055408970976;dbnsfp1000Gp1_AMR_AF=0.287292817679558;dbnsfp1000Gp1_ASN_AF=0.5244755244755245;dbnsfpESP5400_AA_AF=0.038791;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1360H|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.4079G>A;Mutation_AA_syntax=p.R1360H;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.4079G>Ap.R1360H;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152283530 . T C 255.0 PASS ALTCOUNT=25;DP=46.0;DP4=13,9,13,12;AF1=0.54347825;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=2.81;dbnsfpGERP++_RS=-0.488;dbnsfp29way_logOdds=3.5133;dbnsfp1000Gp1_AF=0.0018315018315018315;dbnsfp1000Gp1_AFR_AF=0.0020325203252032522;dbnsfp1000Gp1_EUR_AF=0.0013192612137203166;dbnsfp1000Gp1_AMR_AF=0.0055248618784530384;dbnsfp1000Gp1_ASN_AF=0.0;dbnsfpESP5400_AA_AF=0.003478;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R1278G|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152283533 . C G 255.0 PASS ALTCOUNT=30;DP=58.0;DP4=17,12,18,12;AF1=0.51724136;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.700000;dbnsfpGERP++_NR=2.81;dbnsfpGERP++_RS=0.852;dbnsfp29way_logOdds=4.1657;dbnsfp1000Gp1_AF=0.0018315018315018315;dbnsfp1000Gp1_AFR_AF=0.0020325203252032522;dbnsfp1000Gp1_EUR_AF=0.0013192612137203166;dbnsfp1000Gp1_AMR_AF=0.0055248618784530384;dbnsfp1000Gp1_ASN_AF=0.0;dbnsfpESP5400_AA_AF=0.001338;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E1277Q|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152283862 . G C 255.0 PASS ALTCOUNT=65;DP=70.0;DP4=5,1,26,39;AF1=0.9285714;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.410000;dbnsfpGERP++_NR=2.76;dbnsfpGERP++_RS=-5.53;dbnsfp29way_logOdds=10.7783;dbnsfp1000Gp1_AF=0.3727106227106227;dbnsfp1000Gp1_AFR_AF=0.532520325203252;dbnsfp1000Gp1_EUR_AF=0.1503957783641161;dbnsfp1000Gp1_AMR_AF=0.3397790055248619;dbnsfp1000Gp1_ASN_AF=0.5506993006993007;dbnsfpESP5400_AA_AF=0.619315;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gGa|A1167G|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.3500C>G;Mutation_AA_syntax=p.A1167G;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29,0.92;Tumour_Site_(cosmic)=thyroid,central_nervous_system;HGVS_Syntax(COSMIC)=c.3500C>Gp.A1167G;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152283975 . A G 117.0 PASS ALTCOUNT=35;DP=35.0;DP4=1,0,25,10;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S1129|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.3387T>C;Mutation_AA_syntax=p.S1129S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=5.56;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.3387T>Cp.S1129S;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152284549 . G C 209.0 PASS ALTCOUNT=16;DP=101.0;DP4=53,33,3,13;AF1=0.15841584;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799,ENST00000392689;dbnsfpSIFT_score=0.270000;dbnsfpGERP++_NR=3.85;dbnsfpGERP++_RS=0.458;dbnsfp29way_logOdds=2.2232;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF=0.0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T938R|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2813C>G;Mutation_AA_syntax=p.T938R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=33.33;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.2813C>Gp.T938R;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-209;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,241,255:10 chr1 152284854 . A G 117.0 PASS ALTCOUNT=71;DP=71.0;DP4=1,0,34,37;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D836|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152285099 . C T 255.0 PASS ALTCOUNT=72;DP=77.0;DP4=6,0,36,36;AF1=0.9350649;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.150000;dbnsfpGERP++_NR=4.25;dbnsfpGERP++_RS=1.02;dbnsfp29way_logOdds=3.5386;dbnsfp1000Gp1_AF=0.2838827838827839;dbnsfp1000Gp1_AFR_AF=0.08333333333333333;dbnsfp1000Gp1_EUR_AF=0.17150395778364116;dbnsfp1000Gp1_AMR_AF=0.3287292817679558;dbnsfp1000Gp1_ASN_AF=0.5769230769230769;dbnsfpESP5400_AA_AF=0.086142;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E755K|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2263G>A;Mutation_AA_syntax=p.E755K;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.56;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.2263G>Ap.E755K;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 152285930 . G A 117.0 PASS ALTCOUNT=50;DP=50.0;DP4=1,0,25,25;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799,ENST00000392689;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=3.05;dbnsfpGERP++_RS=-3.12;dbnsfp29way_logOdds=3.0665;dbnsfp1000Gp1_AF=0.3131868131868132;dbnsfp1000Gp1_AFR_AF=0.14634146341463414;dbnsfp1000Gp1_EUR_AF=0.1741424802110818;dbnsfp1000Gp1_AMR_AF=0.3453038674033149;dbnsfp1000Gp1_ASN_AF=0.6206293706293706;dbnsfpESP5400_AA_AF=0.143392;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P478S|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),UPSTREAM(MODIFIER||||FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1432C>T;Mutation_AA_syntax=p.P478S;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=60.0;Tumour_Site_(cosmic)=soft_tissue;HGVS_Syntax(COSMIC)=c.1432C>Tp.P478S;Gene_Description=152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152286002 . T C 117.0 PASS ALTCOUNT=39;DP=39.0;DP4=1,0,16,23;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.960000;dbnsfpGERP++_NR=3.43;dbnsfpGERP++_RS=-6.86;dbnsfp29way_logOdds=0.0862;dbnsfp1000Gp1_AF=0.39789377289377287;dbnsfp1000Gp1_AFR_AF=0.4878048780487805;dbnsfp1000Gp1_EUR_AF=0.17546174142480211;dbnsfp1000Gp1_AMR_AF=0.3756906077348066;dbnsfp1000Gp1_ASN_AF=0.6293706293706294;dbnsfpESP5400_AA_AF=0.46549;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T454A|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V23A|FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|NR_103778.ex.1);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1360A>G;Mutation_AA_syntax=p.T454A;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29,3.45;Tumour_Site_(cosmic)=thyroid,skin;HGVS_Syntax(COSMIC)=c.1360A>Gp.T454A;Gene_Description=152339168,152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152286032 . C T 117.0 PASS ALTCOUNT=39;DP=39.0;DP4=1,0,18,21;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.570000;dbnsfpGERP++_NR=2.5;dbnsfpGERP++_RS=-0.615;dbnsfp29way_logOdds=3.0061;dbnsfp1000Gp1_AF=0.26144688644688646;dbnsfp1000Gp1_AFR_AF=0.018292682926829267;dbnsfp1000Gp1_EUR_AF=0.14643799472295516;dbnsfp1000Gp1_AMR_AF=0.3259668508287293;dbnsfp1000Gp1_ASN_AF=0.5821678321678322;dbnsfpESP5400_AA_AF=0.038523;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G444R|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P33L|FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|NR_103778.ex.1);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1330G>A;Mutation_AA_syntax=p.G444R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=5.56,3.45;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,skin;HGVS_Syntax(COSMIC)=c.1330G>Ap.G444R;Gene_Description=152339168,152297679;OMIM_ID=OMIM:135940;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 152286367 . C A 117.0 PASS ALTCOUNT=53;DP=53.0;DP4=1,0,15,38;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P20930;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368799;dbnsfpSIFT_score=0.240000;dbnsfpGERP++_NR=3.14;dbnsfpGERP++_RS=1.2;dbnsfp29way_logOdds=5.3802;dbnsfp1000Gp1_AF=0.30952380952380953;dbnsfp1000Gp1_AFR_AF=0.13008130081300814;dbnsfp1000Gp1_EUR_AF=0.1741424802110818;dbnsfp1000Gp1_AMR_AF=0.3453038674033149;dbnsfp1000Gp1_ASN_AF=0.6206293706293706;dbnsfpESP5400_AA_AF=0.135902;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Aca|P145T|FLG-AS1|Non-coding_transcript|NON_CODING|NR_103778|NR_103778.ex.1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gTc|G332V|FLG|mRNA|CODING|NM_002016|NM_002016.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=152339168,152297679;OMIM_ID=;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 154141908 . A G 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,4,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||TPM3|mRNA|CODING|NM_001043351|),INTRON(MODIFIER||||TPM3|mRNA|CODING|NM_001043352|),INTRON(MODIFIER||||TPM3|mRNA|CODING|NM_001043353|),INTRON(MODIFIER||||TPM3|mRNA|CODING|NM_001278188|),INTRON(MODIFIER||||TPM3|mRNA|CODING|NM_001278189|),INTRON(MODIFIER||||TPM3|mRNA|CODING|NM_001278190|),INTRON(MODIFIER||||TPM3|mRNA|CODING|NM_001278191|),INTRON(MODIFIER||||TPM3|mRNA|CODING|NM_152263|),INTRON(MODIFIER||||TPM3|mRNA|CODING|NM_153649|),INTRON(MODIFIER||||TPM3|mRNA|CODING|NR_103461|);SEL_PRIMARY_EFF=0;Gene_Description=154164611;OMIM_ID=OMIM:191030;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 154557685 . C T 117.0 PASS ALTCOUNT=21;DP=21.0;DP4=1,0,17,4;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ADAR|mRNA|CODING|NM_001025107|),INTRON(MODIFIER||||ADAR|mRNA|CODING|NM_001111|),INTRON(MODIFIER||||ADAR|mRNA|CODING|NM_001193495|),INTRON(MODIFIER||||ADAR|mRNA|CODING|NM_015840|),INTRON(MODIFIER||||ADAR|mRNA|CODING|NM_015841|);SEL_PRIMARY_EFF=0;Gene_Description=154600456;OMIM_ID=OMIM:146920;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 154573967 rs2229857 T C 117.0 PASS ALTCOUNT=33;DP=33.0;DP4=1,0,16,17;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P55265-3,P55265-2,P55265;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000292205,ENST00000368474,ENST00000368471,ENST00000529168;dbnsfpSIFT_score=0.420000;dbnsfpGERP++_NR=4.54;dbnsfpGERP++_RS=-0.812;dbnsfp29way_logOdds=4.8985;dbnsfp1000Gp1_AF=0.61996336996337;dbnsfp1000Gp1_AFR_AF=0.3678861788617886;dbnsfp1000Gp1_EUR_AF=0.6688654353562006;dbnsfp1000Gp1_AMR_AF=0.7541436464088398;dbnsfp1000Gp1_ASN_AF=0.6870629370629371;dbnsfpESP5400_AA_AF=0.432852;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K384R|ADAR|mRNA|CODING|NM_001111|NM_001111.ex.2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K384R|ADAR|mRNA|CODING|NM_015840|NM_015840.ex.2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K384R|ADAR|mRNA|CODING|NM_015841|NM_015841.ex.2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K89R|ADAR|mRNA|CODING|NM_001025107|NM_001025107.ex.2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K89R|ADAR|mRNA|CODING|NM_001193495|NM_001193495.ex.2);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3774(T);HGVS=(NC_000001.10:g.154573967T>C,NM_001111.4:c.1151A>G,NP_001102.2:p.Lys384Arg),(,,),(,,),(,,),(,,);Gene_Description=154600456;OMIM_ID=OMIM:146920;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 154574820 . T C 117.0 PASS ALTCOUNT=24;DP=24.0;DP4=1,0,12,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P55265-3,P55265-2,P55265;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000292205,ENST00000368474,ENST00000529168;dbnsfpSIFT_score=0.750000;dbnsfpGERP++_NR=4.56;dbnsfpGERP++_RS=-2.82;dbnsfp29way_logOdds=2.295;dbnsfp1000Gp1_AF=0.9977106227106227;dbnsfp1000Gp1_AFR_AF=0.9898373983739838;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=1.0;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.987426;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R100G|ADAR|mRNA|CODING|NM_001111|NM_001111.ex.2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R100G|ADAR|mRNA|CODING|NM_015840|NM_015840.ex.2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R100G|ADAR|mRNA|CODING|NM_015841|NM_015841.ex.2),UTR_5_PRIME(MODIFIER||||ADAR|mRNA|CODING|NM_001025107|NM_001025107.ex.2),UTR_5_PRIME(MODIFIER||||ADAR|mRNA|CODING|NM_001193495|NM_001193495.ex.2);SEL_PRIMARY_EFF=0;Gene_Description=154600456;OMIM_ID=OMIM:146920;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 154575040 . C T 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,8,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=START_GAINED(LOW||||ADAR|mRNA|CODING|NM_001025107|NM_001025107.ex.2),START_GAINED(LOW||||ADAR|mRNA|CODING|NM_001193495|NM_001193495.ex.2),SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R26|ADAR|mRNA|CODING|NM_001111|NM_001111.ex.2),SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R26|ADAR|mRNA|CODING|NM_015840|NM_015840.ex.2),SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R26|ADAR|mRNA|CODING|NM_015841|NM_015841.ex.2);SEL_PRIMARY_EFF=0;Gene_Description=154600456;OMIM_ID=OMIM:146920;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 155205669 . G T 255.0 PASS ALTCOUNT=19;DP=20.0;DP4=2,0,5,14;AF1=0.95;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||GBA|mRNA|CODING|NM_000157|),INTRON(MODIFIER||||GBA|mRNA|CODING|NM_001005741|),INTRON(MODIFIER||||GBA|mRNA|CODING|NM_001005742|),INTRON(MODIFIER||||GBA|mRNA|CODING|NM_001171811|),INTRON(MODIFIER||||GBA|mRNA|CODING|NM_001171812|);SEL_PRIMARY_EFF=0;Gene_Description=155214653;OMIM_ID=OMIM:606463;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 155408635 . T C 117.0 PASS ALTCOUNT=28;DP=28.0;DP4=1,0,16,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q9NR48,Q9NR48-2;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368346,ENST00000392403;dbnsfpSIFT_score=0.090000;dbnsfpGERP++_NR=5.23;dbnsfpGERP++_RS=4.31;dbnsfp29way_logOdds=5.8564;dbnsfp1000Gp1_AF=0.9542124542124543;dbnsfp1000Gp1_AFR_AF=0.8150406504065041;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=0.9751381215469613;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.859016;EFF=DOWNSTREAM(MODIFIER||||POU5F1P4|Non-coding_transcript|NON_CODING|NR_034180|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T1771A|ASH1L|mRNA|CODING|NM_018489|NM_018489.ex.5);SEL_PRIMARY_EFF=1;Gene_Description=155532324;OMIM_ID=OMIM:607999;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 155618415 . CT C 255.0 Pass ALTCOUNT=020;DP=22;DP4=1,0,10,10;STDP4=22,0,20,0;AF1=0.90909094;;MQ=30;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTERGENIC(MODIFIER||||||||);SEL_PRIMARY_EFF;pValue=1.0E-255;Zygosity=HOM;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,4,4:10 chr1 155735012 . T C 255.0 PASS ALTCOUNT=38;DP=40.0;DP4=2,1,21,17;AF1=0.95;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q3T8J9-2,Q3T8J9,Q3T8J9-3;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000437809,ENST00000368331,ENST00000271883,ENST00000361040;dbnsfpSIFT_score=0.320000;dbnsfpGERP++_NR=5.04;dbnsfpGERP++_RS=-4.4;dbnsfp29way_logOdds=16.1992;dbnsfp1000Gp1_AF=0.4024725274725275;dbnsfp1000Gp1_AFR_AF=0.1910569105691057;dbnsfp1000Gp1_EUR_AF=0.3113456464379947;dbnsfp1000Gp1_AMR_AF=0.3674033149171271;dbnsfp1000Gp1_ASN_AF=0.7272727272727273;dbnsfpESP5400_AA_AF=0.208133;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M1418V|GON4L|mRNA|CODING|NM_001282856|NM_001282856.ex.21),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M1418V|GON4L|mRNA|CODING|NM_001282858|NM_001282858.ex.21),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M1418V|GON4L|mRNA|CODING|NM_001282860|NM_001282860.ex.21),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M1418V|GON4L|mRNA|CODING|NM_001282861|NM_001282861.ex.21),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M1418V|GON4L|mRNA|CODING|NM_032292|NM_032292.ex.21);SEL_PRIMARY_EFF=0;Gene_Description=155829191;OMIM_ID=OMIM:610393;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 155746340 . CT C 255.0 Pass ALTCOUNT=016;DP=18;DP4=0,1,3,13;STDP4=18,0,16,0;AF1=0.8888889;;MQ=32;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282856|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282858|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282860|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282861|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_032292|);SEL_PRIMARY_EFF=0;Gene_Description=155829191;OMIM_ID=OMIM:610393;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,5,5:10 chr1 155755097 . G A 255.0 PASS ALTCOUNT=10;DP=11.0;DP4=1,1,7,3;AF1=0.90909094;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282856|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282858|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282860|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282861|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_032292|),UPSTREAM(MODIFIER||||SCARNA26B|Non-coding_transcript|NON_CODING|NR_132767|);SEL_PRIMARY_EFF=0;Gene_Description=155829191;OMIM_ID=OMIM:610393;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 155823002 . T C 117.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,12,0;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282856|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282858|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282860|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_001282861|),INTRON(MODIFIER||||GON4L|mRNA|CODING|NM_032292|);SEL_PRIMARY_EFF=0;Gene_Description=155829191;OMIM_ID=OMIM:610393;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 156785617 . G A 255.0 PASS ALTCOUNT=14;DP=28.0;DP4=8,7,7,7;AF1=0.5;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||SH2D2A|mRNA|CODING|NM_001161441|),INTRON(MODIFIER||||SH2D2A|mRNA|CODING|NM_001161442|),INTRON(MODIFIER||||SH2D2A|mRNA|CODING|NM_001161443|),INTRON(MODIFIER||||SH2D2A|mRNA|CODING|NM_001161444|),INTRON(MODIFIER||||SH2D2A|mRNA|CODING|NM_003975|),UTR_5_PRIME(MODIFIER||||NTRK1|mRNA|CODING|NM_001007792|NM_001007792.ex.1);SEL_PRIMARY_EFF=0;Gene_Description=156786640,156851642;OMIM_ID=OMIM:604514;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 158582646 . T C 255.0 PASS ALTCOUNT=11;DP=20.0;DP4=7,3,8,3;AF1=0.55;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|A2365|SPTA1|mRNA|CODING|NM_003126|NM_003126.ex.51);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.7095A>G;Mutation_AA_syntax=p.A2365A;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=0.31;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.7095A>Gp.A2365A;Gene_Description=158656506;OMIM_ID=OMIM:182860;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 158587390 . C T 255.0 PASS ALTCOUNT=10;DP=26.0;DP4=8,9,2,8;AF1=0.3846154;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||SPTA1|mRNA|CODING|NM_003126|);SEL_PRIMARY_EFF=0;Gene_Description=158656506;OMIM_ID=OMIM:182860;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 158592935 . G A 255.0 PASS ALTCOUNT=10;DP=28.0;DP4=9,10,5,5;AF1=0.35714287;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P1986|SPTA1|mRNA|CODING|NM_003126|NM_003126.ex.43);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.5958C>T,c.5958C>A;Mutation_AA_syntax=p.P1986P;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=0.63,12.5,0.72;Tumour_Site_(cosmic)=large_intestine,haematopoietic_and_lymphoid_tissue,upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.5958C>Tp.P1986P,c.5958C>Ap.P1986P;Gene_Description=158656506;OMIM_ID=OMIM:182860;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 158612236 . A G 255.0 PASS ALTCOUNT=10;DP=21.0;DP4=10,2,7,3;AF1=0.47619048;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P02549;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368148,ENST00000368147;dbnsfpSIFT_score=0.690000;dbnsfpGERP++_NR=5.26;dbnsfpGERP++_RS=1.01;dbnsfp29way_logOdds=10.0752;dbnsfp1000Gp1_AF=0.6236263736263736;dbnsfp1000Gp1_AFR_AF=0.7357723577235772;dbnsfp1000Gp1_EUR_AF=0.5989445910290238;dbnsfp1000Gp1_AMR_AF=0.5497237569060773;dbnsfp1000Gp1_ASN_AF=0.6066433566433567;dbnsfpESP5400_AA_AF=0.678963;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C1568R|SPTA1|mRNA|CODING|NM_003126|NM_003126.ex.33);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.4702T>C;Mutation_AA_syntax=p.C1568R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.68,0.31;Tumour_Site_(cosmic)=pancreas,large_intestine;HGVS_Syntax(COSMIC)=c.4702T>Cp.C1568R;Gene_Description=158656506;OMIM_ID=OMIM:182860;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 158619728 . A C 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,2,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P02549;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000368148,ENST00000368147;dbnsfpSIFT_score=0.650000;dbnsfpGERP++_NR=5.08;dbnsfpGERP++_RS=-1.91;dbnsfp29way_logOdds=6.9554;dbnsfp1000Gp1_AF=0.9967948717948718;dbnsfp1000Gp1_AFR_AF=0.9857723577235772;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=1.0;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.982107;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S1163A|SPTA1|mRNA|CODING|NM_003126|NM_003126.ex.25);SEL_PRIMARY_EFF=0;Gene_Description=158656506;OMIM_ID=OMIM:182860;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 158639601 . A G 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,1,16;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||SPTA1|mRNA|CODING|NM_003126|);SEL_PRIMARY_EFF=0;Gene_Description=158656506;OMIM_ID=OMIM:182860;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 158647495 . A T 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,8,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcT/gcA|A314|SPTA1|mRNA|CODING|NM_003126|NM_003126.ex.7);SEL_PRIMARY_EFF=0;Gene_Description=158656506;OMIM_ID=OMIM:182860;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 158647631 . T A 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,4,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||SPTA1|mRNA|CODING|NM_003126|);SEL_PRIMARY_EFF=0;Gene_Description=158656506;OMIM_ID=OMIM:182860;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 158655036 . G A 117.0 PASS ALTCOUNT=30;DP=30.0;DP4=1,0,16,14;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V42|SPTA1|mRNA|CODING|NM_003126|NM_003126.ex.2);SEL_PRIMARY_EFF=0;Gene_Description=158656506;OMIM_ID=OMIM:182860;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 160090674 . T C 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,7,3;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ATP1A2|mRNA|CODING|NM_000702|);SEL_PRIMARY_EFF=0;Gene_Description=160113374;OMIM_ID=OMIM:182340;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 160090681 . CCCTT C 255.0 Pass ALTCOUNT=011;DP=12;DP4=0,0,8,3;STDP4=12,0,11,0;AF1=0.9166667;;MQ=16;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ATP1A2|mRNA|CODING|NM_000702|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;Gene_Description=160113374;OMIM_ID=OMIM:182340;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,108,255:10 chr1 160098927 . A AG 255.0 Pass ALTCOUNT=012;DP=12;DP4=3,8,3,10;STDP4=12,0,12,0;AF1=1.0;;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ATP1A2|mRNA|CODING|NM_000702|);SEL_PRIMARY_EFF=0;Gene_Description=160113374;OMIM_ID=OMIM:182340;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 161179877 . G A 255.0 PASS ALTCOUNT=13;DP=25.0;DP4=9,4,7,6;AF1=0.52;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||NDUFS2|mRNA|CODING|NM_001166159|),INTRON(MODIFIER||||NDUFS2|mRNA|CODING|NM_004550|);SEL_PRIMARY_EFF=0;Gene_Description=161184184;OMIM_ID=OMIM:602985;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 161562058 . G T 255.0 PASS ALTCOUNT=12;DP=13.0;DP4=2,0,3,9;AF1=0.9230769;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||FCGR2C|mRNA|CODING|NM_201563|),INTRON(MODIFIER||||FCGR2C|mRNA|CODING|NR_047648|);SEL_PRIMARY_EFF=0;Gene_Description=161571010;OMIM_ID=OMIM:612169;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 161565479 . G A 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,6,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||FCGR2C|mRNA|CODING|NM_201563|),INTRON(MODIFIER||||FCGR2C|mRNA|CODING|NR_047648|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.135G>A;Mutation_AA_syntax=p.L45L;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0;Tumour_Site_(cosmic)=breast;HGVS_Syntax(COSMIC)=c.135G>Ap.L45L;Gene_Description=161571010;OMIM_ID=OMIM:612169;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 161643889 . G T 117.0 PASS ALTCOUNT=20;DP=20.0;DP4=1,0,8,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||FCGR2B|mRNA|CODING|NM_001002273|),INTRON(MODIFIER||||FCGR2B|mRNA|CODING|NM_001002274|),INTRON(MODIFIER||||FCGR2B|mRNA|CODING|NM_001002275|),INTRON(MODIFIER||||FCGR2B|mRNA|CODING|NM_001190828|),INTRON(MODIFIER||||FCGR2B|mRNA|CODING|NM_004001|);SEL_PRIMARY_EFF=0;Gene_Description=161648444;OMIM_ID=OMIM:604590;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 162740327 . T C 114.0 PASS ALTCOUNT=25;DP=25.0;DP4=1,0,13,12;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000458105;dbnsfpSIFT_score;dbnsfpGERP++_NR=5.03;dbnsfpGERP++_RS=-10.1;dbnsfp29way_logOdds=0.5717;dbnsfp1000Gp1_AF=0.9537545787545788;dbnsfp1000Gp1_AFR_AF=0.8109756097560976;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=0.9779005524861878;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.846442;EFF=INTRON(MODIFIER||||DDR2|mRNA|CODING|NM_001014796|),INTRON(MODIFIER||||DDR2|mRNA|CODING|NM_006182|);SEL_PRIMARY_EFF=0;Gene_Description=162750247;OMIM_ID=OMIM:191311;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 162743418 . G T 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,3,10;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DDR2|mRNA|CODING|NM_001014796|),INTRON(MODIFIER||||DDR2|mRNA|CODING|NM_006182|);SEL_PRIMARY_EFF=0;Gene_Description=162750247;OMIM_ID=OMIM:191311;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 162748588 . C A 111.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,1,9;AF1=1.0;MQ=37;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DDR2|mRNA|CODING|NM_001014796|),INTRON(MODIFIER||||DDR2|mRNA|CODING|NM_006182|);SEL_PRIMARY_EFF=0;Gene_Description=162750247;OMIM_ID=OMIM:191311;pValue=1.0E-111;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 165737704 . C G 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,9,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||TMCO1|mRNA|CODING|NM_001256164|),INTRON(MODIFIER||||TMCO1|mRNA|CODING|NM_001256165|),INTRON(MODIFIER||||TMCO1|mRNA|CODING|NM_019026|),INTRON(MODIFIER||||TMCO1|mRNA|CODING|NR_045818|),UPSTREAM(MODIFIER||||LOC100147773|Non-coding_transcript|NON_CODING|NR_125374|);SEL_PRIMARY_EFF=0;Gene_Description=165738159;OMIM_ID=OMIM:614123;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 166246419 . A G 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,4,6;AF1=1.0;MQ=39;IsKnownVariant=0;EFF=INTERGENIC(MODIFIER||||||||);SEL_PRIMARY_EFF;pValue=1.0E-117;Zygosity=HOM;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 169498834 . T C 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,7,3;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||F5|mRNA|CODING|NM_000130|);SEL_PRIMARY_EFF=0;Gene_Description=169555769;OMIM_ID=OMIM:612309;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 169510475 . G T 255.0 PASS ALTCOUNT=72;DP=75.0;DP4=2,2,42,30;AF1=0.96;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P12259;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000367797,ENST00000367796;dbnsfpSIFT_score=0.410000;dbnsfpGERP++_NR=4.19;dbnsfpGERP++_RS=-1.42;dbnsfp29way_logOdds=0.7167;dbnsfp1000Gp1_AF=0.14743589743589744;dbnsfp1000Gp1_AFR_AF=0.12804878048780488;dbnsfp1000Gp1_EUR_AF=0.1820580474934037;dbnsfp1000Gp1_AMR_AF=0.1464088397790055;dbnsfp1000Gp1_ASN_AF=0.11888111888111888;dbnsfpESP5400_AA_AF=0.175762;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Att|L1285I|F5|mRNA|CODING|NM_000130|NM_000130.ex.13);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.3853C>A;Mutation_AA_syntax=p.L1285I;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.97;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.3853C>Ap.L1285I;Gene_Description=169555769;OMIM_ID=OMIM:612309;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 169519049 rs6025 T C 114.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,9,1;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000367797,ENST00000367796;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.71;dbnsfpGERP++_RS=5.71;dbnsfp29way_logOdds=9.5997;dbnsfp1000Gp1_AF=0.9940476190476191;dbnsfp1000Gp1_AFR_AF=1.0;dbnsfp1000Gp1_EUR_AF=0.9868073878627969;dbnsfp1000Gp1_AMR_AF=0.9917127071823204;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.99465;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q534R|F5|mRNA|CODING|NM_000130|NM_000130.ex.10);SEL_PRIMARY_EFF=0;PUBMED_CITATIONS=1;CLINICAL_SIGNIFICANCE=risk//\@factor,Pathogenic;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0060(T);GWASCAT=Venous_thromboembolism;Gene_Description=169555769;OMIM_ID=OMIM:612309;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 169521849 . T C 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,10,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K414|F5|mRNA|CODING|NM_000130|NM_000130.ex.8);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1242A>G;Mutation_AA_syntax=p.K414K;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=0.97;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.1242A>Gp.K414K;Gene_Description=169555769;OMIM_ID=OMIM:612309;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 169529826 . C A 117.0 PASS ALTCOUNT=25;DP=25.0;DP4=1,0,15,10;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcG/tcT|S184|F5|mRNA|CODING|NM_000130|NM_000130.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.552G>T;Mutation_AA_syntax=p.S184S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=25.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.552G>Tp.S184S;Gene_Description=169555769;OMIM_ID=OMIM:612309;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 169529973 . C T 117.0 PASS ALTCOUNT=31;DP=31.0;DP4=1,0,11,20;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A135|F5|mRNA|CODING|NM_000130|NM_000130.ex.4);SEL_PRIMARY_EFF=0;Gene_Description=169555769;OMIM_ID=OMIM:612309;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 170501385 . A C 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,5,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||LOC101928650|Non-coding_transcript|NON_CODING|NR_125958|),SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|G32|GORAB|mRNA|CODING|NM_001146039|NM_001146039.ex.1),SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|G32|GORAB|mRNA|CODING|NM_152281|NM_152281.ex.1),SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|G41|GORAB|mRNA|CODING|NR_027397|NR_027397.ex.1);SEL_PRIMARY_EFF=1;Mutation_cds_syntax=c.96A>C;Mutation_AA_syntax=p.G32G;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.96A>Cp.G32G;Gene_Description=170522974,170501750;OMIM_ID=OMIM:607983;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 170521376 . G A 117.0 PASS ALTCOUNT=39;DP=39.0;DP4=1,0,22,17;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q5T7V8;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000367763;dbnsfpSIFT_score=0.090000;dbnsfpGERP++_NR=5.63;dbnsfpGERP++_RS=2.65;dbnsfp29way_logOdds=9.7822;dbnsfp1000Gp1_AF=0.6108058608058609;dbnsfp1000Gp1_AFR_AF=0.532520325203252;dbnsfp1000Gp1_EUR_AF=0.48548812664907653;dbnsfp1000Gp1_AMR_AF=0.5138121546961326;dbnsfp1000Gp1_ASN_AF=0.9055944055944056;dbnsfpESP5400_AA_AF=0.525682;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E320K|GORAB|mRNA|CODING|NM_152281|NM_152281.ex.5),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R330Q|GORAB|mRNA|CODING|NR_027397|NR_027397.ex.5);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.958G>A;Mutation_AA_syntax=p.E320K;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=3.7,2.56;Tumour_Site_(cosmic)=large_intestine,pancreas;HGVS_Syntax(COSMIC)=c.958G>Ap.E320K;Gene_Description=170522974;OMIM_ID=OMIM:607983;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 171061989 . C T 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,1,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||FMO3|mRNA|CODING|NM_001002294|),INTRON(MODIFIER||||FMO3|mRNA|CODING|NM_006894|);SEL_PRIMARY_EFF=0;Gene_Description=171086959;OMIM_ID=OMIM:136132;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 171061990 . A G 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,3,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||FMO3|mRNA|CODING|NM_001002294|),INTRON(MODIFIER||||FMO3|mRNA|CODING|NM_006894|);SEL_PRIMARY_EFF=0;Gene_Description=171086959;OMIM_ID=OMIM:136132;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 171076935 . C T 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,4,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S147|FMO3|mRNA|CODING|NM_001002294|NM_001002294.ex.4),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S147|FMO3|mRNA|CODING|NM_006894|NM_006894.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.441C>T;Mutation_AA_syntax=p.S147S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=3.03,9.09;Tumour_Site_(cosmic)=large_intestine,stomach;HGVS_Syntax(COSMIC)=c.441C>Tp.S147S;Gene_Description=171086959;OMIM_ID=OMIM:136132;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 171083174 . C T 117.0 PASS ALTCOUNT=23;DP=23.0;DP4=1,0,19,4;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N285|FMO3|mRNA|CODING|NM_001002294|NM_001002294.ex.7),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N285|FMO3|mRNA|CODING|NM_006894|NM_006894.ex.7);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.855C>T;Mutation_AA_syntax=p.N285N;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=9.09;Tumour_Site_(cosmic)=stomach;HGVS_Syntax(COSMIC)=c.855C>Tp.N285N;Gene_Description=171086959;OMIM_ID=OMIM:136132;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 171607702 . C T 255.0 PASS ALTCOUNT=11;DP=21.0;DP4=8,3,10,1;AF1=0.52380955;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||MYOC|mRNA|CODING|NM_000261|);SEL_PRIMARY_EFF=0;Gene_Description=171621773;OMIM_ID=OMIM:601652;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 172634734 . T C 117.0 PASS ALTCOUNT=27;DP=27.0;DP4=1,0,25,2;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||FASLG|mRNA|CODING|NM_000639|),INTRON(MODIFIER||||FASLG|mRNA|CODING|NM_001302746|);SEL_PRIMARY_EFF=0;Gene_Description=172636012;OMIM_ID=OMIM:134638;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 173878862 . T C 255.0 PASS ALTCOUNT=16;DP=28.0;DP4=9,4,5,11;AF1=0.5714286;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtA/gtG|V327|SERPINC1|mRNA|CODING|NM_000488|NM_000488.ex.5);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.981A>G;Mutation_AA_syntax=p.V327V;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0,3.03;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,large_intestine;HGVS_Syntax(COSMIC)=c.981A>Gp.V327V;Gene_Description=173886516;OMIM_ID=OMIM:107300;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 180257692 . A C 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,1,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ACBD6|mRNA|CODING|NM_032360|);SEL_PRIMARY_EFF=0;Gene_Description=180472022;OMIM_ID=OMIM:616352;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 180885430 . T C 114.0 PASS ALTCOUNT=27;DP=27.0;DP4=1,0,14,13;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=Q5VZ46;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000367588;dbnsfpSIFT_score=0.120000;dbnsfpGERP++_NR=4.85;dbnsfpGERP++_RS=-8.68;dbnsfp29way_logOdds=1.8565;dbnsfp1000Gp1_AF=0.9967948717948718;dbnsfp1000Gp1_AFR_AF=0.9857723577235772;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=1.0;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.988111;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L64P|KIAA1614|mRNA|CODING|NM_020950|NM_020950.ex.2);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.191T>C;Mutation_AA_syntax=p.L64P;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=100.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.191T>Cp.L64P;Gene_Description=180915239;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 180905352 . C T 117.0 PASS ALTCOUNT=22;DP=22.0;DP4=1,0,10,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S769|KIAA1614|mRNA|CODING|NM_020950|NM_020950.ex.5);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2307C>T;Mutation_AA_syntax=p.S769S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0;Tumour_Site_(cosmic)=bone;HGVS_Syntax(COSMIC)=c.2307C>Tp.S769S;Gene_Description=180915239;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 180905448 . G T 117.0 PASS ALTCOUNT=23;DP=23.0;DP4=1,0,14,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q5VZ46;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000367588,ENST00000367587;dbnsfpSIFT_score=0.570000;dbnsfpGERP++_NR=4.3;dbnsfpGERP++_RS=2.38;dbnsfp29way_logOdds=4.419;dbnsfp1000Gp1_AF=0.38553113553113555;dbnsfp1000Gp1_AFR_AF=0.3678861788617886;dbnsfp1000Gp1_EUR_AF=0.44854881266490765;dbnsfp1000Gp1_AMR_AF=0.48342541436464087;dbnsfp1000Gp1_ASN_AF=0.25524475524475526;dbnsfpESP5400_AA_AF=0.361798;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttT|L801F|KIAA1614|mRNA|CODING|NM_020950|NM_020950.ex.5);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2403G>T;Mutation_AA_syntax=p.L801F;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=3.13,100.0;Tumour_Site_(cosmic)=pancreas,bone;HGVS_Syntax(COSMIC)=c.2403G>Tp.L801F;Gene_Description=180915239;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 180913597 . A G 114.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,10,6;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=Q5VZ46-2,Q5VZ46;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000367588,ENST00000367587;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.94;dbnsfpGERP++_RS=4.94;dbnsfp29way_logOdds=9.5121;dbnsfp1000Gp1_AF=0.9958791208791209;dbnsfp1000Gp1_AFR_AF=0.9857723577235772;dbnsfp1000Gp1_EUR_AF=0.9986807387862797;dbnsfp1000Gp1_AMR_AF=0.9972375690607734;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.988329;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N1078D|KIAA1614|mRNA|CODING|NM_020950|NM_020950.ex.8);SEL_PRIMARY_EFF=0;Gene_Description=180915239;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 182356399 . A G 255.0 PASS ALTCOUNT=19;DP=33.0;DP4=8,7,9,10;AF1=0.57575756;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S65|GLUL|mRNA|CODING|NM_001033044|NM_001033044.ex.3),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S65|GLUL|mRNA|CODING|NM_001033056|NM_001033056.ex.3),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S65|GLUL|mRNA|CODING|NM_002065|NM_002065.ex.4);SEL_PRIMARY_EFF=0;Gene_Description=182361341;OMIM_ID=OMIM:138290;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 182551337 . A C 117.0 PASS ALTCOUNT=31;DP=31.0;DP4=1,0,14,17;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q6AI46,Q05823;dbnsfpInterpro_domain=Protein_kinase-like_domain_(1),Protein_kinase,_catalytic_domain_(1),;dbnsfpEnsembl_transcriptid=ENST00000367559,ENST00000444138,ENST00000539397;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.1;dbnsfpGERP++_RS=-5.59;dbnsfp29way_logOdds=3.9872;dbnsfp1000Gp1_AF=0.5247252747252747;dbnsfp1000Gp1_AFR_AF=0.25203252032520324;dbnsfp1000Gp1_EUR_AF=0.5844327176781002;dbnsfp1000Gp1_AMR_AF=0.47790055248618785;dbnsfp1000Gp1_ASN_AF=0.7097902097902098;dbnsfpESP5400_AA_AF=0.331193;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaT/gaG|D541E|RNASEL|mRNA|CODING|NM_021133|NM_021133.ex.4);SEL_PRIMARY_EFF=0;Gene_Description=182558394;OMIM_ID=OMIM:180435;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 183184616 . C T 255.0 PASS ALTCOUNT=16;DP=36.0;DP4=13,8,10,6;AF1=0.44444445;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S99|LAMC2|mRNA|CODING|NM_005562|NM_005562.ex.3),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S99|LAMC2|mRNA|CODING|NM_018891|NM_018891.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.297C>T;Mutation_AA_syntax=p.S99S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=2.08;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.297C>Tp.S99S;Gene_Description=183214262;OMIM_ID=OMIM:150292;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 183192304 . T G 255.0 PASS ALTCOUNT=12;DP=21.0;DP4=5,5,9,3;AF1=0.5714286;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggT/ggG|G266|LAMC2|mRNA|CODING|NM_005562|NM_005562.ex.7),SYNONYMOUS_CODING(LOW|SILENT|ggT/ggG|G266|LAMC2|mRNA|CODING|NM_018891|NM_018891.ex.7);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.798T>G;Mutation_AA_syntax=p.G266G;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0,5.88;Tumour_Site_(cosmic)=thyroid,stomach;HGVS_Syntax(COSMIC)=c.798T>Gp.G266G;Gene_Description=183214262;OMIM_ID=OMIM:150292;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 183542387 . T C 255.0 PASS ALTCOUNT=10;DP=26.0;DP4=12,5,3,7;AF1=0.3846154;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=E9PHX3,P19878;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000367536,ENST00000392014,ENST00000413720,ENST00000367535;dbnsfpSIFT_score=0.860000;dbnsfpGERP++_NR=5.08;dbnsfpGERP++_RS=1.27;dbnsfp29way_logOdds=9.9264;dbnsfp1000Gp1_AF=0.5022893772893773;dbnsfp1000Gp1_AFR_AF=0.35772357723577236;dbnsfp1000Gp1_EUR_AF=0.46701846965699206;dbnsfp1000Gp1_AMR_AF=0.5469613259668509;dbnsfp1000Gp1_ASN_AF=0.6451048951048951;dbnsfpESP5400_AA_AF=0.365436;EFF=INTRON(MODIFIER||||NCF2|mRNA|CODING|NM_001190789|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K136R|NCF2|mRNA|CODING|NM_001190794|NM_001190794.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K181R|NCF2|mRNA|CODING|NM_000433|NM_000433.ex.5),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K181R|NCF2|mRNA|CODING|NM_001127651|NM_001127651.ex.6);SEL_PRIMARY_EFF=1;Mutation_cds_syntax=c.542A>G;Mutation_AA_syntax=p.K181R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=1.79,100.0,3.03;Tumour_Site_(cosmic)=pancreas,thyroid,large_intestine;HGVS_Syntax(COSMIC)=c.542A>Gp.K181R;Gene_Description=183560056;OMIM_ID=OMIM:608515;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 186276661 . A G 255.0 PASS ALTCOUNT=11;DP=15.0;DP4=3,2,4,7;AF1=0.73333335;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=Q92954-4,Q92954-3,Q92954,Q92954-2;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000367486,ENST00000367482,ENST00000367483,ENST00000367485,ENST00000445192;dbnsfpSIFT_score;dbnsfpGERP++_NR=3.74;dbnsfpGERP++_RS=-6.98;dbnsfp29way_logOdds=2.0325;dbnsfp1000Gp1_AF=0.24404761904761904;dbnsfp1000Gp1_AFR_AF=0.11585365853658537;dbnsfp1000Gp1_EUR_AF=0.34300791556728233;dbnsfp1000Gp1_AMR_AF=0.39502762430939226;dbnsfp1000Gp1_ASN_AF=0.12762237762237763;dbnsfpESP5400_AA_AF=0.188336;EFF=DOWNSTREAM(MODIFIER||||TPR|mRNA|CODING|NM_003292|),INTRON(MODIFIER||||MIR548F1|Non-coding_transcript|NON_CODING|NR_031642|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T470A|PRG4|mRNA|CODING|NM_001127710|NM_001127710.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T511A|PRG4|mRNA|CODING|NM_001127709|NM_001127709.ex.5),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T561A|PRG4|mRNA|CODING|NM_001303232|NM_001303232.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T563A|PRG4|mRNA|CODING|NM_001127708|NM_001127708.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T604A|PRG4|mRNA|CODING|NM_005807|NM_005807.ex.7);SEL_PRIMARY_EFF=2;Mutation_cds_syntax=c.1810A>G;Mutation_AA_syntax=p.T604A;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=20.0,2.7,2.63;Tumour_Site_(cosmic)=thyroid,pancreas,central_nervous_system;HGVS_Syntax(COSMIC)=c.1810A>Gp.T604A;Gene_Description=186283694,186446655;OMIM_ID=OMIM:604283;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 186277088 . G C 117.0 PASS ALTCOUNT=36;DP=36.0;DP4=1,0,12,24;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q92954-4,Q92954-3,Q92954,Q92954-2;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000367486,ENST00000367482,ENST00000367483,ENST00000367485,ENST00000445192;dbnsfpSIFT_score;dbnsfpGERP++_NR=0.609;dbnsfpGERP++_RS=-1.22;dbnsfp29way_logOdds=7.5014;dbnsfp1000Gp1_AF=1.0;dbnsfp1000Gp1_AFR_AF=1.0;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=1.0;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||TPR|mRNA|CODING|NM_003292|),INTRON(MODIFIER||||MIR548F1|Non-coding_transcript|NON_CODING|NR_031642|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|C612S|PRG4|mRNA|CODING|NM_001127710|NM_001127710.ex.4),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|C653S|PRG4|mRNA|CODING|NM_001127709|NM_001127709.ex.5),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|C703S|PRG4|mRNA|CODING|NM_001303232|NM_001303232.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|C705S|PRG4|mRNA|CODING|NM_001127708|NM_001127708.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|C746S|PRG4|mRNA|CODING|NM_005807|NM_005807.ex.7);SEL_PRIMARY_EFF=2;Gene_Description=186283694,186446655;OMIM_ID=OMIM:604283;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 186277989 . A G 255.0 PASS ALTCOUNT=24;DP=42.0;DP4=6,13,8,16;AF1=0.5714286;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||TPR|mRNA|CODING|NM_003292|),INTRON(MODIFIER||||MIR548F1|Non-coding_transcript|NON_CODING|NR_031642|),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P1003|PRG4|mRNA|CODING|NM_001303232|NM_001303232.ex.6),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P1005|PRG4|mRNA|CODING|NM_001127708|NM_001127708.ex.6),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P1046|PRG4|mRNA|CODING|NM_005807|NM_005807.ex.7),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P912|PRG4|mRNA|CODING|NM_001127710|NM_001127710.ex.4),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P953|PRG4|mRNA|CODING|NM_001127709|NM_001127709.ex.5);SEL_PRIMARY_EFF=2;Mutation_cds_syntax=c.3138A>G;Mutation_AA_syntax=p.P1046P;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=20.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.3138A>Gp.P1046P;Gene_Description=186283694,186446655;OMIM_ID=OMIM:604283;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 196801042 . G T 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,4,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|cgG/cgT|R302|CFHR1|mRNA|CODING|NM_002113|NM_002113.ex.6);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.906G>T;Mutation_AA_syntax=p.R302R;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0,4.55;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,large_intestine;HGVS_Syntax(COSMIC)=c.906G>Tp.R302R;Gene_Description=196801319;OMIM_ID=OMIM:134371;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 196946775 . T C 255.0 PASS ALTCOUNT=10;DP=22.0;DP4=9,3,5,6;AF1=0.45454547;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000367414;dbnsfpSIFT_score=0.270000;dbnsfpGERP++_NR=1.38;dbnsfpGERP++_RS=0.199;dbnsfp29way_logOdds=3.162;dbnsfp1000Gp1_AF=0.13873626373626374;dbnsfp1000Gp1_AFR_AF=0.43089430894308944;dbnsfp1000Gp1_EUR_AF=0.07651715039577836;dbnsfp1000Gp1_AMR_AF=0.09116022099447514;dbnsfp1000Gp1_ASN_AF=0.0;dbnsfpESP5400_AA_AF=0.422151;EFF=UTR_5_PRIME(MODIFIER||||CFHR5|mRNA|CODING|NM_030787|NM_030787.ex.1);SEL_PRIMARY_EFF=0;Gene_Description=196978803;OMIM_ID=OMIM:608593;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 196967458 . G T 255.0 PASS ALTCOUNT=11;DP=20.0;DP4=4,6,7,4;AF1=0.55;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CFHR5|mRNA|CODING|NM_030787|);SEL_PRIMARY_EFF=0;Gene_Description=196978803;OMIM_ID=OMIM:608593;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 197031021 rs6003 C T 255.0 PASS ALTCOUNT=10;DP=30.0;DP4=12,9,4,6;AF1=0.33333334;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P05160;dbnsfpInterpro_domain=Complement_control_module_(2),Sushi/SCR/CCP_(3),;dbnsfpEnsembl_transcriptid=ENST00000367412;dbnsfpSIFT_score=0.220000;dbnsfpGERP++_NR=5.85;dbnsfpGERP++_RS=-0.818;dbnsfp29way_logOdds=4.8681;dbnsfp1000Gp1_AF=0.8058608058608059;dbnsfp1000Gp1_AFR_AF=0.35365853658536583;dbnsfp1000Gp1_EUR_AF=0.920844327176781;dbnsfp1000Gp1_AMR_AF=0.8950276243093923;dbnsfp1000Gp1_ASN_AF=0.986013986013986;dbnsfpESP5400_AA_AF=0.414393;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R115H|F13B|mRNA|CODING|NM_001994|NM_001994.ex.3);SEL_PRIMARY_EFF=0;PUBMED_CITATIONS=1;CLINICAL_SIGNIFICANCE=risk//\@factor;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2382(C);HGVS=(NC_000001.10:g.197031021C>T,NM_001994.2:c.344G>A,NP_001985.2:p.Arg115His);Gene_Description=197036397;OMIM_ID=OMIM:134580;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 197070901 rs964201 A G 117.0 PASS ALTCOUNT=18;DP=18.0;DP4=1,0,10,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=E7EQ84,Q8IZT6;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000367409,ENST00000367406;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.83;dbnsfpGERP++_RS=4.83;dbnsfp29way_logOdds=13.6307;dbnsfp1000Gp1_AF=0.9972527472527473;dbnsfp1000Gp1_AFR_AF=1.0;dbnsfp1000Gp1_EUR_AF=0.9947229551451188;dbnsfp1000Gp1_AMR_AF=0.994475138121547;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.999465;EFF=INTRON(MODIFIER||||ASPM|mRNA|CODING|NM_001206846|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y2494H|ASPM|mRNA|CODING|NM_018136|NM_018136.ex.18);SEL_PRIMARY_EFF=1;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=not//\@provided,germline;GLOBAL_MAF=0.0026(A);HGVS=(NC_000001.10:g.197070901A>G,NM_001206846.1:c.4066-5607T>C,p.Y2494H:TAC>CAC),(,,);Gene_Description=197115824;OMIM_ID=OMIM:605481;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 197112533 rs6677082 G A 255.0 PASS ALTCOUNT=12;DP=34.0;DP4=14,9,5,7;AF1=0.3529412;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S283|ASPM|mRNA|CODING|NM_001206846|NM_001206846.ex.3),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S283|ASPM|mRNA|CODING|NM_018136|NM_018136.ex.3);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Conflicting//\@interpretations//\@of//\@pathogenicity;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2444(G);HGVS=(,,),(NC_000001.10:g.197112533G>A,NM_018136.4:c.849C>T,NP_060606.3:p.(//\&);Gene_Description=197115824;OMIM_ID=OMIM:605481;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 197316408 . T G 117.0 PASS ALTCOUNT=21;DP=21.0;DP4=1,0,19,2;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_001193640|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_001257965|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_001257966|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_201253|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NR_047563|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NR_047564|);SEL_PRIMARY_EFF=0;Gene_Description=197447585;OMIM_ID=OMIM:604210;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 197316435 . T C 117.0 PASS ALTCOUNT=30;DP=31.0;DP4=1,0,19,11;AF1=0.9677419;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_001193640|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_001257965|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_001257966|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_201253|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NR_047563|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NR_047564|);SEL_PRIMARY_EFF=0;Gene_Description=197447585;OMIM_ID=OMIM:604210;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 197325908 . T G 114.0 PASS ALTCOUNT=21;DP=21.0;DP4=1,0,21,0;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_001193640|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_001257965|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_001257966|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NM_201253|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NR_047563|),INTRON(MODIFIER||||CRB1|mRNA|CODING|NR_047564|);SEL_PRIMARY_EFF=0;GWASCAT=Asthma;Gene_Description=197447585;OMIM_ID=OMIM:604210;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 197390368 rs3902057 A G 117.0 PASS ALTCOUNT=44;DP=44.0;DP4=1,0,26,18;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y540C|CRB1|mRNA|CODING|NR_047563|NR_047563.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y540C|CRB1|mRNA|CODING|NR_047564|NR_047564.ex.6),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L358|CRB1|mRNA|CODING|NM_001193640|NM_001193640.ex.4),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L401|CRB1|mRNA|CODING|NM_001257965|NM_001257965.ex.8),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L470|CRB1|mRNA|CODING|NM_001257966|NM_001257966.ex.6),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L470|CRB1|mRNA|CODING|NM_201253|NM_201253.ex.6);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0803(A);HGVS=(,,),(,,),(,,),(,,),(,,),(NC_000001.10:g.197390368A>G,NM_201253.2:c.1410G//\&,NP_957705.1:p.(//\&);Gene_Description=197447585;OMIM_ID=OMIM:604210;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 201009182 . A G 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,3,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q13698;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000362061,ENST00000367338;dbnsfpSIFT_score=0.020000;dbnsfpGERP++_NR=4.93;dbnsfpGERP++_RS=4.93;dbnsfp29way_logOdds=8.9075;dbnsfp1000Gp1_AF=0.21245421245421245;dbnsfp1000Gp1_AFR_AF=0.5691056910569106;dbnsfp1000Gp1_EUR_AF=0.10817941952506596;dbnsfp1000Gp1_AMR_AF=0.10220994475138122;dbnsfp1000Gp1_ASN_AF=0.11363636363636363;dbnsfpESP5400_AA_AF=0.535848;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tCg|L1800S|CACNA1S|mRNA|CODING|NM_000069|NM_000069.ex.44);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.5399T>C;Mutation_AA_syntax=p.L1800S;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=16.67;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.5399T>Cp.L1800S;Gene_Description=201081694;OMIM_ID=OMIM:114208;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 201020105 rs6702590 A G 114.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,11,4;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CACNA1S|mRNA|CODING|NM_000069|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1196(A);HGVS=(NC_000001.10:g.201020105A>G,NM_000069.2:c.4113+7T>C,);Gene_Description=201081694;OMIM_ID=OMIM:114208;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 201038687 . A G 255.0 PASS ALTCOUNT=14;DP=36.0;DP4=10,13,9,5;AF1=0.3888889;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F801|CACNA1S|mRNA|CODING|NM_000069|NM_000069.ex.18);SEL_PRIMARY_EFF=0;Gene_Description=201081694;OMIM_ID=OMIM:114208;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 201044748 . A G 117.0 PASS ALTCOUNT=27;DP=27.0;DP4=1,0,10,17;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CACNA1S|mRNA|CODING|NM_000069|);SEL_PRIMARY_EFF=0;Gene_Description=201081694;OMIM_ID=OMIM:114208;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 201060865 . G A 255.0 PASS ALTCOUNT=15;DP=23.0;DP4=5,4,6,9;AF1=0.65217394;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I199|CACNA1S|mRNA|CODING|NM_000069|NM_000069.ex.5);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.597C>T;Mutation_AA_syntax=p.I199I;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=20.0,33.33;Tumour_Site_(cosmic)=thyroid,bone;HGVS_Syntax(COSMIC)=c.597C>Tp.I199I;Gene_Description=201081694;OMIM_ID=OMIM:114208;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 201288898 . A C 114.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,8,3;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||PKP1|mRNA|CODING|NM_000299|),INTRON(MODIFIER||||PKP1|mRNA|CODING|NM_001005337|);SEL_PRIMARY_EFF=0;Gene_Description=201302121;OMIM_ID=OMIM:601975;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 201328729 rs45495692 G A 255.0 PASS ALTCOUNT=17;DP=26.0;DP4=8,2,13,4;AF1=0.65384614;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_000364|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001430|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001431|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001432|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276345|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276346|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276347|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Likely//\@benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0146(A);HGVS=(,,),(NC_000001.10:g.201328729G>A,NM_001001430.2:c.821+22C>T,),(,,),(,,),(,,),(,,),(,,);Gene_Description=201346828;OMIM_ID=OMIM:191045;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 201336984 . C T 255.0 PASS ALTCOUNT=11;DP=17.0;DP4=3,4,5,6;AF1=0.64705884;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_000364|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001430|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001431|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001432|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276345|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276346|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276347|);SEL_PRIMARY_EFF=0;Gene_Description=201346828;OMIM_ID=OMIM:191045;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 201341175 . CAGAAG C 255.0 Pass ALTCOUNT=013;DP=25;DP4=7,4,8,5;STDP4=25,0,13,0;AF1=0.52;;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_000364|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001430|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001431|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001432|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276345|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276346|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276347|);SEL_PRIMARY_EFF=0;Gene_Description=201346828;OMIM_ID=OMIM:191045;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,12,28:10 chr1 201341341 . C T 255.0 PASS ALTCOUNT=11;DP=15.0;DP4=1,4,3,8;AF1=0.73333335;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_000364|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001430|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001431|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001001432|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276345|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276346|),INTRON(MODIFIER||||TNNT2|mRNA|CODING|NM_001276347|);SEL_PRIMARY_EFF=0;Gene_Description=201346828;OMIM_ID=OMIM:191045;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 205492756 . A G 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,5,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CDK18|mRNA|CODING|NM_002596|),INTRON(MODIFIER||||CDK18|mRNA|CODING|NM_212502|),SYNONYMOUS_CODING(LOW|SILENT|gtA/gtG|V92|CDK18|mRNA|CODING|NM_212503|NM_212503.ex.3);SEL_PRIMARY_EFF=2;Gene_Description=205501921;OMIM_ID=OMIM:169190;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 205495976 . A G 114.0 PASS ALTCOUNT=37;DP=37.0;DP4=1,0,13,24;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||CDK18|mRNA|CODING|NM_002596|),INTRON(MODIFIER||||CDK18|mRNA|CODING|NM_212502|),INTRON(MODIFIER||||CDK18|mRNA|CODING|NM_212503|);SEL_PRIMARY_EFF=0;Gene_Description=205501921;OMIM_ID=OMIM:169190;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 209788703 . T C 255.0 PASS ALTCOUNT=11;DP=18.0;DP4=3,5,4,7;AF1=0.6111111;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||CAMK1G|mRNA|CODING|NM_020439|),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S1144|LAMB3|mRNA|CODING|NM_000228|NM_000228.ex.23),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S1144|LAMB3|mRNA|CODING|NM_001017402|NM_001017402.ex.22),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|S1144|LAMB3|mRNA|CODING|NM_001127641|NM_001127641.ex.23);SEL_PRIMARY_EFF=1;Mutation_cds_syntax=c.3432A>G;Mutation_AA_syntax=p.S1144S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.3432A>Gp.S1144S;Gene_Description=209825820;OMIM_ID=OMIM:150310;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 209804095 . G A 255.0 PASS ALTCOUNT=10;DP=18.0;DP4=3,6,3,7;AF1=0.5555556;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||LAMB3|mRNA|CODING|NM_000228|),INTRON(MODIFIER||||LAMB3|mRNA|CODING|NM_001017402|),INTRON(MODIFIER||||LAMB3|mRNA|CODING|NM_001127641|);SEL_PRIMARY_EFF=0;Gene_Description=209825820;OMIM_ID=OMIM:150310;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 209811886 . T G 255.0 PASS ALTCOUNT=16;DP=29.0;DP4=8,6,10,6;AF1=0.55172414;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcA/tcC|S97|LAMB3|mRNA|CODING|NM_000228|NM_000228.ex.4),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcC|S97|LAMB3|mRNA|CODING|NM_001017402|NM_001017402.ex.3),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcC|S97|LAMB3|mRNA|CODING|NM_001127641|NM_001127641.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.291A>C;Mutation_AA_syntax=p.S97S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0,4.35;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,stomach;HGVS_Syntax(COSMIC)=c.291A>Cp.S97S;Gene_Description=209825820;OMIM_ID=OMIM:150310;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 209823354 . G A 255.0 PASS ALTCOUNT=16;DP=26.0;DP4=6,5,5,11;AF1=0.61538464;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T46|LAMB3|mRNA|CODING|NM_000228|NM_000228.ex.3),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T46|LAMB3|mRNA|CODING|NM_001017402|NM_001017402.ex.2),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T46|LAMB3|mRNA|CODING|NM_001127641|NM_001127641.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.138C>T;Mutation_AA_syntax=p.T46T;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0,4.35,1.15;Tumour_Site_(cosmic)=thyroid,stomach,large_intestine;HGVS_Syntax(COSMIC)=c.138C>Tp.T46T;Gene_Description=209825820;OMIM_ID=OMIM:150310;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 209968684 . C A 255.0 PASS ALTCOUNT=13;DP=28.0;DP4=7,9,6,7;AF1=0.4642857;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcG/tcT|S153|IRF6|mRNA|CODING|NM_006147|NM_006147.ex.5),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcT|S58|IRF6|mRNA|CODING|NM_001206696|NM_001206696.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.459G>T;Mutation_AA_syntax=p.S153S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0,7.14;Tumour_Site_(cosmic)=thyroid,liver;HGVS_Syntax(COSMIC)=c.459G>Tp.S153S;Gene_Description=209979520;OMIM_ID=OMIM:607199;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 213068233 . C T 117.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,11,1;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||FLVCR1|mRNA|CODING|NM_014053|);SEL_PRIMARY_EFF=0;Gene_Description=213072705;OMIM_ID=OMIM:609144;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 214531239 . C T 117.0 PASS ALTCOUNT=22;DP=22.0;DP4=1,0,15,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=UTR_3_PRIME(MODIFIER||||PTPN14|mRNA|CODING|NM_005401|NM_005401.ex.19);SEL_PRIMARY_EFF=0;Gene_Description=214725024;OMIM_ID=OMIM:603155;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 214542819 . T C 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,14,2;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E1084|PTPN14|mRNA|CODING|NM_005401|NM_005401.ex.17);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.3252A>G;Mutation_AA_syntax=p.E1084E;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=5.26;Tumour_Site_(cosmic)=stomach;HGVS_Syntax(COSMIC)=c.3252A>Gp.E1084E;Gene_Description=214725024;OMIM_ID=OMIM:603155;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 214564340 . T C 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,12,4;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R326|PTPN14|mRNA|CODING|NM_005401|NM_005401.ex.11);SEL_PRIMARY_EFF=0;Gene_Description=214725024;OMIM_ID=OMIM:603155;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 214567013 . CG C 255.0 Pass ALTCOUNT=012;DP=13;DP4=0,0,9,3;STDP4=13,0,12,0;AF1=0.9230769;;MQ=16;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||PTPN14|mRNA|CODING|NM_005401|);SEL_PRIMARY_EFF=0;Gene_Description=214725024;OMIM_ID=OMIM:603155;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,111,255:10 chr1 214571251 . A C 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,8,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||PTPN14|mRNA|CODING|NM_005401|);SEL_PRIMARY_EFF=0;Gene_Description=214725024;OMIM_ID=OMIM:603155;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 215848587 rs2797234 T C 117.0 PASS ALTCOUNT=32;DP=32.0;DP4=1,0,12,20;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T4222|USH2A|mRNA|CODING|NM_206933|NM_206933.ex.63);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3031(C);HGVS=(NC_000001.10:g.215848587T>C,NM_206933.2:c.12666A>G,p.T4222T:ACA>ACG);Mutation_cds_syntax=c.12666A>G;Mutation_AA_syntax=p.T4222T;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=0.27,1.43,10.0,3.23,1.92,0.71,3.45;Tumour_Site_(cosmic)=large_intestine,stomach,haematopoietic_and_lymphoid_tissue,skin;HGVS_Syntax(COSMIC)=c.12666A>Gp.T4222T;Gene_Description=216596738;OMIM_ID=OMIM:608400;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 215848641 rs2797235 T C 117.0 PASS ALTCOUNT=25;DP=25.0;DP4=1,0,13,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T4204|USH2A|mRNA|CODING|NM_206933|NM_206933.ex.63);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3103(T);HGVS=(NC_000001.10:g.215848641T>C,NM_206933.2:c.12612G//\&,p.Thr4204Thr);Mutation_cds_syntax=c.12612A>G;Mutation_AA_syntax=p.T4204T;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=1.43;Tumour_Site_(cosmic)=stomach;HGVS_Syntax(COSMIC)=c.12612A>Gp.T4204T;Gene_Description=216596738;OMIM_ID=OMIM:608400;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 216051157 rs12118814 C T 255.0 PASS ALTCOUNT=11;DP=25.0;DP4=8,7,7,4;AF1=0.44;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=O75445;dbnsfpInterpro_domain=Fibronectin,_type_III_(3),Immunoglobulin-like_fold_(1),;dbnsfpEnsembl_transcriptid=ENST00000307340,ENST00000366943;dbnsfpSIFT_score=0.590000;dbnsfpGERP++_NR=5.9;dbnsfpGERP++_RS=3.53;dbnsfp29way_logOdds=9.0735;dbnsfp1000Gp1_AF=0.021062271062271064;dbnsfp1000Gp1_AFR_AF=0.02032520325203252;dbnsfp1000Gp1_EUR_AF=0.03430079155672823;dbnsfp1000Gp1_AMR_AF=0.027624309392265192;dbnsfp1000Gp1_ASN_AF=0.0;dbnsfpESP5400_AA_AF=0.020332;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2875Q|USH2A|mRNA|CODING|NM_206933|NM_206933.ex.43);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0150(T);HGVS=(NC_000001.10:g.216051157C>T,NM_206933.2:c.8624G>A,NP_996816.2:p.Arg2875Gln);Mutation_cds_syntax=c.8624G>A;Mutation_AA_syntax=p.R2875Q;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=25.0;Tumour_Site_(cosmic)=soft_tissue;HGVS_Syntax(COSMIC)=c.8624G>Ap.R2875Q;Gene_Description=216596738;OMIM_ID=OMIM:608400;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 216172380 rs10864219 A G 255.0 PASS ALTCOUNT=10;DP=16.0;DP4=2,5,8,2;AF1=0.625;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=O75445;dbnsfpInterpro_domain=Fibronectin,_type_III_(3),Immunoglobulin-like_fold_(1),;dbnsfpEnsembl_transcriptid=ENST00000307340,ENST00000366943;dbnsfpSIFT_score=0.650000;dbnsfpGERP++_NR=5.77;dbnsfpGERP++_RS=5.77;dbnsfp29way_logOdds=11.5472;dbnsfp1000Gp1_AF=0.5934065934065934;dbnsfp1000Gp1_AFR_AF=0.4268292682926829;dbnsfp1000Gp1_EUR_AF=0.49868073878627966;dbnsfp1000Gp1_AMR_AF=0.6187845303867403;dbnsfp1000Gp1_ASN_AF=0.8461538461538461;dbnsfpESP5400_AA_AF=0.437132;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I2169T|USH2A|mRNA|CODING|NM_206933|NM_206933.ex.34);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4065(A);HGVS=(NC_000001.10:g.216172380A>G,NM_206933.2:c.6506T>C,p.I2169T:ATA>ACA);Mutation_cds_syntax=c.6506T>C;Mutation_AA_syntax=p.I2169T;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.27,0.71,3.57,0.31;Tumour_Site_(cosmic)=large_intestine,pancreas;HGVS_Syntax(COSMIC)=c.6506T>Cp.I2169T;Gene_Description=216596738;OMIM_ID=OMIM:608400;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 216348764 rs1805049 C T 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,5,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=O75445-2,O75445;dbnsfpInterpro_domain=Fibronectin,_type_III_(1),Immunoglobulin-like_fold_(1),;dbnsfpEnsembl_transcriptid=ENST00000307340,ENST00000366943,ENST00000366942;dbnsfpSIFT_score=0.120000;dbnsfpGERP++_NR=5.38;dbnsfpGERP++_RS=-2.24;dbnsfp29way_logOdds=1.7006;dbnsfp1000Gp1_AF=0.6666666666666666;dbnsfp1000Gp1_AFR_AF=0.5487804878048781;dbnsfp1000Gp1_EUR_AF=0.6345646437994723;dbnsfp1000Gp1_AMR_AF=0.7016574585635359;dbnsfp1000Gp1_ASN_AF=0.7884615384615384;dbnsfpESP5400_AA_AF=0.598716;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R1486K|USH2A|mRNA|CODING|NM_007123|NM_007123.ex.21),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R1486K|USH2A|mRNA|CODING|NM_206933|NM_206933.ex.21);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3377(C);HGVS=(,,),(NC_000001.10:g.216348764C>T,NM_206933.2:c.4457A//\&,p.Arg1486Lys);Mutation_cds_syntax=c.4457G>A;Mutation_AA_syntax=p.R1486K;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=3.03,0.71,0.27,2.0,1.15;Tumour_Site_(cosmic)=liver,large_intestine;HGVS_Syntax(COSMIC)=c.4457G>Ap.R1486K;Gene_Description=216596738;OMIM_ID=OMIM:608400;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 216390694 . C T 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,15,1;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||USH2A|mRNA|CODING|NM_007123|),INTRON(MODIFIER||||USH2A|mRNA|CODING|NM_206933|);SEL_PRIMARY_EFF=0;Gene_Description=216596738;OMIM_ID=OMIM:608400;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 216592003 rs4253963 T C 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,4,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T168|USH2A|mRNA|CODING|NM_007123|NM_007123.ex.3),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T168|USH2A|mRNA|CODING|NM_206933|NM_206933.ex.3);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3672(T);HGVS=(,,),(NC_000001.10:g.216592003T>C,NM_206933.2:c.504A>G,p.T168T:ACA>ACG);Gene_Description=216596738;OMIM_ID=OMIM:608400;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 216595306 rs10779261 C T 117.0 PASS ALTCOUNT=34;DP=34.0;DP4=1,0,28,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=O75445-2,O75445;dbnsfpInterpro_domain=Concanavalin_A-like_lectin/glucanase_(1),;dbnsfpEnsembl_transcriptid=ENST00000307340,ENST00000366943,ENST00000366942;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.14;dbnsfpGERP++_RS=-1.4;dbnsfp29way_logOdds=0.8739;dbnsfp1000Gp1_AF=0.7623626373626373;dbnsfp1000Gp1_AFR_AF=0.806910569105691;dbnsfp1000Gp1_EUR_AF=0.7282321899736148;dbnsfp1000Gp1_AMR_AF=0.712707182320442;dbnsfp1000Gp1_ASN_AF=0.8006993006993007;dbnsfpESP5400_AA_AF=0.76458;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A125T|USH2A|mRNA|CODING|NM_007123|NM_007123.ex.2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A125T|USH2A|mRNA|CODING|NM_206933|NM_206933.ex.2);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2388(C);HGVS=(,,),(NC_000001.10:g.216595306C>T,NM_206933.2:c.373G>A,p.A125T:GCA>ACA);Gene_Description=216596738;OMIM_ID=OMIM:608400;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 220369745 . TA T 255.0 Pass ALTCOUNT=023;DP=26;DP4=1,1,11,12;STDP4=26,0,23,0;AF1=0.88461536;;MQ=37;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||MIR664A|Non-coding_transcript|NON_CODING|NR_031705|),DOWNSTREAM(MODIFIER||||SNORA36B|Non-coding_transcript|NON_CODING|NR_002994|),INTRON(MODIFIER||||RAB3GAP2|mRNA|CODING|NM_012414|);SEL_PRIMARY_EFF=2;Gene_Description=220445843;OMIM_ID=OMIM:609275;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,5,5:10 chr1 223116472 . G A 255.0 PASS ALTCOUNT=21;DP=35.0;DP4=6,9,13,8;AF1=0.6;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q96F81;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000360254,ENST00000284476;dbnsfpSIFT_score=0.850000;dbnsfpGERP++_NR=5.62;dbnsfpGERP++_RS=4.68;dbnsfp29way_logOdds=15.3736;dbnsfp1000Gp1_AF=0.18269230769230768;dbnsfp1000Gp1_AFR_AF=0.14227642276422764;dbnsfp1000Gp1_EUR_AF=0.1437994722955145;dbnsfp1000Gp1_AMR_AF=0.17679558011049723;dbnsfp1000Gp1_ASN_AF=0.2727272727272727;dbnsfpESP5400_AA_AF=0.170412;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E103K|DISP1|mRNA|CODING|NM_032890|NM_032890.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.307G>A;Mutation_AA_syntax=p.E103K;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=50.0,100.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.307G>Ap.E103K;Gene_Description=223179337;OMIM_ID=OMIM:607502;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 223116474 . G T 255.0 PASS ALTCOUNT=21;DP=34.0;DP4=4,10,14,7;AF1=0.61764705;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q96F81;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000360254,ENST00000284476;dbnsfpSIFT_score=0.570000;dbnsfpGERP++_NR=5.62;dbnsfpGERP++_RS=4.51;dbnsfp29way_logOdds=15.411;dbnsfp1000Gp1_AF=0.18269230769230768;dbnsfp1000Gp1_AFR_AF=0.14227642276422764;dbnsfp1000Gp1_EUR_AF=0.1437994722955145;dbnsfp1000Gp1_AMR_AF=0.17679558011049723;dbnsfp1000Gp1_ASN_AF=0.2727272727272727;dbnsfpESP5400_AA_AF=0.170412;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaT|E103D|DISP1|mRNA|CODING|NM_032890|NM_032890.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.309G>T;Mutation_AA_syntax=p.E103D;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=50.0,100.0,81.82;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,soft_tissue;HGVS_Syntax(COSMIC)=c.309G>Tp.E103D;Gene_Description=223179337;OMIM_ID=OMIM:607502;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 223168213 . T C 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,11,2;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DISP1|mRNA|CODING|NM_032890|);SEL_PRIMARY_EFF=0;Gene_Description=223179337;OMIM_ID=OMIM:607502;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 223177574 . A G 117.0 PASS ALTCOUNT=42;DP=42.0;DP4=1,0,15,27;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K945|DISP1|mRNA|CODING|NM_032890|NM_032890.ex.10);SEL_PRIMARY_EFF=0;Gene_Description=223179337;OMIM_ID=OMIM:607502;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 225609884 . A G 114.0 PASS ALTCOUNT=20;DP=20.0;DP4=1,0,3,17;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P87|LBR|mRNA|CODING|NM_002296|NM_002296.ex.3),SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P87|LBR|mRNA|CODING|NM_194442|NM_194442.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=225616557;OMIM_ID=OMIM:600024;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 225611661 . C T 255.0 PASS ALTCOUNT=12;DP=21.0;DP4=7,3,6,6;AF1=0.5714286;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V39|LBR|mRNA|CODING|NM_002296|NM_002296.ex.2),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V39|LBR|mRNA|CODING|NM_194442|NM_194442.ex.2);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.117G>A;Mutation_AA_syntax=p.V39V;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=25.0;Tumour_Site_(cosmic)=kidney;HGVS_Syntax(COSMIC)=c.117G>Ap.V39V;Gene_Description=225616557;OMIM_ID=OMIM:600024;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 226019633 rs1051740 T C 114.0 PASS ALTCOUNT=23;DP=24.0;DP4=1,0,5,18;AF1=0.9583333;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=P07099;dbnsfpInterpro_domain=Epoxide_hydrolase,_N-terminal_(1),;dbnsfpEnsembl_transcriptid=ENST00000445856,ENST00000272167,ENST00000448202,ENST00000366837;dbnsfpSIFT_score=0.000000;dbnsfpGERP++_NR=5.58;dbnsfpGERP++_RS=5.58;dbnsfp29way_logOdds=15.7585;dbnsfp1000Gp1_AF=0.3159340659340659;dbnsfp1000Gp1_AFR_AF=0.15853658536585366;dbnsfp1000Gp1_EUR_AF=0.30474934036939316;dbnsfp1000Gp1_AMR_AF=0.3342541436464088;dbnsfp1000Gp1_ASN_AF=0.45454545454545453;dbnsfpESP5400_AA_AF=0.17817;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y113H|EPHX1|mRNA|CODING|NM_000120|NM_000120.ex.3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y113H|EPHX1|mRNA|CODING|NM_001136018|NM_001136018.ex.3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y113H|EPHX1|mRNA|CODING|NM_001291163|NM_001291163.ex.3);SEL_PRIMARY_EFF=0;PUBMED_CITATIONS=1;CLINICAL_SIGNIFICANCE=risk//\@factor;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3133(C);HGVS=(,,),(NC_000001.10:g.226019633T>C,NM_001136018.3:c.337T>C,NP_001129490.1:p.Tyr113His),(,,);Mutation_cds_syntax=c.337T>C;Mutation_AA_syntax=p.Y113H;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=60.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.337T>Cp.Y113H;Gene_Description=226033262;OMIM_ID=OMIM:132810;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 226550924 . G C 117.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,2,10;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||PARP1|mRNA|CODING|NM_001618|);SEL_PRIMARY_EFF=0;Gene_Description=226595801;OMIM_ID=OMIM:173870;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 226556094 . T C 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,3,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||PARP1|mRNA|CODING|NM_001618|);SEL_PRIMARY_EFF=0;Gene_Description=226595801;OMIM_ID=OMIM:173870;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 226570840 . T C 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,9,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|K352|PARP1|mRNA|CODING|NM_001618|NM_001618.ex.8);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1056A>G;Mutation_AA_syntax=p.K352K;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=25.0,50.0,2.33;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,thyroid,liver;HGVS_Syntax(COSMIC)=c.1056A>Gp.K352K;Gene_Description=226595801;OMIM_ID=OMIM:173870;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 227069677 . T C 114.0 PASS ALTCOUNT=35;DP=35.0;DP4=1,0,13,22;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A23|PSEN2|mRNA|CODING|NM_000447|NM_000447.ex.4),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A23|PSEN2|mRNA|CODING|NM_012486|NM_012486.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.69T>C,c.168T>C;Mutation_AA_syntax=p.A23A,p.A56A;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.69T>Cp.A23A,c.168T>Cp.A56A;Gene_Description=227083804;OMIM_ID=OMIM:600759;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 227069737 . C T 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,2,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N43|PSEN2|mRNA|CODING|NM_000447|NM_000447.ex.4),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N43|PSEN2|mRNA|CODING|NM_012486|NM_012486.ex.4);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.129C>T,c.228C>T;Mutation_AA_syntax=p.N43N,p.N76N;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.129C>Tp.N43N,c.228C>Tp.N76N;Gene_Description=227083804;OMIM_ID=OMIM:600759;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 227071525 . C T 117.0 PASS ALTCOUNT=27;DP=27.0;DP4=1,0,9,18;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H87|PSEN2|mRNA|CODING|NM_000447|NM_000447.ex.5),SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H87|PSEN2|mRNA|CODING|NM_012486|NM_012486.ex.5);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.360C>T,c.261C>T;Mutation_AA_syntax=p.H120H,p.H87H;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0,50.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,thyroid;HGVS_Syntax(COSMIC)=c.360C>Tp.H120H,c.261C>Tp.H87H;Gene_Description=227083804;OMIM_ID=OMIM:600759;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 227078955 . T C 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,9,4;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||PSEN2|mRNA|CODING|NM_000447|),INTRON(MODIFIER||||PSEN2|mRNA|CODING|NM_012486|);SEL_PRIMARY_EFF=0;Gene_Description=227083804;OMIM_ID=OMIM:600759;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 227171958 . G C 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,3,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ADCK3|mRNA|CODING|NM_020247|);SEL_PRIMARY_EFF=0;Gene_Description=227175246;OMIM_ID=OMIM:606980;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 227174210 rs3738725 T C 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,11,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=DOWNSTREAM(MODIFIER||||CDC42BPA|mRNA|CODING|NM_003607|),DOWNSTREAM(MODIFIER||||CDC42BPA|mRNA|CODING|NM_014826|),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S572|ADCK3|mRNA|CODING|NM_020247|NM_020247.ex.15);SEL_PRIMARY_EFF=2;CLINICAL_SIGNIFICANCE=Likely//\@benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3139(C);HGVS=(,,),(,,),(NC_000001.10:g.227174210T>C,NM_020247.4:c.1716T>C,NP_064632.2:p.Ser572//\&);Mutation_cds_syntax=c.879T>C,c.1716T>C;Mutation_AA_syntax=p.S293S,p.S572S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=9.09,66.67;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.879T>Cp.S293S,c.1716T>Cp.S572S;Gene_Description=227175246;OMIM_ID=OMIM:606980;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 228412227 . T C 255.0 PASS ALTCOUNT=11;DP=23.0;DP4=9,4,8,3;AF1=0.47826087;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S907|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.9),SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S907|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.9),SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S999|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.10);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2721T>G;Mutation_AA_syntax=p.S907R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=8.33,10.0,7.14,3.23;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.2721T>Gp.S907R;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228412228 . G A 255.0 PASS ALTCOUNT=10;DP=27.0;DP4=12,6,7,3;AF1=0.37037036;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q5VST9,Q5VST9-3;dbnsfpInterpro_domain=Immunoglobulin_subtype_(1),Immunoglobulin_I-set_(1),Immunoglobulin-like_(1),Immunoglobulin-like_fold_(1),;dbnsfpEnsembl_transcriptid=ENST00000284548,ENST00000422127;dbnsfpSIFT_score=0.280000;dbnsfpGERP++_NR=4.42;dbnsfpGERP++_RS=3.5;dbnsfp29way_logOdds=12.898;dbnsfp1000Gp1_AF=0.2573260073260073;dbnsfp1000Gp1_AFR_AF=0.25203252032520324;dbnsfp1000Gp1_EUR_AF=0.3007915567282322;dbnsfp1000Gp1_AMR_AF=0.3314917127071823;dbnsfp1000Gp1_ASN_AF=0.15734265734265734;dbnsfpESP5400_AA_AF=0.350254;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A1000T|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.10),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A908T|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.9),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A908T|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.9);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2722G>A;Mutation_AA_syntax=p.A908T;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=31.58,27.27,25.0,28.57;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.2722G>Ap.A908T;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228412308 . G A 255.0 PASS ALTCOUNT=21;DP=37.0;DP4=8,9,10,11;AF1=0.5675676;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S1026|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.10),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S934|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.9),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S934|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.9);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2802G>A;Mutation_AA_syntax=p.S934S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=10.0,3.23,8.33,7.14;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.2802G>Ap.S934S;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228431095 . A G 255.0 PASS ALTCOUNT=11;DP=20.0;DP4=2,8,6,5;AF1=0.55;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T1047|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.10),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T1047|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.10),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T1139|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.11);SEL_PRIMARY_EFF=0;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228433217 . A G 255.0 PASS ALTCOUNT=23;DP=34.0;DP4=5,7,9,14;AF1=0.6764706;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T1195|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.12),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T1195|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.12),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T1287|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.13);SEL_PRIMARY_EFF=0;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228434395 . T C 255.0 PASS ALTCOUNT=20;DP=36.0;DP4=8,9,9,11;AF1=0.5555556;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A1308|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.13),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A1308|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.13),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A1400|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.14);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.3924T>C;Mutation_AA_syntax=p.A1308A;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=1.3;Tumour_Site_(cosmic)=stomach;HGVS_Syntax(COSMIC)=c.3924T>Cp.A1308A;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228434467 . T C 255.0 PASS ALTCOUNT=12;DP=25.0;DP4=3,11,5,7;AF1=0.48;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A1332|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.13),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A1332|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.13),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|A1424|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.14);SEL_PRIMARY_EFF=0;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228444565 . T A 114.0 PASS ALTCOUNT=20;DP=20.0;DP4=1,0,4,16;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=Q5VST9,Q5VST9-3;dbnsfpInterpro_domain=Immunoglobulin_subtype_(1),Immunoglobulin_I-set_(1),Immunoglobulin-like_(1),Immunoglobulin-like_fold_(1),;dbnsfpEnsembl_transcriptid=ENST00000284548,ENST00000422127,ENST00000359599;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.6;dbnsfpGERP++_RS=4.6;dbnsfp29way_logOdds=10.5856;dbnsfp1000Gp1_AF=1.0;dbnsfp1000Gp1_AFR_AF=1.0;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=1.0;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gAc|V1508D|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.15),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gAc|V1508D|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.15),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gAc|V1600D|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.16);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.4523T>A;Mutation_AA_syntax=p.V1508D;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=54.76,52.27,60.53;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.4523T>Ap.V1508D;Gene_Description=228566575;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 228461129 . A G 255.0 PASS ALTCOUNT=23;DP=41.0;DP4=12,7,14,9;AF1=0.5609756;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000359599;dbnsfpSIFT_score=0.400000;dbnsfpGERP++_NR=4.52;dbnsfpGERP++_RS=-1.1;dbnsfp29way_logOdds=11.8163;dbnsfp1000Gp1_AF=0.7216117216117216;dbnsfp1000Gp1_AFR_AF=0.8170731707317073;dbnsfp1000Gp1_EUR_AF=0.6596306068601583;dbnsfp1000Gp1_AMR_AF=0.6961325966850829;dbnsfp1000Gp1_ASN_AF=0.7377622377622378;dbnsfpESP5400_AA_AF=0.811187;EFF=INTRON(MODIFIER||||OBSCN|mRNA|CODING|NM_001098623|),INTRON(MODIFIER||||OBSCN|mRNA|CODING|NM_052843|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H2048R|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.21);SEL_PRIMARY_EFF=2;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228480282 . A G 255.0 PASS ALTCOUNT=24;DP=35.0;DP4=11,1,19,5;AF1=0.6857143;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T3554|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.40),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T3554|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.40),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|T3983|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.45);SEL_PRIMARY_EFF=0;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228482028 . G C 255.0 PASS ALTCOUNT=15;DP=38.0;DP4=13,11,11,4;AF1=0.39473686;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctG/ctC|L3769|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.42),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctC|L3769|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.42),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctC|L4198|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.47);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.11307G>C,c.12156G>C,c.11469G>C,c.11859G>C;Mutation_AA_syntax=p.L3769L,p.L4052L,p.L3823L,p.L3953L;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=8.33,10.0,3.23,7.14;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.11307G>Cp.L3769L,c.12156G>Cp.L4052L,c.11469G>Cp.L3823L,c.11859G>Cp.L3953L;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228486404 . C T 255.0 PASS ALTCOUNT=12;DP=19.0;DP4=2,6,1,11;AF1=0.6315789;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000366707;dbnsfpSIFT_score=0.230000;dbnsfpGERP++_NR=4.68;dbnsfpGERP++_RS=-4.67;dbnsfp29way_logOdds=12.6558;dbnsfp1000Gp1_AF=0.17399267399267399;dbnsfp1000Gp1_AFR_AF=0.17479674796747968;dbnsfp1000Gp1_EUR_AF=0.16094986807387862;dbnsfp1000Gp1_AMR_AF=0.23480662983425415;dbnsfp1000Gp1_ASN_AF=0.1520979020979021;dbnsfpESP5400_AA_AF=0.22488;EFF=INTRON(MODIFIER||||OBSCN|mRNA|CODING|NM_001098623|),INTRON(MODIFIER||||OBSCN|mRNA|CODING|NM_052843|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T4399M|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.49);SEL_PRIMARY_EFF=2;Mutation_cds_syntax=c.12071C>T,c.12758C>T,c.12461C>T;Mutation_AA_syntax=p.T4024M,p.T4253M,p.T4154M;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.73,3.03,1.41;Tumour_Site_(cosmic)=breast;HGVS_Syntax(COSMIC)=c.12071C>Tp.T4024M,c.12758C>Tp.T4253M,c.12461C>Tp.T4154M;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228505739 . G A 255.0 PASS ALTCOUNT=10;DP=23.0;DP4=9,5,7,3;AF1=0.4347826;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q5VST9,Q5VST9-3;dbnsfpInterpro_domain=Immunoglobulin_subtype_(1),Immunoglobulin_I-set_(1),Immunoglobulin-like_(1),Immunoglobulin-like_fold_(1),;dbnsfpEnsembl_transcriptid=ENST00000284548,ENST00000422127,ENST00000366707,ENST00000366709;dbnsfpSIFT_score=0.840000;dbnsfpGERP++_NR=4.51;dbnsfpGERP++_RS=-5.37;dbnsfp29way_logOdds=20.2526;dbnsfp1000Gp1_AF=0.17994505494505494;dbnsfp1000Gp1_AFR_AF=0.1910569105691057;dbnsfp1000Gp1_EUR_AF=0.16226912928759896;dbnsfp1000Gp1_AMR_AF=0.24585635359116023;dbnsfp1000Gp1_ASN_AF=0.1520979020979021;dbnsfpESP5400_AA_AF=0.241918;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G4666S|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.53),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G4666S|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.53),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G5623S|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.64);SEL_PRIMARY_EFF=0;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228509427 . A G 255.0 PASS ALTCOUNT=15;DP=22.0;DP4=8,0,10,5;AF1=0.6818182;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q5VST9,Q5VST9-3;dbnsfpInterpro_domain=Immunoglobulin_I-set_(1),Immunoglobulin_subtype_2_(1),Immunoglobulin-like_(1),Immunoglobulin-like_fold_(1),;dbnsfpEnsembl_transcriptid=ENST00000284548,ENST00000422127,ENST00000366707,ENST00000366709;dbnsfpSIFT_score=0.420000;dbnsfpGERP++_NR=5.34;dbnsfpGERP++_RS=1.91;dbnsfp29way_logOdds=4.77;dbnsfp1000Gp1_AF=0.7138278388278388;dbnsfp1000Gp1_AFR_AF=0.8455284552845529;dbnsfp1000Gp1_EUR_AF=0.6701846965699209;dbnsfp1000Gp1_AMR_AF=0.6795580110497238;dbnsfp1000Gp1_ASN_AF=0.6800699300699301;dbnsfpESP5400_AA_AF=0.819847;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D4962G|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.55),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D4962G|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.55),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D5919G|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.66);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.17021A>G,c.14885A>G;Mutation_AA_syntax=p.D5674G,p.D4962G;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.74,1.92;Tumour_Site_(cosmic)=pancreas;HGVS_Syntax(COSMIC)=c.17021A>Gp.D5674G,c.14885A>Gp.D4962G;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228525008 . G A 255.0 PASS ALTCOUNT=13;DP=16.0;DP4=3,1,10,3;AF1=0.8125;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=Q5VST9,Q5VST9-3;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000284548,ENST00000422127,ENST00000366707,ENST00000366709;dbnsfpSIFT_score=0.150000;dbnsfpGERP++_NR=4.37;dbnsfpGERP++_RS=4.37;dbnsfp29way_logOdds=17.4671;dbnsfp1000Gp1_AF=0.09340659340659341;dbnsfp1000Gp1_AFR_AF=0.016260162601626018;dbnsfp1000Gp1_EUR_AF=0.13060686015831136;dbnsfp1000Gp1_AMR_AF=0.17955801104972377;dbnsfp1000Gp1_ASN_AF=0.055944055944055944;dbnsfpESP5400_AA_AF=0.037361;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R5575H|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.66),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R5575H|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.66),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R6532H|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.77);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.18470G>A,c.18860G>A,c.16724G>A;Mutation_AA_syntax=p.R6157H,p.R6287H,p.R5575H;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.56,0.88,1.0;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.18470G>Ap.R6157H,c.18860G>Ap.R6287H,c.16724G>Ap.R5575H;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228547901 . C T 255.0 PASS ALTCOUNT=12;DP=23.0;DP4=7,5,7,5;AF1=0.5217391;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||OBSCN|mRNA|CODING|NM_001098623|),INTRON(MODIFIER||||OBSCN|mRNA|CODING|NM_001271223|),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D6436|OBSCN|mRNA|CODING|NM_052843|NM_052843.ex.81);SEL_PRIMARY_EFF=2;Mutation_cds_syntax=c.19308C>T;Mutation_AA_syntax=p.D6436D;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=1.82;Tumour_Site_(cosmic)=breast;HGVS_Syntax(COSMIC)=c.19308C>Tp.D6436D;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 228559430 . G A 255.0 PASS ALTCOUNT=14;DP=24.0;DP4=6,4,7,8;AF1=0.5833333;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q5VST9;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000422127,ENST00000366707;dbnsfpSIFT_score=0.610000;dbnsfpGERP++_NR=4.69;dbnsfpGERP++_RS=-3.53;dbnsfp29way_logOdds=2.4418;dbnsfp1000Gp1_AF=0.016025641025641024;dbnsfp1000Gp1_AFR_AF=0.0020325203252032522;dbnsfp1000Gp1_EUR_AF=0.0316622691292876;dbnsfp1000Gp1_AMR_AF=0.022099447513812154;dbnsfp1000Gp1_ASN_AF=0.0034965034965034965;dbnsfpESP5400_AA_AF=0.005096;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R6984Q|OBSCN|mRNA|CODING|NM_001098623|NM_001098623.ex.94),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R7941Q|OBSCN|mRNA|CODING|NM_001271223|NM_001271223.ex.105);SEL_PRIMARY_EFF=0;Gene_Description=228566575;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 229568632 rs11803533 A G 114.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,0,11;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ACTA1|mRNA|CODING|NM_001100|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2740(G);HGVS=(NC_000001.10:g.229568632A>G,NM_001100.3:c.130-5T>C,);Mutation_cds_syntax=c.130-5T>C;Mutation_AA_syntax=p.?;Mutation_Description(COSMIC)=Unknown;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.130-5T>Cp.?;Gene_Description=229569843;OMIM_ID=OMIM:102610;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 229568637 rs41271481 C G 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,2,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ACTA1|mRNA|CODING|NM_001100|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Conflicting//\@interpretations//\@of//\@pathogenicity;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2119(G);HGVS=(NC_000001.10:g.229568637C>G,NM_001100.3:c.130-10G>C,);Mutation_cds_syntax=c.130-10G>C;Mutation_AA_syntax=p.?;Mutation_Description(COSMIC)=Unknown;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.130-10G>Cp.?;Gene_Description=229569843;OMIM_ID=OMIM:102610;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 230845794 rs699 A G 255.0 PASS ALTCOUNT=16;DP=25.0;DP4=5,5,10,6;AF1=0.64;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=B0ZBE2,B2R5S1,P01019;dbnsfpInterpro_domain=Serpin_domain_(3),;dbnsfpEnsembl_transcriptid=ENST00000366667,ENST00000430091;dbnsfpSIFT_score=0.680000;dbnsfpGERP++_NR=5.1;dbnsfpGERP++_RS=-0.372;dbnsfp29way_logOdds=5.2545;dbnsfp1000Gp1_AF=0.6620879120879121;dbnsfp1000Gp1_AFR_AF=0.8678861788617886;dbnsfp1000Gp1_EUR_AF=0.40897097625329815;dbnsfp1000Gp1_AMR_AF=0.6353591160220995;dbnsfp1000Gp1_ASN_AF=0.8374125874125874;dbnsfpESP5400_AA_AF=0.821562;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M268T|AGT|mRNA|CODING|NM_000029|NM_000029.ex.2);SEL_PRIMARY_EFF=0;PUBMED_CITATIONS=1;CLINICAL_SIGNIFICANCE=risk//\@factor;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2949(A);HGVS=(NC_000001.10:g.230845794A>G,NM_000029.3:c.803T>C,NP_000020.1:p.Met268Thr);Mutation_cds_syntax=c.803T>C;Mutation_AA_syntax=p.M268T;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=2.27,4.0,5.0;Tumour_Site_(cosmic)=large_intestine,breast,skin;HGVS_Syntax(COSMIC)=c.803T>Cp.M268T;Gene_Description=230850336;OMIM_ID=OMIM:106150;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 235564924 . G T 255.0 PASS ALTCOUNT=18;DP=32.0;DP4=4,11,6,12;AF1=0.5625;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||TBCE|mRNA|CODING|NM_001079515|),INTRON(MODIFIER||||TBCE|mRNA|CODING|NM_001287801|),INTRON(MODIFIER||||TBCE|mRNA|CODING|NM_001287802|),INTRON(MODIFIER||||TBCE|mRNA|CODING|NM_003193|);SEL_PRIMARY_EFF=0;Gene_Description=235612283;OMIM_ID=OMIM:604934;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 235940450 . C T 255.0 PASS ALTCOUNT=19;DP=34.0;DP4=7,9,9,10;AF1=0.5588235;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K1791|LYST|mRNA|CODING|NM_000081|NM_000081.ex.17),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K1791|LYST|mRNA|CODING|NM_001301365|NM_001301365.ex.17);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.5373G>A;Mutation_AA_syntax=p.K1791K;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=0.65;Tumour_Site_(cosmic)=liver;HGVS_Syntax(COSMIC)=c.5373G>Ap.K1791K;Gene_Description=236047008;OMIM_ID=OMIM:606897;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 235955150 . G A 255.0 PASS ALTCOUNT=14;DP=21.0;DP4=4,4,4,10;AF1=0.6666667;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N1464|LYST|mRNA|CODING|NM_000081|NM_000081.ex.12),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N1464|LYST|mRNA|CODING|NM_001301365|NM_001301365.ex.12);SEL_PRIMARY_EFF=0;Gene_Description=236047008;OMIM_ID=OMIM:606897;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 235972435 . T C 255.0 PASS ALTCOUNT=12;DP=32.0;DP4=13,8,8,4;AF1=0.375;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L561|LYST|mRNA|CODING|NM_000081|NM_000081.ex.5),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L561|LYST|mRNA|CODING|NM_001301365|NM_001301365.ex.5);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1683A>G;Mutation_AA_syntax=p.L561L;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=0.65;Tumour_Site_(cosmic)=liver;HGVS_Syntax(COSMIC)=c.1683A>Gp.L561L;Gene_Description=236047008;OMIM_ID=OMIM:606897;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 235972867 . T C 255.0 PASS ALTCOUNT=15;DP=32.0;DP4=10,8,6,9;AF1=0.46875;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q417|LYST|mRNA|CODING|NM_000081|NM_000081.ex.5),SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q417|LYST|mRNA|CODING|NM_001301365|NM_001301365.ex.5);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1251A>G;Mutation_AA_syntax=p.Q417Q;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=0.65;Tumour_Site_(cosmic)=liver;HGVS_Syntax(COSMIC)=c.1251A>Gp.Q417Q;Gene_Description=236047008;OMIM_ID=OMIM:606897;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 236557771 . G A 117.0 PASS ALTCOUNT=20;DP=20.0;DP4=1,0,7,13;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8WWZ3;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000334232;dbnsfpSIFT_score=0.330000;dbnsfpGERP++_NR=4.52;dbnsfpGERP++_RS=1.33;dbnsfp29way_logOdds=3.1466;dbnsfp1000Gp1_AF=0.7683150183150184;dbnsfp1000Gp1_AFR_AF=0.45934959349593496;dbnsfp1000Gp1_EUR_AF=0.8100263852242744;dbnsfp1000Gp1_AMR_AF=0.8397790055248618;dbnsfp1000Gp1_ASN_AF=0.9335664335664335;dbnsfpESP5400_AA_AF=0.547352;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M9I|EDARADD|mRNA|CODING|NM_145861|NM_145861.ex.1),UPSTREAM(MODIFIER||||EDARADD|mRNA|CODING|NM_080738|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.27G>A;Mutation_AA_syntax=p.M9I;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=1.25;Tumour_Site_(cosmic)=liver;HGVS_Syntax(COSMIC)=c.27G>Ap.M9I;Gene_Description=236648008;OMIM_ID=OMIM:606603;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 236645609 . C T 255.0 PASS ALTCOUNT=10;DP=23.0;DP4=8,6,6,4;AF1=0.4347826;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=A8K7B5,Q8WWZ3;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000439430,ENST00000334232,ENST00000359362;dbnsfpSIFT_score=0.020000;dbnsfpGERP++_NR=5.22;dbnsfpGERP++_RS=5.22;dbnsfp29way_logOdds=14.5705;dbnsfp1000Gp1_AF=0.019688644688644688;dbnsfp1000Gp1_AFR_AF=0.0020325203252032522;dbnsfp1000Gp1_EUR_AF=0.04221635883905013;dbnsfp1000Gp1_AMR_AF=0.027624309392265192;dbnsfp1000Gp1_ASN_AF=0.0;dbnsfpESP5400_AA_AF=0.004013;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S103F|EDARADD|mRNA|CODING|NM_145861|NM_145861.ex.6),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S93F|EDARADD|mRNA|CODING|NM_080738|NM_080738.ex.6);SEL_PRIMARY_EFF=0;Gene_Description=236648008;OMIM_ID=OMIM:606603;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 236882303 rs1341864 T C 117.0 PASS ALTCOUNT=25;DP=25.0;DP4=1,0,11,14;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|atT/atC|I117|ACTN2|mRNA|CODING|NM_001103|NM_001103.ex.3),SYNONYMOUS_CODING(LOW|SILENT|atT/atC|I117|ACTN2|mRNA|CODING|NM_001278343|NM_001278343.ex.3),UTR_5_PRIME(MODIFIER||||ACTN2|mRNA|CODING|NM_001278344|NM_001278344.ex.3);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0074(T);HGVS=(NC_000001.10:g.236882303T>C,NM_001103.3:c.351C//\&,p.Ile117Ile),(,,),(,,);Gene_Description=236927927;OMIM_ID=OMIM:102573;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 236883421 rs1341863 C T 117.0 PASS ALTCOUNT=21;DP=21.0;DP4=1,0,12,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N126|ACTN2|mRNA|CODING|NM_001103|NM_001103.ex.4),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N126|ACTN2|mRNA|CODING|NM_001278343|NM_001278343.ex.4),UTR_5_PRIME(MODIFIER||||ACTN2|mRNA|CODING|NM_001278344|NM_001278344.ex.4);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0793(C);HGVS=(NC_000001.10:g.236883421C>T,NM_001103.3:c.378T//\&,p.Asn126Asn),(,,),(,,);Gene_Description=236927927;OMIM_ID=OMIM:102573;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 236899899 . TC T 255.0 Pass ALTCOUNT=024;DP=26;DP4=1,0,12,12;STDP4=26,0,24,0;AF1=0.9230769;;MQ=32;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=FRAME_SHIFT(HIGH||||ACTN2|mRNA|CODING|NM_001278344|NM_001278344.ex.10),INTRON(MODIFIER||||ACTN2|mRNA|CODING|NM_001103|),INTRON(MODIFIER||||ACTN2|mRNA|CODING|NM_001278343|);SEL_PRIMARY_EFF=0;Gene_Description=236927927;OMIM_ID=OMIM:102573;pValue=1.0E-255;Zygosity=HOM;Category=Category//@I-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,3,3:10 chr1 236900018 . G A 117.0 PASS ALTCOUNT=18;DP=19.0;DP4=1,0,6,13;AF1=0.94736844;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ACTN2|mRNA|CODING|NM_001103|),INTRON(MODIFIER||||ACTN2|mRNA|CODING|NM_001278343|),INTRON(MODIFIER||||ACTN2|mRNA|CODING|NM_001278344|);SEL_PRIMARY_EFF=0;Gene_Description=236927927;OMIM_ID=OMIM:102573;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:70,2,0:10 chr1 236924506 . A G 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,5,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ACTN2|mRNA|CODING|NM_001103|),INTRON(MODIFIER||||ACTN2|mRNA|CODING|NM_001278343|),INTRON(MODIFIER||||ACTN2|mRNA|CODING|NM_001278344|);SEL_PRIMARY_EFF=0;Gene_Description=236927927;OMIM_ID=OMIM:102573;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 236978992 . T TTCTG 255.0 Pass ALTCOUNT=018;DP=18;DP4=5,12,5,16;STDP4=18,0,18,0;AF1=1.0;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||MTR|mRNA|CODING|NM_000254|),INTRON(MODIFIER||||MTR|mRNA|CODING|NM_001291939|),INTRON(MODIFIER||||MTR|mRNA|CODING|NM_001291940|);SEL_PRIMARY_EFF=0;Gene_Description=237067281;OMIM_ID=OMIM:156570;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 236988593 . A AT 255.0 Pass ALTCOUNT=013;DP=13;DP4=12,0,11,2;STDP4=13,0,13,0;AF1=1.0;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||MTR|mRNA|CODING|NM_000254|),INTRON(MODIFIER||||MTR|mRNA|CODING|NM_001291939|),INTRON(MODIFIER||||MTR|mRNA|CODING|NM_001291940|);SEL_PRIMARY_EFF=0;Gene_Description=237067281;OMIM_ID=OMIM:156570;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237001926 . A G 114.0 PASS ALTCOUNT=25;DP=25.0;DP4=1,0,4,21;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||MTR|mRNA|CODING|NM_000254|),INTRON(MODIFIER||||MTR|mRNA|CODING|NM_001291939|),INTRON(MODIFIER||||MTR|mRNA|CODING|NM_001291940|);SEL_PRIMARY_EFF=0;Gene_Description=237067281;OMIM_ID=OMIM:156570;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237054569 rs2229276 A G 117.0 PASS ALTCOUNT=23;DP=23.0;DP4=1,0,11,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|A1048|MTR|mRNA|CODING|NM_000254|NM_000254.ex.29),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|A641|MTR|mRNA|CODING|NM_001291940|NM_001291940.ex.28),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|A997|MTR|mRNA|CODING|NM_001291939|NM_001291939.ex.28);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3233(G);HGVS=(NC_000001.10:g.237054569A>G,NM_000254.2:c.3144A>G,p.A1048A:GCA>GCG),(,,),(,,);Mutation_cds_syntax=c.3144A>G;Mutation_AA_syntax=p.A1048A;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=1.96;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.3144A>Gp.A1048A;Gene_Description=237067281;OMIM_ID=OMIM:156570;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237058744 rs12070777 C A 117.0 PASS ALTCOUNT=22;DP=22.0;DP4=1,0,9,13;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|cgC/cgA|R1113|MTR|mRNA|CODING|NM_001291939|NM_001291939.ex.30),SYNONYMOUS_CODING(LOW|SILENT|cgC/cgA|R1164|MTR|mRNA|CODING|NM_000254|NM_000254.ex.31),SYNONYMOUS_CODING(LOW|SILENT|cgC/cgA|R757|MTR|mRNA|CODING|NM_001291940|NM_001291940.ex.30);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3215(A);HGVS=(,,),(NC_000001.10:g.237058744C>A,NM_000254.2:c.3492C>A,p.R1164R:CGC>CGA),(,,);Mutation_cds_syntax=c.3492C>A;Mutation_AA_syntax=p.R1164R;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=1.96;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.3492C>Ap.R1164R;Gene_Description=237067281;OMIM_ID=OMIM:156570;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237058828 rs1131449 C T 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,2,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L1141|MTR|mRNA|CODING|NM_001291939|NM_001291939.ex.30),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L1192|MTR|mRNA|CODING|NM_000254|NM_000254.ex.31),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L785|MTR|mRNA|CODING|NM_001291940|NM_001291940.ex.30);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4708(C);HGVS=(,,),(NC_000001.10:g.237058828C>T,NM_000254.2:c.3576C>T,p.L1192L:CTC>CTT),(,,);Mutation_cds_syntax=c.3576C>T;Mutation_AA_syntax=p.L1192L;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=4.35,25.0;Tumour_Site_(cosmic)=breast,urinary_tract;HGVS_Syntax(COSMIC)=c.3576C>Tp.L1192L;Gene_Description=237067281;OMIM_ID=OMIM:156570;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237060433 rs3820571 G T 117.0 PASS ALTCOUNT=18;DP=18.0;DP4=1,0,9,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||MTR|mRNA|CODING|NM_000254|),INTRON(MODIFIER||||MTR|mRNA|CODING|NM_001291939|),INTRON(MODIFIER||||MTR|mRNA|CODING|NM_001291940|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2476(G);HGVS=(NC_000001.10:g.237060433G>T,NM_000254.2:c.3711+15G>T,),(,,),(,,);Gene_Description=237067281;OMIM_ID=OMIM:156570;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237551376 rs10754602 T A 117.0 PASS ALTCOUNT=28;DP=28.0;DP4=1,0,18,10;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4435(T);HGVS=(NC_000001.10:g.237551376T>A,NM_001035.2:c.677-11T>A,);Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237617757 rs3765097 C T 255.0 PASS ALTCOUNT=12;DP=25.0;DP4=7,7,7,5;AF1=0.48;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S453|RYR2|mRNA|CODING|NM_001035|NM_001035.ex.15);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4643(C);HGVS=(NC_000001.10:g.237617757C>T,NM_001035.2:c.1359C>T,p.Ser453Ser);Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 237619875 . AT A 255.0 Pass ALTCOUNT=011;DP=28;DP4=15,1,17,3;STDP4=28,0,11,0;AF1=0.39285713;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|);SEL_PRIMARY_EFF=0;Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,12,41:10 chr1 237730124 . A G 114.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,2,8;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|);SEL_PRIMARY_EFF=0;Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237753074 . AT A 255.0 Pass ALTCOUNT=012;DP=25;DP4=11,1,8,4;STDP4=25,0,12,0;AF1=0.48;;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|);SEL_PRIMARY_EFF=0;Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,12,32:10 chr1 237801770 rs707189 T C 117.0 PASS ALTCOUNT=44;DP=44.0;DP4=1,0,21,23;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctT/ctC|L2302|RYR2|mRNA|CODING|NM_001035|NM_001035.ex.45);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0451(T);HGVS=(NC_000001.10:g.237801770T>C,NM_001035.2:c.6906T>C,p.Leu2302Leu);Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237865203 . C T 114.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,10,1;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|);SEL_PRIMARY_EFF=0;Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237872714 . GT G 255.0 Pass ALTCOUNT=015;DP=18;DP4=2,0,11,4;STDP4=18,0,15,0;AF1=0.8333333;;MQ=35;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|);SEL_PRIMARY_EFF=0;Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,6,8:10 chr1 237890437 rs2685301 C T 114.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,9,1;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S3592|RYR2|mRNA|CODING|NM_001035|NM_001035.ex.76);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0397(C);HGVS=(NC_000001.10:g.237890437C>T,NM_001035.2:c.10776C>T,p.Ser3592Ser);Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237893674 rs2797445 C T 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,5,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0148(C);HGVS=(NC_000001.10:g.237893674C>T,NM_001035.2:c.10935+18C>T,);Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 237957146 . G A 255.0 PASS ALTCOUNT=12;DP=18.0;DP4=7,0,9,3;AF1=0.6666667;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|);SEL_PRIMARY_EFF=0;Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 237957161 rs790901 A G 255.0 PASS ALTCOUNT=20;DP=26.0;DP4=4,3,16,4;AF1=0.7692308;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2424(A);HGVS=(NC_000001.10:g.237957161A>G,NM_001035.2:c.13783-6A>G,);Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 237957309 rs790900 A C 255.0 PASS ALTCOUNT=14;DP=20.0;DP4=3,4,3,11;AF1=0.7;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RYR2|mRNA|CODING|NM_001035|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2492(A);HGVS=(NC_000001.10:g.237957309A>C,NM_001035.2:c.13913+12A>C,);Gene_Description=237997288;OMIM_ID=OMIM:180902;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 240975213 . T C 255.0 PASS ALTCOUNT=12;DP=22.0;DP4=7,4,8,4;AF1=0.54545456;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||RGS7|mRNA|CODING|NM_001282773|),INTRON(MODIFIER||||RGS7|mRNA|CODING|NM_001282775|),INTRON(MODIFIER||||RGS7|mRNA|CODING|NM_001282778|),INTRON(MODIFIER||||RGS7|mRNA|CODING|NM_002924|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1082+5A>G;Mutation_AA_syntax=p.?;Mutation_Description(COSMIC)=Unknown;Frequency_(cosmic)=16.67,100.0,11.11,20.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,stomach;HGVS_Syntax(COSMIC)=c.1082+5A>Gp.?;Gene_Description=241520530;OMIM_ID=OMIM:602517;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr1 243579112 . G A 117.0 PASS ALTCOUNT=22;DP=22.0;DP4=1,0,6,16;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E575|SDCCAG8|mRNA|CODING|NM_006642|NM_006642.ex.14);SEL_PRIMARY_EFF=0;Gene_Description=243663393;OMIM_ID=OMIM:613524;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr1 243736210 . CT C 255.0 Pass ALTCOUNT=011;DP=19;DP4=6,1,7,4;STDP4=19,0,11,0;AF1=0.57894737;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||AKT3|mRNA|CODING|NM_001206729|),INTRON(MODIFIER||||AKT3|mRNA|CODING|NM_005465|),INTRON(MODIFIER||||AKT3|mRNA|CODING|NM_181690|);SEL_PRIMARY_EFF=0;Gene_Description=244006886;OMIM_ID=OMIM:611223;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,12,24:10 chr1 247587531 rs4925543 A G 117.0 PASS ALTCOUNT=28;DP=28.0;DP4=1,0,13,15;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R260|NLRP3|mRNA|CODING|NM_001243133|NM_001243133.ex.3),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R262|NLRP3|mRNA|CODING|NM_001079821|NM_001079821.ex.5),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R262|NLRP3|mRNA|CODING|NM_001127461|NM_001127461.ex.4),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R262|NLRP3|mRNA|CODING|NM_001127462|NM_001127462.ex.3),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R262|NLRP3|mRNA|CODING|NM_004895|NM_004895.ex.3),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|R262|NLRP3|mRNA|CODING|NM_183395|NM_183395.ex.3);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0801(A);Gene_Description=247612406;OMIM_ID=OMIM:606416;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 1437410 . C T 117.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,0,15;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||TPO|mRNA|CODING|NM_000547|),INTRON(MODIFIER||||TPO|mRNA|CODING|NM_001206744|),INTRON(MODIFIER||||TPO|mRNA|CODING|NM_001206745|),INTRON(MODIFIER||||TPO|mRNA|CODING|NM_175719|),INTRON(MODIFIER||||TPO|mRNA|CODING|NM_175721|),INTRON(MODIFIER||||TPO|mRNA|CODING|NM_175722|);SEL_PRIMARY_EFF=0;Gene_Description=1546499;OMIM_ID=OMIM:606765;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 1926437 . G T 117.0 PASS ALTCOUNT=21;DP=21.0;DP4=1,0,12,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccA|P368|MYT1L|mRNA|CODING|NM_001303052|NM_001303052.ex.10),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccA|P368|MYT1L|mRNA|CODING|NM_015025|NM_015025.ex.10);SEL_PRIMARY_EFF=0;Gene_Description=2335085;OMIM_ID=OMIM:613084;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 3652616 . G C 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,10,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||COLEC11|mRNA|CODING|NM_001255982|),INTRON(MODIFIER||||COLEC11|mRNA|CODING|NM_001255983|),INTRON(MODIFIER||||COLEC11|mRNA|CODING|NM_001255984|),INTRON(MODIFIER||||COLEC11|mRNA|CODING|NM_001255985|),INTRON(MODIFIER||||COLEC11|mRNA|CODING|NM_024027|),INTRON(MODIFIER||||COLEC11|mRNA|CODING|NM_199235|),INTRON(MODIFIER||||COLEC11|mRNA|CODING|NR_045659|),UPSTREAM(MODIFIER||||COLEC11|mRNA|CODING|NM_001255986|),UPSTREAM(MODIFIER||||COLEC11|mRNA|CODING|NM_001255987|),UPSTREAM(MODIFIER||||COLEC11|mRNA|CODING|NM_001255988|),UPSTREAM(MODIFIER||||COLEC11|mRNA|CODING|NM_001255989|);SEL_PRIMARY_EFF=0;Gene_Description=3692234;OMIM_ID=OMIM:612502;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 10188649 . A T 117.0 PASS ALTCOUNT=19;DP=19.0;DP4=1,0,9,10;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtA/gtT|V378|KLF11|mRNA|CODING|NM_001177716|NM_001177716.ex.3),SYNONYMOUS_CODING(LOW|SILENT|gtA/gtT|V378|KLF11|mRNA|CODING|NM_001177718|NM_001177718.ex.3),SYNONYMOUS_CODING(LOW|SILENT|gtA/gtT|V395|KLF11|mRNA|CODING|NM_003597|NM_003597.ex.3);SEL_PRIMARY_EFF=0;Gene_Description=10194963;OMIM_ID=OMIM:603301;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 15523266 . A T 114.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,11,1;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||NBAS|mRNA|CODING|NM_015909|),INTRON(MODIFIER||||NBAS|mRNA|CODING|NR_052013|);SEL_PRIMARY_EFF=0;Gene_Description=15701472;OMIM_ID=OMIM:608025;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 15523307 . TA T 255.0 Pass ALTCOUNT=016;DP=20;DP4=2,1,10,6;STDP4=20,0,16,0;AF1=0.8;;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||NBAS|mRNA|CODING|NM_015909|),INTRON(MODIFIER||||NBAS|mRNA|CODING|NR_052013|);SEL_PRIMARY_EFF=0;Gene_Description=15701472;OMIM_ID=OMIM:608025;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,8,10:10 chr2 15523549 . T C 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,0,16;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||NBAS|mRNA|CODING|NM_015909|),INTRON(MODIFIER||||NBAS|mRNA|CODING|NR_052013|);SEL_PRIMARY_EFF=0;Gene_Description=15701472;OMIM_ID=OMIM:608025;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 15601441 . C T 117.0 PASS ALTCOUNT=20;DP=20.0;DP4=1,0,9,11;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=STOP_GAINED(HIGH|NONSENSE|tGg/tAg|W756*|NBAS|mRNA|CODING|NR_052013|NR_052013.ex.21),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L741|NBAS|mRNA|CODING|NM_015909|NM_015909.ex.21);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2223G>A;Mutation_AA_syntax=p.L741L;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=10.0,0.83;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,large_intestine;HGVS_Syntax(COSMIC)=c.2223G>Ap.L741L;Gene_Description=15701472;OMIM_ID=OMIM:608025;pValue=1.0E-117;Zygosity=HOM;Category=Category//@I-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 15607842 . T C 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,8,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=A2RRP1;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000441750,ENST00000281513;dbnsfpSIFT_score=0.000000;dbnsfpGERP++_NR=5.33;dbnsfpGERP++_RS=-1.26;dbnsfp29way_logOdds=12.0186;dbnsfp1000Gp1_AF=0.4015567765567766;dbnsfp1000Gp1_AFR_AF=0.12398373983739837;dbnsfp1000Gp1_EUR_AF=0.6688654353562006;dbnsfp1000Gp1_AMR_AF=0.569060773480663;dbnsfp1000Gp1_ASN_AF=0.18006993006993008;dbnsfpESP5400_AA_AF=0.226445;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R670G|NBAS|mRNA|CODING|NR_052013|NR_052013.ex.18),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K655R|NBAS|mRNA|CODING|NM_015909|NM_015909.ex.18);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1964A>G;Mutation_AA_syntax=p.K655R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=10.0,7.14,0.83;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,urinary_tract,large_intestine;HGVS_Syntax(COSMIC)=c.1964A>Gp.K655R;Gene_Description=15701472;OMIM_ID=OMIM:608025;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 15614404 . T C 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,4,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E477G|NBAS|mRNA|CODING|NR_052013|NR_052013.ex.15),SYNONYMOUS_CODING(LOW|SILENT|agA/agG|R462|NBAS|mRNA|CODING|NM_015909|NM_015909.ex.15);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1386A>G;Mutation_AA_syntax=p.R462R;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=0.83,10.0;Tumour_Site_(cosmic)=large_intestine,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.1386A>Gp.R462R;Gene_Description=15701472;OMIM_ID=OMIM:608025;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 15615910 . A G 117.0 PASS ALTCOUNT=26;DP=26.0;DP4=1,0,12,14;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L429P|NBAS|mRNA|CODING|NR_052013|NR_052013.ex.14),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|S414|NBAS|mRNA|CODING|NM_015909|NM_015909.ex.14);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1242T>C;Mutation_AA_syntax=p.S414S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=4.17,2.5,20.0,0.83;Tumour_Site_(cosmic)=stomach,breast,haematopoietic_and_lymphoid_tissue,large_intestine;HGVS_Syntax(COSMIC)=c.1242T>Cp.S414S;Gene_Description=15701472;OMIM_ID=OMIM:608025;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 15674686 . T C 117.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,8,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=A2RRP1;dbnsfpInterpro_domain=WD40/YVTN_repeat-like-containing_domain_(1),Quinoprotein_amine_dehydrogenase,_beta_chain-like_(1),;dbnsfpEnsembl_transcriptid=ENST00000441750,ENST00000281513;dbnsfpSIFT_score=0.000000;dbnsfpGERP++_NR=5.82;dbnsfpGERP++_RS=-4.29;dbnsfp29way_logOdds=9.3522;dbnsfp1000Gp1_AF=0.4166666666666667;dbnsfp1000Gp1_AFR_AF=0.18292682926829268;dbnsfp1000Gp1_EUR_AF=0.6675461741424802;dbnsfp1000Gp1_AMR_AF=0.5828729281767956;dbnsfp1000Gp1_ASN_AF=0.18006993006993008;dbnsfpESP5400_AA_AF=0.299893;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I243V|NBAS|mRNA|CODING|NM_015909|NM_015909.ex.9),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|L257|NBAS|mRNA|CODING|NR_052013|NR_052013.ex.9);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.727A>G;Mutation_AA_syntax=p.I243V;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.83,20.0;Tumour_Site_(cosmic)=large_intestine,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.727A>Gp.I243V;Gene_Description=15701472;OMIM_ID=OMIM:608025;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 20131184 rs1191779 C A 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,2,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||WDR35|mRNA|CODING|NM_001006657|),INTRON(MODIFIER||||WDR35|mRNA|CODING|NM_020779|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0351(C);HGVS=(NC_000002.11:g.20131184C>A,NM_001006657.1:c.2857-14G>T,),(,,);Gene_Description=20189884;OMIM_ID=OMIM:613602;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 20729597 . T C 255.0 PASS ALTCOUNT=10;DP=19.0;DP4=6,4,2,8;AF1=0.5263158;MQ=39;IsKnownVariant=0;EFF=INTERGENIC(MODIFIER||||||||);SEL_PRIMARY_EFF;pValue=1.0E-255;Zygosity=HET;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 21224843 . G A 255.0 PASS ALTCOUNT=23;DP=43.0;DP4=10,11,13,10;AF1=0.53488374;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P04114;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000233242;dbnsfpSIFT_score=0.300000;dbnsfpGERP++_NR=5.9;dbnsfpGERP++_RS=2.22;dbnsfp29way_logOdds=6.3395;dbnsfp1000Gp1_AF=0.03296703296703297;dbnsfp1000Gp1_AFR_AF=0.12195121951219512;dbnsfp1000Gp1_EUR_AF=0.005277044854881266;dbnsfp1000Gp1_AMR_AF=0.022099447513812154;dbnsfp1000Gp1_ASN_AF=0.0;dbnsfpESP5400_AA_AF=0.101659;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T4484M|APOB|mRNA|CODING|NM_000384|NM_000384.ex.29);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.13451C>T;Mutation_AA_syntax=p.T4484M;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=1.3;Tumour_Site_(cosmic)=pancreas;HGVS_Syntax(COSMIC)=c.13451C>Tp.T4484M;Gene_Description=21266945;OMIM_ID=OMIM:107730;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 21225281 rs1042034 C T 117.0 PASS ALTCOUNT=18;DP=18.0;DP4=1,0,9,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P04114;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000233242,ENST00000535079;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.41;dbnsfpGERP++_RS=1.61;dbnsfp29way_logOdds=5.789;dbnsfp1000Gp1_AF=0.6620879120879121;dbnsfp1000Gp1_AFR_AF=0.8434959349593496;dbnsfp1000Gp1_EUR_AF=0.7678100263852242;dbnsfp1000Gp1_AMR_AF=0.7817679558011049;dbnsfp1000Gp1_ASN_AF=0.2902097902097902;dbnsfpESP5400_AA_AF=0.844152;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S4338N|APOB|mRNA|CODING|NM_000384|NM_000384.ex.29);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Likely//\@benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3704(C);HGVS=(NC_000002.11:g.21225281C>T,NM_000384.2:c.13013G>A,NP_000375.2:p.Ser4338Asn);Mutation_cds_syntax=c.13013G>A;Mutation_AA_syntax=p.S4338N;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=22.22,1.3;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,pancreas;HGVS_Syntax(COSMIC)=c.13013G>Ap.S4338N;GWASCAT=HDL_cholesterol,Triglycerides;Gene_Description=21266945;OMIM_ID=OMIM:107730;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 21225485 . C G 255.0 PASS ALTCOUNT=24;DP=34.0;DP4=5,6,13,11;AF1=0.7058824;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P04114;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000233242,ENST00000535079;dbnsfpSIFT_score=0.110000;dbnsfpGERP++_NR=5.3;dbnsfpGERP++_RS=-1.27;dbnsfp29way_logOdds=6.6764;dbnsfp1000Gp1_AF=0.061813186813186816;dbnsfp1000Gp1_AFR_AF=0.10569105691056911;dbnsfp1000Gp1_EUR_AF=0.027704485488126648;dbnsfp1000Gp1_AMR_AF=0.1132596685082873;dbnsfp1000Gp1_ASN_AF=0.03671328671328671;dbnsfpESP5400_AA_AF=0.101659;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aCg|R4270T|APOB|mRNA|CODING|NM_000384|NM_000384.ex.29);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.12809G>C;Mutation_AA_syntax=p.R4270T;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=16.67;Tumour_Site_(cosmic)=soft_tissue;HGVS_Syntax(COSMIC)=c.12809G>Cp.R4270T;Gene_Description=21266945;OMIM_ID=OMIM:107730;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 21227383 . C G 255.0 PASS ALTCOUNT=15;DP=17.0;DP4=2,1,4,11;AF1=0.88235295;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||APOB|mRNA|CODING|NM_000384|);SEL_PRIMARY_EFF=0;Gene_Description=21266945;OMIM_ID=OMIM:107730;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 21232803 . T C 111.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,7,5;AF1=1.0;MQ=37;IsKnownVariant=0;dbnsfpUniprot_acc=P04114;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000233242,ENST00000535079;dbnsfpSIFT_score=0.570000;dbnsfpGERP++_NR=5.76;dbnsfpGERP++_RS=-3.8;dbnsfp29way_logOdds=5.845;dbnsfp1000Gp1_AF=0.9720695970695971;dbnsfp1000Gp1_AFR_AF=0.943089430894309;dbnsfp1000Gp1_EUR_AF=0.9683377308707124;dbnsfp1000Gp1_AMR_AF=0.9751381215469613;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.946228;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I2313V|APOB|mRNA|CODING|NM_000384|NM_000384.ex.26);SEL_PRIMARY_EFF=0;Gene_Description=21266945;OMIM_ID=OMIM:107730;pValue=1.0E-111;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 21235475 . T C 117.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,3,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P04114;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000233242,ENST00000535079;dbnsfpSIFT_score=0.460000;dbnsfpGERP++_NR=5.88;dbnsfpGERP++_RS=1.93;dbnsfp29way_logOdds=4.8095;dbnsfp1000Gp1_AF=1.0;dbnsfp1000Gp1_AFR_AF=1.0;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=1.0;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.999464;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y1422C|APOB|mRNA|CODING|NM_000384|NM_000384.ex.26);SEL_PRIMARY_EFF=0;Gene_Description=21266945;OMIM_ID=OMIM:107730;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 26455127 rs11552518 G A 255.0 PASS ALTCOUNT=12;DP=25.0;DP4=8,6,4,8;AF1=0.48;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y158|HADHA|mRNA|CODING|NM_000182|NM_000182.ex.6);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1424(A);HGVS=(NC_000002.11:g.26455127G>A,NM_000182.4:c.474C>T,p.Y158Y:TAC>TAT);Mutation_cds_syntax=c.213C>T,c.474C>T;Mutation_AA_syntax=p.Y71Y,p.Y158Y;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0,28.57,100.0,25.0,5.26;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,large_intestine,thyroid;HGVS_Syntax(COSMIC)=c.213C>Tp.Y71Y,c.474C>Tp.Y158Y;Gene_Description=26467594;OMIM_ID=OMIM:600890;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 26477125 . G GCTT 255.0 Pass ALTCOUNT=024;DP=24;DP4=14,9,16,10;STDP4=24,0,24,0;AF1=1.0;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=CODON_INSERTION(MODERATE||-/CTT|-2L|HADHB|mRNA|CODING|NM_000183|NM_000183.ex.2),CODON_INSERTION(MODERATE||-/CTT|-2L|HADHB|mRNA|CODING|NM_001281512|NM_001281512.ex.2),UTR_5_PRIME(MODIFIER||||HADHB|mRNA|CODING|NM_001281513|NM_001281513.ex.2);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.3_4insACT;Mutation_AA_syntax=p.T2_I3insT;Mutation_Description(COSMIC)=Insertion_In//\@frame;Frequency_(cosmic)=95.0;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.3_4insACTp.T2_I3insT;Gene_Description=26513333;OMIM_ID=OMIM:143450;pValue=1.0E-255;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 26502875 . T C 255.0 PASS ALTCOUNT=13;DP=23.0;DP4=7,4,8,5;AF1=0.5652174;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtT/gtC|V253|HADHB|mRNA|CODING|NM_001281513|NM_001281513.ex.11),SYNONYMOUS_CODING(LOW|SILENT|gtT/gtC|V260|HADHB|mRNA|CODING|NM_001281512|NM_001281512.ex.9),SYNONYMOUS_CODING(LOW|SILENT|gtT/gtC|V275|HADHB|mRNA|CODING|NM_000183|NM_000183.ex.10);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.759T>C,c.825T>C;Mutation_AA_syntax=p.V253V,p.V275V;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0,1.79;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,large_intestine;HGVS_Syntax(COSMIC)=c.759T>Cp.V253V,c.825T>Cp.V275V;Gene_Description=26513333;OMIM_ID=OMIM:143450;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 26505858 rs17528590 A G 255.0 PASS ALTCOUNT=18;DP=29.0;DP4=6,6,10,8;AF1=0.62068963;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||HADHB|mRNA|CODING|NM_000183|),INTRON(MODIFIER||||HADHB|mRNA|CODING|NM_001281512|),INTRON(MODIFIER||||HADHB|mRNA|CODING|NM_001281513|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1450(G);HGVS=(NC_000002.11:g.26505858A>G,NM_000183.2:c.1014-14A>G,),(,,),(,,);Gene_Description=26513333;OMIM_ID=OMIM:143450;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 27535311 . T TG 255.0 Pass ALTCOUNT=016;DP=19;DP4=11,7,8,8;STDP4=19,0,16,0;AF1=0.84210527;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||MPV17|mRNA|CODING|NM_002437|),UPSTREAM(MODIFIER||||UCN|mRNA|CODING|NM_003353|);SEL_PRIMARY_EFF=0;Gene_Description=27545969;OMIM_ID=OMIM:137960;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,6,7:10 chr2 27589810 rs2280737 T C 255.0 PASS ALTCOUNT=10;DP=14.0;DP4=2,3,2,8;AF1=0.71428573;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||EIF2B4|mRNA|CODING|NM_001034116|),INTRON(MODIFIER||||EIF2B4|mRNA|CODING|NM_015636|),INTRON(MODIFIER||||EIF2B4|mRNA|CODING|NM_172195|),UPSTREAM(MODIFIER||||SNX17|mRNA|CODING|NM_001267059|),UPSTREAM(MODIFIER||||SNX17|mRNA|CODING|NM_001267060|),UPSTREAM(MODIFIER||||SNX17|mRNA|CODING|NM_001267061|),UPSTREAM(MODIFIER||||SNX17|mRNA|CODING|NM_014748|),UPSTREAM(MODIFIER||||SNX17|mRNA|CODING|NR_049782|),UPSTREAM(MODIFIER||||SNX17|mRNA|CODING|NR_049783|),UPSTREAM(MODIFIER||||SNX17|mRNA|CODING|NR_049784|),UPSTREAM(MODIFIER||||SNX17|mRNA|CODING|NR_049785|),UPSTREAM(MODIFIER||||SNX17|mRNA|CODING|NR_049786|),UPSTREAM(MODIFIER||||SNX17|mRNA|CODING|NR_049787|),UPSTREAM(MODIFIER||||SNX17|mRNA|CODING|NR_049788|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3834(C);HGVS=(,,),(NC_000002.11:g.27589810T>C,NM_015636.3:c.1011-7A>G,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,);Gene_Description=27593324;OMIM_ID=OMIM:606687;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 29295016 rs10200693 A G 255.0 PASS ALTCOUNT=16;DP=29.0;DP4=8,6,12,4;AF1=0.55172414;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N704|C2orf71|mRNA|CODING|NM_001029883|NM_001029883.ex.1);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3339(G);HGVS=(NC_000002.11:g.29295016A>G,NM_001029883.2:c.2112T>C,NP_001025054.1:p.Asn704//\&);Mutation_cds_syntax=c.2112T>C;Mutation_AA_syntax=p.N704N;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=33.33;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.2112T>Cp.N704N;Gene_Description=29297127;OMIM_ID=OMIM:613425;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 29295676 . G A 255.0 PASS ALTCOUNT=17;DP=29.0;DP4=11,2,10,7;AF1=0.5862069;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S484|C2orf71|mRNA|CODING|NM_001029883|NM_001029883.ex.1);SEL_PRIMARY_EFF=0;Gene_Description=29297127;OMIM_ID=OMIM:613425;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 29416366 rs1881421 G C 114.0 PASS ALTCOUNT=18;DP=18.0;DP4=1,0,10,8;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=Q9UM73;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000389048,ENST00000431873;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.11;dbnsfpGERP++_RS=-3.42;dbnsfp29way_logOdds=11.8015;dbnsfp1000Gp1_AF=0.5654761904761905;dbnsfp1000Gp1_AFR_AF=0.6646341463414634;dbnsfp1000Gp1_EUR_AF=0.39841688654353563;dbnsfp1000Gp1_AMR_AF=0.5276243093922652;dbnsfp1000Gp1_ASN_AF=0.7255244755244755;dbnsfpESP5400_AA_AF=0.611289;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D1529E|ALK|mRNA|CODING|NM_004304|NM_004304.ex.29);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=not//\@provided;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4271(G);HGVS=(NC_000002.11:g.29416366G>C,NM_004304.4:c.4587C>G,LRG_488p1:p.Asp1529Glu);Mutation_cds_syntax=c.4587C>G;Mutation_AA_syntax=p.D1529E;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.3;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.4587C>Gp.D1529E;Gene_Description=30144477;OMIM_ID=OMIM:105590;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 29416572 rs1670283 T C 114.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,7,6;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=Q9UM73;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000389048,ENST00000431873;dbnsfpSIFT_score;dbnsfpGERP++_NR=5.64;dbnsfpGERP++_RS=-0.134;dbnsfp29way_logOdds=8.3864;dbnsfp1000Gp1_AF=0.9931318681318682;dbnsfp1000Gp1_AFR_AF=0.9695121951219512;dbnsfp1000Gp1_EUR_AF=1.0;dbnsfp1000Gp1_AMR_AF=1.0;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.969235;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I1461V|ALK|mRNA|CODING|NM_004304|NM_004304.ex.29);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=not//\@provided;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0078(T);HGVS=(NC_000002.11:g.29416572T>C,NM_004304.4:c.4381A>G,LRG_488p1:p.Ile1461Val);Gene_Description=30144477;OMIM_ID=OMIM:105590;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 29449819 . C T 255.0 PASS ALTCOUNT=16;DP=29.0;DP4=8,6,12,4;AF1=0.55172414;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T1012|ALK|mRNA|CODING|NM_004304|NM_004304.ex.18);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.3036G>A;Mutation_AA_syntax=p.T1012T;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=1.01,22.73,0.13;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,soft_tissue,stomach;HGVS_Syntax(COSMIC)=c.3036G>Ap.T1012T;Gene_Description=30144477;OMIM_ID=OMIM:105590;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 29455267 . A G 255.0 PASS ALTCOUNT=16;DP=25.0;DP4=6,4,8,8;AF1=0.64;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|G845|ALK|mRNA|CODING|NM_004304|NM_004304.ex.15);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.2535T>C;Mutation_AA_syntax=p.G845G;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0,0.13,86.36;Tumour_Site_(cosmic)=bone,stomach,soft_tissue;HGVS_Syntax(COSMIC)=c.2535T>Cp.G845G;Gene_Description=30144477;OMIM_ID=OMIM:105590;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 29498063 rs116202066 G A 255.0 PASS ALTCOUNT=21;DP=42.0;DP4=13,9,14,7;AF1=0.5;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q9UM73;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000389048;dbnsfpSIFT_score;dbnsfpGERP++_NR=5.21;dbnsfpGERP++_RS=3.15;dbnsfp29way_logOdds=11.1501;dbnsfp1000Gp1_AF=0.0027472527472527475;dbnsfp1000Gp1_AFR_AF=0.012195121951219513;dbnsfp1000Gp1_EUR_AF=0.0;dbnsfp1000Gp1_AMR_AF=0.0;dbnsfp1000Gp1_ASN_AF=0.0;dbnsfpESP5400_AA_AF=0.008293;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T648I|ALK|mRNA|CODING|NM_004304|NM_004304.ex.11);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=not//\@provided;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0032(A);HGVS=(NC_000002.11:g.29498063G>A,NM_004304.4:c.1943C>T,LRG_488p1:p.Thr648Ile);Gene_Description=30144477;OMIM_ID=OMIM:105590;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 29498210 . A G 114.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,5,6;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ALK|mRNA|CODING|NM_004304|);SEL_PRIMARY_EFF=0;Gene_Description=30144477;OMIM_ID=OMIM:105590;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 31570376 rs1366813 T C 117.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,12,3;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||XDH|mRNA|CODING|NM_000379|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Likely//\@pathogenic;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2226(T);HGVS=(NC_000002.11:g.31570376T>C,NM_000379.3:c.3276+12A>G,);Gene_Description=31637611;OMIM_ID=OMIM:607633;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 31570626 . C T 114.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,1,13;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||XDH|mRNA|CODING|NM_000379|);SEL_PRIMARY_EFF=0;Gene_Description=31637611;OMIM_ID=OMIM:607633;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 31570631 . A G 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,1,10;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||XDH|mRNA|CODING|NM_000379|);SEL_PRIMARY_EFF=0;Gene_Description=31637611;OMIM_ID=OMIM:607633;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 31571241 . G C 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,4,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||XDH|mRNA|CODING|NM_000379|);SEL_PRIMARY_EFF=0;Gene_Description=31637611;OMIM_ID=OMIM:607633;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 31571786 . A G 114.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,3,7;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttT/ttC|F1010|XDH|mRNA|CODING|NM_000379|NM_000379.ex.27);SEL_PRIMARY_EFF=0;Gene_Description=31637611;OMIM_ID=OMIM:607633;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 31609448 . A C 117.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,5,10;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||XDH|mRNA|CODING|NM_000379|);SEL_PRIMARY_EFF=0;Gene_Description=31637611;OMIM_ID=OMIM:607633;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 31805880 . A AG 255.0 Pass ALTCOUNT=012;DP=15;DP4=7,7,7,5;STDP4=15,0,12,0;AF1=0.8;;MQ=39;IsKnownVariant=0;EFF=FRAME_SHIFT(HIGH||||SRD5A2|mRNA|CODING|NM_000348|NM_000348.ex.1);SEL_PRIMARY_EFF=0;Gene_Description=31806040;OMIM_ID=OMIM:607306;pValue=1.0E-255;Zygosity=HOM;Category=Category//@I-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,8,10:10 chr2 32369901 . T C 117.0 PASS ALTCOUNT=16;DP=16.0;DP4=1,0,14,2;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||SPAST|mRNA|CODING|NM_014946|),INTRON(MODIFIER||||SPAST|mRNA|CODING|NM_199436|);SEL_PRIMARY_EFF=0;Gene_Description=32382706;OMIM_ID=OMIM:604277;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 39214821 . A C 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,1,10;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||SOS1|mRNA|CODING|NM_005633|);SEL_PRIMARY_EFF=0;Gene_Description=39347604;OMIM_ID=OMIM:182530;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 44101537 . A AT 255.0 Pass ALTCOUNT=016;DP=20;DP4=0,1,23,11;STDP4=20,0,16,0;AF1=0.8;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ABCG8|mRNA|CODING|NM_022437|);SEL_PRIMARY_EFF=0;Gene_Description=44105605;OMIM_ID=OMIM:605460;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,8,10:10 chr2 44101538 . C T 255.0 PASS ALTCOUNT=18;DP=19.0;DP4=1,1,15,3;AF1=0.94736844;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ABCG8|mRNA|CODING|NM_022437|);SEL_PRIMARY_EFF=0;Gene_Description=44105605;OMIM_ID=OMIM:605460;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,235,230:10 chr2 44101649 . G GCCC 255.0 Pass ALTCOUNT=013;DP=16;DP4=3,12,4,9;STDP4=16,0,13,0;AF1=0.8125;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ABCG8|mRNA|CODING|NM_022437|);SEL_PRIMARY_EFF=0;Gene_Description=44105605;OMIM_ID=OMIM:605460;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,7,9:10 chr2 44104925 . T C 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,8,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q9H221-2,Q9H221;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000272286;dbnsfpSIFT_score=0.910000;dbnsfpGERP++_NR=5.48;dbnsfpGERP++_RS=0.0541;dbnsfp29way_logOdds=5.3432;dbnsfp1000Gp1_AF=0.8937728937728938;dbnsfp1000Gp1_AFR_AF=0.9817073170731707;dbnsfp1000Gp1_EUR_AF=0.7889182058047494;dbnsfp1000Gp1_AMR_AF=0.8259668508287292;dbnsfp1000Gp1_ASN_AF=1.0;dbnsfpESP5400_AA_AF=0.945425;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gCc|V632A|ABCG8|mRNA|CODING|NM_022437|NM_022437.ex.13);SEL_PRIMARY_EFF=0;Gene_Description=44105605;OMIM_ID=OMIM:605460;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 44170849 rs115993634 T C 255.0 PASS ALTCOUNT=12;DP=22.0;DP4=10,1,9,3;AF1=0.54545456;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|P827|LRPPRC|mRNA|CODING|NM_133259|NM_133259.ex.23);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0032(C);HGVS=(NC_000002.11:g.44170849T>C,NM_133259.3:c.2481A>G,p.P827P:CCA>CCG);Gene_Description=44223144;OMIM_ID=OMIM:607544;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 44201376 rs4953042 T C 255.0 PASS ALTCOUNT=13;DP=29.0;DP4=7,10,3,10;AF1=0.44827586;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q356|LRPPRC|mRNA|CODING|NM_133259|NM_133259.ex.9);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Likely//\@benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2558(C);HGVS=(NC_000002.11:g.44201376T>C,NM_133259.3:c.1068A>G,NP_573566.2:p.Gln356//\&);Mutation_cds_syntax=c.1068A>T,c.1068A>G;Mutation_AA_syntax=p.Q356H,p.Q356Q;Mutation_Description(COSMIC)=Substitution_Missense,Substitution_coding//\@silent;Frequency_(cosmic)=25.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.1068A>Tp.Q356H,c.1068A>Gp.Q356Q;Gene_Description=44223144;OMIM_ID=OMIM:607544;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 44209477 rs6741066 C T 255.0 PASS ALTCOUNT=11;DP=25.0;DP4=6,9,6,5;AF1=0.44;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caG/caA|Q82|LRPPRC|mRNA|CODING|NM_133259|NM_133259.ex.2);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Likely//\@benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4960(C);HGVS=(NC_000002.11:g.44209477C>T,NM_133259.3:c.246G>A,NP_573566.2:p.Gln82//\&);Mutation_cds_syntax=c.246G>A;Mutation_AA_syntax=p.Q82Q;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=3.39;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.246G>Ap.Q82Q;Gene_Description=44223144;OMIM_ID=OMIM:607544;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 44528267 . GT G 255.0 Pass ALTCOUNT=014;DP=30;DP4=7,8,6,8;STDP4=30,0,14,0;AF1=0.46666667;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||SLC3A1|mRNA|CODING|NM_000341|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1136+2delT;Mutation_AA_syntax=p.?;Mutation_Description(COSMIC)=Unknown;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=bone;HGVS_Syntax(COSMIC)=c.1136+2delTp.?;Gene_Description=44547962;OMIM_ID=OMIM:104614;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,12,33:10 chr2 45171842 rs338074 A G 117.0 PASS ALTCOUNT=13;DP=13.0;DP4=1,0,8,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|A314|SIX3|mRNA|CODING|NM_005413|NM_005413.ex.2),UPSTREAM(MODIFIER||||SIX3-AS1|Non-coding_transcript|NON_CODING|NR_103785|),UPSTREAM(MODIFIER||||SIX3-AS1|Non-coding_transcript|NON_CODING|NR_103786|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0625(A);HGVS=(NC_000002.11:g.45171842A>G,NM_005413.3:c.942A>G,NP_005404.1:p.(//\&),(,,),(,,);Gene_Description=45173216;OMIM_ID=OMIM:603714;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 46603671 . C G 255.0 PASS ALTCOUNT=11;DP=12.0;DP4=1,1,8,3;AF1=0.9166667;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||EPAS1|mRNA|CODING|NM_001430|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1035-7C>G;Mutation_AA_syntax=p.?;Mutation_Description(COSMIC)=Unknown;Frequency_(cosmic)=16.67;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.1035-7C>Gp.?;Gene_Description=46613842;OMIM_ID=OMIM:603349;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 47601106 rs1126497 T C 255.0 PASS ALTCOUNT=18;DP=30.0;DP4=10,3,8,10;AF1=0.6;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P16422,B5MCA4;dbnsfpInterpro_domain=Thyroglobulin_type-1_(6),;dbnsfpEnsembl_transcriptid=ENST00000405271,ENST00000263735,ENST00000419334;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.93;dbnsfpGERP++_RS=1.71;dbnsfp29way_logOdds=11.8944;dbnsfp1000Gp1_AF=0.6593406593406593;dbnsfp1000Gp1_AFR_AF=0.8882113821138211;dbnsfp1000Gp1_EUR_AF=0.4762532981530343;dbnsfp1000Gp1_AMR_AF=0.5027624309392266;dbnsfp1000Gp1_ASN_AF=0.8041958041958042;dbnsfpESP5400_AA_AF=0.825843;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M115T|EPCAM|mRNA|CODING|NM_002354|NM_002354.ex.3),UPSTREAM(MODIFIER||||MIR559|Non-coding_transcript|NON_CODING|NR_030286|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3339(T);HGVS=(NC_000002.11:g.47601106T>C,NM_002354.2:c.344T>C,p.M115T),(,,);Mutation_cds_syntax=c.344T>C;Mutation_AA_syntax=p.M115T;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=prostate;HGVS_Syntax(COSMIC)=c.344T>Cp.M115T;Gene_Description=47614167;OMIM_ID=OMIM:185535;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 47739551 rs2303424 A G 255.0 PASS ALTCOUNT=12;DP=31.0;DP4=8,12,4,8;AF1=0.38709676;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=E9PHA6;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000406134;dbnsfpSIFT_score=0.270000;dbnsfpGERP++_NR=1.97;dbnsfpGERP++_RS=-3.02;dbnsfp29way_logOdds=3.8476;dbnsfp1000Gp1_AF=0.5018315018315018;dbnsfp1000Gp1_AFR_AF=0.6483739837398373;dbnsfp1000Gp1_EUR_AF=0.39577836411609496;dbnsfp1000Gp1_AMR_AF=0.36187845303867405;dbnsfp1000Gp1_ASN_AF=0.6048951048951049;dbnsfpESP5400_AA_AF=0.588517;EFF=INTERGENIC(MODIFIER||||||||);SEL_PRIMARY_EFF;CLINICAL_SIGNIFICANCE=not//\@provided,Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4720(A);HGVS=(,,);pValue=1.0E-255;Zygosity=HET;Category=Category//@IV-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 48915871 . A G 117.0 PASS ALTCOUNT=42;DP=42.0;DP4=1,0,19,23;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||STON1-GTF2A1L|mRNA|CODING|NM_001198593|),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D355|LHCGR|mRNA|CODING|NM_000233|NM_000233.ex.11);SEL_PRIMARY_EFF=1;Gene_Description=49003656,48982880;OMIM_ID=OMIM:152790;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 48921375 . T C 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,8,3;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=P22888;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000344775,ENST00000294954,ENST00000403273,ENST00000401907;dbnsfpSIFT_score;dbnsfpGERP++_NR=5.09;dbnsfpGERP++_RS=3.9;dbnsfp29way_logOdds=9.9216;dbnsfp1000Gp1_AF=0.63507326007326;dbnsfp1000Gp1_AFR_AF=0.2540650406504065;dbnsfp1000Gp1_EUR_AF=0.6213720316622692;dbnsfp1000Gp1_AMR_AF=0.7237569060773481;dbnsfp1000Gp1_ASN_AF=0.9248251748251748;dbnsfpESP5400_AA_AF=0.299679;EFF=INTRON(MODIFIER||||STON1-GTF2A1L|mRNA|CODING|NM_001198593|),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N312S|LHCGR|mRNA|CODING|NM_000233|NM_000233.ex.10);SEL_PRIMARY_EFF=1;Mutation_cds_syntax=c.935A>G;Mutation_AA_syntax=p.N312S;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=1.12;Tumour_Site_(cosmic)=liver;HGVS_Syntax(COSMIC)=c.935A>Gp.N312S;Gene_Description=49003656,48982880;OMIM_ID=OMIM:152790;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 49189921 rs6166 C T 117.0 PASS ALTCOUNT=21;DP=21.0;DP4=1,0,17,4;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q05AH0,G5E967;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000406846,ENST00000346173,ENST00000304421,ENST00000541117;dbnsfpSIFT_score;dbnsfpGERP++_NR=5.1;dbnsfpGERP++_RS=1.52;dbnsfp29way_logOdds=9.0679;dbnsfp1000Gp1_AF=0.5984432234432234;dbnsfp1000Gp1_AFR_AF=0.5833333333333334;dbnsfp1000Gp1_EUR_AF=0.5461741424802111;dbnsfp1000Gp1_AMR_AF=0.585635359116022;dbnsfp1000Gp1_ASN_AF=0.6888111888111889;dbnsfpESP5400_AA_AF=0.580792;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S654N|FSHR|mRNA|CODING|NM_181446|NM_181446.ex.9),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S680N|FSHR|mRNA|CODING|NM_000145|NM_000145.ex.10);SEL_PRIMARY_EFF=0;PUBMED_CITATIONS=1;CLINICAL_SIGNIFICANCE=drug//\@response,risk//\@factor;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4073(C);HGVS=(NC_000002.11:g.49189921C>T,NM_181446.2:c.1961G>A,NP_852111.2:p.Ser654Asn),(,,);Mutation_cds_syntax=c.2039G>A;Mutation_AA_syntax=p.S680N;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=1.08;Tumour_Site_(cosmic)=prostate;HGVS_Syntax(COSMIC)=c.2039G>Ap.S680N;Gene_Description=49381666;OMIM_ID=OMIM:136435;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 49244559 . A G 255.0 PASS ALTCOUNT=14;DP=22.0;DP4=8,1,13,1;AF1=0.6363636;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||FSHR|mRNA|CODING|NM_000145|),INTRON(MODIFIER||||FSHR|mRNA|CODING|NM_181446|);SEL_PRIMARY_EFF=0;Gene_Description=49381666;OMIM_ID=OMIM:136435;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 55912120 rs782572 T C 114.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,5,7;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TCS8;dbnsfpInterpro_domain=Ribosomal_protein_S5_domain_2-type_fold_(1),Exoribonuclease,_phosphorolytic_domain_1_(1),;dbnsfpEnsembl_transcriptid=ENST00000447944;dbnsfpSIFT_score=0.260000;dbnsfpGERP++_NR=5.55;dbnsfpGERP++_RS=0.133;dbnsfp29way_logOdds=1.9614;dbnsfp1000Gp1_AF=0.37774725274725274;dbnsfp1000Gp1_AFR_AF=0.3150406504065041;dbnsfp1000Gp1_EUR_AF=0.5369393139841688;dbnsfp1000Gp1_AMR_AF=0.48342541436464087;dbnsfp1000Gp1_ASN_AF=0.15384615384615385;dbnsfpESP5400_AA_AF=0.343232;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I121V|PNPT1|mRNA|CODING|NM_033109|NM_033109.ex.4);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3281(C);HGVS=(NC_000002.11:g.55912120T>C,NM_033109.4:c.361A>G,p.I121V:ATT>GTT);Mutation_cds_syntax=c.361A>G;Mutation_AA_syntax=p.I121V;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=1.85;Tumour_Site_(cosmic)=pancreas;HGVS_Syntax(COSMIC)=c.361A>Gp.I121V;Gene_Description=55921045;OMIM_ID=OMIM:610316;pValue=1.0E-114;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 56149475 . C G 255.0 PASS ALTCOUNT=10;DP=12.0;DP4=3,0,7,3;AF1=0.8333333;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||EFEMP1|mRNA|CODING|NM_001039348|),INTRON(MODIFIER||||EFEMP1|mRNA|CODING|NM_001039349|);SEL_PRIMARY_EFF=0;Gene_Description=56151298;OMIM_ID=OMIM:601548;pValue=1.0E-255;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 62053546 . CGC C 255.0 Pass ALTCOUNT=011;DP=12;DP4=0,0,8,3;STDP4=12,0,11,0;AF1=0.9166667;;MQ=16;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=FRAME_SHIFT(HIGH||||FAM161A|mRNA|CODING|NR_037710|NR_037710.ex.6),UTR_3_PRIME(MODIFIER||||FAM161A|mRNA|CODING|NM_001201543|NM_001201543.ex.7),UTR_3_PRIME(MODIFIER||||FAM161A|mRNA|CODING|NM_032180|NM_032180.ex.6);SEL_PRIMARY_EFF=0;Gene_Description=62081278;OMIM_ID=OMIM:613596;pValue=1.0E-255;Zygosity=HOM;Category=Category//@I-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,108,255:10 chr2 62066927 rs4672457 A G 117.0 PASS ALTCOUNT=27;DP=27.0;DP4=1,0,13,14;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W420R|FAM161A|mRNA|CODING|NR_037710|NR_037710.ex.3),SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C404|FAM161A|mRNA|CODING|NM_001201543|NM_001201543.ex.3),SYNONYMOUS_CODING(LOW|SILENT|tgT/tgC|C404|FAM161A|mRNA|CODING|NM_032180|NM_032180.ex.3);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.0204(A);HGVS=(,,),(NC_000002.11:g.62066927A>G,NM_001201543.1:c.1212T>C,NP_115556.2:p.(//\&),(,,);Gene_Description=62081278;OMIM_ID=OMIM:613596;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 69659126 rs4453725 A T 255.0 PASS ALTCOUNT=10;DP=21.0;DP4=7,5,4,6;AF1=0.47619048;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q9UMS0-3,Q9UMS0;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000410022,ENST00000303698;dbnsfpSIFT_score=0.010000;dbnsfpGERP++_NR=5.1;dbnsfpGERP++_RS=3.94;dbnsfp29way_logOdds=6.8836;dbnsfp1000Gp1_AF=0.30952380952380953;dbnsfp1000Gp1_AFR_AF=0.22967479674796748;dbnsfp1000Gp1_EUR_AF=0.41952506596306066;dbnsfp1000Gp1_AMR_AF=0.3812154696132597;dbnsfp1000Gp1_ASN_AF=0.18706293706293706;dbnsfpESP5400_AA_AF=0.283039;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Agt|C94S|NFU1|mRNA|CODING|NR_045631|NR_045631.ex.2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Agt|C94S|NFU1|mRNA|CODING|NR_045632|NR_045632.ex.2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aAg|M25K|NFU1|mRNA|CODING|NM_001002755|NM_001002755.ex.2),START_GAINED(LOW||||NFU1|mRNA|CODING|NM_001002756|NM_001002756.ex.2),START_LOST(HIGH|MISSENSE|aTg/aAg|M1K|NFU1|mRNA|CODING|NM_015700|NM_015700.ex.2);SEL_PRIMARY_EFF=4;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3171(T);HGVS=(,,),(,,),(NC_000002.11:g.69659126A>T,NM_001002755.2:c.74T>A,p.M25K:ATG>AAG),(,,),(,,);Mutation_cds_syntax=c.74T>A;Mutation_AA_syntax=p.M25K;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=2.44,22.22,25.0;Tumour_Site_(cosmic)=pancreas,large_intestine,prostate;HGVS_Syntax(COSMIC)=c.74T>Ap.M25K;Gene_Description=69664760;OMIM_ID=OMIM:608100;pValue=1.0E-255;Zygosity=HET;Category=Category//@I-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 71012604 . G A 117.0 PASS ALTCOUNT=38;DP=38.0;DP4=1,0,21,17;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H184|FIGLA|mRNA|CODING|NM_001004311|NM_001004311.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.552C>T;Mutation_AA_syntax=p.H184H;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=14.29;Tumour_Site_(cosmic)=large_intestine;HGVS_Syntax(COSMIC)=c.552C>Tp.H184H;Gene_Description=71017775;OMIM_ID=OMIM:608697;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 71012734 . C G 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,5,9;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q6QHK4;dbnsfpInterpro_domain=Helix-loop-helix_DNA-binding_(1),;dbnsfpEnsembl_transcriptid=ENST00000332372;dbnsfpSIFT_score=0.950000;dbnsfpGERP++_NR=4.12;dbnsfpGERP++_RS=3.24;dbnsfp29way_logOdds=6.0393;dbnsfp1000Gp1_AF=0.7513736263736264;dbnsfp1000Gp1_AFR_AF=0.8780487804878049;dbnsfp1000Gp1_EUR_AF=0.5712401055408971;dbnsfp1000Gp1_AMR_AF=0.6574585635359116;dbnsfp1000Gp1_ASN_AF=0.9405594405594405;dbnsfpESP5400_AA_AF=0.8125;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S141T|FIGLA|mRNA|CODING|NM_001004311|NM_001004311.ex.3);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.422G>C;Mutation_AA_syntax=p.S141T;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=14.29,11.11,50.0,20.0;Tumour_Site_(cosmic)=large_intestine,pancreas,thyroid;HGVS_Syntax(COSMIC)=c.422G>Cp.S141T;Gene_Description=71017775;OMIM_ID=OMIM:608697;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 71185391 . A C 114.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,2,8;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ATP6V1B1|mRNA|CODING|NM_001692|);SEL_PRIMARY_EFF=0;Gene_Description=71192561;OMIM_ID=OMIM:192132;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 71190384 rs2072462 C T 117.0 PASS ALTCOUNT=15;DP=15.0;DP4=1,0,7,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|cgC/cgT|R334|ATP6V1B1|mRNA|CODING|NM_001692|NM_001692.ex.10);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4375(T);HGVS=(NC_000002.11:g.71190384C>T,NM_001692.3:c.1002C>T,p.Arg334Arg);Mutation_cds_syntax=c.1002C>T;Mutation_AA_syntax=p.R334R;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=66.67;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.1002C>Tp.R334R;Gene_Description=71192561;OMIM_ID=OMIM:192132;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 71351403 rs6748672 C A 255.0 PASS ALTCOUNT=11;DP=22.0;DP4=10,2,5,6;AF1=0.5;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc=Q96PE7;dbnsfpInterpro_domain=Glyoxalase/fosfomycin_resistance/dioxygenase_(1),;dbnsfpEnsembl_transcriptid=ENST00000244217,ENST00000494660,ENST00000486135;dbnsfpSIFT_score=0.030000;dbnsfpGERP++_NR=5.38;dbnsfpGERP++_RS=-4.61;dbnsfp29way_logOdds=6.8041;dbnsfp1000Gp1_AF=0.17261904761904762;dbnsfp1000Gp1_AFR_AF=0.21951219512195122;dbnsfp1000Gp1_EUR_AF=0.13984168865435356;dbnsfp1000Gp1_AMR_AF=0.1685082872928177;dbnsfp1000Gp1_ASN_AF=0.17832167832167833;dbnsfpESP5400_AA_AF=0.223917;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cTt|R104L|MCEE|mRNA|CODING|NM_032601|NM_032601.ex.2);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.2015(A);HGVS=(NC_000002.11:g.71351403C>A,NM_032601.3:c.311G>T,p.R104L:CGT>CTT);Mutation_cds_syntax=c.311G>T;Mutation_AA_syntax=p.R104L;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=100.0;Tumour_Site_(cosmic)=haematopoietic_and_lymphoid_tissue,bone;HGVS_Syntax(COSMIC)=c.311G>Tp.R104L;Gene_Description=71357394;OMIM_ID=OMIM:608419;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 71351487 rs11541017 G A 255.0 PASS ALTCOUNT=12;DP=21.0;DP4=7,3,6,6;AF1=0.5714286;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q96PE7;dbnsfpInterpro_domain=Glyoxalase/fosfomycin_resistance/dioxygenase_(1),;dbnsfpEnsembl_transcriptid=ENST00000244217;dbnsfpSIFT_score=0.470000;dbnsfpGERP++_NR=5.39;dbnsfpGERP++_RS=-4.05;dbnsfp29way_logOdds=7.0962;dbnsfp1000Gp1_AF=0.20604395604395603;dbnsfp1000Gp1_AFR_AF=0.03048780487804878;dbnsfp1000Gp1_EUR_AF=0.39577836411609496;dbnsfp1000Gp1_AMR_AF=0.3011049723756906;dbnsfp1000Gp1_ASN_AF=0.045454545454545456;dbnsfpESP5400_AA_AF=0.079454;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A76V|MCEE|mRNA|CODING|NM_032601|NM_032601.ex.2);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1825(A);HGVS=(NC_000002.11:g.71351487G>A,NM_032601.3:c.227C>T,p.A76V:GCG>GTG);Mutation_cds_syntax=c.227C>T;Mutation_AA_syntax=p.A76V;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=20.0,4.17;Tumour_Site_(cosmic)=prostate,large_intestine;HGVS_Syntax(COSMIC)=c.227C>Tp.A76V;Gene_Description=71357394;OMIM_ID=OMIM:608419;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 71747235 . A G 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,9,2;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130455|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130976|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130977|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130978|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130979|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130980|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130981|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130982|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130983|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130984|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130985|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130986|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130987|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_003494|);SEL_PRIMARY_EFF=0;Gene_Description=71913893;OMIM_ID=OMIM:603009;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 71747432 . G T 114.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,5,5;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130455|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130976|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130977|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130978|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130979|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130980|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130981|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130982|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130983|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130984|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130985|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130986|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130987|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_003494|);SEL_PRIMARY_EFF=0;Gene_Description=71913893;OMIM_ID=OMIM:603009;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 71747899 rs12713756 G A 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,11,6;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130455|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130976|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130977|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130978|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130979|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130980|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130981|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130982|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130983|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130984|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130985|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130986|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130987|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_003494|);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Benign;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.3678(A);HGVS=(,,),(,,),(,,),(NC_000002.11:g.71747899G>A,NM_001130978.1:c.938-20G>A,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,);Gene_Description=71913893;OMIM_ID=OMIM:603009;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 71755380 . A G 117.0 PASS ALTCOUNT=12;DP=12.0;DP4=1,0,11,1;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130455|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130976|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130977|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130978|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130979|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130980|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130981|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130982|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130983|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130984|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130985|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130986|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130987|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_003494|);SEL_PRIMARY_EFF=0;Gene_Description=71913893;OMIM_ID=OMIM:603009;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 71780215 rs2303596 T C 117.0 PASS ALTCOUNT=24;DP=24.0;DP4=1,0,12,12;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D595|DYSF|mRNA|CODING|NM_001130976|NM_001130976.ex.19),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D595|DYSF|mRNA|CODING|NM_001130977|NM_001130977.ex.19),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D596|DYSF|mRNA|CODING|NM_001130984|NM_001130984.ex.19),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D596|DYSF|mRNA|CODING|NM_001130986|NM_001130986.ex.19),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D609|DYSF|mRNA|CODING|NM_001130978|NM_001130978.ex.20),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D609|DYSF|mRNA|CODING|NM_003494|NM_003494.ex.20),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D610|DYSF|mRNA|CODING|NM_001130455|NM_001130455.ex.20),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D610|DYSF|mRNA|CODING|NM_001130983|NM_001130983.ex.20),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D626|DYSF|mRNA|CODING|NM_001130980|NM_001130980.ex.20),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D626|DYSF|mRNA|CODING|NM_001130981|NM_001130981.ex.20),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D627|DYSF|mRNA|CODING|NM_001130985|NM_001130985.ex.20),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D627|DYSF|mRNA|CODING|NM_001130987|NM_001130987.ex.20),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D640|DYSF|mRNA|CODING|NM_001130979|NM_001130979.ex.21),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D641|DYSF|mRNA|CODING|NM_001130982|NM_001130982.ex.21);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Conflicting//\@interpretations//\@of//\@pathogenicity;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4245(T);HGVS=(,,),(,,),(,,),(,,),(NC_000002.11:g.71780215T>C,NM_001130978.1:c.1827T>C,NP_003485.1:p.(//\&),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,);Mutation_cds_syntax=c.1827T>C,c.1881T>C;Mutation_AA_syntax=p.D609D,p.D627D;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=100.0,14.29,9.09;Tumour_Site_(cosmic)=bone,haematopoietic_and_lymphoid_tissue;HGVS_Syntax(COSMIC)=c.1827T>Cp.D609D,c.1881T>Cp.D627D;Gene_Description=71913893;OMIM_ID=OMIM:603009;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 71795152 rs2288355 A T 255.0 PASS ALTCOUNT=14;DP=28.0;DP4=6,9,7,7;AF1=0.5;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S847|DYSF|mRNA|CODING|NM_001130976|NM_001130976.ex.24),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S847|DYSF|mRNA|CODING|NM_001130977|NM_001130977.ex.24),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S848|DYSF|mRNA|CODING|NM_001130984|NM_001130984.ex.24),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S848|DYSF|mRNA|CODING|NM_001130986|NM_001130986.ex.24),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S861|DYSF|mRNA|CODING|NM_001130978|NM_001130978.ex.25),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S861|DYSF|mRNA|CODING|NM_003494|NM_003494.ex.25),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S862|DYSF|mRNA|CODING|NM_001130455|NM_001130455.ex.25),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S862|DYSF|mRNA|CODING|NM_001130983|NM_001130983.ex.25),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S878|DYSF|mRNA|CODING|NM_001130980|NM_001130980.ex.25),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S878|DYSF|mRNA|CODING|NM_001130981|NM_001130981.ex.25),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S879|DYSF|mRNA|CODING|NM_001130985|NM_001130985.ex.25),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S879|DYSF|mRNA|CODING|NM_001130987|NM_001130987.ex.25),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S892|DYSF|mRNA|CODING|NM_001130979|NM_001130979.ex.26),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcT|S893|DYSF|mRNA|CODING|NM_001130982|NM_001130982.ex.26);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Conflicting//\@interpretations//\@of//\@pathogenicity;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.4495(A);HGVS=(,,),(,,),(,,),(,,),(NC_000002.11:g.71795152A>T,NM_001130978.1:c.2583A>T,NP_003485.1:p.(//\&),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,);Mutation_cds_syntax=c.2637A>T,c.2583A>T;Mutation_AA_syntax=p.S879S,p.S861S;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0,28.57,3.03,18.18,0.68;Tumour_Site_(cosmic)=thyroid,haematopoietic_and_lymphoid_tissue,liver;HGVS_Syntax(COSMIC)=c.2637A>Tp.S879S,c.2583A>Tp.S861S;Gene_Description=71913893;OMIM_ID=OMIM:603009;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 71871236 . A G 114.0 PASS ALTCOUNT=10;DP=10.0;DP4=1,0,0,10;AF1=1.0;MQ=38;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130455|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130976|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130977|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130978|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130979|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130980|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130981|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130982|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130983|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130984|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130985|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130986|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130987|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_003494|);SEL_PRIMARY_EFF=0;Gene_Description=71913893;OMIM_ID=OMIM:603009;pValue=1.0E-114;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 71891361 . C T 117.0 PASS ALTCOUNT=17;DP=17.0;DP4=1,0,12,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130455|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130976|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130977|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130978|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130979|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130980|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130981|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130982|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130983|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130984|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130985|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130986|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_001130987|),INTRON(MODIFIER||||DYSF|mRNA|CODING|NM_003494|);SEL_PRIMARY_EFF=0;Gene_Description=71913893;OMIM_ID=OMIM:603009;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 71906278 rs17718530 A C 255.0 PASS ALTCOUNT=21;DP=37.0;DP4=9,8,15,6;AF1=0.5675676;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1939|DYSF|mRNA|CODING|NM_001130976|NM_001130976.ex.51),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1940|DYSF|mRNA|CODING|NM_001130986|NM_001130986.ex.51),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1953|DYSF|mRNA|CODING|NM_003494|NM_003494.ex.52),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1954|DYSF|mRNA|CODING|NM_001130455|NM_001130455.ex.52),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1960|DYSF|mRNA|CODING|NM_001130977|NM_001130977.ex.52),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1961|DYSF|mRNA|CODING|NM_001130984|NM_001130984.ex.52),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1970|DYSF|mRNA|CODING|NM_001130980|NM_001130980.ex.52),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1971|DYSF|mRNA|CODING|NM_001130985|NM_001130985.ex.52),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1974|DYSF|mRNA|CODING|NM_001130978|NM_001130978.ex.53),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1975|DYSF|mRNA|CODING|NM_001130983|NM_001130983.ex.53),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1984|DYSF|mRNA|CODING|NM_001130979|NM_001130979.ex.53),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1985|DYSF|mRNA|CODING|NM_001130982|NM_001130982.ex.53),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1991|DYSF|mRNA|CODING|NM_001130981|NM_001130981.ex.53),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P1992|DYSF|mRNA|CODING|NM_001130987|NM_001130987.ex.53);SEL_PRIMARY_EFF=0;CLINICAL_SIGNIFICANCE=Conflicting//\@interpretations//\@of//\@pathogenicity;ALLELE_ORIGIN=germline;GLOBAL_MAF=0.1689(C);HGVS=(,,),(,,),(NC_000002.11:g.71906278A>C,NM_003494.3:c.5859A>C,NP_003485.1:p.(//\&),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,),(,,);Gene_Description=71913893;OMIM_ID=OMIM:603009;pValue=1.0E-255;Zygosity=HET;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 73649928 . G A 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,11,0;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=INTRON(MODIFIER||||ALMS1|mRNA|CODING|NM_015120|);SEL_PRIMARY_EFF=0;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 73651967 . C T 117.0 PASS ALTCOUNT=11;DP=11.0;DP4=1,0,8,3;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=B8ZZJ3,Q8TCU4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000409009,ENST00000264448,ENST00000377715;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.17;dbnsfpGERP++_RS=0.185;dbnsfp29way_logOdds=1.7727;dbnsfp1000Gp1_AF=0.3383699633699634;dbnsfp1000Gp1_AFR_AF=0.8678861788617886;dbnsfp1000Gp1_EUR_AF=0.23482849604221637;dbnsfp1000Gp1_AMR_AF=0.34806629834254144;dbnsfp1000Gp1_ASN_AF=0.013986013986013986;dbnsfpESP5400_AA_AF=0.727539;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R392C|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.5);SEL_PRIMARY_EFF=0;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 73675227 . T TTTC 255.0 Pass ALTCOUNT=011;DP=33;DP4=20,12,7,4;STDP4=33,0,11,0;AF1=0.33333334;;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||tct/tTTCct|S524FP|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.8);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.1570_1571insCTC;Mutation_AA_syntax=p.S524_L525insP;Mutation_Description(COSMIC)=Insertion_In//\@frame;Frequency_(cosmic)=54.84;Tumour_Site_(cosmic)=upper_aerodigestive_tract;HGVS_Syntax(COSMIC)=c.1570_1571insCTCp.S524_L525insP;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,11,48:10 chr2 73675669 . T G 117.0 PASS ALTCOUNT=42;DP=42.0;DP4=1,0,21,21;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TCU4-3,B8ZZJ3,Q8TCU4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000409009,ENST00000264448,ENST00000377715;dbnsfpSIFT_score=0.240000;dbnsfpGERP++_NR=4.11;dbnsfpGERP++_RS=0.151;dbnsfp29way_logOdds=1.1309;dbnsfp1000Gp1_AF=0.8621794871794872;dbnsfp1000Gp1_AFR_AF=0.9126016260162602;dbnsfp1000Gp1_EUR_AF=0.8707124010554089;dbnsfp1000Gp1_AMR_AF=0.9226519337016574;dbnsfp1000Gp1_ASN_AF=0.7692307692307693;dbnsfpESP5400_AA_AF=0.903944;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTa/gGa|V671G|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.8);SEL_PRIMARY_EFF=0;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 73677833 . A G 117.0 PASS ALTCOUNT=40;DP=40.0;DP4=1,0,23,17;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|caA/caG|Q1392|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.8);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.4176A>G;Mutation_AA_syntax=p.Q1392Q;Mutation_Description(COSMIC)=Substitution_coding//\@silent;Frequency_(cosmic)=50.0,0.78;Tumour_Site_(cosmic)=thyroid,large_intestine;HGVS_Syntax(COSMIC)=c.4176A>Gp.Q1392Q;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-117;Zygosity=HOM;Category=Category//@III-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 73677898 . G C 117.0 PASS ALTCOUNT=51;DP=52.0;DP4=1,0,25,27;AF1=0.9807692;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TCU4-3,B8ZZJ3,Q8TCU4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000409009,ENST00000264448,ENST00000377715;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.01;dbnsfpGERP++_RS=-0.18;dbnsfp29way_logOdds=5.8903;dbnsfp1000Gp1_AF=0.33791208791208793;dbnsfp1000Gp1_AFR_AF=0.8658536585365854;dbnsfp1000Gp1_EUR_AF=0.23482849604221637;dbnsfp1000Gp1_AMR_AF=0.34806629834254144;dbnsfp1000Gp1_ASN_AF=0.013986013986013986;dbnsfpESP5400_AA_AF=0.728525;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gCt|G1414A|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.8);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.4241G>C;Mutation_AA_syntax=p.G1414A;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=0.91;Tumour_Site_(cosmic)=pancreas;HGVS_Syntax(COSMIC)=c.4241G>Cp.G1414A;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 73678616 . G T 255.0 PASS ALTCOUNT=17;DP=36.0;DP4=10,10,9,8;AF1=0.4722222;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TCU4-3,B8ZZJ3,Q8TCU4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000409009,ENST00000264448,ENST00000377715;dbnsfpSIFT_score=0.250000;dbnsfpGERP++_NR=4.26;dbnsfpGERP++_RS=-0.872;dbnsfp29way_logOdds=4.5069;dbnsfp1000Gp1_AF=0.031135531135531136;dbnsfp1000Gp1_AFR_AF=0.04878048780487805;dbnsfp1000Gp1_EUR_AF=0.0079155672823219;dbnsfp1000Gp1_AMR_AF=0.09392265193370165;dbnsfp1000Gp1_ASN_AF=0.006993006993006993;dbnsfpESP5400_AA_AF=0.028277;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K1653N|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.8);SEL_PRIMARY_EFF=0;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 73679280 . A G 117.0 PASS ALTCOUNT=39;DP=39.0;DP4=1,0,22,17;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TCU4-3,B8ZZJ3,Q8TCU4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000409009,ENST00000264448,ENST00000377715;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.38;dbnsfpGERP++_RS=-3.33;dbnsfp29way_logOdds=5.2394;dbnsfp1000Gp1_AF=0.3347069597069597;dbnsfp1000Gp1_AFR_AF=0.8516260162601627;dbnsfp1000Gp1_EUR_AF=0.23482849604221637;dbnsfp1000Gp1_AMR_AF=0.34806629834254144;dbnsfp1000Gp1_ASN_AF=0.013986013986013986;dbnsfpESP5400_AA_AF=0.717635;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ata/Gta|I1875V|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.8),UPSTREAM(MODIFIER||||ALMS1-IT1|Non-coding_transcript|NON_CODING|NR_046762|);SEL_PRIMARY_EFF=0;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 73679440 . G A 255.0 PASS ALTCOUNT=18;DP=36.0;DP4=8,11,6,12;AF1=0.5;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TCU4-3,B8ZZJ3,Q8TCU4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000409009,ENST00000264448,ENST00000377715;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.44;dbnsfpGERP++_RS=2.0;dbnsfp29way_logOdds=4.7251;dbnsfp1000Gp1_AF=0.030677655677655676;dbnsfp1000Gp1_AFR_AF=0.04878048780487805;dbnsfp1000Gp1_EUR_AF=0.0079155672823219;dbnsfp1000Gp1_AMR_AF=0.09116022099447514;dbnsfp1000Gp1_ASN_AF=0.006993006993006993;dbnsfpESP5400_AA_AF=0.028265;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1928Q|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.8),UPSTREAM(MODIFIER||||ALMS1-IT1|Non-coding_transcript|NON_CODING|NR_046762|);SEL_PRIMARY_EFF=0;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 73679866 . T C 255.0 PASS ALTCOUNT=11;DP=28.0;DP4=8,10,3,8;AF1=0.39285713;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TCU4-3,B8ZZJ3,Q8TCU4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000409009,ENST00000264448,ENST00000377715;dbnsfpSIFT_score=0.220000;dbnsfpGERP++_NR=4.38;dbnsfpGERP++_RS=-5.09;dbnsfp29way_logOdds=2.7425;dbnsfp1000Gp1_AF=0.10393772893772894;dbnsfp1000Gp1_AFR_AF=0.08130081300813008;dbnsfp1000Gp1_EUR_AF=0.16358839050131926;dbnsfp1000Gp1_AMR_AF=0.16298342541436464;dbnsfp1000Gp1_ASN_AF=0.006993006993006993;dbnsfpESP5400_AA_AF=0.079755;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I2070T|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.8),UPSTREAM(MODIFIER||||ALMS1-IT1|Non-coding_transcript|NON_CODING|NR_046762|);SEL_PRIMARY_EFF=0;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-255;Zygosity=HET;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/0:0,255,255:10 chr2 73679990 . T A 117.0 PASS ALTCOUNT=22;DP=22.0;DP4=1,0,8,14;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TCU4-3,B8ZZJ3,Q8TCU4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000409009,ENST00000264448,ENST00000377715;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=3.99;dbnsfpGERP++_RS=-5.06;dbnsfp29way_logOdds=0.5589;dbnsfp1000Gp1_AF=0.3374542124542125;dbnsfp1000Gp1_AFR_AF=0.8638211382113821;dbnsfp1000Gp1_EUR_AF=0.23482849604221637;dbnsfp1000Gp1_AMR_AF=0.34806629834254144;dbnsfp1000Gp1_ASN_AF=0.013986013986013986;dbnsfpESP5400_AA_AF=0.728685;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agA|S2111R|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.8),UPSTREAM(MODIFIER||||ALMS1-IT1|Non-coding_transcript|NON_CODING|NR_046762|);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.6333T>A;Mutation_AA_syntax=p.S2111R;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.6333T>Ap.S2111R;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 73680508 . G C 117.0 PASS ALTCOUNT=41;DP=41.0;DP4=1,0,19,22;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TCU4-3,B8ZZJ3,Q8TCU4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000409009,ENST00000264448,ENST00000377715;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=5.49;dbnsfpGERP++_RS=5.49;dbnsfp29way_logOdds=12.855;dbnsfp1000Gp1_AF=0.3374542124542125;dbnsfp1000Gp1_AFR_AF=0.8638211382113821;dbnsfp1000Gp1_EUR_AF=0.23482849604221637;dbnsfp1000Gp1_AMR_AF=0.34806629834254144;dbnsfp1000Gp1_ASN_AF=0.013986013986013986;dbnsfpESP5400_AA_AF=0.731855;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cCt|R2284P|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.8),UPSTREAM(MODIFIER||||ALMS1-IT1|Non-coding_transcript|NON_CODING|NR_046762|);SEL_PRIMARY_EFF=0;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 73717567 . G T 117.0 PASS ALTCOUNT=14;DP=14.0;DP4=1,0,9,5;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TCU4-3,B8ZZJ3,Q8TCU4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000409009,ENST00000264448;dbnsfpSIFT_score=1.000000;dbnsfpGERP++_NR=4.33;dbnsfpGERP++_RS=0.258;dbnsfp29way_logOdds=6.6891;dbnsfp1000Gp1_AF=0.3342490842490842;dbnsfp1000Gp1_AFR_AF=0.8495934959349594;dbnsfp1000Gp1_EUR_AF=0.23482849604221637;dbnsfp1000Gp1_AMR_AF=0.34806629834254144;dbnsfp1000Gp1_ASN_AF=0.013986013986013986;dbnsfpESP5400_AA_AF=0.717463;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agG/agT|R2826S|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.10);SEL_PRIMARY_EFF=0;Mutation_cds_syntax=c.8478G>T;Mutation_AA_syntax=p.R2826S;Mutation_Description(COSMIC)=Substitution_Missense;Frequency_(cosmic)=50.0;Tumour_Site_(cosmic)=thyroid;HGVS_Syntax(COSMIC)=c.8478G>Tp.R2826S;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 73717656 . A G 117.0 PASS ALTCOUNT=18;DP=18.0;DP4=1,0,10,8;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc=Q8TCU4-3,B8ZZJ3,Q8TCU4;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid=ENST00000409009,ENST00000264448;dbnsfpSIFT_score=0.510000;dbnsfpGERP++_NR=0.225;dbnsfpGERP++_RS=0.225;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF=0.3342490842490842;dbnsfp1000Gp1_AFR_AF=0.8495934959349594;dbnsfp1000Gp1_EUR_AF=0.23482849604221637;dbnsfp1000Gp1_AMR_AF=0.34806629834254144;dbnsfp1000Gp1_ASN_AF=0.013986013986013986;dbnsfpESP5400_AA_AF=0.715718;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N2856S|ALMS1|mRNA|CODING|NM_015120|NM_015120.ex.10);SEL_PRIMARY_EFF=0;Gene_Description=73837046;OMIM_ID=OMIM:606844;pValue=1.0E-117;Zygosity=HOM;Category=Category//@II-Default//@Categorization;state=ALGORITHM_GENERATED GT:PL:GQ 1/1:0,0,255:255 chr2 73829372 . C T 117.0 PASS ALTCOUNT=28;DP=28.0;DP4=1,0,21,7;AF1=1.0;MQ=39;IsKnownVariant=0;dbnsfpUniprot_acc;dbnsfpInterpro_domain;dbnsfpEnsembl_transcriptid;dbnsfpSIFT_score;dbnsfpGERP++_NR;dbnsfpGERP++_RS;dbnsfp29way_logOdds;dbnsfp1000Gp1_AF;dbnsfp1000Gp1_AFR_AF;dbnsfp1000Gp1_EUR_AF;dbnsfp1000Gp1_AMR_AF;dbnsfp1000Gp1_ASN_AF;dbnsfpESP5400_AA_AF;EFF=SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L4058|ALMS1|mRNA|CODING|NM_015120|NM_015120