##fileformat=VCFv4.2 ##vcfAddFormat.pl-version=0.0.2 ##fileDate=Wed Jul 24 15:02:28 2019 ##genePanel=CES_v2 ##reference=/sg/pipelineData/genome/Homo_sapiens/hg19_karyotypicOrdered/fasta/human_g1k_v37.fasta ##species=http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 ##genome-build=GRCh37 ##technology-platform-name=Illumina ##technology-platform-read-type=pair ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##ALT= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 21588-0004-S2_DF 1 976481 840878361 CGGAGCGGGGCG C 337 off_target VARTYPE=1;BGN=0.000993604;ARL=215;DER=43;DEA=47;QR=31;QA=372;NVF=0.66;TYPE=INDEL;DBXREF=GnomAD_AC_genome:54,GnomAD_AN_genome:284,GnomAD:0.1901;SGVEP=AGRN|+|NM_001305275|5|c.728-51_728-41del|.|intronic GT:DP:AD:DP4 0/1:21:8,13:8,0,13,0 1 976514 82744777 C A 647 off_target VARTYPE=1;BGN=0.00246784;ARL=224;DER=41;DEA=41;QR=33;QA=33;PBP=379;PBM=275;NVF=0.57;TYPE=SNP;DBXREF=dbSNP:rs79290478,esp5400:0.9480,GnomAD_AC_exome:2218,GnomAD_AN_exome:2810,GnomAD:0.7893;SGVEP=AGRN|+|NM_001305275|5|c.728-39C>A|.|intronic GT:DP:AD:DP4 0/1:57:24,31:15,9,18,13 1 977330 95699 T C 781 off_target VARTYPE=1;BGN=0.00119188;ARL=232;DER=74;DEA=72;QR=35;QA=37;PBP=441;PBM=348;TYPE=SNP;DBXREF=dbSNP:rs2799066,g1000:0.8852,esp5400:0.8525,ExAC:0.9150,clinvar:rs2799066,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:222664,GnomAD_AN_exome:241110,GnomAD_AC_genome:26789,GnomAD_AN_genome:30458,GnomAD:0.9186;SGVEP=AGRN|+|NM_001305275|7|c.1178-6T>C|.|intronic GT:DP:AD:DP4 0/1:74:40,34:22,18,19,15 1 977570 82747643 G A 582 off_target VARTYPE=1;BGN=0.00171504;ARL=227;DER=54;DEA=49;QR=37;QA=35;PBP=262;PBM=327;TYPE=SNP;DBXREF=dbSNP:rs2710876,g1000:0.7941,esp5400:0.7682,ExAC:0.8790,clinvar:rs2710876,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:190923,GnomAD_AN_exome:212656,GnomAD_AC_genome:24420,GnomAD_AN_genome:30836,GnomAD:0.8844;SGVEP=AGRN|+|NM_001305275|7|c.1384+28G>A|.|intronic GT:DP:AD:DP4 0/1:58:31,27:14,17,12,15 1 978603 82748238 CCT C 826 off_target VARTYPE=1;BGN=0.000993604;ARL=226;DER=70;DEA=61;QR=33;QA=73;PBP=429;PBM=405;TYPE=INDEL;DBXREF=dbSNP:rs35881187,g1000:0.4792,ExAC:0.4970,clinvar:rs35881187,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:110564,GnomAD_AN_exome:200440,GnomAD_AC_genome:13290,GnomAD_AN_genome:30686,GnomAD:0.5359;SGVEP=AGRN|+|NM_001305275|8|c.1385-15_1385-14del|.|intronic GT:DP:AD:DP4 0/1:58:25,33:13,12,17,16 1 980460 82751596 G A 530 off_target VARTYPE=1;BGN=0.00171504;ARL=255;DER=51;DEA=43;QR=34;QA=35;PBP=299;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs3128097,g1000:0.9119,GnomAD_AC_genome:27871,GnomAD_AN_genome:30838,GnomAD:0.9038;SGVEP=AGRN|+|NM_001305275|13|c.2255-81G>A|.|intronic GT:DP:AD:DP4 0/1:39:16,23:10,6,13,10 1 981087 82753454 A G 618 off_target VARTYPE=1;BGN=0.00142973;ARL=236;DER=58;DEA=56;QR=34;QA=36;PBP=356;PBM=269;TYPE=SNP;DBXREF=dbSNP:rs3128098,g1000:0.8694,esp5400:0.8323,ExAC:0.9120,clinvar:rs3128098,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:225582,GnomAD_AN_exome:244922,GnomAD_AC_genome:26472,GnomAD_AN_genome:30868,GnomAD:0.9139;SGVEP=AGRN|+|NM_001305275|15|c.2537-26A>G|.|intronic GT:DP:AD:DP4 0/1:63:35,28:20,15,16,12 1 981931 95708 A G 635 PASS VARTYPE=1;BGN=0.00142973;ARL=213;DER=100;DEA=74;QR=33;QA=36;PBP=370;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs2465128,g1000:0.7977,esp5400:0.7788,ExAC:0.8730,clinvar:rs2465128,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:213225,GnomAD_AN_exome:240332,GnomAD_AC_genome:24739,GnomAD_AN_genome:30688,GnomAD:0.8780;SGVEP=AGRN|+|NM_001305275|18|c.3066A>G|p.(Ser1022:)|synonymous GT:DP:AD:DP4 0/1:67:38,29:15,23,16,13 1 982444 82757149 A G 653 off_target VARTYPE=1;BGN=0.00142973;ARL=258;DEA=56;QA=36;PBP=284;PBM=370;TYPE=SNP;DBXREF=dbSNP:rs3128099,g1000:0.8219,GnomAD_AC_genome:25257,GnomAD_AN_genome:30774,GnomAD:0.8207;SGVEP=AGRN|+|NM_001305275|19|c.3388+107A>G|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,10,13 1 982462 82757161 T C 540 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=265;DEA=61;QA=36;PBP=227;PBM=313;TYPE=SNP;DBXREF=dbSNP:rs3128100,g1000:0.9808,GnomAD_AC_genome:30419,GnomAD_AN_genome:30852,GnomAD:0.9860;SGVEP=AGRN|+|NM_001305275|19|c.3388+125T>C|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,8,11 1 982513 82757251 T C 276 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=287;DEA=136;QA=35;PBP=111;PBM=166;TYPE=SNP;DBXREF=dbSNP:rs3128101,g1000:0.9287,GnomAD_AC_genome:28310,GnomAD_AN_genome:30866,GnomAD:0.9172;SGVEP=AGRN|+|NM_001305275|19|c.3388+176T>C|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,4,6 1 982539 82757263 C A 217 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=276;DER=107;DEA=95;QR=32;QA=37;PBP=117;PBM=105;TYPE=SNP;DBXREF=dbSNP:rs148629116,g1000:0.0030,GnomAD_AC_genome:113,GnomAD_AN_genome:30896,GnomAD:0.0037;SGVEP=AGRN|+|NM_001305275|20|c.3389-168C>A|.|intronic GT:DP:AD:DP4 1/1:10:2,8:0,2,4,4 1 982844 95713 G C 1053 off_target VARTYPE=1;BGN=0.00119188;ARL=231;DER=100;DEA=112;QR=36;QA=37;PBP=526;PBM=537;TYPE=SNP;DBXREF=dbSNP:rs76264143,g1000:0.0387,esp5400:0.0551,ExAC:0.0570,clinvar:rs76264143,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:14182,GnomAD_AN_exome:244872,GnomAD_AC_genome:1509,GnomAD_AN_genome:30884,GnomAD:0.0569;SGVEP=AGRN|+|NM_001305275|20|c.3516+10G>C|.|intronic GT:DP:AD:DP4 0/1:100:54,46:29,25,23,23 1 982941 82757956 T C 2689 off_target VARTYPE=1;BGN=0.00142973;ARL=236;DEA=99;QA=36;PBP=1390;PBM=1305;TYPE=SNP;DBXREF=dbSNP:rs3128102,g1000:0.7999,esp5400:0.7642,ExAC:0.8840,clinvar:rs3128102,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:220248,GnomAD_AN_exome:245630,GnomAD_AC_genome:24648,GnomAD_AN_genome:30898,GnomAD:0.8856;SGVEP=AGRN|+|NM_001305275|21|c.3517-12T>C|.|intronic GT:DP:AD:DP4 1/1:95:0,95:0,0,49,46 1 982994 95714 T C 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=231;DEA=114;QA=37;PBP=1690;PBM=1574;TYPE=SNP;DBXREF=dbSNP:rs10267,g1000:0.8359,esp5400:0.7880,ExAC:0.8980,clinvar:rs10267,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:223561,GnomAD_AN_exome:245974,GnomAD_AC_genome:25457,GnomAD_AN_genome:30900,GnomAD:0.8994;SGVEP=AGRN|+|NM_001305275|21|c.3558T>C|p.(Phe1186:)|synonymous GT:DP:AD:DP4 1/1:112:0,112:0,0,58,54 1 984171 82759684 CAG C 480 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=245;DEA=42;QA=69;PBP=180;PBM=300;TYPE=INDEL;DBXREF=dbSNP:rs140904842,g1000:0.9205,GnomAD_AC_genome:11132,GnomAD_AN_genome:25474,GnomAD:0.4370;SGVEP=AGRN|+|NM_001305275|24|c.4106-75_4106-74del|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,6,10 1 984302 95722 T C 1980 PASS VARTYPE=1;BGN=0.00119188;ARL=206;DEA=99;QA=37;PBP=963;PBM=1021;TYPE=SNP;DBXREF=dbSNP:rs9442391,g1000:0.5457,esp5400:0.4597,ExAC:0.5010,clinvar:rs9442391,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:95131,GnomAD_AN_exome:161640,GnomAD_AC_genome:15087,GnomAD_AN_genome:30596,GnomAD:0.5733;SGVEP=AGRN|+|NM_001305275|24|c.4161T>C|p.(Thr1387:)|synonymous GT:DP:AD:DP4 1/1:68:0,68:0,0,33,35 1 985266 82762037 C T 2294 off_target VARTYPE=1;BGN=0.00142973;ARL=227;DEA=102;QA=36;PBP=1192;PBM=1107;TYPE=SNP;DBXREF=dbSNP:rs2275813,g1000:0.4952,esp5400:0.3967,ExAC:0.5350,clinvar:rs2275813,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:131934,GnomAD_AN_exome:236690,GnomAD_AC_genome:13446,GnomAD_AN_genome:30480,GnomAD:0.5441;SGVEP=AGRN|+|NM_001305275|27|c.4745-17C>T|.|intronic GT:DP:AD:DP4 1/1:81:0,81:0,0,42,39 1 985446 82762607 G T 574 off_target VARTYPE=1;BGN=0.00355106;ARL=218;DER=65;DEA=66;QR=14;QA=31;PBP=343;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs2275812,g1000:0.3355,esp5400:0.6186,ExAC:0.4190,clinvar:rs2275812,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:51615,GnomAD_AN_exome:123998,GnomAD_AC_genome:8703,GnomAD_AN_genome:27342,GnomAD:0.3986;SGVEP=AGRN|+|NM_001305275|27|c.4879+29G>T|.|intronic GT:DP:AD:DP4 1/1:25:1,24:0,1,14,10 1 985449 82762687 G A 592 off_target VARTYPE=1;BGN=0.00355106;ARL=222;DER=64;DEA=80;QR=23;QA=31;PBP=392;PBM=215;TYPE=SNP;DBXREF=dbSNP:rs2799067,g1000:0.5256,esp5400:0.9896,ExAC:0.4650,clinvar:rs2799067,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:59915,GnomAD_AN_exome:102602,GnomAD_AC_genome:10660,GnomAD_AN_genome:20018,GnomAD:0.5756;SGVEP=AGRN|+|NM_001305275|27|c.4879+32G>A|.|intronic GT:DP:AD:DP4 1/1:30:4,26:0,4,16,10 1 986443 82764922 C T 2848 off_target VARTYPE=1;BGN=0.00119188;ARL=204;DEA=61;QA=37;PBP=1370;PBM=1486;TYPE=SNP;DBXREF=dbSNP:rs2710887,g1000:0.7885,ExAC:0.8100,GnomAD_AC_exome:129454,GnomAD_AN_exome:144304,GnomAD_AC_genome:24406,GnomAD_AN_genome:30796,GnomAD:0.8787;SGVEP=AGRN|+|NM_001305275|31|c.5265+20C>T|.|intronic GT:DP:AD:DP4 1/1:98:0,98:0,0,47,51 1 987200 95736 C T 1447 PASS VARTYPE=1;BGN=0.00142973;ARL=235;DEA=98;QA=36;PBP=739;PBM=710;TYPE=SNP;DBXREF=dbSNP:rs9803031,g1000:0.7887,esp5400:0.7542,ExAC:0.8750,clinvar:rs9803031,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:217972,GnomAD_AN_exome:245460,GnomAD_AC_genome:24604,GnomAD_AN_genome:30870,GnomAD:0.8778;SGVEP=AGRN|+|NM_001305275|34|c.5663+5C>T|.|intronic GT:DP:AD:DP4 1/1:51:0,51:0,0,26,25 1 988932 82767525 G C 2501 off_target VARTYPE=1;BGN=0.00119188;ARL=232;DEA=66;QA=37;PBP=1225;PBM=1283;TYPE=SNP;DBXREF=dbSNP:rs2710871,g1000:0.7754,GnomAD_AC_genome:23231,GnomAD_AN_genome:30856,GnomAD:0.7529;SGVEP=AGRN|+|NM_001305275|36|c.5720+59G>C|.|intronic GT:DP:AD:DP4 1/1:86:0,86:0,0,42,44 1 990280 95740 C T 10000 PASS VARTYPE=1;BGN=0.00142973;ARL=207;DEA=99;QA=36;PBP=1984;PBM=1927;TYPE=SNP;DBXREF=dbSNP:rs4275402,g1000:0.5853,esp5400:0.5736,ExAC:0.5730,clinvar:rs4275402,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:99844,GnomAD_AN_exome:147566,GnomAD_AC_genome:17983,GnomAD_AN_genome:30810,GnomAD:0.6606;SGVEP=AGRN|+|NM_001305275|39|c.6126C>T|p.(Asp2042:)|synonymous GT:DP:AD:DP4 1/1:138:0,138:0,0,70,68 1 1268847 83014120 T G 2210 off_target VARTYPE=1;BGN=0.00142973;ARL=258;DEA=118;QA=36;PBP=1022;PBM=1192;TYPE=SNP;DBXREF=dbSNP:rs307378,g1000:0.9517,esp5400:0.9769,ExAC:0.9610,GnomAD_AC_exome:226277,GnomAD_AN_exome:235348,GnomAD_AC_genome:29949,GnomAD_AN_genome:30928,GnomAD:0.9623;SGVEP=TAS1R3|+|NM_152228|6|c.1601-39T>G|.|intronic GT:DP:AD:DP4 1/1:78:0,78:0,0,36,42 1 1269554 83017412 T C 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=231;DEA=111;QA=37;PBP=2009;PBM=1980;TYPE=SNP;DBXREF=dbSNP:rs307377,g1000:0.9519,esp5400:0.9768,ExAC:0.9570,PhyloP:-0.6270,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9760,MutationTaster:0.0000,GERP:-0.8390,GnomAD_AC_exome:202121,GnomAD_AN_exome:210460,GnomAD_AC_genome:29946,GnomAD_AN_genome:30930,GnomAD:0.9614;SGVEP=TAS1R3|+|NM_152228|6|c.2269T>C|p.(Cys757Arg)|missense GT:DP:AD:DP4 1/1:137:0,137:0,0,69,68 1 1956362 83625509 G A 2501 off_target VARTYPE=1;BGN=0.00119188;ARL=220;DEA=58;QA=37;PBP=1312;PBM=1196;TYPE=SNP;DBXREF=dbSNP:rs2376805,g1000:0.7756,esp5400:0.8208,ExAC:0.8030,clinvar:rs2376805,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:196633,GnomAD_AN_exome:244680,GnomAD_AC_genome:25120,GnomAD_AN_genome:30912,GnomAD:0.8046;SGVEP=GABRD|+|NM_000815|2|c.69-19G>A|.|intronic GT:DP:AD:DP4 1/1:86:0,86:0,0,45,41 1 1959861 83625995 GC GCC 218 off_target VARTYPE=1;BGN=0.00171504;ARL=252;DER=21;DEA=68;QR=34;QA=35;PBP=87;PBM=136;SP=2;TYPE=INDEL;DBXREF=dbSNP:rs138736063,GnomAD_AC_genome:6934,GnomAD_AN_genome:30118,GnomAD:0.2302;SGVEP=GABRD|+|NM_000815|6|c.691+131dupC|.|intronic GT:DP:AD:DP4 0/1:22:12,10:6,6,4,6 1 1960674 83626058 C T 1091 PASS VARTYPE=1;BGN=0.00119188;ARL=210;DER=68;DEA=65;QR=36;QA=37;PBP=554;PBM=547;TYPE=SNP;DBXREF=dbSNP:rs28408173,g1000:0.1983,esp5400:0.0960,ExAC:0.1570,clinvar:rs28408173,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:34151,GnomAD_AN_exome:177586,GnomAD_AC_genome:4227,GnomAD_AN_genome:30936,GnomAD:0.1840;SGVEP=GABRD|+|NM_000815|7|c.816C>T|p.(Ser272:)|synonymous GT:DP:AD:DP4 0/1:107:59,48:28,31,24,24 1 1960926 83626082 T C 1164 off_target VARTYPE=1;BGN=0.00142973;ARL=233;DEA=42;QA=36;PBP=653;PBM=512;TYPE=SNP;DBXREF=dbSNP:rs28581504,g1000:0.8233,GnomAD_AC_genome:25720,GnomAD_AN_genome:30816,GnomAD:0.8346;SGVEP=GABRD|+|NM_000815|8|c.848-64T>C|.|intronic GT:DP:AD:DP4 1/1:41:0,41:0,0,23,18 1 1961408 83626184 C T 653 off_target VARTYPE=1;BGN=0.00142973;ARL=220;DER=69;DEA=67;QR=35;QA=36;PBP=380;PBM=280;TYPE=SNP;DBXREF=dbSNP:rs28431879,g1000:0.1999,esp5400:0.0920,ExAC:0.1810,clinvar:rs28431879,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:44926,GnomAD_AN_exome:242522,GnomAD_AC_genome:4249,GnomAD_AN_genome:30918,GnomAD:0.1798;SGVEP=GABRD|+|NM_000815|9|c.1060-14C>T|.|intronic GT:DP:AD:DP4 0/1:51:23,28:12,11,16,12 1 1961466 83626200 C T 858 PASS VARTYPE=1;BGN=0.00142973;ARL=211;DER=86;DEA=103;QR=35;QA=36;PBP=483;PBM=384;TYPE=SNP;DBXREF=dbSNP:rs28398772,g1000:0.0391,esp5400:0.0200,ExAC:0.0380,GnomAD_AC_exome:9668,GnomAD_AN_exome:244126,GnomAD_AC_genome:1110,GnomAD_AN_genome:30928,GnomAD:0.0392;SGVEP=GABRD|+|NM_000815|9|c.1104C>T|p.(Ala368:)|synonymous GT:DP:AD:DP4 0/1:77:39,38:20,19,21,17 1 2234632 83773026 G A 490 off_target VARTYPE=1;BGN=0.00142973;ARL=252;DER=91;DEA=117;QR=37;QA=36;PBP=211;PBM=287;TYPE=SNP;DBXREF=dbSNP:rs2279702,g1000:0.1128,GnomAD_AC_genome:4317,GnomAD_AN_genome:30882,GnomAD:0.1398;SGVEP=SKI|+|NM_003036|2|c.1095+90G>A|.|intronic GT:DP:AD:DP4 0/1:60:37,23:19,18,10,13 1 2234903 83773495 C T 474 off_target VARTYPE=1;BGN=0.00142973;ARL=247;DER=36;DEA=45;QR=37;QA=36;PBP=229;PBM=251;TYPE=SNP;DBXREF=dbSNP:rs2256178,g1000:0.2692,GnomAD_AC_genome:6320,GnomAD_AN_genome:30750,GnomAD:0.2055;SGVEP=SKI|+|NM_003036|3|c.1211+64C>T|.|intronic GT:DP:AD:DP4 0/1:44:23,21:11,12,10,11 1 2235656 83774299 G A 108 off_target VARTYPE=1;BGN=0.000993604;ARL=264;DER=59;DEA=99;QR=34;QA=38;PBP=42;PBM=73;SP=5;TYPE=SNP;DBXREF=dbSNP:rs11577387,g1000:0.0984,GnomAD_AC_genome:3492,GnomAD_AN_genome:30876,GnomAD:0.1131;SGVEP=SKI|+|NM_003036|5|c.1475-76G>A|.|intronic GT:DP:AD:DP4 0/1:20:15,5:10,5,2,3 1 2235662 83774303 G A 357 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=264;DER=105;DEA=49;QR=37;QA=36;PBP=211;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs2645073,g1000:0.2905,GnomAD_AC_genome:5874,GnomAD_AN_genome:30812,GnomAD:0.1906;SGVEP=SKI|+|NM_003036|5|c.1475-70G>A|.|intronic GT:DP:AD:DP4 0/1:19:5,14:2,3,8,6 1 2235672 83774317 C T 464 off_target VARTYPE=1;BGN=0.00205729;ARL=265;DER=76;DEA=56;QR=37;QA=34;PBP=270;PBM=198;TYPE=SNP;DBXREF=dbSNP:rs2843159,g1000:0.3498,GnomAD_AC_genome:8256,GnomAD_AN_genome:30824,GnomAD:0.2678;SGVEP=SKI|+|NM_003036|5|c.1475-60C>T|.|intronic GT:DP:AD:DP4 1/1:24:4,19:2,2,11,8 1 2337277 83810711 C T 557 PASS VARTYPE=1;BGN=0.00119188;ARL=227;DER=89;DEA=62;QR=36;QA=37;PBP=310;PBM=255;TYPE=SNP;DBXREF=dbSNP:rs11586985,g1000:0.0809,esp5400:0.0815,ExAC:0.0900,clinvar:rs11586985,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:20724,GnomAD_AN_exome:197528,GnomAD_AC_genome:2751,GnomAD_AN_genome:30948,GnomAD:0.1027;SGVEP=PEX10|-|NM_002617|6|c.913-4G>A|.|intronic GT:DP:AD:DP4 0/1:51:27,24:13,14,13,11 1 2340200 95892 T C 1732 PASS VARTYPE=1;BGN=0.00119188;ARL=222;DER=107;DEA=88;QR=35;QA=37;PBP=896;PBM=851;TYPE=SNP;DBXREF=dbSNP:rs2494598,g1000:0.6989,esp5400:0.7437,ExAC:0.7700,clinvar:rs2494598,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:190153,GnomAD_AN_exome:245574,GnomAD_AC_genome:22742,GnomAD_AN_genome:30794,GnomAD:0.7703;SGVEP=PEX10|-|NM_002617|3|c.291A>G|p.(Thr97:)|synonymous GT:DP:AD:DP4 0/1:175:98,77:45,53,39,38 1 2522392 83960861 G A 526 off_target VARTYPE=1;BGN=0.00119188;ARL=216;DER=54;DEA=59;QR=36;QA=37;PBP=281;PBM=253;TYPE=SNP;DBXREF=dbSNP:rs2296443,g1000:0.1963,esp5400:0.2375,ExAC:0.2310,GnomAD_AC_exome:28439,GnomAD_AN_exome:100752,GnomAD_AC_genome:7519,GnomAD_AN_genome:30848,GnomAD:0.2732;SGVEP=MMEL1|-|NM_033467|24|c.*37C>T|.|3'UTR GT:DP:AD:DP4 0/1:52:29,23:14,15,12,11 1 2528133 83969211 T C 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=229;DEA=57;QA=37;PBP=2443;PBM=2530;TYPE=SNP;DBXREF=dbSNP:rs2843401,g1000:0.5016,esp5400:0.5935,ExAC:0.6100,GnomAD_AC_exome:145857,GnomAD_AN_exome:238850,GnomAD_AC_genome:18197,GnomAD_AN_genome:30670,GnomAD:0.6087;SGVEP=MMEL1|-|NM_033467|14|c.1273-5A>G|.|intronic GT:DP:AD:DP4 1/1:171:0,171:0,0,84,87 1 2529552 83970250 G A 241 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=221;DER=8;DEA=17;QR=37;QA=36;PBP=121;PBM=125;TYPE=SNP;DBXREF=dbSNP:rs112057155,g1000:0.0411,GnomAD_AC_genome:984,GnomAD_AN_genome:30944,GnomAD:0.0318;SGVEP=MMEL1|-|NM_033467|13|c.1272+94C>T|.|intronic GT:DP:AD:DP4 0/1:17:7,10:4,3,5,5 1 2560735 83993239 A G 456 low_coverage;off_target VARTYPE=1;BGN=0.00205729;ARL=247;DEA=34;QA=34;PBP=242;PBM=215;TYPE=SNP;DBXREF=dbSNP:rs4648657,g1000:0.5178,esp5400:0.6423,ExAC:0.4680,GnomAD_AC_exome:65120,GnomAD_AN_exome:109118,GnomAD_AC_genome:18675,GnomAD_AN_genome:30674,GnomAD:0.5994;SGVEP=MMEL1|-|NM_033467|2|c.154+35T>C|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 1 2560818 83993303 CCAG C 183 low_variant_fraction VARTYPE=1;BGN=0.000993604;ARL=222;DER=54;DEA=55;QR=36;QA=109;PBP=94;PBM=94;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs759174446,ExAC:0.0170,GnomAD_AC_exome:1991,GnomAD_AN_exome:91888,GnomAD_AC_genome:7,GnomAD_AN_genome:30318,GnomAD:0.0163;SGVEP=MMEL1|-|NM_033467|2|c.103_105del|p.(Leu35del)|inframe_3 GT:DP:AD:DP4 0/1:72:62,10:31,31,5,5 1 2560882 83993445 G A 2212 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DEA=106;QA=37;PBP=992;PBM=1225;TYPE=SNP;DBXREF=dbSNP:rs4648658,g1000:0.4615,esp5400:0.5886,ExAC:0.5040,GnomAD_AC_exome:78619,GnomAD_AN_exome:134722,GnomAD_AC_genome:16766,GnomAD_AN_genome:30686,GnomAD:0.5767;SGVEP=MMEL1|-|NM_033467|2|c.42C>T|p.(Ala14:)|synonymous GT:DP:AD:DP4 1/1:76:0,76:0,0,34,42 1 2560903 83993497 T G 2153 PASS VARTYPE=1;BGN=0.00142973;ARL=218;DEA=86;QA=36;PBP=1022;PBM=1135;TYPE=SNP;DBXREF=dbSNP:rs4648659,g1000:0.5158,esp5400:0.6371,ExAC:0.5470,GnomAD_AC_exome:76137,GnomAD_AN_exome:126828,GnomAD_AC_genome:18550,GnomAD_AN_genome:30696,GnomAD:0.6011;SGVEP=MMEL1|-|NM_033467|2|c.21A>C|p.(Pro7:)|synonymous GT:DP:AD:DP4 1/1:76:0,76:0,0,36,40 1 2985885 84281321 C G 613 off_target VARTYPE=1;BGN=0.00142973;ARL=175;DER=40;DEA=49;QR=34;QA=36;PBP=272;PBM=347;TYPE=SNP;DBXREF=dbSNP:rs7413494,g1000:0.3602,esp5400:0.2963,ExAC:0.3900,GnomAD_AC_exome:62616,GnomAD_AN_exome:136758,GnomAD_AC_genome:7941,GnomAD_AN_genome:22848,GnomAD:0.4421;SGVEP=PRDM16|+|NM_022114|1|c.37+25C>G|.|intronic GT:DP:AD:DP4 0/1:38:13,25:6,7,11,14 1 3301721 95944 C T 1118 PASS VARTYPE=1;BGN=0.00119188;ARL=216;DER=58;DEA=74;QR=36;QA=37;PBP=589;PBM=540;TYPE=SNP;DBXREF=dbSNP:rs2282198,g1000:0.3405,esp5400:0.2028,ExAC:0.3270,clinvar:rs2282198,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:81951,GnomAD_AN_exome:245930,GnomAD_AC_genome:7562,GnomAD_AN_genome:30912,GnomAD:0.3233;SGVEP=PRDM16|+|NM_022114|4|c.444C>T|p.(Ser148:)|synonymous GT:DP:AD:DP4 0/1:97:49,48:25,24,25,23 1 3301962 84421197 C A 237 off_target VARTYPE=1;BGN=0.00119188;ARL=267;DER=48;DEA=68;QR=37;QA=37;PBP=98;PBM=143;SP=0;TYPE=SNP;DBXREF=dbSNP:rs78743764,g1000:0.0066,GnomAD_AC_genome:388,GnomAD_AN_genome:30942,GnomAD:0.0125;SGVEP=PRDM16|+|NM_022114|4|c.573+112C>A|.|intronic GT:DP:AD:DP4 0/1:21:11,10:4,7,4,6 1 3312963 84424045 C T 293 off_target VARTYPE=1;BGN=0.00119188;ARL=260;DER=90;DEA=52;QR=38;QA=37;PBP=172;PBM=125;TYPE=SNP;DBXREF=dbSNP:rs12726710,g1000:0.0935,GnomAD_AC_genome:4811,GnomAD_AN_genome:30904,GnomAD:0.1557;SGVEP=PRDM16|+|NM_022114|5|c.574-92C>T|.|intronic GT:DP:AD:DP4 0/1:22:10,12:6,4,7,5 1 3313282 84424292 G A 142 low_coverage;off_target VARTYPE=1;BGN=0.00246784;ARL=267;DER=38;DEA=59;QR=38;QA=33;PBP=47;PBM=97;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7535965,g1000:0.2280,GnomAD_AC_genome:10261,GnomAD_AN_genome:30866,GnomAD:0.3324;SGVEP=PRDM16|+|NM_022114|5|c.676+125G>A|.|intronic GT:DP:AD:DP4 0/1:8:2,6:1,1,2,4 1 3319601 84426813 ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG A 201 off_target VARTYPE=1;BGN=0.000993604;ARL=225;DER=33;DEA=111;QR=34;QA=1124;PBP=93;PBM=114;SP=1;NVF=0.60;TYPE=INDEL;DBXREF=dbSNP:rs148238606,g1000:0.3560,ExAC:0.2210,GnomAD_AC_exome:53839,GnomAD_AN_exome:196988,GnomAD_AC_genome:7960,GnomAD_AN_genome:29698,GnomAD:0.2726;SGVEP=PRDM16|+|NM_022114|6|c.884+64_884+94del|.|intronic GT:DP:AD:DP4 0/1:79:66,11:32,34,5,6 1 3319674 84426924 C T 304 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=260;DEA=65;QA=35;PBP=111;PBM=194;NVF=0.93;TYPE=SNP;DBXREF=dbSNP:rs12562397,g1000:0.5623,GnomAD_AC_genome:17157,GnomAD_AN_genome:29990,GnomAD:0.5721;SGVEP=PRDM16|+|NM_022114|6|c.884+112C>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,4,7 1 3319681 84426944 C G 332 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=253;DEA=67;QA=35;PBP=111;PBM=221;NVF=0.93;TYPE=SNP;DBXREF=dbSNP:rs12562399,g1000:0.5621,GnomAD_AC_genome:17143,GnomAD_AN_genome:30440,GnomAD:0.5632;SGVEP=PRDM16|+|NM_022114|6|c.884+119C>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,4,8 1 3328358 95968 T C 2725 PASS VARTYPE=1;BGN=0.00119188;ARL=234;DEA=110;QA=37;PBP=1324;PBM=1411;TYPE=SNP;DBXREF=dbSNP:rs870124,g1000:0.9451,esp5400:0.8793,ExAC:0.8900,PhyloP:1.2900,SIFT:0.4250,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9970,MutationTaster:0.1790,GERP:5.3300,clinvar:rs870124,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:216801,GnomAD_AN_exome:243562,GnomAD_AC_genome:27704,GnomAD_AN_genome:30754,GnomAD:0.8913;SGVEP=PRDM16|+|NM_022114|9|c.1597T>C|p.(Ser533Pro)|missense GT:DP:AD:DP4 1/1:97:0,95:0,0,46,49 1 3328659 95974 C T 1756 PASS VARTYPE=1;BGN=0.00142973;ARL=211;DER=96;DEA=98;QR=35;QA=36;PBP=845;PBM=923;TYPE=SNP;DBXREF=dbSNP:rs2493292,g1000:0.1060,esp5400:0.1502,ExAC:0.1260,PhyloP:1.1530,SIFT:0.9820,PolyPhen2:0.0750,PolyPhen2_HumDiv:0.3210,LRT:0.9930,MutationTaster:0.9030,GERP:4.1800,clinvar:rs2493292,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:27803,GnomAD_AN_exome:225948,GnomAD_AC_genome:4161,GnomAD_AN_genome:30836,GnomAD:0.1245;SGVEP=PRDM16|+|NM_022114|9|c.1898C>T|p.(Pro633Leu)|missense GT:DP:AD:DP4 0/1:129:54,75:27,27,36,39 1 3329384 84441157 C T 1036 off_target VARTYPE=1;BGN=0.00119188;ARL=229;DER=84;DEA=63;QR=37;QA=37;PBP=525;PBM=519;TYPE=SNP;DBXREF=dbSNP:rs2493291,g1000:0.1070,esp5400:0.1380,ExAC:0.0690,clinvar:rs2493291,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:6202,GnomAD_AN_exome:54930,GnomAD_AC_genome:4150,GnomAD_AN_genome:30888,GnomAD:0.1206;SGVEP=PRDM16|+|NM_022114|9|c.2603+20C>T|.|intronic GT:DP:AD:DP4 0/1:55:15,40:7,8,20,20 1 3607532 84634592 G A 969 off_target VARTYPE=1;BGN=0.00119188;ARL=205;DER=66;DEA=81;QR=37;QA=37;PBP=462;PBM=516;TYPE=SNP;DBXREF=dbSNP:rs12122732,g1000:0.0978,esp5400:0.1039,ExAC:0.1110,GnomAD_AC_exome:25156,GnomAD_AN_exome:177490,GnomAD_AC_genome:3482,GnomAD_AN_genome:30922,GnomAD:0.1374;SGVEP=TP73|+|NM_001126240|1|c.39+24G>A|.|intronic GT:DP:AD:DP4 0/1:70:30,40:15,15,19,21 1 3638674 84649484 C T 3233 PASS VARTYPE=1;BGN=0.00119188;ARL=207;DEA=98;QA=37;PBP=1632;PBM=1614;TYPE=SNP;DBXREF=dbSNP:rs1801174,g1000:0.7360,esp5400:0.8478,ExAC:0.8100,GnomAD_AC_exome:197470,GnomAD_AN_exome:245284,GnomAD_AC_genome:25633,GnomAD_AN_genome:30902,GnomAD:0.8078;SGVEP=TP73|+|NM_001126240|3|c.372C>T|p.(Thr124:)|synonymous GT:DP:AD:DP4 1/1:113:0,112:0,0,56,56 1 3638834 84649648 C T 199 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=239;DER=65;DEA=77;QR=38;QA=37;PBP=101;PBM=101;TYPE=SNP;DBXREF=dbSNP:rs12737840,g1000:0.2242,GnomAD_AC_genome:8776,GnomAD_AN_genome:30910,GnomAD:0.2839;SGVEP=TP73|+|NM_001126240|3|c.469+63C>T|.|intronic GT:DP:AD:DP4 0/1:14:6,8:3,3,4,4 1 3640085 84654156 C G 1277 off_target VARTYPE=1;BGN=0.00142973;ARL=214;DEA=52;QA=36;PBP=625;PBM=653;TYPE=SNP;DBXREF=dbSNP:rs6424091,g1000:0.7366,esp5400:0.8398,ExAC:0.7470,GnomAD_AC_exome:143659,GnomAD_AN_exome:187688,GnomAD_AC_genome:24867,GnomAD_AN_genome:30430,GnomAD:0.7726;SGVEP=TP73|+|NM_001126240|4|c.585+52C>G|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,22,23 1 3640134 84654191 TCTGC T 351 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=206;DER=8;DEA=49;QR=31;QA=146;PBP=105;PBM=253;TYPE=INDEL;DBXREF=dbSNP:rs757817816,g1000:0.7135,GnomAD_AC_genome:24229,GnomAD_AN_genome:30630,GnomAD:0.7910;SGVEP=TP73|+|NM_001126240|4|c.585+109_585+112del|.|intronic GT:DP:AD:DP4 0/1:18:5,13:3,2,4,9 1 3644349 84656586 A G 2337 off_target VARTYPE=1;BGN=0.00119188;ARL=231;DER=128;DEA=74;QR=35;QA=37;PBP=1121;PBM=1225;TYPE=SNP;DBXREF=dbSNP:rs2181486,g1000:0.6500,esp5400:0.7921,ExAC:0.6390,GnomAD_AC_exome:86373,GnomAD_AN_exome:125254,GnomAD_AC_genome:22952,GnomAD_AN_genome:30870,GnomAD:0.7002;SGVEP=TP73|+|NM_001126240|6|c.838+15A>G|.|intronic GT:DP:AD:DP4 1/1:82:1,81:1,0,39,42 1 3644374 84656668 A G 1515 off_target VARTYPE=1;BGN=0.00119188;ARL=230;DEA=59;QA=37;PBP=671;PBM=846;TYPE=SNP;DBXREF=dbSNP:rs2146657,g1000:0.6500,esp5400:0.7956,ExAC:0.6390,GnomAD_AC_exome:70604,GnomAD_AN_exome:102966,GnomAD_AC_genome:22921,GnomAD_AN_genome:30838,GnomAD:0.6990;SGVEP=TP73|+|NM_001126240|6|c.838+40A>G|.|intronic GT:DP:AD:DP4 1/1:52:0,52:0,0,23,29 1 3644669 84656928 C T 660 off_target VARTYPE=1;BGN=0.00142973;ARL=222;DER=78;DEA=75;QR=36;QA=36;PBP=335;PBM=332;TYPE=SNP;DBXREF=dbSNP:rs2236367,g1000:0.0723,esp5400:0.0502,ExAC:0.0660,GnomAD_AC_exome:15738,GnomAD_AN_exome:232390,GnomAD_AC_genome:1723,GnomAD_AN_genome:30926,GnomAD:0.0663;SGVEP=TP73|+|NM_001126240|7|c.839-24C>T|.|intronic GT:DP:AD:DP4 0/1:49:21,28:10,11,14,14 1 3644805 84657221 A G 592 off_target VARTYPE=1;BGN=0.00142973;ARL=214;DER=59;DEA=34;QR=36;QA=36;PBP=277;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs2236366,g1000:0.3131,esp5400:0.2553,ExAC:0.1700,GnomAD_AC_exome:37926,GnomAD_AN_exome:237698,GnomAD_AC_genome:7852,GnomAD_AN_genome:30898,GnomAD:0.1704;SGVEP=TP73|+|NM_001126240|7|c.927+24A>G|.|intronic GT:DP:AD:DP4 0/1:52:26,26:12,14,12,14 1 3644858 84657276 G C 155 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=259;DER=94;DEA=19;QR=38;QA=35;PBP=70;PBM=90;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2236365,g1000:0.1925,GnomAD_AC_genome:4905,GnomAD_AN_genome:30928,GnomAD:0.1586;SGVEP=TP73|+|NM_001126240|7|c.927+77G>C|.|intronic GT:DP:AD:DP4 0/1:15:7,7:3,4,3,4 1 3645835 84657935 C A 176 off_target VARTYPE=1;BGN=0.00142973;ARL=237;DER=56;DEA=58;QR=36;QA=36;PBP=102;PBM=80;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2254530,g1000:0.3982,GnomAD_AC_genome:16593,GnomAD_AN_genome:30768,GnomAD:0.5393;SGVEP=TP73|+|NM_001126240|8|c.928-56C>A|.|intronic GT:DP:AD:DP4 0/1:36:27,9:14,13,5,4 1 3645844 84657966 G A 238 off_target VARTYPE=1;BGN=0.00171504;ARL=236;DER=58;DEA=65;QR=37;QA=35;PBP=123;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs2096224,g1000:0.5397,esp5400:0.6719,ExAC:0.6680,GnomAD_AC_exome:162283,GnomAD_AN_exome:243262,GnomAD_AC_genome:20240,GnomAD_AN_genome:30776,GnomAD:0.6660;SGVEP=TP73|+|NM_001126240|8|c.928-47G>A|.|intronic GT:DP:AD:DP4 0/1:38:26,12:12,14,6,6 1 5925371 86029571 G A 797 off_target VARTYPE=1;BGN=0.00119188;ARL=227;DER=46;DEA=54;QR=35;QA=37;PBP=316;PBM=489;TYPE=SNP;DBXREF=dbSNP:rs1287634,g1000:0.3179,esp5400:0.3383,ExAC:0.3130,clinvar:rs1287634,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:46758,GnomAD_AN_exome:119968,GnomAD_AC_genome:11065,GnomAD_AN_genome:30886,GnomAD:0.3833;SGVEP=NPHP4|-|NM_001291593|24|c.2106-38C>T|.|intronic GT:DP:AD:DP4 0/1:59:26,33:11,15,13,20 1 5926507 96040 T C 158 PASS VARTYPE=1;BGN=0.00119188;ARL=212;DER=79;DEA=53;QR=38;QA=37;PBP=82;PBM=81;SP=0;TYPE=SNP;DBXREF=dbSNP:rs555164,g1000:0.3197,esp5400:0.3506,ExAC:0.3750,clinvar:rs555164,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:86834,GnomAD_AN_exome:220672,GnomAD_AC_genome:11094,GnomAD_AN_genome:30886,GnomAD:0.3893;SGVEP=NPHP4|-|NM_001291593|23|c.2031A>G|p.(Glu677:)|synonymous GT:DP:AD:DP4 0/1:37:29,8:14,15,4,4 1 5934490 86040295 A G 783 off_target VARTYPE=1;BGN=0.00119188;ARL=240;DER=56;DEA=64;QR=35;QA=37;PBP=409;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs868163,g1000:0.5693,esp5400:0.6712,ExAC:0.4600,clinvar:rs868163,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:58191,GnomAD_AN_exome:98786,GnomAD_AC_genome:19825,GnomAD_AN_genome:30730,GnomAD:0.6024;SGVEP=NPHP4|-|NM_001291593|19|c.1692+41T>C|.|intronic GT:DP:AD:DP4 0/1:47:16,31:8,8,16,15 1 5934500 86040325 T C 856 off_target VARTYPE=1;BGN=0.00119188;ARL=239;DER=60;DEA=68;QR=37;QA=37;PBP=432;PBM=432;TYPE=SNP;DBXREF=dbSNP:rs905467,g1000:0.2712,esp5400:0.1759,ExAC:0.1850,clinvar:rs905467,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:29637,GnomAD_AN_exome:108648,GnomAD_AC_genome:6635,GnomAD_AN_genome:30848,GnomAD:0.2600;SGVEP=NPHP4|-|NM_001291593|19|c.1692+31A>G|.|intronic GT:DP:AD:DP4 0/1:52:18,34:9,9,17,17 1 5934837 86041401 C T 215 off_target VARTYPE=1;BGN=0.000993604;ARL=268;DER=132;DEA=71;QR=37;QA=38;PBP=121;PBM=99;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1287638,g1000:0.4050,GnomAD_AC_genome:15989,GnomAD_AN_genome:30698,GnomAD:0.5208;SGVEP=NPHP4|-|NM_001291593|18|c.1505+97G>A|.|intronic GT:DP:AD:DP4 0/1:21:12,9:7,5,5,4 1 5935162 96063 A T 1603 PASS VARTYPE=1;BGN=0.00142973;ARL=216;DER=75;DEA=63;QR=36;QA=36;PBP=794;PBM=822;TYPE=SNP;DBXREF=dbSNP:rs1287637,g1000:0.8433,esp5400:0.8445,ExAC:0.8250,PhyloP:0.7450,MutationTaster:1.0000,GERP:4.9300,clinvar:rs1287637,CLNSIG:Benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:183623,GnomAD_AN_exome:221858,GnomAD_AC_genome:26620,GnomAD_AN_genome:30898,GnomAD:0.8318;SGVEP=NPHP4|-|NM_001291593|18|c.1279-2T>A|p.(?)|splice_acceptor_-2 GT:DP:AD:DP4 0/1:131:61,70:27,34,34,36 1 5937091 86044177 T C 248 off_target VARTYPE=1;BGN=0.00171504;ARL=235;DER=57;DEA=22;QR=36;QA=35;PBP=137;PBM=117;TYPE=SNP;DBXREF=dbSNP:rs1622955,g1000:0.9042,GnomAD_AC_genome:28528,GnomAD_AN_genome:30946,GnomAD:0.9219;SGVEP=NPHP4|-|NM_001291593|17|c.1278+62A>G|.|intronic GT:DP:AD:DP4 0/1:47:34,13:18,16,7,6 1 5937168 96068 G A 922 PASS VARTYPE=1;BGN=0.00119188;ARL=221;DER=109;DEA=59;QR=36;QA=37;PBP=501;PBM=431;TYPE=SNP;DBXREF=dbSNP:rs3747992,g1000:0.4535,esp5400:0.3528,ExAC:0.4130,clinvar:rs3747992,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:98910,GnomAD_AN_exome:230624,GnomAD_AC_genome:11604,GnomAD_AN_genome:30886,GnomAD:0.4226;SGVEP=NPHP4|-|NM_001291593|17|c.1263C>T|p.(Arg421:)|synonymous GT:DP:AD:DP4 0/1:96:55,41:29,26,22,19 1 5937391 86045335 C T 216 off_target VARTYPE=1;BGN=0.00119188;ARL=237;DER=68;DEA=113;QR=37;QA=37;PBP=101;PBM=121;TYPE=SNP;DBXREF=dbSNP:rs3747989,g1000:0.8327,esp5400:0.8528,ExAC:0.7780,clinvar:rs3747989,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:151455,GnomAD_AN_exome:190502,GnomAD_AC_genome:25628,GnomAD_AN_genome:30930,GnomAD:0.7997;SGVEP=NPHP4|-|NM_001291593|17|c.1073-33G>A|.|intronic GT:DP:AD:DP4 0/1:50:39,11:18,21,5,6 1 5937413 86045370 A C 206 off_target VARTYPE=1;BGN=0.00119188;ARL=244;DER=58;DEA=92;QR=36;QA=37;PBP=107;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs3747988,g1000:0.4716,GnomAD_AC_genome:11988,GnomAD_AN_genome:30898,GnomAD:0.3880;SGVEP=NPHP4|-|NM_001291593|17|c.1073-55T>G|.|intronic GT:DP:AD:DP4 0/1:38:28,10:13,15,5,5 1 6007446 86114173 C T 313 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=273;DEA=32;QA=36;PBP=142;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs551207,g1000:0.8083,GnomAD_AC_genome:26527,GnomAD_AN_genome:30934,GnomAD:0.8575;SGVEP=NPHP4|-|NM_001291593|8|c.-374-156G>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 1 6038583 86133060 G C 122 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=259;DER=24;DEA=17;QR=34;QA=37;PBP=51;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4908639,g1000:0.8389,GnomAD_AC_genome:25781,GnomAD_AN_genome:30806,GnomAD:0.8369;SGVEP=NPHP4|-|NM_001291593|3|c.-1094-110C>G|.|intronic GT:DP:AD:DP4 0/1:10:5,5:2,3,2,3 1 6046432 86136314 C G 440 off_target VARTYPE=1;BGN=0.000993604;ARL=260;DER=49;DEA=59;QR=34;QA=38;PBP=226;PBM=220;TYPE=SNP;DBXREF=dbSNP:rs1295111,g1000:0.3878,GnomAD_AC_genome:12700,GnomAD_AN_genome:30842,GnomAD:0.4118;SGVEP=NPHP4|-|NM_001291593|2|c.-1267-45G>C|.|intronic GT:DP:AD:DP4 0/1:36:18,18:8,10,9,9 1 6100757 86189426 G A 445 off_target VARTYPE=1;BGN=0.00142973;ARL=237;DER=93;DEA=72;QR=31;QA=36;PBP=171;PBM=281;TYPE=SNP;DBXREF=dbSNP:rs753537552,ExAC:0.0000,GnomAD_AC_exome:6,GnomAD_AN_exome:215738,GnomAD_AC_genome:3,GnomAD_AN_genome:30940,GnomAD:0.0000;SGVEP=KCNAB2|+|NM_001199860|2|c.77+52G>A|.|intronic GT:DP:AD:DP4 1/1:21:4,17:0,4,6,11 1 6142308 86214332 T C 866 PASS VARTYPE=1;BGN=0.00142973;ARL=211;DER=95;DEA=84;QR=37;QA=36;PBP=424;PBM=451;TYPE=SNP;DBXREF=dbSNP:rs2227911,g1000:0.0966,esp5400:0.1296,ExAC:0.0900,GnomAD_AC_exome:21273,GnomAD_AN_exome:246196,GnomAD_AC_genome:3672,GnomAD_AN_genome:30888,GnomAD:0.0900;SGVEP=KCNAB2|+|NM_001199860|6|c.255T>C|p.(Asp85:)|synonymous GT:DP:AD:DP4 0/1:84:45,39:23,22,19,20 1 6145365 86218271 A G 494 off_target VARTYPE=1;BGN=0.00142973;ARL=240;DER=74;DEA=71;QR=35;QA=36;PBP=254;PBM=246;TYPE=SNP;DBXREF=dbSNP:rs2294936,g1000:0.6865,esp5400:0.6902,GnomAD_AC_genome:21668,GnomAD_AN_genome:30908,GnomAD:0.7010;SGVEP=KCNAB2|+|NM_001199860|7|c.326+57A>G|.|intronic GT:DP:AD:DP4 0/1:47:25,22:11,14,11,11 1 6147407 86219932 C T 298 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=259;DER=52;DEA=42;QR=35;QA=36;PBP=151;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs4908763,g1000:0.1494,GnomAD_AC_genome:4638,GnomAD_AN_genome:30890,GnomAD:0.1501;SGVEP=KCNAB2|+|NM_001199860|8|c.327-120C>T|.|intronic GT:DP:AD:DP4 0/1:18:6,12:3,3,6,6 1 6154417 86225126 C T 259 off_target VARTYPE=1;BGN=0.00171504;ARL=224;DER=44;DEA=67;QR=35;QA=35;PBP=155;PBM=109;TYPE=SNP;DBXREF=dbSNP:rs2294932,g1000:0.2310,esp5400:0.2013,ExAC:0.2050,GnomAD_AC_exome:44967,GnomAD_AN_exome:188266,GnomAD_AC_genome:7203,GnomAD_AN_genome:30900,GnomAD:0.2380;SGVEP=KCNAB2|+|NM_001199860|11|c.503-43C>T|.|intronic GT:DP:AD:DP4 0/1:27:15,12:8,7,7,5 1 6155332 86225963 T C 639 off_target VARTYPE=1;BGN=0.00119188;ARL=235;DER=57;DEA=43;QR=34;QA=37;PBP=346;PBM=302;TYPE=SNP;DBXREF=dbSNP:rs1555144,g1000:0.7272,esp5400:0.7830,ExAC:0.6590,GnomAD_AC_exome:114388,GnomAD_AN_exome:161216,GnomAD_AC_genome:23876,GnomAD_AN_genome:30852,GnomAD:0.7199;SGVEP=KCNAB2|+|NM_001199860|12|c.589-51T>C|.|intronic GT:DP:AD:DP4 0/1:63:35,28:19,16,15,13 1 6157221 86240447 C T 159 low_coverage;off_target VARTYPE=1;BGN=0.00205729;ARL=276;DER=60;DEA=40;QR=33;QA=34;PBP=92;PBM=71;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2235791,g1000:0.1168,GnomAD_AC_genome:3778,GnomAD_AN_genome:30896,GnomAD:0.1223;SGVEP=KCNAB2|+|NM_001199860|15|c.926-108C>T|.|intronic GT:DP:AD:DP4 0/1:12:5,7:3,2,4,3 1 6157434 86240470 C T 642 off_target VARTYPE=1;BGN=0.00119188;ARL=222;DER=56;DEA=51;QR=34;QA=37;PBP=325;PBM=325;TYPE=SNP;DBXREF=dbSNP:rs2311802,g1000:0.4541,esp5400:0.5715,ExAC:0.3570,GnomAD_AC_exome:69604,GnomAD_AN_exome:148776,GnomAD_AC_genome:16423,GnomAD_AN_genome:30824,GnomAD:0.4790;SGVEP=KCNAB2|+|NM_001199860|15|c.1014+17C>T|.|intronic GT:DP:AD:DP4 0/1:62:34,28:17,17,14,14 1 6158562 86240560 A G 525 PASS VARTYPE=1;BGN=0.00119188;ARL=210;DER=68;DEA=83;QR=37;QA=37;PBP=263;PBM=269;TYPE=SNP;DBXREF=dbSNP:rs2229002,g1000:0.5439,esp5400:0.6154,ExAC:0.5740,GnomAD_AC_exome:140604,GnomAD_AN_exome:244742,GnomAD_AC_genome:18766,GnomAD_AN_genome:30834,GnomAD:0.5783;SGVEP=KCNAB2|+|NM_001199860|16|c.1032A>G|p.(Ser344:)|synonymous GT:DP:AD:DP4 0/1:65:41,24:22,19,12,12 1 6500608 86495716 C G 386 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=199;DER=28;DEA=51;QR=20;QA=36;PBP=370;PBM=25;SP=9;TYPE=SNP;DBXREF=dbSNP:rs200448900;SGVEP=ESPN|+|NM_031475|4|c.676-78C>G|.|intronic GT:DP:AD:DP4 1/1:15:1,14:0,1,13,1 1 6500610 661376539 A C 366 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=199;DEA=53;QA=35;PBP=348;PBM=25;SP=6;TYPE=SNP;DBXREF=dbSNP:rs987553781;SGVEP=ESPN|+|NM_031475|4|c.676-76A>C|.|intronic GT:DP:AD:DP4 1/1:16:0,14:0,0,13,1 1 6500611 . C A 400 low_coverage;off_target VARTYPE=1;BGN=0.00205729;ARL=206;DEA=48;QA=34;PBP=376;PBM=54;TYPE=SNP;SGVEP=ESPN|+|NM_031475|4|c.676-75C>A|.|intronic GT:DP:AD:DP4 1/1:19:0,16:0,0,14,2 1 6500626 86495739 CGGG CGGGG 585 off_target VARTYPE=1;BGN=0.017189;ARL=207;DEA=38;QA=33;HL=3;PBP=406;PBM=183;TYPE=INDEL;DBXREF=dbSNP:rs371548369,g1000:1.0000,GnomAD_AC_genome:21218,GnomAD_AN_genome:21914,GnomAD:0.9682;SGVEP=ESPN|+|NM_031475|4|c.676-57dupG|.|intronic GT:DP:AD:DP4 1/1:35:0,34:0,0,23,11 1 6500833 86495964 C G 128 low_variant_fraction VARTYPE=1;BGN=0.000993604;ARL=214;DER=100;DEA=65;QR=34;QA=38;PBP=67;PBM=66;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3817921,PhyloP:1.9890,SIFT:0.8420,PolyPhen2:0.0210,PolyPhen2_HumDiv:0.0100,LRT:0.9690,MutationTaster:1.0000,GERP:3.8400;SGVEP=ESPN|+|NM_031475|4|c.823C>G|p.(Pro275Ala)|missense GT:DP:AD:DP4 0/1:99:91,8:44,47,4,4 1 6500839 86495978 C T 131 low_variant_fraction VARTYPE=1;BGN=0.000993604;ARL=216;DER=104;DEA=59;QR=33;QA=38;PBP=68;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3817920,PhyloP:1.9890,SIFT:0.9350,PolyPhen2:0.0070,PolyPhen2_HumDiv:0.0020,LRT:0.9920,MutationTaster:1.0000,GERP:3.8400;SGVEP=ESPN|+|NM_031475|4|c.829C>T|p.(His277Tyr)|missense GT:DP:AD:DP4 0/1:92:84,8:43,41,4,4 1 6500867 86495994 A G 126 low_variant_fraction VARTYPE=1;BGN=0.00119188;ARL=216;DER=107;DEA=31;QR=33;QA=37;PBP=66;PBM=66;SP=0;TYPE=SNP;DBXREF=dbSNP:rs397840482,ExAC:0.0002,PhyloP:1.6170,SIFT:0.9960,PolyPhen2:0.0150,PolyPhen2_HumDiv:0.0050,LRT:0.9580,MutationTaster:1.0000,GERP:3.8400;SGVEP=ESPN|+|NM_031475|4|c.857A>G|p.(Glu286Gly)|missense GT:DP:AD:DP4 0/1:87:79,8:39,40,4,4 1 6520312 86503250 C T 428 off_target VARTYPE=1;BGN=0.00142973;ARL=263;DER=55;DEA=47;QR=30;QA=36;PBP=178;PBM=254;TYPE=SNP;DBXREF=dbSNP:rs3138158,g1000:0.0292,GnomAD_AC_genome:1524,GnomAD_AN_genome:30870,GnomAD:0.0494;SGVEP=ESPN|+|NM_031475|13|c.*106C>T|.|3'UTR GT:DP:AD:DP4 0/1:24:7,17:3,4,7,10 1 6530965 86546182 CGGG CGGGG 1733 off_target VARTYPE=1;BGN=0.017189;ARL=224;DER=55;DEA=103;QR=34;QA=35;HL=3;PBP=839;PBM=900;TYPE=INDEL;DBXREF=dbSNP:rs112662590,g1000:1.0000,ExAC:1.0000,GnomAD_AC_exome:148001,GnomAD_AN_exome:148004,GnomAD_AC_genome:30575,GnomAD_AN_genome:30576,GnomAD:1.0000;SGVEP=PLEKHG5|-|NM_001042663|15|c.1561-22dupC|.|intronic GT:DP:AD:DP4 1/1:106:4,102:3,1,50,52 1 6579607 86577953 C T 771 off_target VARTYPE=1;BGN=0.00119188;ARL=209;DER=43;DEA=52;QR=37;QA=37;PBP=377;PBM=403;TYPE=SNP;DBXREF=dbSNP:rs1556035,g1000:0.7460,esp5400:0.7741,ExAC:0.8510,clinvar:rs1556035,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:211381,GnomAD_AN_exome:245896,GnomAD_AC_genome:24193,GnomAD_AN_genome:30918,GnomAD:0.8510;SGVEP=PLEKHG5|-|NM_198681|1|c.-36G>A|.|5'UTR GT:DP:AD:DP4 0/1:67:34,33:17,17,16,17 1 6579653 86577978 G C 213 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=245;DER=70;DEA=48;QR=38;QA=37;PBP=96;PBM=122;SP=0;TYPE=SNP;DBXREF=dbSNP:rs41278014,g1000:0.1717,GnomAD_AC_genome:4646,GnomAD_AN_genome:30910,GnomAD:0.1503;SGVEP=PLEKHG5|-|NM_198681|1|c.-82C>G|.|5'UTR GT:DP:AD:DP4 0/1:19:10,9:5,5,4,5 1 6615690 86619573 A G 289 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=238;DER=63;DEA=36;QR=38;QA=35;PBP=121;PBM=173;TYPE=SNP;DBXREF=dbSNP:rs925745,g1000:0.7246,GnomAD_AC_genome:23515,GnomAD_AN_genome:30720,GnomAD:0.7655;SGVEP=TAS1R1|+|NM_138697|1|c.191+66A>G|.|intronic GT:DP:AD:DP4 0/1:18:6,12:3,3,5,7 1 6615695 86619584 C T 272 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=238;DER=58;DEA=31;QR=38;QA=36;PBP=125;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs925744,g1000:0.7384,GnomAD_AC_genome:23868,GnomAD_AN_genome:30734,GnomAD:0.7766;SGVEP=TAS1R1|+|NM_138697|1|c.191+71C>T|.|intronic GT:DP:AD:DP4 0/1:17:6,11:3,3,5,6 1 6631319 86630726 G A 1162 off_target VARTYPE=1;BGN=0.00142973;ARL=238;DEA=64;QA=36;PBP=540;PBM=653;TYPE=SNP;DBXREF=dbSNP:rs11122096,g1000:0.8886,esp5400:0.9014,ExAC:0.9530,GnomAD_AC_exome:165301,GnomAD_AN_exome:173398,GnomAD_AC_genome:28012,GnomAD_AN_genome:30896,GnomAD:0.9462;SGVEP=TAS1R1|+|NM_138697|2|c.498+44G>A|.|intronic GT:DP:AD:DP4 1/1:44:0,42:0,0,19,23 1 6631352 86630772 TCCCCCCC TCCCCCC 311 off_target VARTYPE=1;BGN=0.0382061;ARL=244;DER=1;DEA=62;QR=34;QA=37;HL=7;PBP=127;PBM=186;TYPE=INDEL;DBXREF=dbSNP:rs796989656,g1000:0.8972,GnomAD_AC_genome:28096,GnomAD_AN_genome:30846,GnomAD:0.9108;SGVEP=TAS1R1|+|NM_138697|2|c.498+84del|.|intronic GT:DP:AD:DP4 1/1:24:1,23:0,1,9,14 1 6635231 86634093 A G 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=227;DEA=112;QA=37;PBP=2009;PBM=2038;TYPE=SNP;DBXREF=dbSNP:rs10864628,g1000:0.9233,esp5400:0.9201,ExAC:0.9770,PhyloP:-0.2140,SIFT:0.0580,PolyPhen2:0.0280,PolyPhen2_HumDiv:0.0560,LRT:0.5830,MutationTaster:0.0000,GERP:-0.4610,GnomAD_AC_exome:224281,GnomAD_AN_exome:228592,GnomAD_AC_genome:28797,GnomAD_AN_genome:30924,GnomAD:0.9752;SGVEP=TAS1R1|+|NM_138697|3|c.1039A>G|p.(Lys347Glu)|missense GT:DP:AD:DP4 1/1:139:0,139:0,0,69,70 1 6637171 86636873 G A 1092 off_target VARTYPE=1;BGN=0.00119188;ARL=229;DER=57;DEA=52;QR=37;QA=37;PBP=513;PBM=584;TYPE=SNP;DBXREF=dbSNP:rs12040340,g1000:0.1232,esp5400:0.1033,ExAC:0.1150,GnomAD_AC_exome:27325,GnomAD_AN_exome:242744,GnomAD_AC_genome:3331,GnomAD_AN_genome:30908,GnomAD:0.1120;SGVEP=TAS1R1|+|NM_138697|5|c.1594+41G>A|.|intronic GT:DP:AD:DP4 1/1:39:1,38:1,0,18,20 1 6638842 86638154 CGCT C 102 low_variant_fraction VARTYPE=1;BGN=0.000993604;ARL=215;DER=100;DEA=69;QR=36;QA=111;PBP=54;PBM=54;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs780833927,GnomAD_AC_exome:67,GnomAD_AN_exome:238830,GnomAD_AC_genome:0,GnomAD_AN_genome:30912,GnomAD:0.0002;SGVEP=TAS1R1|+|NM_138697|6|c.1743_1745del|p.(Leu582del)|inframe_3 GT:DP:AD:DP4 0/1:206:195,8:99,96,4,4 1 7151479 86954092 T C 488 off_target VARTYPE=1;BGN=0.000993604;ARL=209;DER=56;DEA=60;QR=38;QA=38;PBP=247;PBM=247;TYPE=SNP;DBXREF=dbSNP:rs72640073,g1000:0.1074,esp5400:0.1275,ExAC:0.1410,GnomAD_AC_exome:35255,GnomAD_AN_exome:242410,GnomAD_AC_genome:3644,GnomAD_AN_genome:30960,GnomAD:0.1423;SGVEP=CAMTA1|+|NM_015215|4|c.302+48T>C|.|intronic GT:DP:AD:DP4 0/1:24:6,18:3,3,9,9 1 7527824 87143279 C T 361 off_target VARTYPE=1;BGN=0.00142973;ARL=250;DER=39;DEA=38;QR=37;QA=36;PBP=196;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs72642857,g1000:0.0575,GnomAD_AC_genome:988,GnomAD_AN_genome:30938,GnomAD:0.0319;SGVEP=CAMTA1|+|NM_015215|6|c.439-66C>T|.|intronic GT:DP:AD:DP4 0/1:25:10,15:5,5,8,7 1 7527996 87143365 T C 202 off_target VARTYPE=1;BGN=0.00142973;ARL=238;DER=87;DEA=86;QR=36;QA=36;PBP=104;PBM=103;TYPE=SNP;DBXREF=dbSNP:rs1201529,g1000:0.4641,esp5400:0.6059,ExAC:0.4980,GnomAD_AC_exome:119572,GnomAD_AN_exome:245330,GnomAD_AC_genome:16973,GnomAD_AN_genome:30848,GnomAD:0.4944;SGVEP=CAMTA1|+|NM_015215|6|c.510+35T>C|.|intronic GT:DP:AD:DP4 0/1:35:25,10:12,13,5,5 1 7737799 87274486 A G 2646 off_target VARTYPE=1;BGN=0.00119188;ARL=203;DEA=56;QA=37;PBP=1312;PBM=1341;TYPE=SNP;DBXREF=dbSNP:rs3011926,g1000:0.5917,esp5400:0.5599,ExAC:0.5480,GnomAD_AC_exome:133782,GnomAD_AN_exome:244478,GnomAD_AC_genome:16860,GnomAD_AN_genome:30892,GnomAD:0.5471;SGVEP=CAMTA1|+|NM_015215|11|c.2914+6A>G|.|intronic GT:DP:AD:DP4 1/1:91:0,91:0,0,45,46 1 7797734 87305997 T A 161 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=270;DER=24;DEA=23;QR=31;QA=36;PBP=72;PBM=93;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1417986,g1000:0.5992,GnomAD_AC_genome:19091,GnomAD_AN_genome:30908,GnomAD:0.6177;SGVEP=CAMTA1|+|NM_015215|15|c.3658+104T>A|.|intronic GT:DP:AD:DP4 0/1:15:8,7:3,5,3,4 1 7811215 87325412 A G 292 off_target VARTYPE=1;BGN=0.00171504;ARL=218;DER=30;DEA=69;QR=38;QA=35;PBP=161;PBM=136;TYPE=SNP;DBXREF=dbSNP:rs10779689,g1000:0.6160,esp5400:0.6835,ExAC:0.6710,GnomAD_AC_exome:129719,GnomAD_AN_exome:190372,GnomAD_AC_genome:20986,GnomAD_AN_genome:30904,GnomAD:0.6811;SGVEP=CAMTA1|+|NM_015215|20|c.4690-44A>G|.|intronic GT:DP:AD:DP4 0/1:25:12,13:6,6,7,6 1 7998963 87473301 T G 450 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=236;DEA=37;QA=38;PBP=240;PBM=210;TYPE=SNP;DBXREF=dbSNP:rs226476,g1000:0.9880,GnomAD_AC_genome:29929,GnomAD_AN_genome:30984,GnomAD:0.9660;SGVEP=TNFRSF9|-|NM_001561|4|c.101-75A>C|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 1 8029494 87540286 T G 202 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=217;DER=46;DEA=51;QR=34;QA=38;PBP=102;PBM=105;TYPE=SNP;DBXREF=dbSNP:rs2641116,g1000:0.3161,esp5400:0.1969,ExAC:0.2400,GnomAD_AC_exome:60519,GnomAD_AN_exome:230134,GnomAD_AC_genome:7544,GnomAD_AN_genome:29078,GnomAD:0.2626;SGVEP=PARK7|+|NM_001123377|4|c.252+30T>G|.|intronic GT:DP:AD:DP4 0/1:15:7,8:4,3,4,4 1 8029509 87540356 G A 126 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=225;DER=21;DEA=53;QR=33;QA=38;PBP=52;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2640906,g1000:0.3323,GnomAD_AC_exome:55981,GnomAD_AN_exome:220590,GnomAD_AC_genome:7939,GnomAD_AN_genome:29944,GnomAD:0.2551;SGVEP=PARK7|+|NM_001123377|4|c.252+45G>A|.|intronic GT:DP:AD:DP4 0/1:10:5,5:2,3,2,3 1 8029510 87540385 G A 144 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=225;DER=20;DEA=51;QR=31;QA=36;PBP=75;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2641117,g1000:0.4686,esp5400:0.0292,ExAC:0.2780,GnomAD_AC_exome:62596,GnomAD_AN_exome:213688,GnomAD_AC_genome:11736,GnomAD_AN_genome:29810,GnomAD:0.3053;SGVEP=PARK7|+|NM_001123377|4|c.252+46G>A|.|intronic GT:DP:AD:DP4 0/1:11:5,6:2,3,3,3 1 8037888 . T C 105 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=254;DER=18;DEA=39;QR=38;QA=35;PBP=44;PBM=66;SP=0;TYPE=SNP;SGVEP=PARK7|+|NM_001123377|6|c.409+90T>C|.|intronic GT:DP:AD:DP4 0/1:14:9,5:4,5,2,3 1 8037893 . T C 119 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=254;DER=13;DEA=34;QR=35;QA=38;PBP=50;PBM=73;SP=0;TYPE=SNP;SGVEP=PARK7|+|NM_001123377|6|c.409+95T>C|.|intronic GT:DP:AD:DP4 0/1:13:8,5:3,5,2,3 1 9305445 88274530 A C 1462 PASS VARTYPE=1;BGN=0.00119188;ARL=213;DER=101;DEA=106;QR=37;QA=37;PBP=699;PBM=776;TYPE=SNP;DBXREF=dbSNP:rs34603401,g1000:0.0761,esp5400:0.1096,ExAC:0.1200,PhyloP:2.1340,SIFT:0.9590,PolyPhen2:0.3380,PolyPhen2_HumDiv:0.6980,LRT:1.0000,MutationTaster:1.0000,GERP:4.1700,GnomAD_AC_exome:29168,GnomAD_AN_exome:245958,GnomAD_AC_genome:3232,GnomAD_AN_genome:30914,GnomAD:0.1170;SGVEP=H6PD|+|NM_001282587|2|c.485A>C|p.(Asp162Ala)|missense GT:DP:AD:DP4 0/1:149:84,65:42,42,31,34 1 9323910 96211 G A 1818 PASS VARTYPE=1;BGN=0.00119188;ARL=222;DER=95;DEA=102;QR=37;QA=37;PBP=893;PBM=939;TYPE=SNP;DBXREF=dbSNP:rs6688832,g1000:0.3896,esp5400:0.3089,ExAC:0.2840,PhyloP:-0.5300,SIFT:0.4270,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:0.8490,MutationTaster:0.0000,GERP:-2.1200,clinvar:rs6688832,CLNSIG:Uncertain_significance,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:69627,GnomAD_AN_exome:245712,GnomAD_AC_genome:9569,GnomAD_AN_genome:30866,GnomAD:0.2863;SGVEP=H6PD|+|NM_001282587|5|c.1391G>A|p.(Arg464Gln)|missense GT:DP:AD:DP4 0/1:136:60,76:29,31,37,39 1 9770690 88518703 C CAG 102 low_variant_fraction;off_target VARTYPE=1;BGN=0.000993604;ARL=229;DER=51;DEA=66;QR=36;QA=76;PBP=53;PBM=54;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs757677764,ExAC:0.2540,GnomAD_AC_genome:8641,GnomAD_AN_genome:28418,GnomAD:0.3041;SGVEP=PIK3CD|+|NM_005026|3|c.141+58_141+59dup|.|intronic GT:DP:AD:DP4 0/1:63:47,6:24,23,3,3 1 9770690 88518714 CAG C 189 off_target VARTYPE=1;BGN=0.000993604;ARL=229;DER=51;DEA=62;QR=36;QA=70;PBP=97;PBM=98;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs778274430,ExAC:0.1640,GnomAD_AC_genome:180,GnomAD_AN_genome:28418,GnomAD:0.0063;SGVEP=PIK3CD|+|NM_005026|3|c.141+58_141+59del|.|intronic GT:DP:AD:DP4 0/1:63:47,10:24,23,5,5 1 9779871 88521258 T C 363 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=252;DER=36;DEA=30;QR=37;QA=36;PBP=238;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs9430220,g1000:0.4732,GnomAD_AC_genome:11832,GnomAD_AN_genome:30650,GnomAD:0.3860;SGVEP=PIK3CD|+|NM_005026|10|c.1243-108T>C|.|intronic GT:DP:AD:DP4 1/1:18:4,14:2,2,9,5 1 10338204 88899370 C T 1020 off_target VARTYPE=1;BGN=0.00119188;ARL=231;DER=62;DEA=51;QR=36;QA=37;PBP=514;PBM=514;TYPE=SNP;DBXREF=dbSNP:rs41274456,g1000:0.0146,esp5400:0.0309,ExAC:0.0330,clinvar:rs41274456,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:8051,GnomAD_AN_exome:246104,GnomAD_AC_genome:1063,GnomAD_AN_genome:30956,GnomAD:0.0329;SGVEP=KIF1B|+|NM_015074|12|c.1162+18C>T|.|intronic GT:DP:AD:DP4 0/1:58:18,40:9,9,20,20 1 10342629 88900744 G A 714 off_target VARTYPE=1;BGN=0.00119188;ARL=234;DER=79;DEA=50;QR=38;QA=37;PBP=346;PBM=374;TYPE=SNP;DBXREF=dbSNP:rs3748576,g1000:0.7127,esp5400:0.7112,ExAC:0.6430,GnomAD_AC_exome:157729,GnomAD_AN_exome:244840,GnomAD_AC_genome:21855,GnomAD_AN_genome:30926,GnomAD:0.6512;SGVEP=KIF1B|+|NM_015074|13|c.1296+38G>A|.|intronic GT:DP:AD:DP4 1/1:35:8,27:4,4,13,14 1 10399944 88951606 A C 464 off_target VARTYPE=1;BGN=0.00119188;ARL=214;DER=46;DEA=63;QR=35;QA=37;PBP=211;PBM=260;TYPE=SNP;DBXREF=dbSNP:rs12143935,g1000:0.0148,esp5400:0.0306,ExAC:0.0330,GnomAD_AC_exome:8065,GnomAD_AN_exome:244712,GnomAD_AC_genome:1076,GnomAD_AN_genome:30912,GnomAD:0.0332;SGVEP=KIF1B|+|NM_015074|30|c.3375+27A>C|.|intronic GT:DP:AD:DP4 0/1:43:23,20:11,12,9,11 1 10412636 88953179 A T 397 off_target VARTYPE=1;BGN=0.00119188;ARL=247;DER=70;DEA=62;QR=35;QA=37;PBP=213;PBM=190;TYPE=SNP;DBXREF=dbSNP:rs4846215,g1000:0.1366,GnomAD_AC_genome:4007,GnomAD_AN_genome:30936,GnomAD:0.1295;SGVEP=KIF1B|+|NM_015074|36|c.3812-53A>T|.|intronic GT:DP:AD:DP4 0/1:36:19,17:10,9,9,8 1 10421878 96263 A G 1242 PASS VARTYPE=1;BGN=0.00119188;ARL=220;DER=84;DEA=59;QR=36;QA=37;PBP=595;PBM=658;TYPE=SNP;DBXREF=dbSNP:rs12125492,g1000:0.0803,esp5400:0.0920,ExAC:0.1130,clinvar:rs12125492,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:27534,GnomAD_AN_exome:245764,GnomAD_AC_genome:2644,GnomAD_AN_genome:30970,GnomAD:0.1091;SGVEP=KIF1B|+|NM_015074|38|c.4161A>G|p.(Pro1387:)|synonymous GT:DP:AD:DP4 0/1:95:43,52:23,20,25,27 1 10555257 89017397 C T 234 off_target VARTYPE=1;BGN=0.00119188;ARL=250;DER=86;DEA=33;QR=37;QA=37;PBP=120;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs622623,g1000:0.6470,esp5400:0.6515,GnomAD_AC_genome:20266,GnomAD_AN_genome:30906,GnomAD:0.6557;SGVEP=PEX14|+|NM_004565|2|c.37-74C>T|.|intronic GT:DP:AD:DP4 0/1:22:12,10:6,6,5,5 1 10596341 89023608 C T 235 PASS VARTYPE=1;BGN=0.000993604;ARL=224;DER=111;DEA=75;QR=33;QA=38;PBP=121;PBM=119;TYPE=SNP;DBXREF=dbSNP:rs12375,g1000:0.2280,esp5400:0.2495,ExAC:0.2840,clinvar:rs12375,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:72579,GnomAD_AN_exome:245946,GnomAD_AC_genome:7837,GnomAD_AN_genome:30888,GnomAD:0.2905;SGVEP=PEX14|+|NM_004565|3|c.156C>T|p.(Phe52:)|synonymous GT:DP:AD:DP4 0/1:25:15,10:7,8,5,5 1 10596388 89023655 A G 540 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=246;DEA=69;QA=36;PBP=256;PBM=284;TYPE=SNP;DBXREF=dbSNP:rs2480779,g1000:0.9527,esp5400:0.9593,ExAC:0.9870,GnomAD_AC_exome:241122,GnomAD_AN_exome:243568,GnomAD_AC_genome:29753,GnomAD_AN_genome:30954,GnomAD:0.9867;SGVEP=PEX14|+|NM_004565|3|c.169+34A>G|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,9,10 1 10678488 96277 A T 666 off_target VARTYPE=1;BGN=0.000993604;ARL=233;DER=85;DEA=88;QR=36;QA=38;PBP=283;PBM=392;TYPE=SNP;DBXREF=dbSNP:rs284238,g1000:0.1949,esp5400:0.1867,ExAC:0.1570,clinvar:rs284238,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:37833,GnomAD_AN_exome:243732,GnomAD_AC_genome:6010,GnomAD_AN_genome:30930,GnomAD:0.1596;SGVEP=PEX14|+|NM_004565|5|c.384+14A>T|.|intronic GT:DP:AD:DP4 0/1:61:33,28:17,16,12,16 1 10678610 89065845 G A 167 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=268;DER=30;DEA=31;QR=36;QA=37;PBP=72;PBM=98;SP=0;TYPE=SNP;DBXREF=dbSNP:rs284237,g1000:0.1937,GnomAD_AC_genome:5970,GnomAD_AN_genome:30896,GnomAD:0.1932;SGVEP=PEX14|+|NM_004565|5|c.384+136G>A|.|intronic GT:DP:AD:DP4 0/1:15:8,7:4,4,3,4 1 11080723 89347158 TGG TGGG 209 off_target VARTYPE=1;BGN=0.0135344;ARL=230;DER=48;DEA=48;QR=35;QA=36;HL=2;PBP=86;PBM=129;SP=1;TYPE=INDEL;DBXREF=dbSNP:rs397979211,g1000:0.9153,GnomAD_AC_genome:26799,GnomAD_AN_genome:30466,GnomAD:0.8796;SGVEP=TARDBP|+|NM_007375|5|c.714+69dupG|.|intronic GT:DP:AD:DP4 0/1:40:23,17:11,12,7,10 1 11087524 89350499 G A 1078 PASS VARTYPE=1;BGN=0.000993604;ARL=223;DER=99;DEA=93;QR=37;QA=38;PBP=544;PBM=544;TYPE=SNP;DBXREF=dbSNP:rs1782455,g1000:0.6875,esp5400:0.6695,ExAC:0.7850,clinvar:rs1782455,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:195539,GnomAD_AN_exome:246254,GnomAD_AC_genome:21454,GnomAD_AN_genome:30926,GnomAD:0.7829;SGVEP=MASP2|-|NM_006610|11|c.1479C>T|p.(Ser493:)|synonymous GT:DP:AD:DP4 0/1:104:58,46:29,29,23,23 1 11090916 89370040 C A 645 PASS VARTYPE=1;BGN=0.00119188;ARL=223;DER=78;DEA=80;QR=37;QA=37;PBP=325;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs12711521,g1000:0.5813,esp5400:0.6226,ExAC:0.7350,PhyloP:0.6450,SIFT:0.9430,PolyPhen2:0.5660,PolyPhen2_HumDiv:0.7480,LRT:0.9980,MutationTaster:1.0000,GERP:3.5000,clinvar:rs12711521,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:183026,GnomAD_AN_exome:245206,GnomAD_AC_genome:19824,GnomAD_AN_genome:30912,GnomAD:0.7346;SGVEP=MASP2|-|NM_006610|9|c.1111G>T|p.(Asp371Tyr)|missense GT:DP:AD:DP4 0/1:86:56,30:29,27,15,15 1 11095039 89370949 C T 474 off_target VARTYPE=1;BGN=0.00119188;ARL=270;DER=43;DEA=66;QR=37;QA=37;PBP=240;PBM=240;TYPE=SNP;DBXREF=dbSNP:rs6695096,g1000:0.8425,GnomAD_AC_genome:25785,GnomAD_AN_genome:30876,GnomAD:0.8351;SGVEP=MASP2|-|NM_006610|8|c.1009-76G>A|.|intronic GT:DP:AD:DP4 0/1:24:6,18:3,3,9,9 1 11105106 89374326 C T 239 off_target VARTYPE=1;BGN=0.00205729;ARL=223;DER=74;DEA=43;QR=37;QA=34;PBP=124;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs2273345,g1000:0.5775,GnomAD_AC_genome:19111,GnomAD_AN_genome:30632,GnomAD:0.6239;SGVEP=MASP2|-|NM_006610|4|c.544+359G>A|.|intronic GT:DP:AD:DP4 0/1:32:20,12:9,11,6,6 1 11105122 89374329 C T 130 off_target VARTYPE=1;BGN=0.00119188;ARL=240;DER=85;DEA=66;QR=35;QA=37;PBP=68;PBM=66;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2273344,g1000:0.8434,GnomAD_AC_genome:25399,GnomAD_AN_genome:30704,GnomAD:0.8272;SGVEP=MASP2|-|NM_006610|4|c.544+343G>A|.|intronic GT:DP:AD:DP4 0/1:20:14,6:6,8,3,3 1 11851003 89872764 G C 1645 off_target VARTYPE=1;BGN=0.00142973;ARL=250;DEA=67;QA=36;PBP=795;PBM=852;TYPE=SNP;DBXREF=dbSNP:rs3818762,g1000:0.2460,esp5400:0.2276,ExAC:0.2580,GnomAD_AC_exome:62262,GnomAD_AN_exome:238422,GnomAD_AC_genome:7139,GnomAD_AN_genome:30868,GnomAD:0.2577;SGVEP=MTHFR|-|NM_001330358|12|c.1876-48C>G|.|intronic GT:DP:AD:DP4 1/1:58:0,58:0,0,28,30 1 11851118 89872769 A G 470 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=278;DEA=135;QA=35;PBP=221;PBM=249;TYPE=SNP;DBXREF=dbSNP:rs7518348,g1000:0.9022,GnomAD_AC_genome:28093,GnomAD_AN_genome:30900,GnomAD:0.9092;SGVEP=MTHFR|-|NM_001330358|11|c.1875+146T>C|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,8,9 1 11852300 89872999 C T 1486 off_target VARTYPE=1;BGN=0.00119188;ARL=234;DEA=74;QA=37;PBP=788;PBM=701;TYPE=SNP;DBXREF=dbSNP:rs1476413,g1000:0.2512,esp5400:0.2203,ExAC:0.2680,GnomAD_AC_exome:64711,GnomAD_AN_exome:246240,GnomAD_AC_genome:7186,GnomAD_AN_genome:30908,GnomAD:0.2594;SGVEP=MTHFR|-|NM_001330358|10|c.1755+35G>A|.|intronic GT:DP:AD:DP4 1/1:51:0,51:0,0,27,24 1 11854457 96355 G A 988 PASS VARTYPE=1;BGN=0.000993604;ARL=233;DEA=55;QA=38;PBP=510;PBM=480;TYPE=SNP;DBXREF=dbSNP:rs4846051,g1000:0.9030,esp5400:0.8896,ExAC:0.9700,clinvar:rs4846051,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:240229,GnomAD_AN_exome:246256,GnomAD_AC_genome:28055,GnomAD_AN_genome:30860,GnomAD:0.9681;SGVEP=MTHFR|-|NM_001330358|8|c.1428C>T|p.(Phe476:)|synonymous GT:DP:AD:DP4 1/1:33:0,33:0,0,17,16 1 11854476 96356 T G 1048 PASS VARTYPE=1;BGN=0.000993604;ARL=231;DER=117;DEA=67;QR=10;QA=38;PBP=570;PBM=480;TYPE=SNP;DBXREF=dbSNP:rs1801131,g1000:0.2494,esp5400:0.2554,ExAC:0.2950,PhyloP:1.8980,SIFT:0.9000,PolyPhen2:0.0650,PolyPhen2_HumDiv:0.4620,LRT:1.0000,MutationTaster:1.0000,GERP:4.7400,clinvar:rs1801131,CLNSIG:drug_response,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:71458,GnomAD_AN_exome:246250,GnomAD_AC_genome:7990,GnomAD_AN_genome:30854,GnomAD:0.2867;SGVEP=MTHFR|-|NM_001330358|8|c.1409A>C|p.(Glu470Ala)|missense GT:DP:AD:DP4 1/1:35:0,35:0,0,19,16 1 11854671 89873535 C A 608 off_target VARTYPE=1;BGN=0.00171504;ARL=249;DEA=53;QA=35;PBP=332;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs12121543,GnomAD_AC_genome:6661,GnomAD_AN_genome:30838,GnomAD:0.2160;SGVEP=MTHFR|-|NM_001330358|8|c.1290-76G>T|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,12,10 1 11860458 89874565 C T 280 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=240;DER=47;DEA=32;QR=31;QA=37;PBP=129;PBM=156;TYPE=SNP;DBXREF=dbSNP:rs2066471,g1000:0.1140,GnomAD_AC_genome:3714,GnomAD_AN_genome:30940,GnomAD:0.1200;SGVEP=MTHFR|-|NM_001330358|4|c.599-79G>A|.|intronic GT:DP:AD:DP4 0/1:17:6,11:3,3,5,6 1 11879685 89877457 C T 701 off_target VARTYPE=1;BGN=0.00119188;ARL=243;DEA=65;QA=37;PBP=351;PBM=351;TYPE=SNP;DBXREF=dbSNP:rs198393,g1000:0.4259,GnomAD_AC_genome:13717,GnomAD_AN_genome:30900,GnomAD:0.4439;SGVEP=CLCN6|+|NM_001256959|4|c.280+74C>T|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 1 11883629 89878062 T A 276 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=278;DEA=27;QA=35;PBP=138;PBM=138;TYPE=SNP;DBXREF=dbSNP:rs198399,g1000:0.4952,GnomAD_AC_genome:15446,GnomAD_AN_genome:30750,GnomAD:0.5023;SGVEP=CLCN6|+|NM_001256959|6|c.388-135T>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 11884555 89878279 A G 1428 PASS VARTYPE=1;BGN=0.00119188;ARL=236;DEA=98;QA=37;PBP=759;PBM=671;TYPE=SNP;DBXREF=dbSNP:rs198400,g1000:0.9998,esp5400:0.9993,ExAC:0.9990,PhyloP:1.4620,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0010,LRT:1.0000,MutationTaster:1.0000,GERP:5.7900,GnomAD_AC_exome:245812,GnomAD_AN_exome:245958,GnomAD_AC_genome:30950,GnomAD_AN_genome:30960,GnomAD:0.9994;SGVEP=CLCN6|+|NM_001256959|7|c.527A>G|p.(Glu176Gly)|missense GT:DP:AD:DP4 1/1:49:0,49:0,0,26,23 1 11887373 89878822 TGGGGGG TGGGGGGG 443 off_target VARTYPE=1;BGN=0.033838;ARL=248;DER=8;DEA=46;QR=38;QA=36;HL=6;PBP=223;PBM=223;TYPE=INDEL;DBXREF=dbSNP:rs55749208,GnomAD_AC_genome:24613,GnomAD_AN_genome:30704,GnomAD:0.8016;SGVEP=CLCN6|+|NM_001256959|9|c.774+101dupG|.|intronic GT:DP:AD:DP4 1/1:34:2,32:1,1,16,16 1 11888384 89878962 A G 303 low_coverage;off_target VARTYPE=1;BGN=0.00296031;ARL=259;DEA=56;QA=32;PBP=152;PBM=152;TYPE=SNP;DBXREF=dbSNP:rs198401,g1000:0.4968,GnomAD_AC_genome:15621,GnomAD_AN_genome:30882,GnomAD:0.5058;SGVEP=CLCN6|+|NM_001256959|10|c.888+108A>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 11889468 89913862 A G 313 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=282;DEA=57;QA=36;PBP=114;PBM=199;TYPE=SNP;DBXREF=dbSNP:rs535107,g1000:0.4028,GnomAD_AC_genome:13122,GnomAD_AN_genome:30884,GnomAD:0.4249;SGVEP=CLCN6|+|NM_001256959|12|c.1182+89A>G|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,4,7 1 11894263 89914722 A G 822 off_target VARTYPE=1;BGN=0.00119188;ARL=239;DER=66;DEA=64;QR=36;QA=37;PBP=413;PBM=418;TYPE=SNP;DBXREF=dbSNP:rs72640263,g1000:0.0040,esp5400:0.0042,ExAC:0.0100,GnomAD_AC_exome:2304,GnomAD_AN_exome:237412,GnomAD_AC_genome:286,GnomAD_AN_genome:30868,GnomAD:0.0097;SGVEP=CLCN6|+|NM_001256959|15|c.1461-30A>G|.|intronic GT:DP:AD:DP4 0/1:80:44,36:23,21,18,18 1 11897351 89915468 G C 501 off_target VARTYPE=1;BGN=0.00119188;ARL=243;DER=42;DEA=76;QR=36;QA=37;PBP=255;PBM=253;TYPE=SNP;DBXREF=dbSNP:rs72640268,g1000:0.0040,esp5400:0.0042,ExAC:0.0110,GnomAD_AC_exome:2276,GnomAD_AN_exome:233294,GnomAD_AC_genome:285,GnomAD_AN_genome:30942,GnomAD:0.0097;SGVEP=CLCN6|+|NM_001256959|19|c.2073-49G>C|.|intronic GT:DP:AD:DP4 0/1:51:29,22:14,15,11,11 1 11897592 89915552 A G 1077 off_target VARTYPE=1;BGN=0.00171504;ARL=235;DEA=50;QA=35;PBP=525;PBM=553;TYPE=SNP;DBXREF=dbSNP:rs198406,g1000:0.4008,esp5400:0.4462,ExAC:0.3960,GnomAD_AC_exome:93604,GnomAD_AN_exome:242354,GnomAD_AC_genome:12996,GnomAD_AN_genome:30850,GnomAD:0.3902;SGVEP=CLCN6|+|NM_001256959|19|c.2229+36A>G|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,19,20 1 12004493 89963441 CA CAAA 275 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=277;DER=62;DEA=75;QR=37;QA=73;PBP=166;PBM=113;TYPE=INDEL;DBXREF=dbSNP:rs200129470,g1000:0.0723,GnomAD_AC_genome:1495,GnomAD_AN_genome:30780,GnomAD:0.0486;SGVEP=PLOD1|+|NM_000302|2|c.77-3539_77-3538insAA|.|intronic GT:DP:AD:DP4 0/1:13:6,5:4,2,3,2 1 12004819 89963504 G A 246 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=273;DER=66;DEA=52;QR=38;QA=35;PBP=83;PBM=168;SP=3;TYPE=SNP;DBXREF=dbSNP:rs142782618,g1000:0.0048,GnomAD_AC_genome:389,GnomAD_AN_genome:30918,GnomAD:0.0126;SGVEP=PLOD1|+|NM_000302|2|c.77-3214G>A|.|intronic GT:DP:AD:DP4 0/1:14:4,10:0,4,3,7 1 12009956 96414 G A 1329 PASS VARTYPE=1;BGN=0.00119188;ARL=203;DER=57;DEA=61;QR=37;QA=37;PBP=647;PBM=694;TYPE=SNP;DBXREF=dbSNP:rs7551175,g1000:0.2995,esp5400:0.2824,ExAC:0.1930,PhyloP:0.1630,SIFT:0.0860,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9280,MutationTaster:0.0000,GERP:2.9000,clinvar:rs7551175,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:44303,GnomAD_AN_exome:246130,GnomAD_AC_genome:8058,GnomAD_AN_genome:30878,GnomAD:0.1890;SGVEP=PLOD1|+|NM_000302|3|c.295G>A|p.(Ala99Thr)|missense GT:DP:AD:DP4 0/1:124:66,58:32,34,28,30 1 12016957 89993073 T G 1552 off_target VARTYPE=1;BGN=0.00119188;ARL=220;DER=50;DEA=57;QR=35;QA=37;PBP=787;PBM=777;TYPE=SNP;DBXREF=dbSNP:rs41307745,g1000:0.0769,esp5400:0.0401,ExAC:0.0710,clinvar:rs41307745,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:16760,GnomAD_AN_exome:246248,GnomAD_AC_genome:1530,GnomAD_AN_genome:30870,GnomAD:0.0660;SGVEP=PLOD1|+|NM_000302|7|c.644-17T>G|.|intronic GT:DP:AD:DP4 0/1:118:53,65:29,24,33,32 1 12025600 89995548 C T 1270 PASS VARTYPE=1;BGN=0.00119188;ARL=224;DER=106;DEA=100;QR=36;QA=37;PBP=665;PBM=616;TYPE=SNP;DBXREF=dbSNP:rs138490756,g1000:0.0018,esp5400:0.0034,ExAC:0.0034,PhyloP:1.3470,SIFT:0.9980,PolyPhen2:0.3940,PolyPhen2_HumDiv:0.9860,LRT:1.0000,MutationTaster:1.0000,GERP:4.6400,clinvar:rs138490756,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:781,GnomAD_AN_exome:246102,GnomAD_AC_genome:124,GnomAD_AN_genome:30902,GnomAD:0.0033;SGVEP=PLOD1|+|NM_000302|14|c.1534C>T|p.(Arg512Cys)|missense GT:DP:AD:DP4 0/1:125:69,56:35,34,29,27 1 12027204 89996056 C T 409 off_target VARTYPE=1;BGN=0.00119188;ARL=237;DER=47;DEA=57;QR=36;QA=37;PBP=193;PBM=222;TYPE=SNP;DBXREF=dbSNP:rs2273293,g1000:0.5639,GnomAD_AC_genome:16116,GnomAD_AN_genome:30842,GnomAD:0.5225;SGVEP=PLOD1|+|NM_000302|16|c.1755+56C>T|.|intronic GT:DP:AD:DP4 0/1:32:15,17:8,7,8,9 1 12033113 89997301 A G 274 off_target VARTYPE=1;BGN=0.00142973;ARL=238;DER=54;DEA=53;QR=37;QA=36;PBP=130;PBM=150;TYPE=SNP;DBXREF=dbSNP:rs3737961,g1000:0.6498,GnomAD_AC_genome:17847,GnomAD_AN_genome:30576,GnomAD:0.5837;SGVEP=PLOD1|+|NM_000302|18|c.2028+59A>G|.|intronic GT:DP:AD:DP4 0/1:37:24,13:11,13,6,7 1 12033120 89997304 G C 274 off_target VARTYPE=1;BGN=0.00142973;ARL=240;DER=47;DEA=53;QR=36;QA=36;PBP=132;PBM=148;TYPE=SNP;DBXREF=dbSNP:rs3820190,g1000:0.6593,GnomAD_AC_genome:18085,GnomAD_AN_genome:30582,GnomAD:0.5914;SGVEP=PLOD1|+|NM_000302|18|c.2028+66G>C|.|intronic GT:DP:AD:DP4 0/1:37:24,13:10,14,6,7 1 12056440 90001409 C T 185 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=255;DER=63;DEA=39;QR=37;QA=37;PBP=96;PBM=94;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2236056,g1000:0.6536,GnomAD_AC_genome:20388,GnomAD_AN_genome:30908,GnomAD:0.6596;SGVEP=MFN2|+|NM_001127660|4|c.474+65C>T|.|intronic GT:DP:AD:DP4 0/1:19:11,8:5,6,4,4 1 12062205 90002942 A G 2588 off_target VARTYPE=1;BGN=0.00119188;ARL=234;DEA=61;QA=37;PBP=1283;PBM=1312;TYPE=SNP;DBXREF=dbSNP:rs2236057,g1000:0.6579,esp5400:0.6488,ExAC:0.6600,GnomAD_AC_exome:160038,GnomAD_AN_exome:245178,GnomAD_AC_genome:20410,GnomAD_AN_genome:30908,GnomAD:0.6536;SGVEP=MFN2|+|NM_001127660|10|c.1160+45A>G|.|intronic GT:DP:AD:DP4 1/1:89:0,89:0,0,44,45 1 12067044 90013469 T G 162 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=252;DER=67;DEA=16;QR=37;QA=37;PBP=122;PBM=45;SP=2;TYPE=SNP;DBXREF=dbSNP:rs7550536,g1000:0.5268,GnomAD_AC_genome:17169,GnomAD_AN_genome:30854,GnomAD:0.5565;SGVEP=MFN2|+|NM_001127660|16|c.1873-66T>G|.|intronic GT:DP:AD:DP4 0/1:17:10,7:5,5,5,2 1 12067336 90013843 G C 677 off_target VARTYPE=1;BGN=0.00142973;ARL=226;DER=76;DEA=63;QR=37;QA=36;PBP=331;PBM=354;TYPE=SNP;DBXREF=dbSNP:rs77941748,g1000:0.0124,esp5400:0.0170,ExAC:0.0096,GnomAD_AC_exome:2072,GnomAD_AN_exome:232648,GnomAD_AC_genome:535,GnomAD_AN_genome:30966,GnomAD:0.0099;SGVEP=MFN2|+|NM_001127660|16|c.2069+30G>C|.|intronic GT:DP:AD:DP4 0/1:72:41,31:20,21,15,16 1 12071680 90015895 A G 1283 off_target VARTYPE=1;BGN=0.00119188;ARL=224;DEA=52;QA=37;PBP=613;PBM=671;TYPE=SNP;DBXREF=dbSNP:rs1042842,g1000:0.7324,esp5400:0.6865,clinvar:rs1042842,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:22193,GnomAD_AN_genome:30862,GnomAD:0.7191;SGVEP=MFN2|+|NM_001127660|18|c.*58A>G|.|3'UTR GT:DP:AD:DP4 1/1:44:0,44:0,0,21,23 1 15764869 92064596 C T 294 off_target VARTYPE=1;BGN=0.00142973;ARL=250;DER=43;DEA=60;QR=34;QA=36;PBP=147;PBM=154;TYPE=SNP;DBXREF=dbSNP:rs144717165,g1000:0.0060,GnomAD_AC_genome:196,GnomAD_AN_genome:30968,GnomAD:0.0063;SGVEP=CTRC|+|NM_007272|1|.|.|intergenic GT:DP:AD:DP4 0/1:40:26,14:15,11,7,7 1 15769876 92066609 GCC GCCC 570 off_target VARTYPE=1;BGN=0.0135344;ARL=233;DER=118;DEA=58;QR=38;QA=35;HL=2;PBP=287;PBM=287;TYPE=INDEL;DBXREF=dbSNP:rs397730661,g1000:1.0000,ExAC:1.0000,GnomAD_AC_exome:246061,GnomAD_AN_exome:246066,GnomAD_AC_genome:30970,GnomAD_AN_genome:30972,GnomAD:1.0000;SGVEP=CTRC|+|NM_007272|5|c.357-36dupC|.|intronic GT:DP:AD:DP4 1/1:40:4,34:2,2,17,17 1 15770101 92066724 C A 625 off_target VARTYPE=1;BGN=0.00119188;ARL=240;DER=30;DEA=55;QR=37;QA=37;PBP=323;PBM=310;TYPE=SNP;DBXREF=dbSNP:rs10803384,g1000:0.1713,esp5400:0.2274,ExAC:0.1990,clinvar:rs10803384,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:48735,GnomAD_AN_exome:245574,GnomAD_AC_genome:6214,GnomAD_AN_genome:30938,GnomAD:0.1987;SGVEP=CTRC|+|NM_007272|5|c.493+51C>A|.|intronic GT:DP:AD:DP4 0/1:48:22,26:9,13,13,13 1 15772057 92067537 G T 777 off_target VARTYPE=1;BGN=0.00119188;ARL=246;DER=67;DEA=67;QR=34;QA=37;PBP=432;PBM=353;TYPE=SNP;DBXREF=dbSNP:rs10927786,g1000:0.3576,esp5400:0.3707,ExAC:0.3620,clinvar:rs10927786,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:87695,GnomAD_AN_exome:243804,GnomAD_AC_genome:10593,GnomAD_AN_genome:30846,GnomAD:0.3579;SGVEP=CTRC|+|NM_007272|7|c.640-35G>T|.|intronic GT:DP:AD:DP4 0/1:65:32,33:16,16,18,15 1 15772933 92068030 A G 259 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=240;DER=32;DEA=27;QR=37;QA=35;PBP=143;PBM=121;TYPE=SNP;DBXREF=dbSNP:rs555015,g1000:0.5445,GnomAD_AC_genome:16950,GnomAD_AN_genome:30868,GnomAD:0.5491;SGVEP=CTRC|+|NM_007272|8|c.793-137A>G|.|intronic GT:DP:AD:DP4 0/1:18:7,11:4,3,6,5 1 16342237 92439466 A G 1444 PASS VARTYPE=1;BGN=0.00119188;ARL=220;DER=76;DEA=69;QR=37;QA=37;PBP=686;PBM=771;TYPE=SNP;DBXREF=dbSNP:rs1739840,g1000:0.6526,esp5400:0.6205,ExAC:0.5860,GnomAD_AC_exome:135543,GnomAD_AN_exome:234234,GnomAD_AC_genome:19345,GnomAD_AN_genome:30824,GnomAD:0.5844;SGVEP=HSPB7|-|NM_014424|3|c.351T>C|p.(Thr117:)|synonymous GT:DP:AD:DP4 0/1:134:71,63:37,34,30,33 1 16342350 92439493 A T 140 low_coverage;off_target VARTYPE=1;BGN=0.00246784;ARL=256;DER=50;DEA=38;QR=37;QA=33;PBP=63;PBM=81;SP=0;TYPE=SNP;DBXREF=dbSNP:rs761759,g1000:0.6528,GnomAD_AC_genome:19373,GnomAD_AN_genome:30846,GnomAD:0.6281;SGVEP=HSPB7|-|NM_014424|3|c.334-96T>A|.|intronic GT:DP:AD:DP4 0/1:17:10,7:4,6,3,4 1 16344360 92439692 A G 1030 PASS VARTYPE=1;BGN=0.00119188;ARL=212;DER=73;DEA=84;QR=34;QA=37;PBP=498;PBM=542;TYPE=SNP;DBXREF=dbSNP:rs732286,g1000:0.6490,esp5400:0.6147,ExAC:0.5860,GnomAD_AC_exome:139253,GnomAD_AN_exome:242164,GnomAD_AC_genome:19245,GnomAD_AN_genome:30846,GnomAD:0.5806;SGVEP=HSPB7|-|NM_014424|1|c.99T>C|p.(Ala33:)|synonymous GT:DP:AD:DP4 0/1:109:63,46:30,33,22,24 1 16344402 92439711 G A 856 PASS VARTYPE=1;BGN=0.00119188;ARL=217;DER=54;DEA=52;QR=36;QA=37;PBP=423;PBM=441;TYPE=SNP;DBXREF=dbSNP:rs945416,g1000:0.6490,esp5400:0.6139,ExAC:0.5870,GnomAD_AC_exome:139862,GnomAD_AN_exome:243252,GnomAD_AC_genome:19231,GnomAD_AN_genome:30876,GnomAD:0.5804;SGVEP=HSPB7|-|NM_014424|1|c.57C>T|p.(Ser19:)|synonymous GT:DP:AD:DP4 0/1:78:41,37:19,22,18,19 1 16350262 92440186 A G 659 off_target VARTYPE=1;BGN=0.000993604;ARL=245;DER=58;DEA=48;QR=37;QA=38;PBP=341;PBM=326;TYPE=SNP;DBXREF=dbSNP:rs1537803,g1000:0.0535,esp5400:0.0917,ExAC:0.0780,GnomAD_AC_exome:18792,GnomAD_AN_exome:245526,GnomAD_AC_genome:3010,GnomAD_AN_genome:30914,GnomAD:0.0789;SGVEP=CLCNKA|+|NM_001042704|3|c.101-33A>G|.|intronic GT:DP:AD:DP4 0/1:53:26,27:15,11,14,13 1 16351137 92440276 C G 174 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=268;DER=60;DEA=12;QR=35;QA=36;PBP=125;PBM=52;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9442190,g1000:0.6428,GnomAD_AC_genome:18531,GnomAD_AN_genome:30752,GnomAD:0.6026;SGVEP=CLCNKA|+|NM_001042704|4|c.230-121C>G|.|intronic GT:DP:AD:DP4 0/1:11:4,7:3,1,5,2 1 16351275 92440299 A G 1778 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=66;DEA=72;QR=37;QA=37;PBP=907;PBM=886;TYPE=SNP;DBXREF=dbSNP:rs10927887,g1000:0.6430,esp5400:0.5999,ExAC:0.5630,PhyloP:-0.1530,SIFT:0.6110,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.6360,MutationTaster:0.0100,GERP:0.8720,GnomAD_AC_exome:135231,GnomAD_AN_exome:246018,GnomAD_AC_genome:18605,GnomAD_AN_genome:30856,GnomAD:0.5556;SGVEP=CLCNKA|+|NM_001042704|4|c.247A>G|p.(Arg83Gly)|missense GT:DP:AD:DP4 0/1:179:100,79:51,49,40,39 1 16353165 92440488 T G 212 low_variant_fraction;off_target VARTYPE=1;BGN=0.000993604;ARL=219;DER=96;DEA=72;QR=35;QA=38;PBP=93;PBM=126;SP=1;TYPE=SNP;DBXREF=dbSNP:rs761375883,GnomAD_AC_exome:3,GnomAD_AN_exome:245968,GnomAD:0.0000;SGVEP=CLCNKA|+|NM_001042704|7|c.577-27T>G|.|intronic GT:DP:AD:DP4 0/1:335:317,16:157,160,7,9 1 16353256 92440512 C G 128 low_variant_fraction VARTYPE=1;BGN=0.000993604;ARL=210;DER=87;DEA=20;QR=36;QA=38;PBP=60;PBM=74;SP=0;TYPE=SNP;DBXREF=dbSNP:rs753955664,ExAC:0.0001,PhyloP:-0.0930,SIFT:0.2660,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:-1.6400,GnomAD_AC_exome:19,GnomAD_AN_exome:245746,GnomAD_AC_genome:2,GnomAD_AN_genome:30896,GnomAD:0.0001;SGVEP=CLCNKA|+|NM_001042704|7|c.641C>G|p.(Ala214Gly)|missense GT:DP:AD:DP4 0/1:352:341,11:163,178,5,6 1 16353257 92440513 A C 128 low_variant_fraction VARTYPE=1;BGN=0.00142973;ARL=210;DER=90;DEA=22;QR=36;QA=36;PBP=68;PBM=66;SP=0;TYPE=SNP;DBXREF=dbSNP:rs371660947,ExAC:0.0001,GnomAD_AC_exome:20,GnomAD_AN_exome:245734,GnomAD_AC_genome:2,GnomAD_AN_genome:30890,GnomAD:0.0001;SGVEP=CLCNKA|+|NM_001042704|7|c.642A>C|p.(Ala214:)|synonymous GT:DP:AD:DP4 0/1:336:324,12:155,169,6,6 1 16353400 92440537 T C 1064 off_target VARTYPE=1;BGN=0.00142973;ARL=236;DER=63;DEA=47;QR=36;QA=36;PBP=536;PBM=539;TYPE=SNP;DBXREF=dbSNP:rs9442216,g1000:0.7512,GnomAD_AC_genome:22170,GnomAD_AN_genome:30742,GnomAD:0.7212;SGVEP=CLCNKA|+|NM_001042704|7|c.655+130T>C|.|intronic GT:DP:AD:DP4 0/1:114:65,49:28,37,24,25 1 16353482 92440543 A G 205 off_target VARTYPE=1;BGN=0.00171504;ARL=250;DER=33;DEA=66;QR=36;QA=35;PBP=87;PBM=123;SP=0;TYPE=SNP;DBXREF=dbSNP:rs67179509,g1000:0.2582,GnomAD_AC_genome:8691,GnomAD_AN_genome:30790,GnomAD:0.2823;SGVEP=CLCNKA|+|NM_001042704|7|c.655+212A>G|.|intronic GT:DP:AD:DP4 0/1:28:18,10:6,12,4,6 1 16354241 92440935 G C 172 low_variant_fraction;off_target VARTYPE=1;BGN=0.00142973;ARL=255;DER=58;DEA=49;QR=35;QA=36;PBP=88;PBM=90;SP=0;TYPE=SNP;DBXREF=dbSNP:rs41290369;SGVEP=CLCNKA|+|NM_001042704|9|c.782-75G>C|.|intronic GT:DP:AD:DP4 0/1:65:55,10:29,26,5,5 1 16354280 92440951 G C 1162 off_target VARTYPE=1;BGN=0.00119188;ARL=224;DER=48;DEA=58;QR=36;QA=37;PBP=631;PBM=542;TYPE=SNP;DBXREF=dbSNP:rs10927889,g1000:0.6424,esp5400:0.5972,ExAC:0.5640,GnomAD_AC_exome:114483,GnomAD_AN_exome:192048,GnomAD_AC_genome:19069,GnomAD_AN_genome:30162,GnomAD:0.6010;SGVEP=CLCNKA|+|NM_001042704|9|c.782-36G>C|.|intronic GT:DP:AD:DP4 0/1:149:95,54:50,45,29,25 1 16354394 92441004 C T 538 low_variant_fraction VARTYPE=1;BGN=0.000993604;ARL=215;DER=85;DEA=65;QR=37;QA=38;PBP=272;PBM=275;TYPE=SNP;DBXREF=dbSNP:rs200268763,g1000:0.0174,esp5400:0.0119,PhyloP:-0.4790,SIFT:0.2940,PolyPhen2:0.0040,PolyPhen2_HumDiv:0.0010,LRT:0.6600,MutationTaster:0.0000,GERP:-2.4700,GnomAD_AC_exome:1298,GnomAD_AN_exome:243848,GnomAD_AC_genome:360,GnomAD_AN_genome:29410,GnomAD:0.0061;SGVEP=CLCNKA|+|NM_001042704|9|c.860C>T|p.(Ala287Val)|missense GT:DP:AD:DP4 0/1:282:250,32:128,122,16,16 1 16354433 92441026 A AT 262 low_variant_fraction;off_target VARTYPE=1;BGN=0.00119188;ARL=228;DER=96;DEA=48;QR=36;QA=37;PBP=153;PBM=116;TYPE=INDEL;DBXREF=dbSNP:rs764309129;SGVEP=CLCNKA|+|NM_001042704|9|c.866+33_866+34insT|.|intronic GT:DP:AD:DP4 0/1:233:215,18:107,108,10,8 1 16354435 92441028 A T 280 low_variant_fraction;off_target VARTYPE=1;BGN=0.000993604;ARL=227;DER=98;DEA=45;QR=36;QA=38;PBP=164;PBM=124;TYPE=SNP;DBXREF=dbSNP:rs749417866;SGVEP=CLCNKA|+|NM_001042704|9|c.866+35A>T|.|intronic GT:DP:AD:DP4 0/1:220:200,18:99,101,10,8 1 16354590 92441117 A T 1427 PASS VARTYPE=1;BGN=0.00119188;ARL=210;DER=79;DEA=66;QR=36;QA=37;PBP=652;PBM=787;TYPE=SNP;DBXREF=dbSNP:rs12126269,g1000:0.1546,esp5400:0.1873,ExAC:0.2070,PhyloP:0.4510,SIFT:0.1940,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.2400,MutationTaster:0.0000,GERP:2.1800,GnomAD_AC_exome:52463,GnomAD_AN_exome:246220,GnomAD_AC_genome:6551,GnomAD_AN_genome:30804,GnomAD:0.2130;SGVEP=CLCNKA|+|NM_001042704|10|c.944A>T|p.(Tyr315Phe)|missense GT:DP:AD:DP4 0/1:177:111,66:52,59,30,36 1 16355525 92441437 G A 104 off_target VARTYPE=1;BGN=0.000993604;ARL=236;DER=33;DEA=92;QR=36;QA=38;PBP=61;PBM=48;SP=2;TYPE=SNP;DBXREF=dbSNP:rs7366320,GnomAD_AC_genome:3017,GnomAD_AN_genome:30766,GnomAD:0.0981;SGVEP=CLCNKA|+|NM_001042704|12|c.1054-96G>A|.|intronic GT:DP:AD:DP4 0/1:24:19,5:15,4,3,2 1 16355577 . TGGGGGGGG TGGGGGG 193 off_target VARTYPE=1;BGN=0.0683068;ARL=222;DER=46;DEA=73;QR=32;QA=84;HL=8;PBP=113;PBM=89;SP=0;TYPE=INDEL;SGVEP=CLCNKA|+|NM_001042704|12|c.1054-37_1054-36del|.|intronic GT:DP:AD:DP4 0/1:74:54,14:32,22,8,6 1 16355614 92441486 G A 857 off_target VARTYPE=1;BGN=0.00142973;ARL=214;DER=65;DEA=51;QR=36;QA=36;PBP=478;PBM=389;TYPE=SNP;DBXREF=dbSNP:rs45457595,g1000:0.0539,esp5400:0.0673,ExAC:0.0640,GnomAD_AC_genome:2856,GnomAD_AN_genome:30566,GnomAD:0.0934;SGVEP=CLCNKA|+|NM_001042704|12|c.1054-7G>A|.|intronic GT:DP:AD:DP4 0/1:125:83,42:43,40,23,19 1 16355877 92441633 G A 525 off_target VARTYPE=1;BGN=0.00119188;ARL=255;DER=37;DEA=33;QR=35;QA=37;PBP=243;PBM=289;TYPE=SNP;DBXREF=dbSNP:rs34398185,g1000:0.0533,GnomAD_AC_genome:3009,GnomAD_AN_genome:30874,GnomAD:0.0975;SGVEP=CLCNKA|+|NM_001042704|12|c.1227+83G>A|.|intronic GT:DP:AD:DP4 0/1:42:20,22:9,11,10,12 1 16356187 92441689 C T 186 off_target VARTYPE=1;BGN=0.00246784;ARL=224;DER=43;DEA=40;QR=35;QA=33;PBP=94;PBM=97;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1972359,g1000:0.0533,esp5400:0.0917,ExAC:0.0780,GnomAD_AC_exome:18907,GnomAD_AN_exome:246156,GnomAD_AC_genome:3026,GnomAD_AN_genome:30912,GnomAD:0.0792;SGVEP=CLCNKA|+|NM_001042704|13|c.1228-39C>T|.|intronic GT:DP:AD:DP4 0/1:30:20,10:11,9,5,5 1 16356869 92442066 C T 411 off_target VARTYPE=1;BGN=0.00171504;ARL=263;DER=47;DEA=47;QR=36;QA=35;PBP=205;PBM=212;TYPE=SNP;DBXREF=dbSNP:rs12729970,g1000:0.0539,GnomAD_AC_genome:3052,GnomAD_AN_genome:30916,GnomAD:0.0987;SGVEP=CLCNKA|+|NM_001042704|15|c.1409-87C>T|.|intronic GT:DP:AD:DP4 0/1:32:14,18:8,6,9,9 1 16356915 92442098 C G 1017 off_target VARTYPE=1;BGN=0.00142973;ARL=236;DER=50;DEA=60;QR=36;QA=36;PBP=563;PBM=463;TYPE=SNP;DBXREF=dbSNP:rs12729991,g1000:0.0539,esp5400:0.0918,ExAC:0.0790,GnomAD_AC_exome:18251,GnomAD_AN_exome:235220,GnomAD_AC_genome:3049,GnomAD_AN_genome:30922,GnomAD:0.0800;SGVEP=CLCNKA|+|NM_001042704|15|c.1409-41C>G|.|intronic GT:DP:AD:DP4 0/1:81:37,44:19,18,24,20 1 16357147 92442271 C T 2327 PASS VARTYPE=1;BGN=0.00119188;ARL=206;DER=62;DEA=67;QR=36;QA=37;PBP=1160;PBM=1186;TYPE=SNP;DBXREF=dbSNP:rs12140223,g1000:0.0535,esp5400:0.0900,ExAC:0.0780,PhyloP:-0.3790,SIFT:0.8320,PolyPhen2:0.0260,PolyPhen2_HumDiv:0.0300,LRT:0.9460,MutationTaster:0.0000,GERP:-2.5700,GnomAD_AC_exome:18876,GnomAD_AN_exome:245356,GnomAD_AC_genome:3046,GnomAD_AN_genome:30932,GnomAD:0.0793;SGVEP=CLCNKA|+|NM_001042704|15|c.1600C>T|p.(Arg534Trp)|missense GT:DP:AD:DP4 0/1:227:124,103:62,62,51,52 1 16358085 92442542 C A 207 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=273;DER=50;DEA=50;QR=34;QA=37;PBP=161;PBM=51;SP=3;TYPE=SNP;DBXREF=dbSNP:rs883867,g1000:0.0537,GnomAD_AC_genome:3025,GnomAD_AN_genome:30886,GnomAD:0.0979;SGVEP=CLCNKA|+|NM_001042704|16|c.1623-120C>A|.|intronic GT:DP:AD:DP4 0/1:12:4,8:2,2,6,2 1 16358134 92442564 T C 395 off_target VARTYPE=1;BGN=0.00119188;ARL=238;DER=38;DEA=59;QR=35;QA=37;PBP=237;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs2015515,g1000:0.0537,GnomAD_AC_genome:3043,GnomAD_AN_genome:30890,GnomAD:0.0985;SGVEP=CLCNKA|+|NM_001042704|16|c.1623-71T>C|.|intronic GT:DP:AD:DP4 0/1:37:20,17:11,9,10,7 1 16358148 92442569 T C 493 off_target VARTYPE=1;BGN=0.00119188;ARL=237;DER=49;DEA=65;QR=35;QA=37;PBP=260;PBM=240;TYPE=SNP;DBXREF=dbSNP:rs2015509,g1000:0.7492,GnomAD_AC_genome:22158,GnomAD_AN_genome:30882,GnomAD:0.7175;SGVEP=CLCNKA|+|NM_001042704|16|c.1623-57T>C|.|intronic GT:DP:AD:DP4 0/1:43:22,21:12,10,11,10 1 16358366 92442750 C T 755 off_target VARTYPE=1;BGN=0.00142973;ARL=222;DER=47;DEA=53;QR=35;QA=36;PBP=371;PBM=392;TYPE=SNP;DBXREF=dbSNP:rs12141388,g1000:0.0541,esp5400:0.0933,ExAC:0.0790,GnomAD_AC_exome:19110,GnomAD_AN_exome:245538,GnomAD_AC_genome:3052,GnomAD_AN_genome:30908,GnomAD:0.0802;SGVEP=CLCNKA|+|NM_001042704|16|c.1756+28C>T|.|intronic GT:DP:AD:DP4 0/1:85:50,35:24,26,17,18 1 16358932 92443060 T C 202 off_target VARTYPE=1;BGN=0.00142973;ARL=230;DER=61;DEA=119;QR=35;QA=36;PBP=103;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs10803407,g1000:0.7490,esp5400:0.6944,ExAC:0.6880,GnomAD_AC_exome:167324,GnomAD_AN_exome:245674,GnomAD_AC_genome:22143,GnomAD_AN_genome:30860,GnomAD:0.6851;SGVEP=CLCNKA|+|NM_001042704|18|c.1846-9T>C|.|intronic GT:DP:AD:DP4 0/1:35:25,10:13,12,5,5 1 16359051 92443142 C A 169 off_target VARTYPE=1;BGN=0.00205729;ARL=223;DER=60;DEA=44;QR=36;QA=34;PBP=78;PBM=96;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10927892,g1000:0.6482,esp5400:0.1647,ExAC:0.5610,GnomAD_AC_exome:133933,GnomAD_AN_exome:245022,GnomAD_AC_genome:18661,GnomAD_AN_genome:30860,GnomAD:0.5531;SGVEP=CLCNKA|+|NM_001042704|18|c.1926+30C>A|.|intronic GT:DP:AD:DP4 0/1:31:22,9:10,12,4,5 1 16359052 92443150 A G 167 off_target VARTYPE=1;BGN=0.00205729;ARL=223;DER=59;DEA=43;QR=37;QA=34;PBP=76;PBM=96;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10927893,g1000:0.7640,esp5400:0.8586,ExAC:0.9230,GnomAD_AC_exome:226116,GnomAD_AN_exome:245140,GnomAD_AC_genome:28544,GnomAD_AN_genome:30898,GnomAD:0.9226;SGVEP=CLCNKA|+|NM_001042704|18|c.1926+31A>G|.|intronic GT:DP:AD:DP4 0/1:32:23,9:11,12,4,5 1 16360053 92443559 CT C 198 off_target VARTYPE=1;BGN=0.00296031;ARL=156;DER=57;DEA=36;QR=35;QA=32;PBP=80;PBM=125;SP=3;TYPE=INDEL;DBXREF=dbSNP:rs113049949,g1000:0.1006,GnomAD_AC_genome:3908,GnomAD_AN_genome:29654,GnomAD:0.1318;SGVEP=CLCNKA|+|NM_001042704|20|c.2014-52del|.|intronic GT:DP:AD:DP4 0/1:46:34,12:19,15,5,7 1 16360137 92443711 C T 229 PASS VARTYPE=1;BGN=0.00119188;ARL=203;DER=91;DEA=99;QR=36;QA=37;PBP=36;PBM=202;SP=5;TYPE=SNP;DBXREF=dbSNP:rs12746751,g1000:0.0605,esp5400:0.1005,ExAC:0.0800,PhyloP:2.0600,SIFT:1.0000,PolyPhen2:0.9890,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:3.7300,GnomAD_AC_exome:18950,GnomAD_AN_exome:245180,GnomAD_AC_genome:3010,GnomAD_AN_genome:29392,GnomAD:0.0800;SGVEP=CLCNKA|+|NM_001042704|20|c.2045C>T|p.(Pro682Leu)|missense GT:DP:AD:DP4 0/1:60:48,12:17,31,2,10 1 16360190 92443771 A C 192 off_target VARTYPE=1;BGN=0.00119188;ARL=202;DER=70;DEA=71;QR=36;QA=37;PBP=38;PBM=161;SP=3;TYPE=SNP;DBXREF=dbSNP:rs28418375,esp5400:0.1133,GnomAD_AC_genome:3159,GnomAD_AN_genome:29470,GnomAD:0.1072;SGVEP=CLCNKA|+|NM_001042704|20|c.*37A>C|.|3'UTR GT:DP:AD:DP4 0/1:50:40,10:14,26,2,8 1 16372282 92447629 GT G 274 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=255;DER=57;DEA=39;QR=32;QA=37;PBP=110;PBM=167;TYPE=INDEL;DBXREF=dbSNP:rs67016480,g1000:0.3594,GnomAD_AC_genome:9016,GnomAD_AN_genome:29504,GnomAD:0.3056;SGVEP=CLCNKB|+|NM_000085|3|c.229+102del|.|intronic GT:DP:AD:DP4 1/1:12:2,10:1,1,4,6 1 16374330 92448373 A G 450 off_target VARTYPE=1;BGN=0.00119188;ARL=255;DER=32;DEA=36;QR=34;QA=37;PBP=230;PBM=226;TYPE=SNP;DBXREF=dbSNP:rs945403,g1000:0.8415,GnomAD_AC_genome:26174,GnomAD_AN_genome:30936,GnomAD:0.8461;SGVEP=CLCNKB|+|NM_000085|5|c.359-70A>G|.|intronic GT:DP:AD:DP4 0/1:29:11,18:5,6,9,9 1 16374533 92448546 G C 704 PASS VARTYPE=1;BGN=0.00142973;ARL=234;DER=70;DEA=77;QR=35;QA=36;PBP=364;PBM=349;TYPE=SNP;DBXREF=dbSNP:rs2014562,g1000:0.8940,esp5400:0.8775,ExAC:0.9290,GnomAD_AC_exome:228761,GnomAD_AN_exome:245528,GnomAD_AC_genome:27603,GnomAD_AN_genome:30888,GnomAD:0.9275;SGVEP=CLCNKB|+|NM_000085|5|c.492G>C|p.(Gly164:)|synonymous GT:DP:AD:DP4 0/1:72:40,32:17,23,16,16 1 16374590 92448594 C T 361 off_target VARTYPE=1;BGN=0.00142973;ARL=254;DER=53;DEA=87;QR=36;QA=36;PBP=184;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs2282263,g1000:0.0655,esp5400:0.1170,ExAC:0.0980,GnomAD_AC_exome:21760,GnomAD_AN_exome:218568,GnomAD_AC_genome:3779,GnomAD_AN_genome:30908,GnomAD:0.1024;SGVEP=CLCNKB|+|NM_000085|5|c.498+51C>T|.|intronic GT:DP:AD:DP4 0/1:34:18,16:9,9,8,8 1 16374972 92448849 T G 10000 off_target VARTYPE=1;BGN=0.00119188;ARL=213;DER=78;DEA=94;QR=35;QA=37;PBP=1689;PBM=1781;TYPE=SNP;DBXREF=dbSNP:rs6696349,g1000:0.1556,esp5400:0.2073,ExAC:0.1280,GnomAD_AC_exome:29369,GnomAD_AN_exome:245760,GnomAD_AC_genome:6207,GnomAD_AN_genome:30798,GnomAD:0.1286;SGVEP=CLCNKB|+|NM_000085|7|c.577-27T>G|.|intronic GT:DP:AD:DP4 0/1:326:174,152:85,89,74,78 1 16375063 92448965 C G 2960 PASS VARTYPE=1;BGN=0.00119188;ARL=204;DER=57;DEA=80;QR=36;QA=37;PBP=1438;PBM=1548;TYPE=SNP;DBXREF=dbSNP:rs45612832,g1000:0.8273,esp5400:0.6377,ExAC:0.9000,PhyloP:0.0680,SIFT:0.3090,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.9710,GERP:2.7100,GnomAD_AC_exome:222846,GnomAD_AN_exome:245580,GnomAD_AC_genome:25400,GnomAD_AN_genome:30686,GnomAD:0.8986;SGVEP=CLCNKB|+|NM_000085|7|c.641C>G|p.(Ala214Gly)|missense GT:DP:AD:DP4 0/1:330:194,135:93,101,65,70 1 16375064 92448990 A C 2960 PASS VARTYPE=1;BGN=0.00119188;ARL=206;DER=59;DEA=81;QR=36;QA=37;PBP=1424;PBM=1562;TYPE=SNP;DBXREF=dbSNP:rs45575235,g1000:0.8273,esp5400:0.6324,ExAC:0.9000,GnomAD_AC_exome:222816,GnomAD_AN_exome:245556,GnomAD_AC_genome:25399,GnomAD_AN_genome:30688,GnomAD:0.8985;SGVEP=CLCNKB|+|NM_000085|7|c.642A>C|p.(Ala214:)|synonymous GT:DP:AD:DP4 0/1:318:184,134:89,95,64,70 1 16375132 92449063 C T 1332 off_target VARTYPE=1;BGN=0.00142973;ARL=233;DER=47;DEA=56;QR=35;QA=36;PBP=548;PBM=796;TYPE=SNP;DBXREF=dbSNP:rs12118326,g1000:0.0861,esp5400:0.1349,GnomAD_AC_genome:4232,GnomAD_AN_genome:30772,GnomAD:0.1375;SGVEP=CLCNKB|+|NM_000085|7|c.655+55C>T|.|intronic GT:DP:AD:DP4 0/1:127:67,60:33,34,25,35 1 16375510 92449257 G A 692 PASS VARTYPE=1;BGN=0.00119188;ARL=234;DER=74;DEA=79;QR=35;QA=37;PBP=374;PBM=326;TYPE=SNP;DBXREF=dbSNP:rs11588392,g1000:0.0944,esp5400:0.0770,ExAC:0.0550,PhyloP:-0.9290,SIFT:1.0000,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0120,MutationTaster:0.0000,GERP:-4.7300,GnomAD_AC_exome:12814,GnomAD_AN_exome:240732,GnomAD_AC_genome:2995,GnomAD_AN_genome:30870,GnomAD:0.0582;SGVEP=CLCNKB|+|NM_001165945|1|c.44G>A|p.(Gly15Glu)|missense GT:DP:AD:DP4 0/1:89:57,32:29,28,17,15 1 16375966 92449573 G A 106 off_target VARTYPE=1;BGN=0.000993604;ARL=291;DER=46;DEA=78;QR=34;QA=38;PBP=43;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs13306246,g1000:0.0911,GnomAD_AC_genome:4037,GnomAD_AN_genome:30808,GnomAD:0.1310;SGVEP=CLCNKB|+|NM_000085|9|c.782-147G>A|.|intronic GT:DP:AD:DP4 0/1:22:17,5:9,8,2,3 1 16376038 92449580 G C 282 off_target VARTYPE=1;BGN=0.00119188;ARL=263;DER=62;DEA=81;QR=36;QA=37;PBP=121;PBM=168;TYPE=SNP;DBXREF=dbSNP:rs34176274,g1000:0.0825,GnomAD_AC_genome:3518,GnomAD_AN_genome:30728,GnomAD:0.1145;SGVEP=CLCNKB|+|NM_000085|9|c.782-75G>C|.|intronic GT:DP:AD:DP4 0/1:56:41,14:21,20,6,8 1 16376077 92449600 G C 675 off_target VARTYPE=1;BGN=0.00119188;ARL=223;DER=57;DEA=40;QR=36;QA=37;PBP=340;PBM=344;TYPE=SNP;DBXREF=dbSNP:rs202203515,g1000:0.0006,esp5400:0.0007,GnomAD_AC_exome:92,GnomAD_AN_exome:172024,GnomAD_AC_genome:23,GnomAD_AN_genome:30724,GnomAD:0.0006;SGVEP=CLCNKB|+|NM_000085|9|c.782-36G>C|.|intronic GT:DP:AD:DP4 0/1:133:99,34:51,48,17,17 1 16376191 92449659 C T 981 PASS VARTYPE=1;BGN=0.00119188;ARL=209;DER=69;DEA=85;QR=36;QA=37;PBP=444;PBM=549;TYPE=SNP;DBXREF=dbSNP:rs34188929,g1000:0.8299,esp5400:0.8110,ExAC:0.9090,PhyloP:-1.8760,SIFT:0.1640,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0030,LRT:0.3250,MutationTaster:0.0000,GERP:-6.4800,GnomAD_AC_exome:219230,GnomAD_AN_exome:237082,GnomAD_AC_genome:25390,GnomAD_AN_genome:30360,GnomAD:0.9147;SGVEP=CLCNKB|+|NM_000085|9|c.860C>T|p.(Ala287Val)|missense GT:DP:AD:DP4 0/1:221:170,51:81,89,23,28 1 16376230 92449693 A AT 576 off_target VARTYPE=1;BGN=0.00142973;ARL=230;DER=65;DEA=123;QR=36;QA=36;PBP=249;PBM=336;TYPE=INDEL;DBXREF=dbSNP:rs59006537,GnomAD_AC_exome:184736,GnomAD_AN_exome:199336,GnomAD_AC_genome:24257,GnomAD_AN_genome:29228,GnomAD:0.9144;SGVEP=CLCNKB|+|NM_000085|9|c.866+33_866+34insT|.|intronic GT:DP:AD:DP4 0/1:157:124,32:63,61,14,18 1 16376232 92449704 A T 657 off_target VARTYPE=1;BGN=0.00119188;ARL=232;DER=65;DEA=125;QR=35;QA=37;PBP=311;PBM=355;TYPE=SNP;DBXREF=dbSNP:rs59924562,g1000:0.7542,esp5400:0.6440,ExAC:0.8830,GnomAD_AC_exome:189828,GnomAD_AN_exome:204672,GnomAD_AC_genome:24299,GnomAD_AN_genome:29276,GnomAD:0.9153;SGVEP=CLCNKB|+|NM_000085|9|c.866+35A>T|.|intronic GT:DP:AD:DP4 0/1:148:114,34:56,58,16,18 1 16376238 92449740 TCCCCCC TCCCCC 183 off_target VARTYPE=1;BGN=0.033838;ARL=233;DER=63;DEA=121;QR=36;QA=35;HL=6;PBP=84;PBM=107;SP=1;TYPE=INDEL;DBXREF=dbSNP:rs796211746,g1000:0.8301,GnomAD_AC_exome:188386,GnomAD_AN_exome:205340,GnomAD_AC_genome:24210,GnomAD_AN_genome:29158,GnomAD:0.9066;SGVEP=CLCNKB|+|NM_000085|9|c.866+47del|.|intronic GT:DP:AD:DP4 0/1:155:115,37:57,58,17,20 1 16376278 92449767 G A 1194 off_target VARTYPE=1;BGN=0.00119188;ARL=239;DER=109;DEA=98;QR=36;QA=37;PBP=615;PBM=589;TYPE=SNP;DBXREF=dbSNP:rs7365182,g1000:0.8279,esp5400:0.8108,ExAC:0.9110,GnomAD_AC_exome:224293,GnomAD_AN_exome:243502,GnomAD_AC_genome:25540,GnomAD_AN_genome:30602,GnomAD:0.9115;SGVEP=CLCNKB|+|NM_000085|10|c.867-32G>A|.|intronic GT:DP:AD:DP4 0/1:101:50,51:25,25,26,25 1 16376319 92449810 T C 1910 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=86;DEA=77;QR=36;QA=37;PBP=909;PBM=1015;TYPE=SNP;DBXREF=dbSNP:rs7368151,g1000:0.8301,esp5400:0.8134,ExAC:0.9110,clinvar:rs7368151,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:225851,GnomAD_AN_exome:246222,GnomAD_AC_genome:25713,GnomAD_AN_genome:30724,GnomAD:0.9084;SGVEP=CLCNKB|+|NM_000085|10|c.876T>C|p.(Cys292:)|synonymous GT:DP:AD:DP4 0/1:144:64,80:32,32,38,42 1 16376458 92449965 T C 994 off_target VARTYPE=1;BGN=0.00142973;ARL=231;DER=41;DEA=53;QR=33;QA=36;PBP=507;PBM=496;TYPE=SNP;DBXREF=dbSNP:rs7368166,g1000:0.8301,esp5400:0.8020,ExAC:0.9080,GnomAD_AC_exome:221965,GnomAD_AN_exome:242934,GnomAD_AC_genome:24852,GnomAD_AN_genome:29874,GnomAD:0.9047;SGVEP=CLCNKB|+|NM_000085|10|c.968+47T>C|.|intronic GT:DP:AD:DP4 0/1:71:29,42:13,16,21,21 1 16376953 92450125 C T 493 off_target VARTYPE=1;BGN=0.00119188;ARL=219;DER=59;DEA=46;QR=37;QA=37;PBP=273;PBM=226;TYPE=SNP;DBXREF=dbSNP:rs10927895,g1000:0.0497,esp5400:0.0968,GnomAD_AC_genome:2981,GnomAD_AN_genome:30878,GnomAD:0.0965;SGVEP=CLCNKB|+|NM_000085|11|c.969-58C>T|.|intronic GT:DP:AD:DP4 0/1:34:14,20:8,6,11,9 1 16377363 92450462 G A 994 off_target VARTYPE=1;BGN=0.00119188;ARL=215;DER=66;DEA=82;QR=35;QA=37;PBP=512;PBM=493;TYPE=SNP;DBXREF=dbSNP:rs185451420,esp5400:0.0778,ExAC:0.0710,GnomAD_AC_exome:9999,GnomAD_AN_exome:233674,GnomAD:0.0428;SGVEP=CLCNKB|+|NM_000085|12|c.1054-7G>A|.|intronic GT:DP:AD:DP4 0/1:253:200,53:102,98,27,26 1 16377477 92450559 G T 387 low_variant_fraction VARTYPE=1;BGN=0.00119188;ARL=208;DER=88;DEA=29;QR=36;QA=37;PBP=180;PBM=215;TYPE=SNP;DBXREF=dbSNP:rs13306237,esp5400:0.0004,ExAC:0.0044;SGVEP=CLCNKB|+|NM_000085|12|c.1161G>T|p.(Leu387:)|synonymous GT:DP:AD:DP4 0/1:301:275,26:135,140,12,14 1 16377598 92450661 TGGGGGG TGGGGGGG 194 off_target VARTYPE=1;BGN=0.033838;ARL=234;DER=55;DEA=43;QR=35;QA=34;HL=6;PBP=91;PBM=110;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs149762502,g1000:0.0859,GnomAD_AC_genome:3919,GnomAD_AN_genome:30780,GnomAD:0.1273;SGVEP=CLCNKB|+|NM_000085|12|c.1227+61dupG|.|intronic GT:DP:AD:DP4 0/1:59:35,24:17,18,11,13 1 16377999 92450793 C T 170 PASS VARTYPE=1;BGN=0.000993604;ARL=203;DER=91;DEA=83;QR=36;QA=38;PBP=86;PBM=89;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6650118,g1000:0.0978,esp5400:0.1293,ExAC:0.1010,GnomAD_AC_exome:23686,GnomAD_AN_exome:246234,GnomAD_AC_genome:4366,GnomAD_AN_genome:30844,GnomAD:0.1012;SGVEP=CLCNKB|+|NM_000085|13|c.1254C>T|p.(Thr418:)|synonymous GT:DP:AD:DP4 0/1:32:24,8:13,11,4,4 1 16378000 92450809 A G 172 PASS VARTYPE=1;BGN=0.000993604;ARL=203;DER=92;DEA=84;QR=35;QA=38;PBP=86;PBM=92;SP=2;TYPE=SNP;DBXREF=dbSNP:rs6650119,g1000:0.0982,esp5400:0.1286,ExAC:0.1020,PhyloP:0.0890,SIFT:0.9260,PolyPhen2:0.0850,PolyPhen2_HumDiv:0.0240,LRT:0.9930,MutationTaster:0.0000,GERP:1.9600,GnomAD_AC_exome:23692,GnomAD_AN_exome:246240,GnomAD_AC_genome:4367,GnomAD_AN_genome:30812,GnomAD:0.1013;SGVEP=CLCNKB|+|NM_000085|13|c.1255A>G|p.(Ile419Val)|missense GT:DP:AD:DP4 0/1:30:22,8:13,9,4,4 1 16378093 92450911 A G 155 off_target VARTYPE=1;BGN=0.000993604;ARL=233;DER=76;DEA=113;QR=33;QA=38;PBP=92;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs41269167,g1000:0.0980,esp5400:0.1393,ExAC:0.1010,GnomAD_AC_exome:23542,GnomAD_AN_exome:246080,GnomAD_AC_genome:4318,GnomAD_AN_genome:30732,GnomAD:0.1006;SGVEP=CLCNKB|+|NM_000085|13|c.1297+51A>G|.|intronic GT:DP:AD:DP4 0/1:24:17,7:9,8,4,3 1 16378099 92450913 G C 177 off_target VARTYPE=1;BGN=0.000993604;ARL=233;DER=82;DEA=106;QR=35;QA=38;PBP=90;PBM=92;SP=0;TYPE=SNP;DBXREF=dbSNP:rs182734810,g1000:0.0980,esp5400:0.0009,GnomAD_AC_genome:4312,GnomAD_AN_genome:30770,GnomAD:0.1401;SGVEP=CLCNKB|+|NM_000085|13|c.1297+57G>C|.|intronic GT:DP:AD:DP4 0/1:27:19,8:10,9,4,4 1 16378100 92450924 C A 166 off_target VARTYPE=1;BGN=0.00142973;ARL=233;DER=83;DEA=107;QR=34;QA=36;PBP=84;PBM=87;SP=0;TYPE=SNP;DBXREF=dbSNP:rs576064910,g1000:0.0980,GnomAD_AC_genome:4310,GnomAD_AN_genome:30772,GnomAD:0.1401;SGVEP=CLCNKB|+|NM_000085|13|c.1297+58C>A|.|intronic GT:DP:AD:DP4 0/1:26:18,8:10,8,4,4 1 16378215 92451020 C T 801 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=83;DEA=55;QR=36;QA=37;PBP=418;PBM=392;TYPE=SNP;DBXREF=dbSNP:rs5252,g1000:0.0980,esp5400:0.1430,ExAC:0.1010,GnomAD_AC_exome:23666,GnomAD_AN_exome:245918,GnomAD_AC_genome:4374,GnomAD_AN_genome:30804,GnomAD:0.1013;SGVEP=CLCNKB|+|NM_000085|14|c.1308C>T|p.(Ile436:)|synonymous GT:DP:AD:DP4 0/1:77:40,35:20,20,18,17 1 16378331 92451176 G C 694 off_target VARTYPE=1;BGN=0.00142973;ARL=218;DER=60;DEA=66;QR=36;QA=36;PBP=325;PBM=377;TYPE=SNP;DBXREF=dbSNP:rs41269169,g1000:0.0980,esp5400:0.1325,ExAC:0.1010,GnomAD_AC_exome:23333,GnomAD_AN_exome:244004,GnomAD_AC_genome:4326,GnomAD_AN_genome:30772,GnomAD:0.1007;SGVEP=CLCNKB|+|NM_000085|14|c.1408+16G>C|.|intronic GT:DP:AD:DP4 0/1:56:26,30:13,13,14,16 1 16378339 92451184 C G 547 off_target VARTYPE=1;BGN=0.00142973;ARL=223;DER=59;DEA=70;QR=36;QA=36;PBP=226;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs41269171,g1000:0.0980,esp5400:0.1408,ExAC:0.1010,GnomAD_AC_exome:23275,GnomAD_AN_exome:243672,GnomAD_AC_genome:4342,GnomAD_AN_genome:30788,GnomAD:0.1006;SGVEP=CLCNKB|+|NM_000085|14|c.1408+24C>G|.|intronic GT:DP:AD:DP4 0/1:48:24,24:12,12,10,14 1 16378725 92451411 A T 1960 PASS VARTYPE=1;BGN=0.00119188;ARL=212;DER=83;DEA=62;QR=36;QA=37;PBP=1033;PBM=943;TYPE=SNP;DBXREF=dbSNP:rs12140311,g1000:0.0980,esp5400:0.1425,ExAC:0.1010,PhyloP:-1.0670,SIFT:0.9360,PolyPhen2:0.1860,PolyPhen2_HumDiv:0.0690,LRT:0.9930,MutationTaster:0.5630,GERP:-3.2800,GnomAD_AC_exome:23488,GnomAD_AN_exome:245166,GnomAD_AC_genome:4379,GnomAD_AN_genome:30906,GnomAD:0.1009;SGVEP=CLCNKB|+|NM_000085|15|c.1441A>T|p.(Thr481Ser)|missense GT:DP:AD:DP4 0/1:231:141,90:73,68,47,43 1 16378811 92451553 C T 10000 PASS VARTYPE=1;BGN=0.00142973;ARL=213;DER=100;DEA=101;QR=36;QA=36;PBP=1768;PBM=1910;TYPE=SNP;DBXREF=dbSNP:rs61731106,g1000:0.0196,esp5400:0.0181,ExAC:0.0046,GnomAD_AC_exome:916,GnomAD_AN_exome:245490,GnomAD_AC_genome:453,GnomAD_AN_genome:30958,GnomAD:0.0050;SGVEP=CLCNKB|+|NM_000085|15|c.1527C>T|p.(Asn509:)|synonymous GT:DP:AD:DP4 0/1:349:183,166:90,93,80,86 1 16378931 92451678 A G 2168 off_target VARTYPE=1;BGN=0.00119188;ARL=230;DER=71;DEA=58;QR=36;QA=37;PBP=973;PBM=1211;TYPE=SNP;DBXREF=dbSNP:rs56334930,g1000:0.1006,esp5400:0.0700,ExAC:0.0860,GnomAD_AC_exome:17702,GnomAD_AN_exome:234632,GnomAD_AC_genome:4427,GnomAD_AN_genome:30882,GnomAD:0.0833;SGVEP=CLCNKB|+|NM_000085|15|c.1622+25A>G|.|intronic GT:DP:AD:DP4 0/1:148:59,89:29,30,40,49 1 16378936 92451681 AGGGGG AGGGG 689 off_target VARTYPE=1;BGN=0.0262873;ARL=230;DER=52;DEA=68;QR=35;QA=36;HL=5;PBP=323;PBM=375;TYPE=INDEL;DBXREF=dbSNP:rs112905730,g1000:0.1006,ExAC:0.0830,GnomAD_AC_exome:15851,GnomAD_AN_exome:232398,GnomAD_AC_genome:4425,GnomAD_AN_genome:30876,GnomAD:0.0770;SGVEP=CLCNKB|+|NM_000085|15|c.1622+35del|.|intronic GT:DP:AD:DP4 0/1:151:79,71:38,41,33,38 1 16378938 92451692 G A 1558 off_target VARTYPE=1;BGN=0.00142973;ARL=238;DER=63;DEA=66;QR=36;QA=36;PBP=713;PBM=857;TYPE=SNP;DBXREF=dbSNP:rs532929313,g1000:0.1006,ExAC:0.0830,GnomAD_AC_exome:15690,GnomAD_AN_exome:231912,GnomAD_AC_genome:4427,GnomAD_AN_genome:30898,GnomAD:0.0765;SGVEP=CLCNKB|+|NM_000085|15|c.1622+32G>A|.|intronic GT:DP:AD:DP4 0/1:127:59,68:28,31,31,37 1 16378945 92451730 C T 1661 off_target VARTYPE=1;BGN=0.00119188;ARL=238;DER=60;DEA=59;QR=37;QA=37;PBP=774;PBM=900;TYPE=SNP;DBXREF=dbSNP:rs56331467,g1000:0.1006,esp5400:0.0481,ExAC:0.0830,GnomAD_AC_exome:13827,GnomAD_AN_exome:228230,GnomAD_AC_genome:4427,GnomAD_AN_genome:30886,GnomAD:0.0704;SGVEP=CLCNKB|+|NM_000085|15|c.1622+39C>T|.|intronic GT:DP:AD:DP4 0/1:121:52,69:25,27,32,37 1 16378951 92451734 T C 1684 off_target VARTYPE=1;BGN=0.00119188;ARL=241;DER=59;DEA=54;QR=35;QA=37;PBP=785;PBM=912;TYPE=SNP;DBXREF=dbSNP:rs56152056,g1000:0.1006,esp5400:0.0352,ExAC:0.0810,GnomAD_AC_exome:12458,GnomAD_AN_exome:225654,GnomAD_AC_genome:4430,GnomAD_AN_genome:30854,GnomAD:0.0658;SGVEP=CLCNKB|+|NM_000085|15|c.1622+45T>C|.|intronic GT:DP:AD:DP4 0/1:115:45,69:22,23,32,37 1 16378954 92451738 G A 1594 off_target VARTYPE=1;BGN=0.00171504;ARL=242;DER=61;DEA=51;QR=35;QA=35;PBP=743;PBM=862;TYPE=SNP;DBXREF=dbSNP:rs56112410,g1000:0.0749,esp5400:0.0253,ExAC:0.0720,GnomAD_AC_exome:11211,GnomAD_AN_exome:226364,GnomAD_AC_genome:3682,GnomAD_AN_genome:30912,GnomAD:0.0579;SGVEP=CLCNKB|+|NM_000085|15|c.1622+48G>A|.|intronic GT:DP:AD:DP4 0/1:111:42,69:20,22,32,37 1 16378980 92451761 G C 964 off_target VARTYPE=1;BGN=0.00142973;ARL=255;DER=48;DEA=44;QR=35;QA=36;PBP=396;PBM=578;TYPE=SNP;DBXREF=dbSNP:rs56327038,g1000:0.1034,GnomAD_AC_genome:4593,GnomAD_AN_genome:30828,GnomAD:0.1490;SGVEP=CLCNKB|+|NM_000085|15|c.1622+74G>C|.|intronic GT:DP:AD:DP4 0/1:71:30,41:15,15,17,24 1 16378991 92451773 G A 804 off_target VARTYPE=1;BGN=0.00142973;ARL=259;DER=41;DEA=40;QR=35;QA=36;PBP=328;PBM=485;TYPE=SNP;DBXREF=dbSNP:rs56361591,g1000:0.1014,GnomAD_AC_genome:4450,GnomAD_AN_genome:30644,GnomAD:0.1452;SGVEP=CLCNKB|+|NM_000085|15|c.1622+85G>A|.|intronic GT:DP:AD:DP4 0/1:58:24,34:12,12,14,20 1 16378998 92451781 T C 620 off_target VARTYPE=1;BGN=0.00119188;ARL=259;DER=48;DEA=45;QR=35;QA=37;PBP=222;PBM=404;TYPE=SNP;DBXREF=dbSNP:rs55874146,g1000:0.1006,GnomAD_AC_genome:4428,GnomAD_AN_genome:30610,GnomAD:0.1447;SGVEP=CLCNKB|+|NM_000085|15|c.1622+92T>C|.|intronic GT:DP:AD:DP4 0/1:41:16,25:7,9,9,16 1 16379052 92451836 C G 102 low_coverage;off_target VARTYPE=1;BGN=0.00355106;ARL=278;DER=17;DEA=44;QR=30;QA=31;PBP=44;PBM=61;SP=0;TYPE=SNP;DBXREF=dbSNP:rs55921124,g1000:0.0777,GnomAD_AC_genome:3772,GnomAD_AN_genome:30900,GnomAD:0.1221;SGVEP=CLCNKB|+|NM_000085|15|c.1622+146C>G|.|intronic GT:DP:AD:DP4 0/1:9:4,5:1,3,2,3 1 16380196 92452248 T C 1806 PASS VARTYPE=1;BGN=0.00119188;ARL=217;DEA=101;QA=37;PBP=875;PBM=934;TYPE=SNP;DBXREF=dbSNP:rs5253,g1000:0.8383,esp5400:0.8890,ExAC:0.9310,PhyloP:-1.0980,SIFT:0.2110,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0000,LRT:0.5070,MutationTaster:0.0000,GERP:-3.7300,GnomAD_AC_exome:230174,GnomAD_AN_exome:246082,GnomAD_AC_genome:27301,GnomAD_AN_genome:30894,GnomAD:0.9296;SGVEP=CLCNKB|+|NM_000085|16|c.1685T>C|p.(Met562Thr)|missense GT:DP:AD:DP4 1/1:62:0,62:0,0,30,32 1 16380243 92452311 A G 1341 PASS VARTYPE=1;BGN=0.00119188;ARL=230;DEA=78;QA=37;PBP=642;PBM=701;TYPE=SNP;DBXREF=dbSNP:rs2275166,g1000:0.7017,esp5400:0.7037,ExAC:0.6580,PhyloP:-0.0940,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.9830,MutationTaster:0.0000,GERP:1.4100,GnomAD_AC_exome:160011,GnomAD_AN_exome:245146,GnomAD_AC_genome:22043,GnomAD_AN_genome:30786,GnomAD:0.6598;SGVEP=CLCNKB|+|NM_000085|16|c.1732A>G|p.(Lys578Glu)|missense GT:DP:AD:DP4 1/1:46:0,46:0,0,22,24 1 16380252 92452315 C T 1283 PASS VARTYPE=1;BGN=0.00119188;ARL=227;DEA=72;QA=37;PBP=613;PBM=671;TYPE=SNP;DBXREF=dbSNP:rs2275167,g1000:0.6136,esp5400:0.6154,ExAC:0.6210,GnomAD_AC_exome:151614,GnomAD_AN_exome:245310,GnomAD_AC_genome:19730,GnomAD_AN_genome:30770,GnomAD:0.6206;SGVEP=CLCNKB|+|NM_000085|16|c.1741C>T|p.(Leu581:)|synonymous GT:DP:AD:DP4 1/1:44:0,44:0,0,21,23 1 16380337 92452401 G A 341 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=283;DEA=81;QA=36;PBP=171;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs41269173,g1000:0.0847,GnomAD_AC_genome:4653,GnomAD_AN_genome:30856,GnomAD:0.1508;SGVEP=CLCNKB|+|NM_000085|16|c.1756+70G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 16383448 92454153 A C 10000 off_target VARTYPE=1;BGN=0.00142973;ARL=207;DEA=51;QA=36;PBP=1277;PBM=2125;TYPE=SNP;DBXREF=dbSNP:rs10803415,g1000:0.9010,esp5400:0.9555,ExAC:0.9390,GnomAD_AC_exome:212952,GnomAD_AN_exome:235088,GnomAD:0.9058;SGVEP=CLCNKB|+|NM_000085|20|c.*37A>C|.|3'UTR GT:DP:AD:DP4 1/1:120:0,120:0,0,45,75 1 16464673 92574218 G A 914 PASS VARTYPE=1;BGN=0.00142973;ARL=226;DER=85;DEA=86;QR=36;QA=36;PBP=418;PBM=506;TYPE=SNP;DBXREF=dbSNP:rs2230597,g1000:0.3494,esp5400:0.3889,ExAC:0.3710,clinvar:rs2230597,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:90276,GnomAD_AN_exome:239162,GnomAD_AC_genome:11310,GnomAD_AN_genome:30850,GnomAD:0.3762;SGVEP=EPHA2|-|NM_001329090|4|c.825C>T|p.(Pro275:)|synonymous GT:DP:AD:DP4 0/1:122:78,44:37,41,20,24 1 16474839 92580069 ACCCCC ACCCC 241 off_target VARTYPE=1;BGN=0.0262873;ARL=228;DER=58;DEA=72;QR=38;QA=36;HL=5;PBP=121;PBM=127;TYPE=INDEL;DBXREF=dbSNP:rs35127370,g1000:0.3474,ExAC:0.3610,GnomAD_AC_exome:88864,GnomAD_AN_exome:244342,GnomAD_AC_genome:11917,GnomAD_AN_genome:30848,GnomAD:0.3662;SGVEP=EPHA2|-|NM_001329090|2|c.661+33del|.|intronic GT:DP:AD:DP4 0/1:50:25,24:14,11,12,12 1 16475123 92580837 C T 932 PASS VARTYPE=1;BGN=0.00119188;ARL=221;DER=91;DEA=110;QR=37;QA=37;PBP=460;PBM=483;TYPE=SNP;DBXREF=dbSNP:rs6678616,g1000:0.2264,esp5400:0.2832,ExAC:0.2910,clinvar:rs6678616,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:72172,GnomAD_AN_exome:241468,GnomAD_AC_genome:8017,GnomAD_AN_genome:30854,GnomAD:0.2945;SGVEP=EPHA2|-|NM_001329090|2|c.411G>A|p.(Leu137:)|synonymous GT:DP:AD:DP4 0/1:146:101,45:50,51,22,23 1 16475126 92580852 C T 835 PASS VARTYPE=1;BGN=0.00119188;ARL=224;DER=93;DEA=115;QR=37;QA=37;PBP=411;PBM=435;TYPE=SNP;DBXREF=dbSNP:rs6678618,g1000:0.2266,esp5400:0.2833,ExAC:0.2910,clinvar:rs6678618,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:72143,GnomAD_AN_exome:241468,GnomAD_AC_genome:8011,GnomAD_AN_genome:30834,GnomAD:0.2944;SGVEP=EPHA2|-|NM_001329090|2|c.408G>A|p.(Ala136:)|synonymous GT:DP:AD:DP4 0/1:143:102,41:51,51,20,21 1 16725330 92735940 G A 184 off_target VARTYPE=1;BGN=0.00142973;ARL=220;DER=82;DEA=83;QR=37;QA=36;PBP=95;PBM=95;SP=0;TYPE=SNP;DBXREF=dbSNP:rs41307763,g1000:0.0603,esp5400:0.0759,ExAC:0.0900,GnomAD_AC_exome:21629,GnomAD_AN_exome:243400,GnomAD_AC_genome:2727,GnomAD_AN_genome:30886,GnomAD:0.0888;SGVEP=SPATA21|-|NM_198546|13|c.1353-13C>T|.|intronic GT:DP:AD:DP4 0/1:50:40,10:20,20,5,5 1 16730582 92737945 C G 171 off_target VARTYPE=1;BGN=0.000993604;ARL=238;DER=84;DEA=15;QR=36;QA=38;PBP=89;PBM=88;SP=0;TYPE=SNP;DBXREF=dbSNP:rs17419150,g1000:0.3700,esp5400:0.2941,ExAC:0.2540,GnomAD_AC_exome:60623,GnomAD_AN_exome:148814,GnomAD_AC_genome:11009,GnomAD_AN_genome:30864,GnomAD:0.3987;SGVEP=SPATA21|-|NM_198546|9|c.812-48G>C|.|intronic GT:DP:AD:DP4 0/1:31:23,8:11,12,4,4 1 16731646 92738335 T C 1225 off_target VARTYPE=1;BGN=0.00119188;ARL=242;DEA=36;QA=37;PBP=584;PBM=642;TYPE=SNP;DBXREF=dbSNP:rs3106498,g1000:0.9611,esp5400:0.9600,ExAC:0.9890,GnomAD_AC_exome:198981,GnomAD_AN_exome:200642,GnomAD_AC_genome:29797,GnomAD_AN_genome:30830,GnomAD:0.9884;SGVEP=SPATA21|-|NM_198546|8|c.674-47A>G|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,20,22 1 16731647 92738345 G C 770 off_target VARTYPE=1;BGN=0.00119188;ARL=242;DER=38;DEA=35;QR=36;QA=37;PBP=391;PBM=386;TYPE=SNP;DBXREF=dbSNP:rs526481,g1000:0.4629,esp5400:0.2731,ExAC:0.4970,GnomAD_AC_exome:100640,GnomAD_AN_exome:199316,GnomAD_AC_genome:14719,GnomAD_AN_genome:30734,GnomAD:0.5015;SGVEP=SPATA21|-|NM_198546|8|c.674-48C>G|.|intronic GT:DP:AD:DP4 0/1:43:13,30:6,7,15,15 1 16731653 92738351 C T 687 off_target VARTYPE=1;BGN=0.00119188;ARL=242;DER=32;DEA=32;QR=35;QA=37;PBP=335;PBM=358;TYPE=SNP;DBXREF=dbSNP:rs526489,g1000:0.3672,GnomAD_AC_genome:10839,GnomAD_AN_genome:30738,GnomAD:0.3526;SGVEP=SPATA21|-|NM_198546|8|c.674-54G>A|.|intronic GT:DP:AD:DP4 0/1:40:13,27:6,7,13,14 1 16731661 92738364 T C 423 off_target VARTYPE=1;BGN=0.00142973;ARL=256;DER=25;DEA=41;QR=33;QA=36;PBP=232;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs526513,g1000:0.4631,GnomAD_AC_genome:14717,GnomAD_AN_genome:30728,GnomAD:0.4789;SGVEP=SPATA21|-|NM_198546|8|c.674-62A>G|.|intronic GT:DP:AD:DP4 0/1:25:8,17:3,5,9,8 1 16736132 92739702 T C 1980 PASS VARTYPE=1;BGN=0.00119188;ARL=228;DEA=93;QA=37;PBP=1050;PBM=934;TYPE=SNP;DBXREF=dbSNP:rs4661746,g1000:0.1528,esp5400:0.2320,ExAC:0.2450,PhyloP:-0.0660,SIFT:0.9160,PolyPhen2:0.0230,PolyPhen2_HumDiv:0.1440,LRT:0.1420,MutationTaster:0.0000,GERP:-1.7600,GnomAD_AC_exome:60172,GnomAD_AN_exome:243672,GnomAD_AC_genome:7242,GnomAD_AN_genome:30854,GnomAD:0.2456;SGVEP=SPATA21|-|NM_198546|6|c.551A>G|p.(Gln184Arg)|missense GT:DP:AD:DP4 1/1:68:0,68:0,0,36,32 1 16736546 92740160 C T 1220 off_target VARTYPE=1;BGN=0.00142973;ARL=238;DEA=89;QA=36;PBP=540;PBM=682;TYPE=SNP;DBXREF=dbSNP:rs10907226,g1000:0.6206,esp5400:0.6438,ExAC:0.6140,GnomAD_AC_exome:112590,GnomAD_AN_exome:176128,GnomAD_AC_genome:20422,GnomAD_AN_genome:30820,GnomAD:0.6427;SGVEP=SPATA21|-|NM_198546|6|c.145-8G>A|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,19,24 1 17312743 96551 C T 1743 PASS VARTYPE=1;BGN=0.00119188;ARL=220;DER=106;DEA=106;QR=36;QA=37;PBP=909;PBM=849;TYPE=SNP;DBXREF=dbSNP:rs3170740,g1000:0.3313,esp5400:0.4199,ExAC:0.4550,PhyloP:-1.7070,SIFT:0.0120,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,MutationTaster:0.9690,GERP:-7.1100,clinvar:rs3170740,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:109189,GnomAD_AN_exome:231622,GnomAD_AC_genome:12632,GnomAD_AN_genome:30664,GnomAD:0.4645;SGVEP=ATP13A2|-|NM_001141974|27|c.3214G>A|p.(Ala1072Thr)|missense GT:DP:AD:DP4 0/1:182:104,78:50,54,40,38 1 17313157 93167627 G A 950 off_target VARTYPE=1;BGN=0.00142973;ARL=240;DER=103;DEA=53;QR=36;QA=36;PBP=466;PBM=492;NVF=0.55;TYPE=SNP;DBXREF=dbSNP:rs2076605,g1000:0.3468,esp5400:0.4186,ExAC:0.4390,GnomAD_AC_exome:96169,GnomAD_AN_exome:203578,GnomAD_AC_genome:12787,GnomAD_AN_genome:30644,GnomAD:0.4652;SGVEP=ATP13A2|-|NM_001141973|28|c.3221-30C>T|.|intronic GT:DP:AD:DP4 0/1:75:34,41:17,17,20,21 1 17313244 93167663 CCCCAGGGCTCCT C 450 off_target VARTYPE=1;BGN=0.000993604;ARL=255;DER=101;DEA=114;QR=36;QA=438;PBP=261;PBM=199;NVF=0.73;TYPE=INDEL;DBXREF=dbSNP:rs377380258,g1000:0.3051,GnomAD_AC_genome:7273,GnomAD_AN_genome:30808,GnomAD:0.2361;SGVEP=ATP13A2|-|NM_001141973|27|c.3220+44_3220+55del|.|intronic GT:DP:AD:DP4 0/1:33:14,18:6,8,10,8 1 17313343 96553 G A 989 PASS VARTYPE=1;BGN=0.00119188;ARL=210;DER=85;DEA=68;QR=36;QA=37;PBP=596;PBM=403;NVF=0.44;TYPE=SNP;DBXREF=dbSNP:rs9435659,g1000:0.3385,esp5400:0.4131,ExAC:0.4590,clinvar:rs9435659,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:114242,GnomAD_AN_exome:244682,GnomAD_AC_genome:12708,GnomAD_AN_genome:30830,GnomAD:0.4608;SGVEP=ATP13A2|-|NM_001141973|27|c.3177C>T|p.(Ala1059:)|synonymous GT:DP:AD:DP4 0/1:103:59,44:32,27,26,18 1 17313454 96555 G A 1100 PASS VARTYPE=1;BGN=0.00142973;ARL=234;DER=99;DEA=114;QR=35;QA=36;PBP=646;PBM=463;NVF=0.56;TYPE=SNP;DBXREF=dbSNP:rs7531163,g1000:0.3065,esp5400:0.2187,ExAC:0.2730,clinvar:rs7531163,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:69110,GnomAD_AN_exome:245848,GnomAD_AC_genome:7369,GnomAD_AN_genome:30682,GnomAD:0.2766;SGVEP=ATP13A2|-|NM_001141973|27|c.3069-3C>T|.|intronic GT:DP:AD:DP4 0/1:91:43,48:25,18,28,20 1 17313654 96556 C T 2361 PASS VARTYPE=1;BGN=0.00142973;ARL=219;DER=101;DEA=101;QR=36;QA=36;PBP=1129;PBM=1251;TYPE=SNP;DBXREF=dbSNP:rs761421,g1000:0.3462,esp5400:0.4205,ExAC:0.4600,clinvar:rs761421,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:113744,GnomAD_AN_exome:243584,GnomAD_AC_genome:12864,GnomAD_AN_genome:30796,GnomAD:0.4614;SGVEP=ATP13A2|-|NM_001141973|26|c.2955G>A|p.(Val985:)|synonymous GT:DP:AD:DP4 0/1:226:119,107:59,60,51,56 1 17314702 96560 C T 1020 PASS VARTYPE=1;BGN=0.00142973;ARL=229;DER=91;DEA=111;QR=35;QA=36;PBP=564;PBM=466;TYPE=SNP;DBXREF=dbSNP:rs3738815,g1000:0.2909,esp5400:0.1804,ExAC:0.2410,clinvar:rs3738815,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:61263,GnomAD_AN_exome:246222,GnomAD_AC_genome:6614,GnomAD_AN_genome:30872,GnomAD:0.2450;SGVEP=ATP13A2|-|NM_001141973|25|c.2775G>A|p.(Ser925:)|synonymous GT:DP:AD:DP4 0/1:99:53,46:27,26,25,21 1 17314942 96562 G A 1562 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=77;DEA=68;QR=37;QA=37;PBP=728;PBM=847;TYPE=SNP;DBXREF=dbSNP:rs9435662,g1000:0.3387,esp5400:0.4119,ExAC:0.4580,clinvar:rs9435662,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:114415,GnomAD_AN_exome:246060,GnomAD_AC_genome:12660,GnomAD_AN_genome:30856,GnomAD:0.4589;SGVEP=ATP13A2|-|NM_001141973|24|c.2622C>T|p.(Gly874:)|synonymous GT:DP:AD:DP4 0/1:133:66,67:31,35,31,36 1 17319011 96568 G A 610 PASS VARTYPE=1;BGN=0.00171504;ARL=237;DER=92;DEA=102;QR=36;QA=35;PBP=276;PBM=341;TYPE=SNP;DBXREF=dbSNP:rs2076603,g1000:0.4485,esp5400:0.5671,ExAC:0.5540,clinvar:rs2076603,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:137264,GnomAD_AN_exome:246166,GnomAD_AC_genome:16732,GnomAD_AN_genome:30888,GnomAD:0.5558;SGVEP=ATP13A2|-|NM_001141973|17|c.1800C>T|p.(Pro600:)|synonymous GT:DP:AD:DP4 0/1:68:38,29:18,20,13,16 1 17323449 93176480 T C 994 off_target VARTYPE=1;BGN=0.00142973;ARL=251;DEA=48;QA=36;PBP=568;PBM=426;TYPE=SNP;DBXREF=dbSNP:rs9435736,g1000:0.7925,GnomAD_AC_genome:24759,GnomAD_AN_genome:30852,GnomAD:0.8025;SGVEP=ATP13A2|-|NM_001141973|12|c.1180+66A>G|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,20,15 1 17331676 93185019 A G 368 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=237;DER=37;DEA=48;QR=35;QA=37;PBP=189;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs3738814,g1000:0.6030,GnomAD_AC_genome:16074,GnomAD_AN_genome:30800,GnomAD:0.5219;SGVEP=ATP13A2|-|NM_001141973|4|c.289-109T>C|.|intronic GT:DP:AD:DP4 0/1:19:5,14:2,3,7,7 1 17359676 93207483 C A 1283 off_target VARTYPE=1;BGN=0.00119188;ARL=226;DEA=48;QA=37;PBP=642;PBM=642;TYPE=SNP;DBXREF=dbSNP:rs1022580,g1000:0.9591,esp5400:0.9522,ExAC:0.9710,clinvar:rs1022580,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:236715,GnomAD_AN_exome:243162,GnomAD_AC_genome:29679,GnomAD_AN_genome:30970,GnomAD:0.9718;SGVEP=SDHB|-|NM_003000|3|c.201-36G>T|.|intronic GT:DP:AD:DP4 1/1:44:0,44:0,0,22,22 1 17380497 96710 G T 1690 PASS VARTYPE=1;BGN=0.00119188;ARL=211;DEA=102;QA=37;PBP=846;PBM=846;TYPE=SNP;DBXREF=dbSNP:rs2746462,g1000:0.9571,esp5400:0.9517,ExAC:0.9700,clinvar:rs2746462,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:230285,GnomAD_AN_exome:236514,GnomAD_AC_genome:29643,GnomAD_AN_genome:30952,GnomAD:0.9718;SGVEP=SDHB|-|NM_003000|1|c.18C>A|p.(Ala6:)|synonymous GT:DP:AD:DP4 1/1:58:0,58:0,0,29,29 1 17657534 93483968 G A 1033 PASS VARTYPE=1;BGN=0.00119188;ARL=216;DER=99;DEA=92;QR=36;QA=37;PBP=521;PBM=521;TYPE=SNP;DBXREF=dbSNP:rs11203366,g1000:0.5246,esp5400:0.5441,ExAC:0.5610,PhyloP:-1.9600,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.4500,MutationTaster:0.0000,GERP:-10.9000,GnomAD_AC_exome:134916,GnomAD_AN_exome:241230,GnomAD_AC_genome:17229,GnomAD_AN_genome:30884,GnomAD:0.5591;SGVEP=PADI4|+|NM_012387|2|c.163G>A|p.(Gly55Ser)|missense GT:DP:AD:DP4 0/1:108:62,46:31,31,23,23 1 17657616 93484074 T C 704 PASS VARTYPE=1;BGN=0.00119188;ARL=228;DER=67;DEA=81;QR=34;QA=37;PBP=336;PBM=376;TYPE=SNP;DBXREF=dbSNP:rs11203367,g1000:0.5333,esp5400:0.5523,ExAC:0.5640,PhyloP:0.8460,SIFT:0.1820,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9130,MutationTaster:0.0000,GERP:4.6600,GnomAD_AC_exome:136367,GnomAD_AN_exome:242674,GnomAD_AC_genome:17455,GnomAD_AN_genome:30904,GnomAD:0.5623;SGVEP=PADI4|+|NM_012387|2|c.245T>C|p.(Val82Ala)|missense GT:DP:AD:DP4 0/1:83:51,32:23,28,15,17 1 17660499 93485073 G C 251 PASS VARTYPE=1;BGN=0.000993604;ARL=214;DER=59;DEA=74;QR=36;QA=38;PBP=115;PBM=141;TYPE=SNP;DBXREF=dbSNP:rs874881,g1000:0.5220,esp5400:0.5282,ExAC:0.5460,PhyloP:2.3390,SIFT:0.6370,PolyPhen2:0.1900,PolyPhen2_HumDiv:0.6390,LRT:1.0000,MutationTaster:0.7100,GERP:4.7400,GnomAD_AC_exome:134206,GnomAD_AN_exome:246062,GnomAD_AC_genome:16653,GnomAD_AN_genome:30844,GnomAD:0.5448;SGVEP=PADI4|+|NM_012387|3|c.335G>C|p.(Gly112Ala)|missense GT:DP:AD:DP4 0/1:31:20,11:10,10,5,6 1 17662541 93485778 A C 172 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=235;DER=61;DEA=33;QR=37;QA=38;PBP=102;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1748034,g1000:0.6104,GnomAD_AC_genome:20437,GnomAD_AN_genome:30848,GnomAD:0.6625;SGVEP=PADI4|+|NM_012387|4|c.341-113A>C|.|intronic GT:DP:AD:DP4 0/1:15:8,7:4,4,4,3 1 17662639 93485870 T C 413 off_target VARTYPE=1;BGN=0.000993604;ARL=200;DER=61;DEA=85;QR=37;QA=38;PBP=223;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs2240340,g1000:0.5152,esp5400:0.5386,ExAC:0.5590,GnomAD_AC_exome:136838,GnomAD_AN_exome:244648,GnomAD_AC_genome:17038,GnomAD_AN_genome:30856,GnomAD:0.5585;SGVEP=PADI4|+|NM_012387|4|c.341-15T>C|.|intronic GT:DP:AD:DP4 0/1:35:18,17:9,9,9,8 1 17662662 93485883 T C 505 PASS VARTYPE=1;BGN=0.00119188;ARL=217;DER=59;DEA=96;QR=36;QA=37;PBP=255;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs1748033,g1000:0.5919,esp5400:0.6336,ExAC:0.6360,GnomAD_AC_exome:155253,GnomAD_AN_exome:245420,GnomAD_AC_genome:20021,GnomAD_AN_genome:30860,GnomAD:0.6344;SGVEP=PADI4|+|NM_012387|4|c.349T>C|p.(Leu117:)|synonymous GT:DP:AD:DP4 0/1:49:27,22:14,13,11,11 1 17662751 93486015 C G 318 off_target VARTYPE=1;BGN=0.00119188;ARL=234;DER=96;DEA=89;QR=37;QA=37;PBP=136;PBM=187;TYPE=SNP;DBXREF=dbSNP:rs1621005,g1000:0.6044,esp5400:0.6418,ExAC:0.6370,GnomAD_AC_exome:154882,GnomAD_AN_exome:243986,GnomAD_AC_genome:20302,GnomAD_AN_genome:30928,GnomAD:0.6372;SGVEP=PADI4|+|NM_012387|4|c.408+30C>G|.|intronic GT:DP:AD:DP4 0/1:34:20,14:10,10,6,8 1 17662804 93486070 C T 167 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=274;DER=113;DEA=55;QR=37;QA=37;PBP=72;PBM=98;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1748032,g1000:0.6036,GnomAD_AC_genome:19866,GnomAD_AN_genome:30922,GnomAD:0.6425;SGVEP=PADI4|+|NM_012387|4|c.408+83C>T|.|intronic GT:DP:AD:DP4 0/1:15:8,7:4,4,3,4 1 17666095 93487219 T C 355 off_target VARTYPE=1;BGN=0.00119188;ARL=268;DER=45;DEA=51;QR=36;QA=37;PBP=227;PBM=134;TYPE=SNP;DBXREF=dbSNP:rs1635578,g1000:0.5962,GnomAD_AC_genome:20027,GnomAD_AN_genome:30836,GnomAD:0.6495;SGVEP=PADI4|+|NM_012387|6|c.527-88T>C|.|intronic GT:DP:AD:DP4 0/1:42:25,16:15,10,10,6 1 17672730 93489871 G A 515 off_target VARTYPE=1;BGN=0.00119188;ARL=258;DER=25;DEA=48;QR=36;QA=37;PBP=217;PBM=302;TYPE=SNP;DBXREF=dbSNP:rs2301888,g1000:0.3630,GnomAD_AC_genome:9553,GnomAD_AN_genome:30814,GnomAD:0.3100;SGVEP=PADI4|+|NM_012387|9|c.1047+96G>A|.|intronic GT:DP:AD:DP4 1/1:23:4,19:2,2,8,11 1 17674402 93490306 C T 939 off_target VARTYPE=1;BGN=0.00119188;ARL=219;DER=46;DEA=57;QR=37;QA=37;PBP=512;PBM=436;TYPE=SNP;DBXREF=dbSNP:rs2240336,g1000:0.4994,esp5400:0.4464,ExAC:0.4370,GnomAD_AC_exome:77465,GnomAD_AN_exome:181042,GnomAD_AC_genome:13867,GnomAD_AN_genome:30870,GnomAD:0.4310;SGVEP=PADI4|+|NM_012387|10|c.1048-34C>T|.|intronic GT:DP:AD:DP4 0/1:70:31,39:16,15,21,18 1 17674537 93490476 C A 1355 PASS VARTYPE=1;BGN=0.00142973;ARL=223;DER=76;DEA=87;QR=37;QA=36;PBP=668;PBM=697;TYPE=SNP;DBXREF=dbSNP:rs2240335,g1000:0.4213,esp5400:0.3620,ExAC:0.3880,GnomAD_AC_exome:95102,GnomAD_AN_exome:244676,GnomAD_AC_genome:11316,GnomAD_AN_genome:30854,GnomAD:0.3862;SGVEP=PADI4|+|NM_012387|10|c.1149C>A|p.(Arg383:)|synonymous GT:DP:AD:DP4 0/1:110:51,59:26,25,29,30 1 17681277 93493610 T C 256 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=254;DEA=54;QA=36;PBP=85;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs6683201,g1000:0.7754,GnomAD_AC_genome:22947,GnomAD_AN_genome:30894,GnomAD:0.7428;SGVEP=PADI4|+|NM_012387|11|c.1310+95T>C|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,3,6 1 17683041 93494502 T C 442 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=278;DEA=58;QA=35;PBP=194;PBM=249;TYPE=SNP;DBXREF=dbSNP:rs1635567,g1000:0.7530,GnomAD_AC_genome:22826,GnomAD_AN_genome:30852,GnomAD:0.7399;SGVEP=PADI4|+|NM_012387|13|c.1558+87T>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,7,9 1 17685466 93495617 C A 232 off_target VARTYPE=1;BGN=0.00119188;ARL=239;DER=60;DEA=43;QR=37;QA=37;PBP=92;PBM=146;SP=2;TYPE=SNP;DBXREF=dbSNP:rs34481461,g1000:0.1486,esp5400:0.1630,GnomAD_AC_genome:4058,GnomAD_AN_genome:30918,GnomAD:0.1313;SGVEP=PADI4|+|NM_012387|14|c.1629+63C>A|.|intronic GT:DP:AD:DP4 0/1:23:13,10:7,6,4,6 1 17689954 93497189 C T 730 off_target VARTYPE=1;BGN=0.00119188;ARL=250;DEA=47;QA=37;PBP=380;PBM=351;TYPE=SNP;DBXREF=dbSNP:rs2477150,g1000:0.2204,GnomAD_AC_genome:7166,GnomAD_AN_genome:30858,GnomAD:0.2322;SGVEP=PADI4|+|NM_012387|16|c.1759-63C>T|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,13,12 1 18960722 94247655 G C 181 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=235;DER=53;DEA=19;QR=36;QA=36;PBP=91;PBM=95;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4920523,g1000:0.2171,GnomAD_AC_genome:10077,GnomAD_AN_genome:30872,GnomAD:0.3264;SGVEP=PAX7|+|NM_001135254|2|c.86-75G>C|.|intronic GT:DP:AD:DP4 0/1:18:10,8:6,4,4,4 1 19018131 94282615 A C 300 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=240;DEA=74;QA=38;PBP=180;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs2076021,g1000:0.8904,GnomAD_AC_genome:28829,GnomAD_AN_genome:30956,GnomAD:0.9313;SGVEP=PAX7|+|NM_001135254|5|c.587-117A>C|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,6,4 1 19200908 94360279 G C 449 off_target VARTYPE=1;BGN=0.00119188;ARL=239;DER=39;DEA=47;QR=34;QA=37;PBP=240;PBM=216;TYPE=SNP;DBXREF=dbSNP:rs28529092,g1000:0.5485,esp5400:0.4378,ExAC:0.4940,GnomAD_AC_exome:120756,GnomAD_AN_exome:241618,GnomAD_AC_genome:13800,GnomAD_AN_genome:30860,GnomAD:0.4938;SGVEP=ALDH4A1|-|NM_001161504|14|c.1399+49C>G|.|intronic GT:DP:AD:DP4 0/1:38:19,19:10,9,10,9 1 19201956 94360423 A G 443 PASS VARTYPE=1;BGN=0.00119188;ARL=221;DER=85;DEA=88;QR=36;QA=37;PBP=227;PBM=223;TYPE=SNP;DBXREF=dbSNP:rs2230708,g1000:0.7372,esp5400:0.7013,ExAC:0.7300,clinvar:rs2230708,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:180317,GnomAD_AN_exome:246250,GnomAD_AC_genome:21406,GnomAD_AN_genome:30796,GnomAD:0.7281;SGVEP=ALDH4A1|-|NM_001161504|13|c.1200T>C|p.(Asp400:)|synonymous GT:DP:AD:DP4 0/1:52:32,20:15,17,10,10 1 19202770 94360502 T C 671 off_target VARTYPE=1;BGN=0.00119188;ARL=244;DEA=52;QA=37;PBP=380;PBM=292;TYPE=SNP;DBXREF=dbSNP:rs7550822,g1000:0.9195,esp5400:0.9135,ExAC:0.9610,GnomAD_AC_exome:235717,GnomAD_AN_exome:244086,GnomAD_AC_genome:28523,GnomAD_AN_genome:30914,GnomAD:0.9609;SGVEP=ALDH4A1|-|NM_001161504|12|c.1158+39A>G|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,13,10 1 19202917 94360542 T C 696 PASS VARTYPE=1;BGN=0.00119188;ARL=231;DER=90;DEA=94;QR=34;QA=37;PBP=353;PBM=351;TYPE=SNP;DBXREF=dbSNP:rs7550938,g1000:0.6609,esp5400:0.6209,ExAC:0.6860,clinvar:rs7550938,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:167688,GnomAD_AN_exome:239888,GnomAD_AC_genome:19121,GnomAD_AN_genome:30684,GnomAD:0.6904;SGVEP=ALDH4A1|-|NM_001161504|12|c.1050A>G|p.(Ser350:)|synonymous GT:DP:AD:DP4 0/1:63:33,30:16,17,15,15 1 19202926 94360547 T C 668 PASS VARTYPE=1;BGN=0.00119188;ARL=233;DER=86;DEA=87;QR=36;QA=37;PBP=327;PBM=348;TYPE=SNP;DBXREF=dbSNP:rs2230706,g1000:0.6601,esp5400:0.6187,ExAC:0.6840,clinvar:rs2230706,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:164368,GnomAD_AN_exome:235318,GnomAD_AC_genome:19103,GnomAD_AN_genome:30698,GnomAD:0.6897;SGVEP=ALDH4A1|-|NM_001161504|12|c.1041A>G|p.(Ala347:)|synonymous GT:DP:AD:DP4 0/1:63:34,29:16,18,14,15 1 19204154 94360748 G A 415 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=179;DEA=37;QA=35;PBP=221;PBM=194;TYPE=SNP;DBXREF=dbSNP:rs6426813,g1000:0.8109,esp5400:0.7259,ExAC:0.7450,GnomAD_AC_exome:162764,GnomAD_AN_exome:211494,GnomAD_AC_genome:21798,GnomAD_AN_genome:30824,GnomAD:0.7617;SGVEP=ALDH4A1|-|NM_001161504|10|c.761-48C>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 1 19204173 94360751 A G 295 low_coverage;off_target VARTYPE=1;BGN=0.00205729;ARL=192;DEA=27;QA=34;PBP=134;PBM=161;TYPE=SNP;DBXREF=dbSNP:rs6426814,g1000:0.8289,GnomAD_AC_genome:25462,GnomAD_AN_genome:30868,GnomAD:0.8249;SGVEP=ALDH4A1|-|NM_001161504|10|c.761-67T>C|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 1 19208145 94402350 G GGGTTGCCT 360 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=260;DEA=69;QA=282;PBP=210;PBM=150;TYPE=INDEL;DBXREF=dbSNP:rs112548638,g1000:0.9830,GnomAD_AC_exome:242445,GnomAD_AN_exome:243476,GnomAD_AC_genome:30316,GnomAD_AN_genome:30854,GnomAD:0.9943;SGVEP=ALDH4A1|-|NM_001161504|8|c.686+48_686+49insAGGCAACC|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,7,5 1 19209543 94402667 A G 555 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=255;DEA=59;QA=37;PBP=321;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs6426611,g1000:0.9681,GnomAD_AC_genome:30025,GnomAD_AN_genome:30956,GnomAD:0.9699;SGVEP=ALDH4A1|-|NM_001161504|7|c.498+75T>C|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,11,8 1 19215834 94403823 T C 934 off_target VARTYPE=1;BGN=0.00119188;ARL=217;DEA=71;QA=37;PBP=526;PBM=409;TYPE=SNP;DBXREF=dbSNP:rs941495,g1000:0.9844,esp5400:0.9730,ExAC:0.9510,GnomAD_AC_exome:144364,GnomAD_AN_exome:149234,GnomAD_AC_genome:29925,GnomAD_AN_genome:30940,GnomAD:0.9673;SGVEP=ALDH4A1|-|NM_001161504|3|c.69+22A>G|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,18,14 1 19638309 94713863 A G 2038 off_target VARTYPE=1;BGN=0.00119188;ARL=223;DEA=58;QA=37;PBP=1137;PBM=905;TYPE=SNP;DBXREF=dbSNP:rs2227295,g1000:0.7101,esp5400:0.7675,ExAC:0.7190,GnomAD_AC_exome:171061,GnomAD_AN_exome:238422,GnomAD_AC_genome:23070,GnomAD_AN_genome:30810,GnomAD:0.7211;SGVEP=AKR7A2|-|NM_001320979|1|c.298+12T>C|.|intronic GT:DP:AD:DP4 1/1:70:0,70:0,0,39,31 1 20305065 95076889 C T 2153 off_target VARTYPE=1;BGN=0.00142973;ARL=235;DEA=68;QA=36;PBP=1079;PBM=1079;TYPE=SNP;DBXREF=dbSNP:rs10732279,g1000:0.8343,esp5400:0.7812,ExAC:0.7790,GnomAD_AC_exome:192515,GnomAD_AN_exome:244726,GnomAD_AC_genome:23447,GnomAD_AN_genome:30900,GnomAD:0.7835;SGVEP=PLA2G2A|-|NM_000300|4|c.41-48G>A|.|intronic GT:DP:AD:DP4 1/1:76:0,76:0,0,38,38 1 20940258 95488737 T A 653 off_target VARTYPE=1;BGN=0.00142973;ARL=230;DEA=46;QA=36;PBP=341;PBM=313;TYPE=SNP;DBXREF=dbSNP:rs488991,g1000:0.9748,GnomAD_AC_genome:30285,GnomAD_AN_genome:30976,GnomAD:0.9777;SGVEP=CDA|+|NM_001785|3|c.267-77T>A|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,12,11 1 20960230 95495712 C T 10000 PASS VARTYPE=1;BGN=0.00142973;ARL=203;DER=1;DEA=100;QR=31;QA=36;PBP=1571;PBM=1730;TYPE=SNP;DBXREF=dbSNP:rs45530340,g1000:0.1286,esp5400:0.1207,ExAC:0.1080,clinvar:rs45530340,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:22600,GnomAD_AN_exome:128944,GnomAD_AC_genome:4744,GnomAD_AN_genome:30606,GnomAD:0.1714;SGVEP=PINK1|+|NM_032409|1|c.189C>T|p.(Leu63:)|synonymous GT:DP:AD:DP4 1/1:118:1,117:1,0,56,61 1 20964328 95497105 A G 963 off_target VARTYPE=1;BGN=0.00119188;ARL=226;DEA=49;QA=37;PBP=496;PBM=467;TYPE=SNP;DBXREF=dbSNP:rs2298298,g1000:0.8219,esp5400:0.8427,ExAC:0.8620,clinvar:rs2298298,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:211776,GnomAD_AN_exome:245572,GnomAD_AC_genome:26140,GnomAD_AN_genome:30938,GnomAD:0.8604;SGVEP=PINK1|+|NM_032409|2|c.388-7A>G|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,17,16 1 20972048 95501626 G A 2279 PASS VARTYPE=1;BGN=0.00119188;ARL=203;DER=28;DEA=41;QR=11;QA=37;PBP=1121;PBM=1167;TYPE=SNP;DBXREF=dbSNP:rs3131713,g1000:0.8207,esp5400:0.8423,ExAC:0.8620,clinvar:rs3131713,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:211919,GnomAD_AN_exome:245692,GnomAD_AC_genome:25932,GnomAD_AN_genome:30654,GnomAD:0.8607;SGVEP=PINK1|+|NM_032409|5|c.960-5G>A|.|intronic GT:DP:AD:DP4 1/1:80:0,79:0,0,39,40 1 20972304 95501937 GGTTTTGTGTTCTAA G 581 off_target VARTYPE=1;BGN=0.000993604;ARL=267;DER=11;DEA=73;QR=28;QA=507;PBP=275;PBM=311;NVF=0.96;TYPE=INDEL;DBXREF=dbSNP:rs67251778,g1000:0.1152,GnomAD_AC_genome:4515,GnomAD_AN_genome:30870,GnomAD:0.1463;SGVEP=PINK1|+|NM_032409|5|c.1123+91_1123+104del|.|intronic GT:DP:AD:DP4 1/1:26:5,21:3,2,10,11 1 20972340 95501956 G A 568 off_target VARTYPE=1;BGN=0.00142973;ARL=272;DEA=51;QA=36;PBP=284;PBM=284;NVF=0.95;TYPE=SNP;DBXREF=dbSNP:rs3131714,g1000:0.4714,GnomAD_AC_genome:16185,GnomAD_AN_genome:30788,GnomAD:0.5257;SGVEP=PINK1|+|NM_032409|5|c.1123+124G>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 1 20972373 95501961 CGGGG CGGG 149 low_coverage;off_target VARTYPE=1;BGN=0.0214649;ARL=276;DER=12;DEA=51;QR=36;QA=35;HL=4;PBP=55;PBM=100;SP=3;NVF=0.93;TYPE=INDEL;DBXREF=dbSNP:rs141853877,g1000:0.1148,GnomAD_AC_genome:4497,GnomAD_AN_genome:30846,GnomAD:0.1458;SGVEP=PINK1|+|NM_032409|5|c.1123+161del|.|intronic GT:DP:AD:DP4 1/1:12:2,10:2,0,4,6 1 20977221 95504478 A T 1690 off_target VARTYPE=1;BGN=0.00119188;ARL=249;DEA=60;QA=37;PBP=875;PBM=817;TYPE=SNP;DBXREF=dbSNP:rs686658,g1000:0.8345,esp5400:0.8524,ExAC:0.8610,clinvar:rs686658,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:203229,GnomAD_AN_exome:235704,GnomAD_AC_genome:26380,GnomAD_AN_genome:30940,GnomAD:0.8611;SGVEP=PINK1|+|NM_032409|8|c.*37A>T|.|3'UTR GT:DP:AD:DP4 1/1:58:0,58:0,0,30,28 1 20978832 95505325 T C 1196 off_target VARTYPE=1;BGN=0.00119188;ARL=244;DEA=63;QA=37;PBP=642;PBM=555;TYPE=SNP;DBXREF=dbSNP:rs6893,g1000:0.8249,esp5400:0.8430,ExAC:0.8490,clinvar:rs6893,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:141769,GnomAD_AN_exome:164366,GnomAD_AC_genome:26121,GnomAD_AN_genome:30944,GnomAD:0.8596;SGVEP=DDOST|-|NM_005216|11|c.*40A>G|.|3'UTR GT:DP:AD:DP4 1/1:41:0,41:0,0,22,19 1 20979307 95505844 GTTT GTTTT 1925 off_target VARTYPE=1;BGN=0.017189;ARL=239;DER=109;DEA=87;QR=29;QA=37;HL=3;PBP=943;PBM=988;TYPE=INDEL;DBXREF=dbSNP:rs11428148,g1000:0.5020,ExAC:0.5560,GnomAD_AC_exome:137981,GnomAD_AN_exome:246058,GnomAD_AC_genome:16956,GnomAD_AN_genome:30848,GnomAD:0.5595;SGVEP=DDOST|-|NM_005216|9|c.1114+36dupA|.|intronic GT:DP:AD:DP4 1/1:117:4,113:3,1,56,57 1 20987873 95518541 G C 2385 PASS VARTYPE=1;BGN=0.00119188;ARL=208;DEA=63;QA=37;PBP=1167;PBM=1225;TYPE=SNP;DBXREF=dbSNP:rs537816,g1000:0.9730,esp5400:0.9741,ExAC:0.9920,PhyloP:1.5050,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:3.4000,GnomAD_AC_exome:236192,GnomAD_AN_exome:237598,GnomAD_AC_genome:30239,GnomAD_AN_genome:30944,GnomAD:0.9921;SGVEP=DDOST|-|NM_005216|1|c.22C>G|p.(Arg8Gly)|missense GT:DP:AD:DP4 1/1:82:0,82:0,0,40,42 1 20991273 95520185 G A 1690 off_target VARTYPE=1;BGN=0.00119188;ARL=227;DEA=72;QA=37;PBP=846;PBM=846;TYPE=SNP;DBXREF=dbSNP:rs56070322,g1000:0.1262,esp5400:0.1478,ExAC:0.1680,GnomAD_AC_exome:41715,GnomAD_AN_exome:242626,GnomAD_AC_genome:4663,GnomAD_AN_genome:30822,GnomAD:0.1696;SGVEP=KIF17|-|NM_001122819|15|c.2909-18C>T|.|intronic GT:DP:AD:DP4 1/1:58:0,58:0,0,29,29 1 20992819 95520954 G C 2914 PASS VARTYPE=1;BGN=0.00142973;ARL=230;DEA=80;QA=36;PBP=1447;PBM=1475;TYPE=SNP;DBXREF=dbSNP:rs631357,g1000:0.7045,esp5400:0.7884,ExAC:0.7520,PhyloP:0.1680,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:3.6600,GnomAD_AC_exome:185114,GnomAD_AN_exome:246242,GnomAD_AC_genome:23867,GnomAD_AN_genome:30884,GnomAD:0.7541;SGVEP=KIF17|-|NM_001122819|14|c.2796C>G|p.(Asp932Glu)|missense GT:DP:AD:DP4 1/1:103:0,103:0,0,51,52 1 20992933 95521033 G C 625 off_target VARTYPE=1;BGN=0.00142973;ARL=276;DEA=51;QA=36;PBP=256;PBM=370;TYPE=SNP;DBXREF=dbSNP:rs573268,g1000:0.9730,GnomAD_AC_genome:30198,GnomAD_AN_genome:30908,GnomAD:0.9770;SGVEP=KIF17|-|NM_001122819|14|c.2791-109C>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,9,13 1 20998849 95523790 C T 409 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=277;DEA=27;QA=37;PBP=146;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs72650862,g1000:0.0749,GnomAD_AC_genome:3264,GnomAD_AN_genome:30892,GnomAD:0.1057;SGVEP=KIF17|-|NM_001122819|12|c.2464-160G>A|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,5,9 1 21024901 95538189 C T 602 PASS VARTYPE=1;BGN=0.00119188;ARL=217;DER=96;DEA=90;QR=36;QA=37;PBP=342;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs522496,g1000:0.5968,esp5400:0.5872,ExAC:0.6200,PhyloP:0.0790,SIFT:0.3630,PolyPhen2:0.0080,PolyPhen2_HumDiv:0.0060,LRT:0.5430,MutationTaster:0.0000,GERP:2.8700,GnomAD_AC_exome:154156,GnomAD_AN_exome:245536,GnomAD_AC_genome:18540,GnomAD_AN_genome:30904,GnomAD:0.6247;SGVEP=KIF17|-|NM_001122819|6|c.1204G>A|p.(Val402Met)|missense GT:DP:AD:DP4 0/1:96:67,29:33,34,16,13 1 21030902 95541268 G T 737 off_target VARTYPE=1;BGN=0.00119188;ARL=236;DER=57;DEA=69;QR=34;QA=37;PBP=409;PBM=336;TYPE=SNP;DBXREF=dbSNP:rs900039,g1000:0.2438,esp5400:0.3611,ExAC:0.3440,GnomAD_AC_exome:76059,GnomAD_AN_exome:212062,GnomAD_AC_genome:10738,GnomAD_AN_genome:30792,GnomAD:0.3574;SGVEP=KIF17|-|NM_001122819|5|c.1123+38C>A|.|intronic GT:DP:AD:DP4 0/1:59:28,31:15,13,17,14 1 21040079 95547382 C A 355 off_target VARTYPE=1;BGN=0.00119188;ARL=225;DER=51;DEA=72;QR=36;QA=37;PBP=181;PBM=181;TYPE=SNP;DBXREF=dbSNP:rs10799661,g1000:0.7518,esp5400:0.7154,ExAC:0.7070,GnomAD_AC_exome:158738,GnomAD_AN_exome:220656,GnomAD_AC_genome:22452,GnomAD_AN_genome:30810,GnomAD:0.7205;SGVEP=KIF17|-|NM_001122819|3|c.379-31G>T|.|intronic GT:DP:AD:DP4 0/1:42:26,16:13,13,8,8 1 21043913 95549329 T C 590 off_target VARTYPE=1;BGN=0.00171504;ARL=239;DER=40;DEA=56;QR=35;QA=35;PBP=333;PBM=265;TYPE=SNP;DBXREF=dbSNP:rs604659,g1000:0.6707,GnomAD_AC_genome:19884,GnomAD_AN_genome:30726,GnomAD:0.6471;SGVEP=KIF17|-|NM_001122819|1|c.231+56A>G|.|intronic GT:DP:AD:DP4 0/1:55:28,27:15,13,15,12 1 21043926 95549350 T C 688 off_target VARTYPE=1;BGN=0.00119188;ARL=234;DER=45;DEA=64;QR=37;QA=37;PBP=400;PBM=297;TYPE=SNP;DBXREF=dbSNP:rs604645,g1000:0.7694,esp5400:0.7305,ExAC:0.7120,GnomAD_AC_exome:163611,GnomAD_AN_exome:227238,GnomAD_AC_genome:23014,GnomAD_AN_genome:30724,GnomAD:0.7235;SGVEP=KIF17|-|NM_001122819|1|c.231+43A>G|.|intronic GT:DP:AD:DP4 0/1:66:36,30:18,18,17,13 1 21044161 95549743 A G 1435 PASS VARTYPE=1;BGN=0.00142973;ARL=208;DER=62;DEA=69;QR=35;QA=36;PBP=726;PBM=720;TYPE=SNP;DBXREF=dbSNP:rs601329,g1000:0.7121,esp5400:0.6648,ExAC:0.6980,GnomAD_AC_exome:158983,GnomAD_AN_exome:225026,GnomAD_AC_genome:21386,GnomAD_AN_genome:30540,GnomAD:0.7058;SGVEP=KIF17|-|NM_001122819|1|c.39T>C|p.(Arg13:)|synonymous GT:DP:AD:DP4 0/1:130:66,64:32,34,32,32 1 21044219 95549876 A C 790 off_target VARTYPE=1;BGN=0.00142973;ARL=227;DER=55;DEA=37;QR=37;QA=36;PBP=406;PBM=393;TYPE=SNP;DBXREF=dbSNP:rs601392,g1000:0.9247,esp5400:0.8814,ExAC:0.8220,GnomAD_AC_exome:125310,GnomAD_AN_exome:146714,GnomAD_AC_genome:26755,GnomAD_AN_genome:30370,GnomAD:0.8587;SGVEP=KIF17|-|NM_001122819|1|c.-20T>G|.|5'UTR GT:DP:AD:DP4 0/1:62:28,34:12,16,17,17 1 21554319 95845880 A G 689 off_target VARTYPE=1;BGN=0.000993604;ARL=246;DEA=39;QA=38;PBP=390;PBM=300;TYPE=SNP;DBXREF=dbSNP:rs6426676,g1000:0.9874,GnomAD_AC_genome:30433,GnomAD_AN_genome:30948,GnomAD:0.9834;SGVEP=ECE1|-|NM_001113347|13|c.1745+105T>C|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,13,10 1 21671943 95895006 T G 1419 off_target VARTYPE=1;BGN=0.00142973;ARL=211;DEA=47;QA=36;PBP=682;PBM=739;TYPE=SNP;DBXREF=dbSNP:rs2072654,g1000:0.6110,esp5400:0.5851,GnomAD_AC_genome:17778,GnomAD_AN_genome:29908,GnomAD:0.5944;SGVEP=ECE1|-|NM_001113348|1|c.-72A>C|.|5'UTR GT:DP:AD:DP4 1/1:50:0,50:0,0,24,26 1 21887290 96037657 C A 767 off_target VARTYPE=1;BGN=0.00142973;ARL=249;DEA=50;QA=36;PBP=370;PBM=398;TYPE=SNP;DBXREF=dbSNP:rs1767430,g1000:0.2620,esp5400:0.3427,ExAC:0.3340,GnomAD_AC_exome:80605,GnomAD_AN_exome:239430,GnomAD_AC_genome:10299,GnomAD_AN_genome:30766,GnomAD:0.3364;SGVEP=ALPL|+|NM_000478|3|c.181+52C>A|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,13,14 1 21889506 96038875 C T 426 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=252;DEA=12;QA=36;PBP=256;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs1256336,g1000:0.1827,GnomAD_AC_genome:7316,GnomAD_AN_genome:30814,GnomAD:0.2374;SGVEP=ALPL|+|NM_000478|5|c.298-97C>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,9,6 1 21889635 96767 T C 2559 PASS VARTYPE=1;BGN=0.00119188;ARL=227;DEA=78;QA=37;PBP=1399;PBM=1167;TYPE=SNP;DBXREF=dbSNP:rs1780316,g1000:0.9295,esp5400:0.9212,ExAC:0.9450,clinvar:rs1780316,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:232894,GnomAD_AN_exome:245862,GnomAD_AC_genome:28651,GnomAD_AN_genome:30922,GnomAD:0.9449;SGVEP=ALPL|+|NM_000478|5|c.330T>C|p.(Ser110:)|synonymous GT:DP:AD:DP4 1/1:88:0,88:0,0,48,40 1 21889784 96039396 CGGGGG CGGGG 1459 off_target VARTYPE=1;BGN=0.0262873;ARL=225;DER=34;DEA=73;QR=29;QA=37;HL=5;PBP=731;PBM=735;TYPE=INDEL;DBXREF=dbSNP:rs886045995,g1000:0.0805,ExAC:0.1280,clinvar:rs35423948:886045995,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:30798,GnomAD_AN_exome:240734,GnomAD_AC_genome:4328,GnomAD_AN_genome:30888,GnomAD:0.1293;SGVEP=ALPL|+|NM_000478|5|c.472+12del|.|intronic GT:DP:AD:DP4 1/1:106:7,99:3,4,49,50 1 21890464 96039732 A G 635 off_target VARTYPE=1;BGN=0.00171504;ARL=245;DEA=53;QA=35;PBP=415;PBM=221;TYPE=SNP;DBXREF=dbSNP:rs1767428,g1000:0.9864,GnomAD_AC_genome:29702,GnomAD_AN_genome:30098,GnomAD:0.9868;SGVEP=ALPL|+|NM_000478|6|c.473-70A>G|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,15,8 1 21904206 96048764 C T 164 off_target VARTYPE=1;BGN=0.00142973;ARL=224;DER=42;DEA=59;QR=35;QA=36;PBP=85;PBM=84;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1697405,g1000:0.3367,clinvar:rs1697405,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:10859,GnomAD_AN_genome:30790,GnomAD:0.3527;SGVEP=ALPL|+|NM_000478|12|c.*65C>T|.|3'UTR GT:DP:AD:DP4 0/1:27:19,8:9,10,4,4 1 22149935 96225695 T C 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=209;DEA=97;QA=37;PBP=1748;PBM=1864;TYPE=SNP;DBXREF=dbSNP:rs897467,g1000:0.7804,esp5400:0.7938,ExAC:0.7970,clinvar:rs897467,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:168827,GnomAD_AN_exome:208906,GnomAD_AC_genome:24424,GnomAD_AN_genome:30810,GnomAD:0.8062;SGVEP=HSPG2|-|NM_001291860|97|c.13053A>G|p.(Ser4351:)|synonymous GT:DP:AD:DP4 1/1:124:0,124:0,0,60,64 1 22150120 96226143 C T 565 PASS VARTYPE=1;BGN=0.00142973;ARL=219;DER=84;DEA=65;QR=37;QA=36;PBP=274;PBM=299;TYPE=SNP;DBXREF=dbSNP:rs3736360,g1000:0.1761,esp5400:0.1471,ExAC:0.1840,PhyloP:0.1240,SIFT:0.3160,PolyPhen2:0.0040,PolyPhen2_HumDiv:0.0010,LRT:0.8760,MutationTaster:1.0000,GERP:2.0300,clinvar:rs3736360,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:44884,GnomAD_AN_exome:245830,GnomAD_AC_genome:4805,GnomAD_AN_genome:30856,GnomAD:0.1796;SGVEP=HSPG2|-|NM_001291860|96|c.12995G>A|p.(Ser4332Asn)|missense GT:DP:AD:DP4 0/1:106:77,29:39,38,14,15 1 22150160 96226296 G T 676 PASS VARTYPE=1;BGN=0.00119188;ARL=214;DER=104;DEA=92;QR=37;QA=37;PBP=331;PBM=354;TYPE=SNP;DBXREF=dbSNP:rs3736358,esp5400:0.1297,ExAC:0.1800,clinvar:rs3736358,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:44085,GnomAD_AN_exome:245616,GnomAD_AC_genome:4362,GnomAD_AN_genome:30814,GnomAD:0.1753;SGVEP=HSPG2|-|NM_001291860|96|c.12955C>A|p.(Arg4319:)|synonymous GT:DP:AD:DP4 0/1:114:81,33:40,41,16,17 1 22150257 96226540 C T 760 off_target VARTYPE=1;BGN=0.00171504;ARL=242;DER=42;DEA=66;QR=32;QA=35;PBP=346;PBM=420;TYPE=SNP;DBXREF=dbSNP:rs3736357,g1000:0.3752,esp5400:0.3697,ExAC:0.4520,GnomAD_AC_exome:111724,GnomAD_AN_exome:238848,GnomAD_AC_genome:12201,GnomAD_AN_genome:30792,GnomAD:0.4596;SGVEP=HSPG2|-|NM_001291860|96|c.12903-45G>A|.|intronic GT:DP:AD:DP4 0/1:42:11,31:5,6,14,17 1 22154845 96230826 A G 1361 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=98;DEA=111;QR=37;QA=37;PBP=674;PBM=698;TYPE=SNP;DBXREF=dbSNP:rs2228347,g1000:0.2572,esp5400:0.2540,ExAC:0.2970,clinvar:rs2228347,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:72074,GnomAD_AN_exome:245872,GnomAD_AC_genome:7698,GnomAD_AN_genome:30878,GnomAD:0.2882;SGVEP=HSPG2|-|NM_001291860|89|c.12315T>C|p.(Asp4105:)|synonymous GT:DP:AD:DP4 0/1:104:47,57:23,24,28,29 1 22154987 96231163 G A 287 off_target VARTYPE=1;BGN=0.00142973;ARL=270;DER=59;DEA=85;QR=38;QA=36;PBP=121;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs10917052,g1000:0.2498,GnomAD_AC_genome:7405,GnomAD_AN_genome:30816,GnomAD:0.2403;SGVEP=HSPG2|-|NM_001291860|89|c.12241-68C>T|.|intronic GT:DP:AD:DP4 0/1:21:9,12:4,5,5,7 1 22155723 96232161 T C 380 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=275;DEA=73;QA=37;PBP=175;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs7518070,g1000:0.7634,clinvar:rs7518070,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:23934,GnomAD_AN_genome:30874,GnomAD:0.7752;SGVEP=HSPG2|-|NM_001291860|88|c.11996-151A>G|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 1 22155841 96232229 T C 693 off_target VARTYPE=1;BGN=0.00119188;ARL=228;DER=61;DEA=58;QR=37;QA=37;PBP=373;PBM=327;TYPE=SNP;DBXREF=dbSNP:rs12042189,g1000:0.1564,esp5400:0.1307,ExAC:0.1800,GnomAD_AC_exome:43751,GnomAD_AN_exome:243016,GnomAD_AC_genome:4383,GnomAD_AN_genome:30882,GnomAD:0.1757;SGVEP=HSPG2|-|NM_001291860|87|c.11995+35A>G|.|intronic GT:DP:AD:DP4 0/1:46:18,28:10,8,15,13 1 22155853 96232268 C T 824 off_target VARTYPE=1;BGN=0.00119188;ARL=217;DER=53;DEA=58;QR=37;QA=37;PBP=439;PBM=393;TYPE=SNP;DBXREF=dbSNP:rs12023794,g1000:0.1715,esp5400:0.1462,ExAC:0.1830,GnomAD_AC_exome:44231,GnomAD_AN_exome:243664,GnomAD_AC_genome:4839,GnomAD_AN_genome:30894,GnomAD:0.1787;SGVEP=HSPG2|-|NM_001291860|87|c.11995+23G>A|.|intronic GT:DP:AD:DP4 0/1:60:26,34:14,12,18,16 1 22157689 96234755 G A 10000 off_target VARTYPE=1;BGN=0.00142973;ARL=235;DEA=83;QA=36;PBP=1814;PBM=1814;TYPE=SNP;DBXREF=dbSNP:rs3736355,g1000:0.7592,esp5400:0.7705,ExAC:0.7920,GnomAD_AC_exome:194253,GnomAD_AN_exome:245384,GnomAD_AC_genome:23820,GnomAD_AN_genome:30808,GnomAD:0.7896;SGVEP=HSPG2|-|NM_001291860|84|c.11565+19C>T|.|intronic GT:DP:AD:DP4 1/1:128:0,128:0,0,64,64 1 22158120 96235753 G T 1379 off_target VARTYPE=1;BGN=0.00142973;ARL=225;DER=68;DEA=85;QR=37;QA=36;PBP=734;PBM=656;TYPE=SNP;DBXREF=dbSNP:rs2270701,g1000:0.1651,esp5400:0.1376,ExAC:0.1800,GnomAD_AC_exome:43533,GnomAD_AN_exome:238678,GnomAD_AC_genome:4526,GnomAD_AN_genome:30836,GnomAD:0.1783;SGVEP=HSPG2|-|NM_001291860|82|c.11355+25C>A|.|intronic GT:DP:AD:DP4 0/1:103:44,59:22,22,31,28 1 22158363 96236308 G A 502 off_target VARTYPE=1;BGN=0.00119188;ARL=256;DER=50;DEA=74;QR=36;QA=37;PBP=219;PBM=289;TYPE=SNP;DBXREF=dbSNP:rs4654771,g1000:0.2995,GnomAD_AC_genome:11286,GnomAD_AN_genome:30746,GnomAD:0.3671;SGVEP=HSPG2|-|NM_001291860|82|c.11211-74C>T|.|intronic GT:DP:AD:DP4 0/1:40:19,21:8,11,9,12 1 22159008 96236778 C A 1597 PASS VARTYPE=1;BGN=0.00142973;ARL=227;DER=88;DEA=95;QR=35;QA=36;PBP=799;PBM=811;TYPE=SNP;DBXREF=dbSNP:rs2229487,g1000:0.1577,esp5400:0.1331,ExAC:0.1730,clinvar:rs2229487,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:42169,GnomAD_AN_exome:246124,GnomAD_AC_genome:4357,GnomAD_AN_genome:30928,GnomAD:0.1679;SGVEP=HSPG2|-|NM_001291860|81|c.11190G>T|p.(Val3730:)|synonymous GT:DP:AD:DP4 0/1:173:99,74:52,47,37,37 1 22160020 96238036 C T 1419 PASS VARTYPE=1;BGN=0.00119188;ARL=209;DER=92;DEA=79;QR=36;QA=37;PBP=691;PBM=740;TYPE=SNP;DBXREF=dbSNP:rs17459097,g1000:0.0218,esp5400:0.0379,ExAC:0.0420,PhyloP:0.4380,SIFT:0.7430,PolyPhen2:0.0340,PolyPhen2_HumDiv:0.0280,LRT:0.9720,MutationTaster:0.1810,GERP:1.0200,clinvar:rs17459097,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:10720,GnomAD_AN_exome:245908,GnomAD_AC_genome:1366,GnomAD_AN_genome:30900,GnomAD:0.0437;SGVEP=HSPG2|-|NM_001291860|79|c.10921G>A|p.(Val3641Ile)|missense GT:DP:AD:DP4 0/1:133:71,62:35,36,30,32 1 22160111 96238235 C T 1062 PASS VARTYPE=1;BGN=0.00142973;ARL=227;DER=69;DEA=81;QR=37;QA=36;PBP=550;PBM=522;TYPE=SNP;DBXREF=dbSNP:rs17459139,g1000:0.1641,esp5400:0.1334,ExAC:0.1750,clinvar:rs17459139,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:42594,GnomAD_AN_exome:245520,GnomAD_AC_genome:4346,GnomAD_AN_genome:30906,GnomAD:0.1698;SGVEP=HSPG2|-|NM_001291860|79|c.10834-4G>A|.|intronic GT:DP:AD:DP4 0/1:94:47,47:23,24,24,23 1 22160148 96238304 C T 531 off_target VARTYPE=1;BGN=0.00119188;ARL=244;DER=57;DEA=57;QR=35;QA=37;PBP=244;PBM=294;TYPE=SNP;DBXREF=dbSNP:rs7547731,g1000:0.3750,esp5400:0.3697,ExAC:0.4520,GnomAD_AC_exome:112972,GnomAD_AN_exome:243488,GnomAD_AC_genome:12254,GnomAD_AN_genome:30876,GnomAD:0.4564;SGVEP=HSPG2|-|NM_001291860|79|c.10834-41G>A|.|intronic GT:DP:AD:DP4 0/1:62:38,24:19,19,11,13 1 22161275 96239183 G A 2269 PASS VARTYPE=1;BGN=0.00119188;ARL=209;DER=91;DEA=102;QR=37;QA=37;PBP=1145;PBM=1143;TYPE=SNP;DBXREF=dbSNP:rs2229492,g1000:0.1595,esp5400:0.1336,ExAC:0.1740,clinvar:rs2229492,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:42618,GnomAD_AN_exome:246082,GnomAD_AC_genome:4351,GnomAD_AN_genome:30934,GnomAD:0.1696;SGVEP=HSPG2|-|NM_001291860|77|c.10620C>T|p.(Val3540:)|synonymous GT:DP:AD:DP4 0/1:239:137,102:68,69,51,51 1 22165901 96243045 A G 851 PASS VARTYPE=1;BGN=0.00119188;ARL=210;DER=68;DEA=66;QR=37;QA=37;PBP=427;PBM=433;TYPE=SNP;DBXREF=dbSNP:rs2291826,g1000:0.3460,esp5400:0.3561,ExAC:0.2870,clinvar:rs2291826,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:67930,GnomAD_AN_exome:245644,GnomAD_AC_genome:10233,GnomAD_AN_genome:30838,GnomAD:0.2827;SGVEP=HSPG2|-|NM_001291860|73|c.9855T>C|p.(Ala3285:)|synonymous GT:DP:AD:DP4 0/1:91:53,38:28,25,19,19 1 22165987 96243226 G A 1068 PASS VARTYPE=1;BGN=0.00119188;ARL=211;DER=99;DEA=99;QR=37;QA=37;PBP=501;PBM=578;TYPE=SNP;DBXREF=dbSNP:rs2291827,g1000:0.1522,esp5400:0.1251,ExAC:0.1720,PhyloP:2.5970,SIFT:0.3490,PolyPhen2:0.1940,PolyPhen2_HumDiv:0.3870,LRT:0.9990,MutationTaster:1.0000,GERP:5.5000,clinvar:rs2291827,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:41941,GnomAD_AN_exome:245620,GnomAD_AC_genome:4161,GnomAD_AN_genome:30868,GnomAD:0.1667;SGVEP=HSPG2|-|NM_001291860|73|c.9769C>T|p.(His3257Tyr)|missense GT:DP:AD:DP4 0/1:105:58,47:29,29,22,25 1 22167988 96244997 G T 592 off_target VARTYPE=1;BGN=0.000993604;ARL=240;DER=77;DEA=60;QR=35;QA=38;PBP=341;PBM=259;TYPE=SNP;DBXREF=dbSNP:rs2270697,g1000:0.1528,esp5400:0.1256,ExAC:0.1730,GnomAD_AC_exome:42211,GnomAD_AN_exome:244918,GnomAD_AC_genome:4193,GnomAD_AN_genome:30910,GnomAD:0.1682;SGVEP=HSPG2|-|NM_001291860|70|c.9331+44C>A|.|intronic GT:DP:AD:DP4 0/1:56:31,25:15,16,14,11 1 22168216 96245381 C T 1617 off_target VARTYPE=1;BGN=0.00142973;ARL=234;DEA=36;QA=36;PBP=739;PBM=880;TYPE=SNP;DBXREF=dbSNP:rs7556412,g1000:0.6238,esp5400:0.6052,ExAC:0.6480,GnomAD_AC_exome:157986,GnomAD_AN_exome:242278,GnomAD_AC_genome:19401,GnomAD_AN_genome:30854,GnomAD:0.6495;SGVEP=HSPG2|-|NM_001291860|70|c.9197-50G>A|.|intronic GT:DP:AD:DP4 1/1:57:0,57:0,0,26,31 1 22170828 96247728 C G 598 off_target VARTYPE=1;BGN=0.00119188;ARL=248;DER=65;DEA=69;QR=37;QA=37;PBP=257;PBM=348;TYPE=SNP;DBXREF=dbSNP:rs2270698,g1000:0.1579,esp5400:0.1261,ExAC:0.1720,GnomAD_AC_exome:40767,GnomAD_AN_exome:236072,GnomAD_AC_genome:4282,GnomAD_AN_genome:30900,GnomAD:0.1687;SGVEP=HSPG2|-|NM_001291860|65|c.8468-36G>C|.|intronic GT:DP:AD:DP4 0/1:57:31,26:13,18,11,15 1 22173762 96264590 G A 369 off_target VARTYPE=1;BGN=0.00142973;ARL=262;DER=90;DEA=32;QR=36;QA=36;PBP=223;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs12023884,g1000:0.1530,GnomAD_AC_genome:4182,GnomAD_AN_genome:30928,GnomAD:0.1352;SGVEP=HSPG2|-|NM_001291860|62|c.8167+85C>T|.|intronic GT:DP:AD:DP4 0/1:23:8,15:5,3,9,6 1 22174426 96265060 T G 992 off_target VARTYPE=1;BGN=0.00119188;ARL=238;DER=78;DEA=105;QR=35;QA=37;PBP=522;PBM=479;TYPE=SNP;DBXREF=dbSNP:rs2290501,g1000:0.3748,esp5400:0.3895,ExAC:0.3370,PhyloP:0.3380,SIFT:1.0000,MutationTaster:0.0000,GERP:2.4500,GnomAD_AC_exome:80064,GnomAD_AN_exome:245646,GnomAD_AC_genome:11320,GnomAD_AN_genome:30860,GnomAD:0.3305;SGVEP=HSPG2|-|NM_001291860|60|c.7876+25A>C|.|intronic GT:DP:AD:DP4 0/1:81:39,42:21,18,22,20 1 22174600 96265183 A G 2212 off_target VARTYPE=1;BGN=0.00119188;ARL=233;DEA=77;QA=37;PBP=1050;PBM=1167;TYPE=SNP;DBXREF=dbSNP:rs3767138,g1000:0.7620,esp5400:0.7843,ExAC:0.7750,clinvar:rs3767138,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:147271,GnomAD_AN_exome:185184,GnomAD_AC_genome:24145,GnomAD_AN_genome:30878,GnomAD:0.7934;SGVEP=HSPG2|-|NM_001291860|60|c.7741-14T>C|.|intronic GT:DP:AD:DP4 1/1:76:0,76:0,0,36,40 1 22176500 96265769 G T 376 off_target VARTYPE=1;BGN=0.00119188;ARL=218;DER=45;DEA=60;QR=36;QA=37;PBP=202;PBM=181;TYPE=SNP;DBXREF=dbSNP:rs6658388,g1000:0.1550,esp5400:0.1243,ExAC:0.1730,GnomAD_AC_exome:42059,GnomAD_AN_exome:244506,GnomAD_AC_genome:4203,GnomAD_AN_genome:30932,GnomAD:0.1680;SGVEP=HSPG2|-|NM_001291860|57|c.7449+34C>A|.|intronic GT:DP:AD:DP4 0/1:45:28,17:15,13,9,8 1 22176831 96266011 C T 887 off_target VARTYPE=1;BGN=0.00142973;ARL=259;DER=75;DEA=104;QR=35;QA=36;PBP=445;PBM=450;TYPE=SNP;DBXREF=dbSNP:rs2290500,g1000:0.1949,esp5400:0.1617,ExAC:0.1730,GnomAD_AC_exome:39811,GnomAD_AN_exome:219872,GnomAD_AC_genome:5420,GnomAD_AN_genome:30862,GnomAD:0.1804;SGVEP=HSPG2|-|NM_001291860|56|c.7297+25G>A|.|intronic GT:DP:AD:DP4 0/1:53:17,36:9,8,18,18 1 22177119 96266142 A G 178 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=294;DER=48;DEA=65;QR=37;QA=36;PBP=79;PBM=102;SP=0;TYPE=SNP;DBXREF=dbSNP:rs61777200,g1000:0.3061,GnomAD_AC_genome:11459,GnomAD_AN_genome:30880,GnomAD:0.3711;SGVEP=HSPG2|-|NM_001291860|56|c.7162-128T>C|.|intronic GT:DP:AD:DP4 0/1:10:3,7:1,2,3,4 1 22179673 96267141 T C 115 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=278;DER=81;DEA=45;QR=36;QA=38;PBP=24;PBM=95;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12049614,g1000:0.3778,GnomAD_AC_genome:12516,GnomAD_AN_genome:30820,GnomAD:0.4061;SGVEP=HSPG2|-|NM_001291860|51|c.6443-110A>G|.|intronic GT:DP:AD:DP4 0/1:15:10,5:3,7,1,4 1 22181723 96267884 G C 248 off_target VARTYPE=1;BGN=0.00119188;ARL=253;DER=43;DEA=25;QR=36;QA=37;PBP=134;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs77060492,g1000:0.1903,GnomAD_AC_genome:5444,GnomAD_AN_genome:30750,GnomAD:0.1770;SGVEP=HSPG2|-|NM_001291860|47|c.6000+74C>G|.|intronic GT:DP:AD:DP4 0/1:28:17,11:11,6,6,5 1 22183471 96268588 A C 1617 off_target VARTYPE=1;BGN=0.00142973;ARL=217;DER=17;DEA=47;QR=8;QA=36;PBP=852;PBM=767;TYPE=SNP;DBXREF=dbSNP:rs12024579,g1000:0.7490,esp5400:0.7652,ExAC:0.7910,GnomAD_AC_exome:194181,GnomAD_AN_exome:246052,GnomAD_AC_genome:23729,GnomAD_AN_genome:30852,GnomAD:0.7870;SGVEP=HSPG2|-|NM_001291860|44|c.5578+37T>G|.|intronic GT:DP:AD:DP4 1/1:57:0,57:0,0,30,27 1 22183739 96268782 A G 1464 off_target VARTYPE=1;BGN=0.00119188;ARL=221;DER=88;DEA=104;QR=35;QA=37;PBP=699;PBM=777;TYPE=SNP;DBXREF=dbSNP:rs2305562,g1000:0.4469,esp5400:0.5042,ExAC:0.5030,GnomAD_AC_exome:124086,GnomAD_AN_exome:246066,GnomAD_AC_genome:15689,GnomAD_AN_genome:30778,GnomAD:0.5049;SGVEP=HSPG2|-|NM_001291860|43|c.5397+39T>C|.|intronic GT:DP:AD:DP4 0/1:127:64,63:32,32,30,33 1 22186234 96269370 A G 2183 off_target VARTYPE=1;BGN=0.00119188;ARL=255;DEA=114;QA=37;PBP=1021;PBM=1167;TYPE=SNP;DBXREF=dbSNP:rs10917056,g1000:0.9293,GnomAD_AC_genome:28992,GnomAD_AN_genome:30904,GnomAD:0.9381;SGVEP=HSPG2|-|NM_001291860|42|c.5186-65T>C|.|intronic GT:DP:AD:DP4 1/1:75:0,75:0,0,35,40 1 22191361 96270719 G C 1651 PASS VARTYPE=1;BGN=0.00119188;ARL=225;DER=80;DEA=73;QR=36;QA=37;PBP=896;PBM=769;TYPE=SNP;DBXREF=dbSNP:rs142736845,esp5400:0.0014,ExAC:0.0011,PhyloP:1.2460,SIFT:0.9930,PolyPhen2:0.9860,PolyPhen2_HumDiv:0.9990,LRT:0.9990,MutationTaster:1.0000,GERP:3.4200,clinvar:rs142736845,CLNSIG:Uncertain_significance,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:322,GnomAD_AN_exome:229436,GnomAD_AC_genome:34,GnomAD_AN_genome:30948,GnomAD:0.0014;SGVEP=HSPG2|-|NM_001291860|36|c.4604C>G|p.(Pro1535Arg)|missense GT:DP:AD:DP4 0/1:142:71,71:36,35,38,33 1 22191454 96270823 G A 1850 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=105;DEA=89;QR=36;QA=37;PBP=941;PBM=925;TYPE=SNP;DBXREF=dbSNP:rs897471,g1000:0.6915,esp5400:0.6943,ExAC:0.7060,PhyloP:1.1920,SIFT:0.9440,PolyPhen2:0.9970,PolyPhen2_HumDiv:1.0000,LRT:0.9990,MutationTaster:0.0010,GERP:4.3700,clinvar:rs897471,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:157107,GnomAD_AN_exome:214858,GnomAD_AC_genome:21899,GnomAD_AN_genome:30876,GnomAD:0.7285;SGVEP=HSPG2|-|NM_001291860|36|c.4511C>T|p.(Ala1504Val)|missense GT:DP:AD:DP4 0/1:195:112,83:58,54,42,41 1 22199081 96271420 A T 1927 off_target VARTYPE=1;BGN=0.00142973;ARL=234;DEA=66;QA=36;PBP=1050;PBM=880;TYPE=SNP;DBXREF=dbSNP:rs2501266,g1000:0.9798,esp5400:0.9810,ExAC:0.9930,GnomAD_AC_exome:169872,GnomAD_AN_exome:170556,GnomAD_AC_genome:30397,GnomAD_AN_genome:30914,GnomAD:0.9940;SGVEP=HSPG2|-|NM_001291860|32|c.4032+32T>A|.|intronic GT:DP:AD:DP4 1/1:68:0,68:0,0,37,31 1 22199245 96271452 C T 2761 PASS VARTYPE=1;BGN=0.00119188;ARL=228;DEA=80;QA=37;PBP=1370;PBM=1399;TYPE=SNP;DBXREF=dbSNP:rs2229482,g1000:0.4249,esp5400:0.5234,ExAC:0.5430,clinvar:rs2229482,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:129065,GnomAD_AN_exome:231388,GnomAD_AC_genome:15746,GnomAD_AN_genome:30750,GnomAD:0.5524;SGVEP=HSPG2|-|NM_001291860|32|c.3900G>A|p.(Val1300:)|synonymous GT:DP:AD:DP4 1/1:95:0,95:0,0,47,48 1 22199821 96271552 G A 1305 off_target VARTYPE=1;BGN=0.00142973;ARL=223;DEA=54;QA=36;PBP=625;PBM=682;TYPE=SNP;DBXREF=dbSNP:rs2454290,g1000:0.7420,esp5400:0.7289,ExAC:0.8190,GnomAD_AC_exome:204553,GnomAD_AN_exome:246222,GnomAD_AC_genome:23301,GnomAD_AN_genome:30890,GnomAD:0.8222;SGVEP=HSPG2|-|NM_001291860|30|c.3796+47C>T|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,22,24 1 22200835 96271658 C G 1050 off_target VARTYPE=1;BGN=0.00142973;ARL=243;DEA=60;QA=36;PBP=568;PBM=483;TYPE=SNP;DBXREF=dbSNP:rs2445135,g1000:0.9782,GnomAD_AC_genome:30412,GnomAD_AN_genome:30946,GnomAD:0.9827;SGVEP=HSPG2|-|NM_001291860|28|c.3659+64G>C|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,20,17 1 22202109 96271859 C T 2877 off_target VARTYPE=1;BGN=0.00119188;ARL=221;DEA=65;QA=37;PBP=1515;PBM=1370;TYPE=SNP;DBXREF=dbSNP:rs2501265,g1000:0.9423,esp5400:0.9385,ExAC:0.9830,clinvar:rs2501265,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:233209,GnomAD_AN_exome:236458,GnomAD_AC_genome:29429,GnomAD_AN_genome:30944,GnomAD:0.9822;SGVEP=HSPG2|-|NM_001291860|25|c.3305+13G>A|.|intronic GT:DP:AD:DP4 1/1:99:0,99:0,0,52,47 1 22203259 96272086 A G 526 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=278;DEA=59;QA=37;PBP=205;PBM=321;TYPE=SNP;DBXREF=dbSNP:rs2454295,g1000:0.4517,GnomAD_AC_genome:16753,GnomAD_AN_genome:30860,GnomAD:0.5429;SGVEP=HSPG2|-|NM_001291860|22|c.2689-114T>C|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,7,11 1 22205408 96272318 T C 1167 off_target VARTYPE=1;BGN=0.00119188;ARL=238;DEA=45;QA=37;PBP=613;PBM=555;TYPE=SNP;DBXREF=dbSNP:rs2454294,g1000:0.9736,GnomAD_AC_genome:30277,GnomAD_AN_genome:30946,GnomAD:0.9784;SGVEP=HSPG2|-|NM_001291860|18|c.2474+79A>G|.|intronic GT:DP:AD:DP4 1/1:40:0,40:0,0,21,19 1 22205466 96272339 T C 2435 off_target VARTYPE=1;BGN=0.00142973;ARL=233;DEA=64;QA=36;PBP=1220;PBM=1220;TYPE=SNP;DBXREF=dbSNP:rs2454293,g1000:0.9595,esp5400:0.9594,ExAC:0.9860,GnomAD_AC_exome:235959,GnomAD_AN_exome:238544,GnomAD_AC_genome:29892,GnomAD_AN_genome:30930,GnomAD:0.9866;SGVEP=HSPG2|-|NM_001291860|18|c.2474+21A>G|.|intronic GT:DP:AD:DP4 1/1:86:0,86:0,0,43,43 1 22206649 96272456 T C 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DEA=72;QA=37;PBP=1632;PBM=1661;TYPE=SNP;DBXREF=dbSNP:rs989994,g1000:0.9299,esp5400:0.9326,ExAC:0.9810,PhyloP:2.0440,SIFT:0.7540,PolyPhen2:0.0160,PolyPhen2_HumDiv:0.0030,LRT:0.9920,MutationTaster:0.9980,GERP:5.3800,clinvar:rs989994,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:242491,GnomAD_AN_exome:246198,GnomAD_AC_genome:29126,GnomAD_AN_genome:30972,GnomAD:0.9800;SGVEP=HSPG2|-|NM_001291860|17|c.2297A>G|p.(Asn766Ser)|missense GT:DP:AD:DP4 1/1:113:0,113:0,0,56,57 1 22206942 96272523 G A 10000 PASS VARTYPE=1;BGN=0.00142973;ARL=219;DER=93;DEA=107;QR=11;QA=36;PBP=2266;PBM=2182;TYPE=SNP;DBXREF=dbSNP:rs1874793,g1000:0.9299,esp5400:0.9326,ExAC:0.9810,clinvar:rs1874793,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:242049,GnomAD_AN_exome:245742,GnomAD_AC_genome:29067,GnomAD_AN_genome:30906,GnomAD:0.9800;SGVEP=HSPG2|-|NM_001291860|16|c.2112C>T|p.(Ala704:)|synonymous GT:DP:AD:DP4 1/1:157:0,157:0,0,80,77 1 22207235 96272589 T C 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=208;DEA=103;QA=37;PBP=2414;PBM=2327;TYPE=SNP;DBXREF=dbSNP:rs1874792,g1000:0.9736,esp5400:0.9737,ExAC:0.9920,PhyloP:0.7070,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9690,MutationTaster:0.0000,GERP:3.5600,clinvar:rs1874792,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:221604,GnomAD_AN_exome:222814,GnomAD_AC_genome:30238,GnomAD_AN_genome:30902,GnomAD:0.9926;SGVEP=HSPG2|-|NM_001291860|15|c.1915A>G|p.(Met639Val)|missense GT:DP:AD:DP4 1/1:163:0,163:0,0,83,80 1 22207804 96272651 ACCCAGGGTGGCAG A 2032 off_target VARTYPE=1;BGN=0.000993604;ARL=230;DEA=76;QA=482;PBP=1078;PBM=959;NVF=0.99;TYPE=INDEL;DBXREF=dbSNP:rs139046040,g1000:0.9597,GnomAD_AC_exome:243579,GnomAD_AN_exome:245794,GnomAD_AC_genome:29800,GnomAD_AN_genome:30898,GnomAD:0.9880;SGVEP=HSPG2|-|NM_001291860|14|c.1821+15_1821+27del|.|intronic GT:DP:AD:DP4 1/1:68:0,68:0,0,36,32 1 22208030 96272713 C T 1399 off_target VARTYPE=1;BGN=0.00119188;ARL=226;DEA=46;QA=37;PBP=613;PBM=788;TYPE=SNP;DBXREF=dbSNP:rs921847,g1000:0.9259,esp5400:0.9243,ExAC:0.9690,clinvar:rs921847,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:235258,GnomAD_AN_exome:241892,GnomAD_AC_genome:28803,GnomAD_AN_genome:30930,GnomAD:0.9679;SGVEP=HSPG2|-|NM_001291860|14|c.1658-35G>A|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,21,27 1 22211222 96272946 T C 2704 off_target VARTYPE=1;BGN=0.00119188;ARL=241;DER=7;DEA=114;QR=34;QA=37;PBP=1370;PBM=1341;TYPE=SNP;DBXREF=dbSNP:rs4654994,g1000:0.8964,esp5400:0.9039,ExAC:0.9090,GnomAD_AC_exome:216718,GnomAD_AN_exome:237246,GnomAD_AC_genome:27869,GnomAD_AN_genome:30824,GnomAD:0.9124;SGVEP=HSPG2|-|NM_001291860|12|c.1507+38A>G|.|intronic GT:DP:AD:DP4 1/1:93:0,93:0,0,47,46 1 22216574 96273610 C A 2385 PASS VARTYPE=1;BGN=0.00119188;ARL=223;DEA=91;QA=37;PBP=1225;PBM=1167;TYPE=SNP;DBXREF=dbSNP:rs2254358,g1000:0.4445,esp5400:0.5493,ExAC:0.5770,PhyloP:0.1990,SIFT:0.8170,PolyPhen2:0.2260,PolyPhen2_HumDiv:0.6170,LRT:0.9790,MutationTaster:0.0020,GERP:0.3600,clinvar:rs2254358,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:142689,GnomAD_AN_exome:246206,GnomAD_AC_genome:16343,GnomAD_AN_genome:30808,GnomAD:0.5741;SGVEP=HSPG2|-|NM_001291860|6|c.474G>T|p.(Gly158:)|synonymous GT:DP:AD:DP4 1/1:82:0,82:0,0,42,40 1 22216604 96273622 C G 1871 PASS VARTYPE=1;BGN=0.00142973;ARL=231;DEA=80;QA=36;PBP=937;PBM=937;TYPE=SNP;DBXREF=dbSNP:rs2254357,g1000:0.4445,esp5400:0.5492,ExAC:0.5770,PhyloP:2.8370,SIFT:0.7570,PolyPhen2:0.5090,PolyPhen2_HumDiv:0.9460,MutationTaster:1.0000,GERP:4.5000,clinvar:rs2254357,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:142698,GnomAD_AN_exome:246196,GnomAD_AC_genome:16330,GnomAD_AN_genome:30820,GnomAD:0.5741;SGVEP=HSPG2|-|NM_001291860|6|c.444G>C|p.(Leu148:)|synonymous GT:DP:AD:DP4 1/1:66:0,66:0,0,33,33 1 22217108 96273709 G A 2604 PASS VARTYPE=1;BGN=0.00142973;ARL=221;DEA=98;QA=36;PBP=1277;PBM=1334;TYPE=SNP;DBXREF=dbSNP:rs2501260,g1000:0.9481,esp5400:0.9520,ExAC:0.9860,clinvar:rs2501260,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:243584,GnomAD_AN_exome:246272,GnomAD_AC_genome:29576,GnomAD_AN_genome:30940,GnomAD:0.9854;SGVEP=HSPG2|-|NM_001291860|4|c.324C>T|p.(Phe108:)|synonymous GT:DP:AD:DP4 1/1:92:0,92:0,0,45,47 1 22447645 96427263 C CTG 635 off_target VARTYPE=1;BGN=0.000993604;ARL=239;DER=53;DEA=46;QR=32;QA=74;PBP=393;PBM=250;TYPE=INDEL;DBXREF=dbSNP:rs397776728,g1000:0.8556,GnomAD_AC_genome:24244,GnomAD_AN_genome:30710,GnomAD:0.7894;SGVEP=WNT4|-|NM_030761|4|c.588+57_588+58dup|.|intronic GT:DP:AD:DP4 0/1:42:16,25:8,8,15,10 1 22827931 96651940 C T 287 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=261;DER=128;DEA=50;QR=38;QA=36;PBP=156;PBM=134;TYPE=SNP;DBXREF=dbSNP:rs4655071,g1000:0.4010,GnomAD_AC_genome:11318,GnomAD_AN_genome:30886,GnomAD:0.3664;SGVEP=ZBTB40|+|NM_001083621|5|c.832-54C>T|.|intronic GT:DP:AD:DP4 1/1:14:3,11:2,1,6,5 1 22832743 96652282 A T 1334 off_target VARTYPE=1;BGN=0.00142973;ARL=237;DEA=78;QA=36;PBP=653;PBM=682;TYPE=SNP;DBXREF=dbSNP:rs209732,g1000:0.7991,esp5400:0.7106,ExAC:0.6930,GnomAD_AC_exome:170503,GnomAD_AN_exome:245044,GnomAD_AC_genome:21960,GnomAD_AN_genome:30916,GnomAD:0.6974;SGVEP=ZBTB40|+|NM_001083621|7|c.1360+9A>T|.|intronic GT:DP:AD:DP4 1/1:47:0,47:0,0,23,24 1 22835677 96652562 A G 1317 PASS VARTYPE=1;BGN=0.000993604;ARL=212;DEA=88;QA=38;PBP=630;PBM=689;TYPE=SNP;DBXREF=dbSNP:rs209729,g1000:0.8225,esp5400:0.7826,ExAC:0.7650,PhyloP:-0.3330,SIFT:0.6010,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.6660,MutationTaster:0.0000,GERP:0.9250,GnomAD_AC_exome:188624,GnomAD_AN_exome:246170,GnomAD_AC_genome:24071,GnomAD_AN_genome:30888,GnomAD:0.7677;SGVEP=ZBTB40|+|NM_001083621|10|c.1784A>G|p.(Tyr595Cys)|missense GT:DP:AD:DP4 1/1:44:0,44:0,0,21,23 1 22837849 96652715 C T 1048 off_target VARTYPE=1;BGN=0.00142973;ARL=236;DER=50;DEA=72;QR=35;QA=36;PBP=472;PBM=585;TYPE=SNP;DBXREF=dbSNP:rs209727,g1000:0.4836,esp5400:0.4668,ExAC:0.4140,GnomAD_AC_exome:102982,GnomAD_AN_exome:245276,GnomAD_AC_genome:14406,GnomAD_AN_genome:30846,GnomAD:0.4251;SGVEP=ZBTB40|+|NM_001083621|11|c.2002+9C>T|.|intronic GT:DP:AD:DP4 0/1:59:17,42:9,8,19,23 1 22846709 96653308 G A 2530 PASS VARTYPE=1;BGN=0.00119188;ARL=223;DEA=93;QA=37;PBP=1254;PBM=1283;TYPE=SNP;DBXREF=dbSNP:rs209720,g1000:0.9984,esp5400:0.9961,ExAC:0.9970,PhyloP:1.0230,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:1.0000,MutationTaster:0.0000,GERP:5.7900,GnomAD_AC_exome:245370,GnomAD_AN_exome:246126,GnomAD_AC_genome:30863,GnomAD_AN_genome:30950,GnomAD:0.9970;SGVEP=ZBTB40|+|NM_001083621|15|c.2989G>A|p.(Val997Met)|missense GT:DP:AD:DP4 1/1:87:0,87:0,0,43,44 1 22848972 96653515 A C 632 off_target VARTYPE=1;BGN=0.000993604;ARL=221;DER=62;DEA=56;QR=38;QA=38;PBP=293;PBM=347;TYPE=SNP;DBXREF=dbSNP:rs61769198,g1000:0.1092,esp5400:0.1726,ExAC:0.1770,GnomAD_AC_exome:44785,GnomAD_AN_exome:246172,GnomAD_AC_genome:4888,GnomAD_AN_genome:30966,GnomAD:0.1792;SGVEP=ZBTB40|+|NM_001083621|17|c.3298+16A>C|.|intronic GT:DP:AD:DP4 0/1:52:26,26:13,13,12,14 1 22849003 96653525 A C 464 off_target VARTYPE=1;BGN=0.00119188;ARL=225;DER=31;DEA=44;QR=35;QA=37;PBP=240;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs998978,g1000:0.3181,esp5400:0.2975,ExAC:0.3430,GnomAD_AC_exome:83369,GnomAD_AN_exome:245540,GnomAD_AC_genome:9184,GnomAD_AN_genome:30878,GnomAD:0.3348;SGVEP=ZBTB40|+|NM_001083621|17|c.3298+47A>C|.|intronic GT:DP:AD:DP4 0/1:43:23,20:10,13,10,10 1 22852715 96684559 G C 747 PASS VARTYPE=1;BGN=0.00119188;ARL=220;DER=85;DEA=62;QR=37;QA=37;PBP=390;PBM=366;TYPE=SNP;DBXREF=dbSNP:rs881646,g1000:0.3181,esp5400:0.2972,ExAC:0.3420,GnomAD_AC_exome:83492,GnomAD_AN_exome:246130,GnomAD_AC_genome:9169,GnomAD_AN_genome:30900,GnomAD:0.3345;SGVEP=ZBTB40|+|NM_001083621|19|c.3546G>C|p.(Pro1182:)|synonymous GT:DP:AD:DP4 0/1:76:43,33:22,21,17,16 1 22965438 96766887 A G 1050 PASS VARTYPE=1;BGN=0.00142973;ARL=225;DER=98;DEA=102;QR=34;QA=36;PBP=494;PBM=566;TYPE=SNP;DBXREF=dbSNP:rs172378,g1000:0.6164,esp5400:0.4829,ExAC:0.4680,PhyloP:-0.6010,SIFT:0.6290,LRT:0.5400,MutationTaster:1.0000,GERP:-2.6200,GnomAD_AC_exome:105988,GnomAD_AN_exome:218308,GnomAD_AC_genome:15640,GnomAD_AN_genome:30828,GnomAD:0.4882;SGVEP=C1QA|+|NM_001347465|3|c.276A>G|p.(Gly92:)|synonymous GT:DP:AD:DP4 0/1:98:51,47:25,26,22,25 1 22970790 96772394 A T 396 off_target VARTYPE=1;BGN=0.00142973;ARL=250;DER=36;DEA=67;QR=35;QA=36;PBP=116;PBM=287;TYPE=SNP;DBXREF=dbSNP:rs111257252,g1000:0.0775,GnomAD_AC_genome:2138,GnomAD_AN_genome:30810,GnomAD:0.0694;SGVEP=C1QC|+|NM_001114101|2|c.181+93A>T|.|intronic GT:DP:AD:DP4 0/1:32:15,17:6,9,5,12 1 22970797 96772441 GCC GC 228 off_target VARTYPE=1;BGN=0.0135344;ARL=249;DER=29;DEA=62;QR=34;QA=37;HL=2;PBP=65;PBM=170;SP=3;TYPE=INDEL;DBXREF=dbSNP:rs147010526,g1000:0.0803,GnomAD_AC_genome:2317,GnomAD_AN_genome:30824,GnomAD:0.0752;SGVEP=C1QC|+|NM_001114101|2|c.181+102del|.|intronic GT:DP:AD:DP4 0/1:33:16,17:7,9,5,12 1 22970828 96772509 G T 263 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=267;DER=16;DEA=57;QR=30;QA=35;PBP=73;PBM=194;SP=0;TYPE=SNP;DBXREF=dbSNP:rs666656,g1000:0.6763,GnomAD_AC_genome:18148,GnomAD_AN_genome:30744,GnomAD:0.5903;SGVEP=C1QC|+|NM_001114101|2|c.181+131G>T|.|intronic GT:DP:AD:DP4 0/1:17:6,11:2,4,3,8 1 22985832 96791460 A G 105 low_coverage;off_target VARTYPE=1;BGN=0.00205729;ARL=253;DER=25;DEA=26;QR=35;QA=34;PBP=65;PBM=44;SP=0;TYPE=SNP;DBXREF=dbSNP:rs776246676;SGVEP=C1QB|+|NM_000491|2|c.-17-101A>G|.|intronic GT:DP:AD:DP4 0/1:12:6,5:3,3,3,2 1 22985839 868252642 AGATGGATG A 121 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=253;DER=21;DEA=33;QR=11;QA=300;PBP=75;PBM=50;SP=0;TYPE=INDEL;DBXREF=GnomAD_AC_genome:919,GnomAD_AN_genome:26732,GnomAD:0.0344;SGVEP=C1QB|+|NM_000491|2|c.-17-53_-17-46del|.|intronic GT:DP:AD:DP4 0/1:12:1,5:1,0,3,2 1 22985839 96791468 AGATG A 150 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=253;DER=21;DEA=32;QR=11;QA=151;PBP=75;PBM=80;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs530104909,GnomAD_AC_genome:12419,GnomAD_AN_genome:26732,GnomAD:0.4646;SGVEP=C1QB|+|NM_000491|2|c.-17-49_-17-46del|.|intronic GT:DP:AD:DP4 0/1:12:1,6:1,0,3,3 1 22987666 96791735 C T 1076 PASS VARTYPE=1;BGN=0.00119188;ARL=239;DER=103;DEA=118;QR=37;QA=37;PBP=580;PBM=505;TYPE=SNP;DBXREF=dbSNP:rs149612866,g1000:0.0016,esp5400:0.0016,ExAC:0.0022,GnomAD_AC_exome:666,GnomAD_AN_exome:246196,GnomAD_AC_genome:115,GnomAD_AN_genome:30920,GnomAD:0.0028;SGVEP=C1QB|+|NM_000491|3|c.549C>T|p.(Asn183:)|synonymous GT:DP:AD:DP4 0/1:102:54,47:28,26,25,22 1 22987958 96791796 A G 512 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=259;DEA=60;QA=36;PBP=227;PBM=284;TYPE=SNP;DBXREF=dbSNP:rs10580,g1000:0.9914,GnomAD_AC_genome:30421,GnomAD_AN_genome:30926,GnomAD:0.9837;SGVEP=C1QB|+|NM_000491|3|c.*79A>G|.|3'UTR GT:DP:AD:DP4 1/1:18:0,18:0,0,8,10 1 23108089 96845518 A G 497 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=242;DEA=31;QA=35;PBP=221;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs2817904,g1000:0.5751,GnomAD_AC_genome:21937,GnomAD_AN_genome:30540,GnomAD:0.7183;SGVEP=EPHB2|+|NM_001309192|2|c.126+111A>G|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,8,10 1 23189715 96891671 G C 592 off_target VARTYPE=1;BGN=0.00142973;ARL=247;DER=51;DEA=75;QR=33;QA=36;PBP=306;PBM=294;TYPE=SNP;DBXREF=dbSNP:rs111569109,g1000:0.0050,esp5400:0.0056,ExAC:0.0021,GnomAD_AC_exome:510,GnomAD_AN_exome:243870,GnomAD_AC_genome:113,GnomAD_AN_genome:30974,GnomAD:0.0023;SGVEP=EPHB2|+|NM_001309192|4|c.967+30G>C|.|intronic GT:DP:AD:DP4 0/1:52:26,26:11,15,13,13 1 23219493 96912056 T C 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=221;DEA=73;QA=37;PBP=2241;PBM=2443;TYPE=SNP;DBXREF=dbSNP:rs309472,g1000:0.9982,esp5400:0.9943,ExAC:0.9960,GnomAD_AC_exome:245379,GnomAD_AN_exome:246234,GnomAD_AC_genome:30878,GnomAD_AN_genome:30978,GnomAD:0.9966;SGVEP=EPHB2|+|NM_001309192|7|c.1545T>C|p.(Gly515:)|synonymous GT:DP:AD:DP4 1/1:161:0,161:0,0,77,84 1 23223116 96912726 C T 313 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=277;DEA=50;QA=36;PBP=171;PBM=142;TYPE=SNP;DBXREF=dbSNP:rs309466,g1000:0.3848,GnomAD_AC_genome:13660,GnomAD_AN_genome:30846,GnomAD:0.4428;SGVEP=EPHB2|+|NM_001309192|7|c.1591+3577C>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 1 23232400 96914320 C T 875 off_target VARTYPE=1;BGN=0.00119188;ARL=261;DEA=44;QA=37;PBP=467;PBM=409;TYPE=SNP;DBXREF=dbSNP:rs309502,g1000:0.5120,GnomAD_AC_genome:17292,GnomAD_AN_genome:30840,GnomAD:0.5607;SGVEP=EPHB2|+|NM_001309192|8|c.1592-80C>T|.|intronic GT:DP:AD:DP4 1/1:30:0,30:0,0,16,14 1 23236826 96916842 C T 2241 off_target VARTYPE=1;BGN=0.00119188;ARL=251;DEA=53;QA=37;PBP=1196;PBM=1050;TYPE=SNP;DBXREF=dbSNP:rs309497,g1000:0.5130,esp5400:0.5806,ExAC:0.4940,GnomAD_AC_exome:119396,GnomAD_AN_exome:242920,GnomAD_AC_genome:17220,GnomAD_AN_genome:30798,GnomAD:0.4991;SGVEP=EPHB2|+|NM_001309192|12|c.2329-49C>T|.|intronic GT:DP:AD:DP4 1/1:77:0,77:0,0,41,36 1 23885498 97201144 T C 378 PASS VARTYPE=1;BGN=0.00119188;ARL=242;DER=107;DEA=124;QR=35;QA=37;PBP=216;PBM=169;TYPE=SNP;DBXREF=dbSNP:rs11574,g1000:0.8904,esp5400:0.8246,ExAC:0.8030,PhyloP:-0.7340,SIFT:0.1350,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.5490,MutationTaster:0.0000,GERP:-2.7600,GnomAD_AC_exome:195763,GnomAD_AN_exome:245986,GnomAD_AC_genome:24981,GnomAD_AN_genome:30896,GnomAD:0.7972;SGVEP=ID3|-|NM_002167|2|c.313A>G|p.(Thr105Ala)|missense GT:DP:AD:DP4 0/1:59:41,18:21,20,10,8 1 24018277 96859 C G 992 off_target VARTYPE=1;BGN=0.00119188;ARL=238;DEA=86;QA=37;PBP=467;PBM=526;TYPE=SNP;DBXREF=dbSNP:rs10917413,g1000:0.9768,esp5400:0.9832,ExAC:0.9950,clinvar:rs10917413,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:245133,GnomAD_AN_exome:246232,GnomAD_AC_genome:30490,GnomAD_AN_genome:30970,GnomAD:0.9943;SGVEP=RPL11|+|NM_000975|1|c.-37C>G|.|5'UTR GT:DP:AD:DP4 1/1:34:0,34:0,0,16,18 1 24022437 97274279 A G 1404 off_target VARTYPE=1;BGN=0.00119188;ARL=230;DER=62;DEA=56;QR=36;QA=37;PBP=728;PBM=688;TYPE=SNP;DBXREF=dbSNP:rs2280437,g1000:0.3337,esp5400:0.3246,ExAC:0.2990,GnomAD_AC_exome:58961,GnomAD_AN_exome:157760,GnomAD_AC_genome:10869,GnomAD_AN_genome:30924,GnomAD:0.3701;SGVEP=RPL11|+|NM_000975|5|c.507+39A>G|.|intronic GT:DP:AD:DP4 0/1:109:50,59:23,27,30,29 1 24129126 97329100 A G 911 off_target VARTYPE=1;BGN=0.00171504;ARL=232;DEA=42;QA=35;PBP=442;PBM=470;TYPE=SNP;DBXREF=dbSNP:rs2076343,g1000:0.2103,GnomAD_AC_genome:8663,GnomAD_AN_genome:30928,GnomAD:0.2801;SGVEP=HMGCL|-|NM_000191|9|c.877-72T>C|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,16,17 1 24134721 96901 T C 2761 PASS VARTYPE=1;BGN=0.00119188;ARL=211;DEA=82;QA=37;PBP=1370;PBM=1399;TYPE=SNP;DBXREF=dbSNP:rs719400,g1000:0.8874,esp5400:0.9264,ExAC:0.9040,PhyloP:0.7680,MutationTaster:1.0000,GERP:4.7400,clinvar:rs719400,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:222255,GnomAD_AN_exome:246200,GnomAD_AC_genome:28758,GnomAD_AN_genome:30904,GnomAD:0.9058;SGVEP=HMGCL|-|NM_000191|7|c.654A>G|p.(Leu218:)|synonymous GT:DP:AD:DP4 1/1:95:0,95:0,0,47,48 1 24143932 97342468 A G 2038 off_target VARTYPE=1;BGN=0.00119188;ARL=239;DEA=64;QA=37;PBP=1079;PBM=963;TYPE=SNP;DBXREF=dbSNP:rs2076344,g1000:0.8878,esp5400:0.9266,ExAC:0.9040,clinvar:rs2076344,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:221531,GnomAD_AN_exome:245268,GnomAD_AC_genome:28816,GnomAD_AN_genome:30968,GnomAD:0.9063;SGVEP=HMGCL|-|NM_000191|3|c.252+34T>C|.|intronic GT:DP:AD:DP4 1/1:70:0,70:0,0,37,33 1 24151996 97346078 C A 829 off_target VARTYPE=1;BGN=0.00171504;ARL=241;DER=46;DEA=59;QR=15;QA=35;PBP=111;PBM=718;TYPE=SNP;DBXREF=dbSNP:rs6697805,g1000:0.3928,GnomAD_AC_genome:12043,GnomAD_AN_genome:29846,GnomAD:0.4035;SGVEP=HMGCL|-|NM_000191|1|.|.|intergenic GT:DP:AD:DP4 1/1:30:0,30:0,0,4,26 1 24180962 96913 T C 337 PASS VARTYPE=1;BGN=0.00119188;ARL=222;DER=100;DEA=92;QR=37;QA=37;PBP=172;PBM=172;TYPE=SNP;DBXREF=dbSNP:rs13551,g1000:0.2113,esp5400:0.2636,ExAC:0.2790,PhyloP:0.8390,SIFT:0.9800,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:0.4580,MutationTaster:0.0000,GERP:3.6000,clinvar:rs13551,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:68859,GnomAD_AN_exome:246266,GnomAD_AC_genome:8645,GnomAD_AN_genome:30894,GnomAD:0.2796;SGVEP=FUCA1|-|NM_000147|5|c.857A>G|p.(Gln286Arg)|missense GT:DP:AD:DP4 0/1:52:36,16:18,18,8,8 1 24201094 97357537 G C 496 PASS VARTYPE=1;BGN=0.00119188;ARL=207;DER=84;DEA=82;QR=37;QA=37;PBP=263;PBM=240;TYPE=SNP;DBXREF=dbSNP:rs2229581,g1000:0.6534,esp5400:0.6388,ExAC:0.6190,GnomAD_AC_exome:152136,GnomAD_AN_exome:246230,GnomAD_AC_genome:19462,GnomAD_AN_genome:30888,GnomAD:0.6192;SGVEP=CNR2|-|NM_001841|2|c.1014C>G|p.(Thr338:)|synonymous GT:DP:AD:DP4 0/1:66:43,23:22,21,12,11 1 24201109 97357552 C T 644 PASS VARTYPE=1;BGN=0.00119188;ARL=208;DER=99;DEA=77;QR=37;QA=37;PBP=339;PBM=313;TYPE=SNP;DBXREF=dbSNP:rs2229580,g1000:0.6534,esp5400:0.6386,ExAC:0.6190,GnomAD_AC_exome:152154,GnomAD_AN_exome:246242,GnomAD_AC_genome:19452,GnomAD_AN_genome:30864,GnomAD:0.6193;SGVEP=CNR2|-|NM_001841|2|c.999G>A|p.(Pro333:)|synonymous GT:DP:AD:DP4 0/1:73:44,29:22,22,15,14 1 24201262 97357668 A G 1311 PASS VARTYPE=1;BGN=0.00119188;ARL=225;DER=82;DEA=107;QR=37;QA=37;PBP=668;PBM=655;TYPE=SNP;DBXREF=dbSNP:rs2502993,g1000:0.6534,esp5400:0.6383,ExAC:0.6190,GnomAD_AC_exome:152083,GnomAD_AN_exome:246116,GnomAD_AC_genome:19443,GnomAD_AN_genome:30848,GnomAD:0.6193;SGVEP=CNR2|-|NM_001841|2|c.846T>C|p.(Ala282:)|synonymous GT:DP:AD:DP4 0/1:101:46,55:25,21,28,27 1 24201357 97357724 A G 1096 PASS VARTYPE=1;BGN=0.00142973;ARL=217;DER=88;DEA=96;QR=37;QA=36;PBP=586;PBM=521;TYPE=SNP;DBXREF=dbSNP:rs4649124,g1000:0.6534,esp5400:0.6385,ExAC:0.6180,GnomAD_AC_exome:151751,GnomAD_AN_exome:245738,GnomAD_AC_genome:19466,GnomAD_AN_genome:30866,GnomAD:0.6190;SGVEP=CNR2|-|NM_001841|2|c.751T>C|p.(Leu251:)|synonymous GT:DP:AD:DP4 0/1:123:72,51:38,34,27,24 1 24201448 97357815 C T 904 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=105;DEA=94;QR=37;QA=37;PBP=470;PBM=443;TYPE=SNP;DBXREF=dbSNP:rs3003336,g1000:0.6534,esp5400:0.6392,ExAC:0.6180,GnomAD_AC_exome:149990,GnomAD_AN_exome:242890,GnomAD_AC_genome:19471,GnomAD_AN_genome:30892,GnomAD:0.6190;SGVEP=CNR2|-|NM_001841|2|c.660G>A|p.(Val220:)|synonymous GT:DP:AD:DP4 0/1:104:63,41:31,32,21,20 1 24201643 97357961 G A 1213 PASS VARTYPE=1;BGN=0.00119188;ARL=220;DER=96;DEA=77;QR=37;QA=37;PBP=592;PBM=633;TYPE=SNP;DBXREF=dbSNP:rs2501431,g1000:0.6534,esp5400:0.6385,ExAC:0.6190,GnomAD_AC_exome:151539,GnomAD_AN_exome:245176,GnomAD_AC_genome:19432,GnomAD_AN_genome:30852,GnomAD:0.6194;SGVEP=CNR2|-|NM_001841|2|c.465C>T|p.(Gly155:)|synonymous GT:DP:AD:DP4 0/1:150:94,56:45,49,27,29 1 24201919 97359916 T C 1155 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=97;DEA=108;QR=35;QA=37;PBP=575;PBM=591;TYPE=SNP;DBXREF=dbSNP:rs2502992,g1000:0.6540,esp5400:0.6082,ExAC:0.6170,GnomAD_AC_exome:151652,GnomAD_AN_exome:245614,GnomAD_AC_genome:19314,GnomAD_AN_genome:30722,GnomAD:0.6187;SGVEP=CNR2|-|NM_001841|2|c.189A>G|p.(Gln63:)|synonymous GT:DP:AD:DP4 0/1:115:64,51:30,34,25,26 1 24201920 97359918 T C 1092 PASS VARTYPE=1;BGN=0.000993604;ARL=218;DER=95;DEA=102;QR=35;QA=38;PBP=544;PBM=558;TYPE=SNP;DBXREF=dbSNP:rs2501432,g1000:0.6534,esp5400:0.6056,ExAC:0.6170,PhyloP:1.5850,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9540,MutationTaster:0.0000,GERP:5.1200,GnomAD_AC_exome:151662,GnomAD_AN_exome:245640,GnomAD_AC_genome:19316,GnomAD_AN_genome:30750,GnomAD:0.6186;SGVEP=CNR2|-|NM_001841|2|c.188A>G|p.(Gln63Arg)|missense GT:DP:AD:DP4 0/1:110:63,47:29,34,23,24 1 25233660 97935823 G A 302 off_target VARTYPE=1;BGN=0.00142973;ARL=245;DER=36;DEA=54;QR=36;QA=36;PBP=167;PBM=141;TYPE=SNP;DBXREF=dbSNP:rs114043123,g1000:0.0076,GnomAD_AC_genome:751,GnomAD_AN_genome:30930,GnomAD:0.0243;SGVEP=RUNX3|-|NM_001031680|5|c.745+90C>T|.|intronic GT:DP:AD:DP4 0/1:25:12,13:6,6,7,6 1 25253969 97947437 C G 202 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=260;DER=34;DEA=50;QR=33;QA=35;PBP=112;PBM=95;SP=0;TYPE=SNP;DBXREF=dbSNP:rs111937885,g1000:0.0032,GnomAD_AC_genome:48,GnomAD_AN_genome:30962,GnomAD:0.0016;SGVEP=RUNX3|-|NM_001031680|3|c.481+96G>C|.|intronic GT:DP:AD:DP4 0/1:18:9,9:6,3,5,4 1 25254317 97947739 C T 385 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=272;DER=65;DEA=59;QR=38;QA=35;PBP=185;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs7517302,g1000:0.5451,GnomAD_AC_genome:15909,GnomAD_AN_genome:30884,GnomAD:0.5151;SGVEP=RUNX3|-|NM_001031680|3|c.325-96G>A|.|intronic GT:DP:AD:DP4 1/1:18:3,15:1,2,7,8 1 25256278 97948667 TGCC T 142 low_variant_fraction VARTYPE=1;BGN=0.000993604;ARL=214;DER=92;DEA=106;QR=35;QA=103;PBP=74;PBM=73;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs751546599,ExAC:0.0006,GnomAD_AC_exome:216,GnomAD_AN_exome:41462,GnomAD_AC_genome:0,GnomAD_AN_genome:30564,GnomAD:0.0030;SGVEP=RUNX3|-|NM_001031680|2|c.121_123del|p.(Gly41del)|inframe_3 GT:DP:AD:DP4 0/1:180:170,10:83,87,5,5 1 25893221 98260312 G T 330 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=285;DEA=40;QA=38;PBP=240;PBM=90;TYPE=SNP;DBXREF=dbSNP:rs4523506,g1000:0.5695,GnomAD_AC_genome:16460,GnomAD_AN_genome:30870,GnomAD:0.5332;SGVEP=LDLRAP1|+|NM_015627|9|c.783-118G>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,8,3 1 25893242 98260334 T C 584 off_target VARTYPE=1;BGN=0.00119188;ARL=269;DEA=48;QA=37;PBP=321;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs4418583,g1000:0.5881,GnomAD_AC_genome:17218,GnomAD_AN_genome:30778,GnomAD:0.5594;SGVEP=LDLRAP1|+|NM_015627|9|c.783-97T>C|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,11,9 1 25893243 98260342 G A 584 off_target VARTYPE=1;BGN=0.00119188;ARL=269;DEA=49;QA=37;PBP=321;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs4603124,g1000:0.4163,GnomAD_AC_genome:12157,GnomAD_AN_genome:30788,GnomAD:0.3949;SGVEP=LDLRAP1|+|NM_015627|9|c.783-96G>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,11,9 1 26131654 96965 G A 1429 PASS VARTYPE=1;BGN=0.00119188;ARL=219;DER=59;DEA=67;QR=35;QA=37;PBP=692;PBM=750;TYPE=SNP;DBXREF=dbSNP:rs7349185,g1000:0.8419,esp5400:0.7883,ExAC:0.8140,PhyloP:0.1680,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9620,MutationTaster:0.0000,GERP:1.5800,clinvar:rs7349185,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:201207,GnomAD_AN_exome:245950,GnomAD_AC_genome:24130,GnomAD_AN_genome:30856,GnomAD:0.8141;SGVEP=SELENON|+|NM_020451|4|c.425G>A|.|invalid-transcript GT:DP:AD:DP4 0/1:151:87,64:45,42,31,33 1 26138136 98385464 C A 534 off_target VARTYPE=1;BGN=0.00119188;ARL=241;DER=98;DEA=100;QR=36;QA=37;PBP=283;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs760598,g1000:0.7470,esp5400:0.6843,ExAC:0.7790,clinvar:rs760598,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:192248,GnomAD_AN_exome:243298,GnomAD_AC_genome:21307,GnomAD_AN_genome:30846,GnomAD:0.7790;SGVEP=SELENON|+|NM_020451|9|c.1093-46C>A|.|invalid-transcript GT:DP:AD:DP4 0/1:49:26,23:13,13,12,11 1 26138262 96982 T C 1134 PASS VARTYPE=1;BGN=0.00119188;ARL=215;DER=98;DEA=86;QR=37;QA=37;PBP=575;PBM=569;TYPE=SNP;DBXREF=dbSNP:rs760597,g1000:0.7919,esp5400:0.7365,ExAC:0.7860,clinvar:rs760597,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:169392,GnomAD_AN_exome:209238,GnomAD_AC_genome:22836,GnomAD_AN_genome:30878,GnomAD:0.8006;SGVEP=SELENON|+|NM_020451|9|c.1173T>C|.|invalid-transcript GT:DP:AD:DP4 0/1:92:44,48:21,23,24,24 1 26138451 98385524 A G 261 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=256;DER=69;DEA=53;QR=35;QA=38;PBP=133;PBM=133;TYPE=SNP;DBXREF=dbSNP:rs11247744,g1000:0.7919,GnomAD_AC_genome:22824,GnomAD_AN_genome:30854,GnomAD:0.7397;SGVEP=SELENON|+|NM_020451|9|c.1281+81A>G|.|invalid-transcript GT:DP:AD:DP4 0/1:16:6,10:3,3,5,5 1 26139137 98385580 C T 508 off_target VARTYPE=1;BGN=0.00142973;ARL=232;DER=95;DEA=39;QR=38;QA=36;PBP=238;PBM=274;TYPE=SNP;DBXREF=dbSNP:rs10902685,g1000:0.6977,esp5400:0.6347,ExAC:0.7580,clinvar:rs10902685,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:163860,GnomAD_AN_exome:206702,GnomAD_AC_genome:19637,GnomAD_AN_genome:30312,GnomAD:0.7742;SGVEP=SELENON|+|NM_020451|10|c.1282-41C>T|.|invalid-transcript GT:DP:AD:DP4 1/1:22:3,19:2,1,9,10 1 26139392 98385630 A G 129 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=265;DER=44;DEA=25;QR=38;QA=35;PBP=66;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3738451,g1000:0.7953,GnomAD_AC_genome:22824,GnomAD_AN_genome:30848,GnomAD:0.7399;SGVEP=SELENON|+|NM_020451|10|c.1387+109A>G|.|invalid-transcript GT:DP:AD:DP4 0/1:15:9,6:5,4,3,3 1 26140573 96993 C A 1335 PASS VARTYPE=1;BGN=0.00142973;ARL=209;DER=82;DEA=81;QR=37;QA=36;PBP=662;PBM=685;TYPE=SNP;DBXREF=dbSNP:rs2294228,g1000:0.6975,esp5400:0.6288,ExAC:0.7730,PhyloP:0.2710,SIFT:0.9790,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.9730,MutationTaster:0.9000,GERP:2.5800,clinvar:rs2294228,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:193469,GnomAD_AN_exome:246108,GnomAD_AC_genome:19988,GnomAD_AN_genome:30822,GnomAD:0.7708;SGVEP=SELENON|+|NM_020451|12|c.1506C>A|.|invalid-transcript GT:DP:AD:DP4 0/1:136:75,61:37,38,30,31 1 26349967 98505326 C T 1192 off_target VARTYPE=1;BGN=0.00142973;ARL=258;DEA=43;QA=36;PBP=426;PBM=767;TYPE=SNP;DBXREF=dbSNP:rs1938405,g1000:0.5815,esp5400:0.4488,ExAC:0.3540,GnomAD_AC_exome:34002,GnomAD_AN_exome:52604,GnomAD_AC_genome:17170,GnomAD_AN_genome:30874,GnomAD:0.6130;SGVEP=EXTL1|+|NM_004455|1|c.779+51C>T|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,15,27 1 26357656 98506031 C A 1362 PASS VARTYPE=1;BGN=0.00142973;ARL=210;DEA=72;QA=36;PBP=682;PBM=682;TYPE=SNP;DBXREF=dbSNP:rs2736831,g1000:0.5942,esp5400:0.5400,ExAC:0.6740,PhyloP:2.4530,SIFT:0.9170,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0290,LRT:0.9900,MutationTaster:0.4430,GERP:4.7000,GnomAD_AC_exome:168945,GnomAD_AN_exome:246116,GnomAD_AC_genome:18614,GnomAD_AN_genome:30888,GnomAD:0.6771;SGVEP=EXTL1|+|NM_004455|5|c.1135C>A|p.(His379Asn)|missense GT:DP:AD:DP4 1/1:48:0,48:0,0,24,24 1 26357855 98506072 A G 625 off_target VARTYPE=1;BGN=0.00142973;ARL=264;DEA=115;QA=36;PBP=284;PBM=341;TYPE=SNP;DBXREF=dbSNP:rs2802321,g1000:0.9732,GnomAD_AC_genome:30174,GnomAD_AN_genome:30914,GnomAD:0.9761;SGVEP=EXTL1|+|NM_004455|6|c.1235-96A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,10,12 1 26369297 98508748 T C 467 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=271;DEA=50;QA=37;PBP=205;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs2997451,g1000:0.8722,GnomAD_AC_genome:27378,GnomAD_AN_genome:30932,GnomAD:0.8851;SGVEP=SLC30A2|-|NM_001004434|5|c.573-98A>G|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,7,9 1 26371788 98509815 G A 682 off_target VARTYPE=1;BGN=0.00142973;ARL=250;DEA=35;QA=36;PBP=313;PBM=370;TYPE=SNP;DBXREF=dbSNP:rs3121763,g1000:0.8119,GnomAD_AC_genome:25518,GnomAD_AN_genome:30940,GnomAD:0.8248;SGVEP=SLC30A2|-|NM_001004434|2|c.51-80C>T|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,11,13 1 26509803 98574973 C T 661 off_target VARTYPE=1;BGN=0.00142973;ARL=217;DER=90;DEA=91;QR=36;QA=36;PBP=347;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs115769731,g1000:0.0060,esp5400:0.0083,ExAC:0.0092,GnomAD_AC_exome:2408,GnomAD_AN_exome:246202,GnomAD_AC_genome:281,GnomAD_AN_genome:30934,GnomAD:0.0097;SGVEP=CNKSR1|+|NM_001297647|8|c.685-34C>T|.|intronic GT:DP:AD:DP4 0/1:79:48,31:24,24,16,15 1 26511700 98578940 A G 995 off_target VARTYPE=1;BGN=0.00119188;ARL=223;DER=70;DEA=64;QR=35;QA=37;PBP=485;PBM=519;TYPE=SNP;DBXREF=dbSNP:rs2783680,g1000:0.7109,esp5400:0.5669,ExAC:0.5500,GnomAD_AC_exome:97945,GnomAD_AN_exome:143274,GnomAD_AC_genome:18159,GnomAD_AN_genome:30776,GnomAD:0.6671;SGVEP=CNKSR1|+|NM_001297647|14|c.1329+23A>G|.|intronic GT:DP:AD:DP4 0/1:80:38,42:16,22,20,22 1 26515529 98583294 ACCAGACT A 312 off_target VARTYPE=1;BGN=0.000993604;ARL=239;DER=21;DEA=65;QR=37;QA=240;PBP=150;PBM=167;TYPE=INDEL;DBXREF=dbSNP:rs775317820,g1000:0.9467,GnomAD_AC_genome:29234,GnomAD_AN_genome:30762,GnomAD:0.9503;SGVEP=CNKSR1|+|NM_001297647|20|c.1893+101_1893+107del|.|intronic GT:DP:AD:DP4 0/1:29:16,13:6,10,6,7 1 26524706 98591051 A G 1370 off_target VARTYPE=1;BGN=0.00119188;ARL=243;DEA=81;QA=37;PBP=642;PBM=730;TYPE=SNP;DBXREF=dbSNP:rs9970046,g1000:0.6725,GnomAD_AC_genome:26293,GnomAD_AN_genome:30922,GnomAD:0.8503;SGVEP=CATSPER4|+|NM_198137|6|c.679-71A>G|.|intronic GT:DP:AD:DP4 1/1:47:0,47:0,0,22,25 1 26526375 98592497 G A 784 PASS VARTYPE=1;BGN=0.00119188;ARL=236;DER=89;DEA=60;QR=37;QA=37;PBP=408;PBM=385;TYPE=SNP;DBXREF=dbSNP:rs144835190,g1000:0.0068,esp5400:0.0092,ExAC:0.0110,GnomAD_AC_exome:2715,GnomAD_AN_exome:246198,GnomAD_AC_genome:308,GnomAD_AN_genome:30974,GnomAD:0.0109;SGVEP=CATSPER4|+|NM_198137|7|c.813G>A|p.(Gln271:)|synonymous GT:DP:AD:DP4 0/1:84:49,35:25,24,18,17 1 26526554 98592879 G A 863 PASS VARTYPE=1;BGN=0.00119188;ARL=220;DER=77;DEA=63;QR=36;QA=37;PBP=422;PBM=450;TYPE=SNP;DBXREF=dbSNP:rs6700024,g1000:0.1915,esp5400:0.2431,ExAC:0.1850,GnomAD_AC_exome:43772,GnomAD_AN_exome:240500,GnomAD_AC_genome:7164,GnomAD_AN_genome:30920,GnomAD:0.1877;SGVEP=CATSPER4|+|NM_198137|7|c.987+5G>A|.|intronic GT:DP:AD:DP4 0/1:98:59,39:30,29,19,20 1 26527163 98593290 C A 282 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=291;DER=29;DEA=28;QR=38;QA=38;PBP=142;PBM=142;TYPE=SNP;DBXREF=dbSNP:rs11247870,g1000:0.3153,GnomAD_AC_genome:11846,GnomAD_AN_genome:30780,GnomAD:0.3849;SGVEP=CATSPER4|+|NM_198137|8|c.988-158C>A|.|intronic GT:DP:AD:DP4 1/1:12:2,10:1,1,5,5 1 26527255 98593332 G A 353 off_target VARTYPE=1;BGN=0.00119188;ARL=258;DER=94;DEA=38;QR=38;QA=37;PBP=193;PBM=167;TYPE=SNP;DBXREF=dbSNP:rs12145714,g1000:0.2057,GnomAD_AC_genome:8062,GnomAD_AN_genome:30784,GnomAD:0.2619;SGVEP=CATSPER4|+|NM_198137|8|c.988-66G>A|.|intronic GT:DP:AD:DP4 0/1:31:16,15:8,8,8,7 1 26527260 98593338 A G 364 off_target VARTYPE=1;BGN=0.00119188;ARL=258;DER=73;DEA=42;QR=37;QA=37;PBP=185;PBM=185;TYPE=SNP;DBXREF=dbSNP:rs12120359,g1000:0.2057,GnomAD_AC_genome:8062,GnomAD_AN_genome:30784,GnomAD:0.2619;SGVEP=CATSPER4|+|NM_198137|8|c.988-61A>G|.|intronic GT:DP:AD:DP4 0/1:38:22,16:11,11,8,8 1 26527304 98593536 T C 668 off_target VARTYPE=1;BGN=0.00142973;ARL=233;DER=70;DEA=65;QR=36;QA=36;PBP=351;PBM=325;TYPE=SNP;DBXREF=dbSNP:rs12121284,g1000:0.2057,esp5400:0.2737,ExAC:0.2070,GnomAD_AC_exome:49311,GnomAD_AN_exome:244374,GnomAD_AC_genome:8081,GnomAD_AN_genome:30836,GnomAD:0.2085;SGVEP=CATSPER4|+|NM_198137|8|c.988-17T>C|.|intronic GT:DP:AD:DP4 0/1:76:45,31:22,23,16,15 1 26527310 98593563 C G 665 off_target VARTYPE=1;BGN=0.00119188;ARL=233;DER=76;DEA=73;QR=37;QA=37;PBP=362;PBM=311;TYPE=SNP;DBXREF=dbSNP:rs12118976,g1000:0.1945,esp5400:0.2613,ExAC:0.2040,GnomAD_AC_exome:48793,GnomAD_AN_exome:244638,GnomAD_AC_genome:7807,GnomAD_AN_genome:30860,GnomAD:0.2054;SGVEP=CATSPER4|+|NM_198137|8|c.988-11C>G|.|intronic GT:DP:AD:DP4 0/1:76:46,30:23,23,16,14 1 26527783 98594229 G A 723 off_target VARTYPE=1;BGN=0.00142973;ARL=243;DER=43;DEA=48;QR=33;QA=36;PBP=392;PBM=339;TYPE=SNP;DBXREF=dbSNP:rs6703730,g1000:0.1693,GnomAD_AC_genome:7724,GnomAD_AN_genome:30822,GnomAD:0.2506;SGVEP=CATSPER4|+|NM_198137|9|c.1200-62G>A|.|intronic GT:DP:AD:DP4 0/1:48:18,30:9,9,16,14 1 26527809 98594297 A C 650 off_target VARTYPE=1;BGN=0.00119188;ARL=235;DER=64;DEA=50;QR=35;QA=37;PBP=362;PBM=297;TYPE=SNP;DBXREF=dbSNP:rs1889755,g1000:0.2184,esp5400:0.0085,ExAC:0.2200,GnomAD_AC_exome:52986,GnomAD_AN_exome:244568,GnomAD_AC_genome:8617,GnomAD_AN_genome:30702,GnomAD:0.2238;SGVEP=CATSPER4|+|NM_198137|9|c.1200-36A>C|.|intronic GT:DP:AD:DP4 0/1:70:41,29:23,18,16,13 1 26527810 98594314 G A 658 off_target VARTYPE=1;BGN=0.00119188;ARL=235;DER=65;DEA=51;QR=34;QA=37;PBP=366;PBM=299;TYPE=SNP;DBXREF=dbSNP:rs1889756,g1000:0.2184,esp5400:0.0040,ExAC:0.2200,GnomAD_AC_exome:52970,GnomAD_AN_exome:244640,GnomAD_AC_genome:8615,GnomAD_AN_genome:30700,GnomAD:0.2237;SGVEP=CATSPER4|+|NM_198137|9|c.1200-35G>A|.|intronic GT:DP:AD:DP4 0/1:67:38,29:21,17,16,13 1 26527951 98594628 G A 1882 PASS VARTYPE=1;BGN=0.00119188;ARL=217;DER=103;DEA=92;QR=36;QA=37;PBP=914;PBM=983;TYPE=SNP;DBXREF=dbSNP:rs6657616,g1000:0.2103,esp5400:0.2871,ExAC:0.2230,PhyloP:2.3930,SIFT:0.9160,PolyPhen2:0.2510,PolyPhen2_HumDiv:0.7790,LRT:0.9860,MutationTaster:0.0000,GERP:3.1000,GnomAD_AC_exome:54039,GnomAD_AN_exome:246150,GnomAD_AC_genome:8621,GnomAD_AN_genome:30722,GnomAD:0.2263;SGVEP=CATSPER4|+|NM_198137|9|c.1306G>A|p.(Asp436Asn)|missense GT:DP:AD:DP4 0/1:182:99,83:48,51,40,43 1 26528922 98595747 C G 493 off_target VARTYPE=1;BGN=0.00119188;ARL=236;DER=44;DEA=34;QR=37;QA=37;PBP=263;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs10902720,g1000:0.3750,esp5400:0.3942,GnomAD_AC_genome:13016,GnomAD_AN_genome:30802,GnomAD:0.4226;SGVEP=CATSPER4|+|NM_198137|10|c.1366-58C>G|.|intronic GT:DP:AD:DP4 0/1:43:22,21:11,11,11,10 1 26529121 98596356 G C 909 off_target VARTYPE=1;BGN=0.00142973;ARL=241;DEA=35;QA=36;PBP=398;PBM=512;TYPE=SNP;DBXREF=dbSNP:rs6691747,g1000:0.4405,GnomAD_AC_genome:16999,GnomAD_AN_genome:30860,GnomAD:0.5508;SGVEP=CATSPER4|+|NM_198137|10|.|.|intergenic GT:DP:AD:DP4 1/1:32:0,32:0,0,14,18 1 26786627 98793229 G A 1341 PASS VARTYPE=1;BGN=0.00119188;ARL=231;DEA=80;QA=37;PBP=642;PBM=701;TYPE=SNP;DBXREF=dbSNP:rs3816539,g1000:0.4553,esp5400:0.2883,ExAC:0.3130,PhyloP:-0.1760,SIFT:0.8900,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0020,LRT:0.9280,MutationTaster:0.0000,GERP:-1.4200,clinvar:rs3816539,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:75096,GnomAD_AN_exome:246184,GnomAD_AC_genome:9375,GnomAD_AN_genome:30898,GnomAD:0.3049;SGVEP=DHDDS|+|NM_001243564|7|c.655G>A|p.(Val219Met)|missense GT:DP:AD:DP4 1/1:46:0,46:0,0,22,24 1 27696011 99201072 C T 1220 off_target VARTYPE=1;BGN=0.00142973;ARL=254;DEA=60;QA=36;PBP=597;PBM=625;TYPE=SNP;DBXREF=dbSNP:rs10218730,g1000:0.9924,esp5400:0.9918,ExAC:0.9980,GnomAD_AC_exome:242227,GnomAD_AN_exome:242672,GnomAD_AC_genome:30711,GnomAD_AN_genome:30966,GnomAD:0.9974;SGVEP=FCN3|-|NM_003665|8|c.659-43G>A|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,21,22 1 27699670 97052 AGGG AGG 588 PASS VARTYPE=1;BGN=0.017189;ARL=219;DER=84;DEA=83;QR=37;QA=37;HL=3;PBP=323;PBM=277;TYPE=INDEL;DBXREF=dbSNP:rs532781899,g1000:0.0188,ExAC:0.0170,clinvar:rs532781899,CLNSIG:Pathogenic,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:3990,GnomAD_AN_exome:246092,GnomAD_AC_genome:505,GnomAD_AN_genome:30894,GnomAD:0.0162;OVLP=rs532781899;SGVEP=FCN3|-|NM_003665|5|c.349del|p.(Leu117Serfs*65)|frameshift GT:DP:AD:DP4 0/1:109:57,51:28,29,27,24 1 28586376 99518466 C G 975 PASS VARTYPE=1;BGN=0.00119188;ARL=208;DER=70;DEA=71;QR=36;QA=37;PBP=502;PBM=482;TYPE=SNP;DBXREF=dbSNP:rs34315986,g1000:0.0341,esp5400:0.0297,ExAC:0.0130,GnomAD_AC_exome:746,GnomAD_AN_exome:25044,GnomAD_AC_genome:966,GnomAD_AN_genome:30852,GnomAD:0.0306;SGVEP=SESN2|+|NM_031459|1|c.18C>G|p.(Ser6:)|synonymous GT:DP:AD:DP4 0/1:77:36,41:19,17,21,20 1 29345009 99996589 C CTT 311 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=223;DER=0;DEA=56;QR=36;QA=73;PBP=142;PBM=172;TYPE=INDEL;DBXREF=dbSNP:rs5773229,g1000:0.9277,GnomAD_AC_genome:27750,GnomAD_AN_genome:30900,GnomAD:0.8981;SGVEP=EPB41|+|NM_001166005|7|c.1124+55_1124+56insTT|.|intronic GT:DP:AD:DP4 1/1:13:2,11:1,1,5,6 1 31351513 100878042 G A 1344 PASS VARTYPE=1;BGN=0.00119188;ARL=227;DER=105;DEA=99;QR=37;QA=37;PBP=740;PBM=616;TYPE=SNP;DBXREF=dbSNP:rs1891419,g1000:0.1779,esp5400:0.2108,ExAC:0.2590,GnomAD_AC_exome:65399,GnomAD_AN_exome:246216,GnomAD_AC_genome:7309,GnomAD_AN_genome:30882,GnomAD:0.2624;SGVEP=SDC3|-|NM_014654|2|c.213C>T|p.(Pro71:)|synonymous GT:DP:AD:DP4 0/1:129:70,59:36,34,32,27 1 33241444 101668911 C T 225 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=292;DER=44;DEA=30;QR=31;QA=35;PBP=125;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs41265857,g1000:0.0010,clinvar:rs41265857,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:28,GnomAD_AN_genome:30964,GnomAD:0.0009;SGVEP=YARS|-|NM_003680|13|c.*138G>A|.|3'UTR GT:DP:AD:DP4 0/1:12:3,9:2,1,5,4 1 33276424 101683264 G A 1305 off_target VARTYPE=1;BGN=0.00142973;ARL=248;DEA=112;QA=36;PBP=710;PBM=597;TYPE=SNP;DBXREF=dbSNP:rs4951787,g1000:0.9840,GnomAD_AC_genome:30526,GnomAD_AN_genome:30942,GnomAD:0.9866;SGVEP=YARS|-|NM_003680|3|c.205-57C>T|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,25,21 1 33547768 101781522 T C 336 off_target VARTYPE=1;BGN=0.00119188;ARL=266;DER=74;DEA=77;QR=31;QA=37;PBP=167;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs1871322,g1000:0.3153,GnomAD_AC_genome:9272,GnomAD_AN_genome:30804,GnomAD:0.3010;SGVEP=AZIN2|+|NM_001293562|3|c.-72-11T>C|.|intronic GT:DP:AD:DP4 0/1:27:13,14:8,5,7,7 1 33560338 101800785 A G 2501 off_target VARTYPE=1;BGN=0.00119188;ARL=255;DEA=69;QA=37;PBP=1108;PBM=1399;TYPE=SNP;DBXREF=dbSNP:rs804428,g1000:0.9886,esp5400:0.9602,ExAC:0.9700,GnomAD_AC_exome:237903,GnomAD_AN_exome:245370,GnomAD_AC_genome:29889,GnomAD_AN_genome:30916,GnomAD:0.9693;SGVEP=AZIN2|+|NM_001293562|7|c.753+24A>G|.|intronic GT:DP:AD:DP4 1/1:86:0,86:0,0,38,48 1 35227362 102489012 C G 1447 PASS VARTYPE=1;BGN=0.00142973;ARL=228;DER=106;DEA=80;QR=35;QA=36;PBP=735;PBM=724;TYPE=SNP;DBXREF=dbSNP:rs79193415,g1000:0.0313,esp5400:0.0282,ExAC:0.0350,PhyloP:0.3550,SIFT:1.0000,PolyPhen2:1.0000,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:2.8400,clinvar:rs79193415,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:8126,GnomAD_AN_exome:245880,GnomAD_AC_genome:934,GnomAD_AN_genome:30940,GnomAD:0.0327;SGVEP=GJB4|+|NM_153212|2|c.507C>G|p.(Cys169Trp)|missense GT:DP:AD:DP4 0/1:146:80,66:38,42,33,33 1 35251229 102502681 G A 473 off_target VARTYPE=1;BGN=0.00119188;ARL=223;DER=38;DEA=78;QR=32;QA=37;PBP=216;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs476220,g1000:0.4040,clinvar:rs476220,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:15190,GnomAD_AN_genome:30872,GnomAD:0.4920;SGVEP=GJB3|+|NM_001005752|2|c.*53G>A|.|3'UTR GT:DP:AD:DP4 0/1:40:20,20:9,11,9,11 1 35332926 102526710 G C 294 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=280;DER=145;DEA=70;QR=38;QA=36;PBP=134;PBM=162;TYPE=SNP;DBXREF=dbSNP:rs1001616,g1000:0.4026,GnomAD_AC_genome:8711,GnomAD_AN_genome:30818,GnomAD:0.2827;SGVEP=DLGAP3|-|NM_001080418|11|c.2578-134C>G|.|intronic GT:DP:AD:DP4 1/1:13:2,11:1,1,5,6 1 36553673 103108127 A G 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=201;DEA=89;QA=37;PBP=1661;PBM=1748;TYPE=SNP;DBXREF=dbSNP:rs399393,g1000:0.9387,esp5400:0.9202,ExAC:0.9240,GnomAD_AC_exome:227051,GnomAD_AN_exome:245014,GnomAD_AC_genome:28599,GnomAD_AN_genome:30904,GnomAD:0.9265;SGVEP=TEKT2|+|NM_014466|10|c.1179A>G|p.(Thr393:)|synonymous GT:DP:AD:DP4 1/1:117:0,117:0,0,57,60 1 36563158 103115027 C A 1368 off_target VARTYPE=1;BGN=0.00119188;ARL=215;DER=18;DEA=43;QR=38;QA=37;PBP=716;PBM=658;TYPE=SNP;DBXREF=dbSNP:rs3738360,g1000:0.6564,esp5400:0.7795,ExAC:0.7970,GnomAD_AC_exome:189719,GnomAD_AN_exome:238204,GnomAD_AC_genome:23264,GnomAD_AN_genome:30742,GnomAD:0.7919;SGVEP=COL8A2|-|NM_001294347|4|c.*12G>T|.|3'UTR GT:DP:AD:DP4 1/1:50:2,48:1,1,25,23 1 36565584 103120971 C G 1283 off_target VARTYPE=1;BGN=0.00119188;ARL=246;DEA=46;QA=37;PBP=701;PBM=584;TYPE=SNP;DBXREF=dbSNP:rs274753,g1000:0.9217,GnomAD_AC_genome:27736,GnomAD_AN_genome:30888,GnomAD:0.8980;SGVEP=COL8A2|-|NM_001294347|3|c.-3+212G>C|.|intronic GT:DP:AD:DP4 1/1:44:0,44:0,0,24,20 1 36565617 103120996 G A 2548 off_target VARTYPE=1;BGN=0.00142973;ARL=229;DEA=52;QA=36;PBP=1362;PBM=1192;TYPE=SNP;DBXREF=dbSNP:rs274754,g1000:0.4826,esp5400:0.6472,ExAC:0.6480,GnomAD_AC_exome:157110,GnomAD_AN_exome:242486,GnomAD_AC_genome:19361,GnomAD_AN_genome:30846,GnomAD:0.6456;SGVEP=COL8A2|-|NM_001294347|3|c.-3+179C>T|.|intronic GT:DP:AD:DP4 1/1:90:0,90:0,0,48,42 1 38006359 103836527 A G 866 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=68;DEA=67;QR=37;QA=37;PBP=386;PBM=489;TYPE=SNP;DBXREF=dbSNP:rs2174769,g1000:0.7220,esp5400:0.7218,ExAC:0.8080,GnomAD_AC_exome:187702,GnomAD_AN_exome:228866,GnomAD_AC_genome:23334,GnomAD_AN_genome:30926,GnomAD:0.8123;SGVEP=SNIP1|-|NM_024700|3|c.328-3T>C|.|intronic GT:DP:AD:DP4 0/1:65:29,36:14,15,16,20 1 38078300 103847459 A G 141 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=267;DER=14;DEA=30;QR=35;QA=37;PBP=96;PBM=48;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4652964,g1000:0.4686,GnomAD_AC_genome:14204,GnomAD_AN_genome:30822,GnomAD:0.4608;SGVEP=RSPO1|-|NM_001038633|8|c.*127T>C|.|3'UTR GT:DP:AD:DP4 0/1:14:8,6:5,3,4,2 1 38079517 103847673 T G 749 PASS VARTYPE=1;BGN=0.00119188;ARL=228;DER=110;DEA=112;QR=36;QA=37;PBP=393;PBM=369;TYPE=SNP;DBXREF=dbSNP:rs36043533,g1000:0.0483,esp5400:0.0407,ExAC:0.0530,PhyloP:2.1890,SIFT:0.9860,PolyPhen2:0.3010,PolyPhen2_HumDiv:0.6420,LRT:1.0000,MutationTaster:1.0000,GERP:5.4200,GnomAD_AC_exome:12723,GnomAD_AN_exome:246050,GnomAD_AC_genome:1103,GnomAD_AN_genome:30926,GnomAD:0.0499;SGVEP=RSPO1|-|NM_001038633|7|c.484A>C|p.(Lys162Gln)|missense GT:DP:AD:DP4 0/1:101:64,35:32,32,18,17 1 38327935 103970611 CAG C 522 off_target VARTYPE=1;BGN=0.000993604;ARL=245;DER=69;DEA=48;QR=36;QA=73;PBP=278;PBM=250;TYPE=INDEL;DBXREF=dbSNP:rs140670679,g1000:0.1731,GnomAD_AC_genome:6380,GnomAD_AN_genome:30862,GnomAD:0.2067;SGVEP=INPP5B|-|NM_001297434|18|c.*50_*51del|.|3'UTR GT:DP:AD:DP4 0/1:39:18,21:9,9,11,10 1 38327982 103970651 G T 824 PASS VARTYPE=1;BGN=0.00119188;ARL=219;DER=64;DEA=67;QR=37;QA=37;PBP=467;PBM=366;TYPE=SNP;DBXREF=dbSNP:rs3843,g1000:0.5256,esp5400:0.6004,ExAC:0.6400,GnomAD_AC_exome:158359,GnomAD_AN_exome:245812,GnomAD_AC_genome:18639,GnomAD_AN_genome:30916,GnomAD:0.6396;SGVEP=INPP5B|-|NM_001297434|18|c.*5C>A|.|3'UTR GT:DP:AD:DP4 0/1:79:43,36:22,21,20,16 1 38328104 103970757 T G 827 PASS VARTYPE=1;BGN=0.00119188;ARL=211;DER=75;DEA=54;QR=36;QA=37;PBP=392;PBM=444;TYPE=SNP;DBXREF=dbSNP:rs370532382,ExAC:0.0001,PhyloP:2.3020,MutationTaster:1.0000,GERP:5.7300,GnomAD_AC_exome:13,GnomAD_AN_exome:245670,GnomAD_AC_genome:2,GnomAD_AN_genome:30910,GnomAD:0.0001;SGVEP=INPP5B|-|NM_001297434|18|c.2135-2A>C|p.(?)|splice_acceptor_-2 GT:DP:AD:DP4 0/1:78:42,36:21,21,17,19 1 38334317 103972695 T A 485 off_target VARTYPE=1;BGN=0.00119188;ARL=244;DER=81;DEA=82;QR=38;QA=37;PBP=248;PBM=244;TYPE=SNP;DBXREF=dbSNP:rs2306425,g1000:0.2358,esp5400:0.2415,ExAC:0.2570,GnomAD_AC_exome:63171,GnomAD_AN_exome:242016,GnomAD_AC_genome:8062,GnomAD_AN_genome:30842,GnomAD:0.2611;SGVEP=INPP5B|-|NM_001297434|14|c.1696-31A>T|.|intronic GT:DP:AD:DP4 0/1:58:36,22:17,19,11,11 1 38334318 103972718 C A 485 off_target VARTYPE=1;BGN=0.00119188;ARL=244;DER=80;DEA=81;QR=38;QA=37;PBP=248;PBM=244;TYPE=SNP;DBXREF=dbSNP:rs2306426,g1000:0.2358,esp5400:0.2429,ExAC:0.2570,GnomAD_AC_exome:63110,GnomAD_AN_exome:241572,GnomAD_AC_genome:8063,GnomAD_AN_genome:30858,GnomAD:0.2613;SGVEP=INPP5B|-|NM_001297434|14|c.1696-32G>T|.|intronic GT:DP:AD:DP4 0/1:58:36,22:17,19,11,11 1 38338795 103973980 A G 663 PASS VARTYPE=1;BGN=0.00119188;ARL=229;DER=86;DEA=67;QR=38;QA=37;PBP=322;PBM=348;TYPE=SNP;DBXREF=dbSNP:rs11488569,g1000:0.5236,esp5400:0.5998,ExAC:0.6400,PhyloP:0.0260,SIFT:0.2190,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.5280,MutationTaster:0.0000,GERP:2.5900,GnomAD_AC_exome:158578,GnomAD_AN_exome:246232,GnomAD_AC_genome:18584,GnomAD_AN_genome:30890,GnomAD:0.6393;SGVEP=INPP5B|-|NM_001297434|13|c.1502T>C|p.(Met501Thr)|missense GT:DP:AD:DP4 0/1:65:36,29:18,18,14,15 1 38341518 103975029 G A 359 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=271;DEA=36;QA=35;PBP=166;PBM=194;TYPE=SNP;DBXREF=dbSNP:rs12752414,g1000:0.9555,GnomAD_AC_genome:29723,GnomAD_AN_genome:30958,GnomAD:0.9601;SGVEP=INPP5B|-|NM_001297434|11|c.1186-130C>T|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 1 38345896 103976440 A C 1104 off_target VARTYPE=1;BGN=0.00119188;ARL=227;DER=64;DEA=49;QR=38;QA=37;PBP=532;PBM=582;TYPE=SNP;DBXREF=dbSNP:rs2306427,g1000:0.5230,esp5400:0.5983,ExAC:0.6390,GnomAD_AC_exome:153614,GnomAD_AN_exome:239010,GnomAD_AC_genome:18519,GnomAD_AN_genome:30792,GnomAD:0.6380;SGVEP=INPP5B|-|NM_001297434|9|c.940-30T>G|.|intronic GT:DP:AD:DP4 0/1:83:37,46:18,19,22,24 1 38397341 103997983 G A 751 PASS VARTYPE=1;BGN=0.00119188;ARL=210;DER=92;DEA=104;QR=36;QA=37;PBP=393;PBM=367;TYPE=SNP;DBXREF=dbSNP:rs34655914,g1000:0.3550,ExAC:0.3780,PhyloP:-1.2970,SIFT:0.8920,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0160,GERP:-7.9800,GnomAD_AC_exome:65069,GnomAD_AN_exome:130800,GnomAD_AC_genome:13746,GnomAD_AN_genome:30642,GnomAD:0.4882;SGVEP=INPP5B|-|NM_001297434|1|c.40+4C>T|.|splice_donor_+4 GT:DP:AD:DP4 0/1:100:65,35:32,33,18,17 1 38397369 103998013 C T 753 PASS VARTYPE=1;BGN=0.00119188;ARL=208;DER=89;DEA=87;QR=36;QA=37;PBP=369;PBM=393;TYPE=SNP;DBXREF=dbSNP:rs35267671,g1000:0.3552,ExAC:0.4190,PhyloP:-0.4640,SIFT:1.0000,PolyPhen2:0.0770,PolyPhen2_HumDiv:0.6970,LRT:0.9250,MutationTaster:1.0000,GERP:-1.9700,GnomAD_AC_exome:72310,GnomAD_AN_exome:144608,GnomAD_AC_genome:13763,GnomAD_AN_genome:30706,GnomAD:0.4910;SGVEP=INPP5B|-|NM_001297434|1|c.16G>A|p.(Gly6Ser)|missense GT:DP:AD:DP4 0/1:99:64,35:32,32,17,18 1 38411350 104003020 C T 476 off_target VARTYPE=1;BGN=0.00119188;ARL=258;DER=58;DEA=54;QR=35;QA=37;PBP=266;PBM=216;TYPE=SNP;DBXREF=dbSNP:rs11485595,g1000:0.2806,GnomAD_AC_genome:11460,GnomAD_AN_genome:30902,GnomAD:0.3708;SGVEP=INPP5B|-|NM_005540|3|c.152+78G>A|.|intronic GT:DP:AD:DP4 0/1:39:19,20:10,9,11,9 1 38411445 104003147 G A 1200 PASS VARTYPE=1;BGN=0.00119188;ARL=219;DER=84;DEA=91;QR=37;QA=37;PBP=618;PBM=592;TYPE=SNP;DBXREF=dbSNP:rs871524,g1000:0.2019,esp5400:0.2336,ExAC:0.2840,GnomAD_AC_exome:70361,GnomAD_AN_exome:245430,GnomAD_AC_genome:8564,GnomAD_AN_genome:30892,GnomAD:0.2856;SGVEP=INPP5B|-|NM_005540|3|c.135C>T|p.(His45:)|synonymous GT:DP:AD:DP4 0/1:99:48,51:24,24,26,25 1 39494687 104528080 G A 175 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=179;DER=50;DEA=50;QR=35;QA=35;PBP=70;PBM=109;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3768323,g1000:0.5397,GnomAD_AC_genome:19519,GnomAD_AN_genome:27532,GnomAD:0.7090;SGVEP=NDUFS5|+|NM_001184979|2|c.216+75G>A|.|intronic GT:DP:AD:DP4 0/1:18:10,8:3,7,3,5 1 39500186 104529989 G A 1211 off_target VARTYPE=1;BGN=0.00119188;ARL=221;DER=63;DEA=61;QR=37;QA=37;PBP=586;PBM=635;TYPE=SNP;DBXREF=dbSNP:rs6981,g1000:0.0154,esp5400:0.0378,ExAC:0.0390,clinvar:rs6981,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:9660,GnomAD_AN_exome:245872,GnomAD_AC_genome:1486,GnomAD_AN_genome:30972,GnomAD:0.0403;SGVEP=NDUFS5|+|NM_001184979|3|c.*18G>A|.|3'UTR GT:DP:AD:DP4 0/1:105:53,52:26,27,25,27 1 40555321 104963845 C T 265 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=287;DER=32;DEA=66;QR=38;QA=38;PBP=113;PBM=157;TYPE=SNP;DBXREF=dbSNP:rs3131651,g1000:0.4463,GnomAD_AC_genome:15690,GnomAD_AN_genome:30876,GnomAD:0.5082;SGVEP=PPT1|-|NM_000310|5|c.434-137G>A|.|intronic GT:DP:AD:DP4 0/1:15:5,10:1,4,4,6 1 40556922 104964536 T C 608 off_target VARTYPE=1;BGN=0.00171504;ARL=253;DEA=60;QA=35;PBP=332;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs3122439,g1000:0.9942,GnomAD_AC_genome:30800,GnomAD_AN_genome:30976,GnomAD:0.9943;SGVEP=PPT1|-|NM_000310|4|c.433+79A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,12,10 1 40557656 104965063 G A 305 off_target VARTYPE=1;BGN=0.000993604;ARL=248;DER=31;DEA=64;QR=38;QA=38;PBP=153;PBM=157;TYPE=SNP;DBXREF=dbSNP:rs6672053,g1000:0.6212,GnomAD_AC_genome:20253,GnomAD_AN_genome:30878,GnomAD:0.6559;SGVEP=PPT1|-|NM_000310|3|c.362+61C>T|.|intronic GT:DP:AD:DP4 0/1:21:9,12:5,4,6,6 1 40558256 104965839 C G 390 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=227;DEA=38;QA=38;PBP=210;PBM=180;TYPE=SNP;DBXREF=dbSNP:rs4481840,g1000:0.9946,GnomAD_AC_genome:30815,GnomAD_AN_genome:30982,GnomAD:0.9946;SGVEP=PPT1|-|NM_000310|2|c.125-77G>C|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 1 40562993 104968954 T C 274 off_target VARTYPE=1;BGN=0.00142973;ARL=222;DER=24;DEA=41;QR=38;QA=36;PBP=116;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs6600313,g1000:0.8327,clinvar:rs6600313,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:26107,GnomAD_AN_genome:30854,GnomAD:0.8461;SGVEP=PPT1|-|NM_000310|1|c.-83A>G|.|5'UTR GT:DP:AD:DP4 0/1:25:13,12:6,7,5,7 1 40737516 97316 T G 426 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=254;DEA=43;QA=36;PBP=227;PBM=199;TYPE=SNP;DBXREF=dbSNP:rs6677717,g1000:0.9932,esp5400:0.9896,ExAC:0.9850,clinvar:rs6677717,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:238243,GnomAD_AN_exome:241862,GnomAD_AC_genome:30445,GnomAD_AN_genome:30960,GnomAD:0.9848;SGVEP=ZMPSTE24|+|NM_005857|6|c.628-50T>G|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 1 40961449 105159558 T C 866 PASS VARTYPE=1;BGN=0.00119188;ARL=241;DER=105;DEA=98;QR=38;QA=37;PBP=462;PBM=412;TYPE=SNP;DBXREF=dbSNP:rs3795348,g1000:0.0439,esp5400:0.0428,ExAC:0.0380,GnomAD_AC_exome:9045,GnomAD_AN_exome:246188,GnomAD_AC_genome:1041,GnomAD_AN_genome:30982,GnomAD:0.0364;SGVEP=ZFP69|+|NM_001320178|6|c.1302T>C|p.(His434:)|synonymous GT:DP:AD:DP4 0/1:65:29,36:15,14,19,17 1 40980731 105166443 G T 1354 PASS VARTYPE=1;BGN=0.00142973;ARL=232;DER=103;DEA=98;QR=37;QA=36;PBP=667;PBM=697;TYPE=SNP;DBXREF=dbSNP:rs11208299,g1000:0.5421,esp5400:0.4639,ExAC:0.4440,PhyloP:0.5040,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.7610,MutationTaster:0.0600,GERP:3.9600,GnomAD_AC_exome:109362,GnomAD_AN_exome:246128,GnomAD_AC_genome:14100,GnomAD_AN_genome:30856,GnomAD:0.4457;SGVEP=EXO5|+|NM_001346946|3|c.515G>T|p.(Gly172Val)|missense GT:DP:AD:DP4 0/1:94:37,57:19,18,28,29 1 40981230 105167418 G A 1270 PASS VARTYPE=1;BGN=0.00119188;ARL=216;DER=98;DEA=107;QR=36;QA=37;PBP=645;PBM=637;TYPE=SNP;DBXREF=dbSNP:rs3795344,g1000:0.0431,esp5400:0.0426,ExAC:0.0380,GnomAD_AC_exome:8911,GnomAD_AN_exome:246066,GnomAD_AC_genome:1036,GnomAD_AN_genome:30860,GnomAD:0.0359;SGVEP=EXO5|+|NM_001346946|3|c.1014G>A|p.(Glu338:)|synonymous GT:DP:AD:DP4 0/1:125:69,56:33,36,28,28 1 40981245 105167489 C CG 1096 PASS VARTYPE=1;BGN=0.00142973;ARL=213;DER=97;DEA=99;QR=36;QA=36;PBP=552;PBM=555;TYPE=INDEL;DBXREF=dbSNP:rs150018949,g1000:0.0084,ExAC:0.0130,GnomAD_AC_exome:3147,GnomAD_AN_exome:246054,GnomAD_AC_genome:324,GnomAD_AN_genome:30834,GnomAD:0.0125;SGVEP=EXO5|+|NM_001346946|3|c.1029_1030insG|p.(Arg344Alafs*10)|frameshift GT:DP:AD:DP4 0/1:135:83,52:42,41,26,26 1 41101572 105235020 A G 10000 off_target VARTYPE=1;BGN=0.00142973;ARL=227;DEA=63;QA=36;PBP=2548;PBM=2379;TYPE=SNP;DBXREF=dbSNP:rs2253835,g1000:0.7091,esp5400:0.8311,ExAC:0.7380,GnomAD_AC_exome:178879,GnomAD_AN_exome:243834,GnomAD_AC_genome:24763,GnomAD_AN_genome:30906,GnomAD:0.7412;SGVEP=RIMS3|-|NM_014747|4|c.359+16T>C|.|intronic GT:DP:AD:DP4 1/1:174:0,174:0,0,90,84 1 41107360 105237175 T C 1603 off_target VARTYPE=1;BGN=0.00119188;ARL=217;DEA=59;QA=37;PBP=817;PBM=788;TYPE=SNP;DBXREF=dbSNP:rs491619,g1000:0.6979,esp5400:0.8215,ExAC:0.7250,GnomAD_AC_exome:176642,GnomAD_AN_exome:244894,GnomAD_AC_genome:24366,GnomAD_AN_genome:30890,GnomAD:0.7289;SGVEP=RIMS3|-|NM_014747|3|c.217+21A>G|.|intronic GT:DP:AD:DP4 1/1:55:0,55:0,0,28,27 1 41282919 105325119 C T 505 off_target VARTYPE=1;BGN=0.00119188;ARL=221;DER=90;DEA=62;QR=37;QA=37;PBP=240;PBM=273;TYPE=SNP;DBXREF=dbSNP:rs13374844,g1000:0.2005,esp5400:0.1453,ExAC:0.1560,clinvar:rs13374844,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:37753,GnomAD_AN_exome:240656,GnomAD_AC_genome:4963,GnomAD_AN_genome:30930,GnomAD:0.1573;SGVEP=KCNQ4|+|NM_004700|2|c.315-18C>T|.|intronic GT:DP:AD:DP4 0/1:39:18,21:10,8,10,11 1 41282921 105325137 C T 485 off_target VARTYPE=1;BGN=0.000993604;ARL=224;DER=83;DEA=65;QR=36;QA=38;PBP=242;PBM=250;TYPE=SNP;DBXREF=dbSNP:rs13374845,g1000:0.1985,esp5400:0.1458,ExAC:0.1550,clinvar:rs13374845,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:37720,GnomAD_AN_exome:241306,GnomAD_AC_genome:4923,GnomAD_AN_genome:30932,GnomAD:0.1566;SGVEP=KCNQ4|+|NM_004700|2|c.315-16C>T|.|intronic GT:DP:AD:DP4 0/1:41:20,20:11,9,10,10 1 41284119 105325926 C G 329 off_target VARTYPE=1;BGN=0.00205729;ARL=241;DER=80;DEA=84;QR=35;QA=34;PBP=169;PBM=166;TYPE=SNP;DBXREF=dbSNP:rs2296838,g1000:0.1995,GnomAD_AC_genome:4925,GnomAD_AN_genome:30794,GnomAD:0.1599;SGVEP=KCNQ4|+|NM_004700|4|c.533-58C>G|.|intronic GT:DP:AD:DP4 0/1:37:21,16:10,11,8,8 1 41284366 97378 G C 1486 off_target VARTYPE=1;BGN=0.00119188;ARL=210;DEA=47;QA=37;PBP=701;PBM=788;TYPE=SNP;DBXREF=dbSNP:rs2361660,g1000:0.5675,esp5400:0.6840,ExAC:0.6160,clinvar:rs2361660,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:122227,GnomAD_AN_exome:190176,GnomAD_AC_genome:20919,GnomAD_AN_genome:30808,GnomAD:0.6478;SGVEP=KCNQ4|+|NM_004700|4|c.708+14G>C|.|intronic GT:DP:AD:DP4 1/1:51:0,51:0,0,24,27 1 41284406 105326471 A G 689 off_target VARTYPE=1;BGN=0.000993604;ARL=230;DEA=34;QA=38;PBP=330;PBM=360;TYPE=SNP;DBXREF=dbSNP:rs2361659,g1000:0.5669,GnomAD_AC_genome:20882,GnomAD_AN_genome:30774,GnomAD:0.6786;SGVEP=KCNQ4|+|NM_004700|4|c.708+54A>G|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,11,12 1 41285087 97381 T C 3100 PASS VARTYPE=1;BGN=0.000993604;ARL=216;DEA=97;QA=38;PBP=1496;PBM=1615;TYPE=SNP;DBXREF=dbSNP:rs4660468,g1000:0.5633,esp5400:0.6712,ExAC:0.6510,PhyloP:-0.6950,MutationTaster:1.0000,GERP:-6.6600,clinvar:rs4660468,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:159252,GnomAD_AN_exome:246206,GnomAD_AC_genome:20689,GnomAD_AN_genome:30710,GnomAD:0.6498;SGVEP=KCNQ4|+|NM_004700|5|c.777T>C|p.(Ala259:)|synonymous GT:DP:AD:DP4 1/1:104:0,104:0,0,50,54 1 41285585 97398 G A 467 PASS VARTYPE=1;BGN=0.00142973;ARL=215;DER=94;DEA=92;QR=37;QA=36;PBP=260;PBM=215;TYPE=SNP;DBXREF=dbSNP:rs12117176,g1000:0.1156,esp5400:0.0661,ExAC:0.1050,PhyloP:-2.6010,MutationTaster:1.0000,GERP:-11.4000,clinvar:rs12117176,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:26144,GnomAD_AN_exome:246228,GnomAD_AC_genome:2664,GnomAD_AN_genome:30914,GnomAD:0.1039;SGVEP=KCNQ4|+|NM_004700|6|c.873G>A|p.(Pro291:)|synonymous GT:DP:AD:DP4 0/1:89:65,24:33,32,13,11 1 41285591 97399 A G 489 PASS VARTYPE=1;BGN=0.00119188;ARL=215;DER=100;DEA=98;QR=36;QA=37;PBP=270;PBM=227;TYPE=SNP;DBXREF=dbSNP:rs12143503,g1000:0.1162,esp5400:0.0632,ExAC:0.1050,PhyloP:-1.5290,MutationTaster:1.0000,GERP:-11.1000,clinvar:rs12143503,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:26161,GnomAD_AN_exome:246212,GnomAD_AC_genome:2664,GnomAD_AN_genome:30910,GnomAD:0.1040;SGVEP=KCNQ4|+|NM_004700|6|c.879A>G|p.(Thr293:)|synonymous GT:DP:AD:DP4 0/1:87:63,24:33,30,13,11 1 41287933 105329002 G A 208 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=230;DER=39;DEA=54;QR=32;QA=35;PBP=143;PBM=70;SP=0;TYPE=SNP;DBXREF=dbSNP:rs56173856,g1000:0.0008,esp5400:0.0025,GnomAD_AC_genome:54,GnomAD_AN_genome:30936,GnomAD:0.0017;SGVEP=KCNQ4|+|NM_004700|8|c.1042-53G>A|.|intronic GT:DP:AD:DP4 0/1:16:7,9:4,3,6,3 1 41288102 105329398 T G 206 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=197;DER=52;DEA=37;QR=31;QA=36;PBP=144;PBM=68;SP=2;TYPE=SNP;DBXREF=dbSNP:rs376712113,g1000:0.0040,GnomAD_AC_genome:194,GnomAD_AN_genome:3414,GnomAD:0.0568;SGVEP=KCNQ4|+|NM_004700|8|c.1130+28T>G|.|intronic GT:DP:AD:DP4 0/1:19:10,9:5,5,6,3 1 41289993 105330778 T C 767 off_target VARTYPE=1;BGN=0.00142973;ARL=250;DEA=52;QA=36;PBP=313;PBM=455;TYPE=SNP;DBXREF=dbSNP:rs3767940,g1000:0.3093,GnomAD_AC_genome:8287,GnomAD_AN_genome:30836,GnomAD:0.2687;SGVEP=KCNQ4|+|NM_004700|9|c.1292+63T>C|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,11,16 1 43201534 106218812 G A 1393 PASS VARTYPE=1;BGN=0.00142973;ARL=216;DER=104;DEA=105;QR=37;QA=36;PBP=737;PBM=667;TYPE=SNP;DBXREF=dbSNP:rs4660658,g1000:0.1905,esp5400:0.1814,ExAC:0.1390,PhyloP:-0.8220,SIFT:0.9920,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-2.5200,clinvar:rs4660658,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:31083,GnomAD_AN_exome:173358,GnomAD_AC_genome:5556,GnomAD_AN_genome:30820,GnomAD:0.1794;SGVEP=CLDN19|-|NM_001185117|3|c.556C>T|p.(Arg186Cys)|missense GT:DP:AD:DP4 0/1:135:72,63:37,35,33,30 1 43212431 97448 A G 2848 PASS VARTYPE=1;BGN=0.00119188;ARL=220;DEA=91;QA=37;PBP=1399;PBM=1457;TYPE=SNP;DBXREF=dbSNP:rs4660662,g1000:1.0000,ExAC:0.9990,clinvar:rs4660662,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:158520,GnomAD_AN_exome:158532,GnomAD_AC_genome:30928,GnomAD_AN_genome:30928,GnomAD:0.9999;SGVEP=P3H1|-|NM_022356|15|c.2148T>C|p.(Gly716:)|synonymous GT:DP:AD:DP4 1/1:98:0,98:0,0,48,50 1 43212869 106220084 A T 2503 PASS VARTYPE=1;BGN=0.00119188;ARL=220;DER=97;DEA=99;QR=36;QA=37;PBP=1246;PBM=1276;TYPE=SNP;DBXREF=dbSNP:rs3738496,g1000:0.1210,esp5400:0.1067,ExAC:0.1230,PhyloP:-1.2520,SIFT:1.0000,PolyPhen2:0.0250,PolyPhen2_HumDiv:0.0210,MutationTaster:0.0000,GERP:-4.5400,GnomAD_AC_exome:31890,GnomAD_AN_exome:245392,GnomAD_AC_genome:3491,GnomAD_AN_genome:30918,GnomAD:0.1280;SGVEP=P3H1|-|NM_001243246|14|c.2129T>A|p.(Phe710Tyr)|missense GT:DP:AD:DP4 0/1:188:83,105:42,41,52,53 1 43213103 106220188 A C 1024 off_target VARTYPE=1;BGN=0.00142973;ARL=246;DER=49;DEA=81;QR=35;QA=36;PBP=507;PBM=525;TYPE=SNP;DBXREF=dbSNP:rs3738498,g1000:0.0615,esp5400:0.0610,ExAC:0.0700,clinvar:rs3738498,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:16436,GnomAD_AN_exome:237586,GnomAD_AC_genome:1929,GnomAD_AN_genome:30912,GnomAD:0.0684;SGVEP=P3H1|-|NM_001146289|14|c.1915-20T>G|.|intronic GT:DP:AD:DP4 0/1:71:28,43:13,15,21,22 1 43213499 106220245 C T 473 off_target VARTYPE=1;BGN=0.00119188;ARL=225;DER=54;DEA=54;QR=36;QA=37;PBP=216;PBM=265;TYPE=SNP;DBXREF=dbSNP:rs3738499,g1000:0.5541,esp5400:0.5171,ExAC:0.5970,GnomAD_AC_exome:148245,GnomAD_AN_exome:246018,GnomAD_AC_genome:16498,GnomAD_AN_genome:30860,GnomAD:0.5950;SGVEP=P3H1|-|NM_001146289|13|c.1839-30G>A|.|intronic GT:DP:AD:DP4 0/1:64:42,22:21,21,10,12 1 43213797 106220282 A G 628 off_target VARTYPE=1;BGN=0.00119188;ARL=230;DER=47;DEA=22;QR=33;QA=37;PBP=366;PBM=269;TYPE=SNP;DBXREF=dbSNP:rs3738500,g1000:0.1212,GnomAD_AC_genome:3491,GnomAD_AN_genome:30916,GnomAD:0.1129;SGVEP=P3H1|-|NM_001146289|12|c.1838+74T>C|.|intronic GT:DP:AD:DP4 0/1:47:21,26:12,9,15,11 1 43215930 106220557 C T 2256 PASS VARTYPE=1;BGN=0.00119188;ARL=210;DER=101;DEA=104;QR=37;QA=37;PBP=1111;PBM=1163;TYPE=SNP;DBXREF=dbSNP:rs11581921,g1000:0.0575,esp5400:0.0633,ExAC:0.0700,PhyloP:1.1670,SIFT:0.7170,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0100,LRT:1.0000,MutationTaster:0.1130,GERP:4.2200,clinvar:rs11581921,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:16698,GnomAD_AN_exome:245604,GnomAD_AC_genome:1819,GnomAD_AN_genome:30902,GnomAD:0.0670;SGVEP=P3H1|-|NM_001146289|11|c.1647G>A|p.(Met549Ile)|missense GT:DP:AD:DP4 0/1:222:122,100:61,61,49,51 1 43221187 106221214 C T 302 off_target VARTYPE=1;BGN=0.000993604;ARL=250;DER=58;DEA=70;QR=38;QA=38;PBP=153;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs3738502,g1000:0.0535,esp5400:0.0593,ExAC:0.0680,GnomAD_AC_exome:16291,GnomAD_AN_exome:245256,GnomAD_AC_genome:1726,GnomAD_AN_genome:30938,GnomAD:0.0652;SGVEP=P3H1|-|NM_001146289|6|c.1170+32G>A|.|intronic GT:DP:AD:DP4 0/1:22:10,12:5,5,6,6 1 43228189 106221975 T A 2153 off_target VARTYPE=1;BGN=0.00142973;ARL=239;DEA=43;QA=36;PBP=1079;PBM=1079;TYPE=SNP;DBXREF=dbSNP:rs2816593,g1000:0.9936,esp5400:0.9893,ExAC:0.9860,GnomAD_AC_exome:242675,GnomAD_AN_exome:246034,GnomAD_AC_genome:30541,GnomAD_AN_genome:30968,GnomAD:0.9863;SGVEP=P3H1|-|NM_001146289|2|c.466-43A>T|.|intronic GT:DP:AD:DP4 1/1:76:0,76:0,0,38,38 1 43296354 106265763 G T 304 off_target VARTYPE=1;BGN=0.00142973;ARL=253;DER=114;DEA=118;QR=34;QA=36;PBP=181;PBM=130;TYPE=SNP;DBXREF=dbSNP:rs12727498,GnomAD_AC_genome:10716,GnomAD_AN_genome:30874,GnomAD:0.3471;SGVEP=ERMAP|+|NM_001017922|4|c.86-85G>T|.|intronic GT:DP:AD:DP4 0/1:35:20,14:10,10,8,6 1 43300663 106267714 T C 231 off_target VARTYPE=1;BGN=0.00119188;ARL=240;DER=45;DEA=42;QR=36;QA=37;PBP=154;PBM=83;SP=1;TYPE=SNP;DBXREF=dbSNP:rs4660672,g1000:0.5825,esp5400:0.6616,ExAC:0.6660,GnomAD_AC_exome:162599,GnomAD_AN_exome:243976,GnomAD_AC_genome:20852,GnomAD_AN_genome:30922,GnomAD:0.6673;SGVEP=ERMAP|+|NM_001017922|5|c.434-46T>C|.|intronic GT:DP:AD:DP4 0/1:38:27,11:14,13,7,4 1 43300921 106268006 C G 292 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=276;DEA=43;QA=37;PBP=146;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs4660673,g1000:0.7476,GnomAD_AC_genome:25252,GnomAD_AN_genome:30926,GnomAD:0.8165;SGVEP=ERMAP|+|NM_001017922|5|c.550+96C>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 43305753 106270317 G A 630 off_target VARTYPE=1;BGN=0.000993604;ARL=226;DER=112;DEA=92;QR=37;QA=38;PBP=320;PBM=318;TYPE=SNP;DBXREF=dbSNP:rs12034000,g1000:0.2604,esp5400:0.2284,ExAC:0.2370,GnomAD_AC_exome:55918,GnomAD_AN_exome:246038,GnomAD_AC_genome:6764,GnomAD_AN_genome:30888,GnomAD:0.2263;SGVEP=ERMAP|+|NM_001017922|9|c.658+29G>A|.|intronic GT:DP:AD:DP4 0/1:77:49,28:24,25,14,14 1 43393245 106327642 G GGGTGAGAAAT 666 off_target VARTYPE=1;BGN=0.000993604;ARL=243;DER=65;DEA=92;QR=36;QA=365;PBP=350;PBM=323;TYPE=INDEL;DBXREF=dbSNP:rs11282849,g1000:0.6174,ExAC:0.5160,GnomAD_AC_genome:17008,GnomAD_AN_genome:30750,GnomAD:0.5531;SGVEP=SLC2A1|-|NM_006516|9|c.1278+30_1278+31insATTTCTCACC|.|intronic GT:DP:AD:DP4 0/1:51:24,27:12,12,14,13 1 43395635 97696 C T 1769 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=106;DEA=97;QR=35;QA=37;PBP=869;PBM=915;TYPE=SNP;DBXREF=dbSNP:rs2229682,g1000:0.1196,esp5400:0.1482,ExAC:0.1820,clinvar:rs2229682,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:45665,GnomAD_AN_exome:246148,GnomAD_AC_genome:4797,GnomAD_AN_genome:30854,GnomAD:0.1822;SGVEP=SLC2A1|-|NM_006516|5|c.588G>A|p.(Pro196:)|synonymous GT:DP:AD:DP4 0/1:194:114,80:56,58,39,41 1 43396414 97722 G A 1170 PASS VARTYPE=1;BGN=0.00119188;ARL=219;DER=105;DEA=103;QR=37;QA=37;PBP=575;PBM=607;TYPE=SNP;DBXREF=dbSNP:rs11537641,g1000:0.1414,esp5400:0.1619,ExAC:0.1880,clinvar:rs11537641,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:46067,GnomAD_AN_exome:241734,GnomAD_AC_genome:5234,GnomAD_AN_genome:30856,GnomAD:0.1882;SGVEP=SLC2A1|-|NM_006516|4|c.399C>T|p.(Cys133:)|synonymous GT:DP:AD:DP4 0/1:132:79,53:41,38,26,27 1 43408966 97801 G A 362 PASS VARTYPE=1;BGN=0.000993604;ARL=215;DER=91;DEA=114;QR=36;QA=38;PBP=183;PBM=185;TYPE=SNP;DBXREF=dbSNP:rs1385129,g1000:0.2404,esp5400:0.2027,ExAC:0.2390,clinvar:rs1385129,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:59083,GnomAD_AN_exome:244498,GnomAD_AC_genome:6632,GnomAD_AN_genome:30914,GnomAD:0.2386;SGVEP=SLC2A1|-|NM_006516|2|c.45C>T|p.(Ala15:)|synonymous GT:DP:AD:DP4 0/1:45:29,16:15,14,8,8 1 43652369 106464463 T C 1830 off_target VARTYPE=1;BGN=0.00119188;ARL=225;DER=36;DEA=44;QR=38;QA=37;PBP=977;PBM=861;TYPE=SNP;DBXREF=dbSNP:rs6413971,g1000:0.9968,esp5400:0.9960,ExAC:0.9990,GnomAD_AC_exome:246105,GnomAD_AN_exome:246260,GnomAD_AC_genome:30801,GnomAD_AN_genome:30876,GnomAD:0.9992;SGVEP=CFAP57|+|NM_001167965|6|c.970-9T>C|.|intronic GT:DP:AD:DP4 1/1:66:2,64:1,1,34,30 1 43663376 106467921 A G 2761 off_target VARTYPE=1;BGN=0.00119188;ARL=228;DEA=63;QA=37;PBP=1370;PBM=1399;TYPE=SNP;DBXREF=dbSNP:rs513009,g1000:0.7188,esp5400:0.8052,ExAC:0.8340,GnomAD_AC_exome:205619,GnomAD_AN_exome:246166,GnomAD_AC_genome:24703,GnomAD_AN_genome:30932,GnomAD:0.8312;SGVEP=CFAP57|+|NM_001167965|7|c.1262+13A>G|.|intronic GT:DP:AD:DP4 1/1:95:0,95:0,0,47,48 1 43672636 106471109 T G 1588 off_target VARTYPE=1;BGN=0.00142973;ARL=217;DEA=49;QA=36;PBP=739;PBM=852;TYPE=SNP;DBXREF=dbSNP:rs11210812,g1000:0.4742,esp5400:0.4220,ExAC:0.5340,GnomAD_AC_exome:131262,GnomAD_AN_exome:242214,GnomAD_AC_genome:15002,GnomAD_AN_genome:30864,GnomAD:0.5356;SGVEP=CFAP57|+|NM_001167965|10|c.1755+33T>G|.|intronic GT:DP:AD:DP4 1/1:56:0,56:0,0,26,30 1 43675467 106472113 G A 2858 PASS VARTYPE=1;BGN=0.00142973;ARL=220;DEA=69;QA=36;PBP=1532;PBM=1334;TYPE=SNP;DBXREF=dbSNP:rs2453412,g1000:0.6949,esp5400:0.7718,ExAC:0.7910,GnomAD_AC_exome:194323,GnomAD_AN_exome:246094,GnomAD_AC_genome:23509,GnomAD_AN_genome:30876,GnomAD:0.7865;SGVEP=CFAP57|+|NM_001167965|11|c.1809G>A|p.(Ser603:)|synonymous GT:DP:AD:DP4 1/1:101:0,101:0,0,54,47 1 43680855 106474061 G A 483 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=274;DEA=60;QA=36;PBP=256;PBM=227;TYPE=SNP;DBXREF=dbSNP:rs4233492,g1000:0.9922,GnomAD_AC_genome:30693,GnomAD_AN_genome:30976,GnomAD:0.9909;SGVEP=CFAP57|+|NM_001195831|12|c.1930-71G>A|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 1 43681184 106474214 C T 304 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=268;DEA=29;QA=35;PBP=138;PBM=166;TYPE=SNP;DBXREF=dbSNP:rs612626,g1000:0.6953,GnomAD_AC_genome:23511,GnomAD_AN_genome:30864,GnomAD:0.7618;SGVEP=CFAP57|+|NM_001195831|12|c.2091+97C>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 1 43699813 106505865 A G 292 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=271;DEA=30;QA=37;PBP=146;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs3820588,g1000:0.7857,GnomAD_AC_genome:23574,GnomAD_AN_genome:30710,GnomAD:0.7676;SGVEP=CFAP57|+|NM_001195831|21|c.3226-137A>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 43699935 106505869 C T 2270 off_target VARTYPE=1;BGN=0.00119188;ARL=236;DEA=74;QA=37;PBP=1137;PBM=1137;TYPE=SNP;DBXREF=dbSNP:rs2477561,g1000:0.9946,ExAC:0.9980,GnomAD_AC_exome:135972,GnomAD_AN_exome:136078,GnomAD_AC_genome:30737,GnomAD_AN_genome:30896,GnomAD:0.9984;SGVEP=CFAP57|+|NM_001195831|21|c.3226-15C>T|.|intronic GT:DP:AD:DP4 1/1:78:0,78:0,0,39,39 1 43700140 106505891 A G 10000 off_target VARTYPE=1;BGN=0.00119188;ARL=246;DER=131;DEA=118;QR=38;QA=37;PBP=1835;PBM=1777;TYPE=SNP;DBXREF=dbSNP:rs2483688,g1000:0.7963,ExAC:0.7930,GnomAD_AC_exome:109364,GnomAD_AN_exome:136712,GnomAD_AC_genome:24186,GnomAD_AN_genome:30846,GnomAD:0.7970;SGVEP=CFAP57|+|NM_001195831|22|c.3361-26A>G|.|intronic GT:DP:AD:DP4 1/1:124:0,124:0,0,63,61 1 43812075 106544286 G A 1225 off_target VARTYPE=1;BGN=0.00119188;ARL=236;DEA=47;QA=37;PBP=671;PBM=555;TYPE=SNP;DBXREF=dbSNP:rs1760670,g1000:0.2097,esp5400:0.3248,ExAC:0.2970,clinvar:rs1760670,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:73277,GnomAD_AN_exome:241558,GnomAD_AC_genome:9218,GnomAD_AN_genome:30862,GnomAD:0.3028;SGVEP=MPL|+|NM_005373|7|c.981-41G>A|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,23,19 1 43814864 106545734 T C 608 off_target VARTYPE=1;BGN=0.00171504;ARL=241;DEA=55;QA=35;PBP=359;PBM=249;TYPE=SNP;DBXREF=dbSNP:rs839995,g1000:0.2037,GnomAD_AC_genome:8823,GnomAD_AN_genome:30524,GnomAD:0.2891;SGVEP=MPL|+|NM_005373|10|c.1469-70T>C|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,13,9 1 44290530 98004 A G 3166 PASS VARTYPE=1;BGN=0.00119188;ARL=216;DEA=78;QA=37;PBP=1574;PBM=1603;TYPE=SNP;DBXREF=dbSNP:rs37458,g1000:0.2364,esp5400:0.3352,ExAC:0.2710,PhyloP:-0.0100,SIFT:0.4400,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-0.0277,clinvar:rs37458,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:59478,GnomAD_AN_exome:206008,GnomAD_AC_genome:9852,GnomAD_AN_genome:30916,GnomAD:0.2926;SGVEP=ST3GAL3|+|NM_174963|5|c.382A>G|p.(Thr128Ala)|missense GT:DP:AD:DP4 1/1:109:0,109:0,0,54,55 1 44365457 106833284 A G 877 off_target VARTYPE=1;BGN=0.00119188;ARL=246;DER=40;DEA=33;QR=35;QA=37;PBP=455;PBM=432;TYPE=SNP;DBXREF=dbSNP:rs783304,g1000:0.2804,GnomAD_AC_genome:6938,GnomAD_AN_genome:30878,GnomAD:0.2247;SGVEP=ST3GAL3|+|NM_001270459|9|c.744+58A>G|.|intronic GT:DP:AD:DP4 0/1:62:26,36:10,16,18,18 1 44365529 106833310 G A 284 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=270;DEA=17;QA=36;PBP=114;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs783303,g1000:0.7674,GnomAD_AC_genome:25057,GnomAD_AN_genome:30912,GnomAD:0.8106;SGVEP=ST3GAL3|+|NM_001270459|9|c.744+130G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,4,6 1 44386305 106837096 C T 710 off_target VARTYPE=1;BGN=0.00142973;ARL=268;DEA=98;QA=36;PBP=313;PBM=398;TYPE=SNP;DBXREF=dbSNP:rs3120802,g1000:0.7498,GnomAD_AC_genome:24452,GnomAD_AN_genome:30860,GnomAD:0.7924;SGVEP=ST3GAL3|+|NM_001270459|10|c.801+83C>T|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,11,14 1 44386615 106837255 A G 2548 off_target VARTYPE=1;BGN=0.00142973;ARL=235;DEA=82;QA=36;PBP=1249;PBM=1305;TYPE=SNP;DBXREF=dbSNP:rs3120803,g1000:0.8091,esp5400:0.8491,ExAC:0.8700,clinvar:rs3120803,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:193440,GnomAD_AN_exome:219392,GnomAD_AC_genome:26154,GnomAD_AN_genome:30838,GnomAD:0.8776;SGVEP=ST3GAL3|+|NM_001270459|11|c.948+15A>G|.|intronic GT:DP:AD:DP4 1/1:90:0,90:0,0,44,46 1 44386642 106837273 G C 939 off_target VARTYPE=1;BGN=0.000993604;ARL=241;DER=76;DEA=67;QR=35;QA=38;PBP=426;PBM=522;TYPE=SNP;DBXREF=dbSNP:rs3764833,g1000:0.0687,esp5400:0.0526,ExAC:0.0420,GnomAD_AC_exome:8575,GnomAD_AN_exome:164716,GnomAD_AC_genome:1718,GnomAD_AN_genome:30898,GnomAD:0.0526;SGVEP=ST3GAL3|+|NM_001270459|11|c.948+42G>C|.|intronic GT:DP:AD:DP4 0/1:70:32,38:14,18,17,21 1 44386760 106837295 GAA GA 144 low_coverage;off_target VARTYPE=1;BGN=0.0135344;ARL=284;DER=24;DEA=25;QR=32;QA=32;HL=2;PBP=43;PBM=106;SP=2;TYPE=INDEL;DBXREF=dbSNP:rs397841012,g1000:0.0531,GnomAD_AC_genome:1252,GnomAD_AN_genome:30862,GnomAD:0.0406;SGVEP=ST3GAL3|+|NM_001270459|11|c.948+162del|.|intronic GT:DP:AD:DP4 0/1:17:7,10:3,4,3,7 1 44395786 106839106 C T 989 off_target VARTYPE=1;BGN=0.00119188;ARL=207;DER=57;DEA=56;QR=36;QA=37;PBP=493;PBM=505;TYPE=SNP;DBXREF=dbSNP:rs2108202,g1000:0.5188,esp5400:0.5883,ExAC:0.6680,PhyloP:1.2510,MutationTaster:0.0000,GERP:2.4700,clinvar:rs2108202,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:166258,GnomAD_AN_exome:245700,GnomAD_AC_genome:18790,GnomAD_AN_genome:30894,GnomAD:0.6690;SGVEP=ST3GAL3|+|NM_001270459|12|c.949-18C>T|.|intronic GT:DP:AD:DP4 0/1:65:25,40:14,11,20,20 1 44445667 106864433 T C 1159 off_target VARTYPE=1;BGN=0.00171504;ARL=212;DEA=43;QA=35;PBP=580;PBM=580;TYPE=SNP;DBXREF=dbSNP:rs3762423,g1000:0.1224,ExAC:0.0530,GnomAD_AC_exome:7810,GnomAD_AN_exome:112232,GnomAD_AC_genome:2907,GnomAD_AN_genome:30906,GnomAD:0.0749;SGVEP=B4GALT2|+|NM_003780|1|c.-53+484T>C|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,21,21 1 44446651 106864588 T C 359 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=276;DEA=34;QA=35;PBP=221;PBM=138;TYPE=SNP;DBXREF=dbSNP:rs2486005,g1000:0.3438,GnomAD_AC_genome:8568,GnomAD_AN_genome:30820,GnomAD:0.2780;SGVEP=B4GALT2|+|NM_001005417|2|c.-52-130T>C|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,8,5 1 44447413 106865029 G C 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=75;DEA=93;QR=38;QA=37;PBP=2742;PBM=2733;TYPE=SNP;DBXREF=dbSNP:rs1859728,g1000:0.0797,esp5400:0.0551,ExAC:0.0640,PhyloP:0.4980,SIFT:0.9490,PolyPhen2:0.9750,PolyPhen2_HumDiv:0.9980,LRT:1.0000,MutationTaster:1.0000,GERP:3.0600,GnomAD_AC_exome:15628,GnomAD_AN_exome:245204,GnomAD_AC_genome:1747,GnomAD_AN_genome:30888,GnomAD:0.0629;SGVEP=B4GALT2|+|NM_001005417|3|c.366G>C|p.(Gln122His)|missense GT:DP:AD:DP4 1/1:190:0,189:0,0,95,94 1 44451115 106866184 A G 125 low_coverage;off_target VARTYPE=1;BGN=0.00355106;ARL=201;DER=12;DEA=51;QR=24;QA=31;PBP=14;PBM=139;SP=28;TYPE=SNP;DBXREF=dbSNP:rs78433362,GnomAD_AC_exome:3413,GnomAD_AN_exome:64984,GnomAD_AC_genome:814,GnomAD_AN_genome:8818,GnomAD:0.0573;SGVEP=B4GALT2|+|NM_001005417|5|c.863+43A>G|.|intronic GT:DP:AD:DP4 0/1:19:3,7:2,1,1,6 1 44451115 106866188 AGGGGGGG AGGGGGGGGG 249 off_target VARTYPE=1;BGN=0.0382061;ARL=201;DER=12;DEA=61;QR=24;QA=58;HL=7;PBP=198;PBM=20;SP=42;TYPE=INDEL;DBXREF=dbSNP:rs61096284,GnomAD_AC_exome:14634,GnomAD_AN_exome:64984,GnomAD_AC_genome:3106,GnomAD_AN_genome:8818,GnomAD:0.2404;SGVEP=B4GALT2|+|NM_001005417|5|c.863+49_863+50dup|.|intronic GT:DP:AD:DP4 0/1:26:4,12:3,1,10,2 1 44451234 106866342 C T 1706 PASS VARTYPE=1;BGN=0.00119188;ARL=207;DER=75;DEA=92;QR=36;QA=37;PBP=910;PBM=809;TYPE=SNP;DBXREF=dbSNP:rs1061781,g1000:0.0935,esp5400:0.0883,ExAC:0.0930,GnomAD_AC_exome:23056,GnomAD_AN_exome:245696,GnomAD_AC_genome:2710,GnomAD_AN_genome:30802,GnomAD:0.0932;SGVEP=B4GALT2|+|NM_001005417|6|c.909C>T|p.(Ile303:)|synonymous GT:DP:AD:DP4 0/1:153:78,74:40,38,39,35 1 44455871 106866877 T C 284 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=252;DEA=45;QA=36;PBP=171;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs2231284,g1000:0.2861,GnomAD_AC_genome:7267,GnomAD_AN_genome:30930,GnomAD:0.2349;SGVEP=B4GALT2|+|NM_001005417|7|c.969-99T>C|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,6,4 1 44463204 106880820 C T 299 PASS VARTYPE=1;BGN=0.00171504;ARL=232;DER=54;DEA=67;QR=37;QA=35;PBP=164;PBM=141;TYPE=SNP;DBXREF=dbSNP:rs2286245,g1000:0.0591,esp5400:0.0330,ExAC:0.0480,GnomAD_AC_exome:11700,GnomAD_AN_exome:240888,GnomAD_AC_genome:1084,GnomAD_AN_genome:30892,GnomAD:0.0470;SGVEP=SLC6A9|-|NM_001024845|14|c.*13G>A|.|3'UTR GT:DP:AD:DP4 0/1:45:30,15:15,15,8,7 1 44466610 106883751 G A 828 off_target VARTYPE=1;BGN=0.00119188;ARL=230;DER=110;DEA=119;QR=37;QA=37;PBP=429;PBM=408;TYPE=SNP;DBXREF=dbSNP:rs76038188,g1000:0.0411,esp5400:0.0533,ExAC:0.0230,PhyloP:-0.7110,SIFT:0.8830,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,MutationTaster:0.0000,GERP:-1.8400,GnomAD_AC_exome:5013,GnomAD_AN_exome:238082,GnomAD_AC_genome:1408,GnomAD_AN_genome:30916,GnomAD:0.0239;SGVEP=SLC6A9|-|NM_001024845|11|c.1435+18C>T|.|intronic GT:DP:AD:DP4 0/1:89:52,37:27,25,19,18 1 44467347 106884658 C T 234 off_target VARTYPE=1;BGN=0.00142973;ARL=226;DER=41;DEA=44;QR=35;QA=36;PBP=98;PBM=142;SP=1;TYPE=SNP;DBXREF=dbSNP:rs188509294,g1000:0.0016,esp5400:0.0050,ExAC:0.0029,GnomAD_AC_exome:628,GnomAD_AN_exome:211112,GnomAD_AC_genome:111,GnomAD_AN_genome:30962,GnomAD:0.0031;SGVEP=SLC6A9|-|NM_001024845|9|c.963-48G>A|.|intronic GT:DP:AD:DP4 0/1:47:35,12:17,18,5,7 1 44467382 106884667 T A 134 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=246;DER=34;DEA=49;QR=37;QA=37;PBP=70;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs80095976,g1000:0.0667,GnomAD_AC_genome:2044,GnomAD_AN_genome:30908,GnomAD:0.0661;SGVEP=SLC6A9|-|NM_001024845|9|c.963-83A>T|.|intronic GT:DP:AD:DP4 0/1:17:11,6:5,6,3,3 1 44468423 106885442 C T 274 off_target VARTYPE=1;BGN=0.00119188;ARL=272;DER=133;DEA=117;QR=36;QA=37;PBP=113;PBM=167;TYPE=SNP;DBXREF=dbSNP:rs41270405,g1000:0.0695,GnomAD_AC_genome:2159,GnomAD_AN_genome:30878,GnomAD:0.0699;SGVEP=SLC6A9|-|NM_001024845|6|c.723+102G>A|.|intronic GT:DP:AD:DP4 0/1:29:17,12:9,8,5,7 1 44468440 106885445 C T 260 off_target VARTYPE=1;BGN=0.00119188;ARL=274;DER=122;DEA=118;QR=33;QA=37;PBP=146;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs41270407,g1000:0.0697,GnomAD_AC_genome:2108,GnomAD_AN_genome:30904,GnomAD:0.0682;SGVEP=SLC6A9|-|NM_001024845|6|c.723+85G>A|.|intronic GT:DP:AD:DP4 0/1:23:12,11:6,6,6,5 1 44476352 106888529 G T 1012 off_target VARTYPE=1;BGN=0.00119188;ARL=248;DER=46;DEA=59;QR=34;QA=37;PBP=555;PBM=466;TYPE=SNP;DBXREF=dbSNP:rs62621784,g1000:0.0355,esp5400:0.0455,ExAC:0.0210,GnomAD_AC_exome:4595,GnomAD_AN_exome:239508,GnomAD_AC_genome:1154,GnomAD_AN_genome:30882,GnomAD:0.0213;SGVEP=SLC6A9|-|NM_001024845|3|c.187+46C>A|.|intronic GT:DP:AD:DP4 0/1:75:33,42:19,14,23,19 1 44489956 106893485 G A 359 off_target VARTYPE=1;BGN=0.00142973;ARL=221;DER=87;DEA=83;QR=37;QA=36;PBP=171;PBM=195;TYPE=SNP;DBXREF=dbSNP:rs145104753,g1000:0.0062,esp5400:0.0185,ExAC:0.0160,GnomAD_AC_exome:3999,GnomAD_AN_exome:246156,GnomAD_AC_genome:543,GnomAD_AN_genome:30964,GnomAD:0.0164;SGVEP=SLC6A9|-|NM_001024845|2|c.-7C>T|.|5'UTR GT:DP:AD:DP4 0/1:47:30,17:15,15,8,9 1 45480733 107349488 C T 1515 off_target VARTYPE=1;BGN=0.00119188;ARL=247;DEA=76;QA=37;PBP=730;PBM=788;TYPE=SNP;DBXREF=dbSNP:rs6429553,g1000:0.9926,esp5400:0.9892,GnomAD_AC_genome:30642,GnomAD_AN_genome:30932,GnomAD:0.9906;SGVEP=UROD|+|NM_000374|9|c.942+55C>T|.|intronic GT:DP:AD:DP4 1/1:52:0,52:0,0,25,27 1 45796269 107473280 G C 1399 off_target VARTYPE=1;BGN=0.00119188;ARL=215;DEA=64;QA=37;PBP=642;PBM=759;TYPE=SNP;DBXREF=dbSNP:rs3219493,g1000:0.9353,esp5400:0.9258,ExAC:0.9170,clinvar:rs3219493,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:194714,GnomAD_AN_exome:210612,GnomAD_AC_genome:28976,GnomAD_AN_genome:30962,GnomAD:0.9260;SGVEP=MUTYH|-|NM_001048171|15|c.1435-40C>G|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,22,26 1 45798555 107474845 T C 2848 off_target VARTYPE=1;BGN=0.00119188;ARL=237;DEA=107;QA=37;PBP=1428;PBM=1428;TYPE=SNP;DBXREF=dbSNP:rs3219487,g1000:0.9371,esp5400:0.9288,ExAC:0.9250,clinvar:rs3219487,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:227721,GnomAD_AN_exome:245880,GnomAD_AC_genome:29023,GnomAD_AN_genome:30898,GnomAD:0.9276;SGVEP=MUTYH|-|NM_001048171|6|c.462+35A>G|.|intronic GT:DP:AD:DP4 1/1:98:0,98:0,0,49,49 1 45973928 99385 G A 1673 PASS VARTYPE=1;BGN=0.00119188;ARL=213;DER=57;DEA=72;QR=35;QA=37;PBP=862;PBM=824;TYPE=SNP;DBXREF=dbSNP:rs2275276,g1000:0.4752,esp5400:0.4173,ExAC:0.4660,clinvar:rs2275276,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:116243,GnomAD_AN_exome:246044,GnomAD_AC_genome:13410,GnomAD_AN_genome:30876,GnomAD:0.4682;SGVEP=MMACHC|+|NM_001330540|3|c.150G>A|p.(Val50:)|synonymous GT:DP:AD:DP4 0/1:110:42,68:23,19,35,33 1 46655158 99468 T C 2646 PASS VARTYPE=1;BGN=0.00119188;ARL=205;DEA=68;QA=37;PBP=1341;PBM=1312;TYPE=SNP;DBXREF=dbSNP:rs6659553,g1000:0.9425,esp5400:0.9401,ExAC:0.9840,PhyloP:1.5190,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.9200,clinvar:rs6659553,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:242181,GnomAD_AN_exome:245322,GnomAD_AC_genome:29351,GnomAD_AN_genome:30940,GnomAD:0.9829;SGVEP=POMGNT1|-|NM_001243766|21|c.1867A>G|p.(Met623Val)|missense GT:DP:AD:DP4 1/1:91:0,91:0,0,46,45 1 46658328 107898078 A G 574 off_target VARTYPE=1;BGN=0.00119188;ARL=256;DER=57;DEA=80;QR=36;QA=37;PBP=276;PBM=304;TYPE=SNP;DBXREF=dbSNP:rs2292484,g1000:0.3335,esp5400:0.3550,GnomAD_AC_genome:11012,GnomAD_AN_genome:30736,GnomAD:0.3583;SGVEP=POMGNT1|-|NM_001243766|15|c.1212-66T>C|.|intronic GT:DP:AD:DP4 0/1:37:14,23:7,7,11,12 1 46658343 107898083 G A 591 off_target VARTYPE=1;BGN=0.00142973;ARL=258;DER=50;DEA=64;QR=38;QA=36;PBP=298;PBM=298;TYPE=SNP;DBXREF=dbSNP:rs2292485,g1000:0.3335,GnomAD_AC_genome:10996,GnomAD_AN_genome:30710,GnomAD:0.3581;SGVEP=POMGNT1|-|NM_001243766|15|c.1212-81C>T|.|intronic GT:DP:AD:DP4 0/1:36:12,24:6,6,12,12 1 46659104 107899069 T C 670 off_target VARTYPE=1;BGN=0.00119188;ARL=250;DER=103;DEA=107;QR=36;QA=37;PBP=327;PBM=351;TYPE=SNP;DBXREF=dbSNP:rs7527668,g1000:0.3670,esp5400:0.3792,ExAC:0.3530,clinvar:rs7527668,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:82369,GnomAD_AN_exome:225006,GnomAD_AC_genome:12001,GnomAD_AN_genome:30818,GnomAD:0.3689;SGVEP=POMGNT1|-|NM_001243766|12|c.1027-44A>G|.|intronic GT:DP:AD:DP4 0/1:62:33,29:16,17,14,15 1 46659363 107899621 T C 489 off_target VARTYPE=1;BGN=0.00142973;ARL=252;DER=70;DEA=52;QR=38;QA=36;PBP=238;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs7527935,g1000:0.3335,esp5400:0.3511,ExAC:0.3510,GnomAD_AC_exome:85152,GnomAD_AN_exome:238982,GnomAD_AC_genome:11099,GnomAD_AN_genome:30822,GnomAD:0.3567;SGVEP=POMGNT1|-|NM_001243766|11|c.951-52A>G|.|intronic GT:DP:AD:DP4 0/1:39:18,21:8,10,10,11 1 46660295 99605 T C 398 PASS VARTYPE=1;BGN=0.000993604;ARL=245;DER=110;DEA=102;QR=33;QA=38;PBP=205;PBM=199;TYPE=SNP;DBXREF=dbSNP:rs2292487,g1000:0.3335,esp5400:0.3485,ExAC:0.3550,PhyloP:0.8440,SIFT:0.9820,MutationTaster:1.0000,GERP:3.7300,clinvar:rs2292487,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:87727,GnomAD_AN_exome:246248,GnomAD_AC_genome:11124,GnomAD_AN_genome:30856,GnomAD:0.3567;SGVEP=POMGNT1|-|NM_001243766|8|c.681A>G|p.(Lys227:)|synonymous GT:DP:AD:DP4 0/1:30:14,16:6,8,8,8 1 46743900 107968906 C T 1142 PASS VARTYPE=1;BGN=0.00119188;ARL=215;DER=91;DEA=93;QR=37;QA=37;PBP=578;PBM=575;TYPE=SNP;DBXREF=dbSNP:rs1048771,g1000:0.1857,esp5400:0.0935,ExAC:0.1550,GnomAD_AC_exome:37182,GnomAD_AN_exome:244958,GnomAD_AC_genome:3253,GnomAD_AN_genome:30884,GnomAD:0.1466;SGVEP=RAD54L|+|NM_001142548|19|c.2190C>T|p.(Ala730:)|synonymous GT:DP:AD:DP4 0/1:109:59,50:29,30,25,25 1 46870761 99686 C A 368 PASS VARTYPE=1;BGN=0.000993604;ARL=204;DER=101;DEA=85;QR=36;QA=38;PBP=186;PBM=189;TYPE=SNP;DBXREF=dbSNP:rs324420,g1000:0.2616,esp5400:0.2559,ExAC:0.2330,PhyloP:2.4170,SIFT:0.6820,PolyPhen2:0.0180,PolyPhen2_HumDiv:0.0140,LRT:0.9660,MutationTaster:0.0000,GERP:3.0800,clinvar:rs324420,CLNSIG:risk_factor,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:58089,GnomAD_AN_exome:246162,GnomAD_AC_genome:8512,GnomAD_AN_genome:30866,GnomAD:0.2404;SGVEP=FAAH|+|NM_001441|3|c.385C>A|p.(Pro129Thr)|missense GT:DP:AD:DP4 0/1:77:59,18:31,28,9,9 1 46871986 108063994 T C 2675 PASS VARTYPE=1;BGN=0.00119188;ARL=231;DEA=110;QA=37;PBP=1254;PBM=1428;TYPE=SNP;DBXREF=dbSNP:rs324419,g1000:0.8844,esp5400:0.8452,ExAC:0.8590,GnomAD_AC_exome:212948,GnomAD_AN_exome:246204,GnomAD_AC_genome:26903,GnomAD_AN_genome:30914,GnomAD:0.8655;SGVEP=FAAH|+|NM_001441|7|c.897T>C|p.(Cys299:)|synonymous GT:DP:AD:DP4 1/1:92:0,92:0,0,43,49 1 46874383 108065672 A G 241 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=286;DER=47;DEA=37;QR=37;QA=36;PBP=98;PBM=147;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2295633,g1000:0.6050,GnomAD_AC_genome:18050,GnomAD_AN_genome:30846,GnomAD:0.5852;SGVEP=FAAH|+|NM_001441|8|c.1077+127A>G|.|intronic GT:DP:AD:DP4 0/1:17:7,10:3,4,4,6 1 47685455 108439055 T C 2790 PASS VARTYPE=1;BGN=0.00119188;ARL=215;DER=103;DEA=103;QR=29;QA=37;PBP=1399;PBM=1399;TYPE=SNP;DBXREF=dbSNP:rs927462,g1000:1.0000,ExAC:1.0000,GnomAD_AC_exome:240161,GnomAD_AN_exome:240162,GnomAD_AC_genome:30952,GnomAD_AN_genome:30952,GnomAD:1.0000;SGVEP=TAL1|-|NM_001287347|5|c.933A>G|p.(Lys311:)|synonymous GT:DP:AD:DP4 1/1:96:0,96:0,0,48,48 1 47689842 108440519 C G 461 off_target VARTYPE=1;BGN=0.00171504;ARL=246;DER=42;DEA=45;QR=34;QA=35;PBP=234;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs34087210,g1000:0.3261,GnomAD_AC_genome:14736,GnomAD_AN_genome:30740,GnomAD:0.4794;SGVEP=TAL1|-|NM_001287347|4|c.447-72G>C|.|intronic GT:DP:AD:DP4 0/1:34:14,20:7,7,10,10 1 47691568 108466846 GCAGA G 603 off_target VARTYPE=1;BGN=0.000993604;ARL=235;DER=54;DEA=92;QR=35;QA=150;PBP=296;PBM=314;TYPE=INDEL;DBXREF=dbSNP:rs552099098,g1000:0.2726,ExAC:0.4390,GnomAD_AC_exome:82611,GnomAD_AN_exome:189584,GnomAD_AC_genome:12900,GnomAD_AN_genome:30514,GnomAD:0.4339;SGVEP=TAL1|-|NM_001287347|3|c.-1-11_-1-8del|.|intronic GT:DP:AD:DP4 0/1:52:27,25:12,15,12,13 1 47717189 99705 A G 396 PASS VARTYPE=1;BGN=0.00142973;ARL=246;DER=81;DEA=103;QR=37;QA=36;PBP=191;PBM=211;TYPE=SNP;DBXREF=dbSNP:rs2758735,g1000:0.3934,esp5400:0.4064,ExAC:0.4980,clinvar:rs2758735,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:123910,GnomAD_AN_exome:245940,GnomAD_AC_genome:13557,GnomAD_AN_genome:30926,GnomAD:0.4965;SGVEP=STIL|-|NM_001048166|17|c.3486T>C|p.(Pro1162:)|synonymous GT:DP:AD:DP4 0/1:55:36,19:17,19,9,10 1 47726087 99738 T C 258 PASS VARTYPE=1;BGN=0.00142973;ARL=234;DER=93;DEA=118;QR=38;QA=36;PBP=144;PBM=121;TYPE=SNP;DBXREF=dbSNP:rs13376679,g1000:0.1783,esp5400:0.2787,ExAC:0.2420,PhyloP:0.1180,SIFT:0.7520,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0010,LRT:0.0800,MutationTaster:0.0000,GERP:0.3130,clinvar:rs13376679,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:58871,GnomAD_AN_exome:246244,GnomAD_AC_genome:7662,GnomAD_AN_genome:30912,GnomAD:0.2401;SGVEP=STIL|-|NM_001048166|16|c.2954A>G|p.(His985Arg)|missense GT:DP:AD:DP4 0/1:47:34,13:17,17,7,6 1 47735280 99752 T C 181 off_target VARTYPE=1;BGN=0.000993604;ARL=230;DER=50;DEA=71;QR=36;QA=38;PBP=93;PBM=93;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2742104,g1000:0.3944,esp5400:0.4065,ExAC:0.4970,clinvar:rs2742104,CLNSIG:Likely_benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:122663,GnomAD_AN_exome:243214,GnomAD_AC_genome:13543,GnomAD_AN_genome:30898,GnomAD:0.4969;SGVEP=STIL|-|NM_001048166|14|c.2615+27A>G|.|intronic GT:DP:AD:DP4 0/1:24:16,8:8,8,4,4 1 47753405 108470409 G A 141 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=211;DER=30;DEA=15;QR=37;QA=38;PBP=73;PBM=73;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12125261,g1000:0.3017,GnomAD_AC_genome:12125,GnomAD_AN_genome:30822,GnomAD:0.3934;SGVEP=STIL|-|NM_001048166|10|c.1024-73C>T|.|intronic GT:DP:AD:DP4 0/1:16:10,6:5,5,3,3 1 47765490 108482661 T C 205 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=259;DER=29;DEA=38;QR=38;QA=35;PBP=104;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs9436838,g1000:0.6136,GnomAD_AC_genome:17634,GnomAD_AN_genome:30920,GnomAD:0.5703;SGVEP=STIL|-|NM_001048166|6|c.701+87A>G|.|intronic GT:DP:AD:DP4 1/1:10:2,8:1,1,4,4 1 47767914 99831 G A 779 PASS VARTYPE=1;BGN=0.00142973;ARL=199;DER=49;DEA=66;QR=37;QA=36;PBP=416;PBM=371;TYPE=SNP;DBXREF=dbSNP:rs3125630,g1000:0.6064,esp5400:0.5950,ExAC:0.5020,PhyloP:0.8910,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:5.4200,clinvar:rs3125630,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:122135,GnomAD_AN_exome:245976,GnomAD_AC_genome:17387,GnomAD_AN_genome:30884,GnomAD:0.5039;SGVEP=STIL|-|NM_001048166|4|c.257C>T|p.(Ala86Val)|missense GT:DP:AD:DP4 0/1:86:50,36:26,24,19,17 1 47770441 108484572 A C 230 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=257;DER=29;DEA=15;QR=36;QA=35;PBP=114;PBM=121;TYPE=SNP;DBXREF=dbSNP:rs3122615,g1000:0.6066,GnomAD_AC_genome:17392,GnomAD_AN_genome:30910,GnomAD:0.5627;SGVEP=STIL|-|NM_001048166|3|c.152+120T>G|.|intronic GT:DP:AD:DP4 0/1:18:8,10:5,3,5,5 1 47799639 108494184 G C 950 PASS VARTYPE=1;BGN=0.00119188;ARL=201;DER=80;DEA=79;QR=36;QA=37;PBP=454;PBM=505;TYPE=SNP;DBXREF=dbSNP:rs7543016,g1000:0.5964,esp5400:0.5745,ExAC:0.4430,PhyloP:0.2380,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0190,MutationTaster:0.0000,GERP:2.9100,GnomAD_AC_exome:69085,GnomAD_AN_exome:146920,GnomAD_AC_genome:16591,GnomAD_AN_genome:29576,GnomAD:0.4854;SGVEP=CMPK1|+|NM_001136140|1|c.22G>C|p.(Gly8Arg)|missense GT:DP:AD:DP4 0/1:96:54,42:27,27,20,22 1 47842431 108506622 G A 779 PASS VARTYPE=1;BGN=0.000993604;ARL=205;DEA=62;QA=38;PBP=390;PBM=390;TYPE=SNP;DBXREF=dbSNP:rs3125648,g1000:0.9537,esp5400:0.9457,ExAC:0.9850,GnomAD_AC_exome:235873,GnomAD_AN_exome:238788,GnomAD_AC_genome:29532,GnomAD_AN_genome:30968,GnomAD:0.9839;SGVEP=CMPK1|+|NM_001136140|5|c.*14G>A|.|3'UTR GT:DP:AD:DP4 1/1:26:0,26:0,0,13,13 1 47882497 99844 C T 992 PASS VARTYPE=1;BGN=0.00142973;ARL=231;DER=103;DEA=107;QR=36;QA=36;PBP=489;PBM=511;TYPE=SNP;DBXREF=dbSNP:rs34082359,g1000:0.2786,esp5400:0.3082,ExAC:0.3120,clinvar:rs34082359,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:62896,GnomAD_AN_exome:180824,GnomAD_AC_genome:8510,GnomAD_AN_genome:28536,GnomAD:0.3411;SGVEP=FOXE3|+|NM_012186|1|c.510C>T|p.(Ala170:)|synonymous GT:DP:AD:DP4 0/1:64:23,41:11,12,20,21 1 47883019 108539953 T C 496 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=228;DEA=53;QA=37;PBP=175;PBM=321;TYPE=SNP;DBXREF=dbSNP:rs6666370,g1000:0.7969,GnomAD_AC_genome:25944,GnomAD_AN_genome:30636,GnomAD:0.8468;SGVEP=FOXE3|+|NM_012186|1|c.*72T>C|.|3'UTR GT:DP:AD:DP4 1/1:17:0,17:0,0,6,11 1 47883024 108539974 A G 442 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=228;DEA=48;QA=35;PBP=138;PBM=304;TYPE=SNP;DBXREF=dbSNP:rs2820969,g1000:0.9948,GnomAD_AC_genome:30570,GnomAD_AN_genome:30682,GnomAD:0.9963;SGVEP=FOXE3|+|NM_012186|1|c.*77A>G|.|3'UTR GT:DP:AD:DP4 1/1:16:0,16:0,0,5,11 1 53453640 110605608 A G 232 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=266;DER=125;DEA=61;QR=31;QA=36;PBP=134;PBM=102;TYPE=SNP;DBXREF=dbSNP:rs7528565,g1000:0.3958,GnomAD_AC_genome:9412,GnomAD_AN_genome:30942,GnomAD:0.3042;SGVEP=SCP2|+|NM_001007098|10|c.842-61A>G|.|intronic GT:DP:AD:DP4 0/1:12:3,9:1,2,5,4 1 53453683 110605648 C T 529 off_target VARTYPE=1;BGN=0.00142973;ARL=234;DER=56;DEA=60;QR=37;QA=36;PBP=268;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs7516939,g1000:0.4022,esp5400:0.3133,ExAC:0.2200,GnomAD_AC_exome:53182,GnomAD_AN_exome:245036,GnomAD_AC_genome:9602,GnomAD_AN_genome:30912,GnomAD:0.2275;SGVEP=SCP2|+|NM_001007098|10|c.842-18C>T|.|intronic GT:DP:AD:DP4 0/1:36:14,22:7,7,11,11 1 53480745 110614414 G A 737 off_target VARTYPE=1;BGN=0.000993604;ARL=224;DER=42;DEA=64;QR=37;QA=38;PBP=371;PBM=374;TYPE=SNP;DBXREF=dbSNP:rs7529265,g1000:0.2077,esp5400:0.1290,ExAC:0.1280,GnomAD_AC_exome:33236,GnomAD_AN_exome:246114,GnomAD_AC_genome:4069,GnomAD_AN_genome:30944,GnomAD:0.1346;SGVEP=SCP2|+|NM_001007099|1|c.23+30G>A|.|intronic GT:DP:AD:DP4 0/1:57:27,30:14,13,15,15 1 53493625 110619489 A G 727 off_target VARTYPE=1;BGN=0.000993604;ARL=219;DER=67;DEA=34;QR=37;QA=38;PBP=365;PBM=369;TYPE=SNP;DBXREF=dbSNP:rs17107640,g1000:0.2015,esp5400:0.1220,ExAC:0.1260,GnomAD_AC_exome:32621,GnomAD_AN_exome:244492,GnomAD_AC_genome:3907,GnomAD_AN_genome:30960,GnomAD:0.1326;SGVEP=SCP2|+|NM_001007099|2|c.24-16A>G|.|intronic GT:DP:AD:DP4 0/1:43:15,28:8,7,14,14 1 53493822 110619654 G T 219 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=246;DER=35;DEA=48;QR=34;QA=37;PBP=125;PBM=98;SP=0;TYPE=SNP;DBXREF=dbSNP:rs17107643,g1000:0.2015,GnomAD_AC_genome:3909,GnomAD_AN_genome:30952,GnomAD:0.1263;SGVEP=SCP2|+|NM_001007099|2|c.126+79G>T|.|intronic GT:DP:AD:DP4 0/1:17:8,9:4,4,5,4 1 53662823 110667009 C A 632 off_target VARTYPE=1;BGN=0.00171504;ARL=229;DER=50;DEA=41;QR=37;QA=35;PBP=306;PBM=332;TYPE=SNP;DBXREF=dbSNP:rs72673121,g1000:0.0889,GnomAD_AC_genome:4200,GnomAD_AN_genome:30852,GnomAD:0.1361;SGVEP=CPT2|+|NM_000098|1|c.152+56C>A|.|intronic GT:DP:AD:DP4 0/1:43:16,27:8,8,13,14 1 53676448 100016 G A 812 PASS VARTYPE=1;BGN=0.00119188;ARL=220;DER=101;DEA=97;QR=36;QA=37;PBP=426;PBM=396;TYPE=SNP;DBXREF=dbSNP:rs1799821,g1000:0.4131,esp5400:0.4557,ExAC:0.4830,PhyloP:0.0380,SIFT:0.0000,PolyPhen2:0.0040,PolyPhen2_HumDiv:0.0110,LRT:0.9970,MutationTaster:0.0010,GERP:-0.2610,clinvar:rs1799821,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:119762,GnomAD_AN_exome:245950,GnomAD_AC_genome:14548,GnomAD_AN_genome:30906,GnomAD:0.4851;SGVEP=CPT2|+|NM_000098|4|c.1102G>A|p.(Val368Ile)|missense GT:DP:AD:DP4 0/1:125:86,39:41,45,20,19 1 53679229 100094 A G 212 PASS VARTYPE=1;BGN=0.000993604;ARL=208;DER=84;DEA=50;QR=36;QA=38;PBP=109;PBM=108;TYPE=SNP;DBXREF=dbSNP:rs1799822,g1000:0.1004,esp5400:0.1667,ExAC:0.1620,PhyloP:2.2510,SIFT:0.9790,PolyPhen2:0.0090,PolyPhen2_HumDiv:0.0020,LRT:1.0000,MutationTaster:0.9980,GERP:5.9000,clinvar:rs1799822,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:40222,GnomAD_AN_exome:245618,GnomAD_AC_genome:4452,GnomAD_AN_genome:30952,GnomAD:0.1615;SGVEP=CPT2|+|NM_000098|5|c.1939A>G|p.(Met647Val)|missense GT:DP:AD:DP4 0/1:39:29,10:14,15,5,5 1 53712727 100099 C T 216 PASS VARTYPE=1;BGN=0.000993604;ARL=201;DER=82;DEA=75;QR=38;QA=38;PBP=111;PBM=111;TYPE=SNP;DBXREF=dbSNP:rs5174,g1000:0.1444,esp5400:0.2901,ExAC:0.2940,PhyloP:2.5500,SIFT:0.9610,PolyPhen2:0.9960,PolyPhen2_HumDiv:1.0000,MutationTaster:1.0000,GERP:5.4300,clinvar:rs5174,CLNSIG:risk_factor,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:66164,GnomAD_AN_exome:225012,GnomAD_AC_genome:8842,GnomAD_AN_genome:30898,GnomAD:0.2931;SGVEP=LRP8|-|NM_001018054|18|c.2678G>A|p.(Arg893Gln)|missense GT:DP:AD:DP4 0/1:36:26,10:13,13,5,5 1 53716416 110689322 G A 969 PASS VARTYPE=1;BGN=0.00119188;ARL=226;DER=83;DEA=99;QR=36;QA=37;PBP=473;PBM=505;TYPE=SNP;DBXREF=dbSNP:rs3737983,g1000:0.3708,esp5400:0.3642,ExAC:0.4010,GnomAD_AC_exome:99285,GnomAD_AN_exome:246168,GnomAD_AC_genome:12356,GnomAD_AN_genome:30858,GnomAD:0.4030;SGVEP=LRP8|-|NM_001018054|17|c.2622C>T|p.(Asp874:)|synonymous GT:DP:AD:DP4 0/1:79:38,41:20,18,20,21 1 53723190 110691954 G T 525 off_target VARTYPE=1;BGN=0.00119188;ARL=253;DER=62;DEA=46;QR=34;QA=37;PBP=240;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs869987,g1000:0.3856,GnomAD_AC_genome:12497,GnomAD_AN_genome:30866,GnomAD:0.4049;SGVEP=LRP8|-|NM_001018054|15|c.2210-54C>A|.|intronic GT:DP:AD:DP4 0/1:42:20,22:10,10,10,12 1 53732315 110696451 G T 806 PASS VARTYPE=1;BGN=0.00142973;ARL=232;DER=64;DEA=76;QR=37;QA=36;PBP=371;PBM=443;TYPE=SNP;DBXREF=dbSNP:rs2297660,g1000:0.3353,esp5400:0.3451,ExAC:0.3790,PhyloP:2.5500,MutationTaster:1.0000,GERP:4.9100,GnomAD_AC_exome:94121,GnomAD_AN_exome:246030,GnomAD_AC_genome:11526,GnomAD_AN_genome:30894,GnomAD:0.3815;SGVEP=LRP8|-|NM_001018054|9|c.1257C>A|p.(Gly419:)|synonymous GT:DP:AD:DP4 0/1:86:49,37:24,25,17,20 1 53736613 110697810 A G 261 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=231;DER=25;DEA=23;QR=38;QA=38;PBP=161;PBM=105;TYPE=SNP;DBXREF=dbSNP:rs7542607,g1000:0.3353,GnomAD_AC_genome:11552,GnomAD_AN_genome:30896,GnomAD:0.3739;SGVEP=LRP8|-|NM_001018054|8|c.1252+87T>C|.|intronic GT:DP:AD:DP4 0/1:16:6,10:3,3,6,4 1 55318108 111400971 C T 994 off_target VARTYPE=1;BGN=0.00142973;ARL=243;DEA=48;QA=36;PBP=483;PBM=512;TYPE=SNP;DBXREF=dbSNP:rs667222,g1000:0.3726,esp5400:0.3384,ExAC:0.3350,GnomAD_AC_exome:81406,GnomAD_AN_exome:240978,GnomAD_AC_genome:10185,GnomAD_AN_genome:30932,GnomAD:0.3368;SGVEP=DHCR24|-|NM_014762|9|c.1398-49G>A|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,17,18 1 55319008 111401265 T C 600 off_target VARTYPE=1;BGN=0.000993604;ARL=257;DEA=55;QA=38;PBP=360;PBM=240;TYPE=SNP;DBXREF=dbSNP:rs631749,g1000:0.4331,GnomAD_AC_genome:11956,GnomAD_AN_genome:30840,GnomAD:0.3877;SGVEP=DHCR24|-|NM_014762|8|c.1397+99A>G|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,12,8 1 55330966 111405138 T C 2270 off_target VARTYPE=1;BGN=0.00119188;ARL=217;DEA=70;QA=37;PBP=1225;PBM=1050;TYPE=SNP;DBXREF=dbSNP:rs611057,g1000:0.9886,esp5400:0.9877,ExAC:0.9970,clinvar:rs611057,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:240312,GnomAD_AN_exome:240870,GnomAD_AC_genome:30695,GnomAD_AN_genome:30938,GnomAD:0.9971;SGVEP=DHCR24|-|NM_014762|6|c.1020+10A>G|.|intronic GT:DP:AD:DP4 1/1:78:0,78:0,0,42,36 1 55464743 111445891 T C 103 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=231;DER=28;DEA=24;QR=38;QA=36;PBP=40;PBM=68;SP=2;TYPE=SNP;DBXREF=dbSNP:rs2500340,g1000:0.5940,clinvar:rs2500340,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:20350,GnomAD_AN_genome:30860,GnomAD:0.6594;SGVEP=BSND|+|NM_057176|1|c.-117T>C|.|5'UTR GT:DP:AD:DP4 0/1:18:13,5:8,5,2,3 1 55464790 111445907 C G 189 off_target VARTYPE=1;BGN=0.000993604;ARL=221;DER=48;DEA=52;QR=36;QA=38;PBP=84;PBM=111;SP=1;TYPE=SNP;DBXREF=dbSNP:rs2500341,g1000:0.5950,clinvar:rs2500341,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:20359,GnomAD_AN_genome:30840,GnomAD:0.6601;SGVEP=BSND|+|NM_057176|1|c.-70C>G|.|5'UTR GT:DP:AD:DP4 0/1:37:28,9:15,13,4,5 1 55470811 111447410 G A 955 off_target VARTYPE=1;BGN=0.00119188;ARL=227;DER=61;DEA=74;QR=36;QA=37;PBP=431;PBM=534;TYPE=SNP;DBXREF=dbSNP:rs41297877,g1000:0.0208,esp5400:0.0515,ExAC:0.0520,GnomAD_AC_exome:12082,GnomAD_AN_exome:244200,GnomAD_AC_genome:1532,GnomAD_AN_genome:30952,GnomAD:0.0495;SGVEP=BSND|+|NM_057176|2|c.272+22G>A|.|intronic GT:DP:AD:DP4 0/1:94:52,42:26,26,19,23 1 55474262 100223 G A 539 PASS VARTYPE=1;BGN=0.00142973;ARL=228;DER=89;DEA=108;QR=37;QA=36;PBP=288;PBM=260;TYPE=SNP;DBXREF=dbSNP:rs33938617,g1000:0.1160,esp5400:0.1982,ExAC:0.1580,clinvar:rs33938617,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:37341,GnomAD_AN_exome:245630,GnomAD_AC_genome:5742,GnomAD_AN_genome:30866,GnomAD:0.1558;SGVEP=BSND|+|NM_057176|4|c.924G>A|p.(Pro308:)|synonymous GT:DP:AD:DP4 0/1:90:63,27:30,33,14,13 1 55474325 111448554 A C 1922 off_target VARTYPE=1;BGN=0.00119188;ARL=224;DEA=55;QA=37;PBP=963;PBM=963;TYPE=SNP;DBXREF=dbSNP:rs6682884,g1000:0.3624,esp5400:0.4485,ExAC:0.3750,clinvar:rs6682884,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:89057,GnomAD_AN_exome:243428,GnomAD_AC_genome:13356,GnomAD_AN_genome:30824,GnomAD:0.3734;SGVEP=BSND|+|NM_057176|4|c.*24A>C|.|3'UTR GT:DP:AD:DP4 1/1:66:0,66:0,0,33,33 1 55505447 100232 C T 224 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=272;DER=36;DEA=46;QR=37;QA=38;PBP=142;PBM=84;SP=0;TYPE=SNP;DBXREF=dbSNP:rs45448095,g1000:0.0938,clinvar:rs45448095,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_genome:2805,GnomAD_AN_genome:30946,GnomAD:0.0906;SGVEP=PCSK9|+|NM_174936|1|c.-64C>T|.|5'UTR GT:DP:AD:DP4 1/1:10:2,8:1,1,5,3 1 55505552 100235 A ACTG 1080 PASS VARTYPE=1;BGN=0.000993604;ARL=218;DER=47;DEA=78;QR=36;QA=111;PBP=566;PBM=525;TYPE=INDEL;DBXREF=dbSNP:rs113330492,ExAC:0.0770,clinvar:rs35574083,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:18733,GnomAD_AN_exome:154680,GnomAD_AC_genome:4446,GnomAD_AN_genome:30828,GnomAD:0.1249;SGVEP=PCSK9|+|NM_174936|1|c.63_65dup|p.(Leu23dup)|inframe_3 GT:DP:AD:DP4 0/1:103:56,46:31,25,24,22 1 55505668 100241 C T 1781 PASS VARTYPE=1;BGN=0.00142973;ARL=212;DER=102;DEA=95;QR=36;QA=36;PBP=844;PBM=953;TYPE=SNP;DBXREF=dbSNP:rs11583680,g1000:0.0913,esp5400:0.0964,ExAC:0.0940,PhyloP:0.4780,SIFT:0.7190,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.4650,MutationTaster:0.0000,GERP:2.2300,clinvar:rs11583680,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:21169,GnomAD_AN_exome:185590,GnomAD_AC_genome:2721,GnomAD_AN_genome:30966,GnomAD:0.1103;SGVEP=PCSK9|+|NM_174936|1|c.158C>T|p.(Ala53Val)|missense GT:DP:AD:DP4 0/1:186:104,82:54,50,39,43 1 55505732 111459994 A G 10000 off_target VARTYPE=1;BGN=0.00119188;ARL=224;DER=54;DEA=77;QR=34;QA=37;PBP=1643;PBM=1788;TYPE=SNP;DBXREF=dbSNP:rs2495482,g1000:0.9085,esp5400:0.9105,ExAC:0.9110,clinvar:rs2495482,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:140979,GnomAD_AN_exome:151904,GnomAD_AC_genome:28267,GnomAD_AN_genome:30966,GnomAD:0.9255;SGVEP=PCSK9|+|NM_174936|1|c.207+15A>G|.|intronic GT:DP:AD:DP4 1/1:121:2,119:1,1,57,62 1 55505861 111460059 G A 129 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=283;DER=46;DEA=76;QR=28;QA=38;PBP=55;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2479410,g1000:0.2450,GnomAD_AC_genome:8656,GnomAD_AN_genome:30906,GnomAD:0.2801;SGVEP=PCSK9|+|NM_174936|1|c.207+144G>A|.|intronic GT:DP:AD:DP4 0/1:9:4,5:1,3,2,3 1 55517861 111464252 C G 406 off_target VARTYPE=1;BGN=0.00142973;ARL=255;DER=43;DEA=40;QR=35;QA=36;PBP=215;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs613855,g1000:0.4888,GnomAD_AC_genome:12884,GnomAD_AN_genome:30826,GnomAD:0.4180;SGVEP=PCSK9|+|NM_174936|4|c.524-90C>G|.|intronic GT:DP:AD:DP4 0/1:29:12,17:7,5,9,8 1 55517883 111464269 C G 470 off_target VARTYPE=1;BGN=0.00119188;ARL=249;DER=46;DEA=57;QR=35;QA=37;PBP=237;PBM=240;TYPE=SNP;DBXREF=dbSNP:rs624612,g1000:0.4213,GnomAD_AC_genome:10724,GnomAD_AN_genome:30850,GnomAD:0.3476;SGVEP=PCSK9|+|NM_174936|4|c.524-68C>G|.|intronic GT:DP:AD:DP4 0/1:41:21,20:11,10,10,10 1 55518166 111464564 G A 1305 off_target VARTYPE=1;BGN=0.00142973;ARL=258;DEA=68;QA=36;PBP=597;PBM=710;TYPE=SNP;DBXREF=dbSNP:rs625619,g1000:0.5493,clinvar:rs625619,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:15217,GnomAD_AN_genome:30712,GnomAD:0.4955;SGVEP=PCSK9|+|NM_174936|4|c.657+82G>A|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,21,25 1 55518198 111464611 C A 367 off_target VARTYPE=1;BGN=0.00142973;ARL=270;DER=129;DEA=89;QR=34;QA=36;PBP=138;PBM=235;TYPE=SNP;DBXREF=dbSNP:rs7552350,g1000:0.1386,clinvar:rs7552350,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:4712,GnomAD_AN_genome:30650,GnomAD:0.1537;SGVEP=PCSK9|+|NM_174936|4|c.657+114C>A|.|intronic GT:DP:AD:DP4 0/1:32:16,16:7,9,6,10 1 55518316 100268 C T 1192 off_target VARTYPE=1;BGN=0.00142973;ARL=214;DER=61;DEA=61;QR=37;QA=36;PBP=687;PBM=516;TYPE=SNP;DBXREF=dbSNP:rs2483205,g1000:0.3942,esp5400:0.4578,ExAC:0.4250,clinvar:rs2483205,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:102410,GnomAD_AN_exome:244152,GnomAD_AC_genome:13786,GnomAD_AN_genome:30862,GnomAD:0.4225;SGVEP=PCSK9|+|NM_174936|5|c.658-7C>T|.|intronic GT:DP:AD:DP4 0/1:128:73,55:37,36,31,24 1 55518528 111464990 C A 1645 off_target VARTYPE=1;BGN=0.00142973;ARL=233;DEA=47;QA=36;PBP=767;PBM=880;TYPE=SNP;DBXREF=dbSNP:rs494198,g1000:0.6292,clinvar:rs494198,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:18438,GnomAD_AN_genome:30822,GnomAD:0.5982;SGVEP=PCSK9|+|NM_174936|5|c.799+64C>A|.|intronic GT:DP:AD:DP4 1/1:58:0,58:0,0,27,31 1 55521899 111466213 GGGGCGGA G 685 off_target VARTYPE=1;BGN=0.000993604;ARL=226;DER=48;DEA=74;QR=36;QA=260;PBP=351;PBM=346;TYPE=INDEL;DBXREF=dbSNP:rs869193941,g1000:0.9928,ExAC:0.3920,GnomAD_AC_exome:6238,GnomAD_AN_exome:8628,GnomAD_AC_genome:22623,GnomAD_AN_genome:25602,GnomAD:0.8431;SGVEP=PCSK9|+|NM_174936|6|c.996+55_996+61del|.|intronic GT:DP:AD:DP4 0/1:38:11,26:5,6,13,13 1 55523033 111466733 A G 1515 PASS VARTYPE=1;BGN=0.00119188;ARL=220;DEA=79;QA=37;PBP=759;PBM=759;TYPE=SNP;DBXREF=dbSNP:rs509504,g1000:0.9818,esp5400:0.9777,ExAC:0.9950,clinvar:rs509504,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:244981,GnomAD_AN_exome:246014,GnomAD_AC_genome:30412,GnomAD_AN_genome:30940,GnomAD:0.9944;SGVEP=PCSK9|+|NM_174936|7|c.1026A>G|p.(Gln342:)|synonymous GT:DP:AD:DP4 1/1:52:0,52:0,0,26,26 1 55523984 111467379 C T 600 off_target VARTYPE=1;BGN=0.000993604;ARL=271;DEA=60;QA=38;PBP=300;PBM=300;TYPE=SNP;DBXREF=dbSNP:rs584626,g1000:0.8630,GnomAD_AC_genome:25520,GnomAD_AN_genome:30912,GnomAD:0.8256;SGVEP=PCSK9|+|NM_174936|8|c.1354+102C>T|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 1 55524116 111467422 C T 671 off_target VARTYPE=1;BGN=0.00119188;ARL=260;DEA=54;QA=37;PBP=351;PBM=321;NVF=0.98;TYPE=SNP;DBXREF=dbSNP:rs585131,g1000:0.8692,clinvar:rs585131,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:25686,GnomAD_AN_genome:30900,GnomAD:0.8313;SGVEP=PCSK9|+|NM_174936|9|c.1355-56C>T|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,12,11 1 55524197 100284 A G 2617 PASS VARTYPE=1;BGN=0.00119188;ARL=223;DEA=72;QA=37;PBP=1312;PBM=1312;NVF=0.99;TYPE=SNP;DBXREF=dbSNP:rs540796,g1000:0.8692,esp5400:0.8173,ExAC:0.8540,PhyloP:0.8610,SIFT:0.8680,MutationTaster:1.0000,GERP:4.4700,clinvar:rs540796,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:210807,GnomAD_AN_exome:246154,GnomAD_AC_genome:25650,GnomAD_AN_genome:30844,GnomAD:0.8536;SGVEP=PCSK9|+|NM_174936|9|c.1380A>G|p.(Val460:)|synonymous GT:DP:AD:DP4 1/1:90:0,90:0,0,45,45 1 55524237 100289 G A 10000 PASS VARTYPE=1;BGN=0.00142973;ARL=211;DEA=84;QA=36;PBP=1814;PBM=1758;NVF=0.99;TYPE=SNP;DBXREF=dbSNP:rs562556,g1000:0.8690,esp5400:0.8173,ExAC:0.8540,PhyloP:-2.2140,SIFT:0.5880,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0130,LRT:0.0040,MutationTaster:0.0000,GERP:-8.9500,clinvar:rs562556,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:210753,GnomAD_AN_exome:246098,GnomAD_AC_genome:25653,GnomAD_AN_genome:30852,GnomAD:0.8536;SGVEP=PCSK9|+|NM_174936|9|c.1420G>A|p.(Val474Ile)|missense GT:DP:AD:DP4 1/1:126:0,126:0,0,64,62 1 55524339 111467702 CGTGTGTGTGTGTGT C 232 off_target VARTYPE=1;BGN=0.000993604;ARL=220;DER=45;DEA=121;QR=36;QA=513;PBP=120;PBM=118;NVF=0.57;TYPE=INDEL;DBXREF=dbSNP:rs771257845,g1000:0.9115,ExAC:0.1830,GnomAD_AC_exome:41259,GnomAD_AN_exome:141496,GnomAD_AC_genome:16114,GnomAD_AN_genome:24716,GnomAD:0.3452;SGVEP=PCSK9|+|NM_174936|9|c.1503+58_1503+71del|.|intronic GT:DP:AD:DP4 0/1:68:42,12:21,21,6,6 1 55524339 111467712 CGTGTGTGTGTGTGTGTGT C 186 off_target VARTYPE=1;BGN=0.000993604;ARL=220;DER=45;DEA=87;QR=36;QA=655;PBP=74;PBM=118;SP=1;NVF=0.41;TYPE=INDEL;DBXREF=dbSNP:rs775704112,ExAC:0.0280,GnomAD_AC_exome:5022,GnomAD_AN_exome:141496,GnomAD_AC_genome:1799,GnomAD_AN_genome:24716,GnomAD:0.0410;SGVEP=PCSK9|+|NM_174936|9|c.1503+54_1503+71del|.|intronic GT:DP:AD:DP4 0/1:68:42,10:21,21,4,6 1 55524387 100294 T C 788 off_target VARTYPE=1;BGN=0.00119188;ARL=240;DEA=74;QA=37;PBP=351;PBM=438;NVF=0.97;TYPE=SNP;DBXREF=dbSNP:rs563641,g1000:0.8686,clinvar:rs563641,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:24880,GnomAD_AN_genome:29978,GnomAD:0.8299;SGVEP=PCSK9|+|NM_174936|9|c.1503+67T>C|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,12,15 1 55525400 111468238 G A 656 off_target VARTYPE=1;BGN=0.00119188;ARL=243;DER=54;DEA=33;QR=36;QA=37;PBP=281;PBM=383;TYPE=SNP;DBXREF=dbSNP:rs483462,g1000:0.6743,clinvar:rs483462,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:19323,GnomAD_AN_genome:30888,GnomAD:0.6256;SGVEP=PCSK9|+|NM_174936|10|c.1681+64G>A|.|intronic GT:DP:AD:DP4 0/1:57:29,28:14,15,12,16 1 55527323 111469077 G A 198 low_coverage;off_target VARTYPE=1;BGN=0.00205729;ARL=272;DER=36;DEA=58;QR=31;QA=34;PBP=68;PBM=135;SP=0;TYPE=SNP;DBXREF=dbSNP:rs630431,g1000:0.6745,GnomAD_AC_genome:19335,GnomAD_AN_genome:30844,GnomAD:0.6269;SGVEP=PCSK9|+|NM_174936|11|c.1863+94G>A|.|intronic GT:DP:AD:DP4 0/1:17:8,9:3,5,3,6 1 55529187 100304 G A 1732 PASS VARTYPE=1;BGN=0.00142973;ARL=218;DER=110;DEA=104;QR=36;QA=36;PBP=900;PBM=846;TYPE=SNP;DBXREF=dbSNP:rs505151,g1000:0.8990,esp5400:0.8883,ExAC:0.9430,PhyloP:-0.2440,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.8310,MutationTaster:0.0000,GERP:0.3480,clinvar:rs505151,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:232627,GnomAD_AN_exome:245358,GnomAD_AC_genome:27587,GnomAD_AN_genome:30894,GnomAD:0.9419;SGVEP=PCSK9|+|NM_174936|12|c.2009G>A|p.(Gly670Glu)|missense GT:DP:AD:DP4 0/1:163:85,78:42,43,40,38 1 57349407 112107877 A T 183 off_target VARTYPE=1;BGN=0.000993604;ARL=251;DER=78;DEA=76;QR=37;QA=38;PBP=95;PBM=93;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6694643,g1000:0.2111,GnomAD_AC_genome:4757,GnomAD_AN_genome:30932,GnomAD:0.1538;SGVEP=C8A|+|NM_000562|6|c.855+53A>T|.|intronic GT:DP:AD:DP4 0/1:23:15,8:7,8,4,4 1 57372591 112115485 C T 261 low_coverage;off_target VARTYPE=1;BGN=0.00246784;ARL=258;DEA=20;QA=33;PBP=130;PBM=130;TYPE=SNP;DBXREF=dbSNP:rs619545,g1000:0.8638,GnomAD_AC_genome:24600,GnomAD_AN_genome:30920,GnomAD:0.7956;SGVEP=C8A|+|NM_000562|8|c.1222+126C>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 57378149 112117857 G T 1363 PASS VARTYPE=1;BGN=0.00142973;ARL=223;DER=101;DEA=105;QR=36;QA=36;PBP=712;PBM=662;TYPE=SNP;DBXREF=dbSNP:rs1620075,g1000:0.1362,esp5400:0.0968,ExAC:0.0770,PhyloP:-0.3310,SIFT:0.9910,PolyPhen2:0.6260,PolyPhen2_HumDiv:0.8620,LRT:1.0000,MutationTaster:0.0000,GERP:0.6960,clinvar:rs1620075,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:18591,GnomAD_AN_exome:246070,GnomAD_AC_genome:2969,GnomAD_AN_genome:30934,GnomAD:0.0778;SGVEP=C8A|+|NM_000562|10|c.1454G>T|p.(Arg485Leu)|missense GT:DP:AD:DP4 0/1:136:74,62:37,37,32,30 1 57378150 112117866 C T 1281 PASS VARTYPE=1;BGN=0.00119188;ARL=222;DER=102;DEA=100;QR=37;QA=37;PBP=660;PBM=632;TYPE=SNP;DBXREF=dbSNP:rs1620073,g1000:0.1364,esp5400:0.0970,ExAC:0.0770,clinvar:rs1620073,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:18613,GnomAD_AN_exome:246080,GnomAD_AC_genome:2970,GnomAD_AN_genome:30942,GnomAD:0.0779;SGVEP=C8A|+|NM_000562|10|c.1455C>T|p.(Arg485:)|synonymous GT:DP:AD:DP4 0/1:132:75,57:37,38,29,28 1 57378198 112117933 T C 1606 PASS VARTYPE=1;BGN=0.000993604;ARL=224;DER=105;DEA=103;QR=36;QA=38;PBP=805;PBM=816;TYPE=SNP;DBXREF=dbSNP:rs1754533,g1000:0.1366,esp5400:0.1036,ExAC:0.0770,clinvar:rs1754533,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:18610,GnomAD_AN_exome:246232,GnomAD_AC_genome:2983,GnomAD_AN_genome:30946,GnomAD:0.0779;SGVEP=C8A|+|NM_000562|10|c.1503T>C|p.(Pro501:)|synonymous GT:DP:AD:DP4 0/1:157:88,69:41,47,34,35 1 57378334 112118123 T G 734 off_target VARTYPE=1;BGN=0.00119188;ARL=226;DER=63;DEA=53;QR=35;QA=37;PBP=307;PBM=436;TYPE=SNP;DBXREF=dbSNP:rs1754534,g1000:0.1362,esp5400:0.1025,ExAC:0.0770,GnomAD_AC_exome:18264,GnomAD_AN_exome:241828,GnomAD_AC_genome:2981,GnomAD_AN_genome:30924,GnomAD:0.0779;SGVEP=C8A|+|NM_000562|10|c.1603+36T>G|.|intronic GT:DP:AD:DP4 0/1:60:29,31:14,15,13,18 1 57378413 112118156 T C 380 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=256;DEA=21;QA=37;PBP=146;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs623077,g1000:0.9193,GnomAD_AC_genome:27415,GnomAD_AN_genome:30934,GnomAD:0.8862;SGVEP=C8A|+|NM_000562|10|c.1603+115T>C|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,5,8 1 57383315 112119450 G C 804 PASS VARTYPE=1;BGN=0.000993604;ARL=210;DER=88;DEA=92;QR=37;QA=38;PBP=444;PBM=370;TYPE=SNP;DBXREF=dbSNP:rs1342440,g1000:0.1364,esp5400:0.1037,ExAC:0.0770,PhyloP:1.1990,SIFT:0.4550,PolyPhen2:0.0380,PolyPhen2_HumDiv:0.0630,LRT:0.8870,MutationTaster:0.0030,GERP:2.7300,clinvar:rs1342440,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:18583,GnomAD_AN_exome:246022,GnomAD_AC_genome:2971,GnomAD_AN_genome:30944,GnomAD:0.0778;SGVEP=C8A|+|NM_000562|11|c.1681G>C|p.(Glu561Gln)|missense GT:DP:AD:DP4 0/1:87:52,35:27,25,19,16 1 57383358 112119519 C T 1187 PASS VARTYPE=1;BGN=0.00119188;ARL=210;DER=88;DEA=82;QR=36;QA=37;PBP=608;PBM=589;TYPE=SNP;DBXREF=dbSNP:rs17300936,g1000:0.0613,esp5400:0.0961,ExAC:0.0960,PhyloP:0.6110,SIFT:0.0360,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:0.9960,MutationTaster:0.0000,GERP:1.6300,GnomAD_AC_exome:22977,GnomAD_AN_exome:245800,GnomAD_AC_genome:2819,GnomAD_AN_genome:30936,GnomAD:0.0932;SGVEP=C8A|+|NM_000562|11|c.1724C>T|p.(Pro575Leu)|missense GT:DP:AD:DP4 0/1:85:36,49:19,17,25,24 1 57395020 112122070 A G 145 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=219;DER=45;DEA=15;QR=36;QA=38;PBP=75;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2795,g1000:0.3672,GnomAD_AC_genome:9841,GnomAD_AN_genome:30924,GnomAD:0.3182;SGVEP=C8B|-|NM_000066|12|c.*57T>C|.|3'UTR GT:DP:AD:DP4 0/1:14:8,6:4,4,3,3 1 57395251 112122315 T C 959 off_target VARTYPE=1;BGN=0.000993604;ARL=231;DEA=54;QA=38;PBP=450;PBM=510;TYPE=SNP;DBXREF=dbSNP:rs605648,g1000:0.8804,esp5400:0.8304,ExAC:0.8820,GnomAD_AC_exome:215603,GnomAD_AN_exome:243118,GnomAD_AC_genome:26285,GnomAD_AN_genome:30938,GnomAD:0.8826;SGVEP=C8B|-|NM_000066|12|c.1622-20A>G|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,15,17 1 57415200 112134444 C T 496 off_target VARTYPE=1;BGN=0.00119188;ARL=240;DER=70;DEA=64;QR=36;QA=37;PBP=266;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs706481,g1000:0.0827,esp5400:0.0860,ExAC:0.0540,GnomAD_AC_exome:12638,GnomAD_AN_exome:244774,GnomAD_AC_genome:2518,GnomAD_AN_genome:30916,GnomAD:0.0550;SGVEP=C8B|-|NM_000066|6|c.864+28G>A|.|intronic GT:DP:AD:DP4 0/1:42:21,21:10,11,11,10 1 57417633 112134896 G GGGATGTGTCCAAGGTCACACA 360 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=289;DEA=72;QA=747;PBP=210;PBM=150;NVF=0.92;TYPE=INDEL;DBXREF=dbSNP:rs138791380,g1000:0.6452,GnomAD_AC_genome:20834,GnomAD_AN_genome:30800,GnomAD:0.6764;SGVEP=C8B|-|NM_000066|5|c.666+87_666+88ins21|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,7,5 1 57422484 112136065 C T 1399 PASS VARTYPE=1;BGN=0.00119188;ARL=231;DEA=73;QA=37;PBP=701;PBM=701;TYPE=SNP;DBXREF=dbSNP:rs1013579,g1000:0.9864,esp5400:0.9755,ExAC:0.9770,PhyloP:-0.1390,SIFT:0.1020,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9930,MutationTaster:0.0000,GERP:-0.1650,GnomAD_AC_exome:240579,GnomAD_AN_exome:246134,GnomAD_AC_genome:30309,GnomAD_AN_genome:30976,GnomAD:0.9775;SGVEP=C8B|-|NM_000066|3|c.349G>A|p.(Gly117Arg)|missense GT:DP:AD:DP4 1/1:48:0,48:0,0,24,24 1 59248123 112915077 GGCT G 111 low_variant_fraction VARTYPE=1;BGN=0.000993604;ARL=226;DER=95;DEA=104;QR=35;QA=113;PBP=58;PBM=58;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs781350994,GnomAD_AC_exome:203,GnomAD_AN_exome:199812,GnomAD_AC_genome:1,GnomAD_AN_genome:30870,GnomAD:0.0009;SGVEP=JUN|-|NM_002228|1|c.617_619del|p.(Gln206del)|inframe_3 GT:DP:AD:DP4 0/1:162:147,8:74,73,4,4 1 59248813 112916386 G C 553 off_target VARTYPE=1;BGN=0.00171504;ARL=250;DEA=66;QA=35;PBP=276;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs2760499,g1000:0.9519,GnomAD_AC_genome:29525,GnomAD_AN_genome:30904,GnomAD:0.9554;SGVEP=JUN|-|NM_002228|1|c.-71C>G|.|5'UTR GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 1 60370667 113343586 C T 821 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DER=92;DEA=112;QR=36;QA=37;PBP=427;PBM=403;TYPE=SNP;DBXREF=dbSNP:rs142713068,esp5400:0.0002,ExAC:0.0002,PhyloP:2.8290,SIFT:0.9110,PolyPhen2:0.8050,PolyPhen2_HumDiv:0.8440,LRT:1.0000,MutationTaster:0.9860,GERP:5.0300,GnomAD_AC_exome:51,GnomAD_AN_exome:246002,GnomAD_AC_genome:8,GnomAD_AN_genome:30950,GnomAD:0.0002;SGVEP=CYP2J2|-|NM_000775|7|c.1067G>A|p.(Arg356Gln)|missense GT:DP:AD:DP4 0/1:92:55,37:28,27,19,18 1 60373666 113349045 A C 284 off_target VARTYPE=1;BGN=0.00119188;ARL=241;DER=35;DEA=32;QR=38;QA=37;PBP=134;PBM=156;TYPE=SNP;DBXREF=dbSNP:rs2271800,g1000:0.2378,GnomAD_AC_genome:7607,GnomAD_AN_genome:30922,GnomAD:0.2460;SGVEP=CYP2J2|-|NM_000775|6|c.862-67T>G|.|intronic GT:DP:AD:DP4 0/1:37:24,13:11,13,6,7 1 60381584 113352495 C T 522 off_target VARTYPE=1;BGN=0.000993604;ARL=236;DER=55;DEA=55;QR=37;QA=38;PBP=278;PBM=250;TYPE=SNP;DBXREF=dbSNP:rs3738474,g1000:0.0373,esp5400:0.0542,ExAC:0.0580,GnomAD_AC_exome:13683,GnomAD_AN_exome:240784,GnomAD_AC_genome:1485,GnomAD_AN_genome:30946,GnomAD:0.0558;SGVEP=CYP2J2|-|NM_000775|2|c.373+26G>A|.|intronic GT:DP:AD:DP4 0/1:39:18,21:9,9,11,10 1 60392494 113357694 C A 237 off_target VARTYPE=1;BGN=0.00119188;ARL=225;DER=33;DEA=47;QR=36;QA=37;PBP=70;PBM=172;SP=2;TYPE=SNP;DBXREF=dbSNP:rs890293,g1000:0.0783,GnomAD_AC_genome:2552,GnomAD_AN_genome:30926,GnomAD:0.0825;SGVEP=CYP2J2|-|NM_000775|1|.|.|intergenic GT:DP:AD:DP4 0/1:21:11,10:5,6,3,7 1 61743160 113830010 G A 163 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=196;DER=55;DEA=33;QR=36;QA=38;PBP=69;PBM=99;SP=2;TYPE=SNP;DBXREF=dbSNP:rs332827,g1000:0.3502,esp5400:0.3337,ExAC:0.4430,GnomAD_AC_exome:112023,GnomAD_AN_exome:245686,GnomAD_AC_genome:11207,GnomAD_AN_genome:30892,GnomAD:0.4456;SGVEP=NFIA|+|NM_001134673|3|c.560-32G>A|.|intronic GT:DP:AD:DP4 0/1:19:12,7:7,5,3,4 1 61848946 . G A 1056 PASS VARTYPE=1;BGN=0.00119188;ARL=208;DER=82;DEA=66;QR=38;QA=37;PBP=519;PBM=547;TYPE=SNP;SGVEP=NFIA|+|NM_001134673|7|c.984G>A|p.(Lys328:)|synonymous GT:DP:AD:DP4 0/1:110:63,47:32,31,23,24 1 61869783 113889545 G A 461 PASS VARTYPE=1;BGN=0.00142973;ARL=223;DER=75;DEA=50;QR=36;QA=36;PBP=244;PBM=225;TYPE=SNP;DBXREF=dbSNP:rs2236059,g1000:0.3538,esp5400:0.2734,ExAC:0.3180,GnomAD_AC_exome:79317,GnomAD_AN_exome:245906,GnomAD_AC_genome:9448,GnomAD_AN_genome:30874,GnomAD:0.3207;SGVEP=NFIA|+|NM_001134673|8|c.1083G>A|p.(Pro361:)|synonymous GT:DP:AD:DP4 0/1:76:53,23:28,25,12,11 1 61892301 113904703 TG TGG 611 off_target VARTYPE=1;BGN=0.00171504;ARL=251;DER=3;DEA=43;QR=36;QA=35;PBP=321;PBM=293;TYPE=INDEL;DBXREF=dbSNP:rs397779589,g1000:0.9998,GnomAD_AC_genome:30956,GnomAD_AN_genome:30956,GnomAD:1.0000;SGVEP=NFIA|+|NM_001134673|10|c.1512+74dupG|.|intronic GT:DP:AD:DP4 1/1:25:2,23:1,1,12,11 1 62939634 114307250 C T 1347 off_target VARTYPE=1;BGN=0.000993604;ARL=224;DEA=52;QA=38;PBP=719;PBM=630;TYPE=SNP;DBXREF=dbSNP:rs1168007,g1000:0.9631,esp5400:0.9614,ExAC:0.9890,GnomAD_AC_exome:242227,GnomAD_AN_exome:244360,GnomAD_AC_genome:29902,GnomAD_AN_genome:30958,GnomAD:0.9884;SGVEP=DOCK7|-|NM_001271999|47|c.6179+19G>A|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,24,21 1 62953183 114311852 C T 330 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=259;DEA=68;QA=38;PBP=180;PBM=150;TYPE=SNP;DBXREF=dbSNP:rs1168025,g1000:0.9952,GnomAD_AC_genome:30827,GnomAD_AN_genome:30970,GnomAD:0.9954;SGVEP=DOCK7|-|NM_001271999|42|c.5466+1422G>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 1 62961928 114315181 T C 300 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=247;DEA=35;QA=38;PBP=150;PBM=150;TYPE=SNP;DBXREF=dbSNP:rs1168038,g1000:0.9804,GnomAD_AC_genome:30412,GnomAD_AN_genome:30960,GnomAD:0.9823;SGVEP=DOCK7|-|NM_001271999|38|c.4896+82A>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 63001120 114327698 A C 1661 off_target VARTYPE=1;BGN=0.00119188;ARL=247;DEA=47;QA=37;PBP=817;PBM=846;TYPE=SNP;DBXREF=dbSNP:rs1168018,g1000:0.5751,esp5400:0.5671,ExAC:0.6310,GnomAD_AC_exome:146475,GnomAD_AN_exome:229194,GnomAD_AC_genome:18427,GnomAD_AN_genome:30922,GnomAD:0.6340;SGVEP=DOCK7|-|NM_001271999|29|c.3611+44T>G|.|intronic GT:DP:AD:DP4 1/1:57:0,57:0,0,28,29 1 63027411 114343754 AG A 258 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=235;DER=89;DEA=69;QR=38;QA=35;PBP=130;PBM=130;TYPE=INDEL;DBXREF=dbSNP:rs5774610,g1000:0.9722,ExAC:0.9910,GnomAD_AC_exome:178186,GnomAD_AN_exome:179354,GnomAD_AC_genome:30080,GnomAD_AN_genome:30922,GnomAD:0.9904;SGVEP=DOCK7|-|NM_001271999|19|c.2113-38del|.|intronic GT:DP:AD:DP4 1/1:12:2,10:1,1,5,5 1 63052344 114352865 CTA C 196 off_target VARTYPE=1;BGN=0.000993604;ARL=234;DER=34;DEA=43;QR=37;QA=72;PBP=114;PBM=88;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs56200511,g1000:0.1709,ExAC:0.2230,GnomAD_AC_exome:46748,GnomAD_AN_exome:200856,GnomAD_AC_genome:6272,GnomAD_AN_genome:30850,GnomAD:0.2288;SGVEP=DOCK7|-|NM_001271999|15|c.1683-51_1683-50del|.|intronic GT:DP:AD:DP4 0/1:32:23,9:11,12,5,4 1 63113511 114383229 C A 360 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=227;DEA=38;QA=38;PBP=180;PBM=180;TYPE=SNP;DBXREF=dbSNP:rs746735,g1000:0.5747,GnomAD_AC_genome:18373,GnomAD_AN_genome:30862,GnomAD:0.5953;SGVEP=DOCK7|-|NM_001271999|7|c.733-64G>T|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 63113689 114383258 T C 360 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=243;DEA=35;QA=38;PBP=180;PBM=180;TYPE=SNP;DBXREF=dbSNP:rs1168088,g1000:0.9828,GnomAD_AC_genome:30477,GnomAD_AN_genome:30956,GnomAD:0.9845;SGVEP=DOCK7|-|NM_001271999|6|c.732+88A>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 63113719 114383267 T C 555 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=236;DEA=47;QA=37;PBP=292;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs1168089,g1000:0.5719,GnomAD_AC_genome:18313,GnomAD_AN_genome:30878,GnomAD:0.5931;SGVEP=DOCK7|-|NM_001271999|6|c.732+58A>G|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,10,9 1 63881552 100428 C T 420 low_coverage VARTYPE=1;BGN=0.000993604;ARL=203;DEA=73;QA=38;PBP=210;PBM=210;TYPE=SNP;DBXREF=dbSNP:rs4630153,g1000:0.8305,esp5400:0.7381,ExAC:0.7500,PhyloP:0.3400,SIFT:0.7870,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.9500,MutationTaster:0.0000,GERP:3.9100,clinvar:rs4630153,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:184016,GnomAD_AN_exome:244474,GnomAD_AC_genome:22996,GnomAD_AN_genome:30912,GnomAD:0.7517;SGVEP=ALG6|+|NM_013339|11|c.911C>T|p.(Ser304Phe)|missense GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 1 64059472 114758504 C T 375 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=262;DER=53;DEA=72;QR=23;QA=35;PBP=138;PBM=239;TYPE=SNP;DBXREF=dbSNP:rs11584276,g1000:0.0525,GnomAD_AC_genome:2529,GnomAD_AN_genome:30808,GnomAD:0.0821;SGVEP=PGM1|+|NM_002633|1|c.246+67C>T|.|intronic GT:DP:AD:DP4 1/1:15:1,14:0,1,5,9 1 64095862 114786476 G A 167 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=275;DER=36;DEA=60;QR=37;QA=37;PBP=98;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs72681118,g1000:0.1132,GnomAD_AC_genome:2689,GnomAD_AN_genome:30944,GnomAD:0.0869;SGVEP=PGM1|+|NM_001172818|3|c.610+103G>A|.|intronic GT:DP:AD:DP4 0/1:15:8,7:4,4,4,3 1 64097432 114786879 C T 874 PASS VARTYPE=1;BGN=0.00119188;ARL=216;DER=73;DEA=73;QR=36;QA=37;PBP=429;PBM=454;TYPE=SNP;DBXREF=dbSNP:rs1126728,g1000:0.2414,esp5400:0.2264,ExAC:0.2430,PhyloP:2.8850,SIFT:0.7900,PolyPhen2:0.1430,PolyPhen2_HumDiv:0.6790,LRT:1.0000,MutationTaster:1.0000,GERP:5.7500,clinvar:rs1126728,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:60218,GnomAD_AN_exome:245854,GnomAD_AC_genome:7285,GnomAD_AN_genome:30888,GnomAD:0.2439;SGVEP=PGM1|+|NM_001172818|4|c.715C>T|p.(Arg239Cys)|missense GT:DP:AD:DP4 0/1:93:54,39:27,27,19,20 1 64100478 114787712 A T 539 off_target VARTYPE=1;BGN=0.000993604;ARL=240;DER=61;DEA=48;QR=37;QA=38;PBP=329;PBM=218;TYPE=SNP;DBXREF=dbSNP:rs6588052,g1000:0.5002,esp5400:0.4260,ExAC:0.4140,GnomAD_AC_exome:100983,GnomAD_AN_exome:243386,GnomAD_AC_genome:13940,GnomAD_AN_genome:30864,GnomAD:0.4190;SGVEP=PGM1|+|NM_001172818|5|c.737-22A>T|.|intronic GT:DP:AD:DP4 0/1:43:21,22:10,11,13,9 1 64102114 114788381 A G 770 off_target VARTYPE=1;BGN=0.00171504;ARL=241;DER=46;DEA=37;QR=37;QA=35;PBP=367;PBM=410;TYPE=SNP;DBXREF=dbSNP:rs2269248,g1000:0.4940,GnomAD_AC_genome:13786,GnomAD_AN_genome:30890,GnomAD:0.4463;SGVEP=PGM1|+|NM_001172818|6|c.1082+55A>G|.|intronic GT:DP:AD:DP4 0/1:46:14,32:6,8,15,17 1 65830297 115468676 G T 272 off_target VARTYPE=1;BGN=0.000993604;ARL=216;DER=23;DEA=44;QR=32;QA=38;PBP=93;PBM=195;SP=11;TYPE=SNP;DBXREF=dbSNP:rs2296478,g1000:0.5503,esp5400:0.0460,GnomAD_AC_exome:71317,GnomAD_AN_exome:131774,GnomAD_AC_genome:15058,GnomAD_AN_genome:25688,GnomAD:0.5485;SGVEP=DNAJC6|+|NM_001256864|2|c.194-21G>T|.|intronic GT:DP:AD:DP4 0/1:22:7,11:5,2,4,7 1 65830299 115468743 T G 159 off_target VARTYPE=1;BGN=0.00171504;ARL=217;DER=47;DEA=39;QR=36;QA=35;PBP=82;PBM=82;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2296479,g1000:0.5503,GnomAD_AC_exome:59869,GnomAD_AN_exome:115876,GnomAD_AC_genome:13320,GnomAD_AN_genome:23756,GnomAD:0.5242;SGVEP=DNAJC6|+|NM_001256864|2|c.194-19T>G|.|intronic GT:DP:AD:DP4 0/1:26:18,8:9,9,4,4 1 65844963 115473967 A G 253 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=276;DER=41;DEA=33;QR=32;QA=37;PBP=129;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs3818449,g1000:0.7602,GnomAD_AC_genome:21338,GnomAD_AN_genome:30914,GnomAD:0.6902;SGVEP=DNAJC6|+|NM_001256864|5|c.544-122A>G|.|intronic GT:DP:AD:DP4 0/1:16:6,10:3,3,5,5 1 65858088 115479286 T C 365 off_target VARTYPE=1;BGN=0.00142973;ARL=221;DER=81;DEA=42;QR=36;QA=36;PBP=197;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs6588144,g1000:0.4159,esp5400:0.5041,ExAC:0.4830,GnomAD_AC_exome:93068,GnomAD_AN_exome:190090,GnomAD_AC_genome:14615,GnomAD_AN_genome:30908,GnomAD:0.4873;SGVEP=DNAJC6|+|NM_001256864|12|c.1469-26T>C|.|intronic GT:DP:AD:DP4 0/1:44:27,17:14,13,9,8 1 65858145 115479346 G A 1095 PASS VARTYPE=1;BGN=0.00119188;ARL=220;DER=96;DEA=64;QR=36;QA=37;PBP=566;PBM=540;TYPE=SNP;DBXREF=dbSNP:rs4325172,g1000:0.3540,esp5400:0.4598,ExAC:0.4540,GnomAD_AC_exome:110235,GnomAD_AN_exome:240958,GnomAD_AC_genome:13284,GnomAD_AN_genome:30888,GnomAD:0.4544;SGVEP=DNAJC6|+|NM_001256864|12|c.1500G>A|p.(Glu500:)|synonymous GT:DP:AD:DP4 0/1:95:48,47:24,24,24,23 1 65860687 115480563 A C 581 PASS VARTYPE=1;BGN=0.00142973;ARL=224;DER=74;DEA=83;QR=37;QA=36;PBP=283;PBM=306;TYPE=SNP;DBXREF=dbSNP:rs4582839,g1000:0.7578,esp5400:0.6977,ExAC:0.6470,GnomAD_AC_exome:156000,GnomAD_AN_exome:243110,GnomAD_AC_genome:21235,GnomAD_AN_genome:30916,GnomAD:0.6468;SGVEP=DNAJC6|+|NM_001256864|13|c.2010A>C|p.(Pro670:)|synonymous GT:DP:AD:DP4 0/1:95:66,29:33,33,14,15 1 65867391 115487454 C G 640 off_target VARTYPE=1;BGN=0.00142973;ARL=243;DER=48;DEA=64;QR=38;QA=36;PBP=322;PBM=325;TYPE=SNP;DBXREF=dbSNP:rs4592284,g1000:0.7314,GnomAD_AC_genome:20429,GnomAD_AN_genome:30892,GnomAD:0.6613;SGVEP=DNAJC6|+|NM_001256864|15|c.2108-53C>G|.|intronic GT:DP:AD:DP4 0/1:55:27,28:14,13,14,14 1 66036501 115554831 G T 1167 off_target VARTYPE=1;BGN=0.00119188;ARL=234;DEA=63;QA=37;PBP=584;PBM=584;TYPE=SNP;DBXREF=dbSNP:rs2186248,g1000:1.0000,esp5400:0.9993,ExAC:1.0000,GnomAD_AC_exome:183698,GnomAD_AN_exome:183722,GnomAD_AC_genome:30959,GnomAD_AN_genome:30970,GnomAD:0.9998;SGVEP=LEPR|+|NM_001003679|4|c.370+16G>T|.|intronic GT:DP:AD:DP4 1/1:40:0,40:0,0,20,20 1 66058513 100527 A G 707 PASS VARTYPE=1;BGN=0.000993604;ARL=197;DER=90;DEA=68;QR=38;QA=38;PBP=357;PBM=357;TYPE=SNP;DBXREF=dbSNP:rs1137101,g1000:0.5843,esp5400:0.4864,ExAC:0.5090,PhyloP:0.5130,SIFT:0.8130,PolyPhen2:0.2340,PolyPhen2_HumDiv:0.8280,LRT:0.9440,MutationTaster:1.0000,GERP:3.6600,clinvar:rs1137101,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:123990,GnomAD_AN_exome:245296,GnomAD_AC_genome:16451,GnomAD_AN_genome:30816,GnomAD:0.5086;SGVEP=LEPR|+|NM_001003679|6|c.668A>G|p.(Gln223Arg)|missense GT:DP:AD:DP4 0/1:48:20,28:10,10,14,14 1 66067109 115575974 T C 483 PASS VARTYPE=1;BGN=0.00142973;ARL=203;DER=66;DEA=58;QR=38;QA=36;PBP=257;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs1805134,g1000:0.2540,esp5400:0.2426,ExAC:0.2280,clinvar:rs1805134,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:53584,GnomAD_AN_exome:245742,GnomAD_AC_genome:7424,GnomAD_AN_genome:30880,GnomAD:0.2205;SGVEP=LEPR|+|NM_001003679|9|c.1029T>C|p.(Ser343:)|synonymous GT:DP:AD:DP4 0/1:41:20,21:10,10,11,10 1 66731886 115844906 G C 321 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=255;DEA=46;QA=37;PBP=146;PBM=175;TYPE=SNP;DBXREF=dbSNP:rs6588193,g1000:0.2742,GnomAD_AC_genome:12631,GnomAD_AN_genome:30918,GnomAD:0.4085;SGVEP=PDE4B|+|NM_001037340|5|c.589+116G>C|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 1 66829262 115858517 A G 1457 off_target VARTYPE=1;BGN=0.00119188;ARL=218;DEA=52;QA=37;PBP=730;PBM=730;TYPE=SNP;DBXREF=dbSNP:rs783039,g1000:0.8690,esp5400:0.7941,ExAC:0.7910,GnomAD_AC_exome:187909,GnomAD_AN_exome:239494,GnomAD_AC_genome:24190,GnomAD_AN_genome:30870,GnomAD:0.7845;SGVEP=PDE4B|+|NM_001037339|5|c.768+8A>G|.|intronic GT:DP:AD:DP4 1/1:50:0,50:0,0,25,25 1 67487119 116161143 C A 370 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=231;DEA=32;QA=36;PBP=171;PBM=199;TYPE=SNP;DBXREF=dbSNP:rs2065002,g1000:0.6322,GnomAD_AC_genome:17687,GnomAD_AN_genome:30868,GnomAD:0.5730;SGVEP=SLC35D1|-|NM_015139|9|c.797+99G>T|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 1 67487374 116161231 TCCAACA T 123 off_target VARTYPE=1;BGN=0.000993604;ARL=225;DER=31;DEA=58;QR=36;QA=214;PBP=89;PBM=40;SP=2;TYPE=INDEL;DBXREF=dbSNP:rs548048694,g1000:0.6204,GnomAD_AC_genome:8491,GnomAD_AN_genome:26634,GnomAD:0.3188;SGVEP=SLC35D1|-|NM_015139|9|c.730-95_730-90del|.|intronic GT:DP:AD:DP4 0/1:29:23,6:11,12,4,2 1 67487376 116161242 C A 335 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=234;DEA=38;QA=37;PBP=175;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs61780038,g1000:0.5535,GnomAD_AC_genome:4266,GnomAD_AN_genome:24582,GnomAD:0.1735;SGVEP=SLC35D1|-|NM_015139|9|c.730-91G>T|.|intronic GT:DP:AD:DP4 0/1:19:0,13:0,0,6,7 1 67487377 116161244 A G 313 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=234;DEA=36;QA=38;PBP=180;PBM=172;TYPE=SNP;DBXREF=dbSNP:rs61780039,g1000:0.1522,GnomAD_AC_genome:4246,GnomAD_AN_genome:25624,GnomAD:0.1657;SGVEP=SLC35D1|-|NM_015139|9|c.730-92T>C|.|intronic GT:DP:AD:DP4 0/1:19:0,12:0,0,6,6 1 67487389 116161251 G C 176 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=219;DER=75;DEA=15;QR=30;QA=37;PBP=72;PBM=110;SP=5;TYPE=SNP;DBXREF=dbSNP:rs11576749,GnomAD_AC_genome:1519,GnomAD_AN_genome:23384,GnomAD:0.0650;SGVEP=SLC35D1|-|NM_015139|9|c.730-104C>G|.|intronic GT:DP:AD:DP4 0/1:12:5,7:4,1,3,4 1 67487395 116161254 G C 322 low_coverage;off_target VARTYPE=1;BGN=0.00205729;ARL=217;DEA=46;QA=34;PBP=161;PBM=161;TYPE=SNP;DBXREF=dbSNP:rs11576752,g1000:0.6258,GnomAD_AC_genome:7996,GnomAD_AN_genome:24144,GnomAD:0.3312;SGVEP=SLC35D1|-|NM_015139|9|c.730-110C>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 67487401 116161263 G C 332 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=217;DEA=40;QA=35;PBP=166;PBM=166;TYPE=SNP;DBXREF=dbSNP:rs11576753,g1000:0.6316,GnomAD_AC_genome:12601,GnomAD_AN_genome:25752,GnomAD:0.4893;SGVEP=SLC35D1|-|NM_015139|9|c.730-116C>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 67508080 116165245 CCACT C 319 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=255;DER=65;DEA=50;QR=38;QA=151;PBP=180;PBM=142;TYPE=INDEL;DBXREF=dbSNP:rs10546548,g1000:0.3738,GnomAD_AC_genome:9158,GnomAD_AN_genome:30800,GnomAD:0.2973;SGVEP=SLC35D1|-|NM_015139|8|c.637-73_637-70del|.|intronic GT:DP:AD:DP4 1/1:12:1,11:0,1,6,5 1 67512903 116165856 G T 937 off_target VARTYPE=1;BGN=0.00142973;ARL=238;DEA=56;QA=36;PBP=483;PBM=455;TYPE=SNP;DBXREF=dbSNP:rs1024229,g1000:0.7095,esp5400:0.6925,ExAC:0.6720,GnomAD_AC_exome:158228,GnomAD_AN_exome:234822,GnomAD_AC_genome:21010,GnomAD_AN_genome:30898,GnomAD:0.6745;SGVEP=SLC35D1|-|NM_015139|7|c.636+45C>A|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,17,16 1 67512920 116165882 A C 1220 off_target VARTYPE=1;BGN=0.00142973;ARL=221;DEA=58;QA=36;PBP=625;PBM=597;TYPE=SNP;DBXREF=dbSNP:rs1024230,g1000:0.7095,esp5400:0.6912,ExAC:0.6750,GnomAD_AC_exome:162474,GnomAD_AN_exome:241062,GnomAD_AC_genome:21011,GnomAD_AN_genome:30906,GnomAD:0.6747;SGVEP=SLC35D1|-|NM_015139|7|c.636+28T>G|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,22,21 1 67633812 116198587 G T 384 PASS VARTYPE=1;BGN=0.000993604;ARL=217;DER=71;DEA=83;QR=37;QA=38;PBP=194;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs1884444,g1000:0.5302,esp5400:0.5204,ExAC:0.5280,PhyloP:1.2320,SIFT:0.6190,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0020,LRT:0.8360,MutationTaster:0.0000,GERP:2.0300,GnomAD_AC_exome:128845,GnomAD_AN_exome:245884,GnomAD_AC_genome:15881,GnomAD_AN_genome:30850,GnomAD:0.5230;SGVEP=IL23R|+|NM_144701|2|c.9G>T|p.(Gln3His)|missense GT:DP:AD:DP4 0/1:35:19,16:10,9,8,8 1 67648460 116202944 T C 963 off_target VARTYPE=1;BGN=0.00119188;ARL=236;DEA=37;QA=37;PBP=467;PBM=496;TYPE=SNP;DBXREF=dbSNP:rs6687620,g1000:0.9521,GnomAD_AC_genome:28126,GnomAD_AN_genome:30944,GnomAD:0.9089;SGVEP=IL23R|+|NM_144701|4|c.368-59T>C|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,16,17 1 67672765 116229142 G A 794 off_target VARTYPE=1;BGN=0.00119188;ARL=208;DER=34;DEA=58;QR=36;QA=37;PBP=339;PBM=462;TYPE=SNP;DBXREF=dbSNP:rs7539625,g1000:0.3816,esp5400:0.2992,ExAC:0.3300,GnomAD_AC_exome:80149,GnomAD_AN_exome:245714,GnomAD_AC_genome:9114,GnomAD_AN_genome:30844,GnomAD:0.3228;SGVEP=IL23R|+|NM_144701|6|c.798+27G>A|.|intronic GT:DP:AD:DP4 0/1:60:27,33:12,15,14,19 1 67685387 116229834 T C 1486 PASS VARTYPE=1;BGN=0.00119188;ARL=212;DEA=71;QA=37;PBP=730;PBM=759;TYPE=SNP;DBXREF=dbSNP:rs7530511,g1000:0.8760,esp5400:0.8375,ExAC:0.8780,PhyloP:1.3920,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9940,MutationTaster:0.0000,GERP:4.8800,GnomAD_AC_exome:217244,GnomAD_AN_exome:246104,GnomAD_AC_genome:26032,GnomAD_AN_genome:30958,GnomAD:0.8781;SGVEP=IL23R|+|NM_144701|7|c.929T>C|p.(Leu310Pro)|missense GT:DP:AD:DP4 1/1:51:0,51:0,0,25,26 1 67685443 116229852 G A 362 off_target VARTYPE=1;BGN=0.000993604;ARL=207;DER=30;DEA=29;QR=38;QA=38;PBP=199;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs7518660,g1000:0.4111,esp5400:0.4716,ExAC:0.4320,GnomAD_AC_exome:106570,GnomAD_AN_exome:245376,GnomAD_AC_genome:14049,GnomAD_AN_genome:30888,GnomAD:0.4366;SGVEP=IL23R|+|NM_144701|7|c.955+30G>A|.|intronic GT:DP:AD:DP4 0/1:32:17,15:8,9,8,7 1 67702526 116230722 T G 323 off_target VARTYPE=1;BGN=0.000993604;ARL=225;DER=36;DEA=57;QR=36;QA=38;PBP=150;PBM=178;TYPE=SNP;DBXREF=dbSNP:rs11465804,g1000:0.0341,esp5400:0.0591,ExAC:0.0440,GnomAD_AC_exome:10823,GnomAD_AN_exome:244208,GnomAD_AC_genome:1495,GnomAD_AN_genome:30964,GnomAD:0.0448;SGVEP=IL23R|+|NM_144701|8|c.1045+41T>G|.|intronic GT:DP:AD:DP4 0/1:25:12,13:6,6,6,7 1 67795319 116255725 T C 1628 PASS VARTYPE=1;BGN=0.00119188;ARL=205;DEA=82;QA=37;PBP=846;PBM=817;TYPE=SNP;DBXREF=dbSNP:rs1495963,g1000:0.8502,esp5400:0.9083,ExAC:0.9320,PhyloP:-3.2520,MutationTaster:0.0000,GERP:-10.4000,GnomAD_AC_exome:229595,GnomAD_AN_exome:246210,GnomAD_AC_genome:27903,GnomAD_AN_genome:30918,GnomAD:0.9292;SGVEP=IL12RB2|+|NM_001258214|7|c.714T>C|p.(Ser238:)|synonymous GT:DP:AD:DP4 1/1:59:0,57:0,0,29,28 1 67845648 116289419 CTTCCT C 1347 off_target VARTYPE=1;BGN=0.000993604;ARL=225;DEA=79;QA=188;PBP=660;PBM=689;TYPE=INDEL;DBXREF=dbSNP:rs146207069,g1000:0.0451,ExAC:0.0530,GnomAD_AC_exome:13357,GnomAD_AN_exome:246100,GnomAD_AC_genome:1291,GnomAD_AN_genome:30964,GnomAD:0.0529;SGVEP=IL12RB2|+|NM_001258214|14|c.1718-18_1718-14del|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,22,23 1 67861520 116298469 C A 2588 PASS VARTYPE=1;BGN=0.00119188;ARL=227;DEA=107;QA=37;PBP=1312;PBM=1283;TYPE=SNP;DBXREF=dbSNP:rs2229546,g1000:0.5551,esp5400:0.6150,ExAC:0.6300,GnomAD_AC_exome:154663,GnomAD_AN_exome:245234,GnomAD_AC_genome:19236,GnomAD_AN_genome:30886,GnomAD:0.6298;SGVEP=IL12RB2|+|NM_001258215|14|c.2079C>A|p.(Pro693:)|synonymous GT:DP:AD:DP4 1/1:89:0,89:0,0,45,44 1 68151980 116414572 T G 857 off_target VARTYPE=1;BGN=0.00142973;ARL=231;DER=69;DEA=86;QR=33;QA=36;PBP=463;PBM=402;TYPE=SNP;DBXREF=dbSNP:rs2759219,g1000:0.7480,GnomAD_AC_genome:25166,GnomAD_AN_genome:30848,GnomAD:0.8158;SGVEP=GADD45A|+|NM_001199741|2|c.45-53T>G|.|intronic GT:DP:AD:DP4 0/1:60:24,36:11,13,19,17 1 68152363 116415020 G A 488 off_target VARTYPE=1;BGN=0.00171504;ARL=266;DER=51;DEA=45;QR=37;QA=35;PBP=178;PBM=315;TYPE=SNP;DBXREF=dbSNP:rs3783468,g1000:0.4203,GnomAD_AC_genome:13738,GnomAD_AN_genome:30872,GnomAD:0.4450;SGVEP=GADD45A|+|NM_001199741|2|c.282+93G>A|.|intronic GT:DP:AD:DP4 0/1:28:8,20:2,6,7,13 1 68152388 116415051 T C 183 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=279;DER=37;DEA=37;QR=35;QA=35;PBP=48;PBM=139;SP=0;TYPE=SNP;DBXREF=dbSNP:rs681673,g1000:0.5875,GnomAD_AC_genome:19086,GnomAD_AN_genome:30894,GnomAD:0.6178;SGVEP=GADD45A|+|NM_001199741|2|c.282+118T>C|.|intronic GT:DP:AD:DP4 0/1:15:7,8:2,5,2,6 1 68896644 116678033 G A 423 off_target VARTYPE=1;BGN=0.00142973;ARL=280;DER=22;DEA=57;QR=37;QA=36;PBP=201;PBM=227;TYPE=SNP;DBXREF=dbSNP:rs932783,g1000:0.5631,GnomAD_AC_genome:13232,GnomAD_AN_genome:30886,GnomAD:0.4284;SGVEP=RPE65|-|NM_000329|13|c.1450+104C>T|.|intronic GT:DP:AD:DP4 0/1:25:8,17:4,4,8,9 1 68905358 116679363 G C 674 off_target VARTYPE=1;BGN=0.00119188;ARL=212;DER=42;DEA=55;QR=35;QA=37;PBP=339;PBM=343;TYPE=SNP;DBXREF=dbSNP:rs1925955,g1000:0.6935,esp5400:0.5204,ExAC:0.5260,clinvar:rs1925955,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:128823,GnomAD_AN_exome:245140,GnomAD_AC_genome:16771,GnomAD_AN_genome:30832,GnomAD:0.5276;SGVEP=RPE65|-|NM_000329|7|c.644-33C>G|.|intronic GT:DP:AD:DP4 0/1:51:23,28:12,11,14,14 1 70887183 117260711 A C 316 off_target VARTYPE=1;BGN=0.00142973;ARL=235;DER=35;DEA=49;QR=37;QA=36;PBP=161;PBM=161;TYPE=SNP;DBXREF=dbSNP:rs6413471,g1000:0.0515,GnomAD_AC_genome:1750,GnomAD_AN_genome:30966,GnomAD:0.0565;SGVEP=CTH|+|NM_001190463|3|c.251-66A>C|.|intronic GT:DP:AD:DP4 0/1:30:16,14:8,8,7,7 1 70904523 117264905 T TTGTG 139 off_target VARTYPE=1;BGN=0.000993604;ARL=202;DER=55;DEA=92;QR=36;QA=136;PBP=60;PBM=85;SP=2;TYPE=INDEL;DBXREF=dbSNP:rs58815241,g1000:0.3722,clinvar:rs58815241,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:11444,GnomAD_AN_genome:29164,GnomAD:0.3924;SGVEP=CTH|+|NM_001190463|10|c.1095+40_1095+43dup|.|intronic GT:DP:AD:DP4 0/1:38:29,7:16,13,3,4 1 72058405 117559231 T C 284 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=254;DEA=51;QA=36;PBP=142;PBM=142;TYPE=SNP;DBXREF=dbSNP:rs1334005,g1000:0.8498,GnomAD_AC_genome:27863,GnomAD_AN_genome:30942,GnomAD:0.9005;SGVEP=NEGR1|-|NM_173808|6|c.940+95A>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 72058552 117559331 G A 1457 PASS VARTYPE=1;BGN=0.00119188;ARL=204;DEA=88;QA=37;PBP=671;PBM=788;TYPE=SNP;DBXREF=dbSNP:rs1413368,g1000:0.8496,esp5400:0.8942,ExAC:0.9430,GnomAD_AC_exome:233115,GnomAD_AN_exome:246092,GnomAD_AC_genome:27855,GnomAD_AN_genome:30934,GnomAD:0.9420;SGVEP=NEGR1|-|NM_173808|6|c.888C>T|p.(Thr296:)|synonymous GT:DP:AD:DP4 1/1:50:0,50:0,0,23,27 1 72242039 117616990 G A 459 off_target VARTYPE=1;BGN=0.00119188;ARL=259;DER=61;DEA=51;QR=38;QA=37;PBP=246;PBM=219;TYPE=SNP;DBXREF=dbSNP:rs6424448,g1000:0.7484,GnomAD_AC_genome:23408,GnomAD_AN_genome:30928,GnomAD:0.7569;SGVEP=NEGR1|-|NM_173808|3|c.410-59C>T|.|intronic GT:DP:AD:DP4 0/1:35:16,19:8,8,10,9 1 74701950 118411675 T A 247 off_target VARTYPE=1;BGN=0.000993604;ARL=230;DER=41;DEA=64;QR=37;QA=38;PBP=126;PBM=126;TYPE=SNP;DBXREF=dbSNP:rs532221,g1000:0.3518,GnomAD_AC_genome:8866,GnomAD_AN_genome:30794,GnomAD:0.2879;SGVEP=TNNI3K|+|NM_015978|2|c.149+56T>A|.|intronic GT:DP:AD:DP4 0/1:20:10,10:5,5,5,5 1 74819077 118443739 T G 992 off_target VARTYPE=1;BGN=0.00119188;ARL=233;DEA=59;QA=37;PBP=467;PBM=526;TYPE=SNP;DBXREF=dbSNP:rs6424586,g1000:0.9391,esp5400:0.9233,ExAC:0.9420,GnomAD_AC_exome:229782,GnomAD_AN_exome:243430,GnomAD_AC_genome:28545,GnomAD_AN_genome:30788,GnomAD:0.9420;SGVEP=TNNI3K|+|NM_015978|10|c.1027+33T>G|.|intronic GT:DP:AD:DP4 1/1:34:0,34:0,0,16,18 1 75603055 118663230 A G 351 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=274;DEA=58;QA=37;PBP=146;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs1526503,g1000:0.9994,GnomAD_AC_genome:30944,GnomAD_AN_genome:30968,GnomAD:0.9992;SGVEP=LHX8|+|NM_001001933|4|c.267+109A>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,5,7 1 75609049 118665022 A C 269 off_target VARTYPE=1;BGN=0.00142973;ARL=240;DER=87;DEA=35;QR=35;QA=36;PBP=111;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs12041465,g1000:0.3225,esp5400:0.1647,ExAC:0.2530,GnomAD_AC_exome:61709,GnomAD_AN_exome:224112,GnomAD_AC_genome:6667,GnomAD_AN_genome:30922,GnomAD:0.2681;SGVEP=LHX8|+|NM_001001933|6|c.610+26A>C|.|intronic GT:DP:AD:DP4 0/1:27:15,12:8,7,5,7 1 75622616 118669452 C T 868 PASS VARTYPE=1;BGN=0.000993604;ARL=202;DER=74;DEA=86;QR=37;QA=38;PBP=451;PBM=427;TYPE=SNP;DBXREF=dbSNP:rs941032,g1000:0.3940,esp5400:0.4348,ExAC:0.4100,GnomAD_AC_exome:98793,GnomAD_AN_exome:246210,GnomAD_AC_genome:12890,GnomAD_AN_genome:30866,GnomAD:0.4031;SGVEP=LHX8|+|NM_001001933|9|c.849C>T|p.(His283:)|synonymous GT:DP:AD:DP4 0/1:110:71,39:36,35,20,19 1 76190569 118886669 C G 825 off_target VARTYPE=1;BGN=0.00142973;ARL=221;DER=59;DEA=45;QR=36;QA=36;PBP=423;PBM=410;TYPE=SNP;DBXREF=dbSNP:rs1251075,g1000:0.3187,esp5400:0.3763,GnomAD_AC_genome:11267,GnomAD_AN_genome:30826,GnomAD:0.3655;SGVEP=ACADM|+|NM_000016|1|c.30+67C>G|.|intronic GT:DP:AD:DP4 0/1:53:19,34:8,11,17,17 1 76194054 118887568 C G 466 off_target VARTYPE=1;BGN=0.000993604;ARL=225;DER=48;DEA=31;QR=37;QA=38;PBP=247;PBM=224;TYPE=SNP;DBXREF=dbSNP:rs7524467,g1000:0.1829,esp5400:0.2506,ExAC:0.2430,clinvar:rs7524467,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:59851,GnomAD_AN_exome:241860,GnomAD_AC_genome:7297,GnomAD_AN_genome:30898,GnomAD:0.2462;SGVEP=ACADM|+|NM_000016|2|c.31-32C>G|.|intronic GT:DP:AD:DP4 1/1:22:5,17:3,2,9,8 1 76194229 100929 GTTTT GTTT 213 low_coverage;off_target VARTYPE=1;BGN=0.0214649;ARL=247;DER=94;DEA=69;QR=38;QA=36;HL=4;PBP=108;PBM=108;TYPE=INDEL;DBXREF=dbSNP:rs796117827,g1000:1.0000,clinvar:rs796117827,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:30978,GnomAD_AN_genome:30978,GnomAD:1.0000;SGVEP=ACADM|+|NM_000016|2|c.118+60del|.|intronic GT:DP:AD:DP4 1/1:16:2,14:1,1,7,7 1 76198436 100959 T C 412 off_target VARTYPE=1;BGN=0.00142973;ARL=243;DER=111;DEA=107;QR=38;QA=36;PBP=221;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs2275378,g1000:0.2312,esp5400:0.3139,ExAC:0.2740,clinvar:rs2275378,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:68036,GnomAD_AN_exome:246104,GnomAD_AC_genome:9046,GnomAD_AN_genome:30920,GnomAD:0.2783;SGVEP=ACADM|+|NM_000016|3|c.216+10T>C|.|intronic GT:DP:AD:DP4 0/1:47:28,19:14,14,10,9 1 76198785 118889707 G A 789 PASS VARTYPE=1;BGN=0.000993604;ARL=201;DER=100;DEA=90;QR=36;QA=38;PBP=384;PBM=413;TYPE=SNP;DBXREF=dbSNP:rs3818855,g1000:0.2310,esp5400:0.3092,ExAC:0.2700,GnomAD_AC_exome:66131,GnomAD_AN_exome:240136,GnomAD_AC_genome:9054,GnomAD_AN_genome:30910,GnomAD:0.2774;SGVEP=ACADM|+|NM_001286043|5|c.336G>A|p.(Ala112:)|synonymous GT:DP:AD:DP4 0/1:70:37,33:19,18,16,17 1 76199345 118890245 C G 522 off_target VARTYPE=1;BGN=0.00119188;ARL=234;DER=47;DEA=52;QR=37;QA=37;PBP=266;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs2153126,g1000:0.2310,esp5400:0.3138,ExAC:0.2730,clinvar:rs2153126,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:67979,GnomAD_AN_exome:246014,GnomAD_AC_genome:9034,GnomAD_AN_genome:30856,GnomAD:0.2782;SGVEP=ACADM|+|NM_000016|5|c.387+32C>G|.|intronic GT:DP:AD:DP4 0/1:43:21,22:10,11,11,11 1 76205643 118892915 C A 343 off_target VARTYPE=1;BGN=0.00119188;ARL=212;DER=42;DEA=26;QR=35;QA=37;PBP=172;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs12127402,g1000:0.1901,esp5400:0.2560,ExAC:0.2370,clinvar:rs12127402,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:54738,GnomAD_AN_exome:221172,GnomAD_AC_genome:7500,GnomAD_AN_genome:30930,GnomAD:0.2469;SGVEP=ACADM|+|NM_000016|7|c.469-22C>A|.|intronic GT:DP:AD:DP4 0/1:25:11,14:6,5,7,7 1 76227022 101235 A G 1379 PASS VARTYPE=1;BGN=0.00119188;ARL=223;DER=76;DEA=60;QR=37;QA=37;PBP=685;PBM=705;TYPE=SNP;DBXREF=dbSNP:rs1061337,g1000:0.1743,esp5400:0.2473,ExAC:0.2330,clinvar:rs1061337,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:57623,GnomAD_AN_exome:245484,GnomAD_AC_genome:7139,GnomAD_AN_genome:30926,GnomAD:0.2343;SGVEP=ACADM|+|NM_000016|11|c.1161A>G|p.(Val387:)|synonymous GT:DP:AD:DP4 0/1:99:42,57:20,22,28,29 1 77042405 119221209 G A 123 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=260;DER=30;DEA=49;QR=33;QA=38;PBP=48;PBM=80;SP=2;TYPE=SNP;DBXREF=dbSNP:rs315029,g1000:0.3007,GnomAD_AC_genome:8420,GnomAD_AN_genome:30860,GnomAD:0.2728;SGVEP=ST6GALNAC3|+|NM_001160011|4|c.624-126G>A|.|intronic GT:DP:AD:DP4 0/1:11:6,5:4,2,2,3 1 77042631 119221289 G C 177 off_target VARTYPE=1;BGN=0.000993604;ARL=241;DER=62;DEA=57;QR=36;QA=38;PBP=92;PBM=90;SP=0;TYPE=SNP;DBXREF=dbSNP:rs28439552,g1000:0.1544,esp5400:0.2161,GnomAD_AC_genome:5925,GnomAD_AN_genome:30686,GnomAD:0.1931;SGVEP=ST6GALNAC3|+|NM_152996|4|c.624-50506G>C|.|intronic GT:DP:AD:DP4 0/1:27:19,8:9,10,4,4 1 77093180 119242527 C A 420 PASS VARTYPE=1;BGN=0.00119188;ARL=213;DER=92;DEA=91;QR=38;QA=37;PBP=202;PBM=225;TYPE=SNP;DBXREF=dbSNP:rs1184626,g1000:0.4429,esp5400:0.4768,ExAC:0.4340,PhyloP:0.4330,SIFT:0.0000,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:4.6100,GnomAD_AC_exome:105963,GnomAD_AN_exome:245720,GnomAD_AC_genome:14804,GnomAD_AN_genome:30848,GnomAD:0.4367;SGVEP=ST6GALNAC3|+|NM_152996|4|c.667C>A|p.(Leu223Ile)|missense GT:DP:AD:DP4 0/1:50:31,19:15,16,9,10 1 77094513 119242647 C T 516 off_target VARTYPE=1;BGN=0.00142973;ARL=217;DER=51;DEA=59;QR=38;QA=36;PBP=249;PBM=274;TYPE=SNP;DBXREF=dbSNP:rs147280152,g1000:0.0228,esp5400:0.0317,ExAC:0.0350,GnomAD_AC_exome:8566,GnomAD_AN_exome:241326,GnomAD_AC_genome:879,GnomAD_AN_genome:30892,GnomAD:0.0347;SGVEP=ST6GALNAC3|+|NM_152996|5|c.*22C>T|.|3'UTR GT:DP:AD:DP4 0/1:49:26,23:13,13,11,12 1 78383467 119669754 G A 701 off_target VARTYPE=1;BGN=0.00119188;ARL=219;DEA=60;QA=37;PBP=351;PBM=351;TYPE=SNP;DBXREF=dbSNP:rs1749913,g1000:0.7638,esp5400:0.8229,ExAC:0.8090,GnomAD_AC_exome:193118,GnomAD_AN_exome:239610,GnomAD_AC_genome:24989,GnomAD_AN_genome:30924,GnomAD:0.8062;SGVEP=NEXN|+|NM_001172309|3|c.28-178G>A|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 1 78399207 119674002 C G 369 off_target VARTYPE=1;BGN=0.00119188;ARL=231;DER=51;DEA=35;QR=37;QA=37;PBP=176;PBM=199;TYPE=SNP;DBXREF=dbSNP:rs4483454,g1000:0.6645,esp5400:0.7139,ExAC:0.7350,GnomAD_AC_exome:150001,GnomAD_AN_exome:198610,GnomAD_AC_genome:22009,GnomAD_AN_genome:30860,GnomAD:0.7496;SGVEP=NEXN|+|NM_001172309|9|c.1059+43C>G|.|intronic GT:DP:AD:DP4 0/1:26:11,15:5,6,7,8 1 78399212 119674005 T C 255 off_target VARTYPE=1;BGN=0.00119188;ARL=227;DER=37;DEA=46;QR=37;QA=37;PBP=117;PBM=143;TYPE=SNP;DBXREF=dbSNP:rs41312654,g1000:0.0944,esp5400:0.1011,ExAC:0.0510,GnomAD_AC_exome:9473,GnomAD_AN_exome:180110,GnomAD_AC_genome:2736,GnomAD_AN_genome:30904,GnomAD:0.0579;SGVEP=NEXN|+|NM_001172309|9|c.1059+48T>C|.|intronic GT:DP:AD:DP4 0/1:25:14,11:7,7,5,6 1 85741921 122184399 G C 131 off_target VARTYPE=1;BGN=0.000993604;ARL=256;DER=100;DEA=62;QR=38;QA=38;PBP=68;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2735594,g1000:0.7706,esp5400:0.7934,GnomAD_AC_genome:24761,GnomAD_AN_genome:30896,GnomAD:0.8014;SGVEP=BCL10|-|NM_001320715|1|c.57+58C>G|.|intronic GT:DP:AD:DP4 0/1:22:16,6:8,8,3,3 1 85741968 122184456 G C 313 off_target VARTYPE=1;BGN=0.000993604;ARL=235;DER=114;DEA=68;QR=37;QA=38;PBP=161;PBM=158;TYPE=SNP;DBXREF=dbSNP:rs12562182,g1000:0.0835,esp5400:0.0612,ExAC:0.0920,GnomAD_AC_exome:22806,GnomAD_AN_exome:243908,GnomAD_AC_genome:1941,GnomAD_AN_genome:30910,GnomAD:0.0900;SGVEP=BCL10|-|NM_001320715|1|c.57+11C>G|.|intronic GT:DP:AD:DP4 0/1:42:28,14:13,15,7,7 1 85742157 122184618 G C 201 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=235;DER=58;DEA=15;QR=37;QA=36;PBP=102;PBM=102;TYPE=SNP;DBXREF=dbSNP:rs71585147,g1000:0.1254,GnomAD_AC_genome:2609,GnomAD_AN_genome:30864,GnomAD:0.0845;SGVEP=BCL10|-|NM_001320715|1|c.-122C>G|.|5'UTR GT:DP:AD:DP4 0/1:12:4,8:2,2,4,4 1 86047311 122287269 G C 296 off_target VARTYPE=1;BGN=0.00119188;ARL=243;DER=53;DEA=73;QR=32;QA=37;PBP=152;PBM=149;TYPE=SNP;DBXREF=dbSNP:rs9658584,g1000:0.1304,esp5400:0.1566,ExAC:0.1700,GnomAD_AC_exome:40522,GnomAD_AN_exome:214698,GnomAD_AC_genome:4503,GnomAD_AN_genome:30938,GnomAD:0.1833;SGVEP=CYR61|+|NM_001554|2|c.277+50G>C|.|intronic GT:DP:AD:DP4 0/1:21:9,12:4,5,6,6 1 91447985 123911210 C T 292 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=223;DEA=31;QA=37;PBP=146;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs358691,g1000:0.9545,esp5400:0.9172,GnomAD_AC_genome:27944,GnomAD_AN_genome:30908,GnomAD:0.9041;SGVEP=ZNF644|-|NM_016620|2|c.-39-58G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 92174260 124120480 A G 1617 PASS VARTYPE=1;BGN=0.00142973;ARL=216;DEA=86;QA=36;PBP=852;PBM=767;TYPE=SNP;DBXREF=dbSNP:rs284878,g1000:0.9067,esp5400:0.9366,ExAC:0.9340,GnomAD_AC_exome:229808,GnomAD_AN_exome:246100,GnomAD_AC_genome:28965,GnomAD_AN_genome:30958,GnomAD:0.9340;SGVEP=TGFBR3|-|NM_001195683|14|c.2244T>C|p.(Thr748:)|synonymous GT:DP:AD:DP4 1/1:57:0,57:0,0,30,27 1 92177938 124121451 A G 721 PASS VARTYPE=1;BGN=0.00119188;ARL=224;DER=89;DEA=119;QR=37;QA=37;PBP=355;PBM=374;TYPE=SNP;DBXREF=dbSNP:rs1805113,g1000:0.2798,esp5400:0.4016,ExAC:0.3660,GnomAD_AC_exome:88677,GnomAD_AN_exome:246040,GnomAD_AC_genome:11645,GnomAD_AN_genome:30928,GnomAD:0.3622;SGVEP=TGFBR3|-|NM_001195683|13|c.2025T>C|p.(Phe675:)|synonymous GT:DP:AD:DP4 0/1:88:55,33:26,29,16,17 1 92195601 124129326 G A 121 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=270;DER=60;DEA=106;QR=35;QA=38;PBP=50;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10783002,g1000:0.4259,GnomAD_AC_genome:10994,GnomAD_AN_genome:30840,GnomAD:0.3565;SGVEP=TGFBR3|-|NM_001195683|6|c.569-71C>T|.|intronic GT:DP:AD:DP4 0/1:12:7,5:3,4,2,3 1 92200593 124133313 A G 321 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=247;DEA=30;QA=37;PBP=146;PBM=175;TYPE=SNP;DBXREF=dbSNP:rs11165376,g1000:0.6166,GnomAD_AC_genome:18899,GnomAD_AN_genome:30884,GnomAD:0.6119;SGVEP=TGFBR3|-|NM_001195683|5|c.385-77T>C|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 1 92262874 124149378 T C 524 PASS VARTYPE=1;BGN=0.000993604;ARL=228;DER=89;DEA=86;QR=36;QA=38;PBP=291;PBM=241;TYPE=SNP;DBXREF=dbSNP:rs2810904,g1000:0.7153,esp5400:0.6813,ExAC:0.6630,GnomAD_AC_exome:162217,GnomAD_AN_exome:246026,GnomAD_AC_genome:20449,GnomAD_AN_genome:30910,GnomAD:0.6596;SGVEP=TGFBR3|-|NM_001195683|3|c.216A>G|p.(Ala72:)|synonymous GT:DP:AD:DP4 0/1:76:52,24:26,26,13,11 1 92712266 124291354 C T 584 off_target VARTYPE=1;BGN=0.00119188;ARL=232;DEA=43;QA=37;PBP=263;PBM=321;TYPE=SNP;DBXREF=dbSNP:rs974924,g1000:0.9964,GnomAD_AC_genome:30870,GnomAD_AN_genome:30978,GnomAD:0.9965;SGVEP=GLMN|-|NM_001319683|18|c.1627-63G>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,9,11 1 92712598 124291580 GAAAA GAA 417 off_target VARTYPE=1;BGN=0.0214649;ARL=228;DER=67;DEA=47;QR=35;QA=74;HL=4;PBP=217;PBM=200;TYPE=INDEL;DBXREF=dbSNP:rs397737127,g1000:0.6188,ExAC:0.5230,GnomAD_AC_exome:126662,GnomAD_AN_exome:242180,GnomAD_AC_genome:14394,GnomAD_AN_genome:30814,GnomAD:0.5167;SGVEP=GLMN|-|NM_001319683|17|c.1626+19_1626+20del|.|intronic GT:DP:AD:DP4 0/1:25:12,13:6,6,7,6 1 92735359 124300793 T C 423 off_target VARTYPE=1;BGN=0.00119188;ARL=226;DER=53;DEA=83;QR=37;QA=37;PBP=203;PBM=226;TYPE=SNP;DBXREF=dbSNP:rs1487540,g1000:0.6198,esp5400:0.4614,ExAC:0.5230,GnomAD_AC_exome:126544,GnomAD_AN_exome:240258,GnomAD_AC_genome:14480,GnomAD_AN_genome:30848,GnomAD:0.5202;SGVEP=GLMN|-|NM_001319683|9|c.924-26A>G|.|intronic GT:DP:AD:DP4 0/1:28:11,17:5,6,8,9 1 92755943 124304683 G A 316 off_target VARTYPE=1;BGN=0.00119188;ARL=267;DER=51;DEA=41;QR=37;QA=37;PBP=149;PBM=172;TYPE=SNP;DBXREF=dbSNP:rs3103178,g1000:0.7314,GnomAD_AC_genome:17659,GnomAD_AN_genome:30924,GnomAD:0.5710;SGVEP=GLMN|-|NM_001319683|5|c.286-80C>T|.|intronic GT:DP:AD:DP4 0/1:24:11,13:5,6,6,7 1 92944314 124349448 C CAGAG 120 low_variant_fraction VARTYPE=1;BGN=0.000993604;ARL=221;DER=42;DEA=91;QR=34;QA=147;PBP=52;PBM=72;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs764728437,ExAC:0.0770,clinvar:rs371078453,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_genome:1733,GnomAD_AN_genome:21458,GnomAD:0.0808;SGVEP=GFI1|-|NM_001127215|6|c.925-8_925-5dup|.|intronic GT:DP:AD:DP4 0/1:70:33,7:18,15,3,4 1 92944314 124349472 CAGAGAG C 302 PASS VARTYPE=1;BGN=0.000993604;ARL=221;DER=42;DEA=72;QR=34;QA=210;PBP=119;PBM=190;TYPE=INDEL;DBXREF=dbSNP:rs200902533,ExAC:0.1000,clinvar:rs200902533,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:2689,GnomAD_AN_genome:21458,GnomAD:0.1253;SGVEP=GFI1|-|NM_001127215|6|c.925-10_925-5del|.|intronic GT:DP:AD:DP4 0/1:70:33,15:18,15,6,9 1 92946479 101717 G A 3111 PASS VARTYPE=1;BGN=0.00142973;ARL=225;DEA=94;QA=36;PBP=1390;PBM=1730;TYPE=SNP;DBXREF=dbSNP:rs11164605,g1000:0.9189,esp5400:0.8529,ExAC:0.8170,clinvar:rs11164605,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:129110,GnomAD_AN_exome:149672,GnomAD_AC_genome:25994,GnomAD_AN_genome:30572,GnomAD:0.8605;SGVEP=GFI1|-|NM_001127215|4|c.465C>T|p.(Cys155:)|synonymous GT:DP:AD:DP4 1/1:110:0,110:0,0,49,61 1 92979354 124359918 A G 2773 PASS VARTYPE=1;BGN=0.00142973;ARL=220;DER=65;DEA=102;QR=11;QA=36;PBP=1390;PBM=1390;TYPE=SNP;DBXREF=dbSNP:rs6603979,g1000:0.9203,esp5400:0.8394,ExAC:0.8520,clinvar:rs6603979,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:209857,GnomAD_AN_exome:245810,GnomAD_AC_genome:26225,GnomAD_AN_genome:30750,GnomAD:0.8536;SGVEP=EVI5|-|NM_001308248|19|c.2325T>C|p.(Gly775:)|synonymous GT:DP:AD:DP4 1/1:98:0,98:0,0,49,49 1 93073228 124393272 C A 839 PASS VARTYPE=1;BGN=0.000993604;ARL=213;DER=85;DEA=91;QR=37;QA=38;PBP=411;PBM=437;TYPE=SNP;DBXREF=dbSNP:rs11808092,g1000:0.1234,esp5400:0.2038,ExAC:0.1940,PhyloP:1.3420,SIFT:0.9530,PolyPhen2:0.4390,PolyPhen2_HumDiv:0.5890,LRT:1.0000,MutationTaster:1.0000,GERP:4.6700,clinvar:rs11808092,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:46911,GnomAD_AN_exome:239830,GnomAD_AC_genome:5841,GnomAD_AN_genome:30870,GnomAD:0.1949;SGVEP=EVI5|-|NM_001308248|16|c.1869G>T|p.(Gln623His)|missense GT:DP:AD:DP4 0/1:73:38,35:19,19,17,18 1 93089823 124398935 T C 1399 PASS VARTYPE=1;BGN=0.00119188;ARL=207;DEA=89;QA=37;PBP=701;PBM=701;TYPE=SNP;DBXREF=dbSNP:rs7514716,g1000:0.9491,esp5400:0.9133,ExAC:0.9220,clinvar:rs7514716,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:227337,GnomAD_AN_exome:246142,GnomAD_AC_genome:28361,GnomAD_AN_genome:30928,GnomAD:0.9229;SGVEP=EVI5|-|NM_001308248|15|c.1722A>G|p.(Gln574:)|synonymous GT:DP:AD:DP4 1/1:48:0,48:0,0,24,24 1 93160902 124410377 T C 1048 PASS VARTYPE=1;BGN=0.000993604;ARL=220;DEA=80;QA=38;PBP=510;PBM=540;TYPE=SNP;DBXREF=dbSNP:rs2391199,g1000:0.9503,esp5400:0.9129,ExAC:0.9220,PhyloP:0.4940,SIFT:0.3940,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0000,LRT:0.9890,MutationTaster:0.9880,GERP:2.3000,clinvar:rs2391199,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:226798,GnomAD_AN_exome:245532,GnomAD_AC_genome:28384,GnomAD_AN_genome:30956,GnomAD:0.9229;SGVEP=EVI5|-|NM_001308248|7|c.1006A>G|p.(Ile336Val)|missense GT:DP:AD:DP4 1/1:35:0,35:0,0,17,18 1 93163385 124410926 A G 963 off_target VARTYPE=1;BGN=0.00119188;ARL=221;DEA=41;QA=37;PBP=496;PBM=467;TYPE=SNP;DBXREF=dbSNP:rs7418336,g1000:0.7091,esp5400:0.6007,ExAC:0.6830,GnomAD_AC_exome:159831,GnomAD_AN_exome:232862,GnomAD_AC_genome:19671,GnomAD_AN_genome:30886,GnomAD:0.6806;SGVEP=EVI5|-|NM_001308248|6|c.897+32T>C|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,17,16 1 93163633 124411155 C T 321 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=244;DEA=20;QA=37;PBP=146;PBM=175;TYPE=SNP;DBXREF=dbSNP:rs1017008,g1000:0.9503,GnomAD_AC_genome:28376,GnomAD_AN_genome:30946,GnomAD:0.9170;SGVEP=EVI5|-|NM_001308248|6|c.772-91G>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 1 93167610 124411985 C T 341 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=267;DEA=37;QA=36;PBP=171;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs10218567,g1000:0.9501,GnomAD_AC_genome:26706,GnomAD_AN_genome:29186,GnomAD:0.9150;SGVEP=EVI5|-|NM_001308248|5|c.771+88G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 93167854 124412234 A G 224 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=229;DER=98;DEA=47;QR=38;QA=38;PBP=113;PBM=113;TYPE=SNP;DBXREF=dbSNP:rs10218670,g1000:0.9501,GnomAD_AC_genome:28307,GnomAD_AN_genome:30872,GnomAD:0.9169;SGVEP=EVI5|-|NM_001308248|5|c.697-82T>C|.|intronic GT:DP:AD:DP4 1/1:10:2,8:1,1,4,4 1 93297658 124444590 C G 568 off_target VARTYPE=1;BGN=0.00119188;ARL=228;DER=102;DEA=107;QR=34;QA=37;PBP=271;PBM=304;TYPE=SNP;DBXREF=dbSNP:rs372092314,esp5400:0.0001,ExAC:0.0001,GnomAD_AC_exome:16,GnomAD_AN_exome:244748,GnomAD_AC_genome:3,GnomAD_AN_genome:30972,GnomAD:0.0001;SGVEP=RPL5|+|NM_000969|1|c.-14C>G|.|5'UTR GT:DP:AD:DP4 0/1:58:33,25:18,15,12,13 1 94471075 101956 A G 2646 PASS VARTYPE=1;BGN=0.00119188;ARL=215;DEA=88;QA=37;PBP=1312;PBM=1341;TYPE=SNP;DBXREF=dbSNP:rs1762114,g1000:0.7700,esp5400:0.7766,ExAC:0.8890,clinvar:rs1762114,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:221425,GnomAD_AN_exome:246154,GnomAD_AC_genome:24794,GnomAD_AN_genome:30950,GnomAD:0.8885;SGVEP=ABCA4|-|NM_000350|44|c.6069T>C|p.(Ile2023:)|synonymous GT:DP:AD:DP4 1/1:91:0,91:0,0,45,46 1 94476555 102072 G A 1440 off_target VARTYPE=1;BGN=0.00119188;ARL=235;DER=24;DEA=45;QR=31;QA=37;PBP=671;PBM=774;TYPE=SNP;DBXREF=dbSNP:rs537831,g1000:0.6915,clinvar:rs537831,CLNSIG:not_provided,CLNREVSTAT:no_assertion_provided,GnomAD_AC_genome:20580,GnomAD_AN_genome:30848,GnomAD:0.6671;SGVEP=ABCA4|-|NM_000350|40|c.5585-70C>T|.|intronic GT:DP:AD:DP4 1/1:51:1,50:0,1,23,27 1 94480355 124774284 T C 230 low_coverage;off_target VARTYPE=1;BGN=0.00205729;ARL=277;DER=48;DEA=58;QR=36;QA=34;PBP=117;PBM=117;TYPE=SNP;DBXREF=dbSNP:rs56307710,g1000:0.0533,GnomAD_AC_genome:1963,GnomAD_AN_genome:30956,GnomAD:0.0634;SGVEP=ABCA4|-|NM_000350|38|c.5313-109A>G|.|intronic GT:DP:AD:DP4 0/1:16:6,10:3,3,5,5 1 94487354 102305 G A 3137 off_target VARTYPE=1;BGN=0.00119188;ARL=230;DEA=84;QA=37;PBP=1603;PBM=1544;TYPE=SNP;DBXREF=dbSNP:rs472908,g1000:0.5889,esp5400:0.6289,ExAC:0.5820,clinvar:rs472908,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:143783,GnomAD_AN_exome:245938,GnomAD_AC_genome:19436,GnomAD_AN_genome:30850,GnomAD:0.5897;SGVEP=ABCA4|-|NM_000350|33|c.4773+48C>T|.|intronic GT:DP:AD:DP4 1/1:108:0,108:0,0,55,53 1 94495930 124781911 T C 1164 off_target VARTYPE=1;BGN=0.00142973;ARL=225;DEA=55;QA=36;PBP=597;PBM=568;TYPE=SNP;DBXREF=dbSNP:rs547806,g1000:0.9882,GnomAD_AC_genome:30577,GnomAD_AN_genome:30946,GnomAD:0.9881;SGVEP=ABCA4|-|NM_000350|29|c.4352+54A>G|.|intronic GT:DP:AD:DP4 1/1:41:0,41:0,0,21,20 1 94496446 124782046 T C 287 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=281;DER=33;DEA=31;QR=31;QA=36;PBP=156;PBM=134;TYPE=SNP;DBXREF=dbSNP:rs56253197,g1000:0.0948,GnomAD_AC_genome:3110,GnomAD_AN_genome:30906,GnomAD:0.1006;SGVEP=ABCA4|-|NM_000350|28|c.4253+106A>G|.|intronic GT:DP:AD:DP4 1/1:14:3,11:2,1,6,5 1 94496509 102470 C T 557 off_target VARTYPE=1;BGN=0.00119188;ARL=249;DER=52;DEA=31;QR=36;QA=37;PBP=328;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs61754045,g1000:0.0010,esp5400:0.0020,ExAC:0.0043,clinvar:rs61754045,CLNSIG:not_provided,CLNREVSTAT:no_assertion_provided,GnomAD_AC_exome:1166,GnomAD_AN_exome:245348,GnomAD_AC_genome:139,GnomAD_AN_genome:30958,GnomAD:0.0047;SGVEP=ABCA4|-|NM_000350|28|c.4253+43G>A|.|intronic GT:DP:AD:DP4 0/1:76:50,26:27,23,15,11 1 94544234 103186 T C 388 PASS VARTYPE=1;BGN=0.000993604;ARL=210;DER=57;DEA=67;QR=36;QA=38;PBP=114;PBM=281;TYPE=SNP;DBXREF=dbSNP:rs3112831,g1000:0.2208,esp5400:0.2582,ExAC:0.2550,PhyloP:1.3410,SIFT:0.9190,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.4900,clinvar:rs3112831,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:62855,GnomAD_AN_exome:246254,GnomAD_AC_genome:8034,GnomAD_AN_genome:30822,GnomAD:0.2558;SGVEP=ABCA4|-|NM_000350|10|c.1268A>G|p.(His423Arg)|missense GT:DP:AD:DP4 0/1:46:29,17:11,18,5,12 1 94549029 103292 A G 377 off_target VARTYPE=1;BGN=0.00119188;ARL=218;DER=46;DEA=52;QR=37;QA=37;PBP=207;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs526016,g1000:0.1977,esp5400:0.2415,ExAC:0.2440,clinvar:rs526016,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:59369,GnomAD_AN_exome:243054,GnomAD_AC_genome:7521,GnomAD_AN_genome:30890,GnomAD:0.2442;SGVEP=ABCA4|-|NM_000350|7|c.769-32T>C|.|intronic GT:DP:AD:DP4 0/1:24:9,15:4,5,8,7 1 94549083 124789589 T C 157 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=253;DER=24;DEA=54;QR=38;QA=38;PBP=80;PBM=80;SP=0;TYPE=SNP;DBXREF=dbSNP:rs574741,g1000:0.7454,GnomAD_AC_genome:22807,GnomAD_AN_genome:30902,GnomAD:0.7380;SGVEP=ABCA4|-|NM_000350|7|c.769-86A>G|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 1 94574053 124797143 C A 409 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=247;DEA=64;QA=37;PBP=205;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs11165073,g1000:0.5427,GnomAD_AC_genome:15169,GnomAD_AN_genome:30872,GnomAD:0.4914;SGVEP=ABCA4|-|NM_000350|4|c.442+80G>T|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 1 94576968 103408 T C 1632 off_target VARTYPE=1;BGN=0.00119188;ARL=238;DEA=60;QA=37;PBP=846;PBM=788;TYPE=SNP;DBXREF=dbSNP:rs2297634,g1000:0.5469,esp5400:0.4752,ExAC:0.5180,clinvar:rs2297634,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:126410,GnomAD_AN_exome:243234,GnomAD_AC_genome:15326,GnomAD_AN_genome:30890,GnomAD:0.5171;SGVEP=ABCA4|-|NM_000350|3|c.302+26A>G|.|intronic GT:DP:AD:DP4 1/1:56:0,56:0,0,29,27 1 94578548 103475 T C 1675 PASS VARTYPE=1;BGN=0.000993604;ARL=222;DEA=76;QA=38;PBP=869;PBM=809;TYPE=SNP;DBXREF=dbSNP:rs4847281,g1000:0.9870,esp5400:0.9878,ExAC:0.9960,clinvar:rs4847281,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:245529,GnomAD_AN_exome:246220,GnomAD_AC_genome:30614,GnomAD_AN_genome:30954,GnomAD:0.9963;SGVEP=ABCA4|-|NM_000350|2|c.141A>G|p.(Pro47:)|synonymous GT:DP:AD:DP4 1/1:56:0,56:0,0,29,27 1 94930345 124907327 G A 410 PASS VARTYPE=1;BGN=0.00119188;ARL=214;DER=59;DEA=80;QR=35;QA=37;PBP=211;PBM=206;TYPE=SNP;DBXREF=dbSNP:rs16946,g1000:0.2800,esp5400:0.3720,ExAC:0.3920,clinvar:rs16946,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:97788,GnomAD_AN_exome:245982,GnomAD_AC_genome:10738,GnomAD_AN_genome:30786,GnomAD:0.3921;SGVEP=ABCD3|+|NM_001122674|3|c.162G>A|p.(Lys54:)|synonymous GT:DP:AD:DP4 0/1:42:24,18:11,13,9,9 1 94980671 124924054 C G 642 off_target VARTYPE=1;BGN=0.00119188;ARL=211;DEA=43;QA=37;PBP=321;PBM=321;TYPE=SNP;DBXREF=dbSNP:rs3118109,g1000:0.9836,esp5400:0.9854,ExAC:0.9960,GnomAD_AC_exome:243779,GnomAD_AN_exome:244546,GnomAD_AC_genome:30577,GnomAD_AN_genome:30924,GnomAD:0.9960;SGVEP=ABCD3|+|NM_002858|22|c.1846-31C>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 1 97544771 125557445 T C 934 off_target VARTYPE=1;BGN=0.00119188;ARL=253;DEA=56;QA=37;PBP=438;PBM=496;TYPE=SNP;DBXREF=dbSNP:rs290855,g1000:0.8359,GnomAD_AC_genome:24483,GnomAD_AN_genome:30908,GnomAD:0.7921;SGVEP=DPYD|-|NM_000110|23|c.2908-69A>G|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,15,17 1 97547831 125558408 G A 1198 off_target VARTYPE=1;BGN=0.000993604;ARL=240;DEA=51;QA=38;PBP=600;PBM=600;TYPE=SNP;DBXREF=dbSNP:rs290854,g1000:1.0000,GnomAD_AC_genome:30949,GnomAD_AN_genome:30950,GnomAD:1.0000;SGVEP=DPYD|-|NM_000110|22|c.2907+55C>T|.|intronic GT:DP:AD:DP4 1/1:40:0,40:0,0,20,20 1 97981242 103642 T C 325 off_target VARTYPE=1;BGN=0.00142973;ARL=233;DER=36;DEA=90;QR=38;QA=36;PBP=164;PBM=167;TYPE=SNP;DBXREF=dbSNP:rs2811178,g1000:0.6518,esp5400:0.6042,ExAC:0.6200,clinvar:rs2811178,CLNSIG:not_provided,CLNREVSTAT:no_assertion_provided,GnomAD_AC_exome:144305,GnomAD_AN_exome:226864,GnomAD_AC_genome:18858,GnomAD_AN_genome:30812,GnomAD:0.6332;SGVEP=DPYD|-|NM_000110|13|c.1740+40A>G|.|intronic GT:DP:AD:DP4 0/1:27:13,14:7,6,7,7 1 97981421 103662 C T 734 PASS VARTYPE=1;BGN=0.00119188;ARL=214;DER=74;DEA=74;QR=36;QA=37;PBP=330;PBM=412;TYPE=SNP;DBXREF=dbSNP:rs1801158,g1000:0.0096,esp5400:0.0156,ExAC:0.0140,PhyloP:2.5840,SIFT:0.9930,PolyPhen2:0.9240,PolyPhen2_HumDiv:0.9960,LRT:1.0000,MutationTaster:1.0000,GERP:5.2000,clinvar:rs1801158,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:3578,GnomAD_AN_exome:245306,GnomAD_AC_genome:352,GnomAD_AN_genome:30922,GnomAD:0.0142;SGVEP=DPYD|-|NM_000110|13|c.1601G>A|p.(Ser534Asn)|missense GT:DP:AD:DP4 0/1:60:29,31:15,14,14,17 1 98348885 103753 G A 477 PASS VARTYPE=1;BGN=0.00119188;ARL=201;DER=88;DEA=96;QR=36;QA=37;PBP=242;PBM=242;TYPE=SNP;DBXREF=dbSNP:rs1801265,g1000:0.7398,esp5400:0.7139,ExAC:0.7650,PhyloP:2.7630,SIFT:0.8230,PolyPhen2:0.6630,PolyPhen2_HumDiv:0.9640,LRT:0.9970,MutationTaster:1.0000,GERP:5.8400,clinvar:rs1801265,CLNSIG:not_provided,CLNREVSTAT:no_assertion_provided,GnomAD_AC_exome:189327,GnomAD_AN_exome:245600,GnomAD_AC_genome:22226,GnomAD_AN_genome:30874,GnomAD:0.7652;SGVEP=DPYD|-|NM_000110|2|c.85C>T|p.(Arg29Cys)|missense GT:DP:AD:DP4 0/1:62:40,22:20,20,11,11 1 100316589 103763 A G 817 off_target VARTYPE=1;BGN=0.00119188;ARL=214;DEA=56;QA=37;PBP=409;PBM=409;TYPE=SNP;DBXREF=dbSNP:rs2307130,g1000:0.4271,esp5400:0.4154,ExAC:0.4680,clinvar:rs2307130,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:115659,GnomAD_AN_exome:246208,GnomAD_AC_genome:12827,GnomAD_AN_genome:30908,GnomAD:0.4637;SGVEP=AGL|+|NM_000644|2|c.-8-2A>G|p.(?)|splice_acceptor_-2 GT:DP:AD:DP4 1/1:28:0,28:0,0,14,14 1 100329889 126252275 G C 512 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=239;DEA=82;QA=36;PBP=256;PBM=256;TYPE=SNP;DBXREF=dbSNP:rs535461,g1000:0.7396,GnomAD_AC_genome:22300,GnomAD_AN_genome:30888,GnomAD:0.7220;SGVEP=AGL|+|NM_000028|5|c.461-53G>C|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 1 100335883 126254973 A G 414 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=268;DER=67;DEA=34;QR=26;QA=36;PBP=218;PBM=199;TYPE=SNP;DBXREF=dbSNP:rs903126,g1000:0.3730,GnomAD_AC_genome:11731,GnomAD_AN_genome:30900,GnomAD:0.3796;SGVEP=AGL|+|NM_000028|6|c.665-73A>G|.|intronic GT:DP:AD:DP4 1/1:16:1,15:1,0,8,7 1 100336361 103791 C T 959 PASS VARTYPE=1;BGN=0.000993604;ARL=217;DEA=89;QA=38;PBP=480;PBM=480;TYPE=SNP;DBXREF=dbSNP:rs2230306,g1000:0.7626,esp5400:0.7664,ExAC:0.7220,clinvar:rs2230306,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:175990,GnomAD_AN_exome:245518,GnomAD_AC_genome:23349,GnomAD_AN_genome:30908,GnomAD:0.7211;SGVEP=AGL|+|NM_000028|7|c.894C>T|p.(Leu298:)|synonymous GT:DP:AD:DP4 1/1:32:0,32:0,0,16,16 1 100340225 126257555 G A 1574 off_target VARTYPE=1;BGN=0.00119188;ARL=212;DEA=50;QA=37;PBP=817;PBM=759;TYPE=SNP;DBXREF=dbSNP:rs634880,g1000:0.7434,esp5400:0.7470,ExAC:0.7210,clinvar:rs634880,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:172368,GnomAD_AN_exome:240308,GnomAD_AC_genome:22603,GnomAD_AN_genome:30874,GnomAD:0.7190;SGVEP=AGL|+|NM_000028|8|c.959-18G>A|.|intronic GT:DP:AD:DP4 1/1:54:0,54:0,0,28,26 1 100343153 126259270 A G 254 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=216;DER=10;DEA=84;QR=38;QA=38;PBP=129;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs2291638,g1000:0.2843,esp5400:0.2807,ExAC:0.3440,clinvar:rs2291638,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:85175,GnomAD_AN_exome:242550,GnomAD_AC_genome:9481,GnomAD_AN_genome:30896,GnomAD:0.3462;SGVEP=AGL|+|NM_000028|12|c.1424-44A>G|.|intronic GT:DP:AD:DP4 0/1:18:8,10:4,4,5,5 1 100345409 126260358 C G 286 off_target VARTYPE=1;BGN=0.00119188;ARL=275;DER=64;DEA=58;QR=38;QA=37;PBP=146;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs2392077,g1000:0.5345,GnomAD_AC_genome:15134,GnomAD_AN_genome:30874,GnomAD:0.4902;SGVEP=AGL|+|NM_000028|13|c.1612-70C>G|.|intronic GT:DP:AD:DP4 0/1:24:12,12:6,6,6,6 1 100346741 126261474 T C 1081 off_target VARTYPE=1;BGN=0.00119188;ARL=211;DER=71;DEA=72;QR=37;QA=37;PBP=559;PBM=532;TYPE=SNP;DBXREF=dbSNP:rs3736296,g1000:0.5585,esp5400:0.5005,ExAC:0.5510,clinvar:rs3736296,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:136128,GnomAD_AN_exome:245658,GnomAD_AC_genome:16132,GnomAD_AN_genome:30880,GnomAD:0.5506;SGVEP=AGL|+|NM_000028|15|c.2001+8T>C|.|intronic GT:DP:AD:DP4 0/1:81:36,45:18,18,23,22 1 100353675 126265148 G A 529 off_target VARTYPE=1;BGN=0.00119188;ARL=212;DER=69;DEA=50;QR=37;QA=37;PBP=240;PBM=296;TYPE=SNP;DBXREF=dbSNP:rs555929,g1000:0.6811,esp5400:0.6521,ExAC:0.6890,clinvar:rs555929,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:169486,GnomAD_AN_exome:245360,GnomAD_AC_genome:20662,GnomAD_AN_genome:30880,GnomAD:0.6883;SGVEP=AGL|+|NM_000028|21|c.2812+11G>A|.|intronic GT:DP:AD:DP4 0/1:41:19,22:10,9,10,12 1 100357141 126265952 T A 635 off_target VARTYPE=1;BGN=0.00119188;ARL=227;DER=51;DEA=34;QR=36;QA=37;PBP=323;PBM=319;TYPE=SNP;DBXREF=dbSNP:rs2035961,g1000:0.5343,esp5400:0.4712,ExAC:0.5320,clinvar:rs2035961,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:131888,GnomAD_AN_exome:245756,GnomAD_AC_genome:15085,GnomAD_AN_genome:30842,GnomAD:0.5314;SGVEP=AGL|+|NM_000028|23|c.2950-21T>A|.|intronic GT:DP:AD:DP4 0/1:45:19,26:9,10,13,13 1 100358200 126266262 G A 512 off_target VARTYPE=1;BGN=0.00119188;ARL=236;DER=68;DEA=65;QR=36;QA=37;PBP=246;PBM=273;TYPE=SNP;DBXREF=dbSNP:rs594249,g1000:0.6815,esp5400:0.6524,ExAC:0.6890,clinvar:rs594249,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:167967,GnomAD_AN_exome:242924,GnomAD_AC_genome:20686,GnomAD_AN_genome:30902,GnomAD:0.6890;SGVEP=AGL|+|NM_000028|24|c.3259+37G>A|.|intronic GT:DP:AD:DP4 0/1:37:16,21:8,8,10,11 1 100376448 126275145 G A 284 off_target VARTYPE=1;BGN=0.00119188;ARL=231;DER=33;DEA=60;QR=37;QA=37;PBP=136;PBM=154;TYPE=SNP;DBXREF=dbSNP:rs2274570,g1000:0.4613,esp5400:0.4561,ExAC:0.4670,clinvar:rs2274570,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:112614,GnomAD_AN_exome:233718,GnomAD_AC_genome:14564,GnomAD_AN_genome:30640,GnomAD:0.4811;SGVEP=AGL|+|NM_000028|28|c.3836+45G>A|.|intronic GT:DP:AD:DP4 0/1:37:24,13:10,14,6,7 1 100376456 126275180 T A 251 off_target VARTYPE=1;BGN=0.000993604;ARL=246;DER=33;DEA=62;QR=36;QA=38;PBP=117;PBM=139;TYPE=SNP;DBXREF=dbSNP:rs1541041,g1000:0.4599,GnomAD_AC_genome:14568,GnomAD_AN_genome:30676,GnomAD:0.4749;SGVEP=AGL|+|NM_000028|28|c.3836+53T>A|.|intronic GT:DP:AD:DP4 0/1:31:20,11:9,11,5,6 1 100672060 103932 T C 2745 PASS VARTYPE=1;BGN=0.00142973;ARL=212;DEA=90;QA=36;PBP=1305;PBM=1447;TYPE=SNP;DBXREF=dbSNP:rs12021720,g1000:0.8918,esp5400:0.8584,ExAC:0.9140,PhyloP:1.4950,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0010,GERP:4.4000,clinvar:rs12021720,CLNSIG:Benign/Likely_benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:226027,GnomAD_AN_exome:246248,GnomAD_AC_genome:27300,GnomAD_AN_genome:30932,GnomAD:0.9139;SGVEP=DBT|-|NM_001918|9|c.1150A>G|p.(Ser384Gly)|missense GT:DP:AD:DP4 1/1:97:0,97:0,0,46,51 1 100715454 126335690 G A 875 off_target VARTYPE=1;BGN=0.00119188;ARL=220;DEA=37;QA=37;PBP=409;PBM=467;TYPE=SNP;DBXREF=dbSNP:rs3806235,g1000:0.7250,GnomAD_AC_genome:22501,GnomAD_AN_genome:30888,GnomAD:0.7285;SGVEP=DBT|-|NM_001918|1|.|.|intergenic GT:DP:AD:DP4 1/1:30:0,30:0,0,14,16 1 101190173 126454790 C T 929 off_target VARTYPE=1;BGN=0.000993604;ARL=221;DEA=71;QA=38;PBP=480;PBM=450;TYPE=SNP;DBXREF=dbSNP:rs2392221,g1000:0.1402,esp5400:0.1239,ExAC:0.1590,GnomAD_AC_exome:41061,GnomAD_AN_exome:243070,GnomAD_AC_genome:4100,GnomAD_AN_genome:30822,GnomAD:0.1649;SGVEP=VCAM1|+|NM_001078|4|c.662-7C>T|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,16,15 1 101199979 126455443 A G 321 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=236;DEA=34;QA=37;PBP=175;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs3176875,g1000:0.9141,GnomAD_AC_genome:28848,GnomAD_AN_genome:30944,GnomAD:0.9323;SGVEP=VCAM1|+|NM_001078|8|c.1793-79A>G|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 1 101203698 126455667 C T 240 PASS VARTYPE=1;BGN=0.00119188;ARL=239;DER=111;DEA=78;QR=37;QA=37;PBP=111;PBM=134;TYPE=SNP;DBXREF=dbSNP:rs3176878,g1000:0.1292,esp5400:0.1624,ExAC:0.1570,GnomAD_AC_exome:39668,GnomAD_AN_exome:245632,GnomAD_AC_genome:4825,GnomAD_AN_genome:30918,GnomAD:0.1609;SGVEP=VCAM1|+|NM_001078|9|c.2079C>T|p.(Asp693:)|synonymous GT:DP:AD:DP4 0/1:32:21,11:10,11,5,6 1 101203827 126455692 G A 719 PASS VARTYPE=1;BGN=0.000993604;ARL=248;DEA=58;QA=38;PBP=330;PBM=390;TYPE=SNP;DBXREF=dbSNP:rs3176879,g1000:0.8712,esp5400:0.8814,ExAC:0.9370,GnomAD_AC_exome:231397,GnomAD_AN_exome:245598,GnomAD_AC_genome:27487,GnomAD_AN_genome:30928,GnomAD:0.9362;SGVEP=VCAM1|+|NM_001078|9|c.2208G>A|p.(Lys736:)|synonymous GT:DP:AD:DP4 1/1:24:0,24:0,0,11,13 1 103352451 127126064 A G 1515 PASS VARTYPE=1;BGN=0.00119188;ARL=227;DEA=109;QA=37;PBP=788;PBM=730;TYPE=SNP;DBXREF=dbSNP:rs2229783,g1000:0.4846,esp5400:0.4450,ExAC:0.5800,clinvar:rs2229783,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:146249,GnomAD_AN_exome:245964,GnomAD_AC_genome:15143,GnomAD_AN_genome:30852,GnomAD:0.5830;SGVEP=COL11A1|-|NM_001190709|62|c.4653T>C|p.(Ile1551:)|synonymous GT:DP:AD:DP4 1/1:52:0,52:0,0,27,25 1 103354138 104073 A G 263 low_coverage VARTYPE=1;BGN=0.00119188;ARL=239;DEA=50;QA=37;PBP=146;PBM=117;TYPE=SNP;DBXREF=dbSNP:rs1676486,g1000:0.7829,esp5400:0.8060,ExAC:0.7940,PhyloP:1.4200,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.3990,GERP:5.6700,clinvar:rs1676486,CLNSIG:Benign|risk_factor,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:196319,GnomAD_AN_exome:245546,GnomAD_AC_genome:25121,GnomAD_AN_genome:30932,GnomAD:0.8009;SGVEP=COL11A1|-|NM_001190709|61|c.4486T>C|p.(Ser1496Pro)|missense GT:DP:AD:DP4 1/1:9:0,9:0,0,5,4 1 103428389 127152324 G A 689 off_target VARTYPE=1;BGN=0.000993604;ARL=248;DEA=44;QA=38;PBP=330;PBM=360;TYPE=SNP;DBXREF=dbSNP:rs1841834,g1000:0.9487,GnomAD_AC_genome:29224,GnomAD_AN_genome:30960,GnomAD:0.9439;SGVEP=COL11A1|-|NM_001190709|38|c.2800-73C>T|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,11,12 1 103444679 127155143 T G 390 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=219;DEA=70;QA=38;PBP=180;PBM=210;TYPE=SNP;DBXREF=dbSNP:rs11164649,g1000:0.6292,esp5400:0.5484,ExAC:0.6890,clinvar:rs11164649,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:170946,GnomAD_AN_exome:245280,GnomAD_AC_genome:18201,GnomAD_AN_genome:30914,GnomAD:0.6848;SGVEP=COL11A1|-|NM_001190709|32|c.2494-19A>C|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 1 103455217 127172365 C T 380 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=234;DEA=55;QA=37;PBP=175;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs1463034,g1000:0.8071,GnomAD_AC_genome:25396,GnomAD_AN_genome:30860,GnomAD:0.8229;SGVEP=COL11A1|-|NM_001190709|28|c.2224-90G>A|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 1 103461508 127174789 T A 671 off_target VARTYPE=1;BGN=0.00119188;ARL=223;DEA=93;QA=37;PBP=321;PBM=351;TYPE=SNP;DBXREF=dbSNP:rs2622867,g1000:0.9239,esp5400:0.9056,ExAC:0.9530,clinvar:rs2622867,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:235315,GnomAD_AN_exome:245936,GnomAD_AC_genome:28444,GnomAD_AN_genome:30928,GnomAD:0.9527;SGVEP=COL11A1|-|NM_001190709|26|c.2178+37A>T|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,11,12 1 103463976 127175646 G T 426 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=210;DEA=41;QA=36;PBP=199;PBM=227;TYPE=SNP;DBXREF=dbSNP:rs2622870,g1000:0.8494,esp5400:0.8866,GnomAD_AC_genome:26608,GnomAD_AN_genome:30706,GnomAD:0.8665;SGVEP=COL11A1|-|NM_001190709|24|c.2026-57C>A|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,7,8 1 103467615 127176619 C T 496 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=264;DEA=58;QA=37;PBP=234;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs2929162,g1000:0.9241,GnomAD_AC_genome:28422,GnomAD_AN_genome:30894,GnomAD:0.9200;SGVEP=COL11A1|-|NM_001190709|23|c.1981-90G>A|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,8,9 1 103471456 104148 CCAT C 1373 off_target VARTYPE=1;BGN=0.000993604;ARL=230;DER=14;DEA=117;QR=37;QA=108;PBP=691;PBM=691;TYPE=INDEL;DBXREF=dbSNP:rs71752747,ExAC:0.7660,clinvar:rs71752747,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:154564,GnomAD_AN_exome:192088,GnomAD_AC_genome:23164,GnomAD_AN_genome:30314,GnomAD:0.7991;SGVEP=COL11A1|-|NM_001190709|17|c.1675-12_1675-10del|.|intronic GT:DP:AD:DP4 1/1:62:8,50:4,4,25,25 1 103471734 127178976 A AAAATAAATAAAT 178 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=235;DER=42;DEA=109;QR=37;QA=449;PBP=77;PBM=105;SP=1;NVF=0.93;TYPE=INDEL;DBXREF=dbSNP:rs71592255,GnomAD_AC_genome:11407,GnomAD_AN_genome:26992,GnomAD:0.4226;SGVEP=COL11A1|-|NM_001190709|16|c.1621-69_1621-58dup|.|intronic GT:DP:AD:DP4 0/1:13:6,7:3,3,3,4 1 103483514 127183374 C T 292 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=226;DEA=32;QA=37;PBP=146;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs945748,g1000:0.6390,GnomAD_AC_genome:18450,GnomAD_AN_genome:30898,GnomAD:0.5971;SGVEP=COL11A1|-|NM_001190709|10|c.1234-76G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 103496620 127188215 G T 934 off_target VARTYPE=1;BGN=0.00119188;ARL=220;DEA=43;QA=37;PBP=496;PBM=438;TYPE=SNP;DBXREF=dbSNP:rs7523441,g1000:0.9431,esp5400:0.9206,ExAC:0.9590,GnomAD_AC_exome:234094,GnomAD_AN_exome:243574,GnomAD_AC_genome:28980,GnomAD_AN_genome:30908,GnomAD:0.9584;SGVEP=COL11A1|-|NM_001190709|5|c.780+52C>A|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,17,15 1 103548319 127208541 C G 846 off_target VARTYPE=1;BGN=0.00119188;ARL=194;DEA=29;QA=37;PBP=438;PBM=409;TYPE=SNP;DBXREF=dbSNP:rs11164662,g1000:0.5763,esp5400:0.4549,ExAC:0.5650,clinvar:rs11164662,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:130653,GnomAD_AN_exome:221164,GnomAD_AC_genome:14882,GnomAD_AN_genome:30802,GnomAD:0.5776;SGVEP=COL11A1|-|NM_001190709|2|c.274+42G>C|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,15,14 1 103573547 127218946 G A 1132 off_target VARTYPE=1;BGN=0.00171504;ARL=230;DEA=31;QA=35;PBP=553;PBM=580;TYPE=SNP;DBXREF=dbSNP:rs6691654,g1000:0.8716,GnomAD_AC_genome:25043,GnomAD_AN_genome:28428,GnomAD:0.8809;SGVEP=COL11A1|-|NM_001190709|1|c.106+82C>T|.|intronic GT:DP:AD:DP4 1/1:41:0,41:0,0,20,21 1 107979396 128559469 A C 2241 PASS VARTYPE=1;BGN=0.00119188;ARL=224;DEA=82;QA=37;PBP=1079;PBM=1167;TYPE=SNP;DBXREF=dbSNP:rs480392,g1000:0.9503,esp5400:0.9559,ExAC:0.9860,GnomAD_AC_exome:242582,GnomAD_AN_exome:245382,GnomAD_AC_genome:29578,GnomAD_AN_genome:30952,GnomAD:0.9849;SGVEP=NTNG1|+|NM_001113226|6|c.1365A>C|p.(Gly455:)|synonymous GT:DP:AD:DP4 1/1:77:0,77:0,0,37,40 1 108023589 128578581 A C 111 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=252;DER=22;DEA=16;QR=34;QA=36;PBP=47;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4915045,g1000:0.0931,ExAC:0.0230,GnomAD_AC_exome:6171,GnomAD_AN_exome:69120,GnomAD_AC_genome:2240,GnomAD_AN_genome:30960,GnomAD:0.0840;SGVEP=NTNG1|+|NM_001113226|7|c.*127A>C|.|3'UTR GT:DP:AD:DP4 0/1:13:8,5:3,5,2,3 1 109466539 . G C 143 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=252;DER=17;DEA=33;QR=36;QA=35;PBP=125;PBM=23;SP=3;TYPE=SNP;SGVEP=GPSM2|+|NM_001321038|14|c.1601-83G>C|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,5,1 1 109792735 129086398 A ACGC 497 low_coverage VARTYPE=1;BGN=0.000993604;ARL=247;DEA=60;QA=113;PBP=330;PBM=172;TYPE=INDEL;DBXREF=dbSNP:rs144034706,g1000:0.5683,GnomAD_AC_exome:108893,GnomAD_AN_exome:170672,GnomAD_AC_genome:18816,GnomAD_AN_genome:30012,GnomAD:0.6364;SGVEP=CELSR2|+|NM_001408|1|c.47_49dup|p.(Pro16dup)|inframe_3 GT:DP:AD:DP4 1/1:18:0,17:0,0,11,6 1 109794252 129087576 T C 2646 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DEA=102;QA=37;PBP=1341;PBM=1312;TYPE=SNP;DBXREF=dbSNP:rs454107,g1000:0.9020,esp5400:0.8972,ExAC:0.9470,GnomAD_AC_exome:233875,GnomAD_AN_exome:246232,GnomAD_AC_genome:28028,GnomAD_AN_genome:30894,GnomAD:0.9451;SGVEP=CELSR2|+|NM_001408|1|c.1551T>C|p.(Ser517:)|synonymous GT:DP:AD:DP4 1/1:91:0,91:0,0,46,45 1 109795026 129088091 T C 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=234;DEA=105;QA=37;PBP=1603;PBM=1690;TYPE=SNP;DBXREF=dbSNP:rs413380,g1000:0.9020,esp5400:0.8971,ExAC:0.9460,GnomAD_AC_exome:233509,GnomAD_AN_exome:245844,GnomAD_AC_genome:28048,GnomAD_AN_genome:30914,GnomAD:0.9451;SGVEP=CELSR2|+|NM_001408|1|c.2325T>C|p.(Tyr775:)|synonymous GT:DP:AD:DP4 1/1:113:0,113:0,0,55,58 1 109795608 129089011 T C 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=232;DEA=114;QA=37;PBP=1748;PBM=1777;TYPE=SNP;DBXREF=dbSNP:rs437444,g1000:0.9143,esp5400:0.9113,ExAC:0.9500,GnomAD_AC_exome:233671,GnomAD_AN_exome:245266,GnomAD_AC_genome:28441,GnomAD_AN_genome:30918,GnomAD:0.9490;SGVEP=CELSR2|+|NM_001408|1|c.2907T>C|p.(Phe969:)|synonymous GT:DP:AD:DP4 1/1:121:0,121:0,0,60,61 1 109805950 129092249 A T 436 off_target VARTYPE=1;BGN=0.00119188;ARL=252;DER=74;DEA=73;QR=37;QA=37;PBP=183;PBM=260;TYPE=SNP;DBXREF=dbSNP:rs183230549,g1000:0.0014,GnomAD_AC_genome:220,GnomAD_AN_genome:30904,GnomAD:0.0071;SGVEP=CELSR2|+|NM_001408|8|c.4834+61A>T|.|intronic GT:DP:AD:DP4 0/1:43:24,19:12,12,8,11 1 109806442 129092501 C A 1022 off_target VARTYPE=1;BGN=0.00142973;ARL=239;DEA=56;QA=36;PBP=455;PBM=568;TYPE=SNP;DBXREF=dbSNP:rs1337248,g1000:0.4892,esp5400:0.4790,ExAC:0.5450,GnomAD_AC_exome:124529,GnomAD_AN_exome:223554,GnomAD_AC_genome:15538,GnomAD_AN_genome:30844,GnomAD:0.5506;SGVEP=CELSR2|+|NM_001408|9|c.5001+43C>A|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,16,20 1 109806834 129092745 C T 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=230;DEA=109;QA=37;PBP=2646;PBM=2617;TYPE=SNP;DBXREF=dbSNP:rs6698843,g1000:0.3534,esp5400:0.3491,ExAC:0.4280,GnomAD_AC_exome:107288,GnomAD_AN_exome:245126,GnomAD_AC_genome:11015,GnomAD_AN_genome:30862,GnomAD:0.4287;SGVEP=CELSR2|+|NM_001408|10|c.5136C>T|p.(Pro1712:)|synonymous GT:DP:AD:DP4 1/1:181:0,181:0,0,91,90 1 109807099 129093110 G A 2971 PASS VARTYPE=1;BGN=0.00142973;ARL=229;DEA=92;QA=36;PBP=1419;PBM=1560;TYPE=SNP;DBXREF=dbSNP:rs6689614,g1000:0.3530,esp5400:0.3478,ExAC:0.4280,GnomAD_AC_exome:107292,GnomAD_AN_exome:245790,GnomAD_AC_genome:10989,GnomAD_AN_genome:30826,GnomAD:0.4276;SGVEP=CELSR2|+|NM_001408|11|c.5313G>A|p.(Pro1771:)|synonymous GT:DP:AD:DP4 1/1:105:0,105:0,0,50,55 1 109813020 129097098 G A 1864 off_target VARTYPE=1;BGN=0.00119188;ARL=223;DEA=44;QA=37;PBP=963;PBM=905;TYPE=SNP;DBXREF=dbSNP:rs3895559,g1000:0.4187,esp5400:0.4236,ExAC:0.4450,GnomAD_AC_exome:109950,GnomAD_AN_exome:244428,GnomAD_AC_genome:13006,GnomAD_AN_genome:30844,GnomAD:0.4467;SGVEP=CELSR2|+|NM_001408|24|c.7309-28G>A|.|intronic GT:DP:AD:DP4 1/1:64:0,64:0,0,33,31 1 109813236 129097424 TTCCCAGTCTTGGGG T 1774 off_target VARTYPE=1;BGN=0.000993604;ARL=248;DER=20;DEA=79;QR=37;QA=499;PBP=882;PBM=902;NVF=0.99;TYPE=INDEL;DBXREF=dbSNP:rs781309977,g1000:0.3804,ExAC:0.4210,GnomAD_AC_exome:103784,GnomAD_AN_exome:239308,GnomAD_AC_genome:11527,GnomAD_AN_genome:30788,GnomAD:0.4269;SGVEP=CELSR2|+|NM_001408|24|c.7483+20_7483+33del|.|intronic GT:DP:AD:DP4 1/1:72:9,63:4,5,31,32 1 109816176 129099480 A C 2745 PASS VARTYPE=1;BGN=0.00142973;ARL=224;DEA=100;QA=36;PBP=1390;PBM=1362;TYPE=SNP;DBXREF=dbSNP:rs441853,g1000:0.9698,esp5400:0.9762,ExAC:0.9900,GnomAD_AC_exome:179674,GnomAD_AN_exome:180676,GnomAD_AC_genome:30030,GnomAD_AN_genome:30764,GnomAD:0.9918;SGVEP=CELSR2|+|NM_001408|33|c.8628A>C|p.(Gly2876:)|synonymous GT:DP:AD:DP4 1/1:97:0,97:0,0,49,48 1 109883576 129117679 C CAT 269 off_target VARTYPE=1;BGN=0.000993604;ARL=253;DER=18;DEA=78;QR=34;QA=75;PBP=123;PBM=150;TYPE=INDEL;DBXREF=dbSNP:rs3217347,g1000:0.7406,GnomAD_AC_genome:20894,GnomAD_AN_genome:30802,GnomAD:0.6783;SGVEP=SORT1|-|NM_001205228|10|c.698-76_698-75insAT|.|intronic GT:DP:AD:DP4 0/1:23:12,11:6,6,5,6 1 109884775 129117883 T G 400 PASS VARTYPE=1;BGN=0.000993604;ARL=220;DER=57;DEA=64;QR=36;QA=38;PBP=178;PBM=229;TYPE=SNP;DBXREF=dbSNP:rs2228604,g1000:0.6855,esp5400:0.6205,ExAC:0.7280,GnomAD_AC_exome:182050,GnomAD_AN_exome:245478,GnomAD_AC_genome:19609,GnomAD_AN_genome:30902,GnomAD:0.7296;SGVEP=SORT1|-|NM_001205228|9|c.558A>C|p.(Thr186:)|synonymous GT:DP:AD:DP4 0/1:54:36,18:18,18,8,10 1 109897103 129132400 A G 1153 PASS VARTYPE=1;BGN=0.00119188;ARL=205;DER=74;DEA=83;QR=38;QA=37;PBP=583;PBM=580;TYPE=SNP;DBXREF=dbSNP:rs11142,g1000:0.7764,esp5400:0.7071,ExAC:0.7530,GnomAD_AC_exome:187236,GnomAD_AN_exome:245886,GnomAD_AC_genome:22000,GnomAD_AN_genome:30912,GnomAD:0.7559;SGVEP=SORT1|-|NM_001205228|5|c.186T>C|p.(Phe62:)|synonymous GT:DP:AD:DP4 0/1:105:55,50:27,28,25,25 1 109940503 129140158 G C 689 PASS VARTYPE=1;BGN=0.00171504;ARL=223;DER=72;DEA=81;QR=36;QA=35;PBP=321;PBM=376;TYPE=SNP;DBXREF=dbSNP:rs72646553,g1000:0.1540,esp5400:0.0733,ExAC:0.1080,GnomAD_AC_exome:5042,GnomAD_AN_exome:23376,GnomAD_AC_genome:5363,GnomAD_AN_genome:28130,GnomAD:0.2020;SGVEP=SORT1|-|NM_002959|1|c.12C>G|p.(Pro4:)|synonymous GT:DP:AD:DP4 0/1:59:28,31:11,17,14,17 1 110091271 129192875 C T 1462 off_target VARTYPE=1;BGN=0.00171504;ARL=242;DEA=50;QA=35;PBP=884;PBM=580;TYPE=SNP;DBXREF=dbSNP:rs3737182,g1000:0.2270,GnomAD_AC_genome:5756,GnomAD_AN_genome:30918,GnomAD:0.1862;SGVEP=GNAI3|+|NM_006496|1|c.-72C>T|.|5'UTR GT:DP:AD:DP4 1/1:53:0,53:0,0,32,21 1 110153198 129207927 G A 671 off_target VARTYPE=1;BGN=0.00119188;ARL=228;DEA=80;QA=37;PBP=351;PBM=321;TYPE=SNP;DBXREF=dbSNP:rs6658641,g1000:0.1216,esp5400:0.1497,GnomAD_AC_genome:3988,GnomAD_AN_genome:30928,GnomAD:0.1289;SGVEP=GNAT2|-|NM_005272|2|c.119-69C>T|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,12,11 1 110155524 129208477 T C 2153 off_target VARTYPE=1;BGN=0.00142973;ARL=228;DEA=52;QA=36;PBP=1079;PBM=1079;TYPE=SNP;DBXREF=dbSNP:rs2304355,g1000:0.1206,esp5400:0.1343,ExAC:0.1530,clinvar:rs2304355,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:37609,GnomAD_AN_exome:245148,GnomAD_AC_genome:3994,GnomAD_AN_genome:30920,GnomAD:0.1507;SGVEP=GNAT2|-|NM_005272|1|c.-32A>G|.|5'UTR GT:DP:AD:DP4 1/1:76:0,76:0,0,38,38 1 110232087 129231383 C T 295 low_coverage;off_target VARTYPE=1;BGN=0.00205729;ARL=275;DEA=35;QA=34;PBP=134;PBM=161;TYPE=SNP;DBXREF=dbSNP:rs4147566,g1000:0.1470,GnomAD_AC_genome:2702,GnomAD_AN_genome:15736,GnomAD:0.1717;SGVEP=GSTM1|+|NM_000561|5|c.360+140C>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 1 110279701 129252029 C T 401 PASS VARTYPE=1;BGN=0.00119188;ARL=204;DER=66;DEA=45;QR=37;QA=37;PBP=204;PBM=204;TYPE=SNP;DBXREF=dbSNP:rs7483,g1000:0.3606,esp5400:0.2322,ExAC:0.3410,PhyloP:-0.7860,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.3160,MutationTaster:0.0000,GERP:-5.2500,GnomAD_AC_exome:86233,GnomAD_AN_exome:246138,GnomAD_AC_genome:8504,GnomAD_AN_genome:30930,GnomAD:0.3419;SGVEP=GSTM3|-|NM_000849|9|c.670G>A|p.(Val224Ile)|missense GT:DP:AD:DP4 0/1:46:28,18:14,14,9,9 1 110279821 129252113 C A 1079 off_target VARTYPE=1;BGN=0.00119188;ARL=230;DEA=70;QA=37;PBP=584;PBM=496;TYPE=SNP;DBXREF=dbSNP:rs1537234,g1000:0.4868,esp5400:0.3490,ExAC:0.4640,GnomAD_AC_exome:115652,GnomAD_AN_exome:244900,GnomAD_AC_genome:12258,GnomAD_AN_genome:30900,GnomAD:0.4638;SGVEP=GSTM3|-|NM_000849|9|c.580-30G>T|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,20,17 1 110281941 129252966 G A 438 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=272;DEA=47;QA=37;PBP=234;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs10735234,g1000:0.7484,GnomAD_AC_genome:21095,GnomAD_AN_genome:30922,GnomAD:0.6822;SGVEP=GSTM3|-|NM_000849|4|c.189+110C>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 1 110282972 129253663 G T 817 PASS VARTYPE=1;BGN=0.00119188;ARL=235;DEA=60;QA=37;PBP=438;PBM=380;TYPE=SNP;DBXREF=dbSNP:rs1332018,g1000:0.7414,esp5400:0.6274,ExAC:0.6120,GnomAD_AC_exome:128660,GnomAD_AN_exome:202816,GnomAD_AC_genome:20640,GnomAD_AN_genome:30864,GnomAD:0.6389;SGVEP=GSTM3|-|NM_000849|2|c.-63C>A|.|5'UTR GT:DP:AD:DP4 1/1:28:0,28:0,0,15,13 1 110466338 129311375 C A 2971 PASS VARTYPE=1;BGN=0.00142973;ARL=216;DEA=107;QA=36;PBP=1503;PBM=1475;TYPE=SNP;DBXREF=dbSNP:rs333970,g1000:0.4301,esp5400:0.4603,ExAC:0.5560,GnomAD_AC_exome:139145,GnomAD_AN_exome:244900,GnomAD_AC_genome:14941,GnomAD_AN_genome:30786,GnomAD:0.5589;SGVEP=CSF1|+|NM_000757|6|c.1095C>A|p.(Thr365:)|synonymous GT:DP:AD:DP4 1/1:105:0,105:0,0,53,52 1 110466709 129311874 T C 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=210;DEA=99;QA=37;PBP=1980;PBM=1980;TYPE=SNP;DBXREF=dbSNP:rs333971,g1000:0.9968,esp5400:0.9968,ExAC:0.9990,PhyloP:0.7000,SIFT:0.3940,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0020,LRT:0.9550,MutationTaster:0.0000,GERP:4.5700,GnomAD_AC_exome:245867,GnomAD_AN_exome:246058,GnomAD_AC_genome:30862,GnomAD_AN_genome:30954,GnomAD:0.9990;SGVEP=CSF1|+|NM_000757|6|c.1466T>C|p.(Phe489Ser)|missense GT:DP:AD:DP4 1/1:136:0,136:0,0,68,68 1 110467745 129312352 A G 1021 off_target VARTYPE=1;BGN=0.00119188;ARL=229;DEA=78;QA=37;PBP=496;PBM=526;TYPE=SNP;DBXREF=dbSNP:rs333972,g1000:0.9968,esp5400:0.9968,ExAC:0.9990,GnomAD_AC_exome:246069,GnomAD_AN_exome:246260,GnomAD_AC_genome:30820,GnomAD_AN_genome:30912,GnomAD:0.9990;SGVEP=CSF1|+|NM_000757|8|c.1623-24A>G|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,17,18 1 110603286 129346745 A G 249 off_target VARTYPE=1;BGN=0.00142973;ARL=229;DER=78;DEA=18;QR=33;QA=36;PBP=111;PBM=144;TYPE=SNP;DBXREF=dbSNP:rs4520416,g1000:0.0014;SGVEP=ALX3|-|NM_006492|4|c.*69T>C|.|3'UTR GT:DP:AD:DP4 0/1:24:12,11:7,5,5,6 1 110612925 129348080 G A 470 off_target VARTYPE=1;BGN=0.00119188;ARL=230;DER=53;DEA=57;QR=36;QA=37;PBP=263;PBM=213;TYPE=SNP;DBXREF=dbSNP:rs2274568,g1000:0.6933,esp5400:0.6698,ExAC:0.6270,GnomAD_AC_exome:55818,GnomAD_AN_exome:87116,GnomAD_AC_genome:19666,GnomAD_AN_genome:30570,GnomAD:0.6414;SGVEP=ALX3|-|NM_006492|1|c.277+33C>T|.|intronic GT:DP:AD:DP4 0/1:41:21,20:11,10,11,9 1 110882444 129416147 A G 1123 PASS VARTYPE=1;BGN=0.00142973;ARL=227;DER=108;DEA=107;QR=36;QA=36;PBP=561;PBM=573;TYPE=SNP;DBXREF=dbSNP:rs814771,g1000:0.8229,esp5400:0.7931,ExAC:0.7570,GnomAD_AC_exome:181623,GnomAD_AN_exome:239406,GnomAD_AC_genome:24484,GnomAD_AN_genome:30892,GnomAD:0.7625;SGVEP=RBM15|+|NM_001201545|1|c.417A>G|p.(Glu139:)|synonymous GT:DP:AD:DP4 0/1:112:61,51:28,33,25,26 1 110993739 129449694 C A 250 low_coverage;off_target VARTYPE=1;BGN=0.00142973;ARL=256;DER=19;DEA=55;QR=34;QA=36;PBP=151;PBM=102;TYPE=SNP;DBXREF=dbSNP:rs3806451,g1000:0.2041,GnomAD_AC_genome:6603,GnomAD_AN_genome:30892,GnomAD:0.2137;SGVEP=PROK1|+|NM_032414|1|.|.|intergenic GT:DP:AD:DP4 0/1:15:5,10:3,2,6,4 1 111854207 129650908 T C 202 off_target VARTYPE=1;BGN=0.00171504;ARL=237;DER=44;DEA=37;QR=37;QA=35;PBP=104;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs4839122,g1000:0.6867,GnomAD_AC_genome:21099,GnomAD_AN_genome:30890,GnomAD:0.6830;SGVEP=CHIA|+|NM_001040623|3|c.-90-104T>C|.|intronic GT:DP:AD:DP4 0/1:30:20,10:10,10,5,5 1 111854223 129650911 C T 305 off_target VARTYPE=1;BGN=0.00119188;ARL=227;DER=49;DEA=39;QR=37;QA=37;PBP=156;PBM=156;TYPE=SNP;DBXREF=dbSNP:rs6537695,g1000:0.5779,GnomAD_AC_genome:17208,GnomAD_AN_genome:30892,GnomAD:0.5570;SGVEP=CHIA|+|NM_001040623|3|c.-90-88C>T|.|intronic GT:DP:AD:DP4 0/1:40:26,14:13,13,7,7 1 111854755 129651030 A C 1137 off_target VARTYPE=1;BGN=0.00119188;ARL=231;DEA=57;QA=37;PBP=613;PBM=526;TYPE=SNP;DBXREF=dbSNP:rs4423003,g1000:0.9581,GnomAD_AC_genome:29764,GnomAD_AN_genome:30962,GnomAD:0.9613;SGVEP=CHIA|+|NM_001040623|3|c.-61+415A>C|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,21,18 1 111857087 129651392 C T 480 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=264;DEA=57;QA=38;PBP=240;PBM=240;TYPE=SNP;DBXREF=dbSNP:rs2786151,g1000:0.5561,GnomAD_AC_genome:16753,GnomAD_AN_genome:30876,GnomAD:0.5426;SGVEP=CHIA|+|NM_001040623|4|c.-60-75C>T|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 1 111857154 129651419 T C 817 off_target VARTYPE=1;BGN=0.00119188;ARL=257;DEA=100;QA=37;PBP=409;PBM=409;TYPE=SNP;DBXREF=dbSNP:rs2786152,g1000:0.6558,esp5400:0.7190,ExAC:0.6530,GnomAD_AC_exome:157218,GnomAD_AN_exome:245854,GnomAD_AC_genome:21338,GnomAD_AN_genome:30894,GnomAD:0.6452;SGVEP=CHIA|+|NM_001040623|4|c.-60-8T>C|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,14,14 1 111861714 129652398 T A 788 off_target VARTYPE=1;BGN=0.00119188;ARL=230;DEA=53;QA=37;PBP=380;PBM=409;TYPE=SNP;DBXREF=dbSNP:rs2786161,g1000:0.6236,esp5400:0.6825,ExAC:0.6350,GnomAD_AC_exome:142145,GnomAD_AN_exome:228306,GnomAD_AC_genome:20259,GnomAD_AN_genome:30900,GnomAD:0.6265;SGVEP=CHIA|+|NM_001040623|8|c.433-28T>A|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,13,14 1 111861841 129652459 A G 1758 PASS VARTYPE=1;BGN=0.00142973;ARL=227;DEA=95;QA=36;PBP=880;PBM=880;TYPE=SNP;DBXREF=dbSNP:rs2275253,g1000:0.6591,esp5400:0.7224,ExAC:0.6550,PhyloP:-0.7950,SIFT:0.2480,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.1980,MutationTaster:0.0000,GERP:-3.2100,GnomAD_AC_exome:157491,GnomAD_AN_exome:246006,GnomAD_AC_genome:21438,GnomAD_AN_genome:30920,GnomAD:0.6461;SGVEP=CHIA|+|NM_001040623|8|c.532A>G|p.(Ile178Val)|missense GT:DP:AD:DP4 1/1:62:0,62:0,0,31,31 1 111861974 129652499 T C 2414 PASS VARTYPE=1;BGN=0.00119188;ARL=234;DEA=92;QA=37;PBP=1196;PBM=1225;TYPE=SNP;DBXREF=dbSNP:rs2275254,g1000:0.4423,esp5400:0.4999,ExAC:0.5080,PhyloP:0.7960,SIFT:0.9840,PolyPhen2:0.9970,PolyPhen2_HumDiv:1.0000,LRT:0.9510,MutationTaster:0.7850,GERP:3.8000,GnomAD_AC_exome:123586,GnomAD_AN_exome:246014,GnomAD_AC_genome:15010,GnomAD_AN_genome:30888,GnomAD:0.5005;SGVEP=CHIA|+|NM_001040623|9|c.578T>C|p.(Phe193Ser)|missense GT:DP:AD:DP4 1/1:83:0,83:0,0,41,42 1 111862952 129652758 T G 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=221;DER=135;DEA=97;QR=11;QA=37;PBP=2096;PBM=2241;TYPE=SNP;DBXREF=dbSNP:rs2256721,g1000:0.6573,esp5400:0.7208,ExAC:0.6550,PhyloP:-0.0080,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.4800,GERP:1.4900,GnomAD_AC_exome:157290,GnomAD_AN_exome:245796,GnomAD_AC_genome:21407,GnomAD_AN_genome:30912,GnomAD:0.6458;SGVEP=CHIA|+|NM_001040623|10|c.812T>G|p.(Val271Gly)|missense GT:DP:AD:DP4 1/1:149:0,149:0,0,72,77 1 112329551 129798448 G T 681 off_target VARTYPE=1;BGN=0.00171504;ARL=237;DER=63;DEA=69;QR=37;QA=35;PBP=342;PBM=346;TYPE=SNP;DBXREF=dbSNP:rs3738298,g1000:0.1927,esp5400:0.1495,ExAC:0.1650,clinvar:rs3738298,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:40033,GnomAD_AN_exome:245996,GnomAD_AC_genome:5295,GnomAD_AN_genome:30900,GnomAD:0.1637;SGVEP=KCND3|-|NM_004980|3|c.1269+15C>A|.|intronic GT:DP:AD:DP4 0/1:53:23,30:12,11,15,15 1 112329838 129798614 G T 220 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=263;DER=22;DEA=76;QR=36;QA=38;PBP=99;PBM=126;SP=0;TYPE=SNP;DBXREF=dbSNP:rs11587284,g1000:0.1939,GnomAD_AC_genome:5306,GnomAD_AN_genome:30918,GnomAD:0.1716;SGVEP=KCND3|-|NM_004980|3|c.1107-110C>A|.|intronic GT:DP:AD:DP4 0/1:19:10,9:5,5,4,5 1 113456546 104480 A T 569 PASS VARTYPE=1;BGN=0.000993604;ARL=201;DER=84;DEA=85;QR=37;QA=38;PBP=275;PBM=302;TYPE=SNP;DBXREF=dbSNP:rs1049434,g1000:0.6767,esp5400:0.6656,ExAC:0.5970,PhyloP:0.2700,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.4690,MutationTaster:1.0000,GERP:2.7400,clinvar:rs1049434,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:145489,GnomAD_AN_exome:246242,GnomAD_AC_genome:20506,GnomAD_AN_genome:30888,GnomAD:0.5990;SGVEP=SLC16A1|-|NM_001166496|5|c.1470T>A|p.(Asp490Glu)|missense GT:DP:AD:DP4 0/1:66:41,25:21,20,12,13 1 113460683 130124361 T G 111 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=185;DER=22;DEA=13;QR=34;QA=37;PBP=48;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1344429,g1000:0.3568,esp5400:0.2835,ExAC:0.4090,GnomAD_AC_exome:30613,GnomAD_AN_exome:64066,GnomAD_AC_genome:1325,GnomAD_AN_genome:15816,GnomAD:0.3998;SGVEP=SLC16A1|-|NM_001166496|4|c.362-17A>C|.|intronic GT:DP:AD:DP4 0/1:15:6,5:3,3,2,3 1 114377093 130333934 A G 1399 off_target VARTYPE=1;BGN=0.00119188;ARL=242;DEA=59;QA=37;PBP=671;PBM=730;TYPE=SNP;DBXREF=dbSNP:rs1599971,g1000:0.7013,esp5400:0.8038,ExAC:0.7160,GnomAD_AC_exome:172557,GnomAD_AN_exome:245228,GnomAD_AC_genome:23499,GnomAD_AN_genome:30940,GnomAD:0.7099;SGVEP=PTPN22|-|NM_001193431|15|c.1895-32T>C|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,23,25 1 114377148 130333952 T C 120 off_target VARTYPE=1;BGN=0.00171504;ARL=263;DER=61;DEA=9;QR=37;QA=35;PBP=62;PBM=62;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1970559,g1000:0.3167,GnomAD_AC_genome:10625,GnomAD_AN_genome:30928,GnomAD:0.3435;SGVEP=PTPN22|-|NM_001193431|15|c.1895-87A>G|.|intronic GT:DP:AD:DP4 0/1:20:14,6:7,7,3,3 1 114377568 104539 A G 512 low_coverage VARTYPE=1;BGN=0.00142973;ARL=206;DEA=96;QA=36;PBP=227;PBM=284;TYPE=SNP;DBXREF=dbSNP:rs2476601,g1000:0.9726,esp5400:0.9343,ExAC:0.9330,PhyloP:0.3510,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:2.7000,GnomAD_AC_exome:200904,GnomAD_AN_exome:216374,GnomAD_AC_genome:28435,GnomAD_AN_genome:30952,GnomAD:0.9273;SGVEP=PTPN22|-|NM_001193431|14|c.1858T>C|p.(Trp620Arg)|missense GT:DP:AD:DP4 1/1:18:0,18:0,0,8,10 1 114401231 130339220 A G 526 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=209;DEA=29;QA=37;PBP=263;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs1217418,g1000:0.5154,esp5400:0.5930,ExAC:0.4820,GnomAD_AC_exome:75813,GnomAD_AN_exome:142514,GnomAD_AC_genome:16805,GnomAD_AN_genome:30464,GnomAD:0.5354;SGVEP=PTPN22|-|NM_001193431|4|c.274-36T>C|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 1 114401904 130345539 T G 965 off_target VARTYPE=1;BGN=0.00142973;ARL=250;DEA=43;QA=36;PBP=483;PBM=483;TYPE=SNP;DBXREF=dbSNP:rs1217419,g1000:0.5120,GnomAD_AC_genome:16940,GnomAD_AN_genome:30872,GnomAD:0.5487;SGVEP=PTPN22|-|NM_001193431|2|c.196+70A>C|.|intronic GT:DP:AD:DP4 1/1:34:0,34:0,0,17,17 1 114438951 104560 A G 787 PASS VARTYPE=1;BGN=0.000993604;ARL=216;DER=97;DEA=97;QR=37;QA=38;PBP=396;PBM=400;TYPE=SNP;DBXREF=dbSNP:rs1217401,g1000:0.3770,esp5400:0.4454,ExAC:0.3190,PhyloP:2.3170,SIFT:0.7900,PolyPhen2:0.1110,PolyPhen2_HumDiv:0.0710,LRT:0.9910,MutationTaster:1.0000,GERP:6.0400,clinvar:rs1217401,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:74607,GnomAD_AN_exome:246080,GnomAD_AC_genome:12505,GnomAD_AN_genome:30920,GnomAD:0.3145;SGVEP=AP4B1|-|NM_001253852|8|c.1439T>C|p.(Leu480Ser)|missense GT:DP:AD:DP4 0/1:82:48,34:25,23,17,17 1 114947935 130473207 G A 351 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=250;DEA=46;QA=37;PBP=175;PBM=175;TYPE=SNP;DBXREF=dbSNP:rs1230795,g1000:1.0000,GnomAD_AC_genome:30984,GnomAD_AN_genome:30984,GnomAD:1.0000;SGVEP=TRIM33|-|NM_015906|15|c.2768+97C>T|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 114948281 130473421 A G 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=214;DEA=78;QA=37;PBP=1864;PBM=1922;TYPE=SNP;DBXREF=dbSNP:rs6537825,g1000:0.8564,esp5400:0.9410,ExAC:0.8920,PhyloP:0.6490,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:4.3500,GnomAD_AC_exome:218143,GnomAD_AN_exome:246204,GnomAD_AC_genome:28644,GnomAD_AN_genome:30966,GnomAD:0.8904;SGVEP=TRIM33|-|NM_015906|15|c.2519T>C|p.(Ile840Thr)|missense GT:DP:AD:DP4 1/1:130:0,130:0,0,64,66 1 114951220 130474436 C T 155 off_target VARTYPE=1;BGN=0.000993604;ARL=229;DER=48;DEA=37;QR=35;QA=38;PBP=92;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6672519,g1000:0.2624,GnomAD_AC_genome:10450,GnomAD_AN_genome:30850,GnomAD:0.3387;SGVEP=TRIM33|-|NM_015906|13|c.2258+79G>A|.|intronic GT:DP:AD:DP4 0/1:24:17,7:9,8,4,3 1 114951390 130474531 T A 574 off_target VARTYPE=1;BGN=0.00119188;ARL=241;DER=48;DEA=94;QR=38;QA=37;PBP=276;PBM=304;TYPE=SNP;DBXREF=dbSNP:rs71662879,g1000:0.1108,esp5400:0.1575,ExAC:0.1430,GnomAD_AC_exome:32490,GnomAD_AN_exome:207150,GnomAD_AC_genome:4772,GnomAD_AN_genome:30920,GnomAD:0.1565;SGVEP=TRIM33|-|NM_015906|13|c.2195-28A>T|.|intronic GT:DP:AD:DP4 0/1:37:14,23:7,7,11,12 1 114969925 130479861 GAAAAAAA GAAAAAA 337 off_target VARTYPE=1;BGN=0.0382061;ARL=217;DER=64;DEA=87;QR=37;QA=36;HL=7;PBP=161;PBM=186;TYPE=INDEL;DBXREF=dbSNP:rs36115645,g1000:0.1042,ExAC:0.1510,GnomAD_AC_exome:33296,GnomAD_AN_exome:213976,GnomAD_AC_genome:4550,GnomAD_AN_genome:30736,GnomAD:0.1547;SGVEP=TRIM33|-|NM_015906|8|c.1303-10del|.|intronic GT:DP:AD:DP4 0/1:81:41,40:21,20,19,21 1 114973429 130480770 T C 556 PASS VARTYPE=1;BGN=0.000993604;ARL=226;DER=59;DEA=52;QR=37;QA=38;PBP=281;PBM=281;TYPE=SNP;DBXREF=dbSNP:rs12083584,g1000:0.2957,esp5400:0.3683,ExAC:0.3070,PhyloP:0.7450,MutationTaster:1.0000,GERP:3.7700,GnomAD_AC_exome:74226,GnomAD_AN_exome:245638,GnomAD_AC_genome:11074,GnomAD_AN_genome:30906,GnomAD:0.3085;SGVEP=TRIM33|-|NM_015906|6|c.1146A>G|p.(Gln382:)|synonymous GT:DP:AD:DP4 0/1:38:16,22:8,8,11,11 1 114976224 130481451 A C 596 off_target VARTYPE=1;BGN=0.00119188;ARL=216;DER=51;DEA=63;QR=38;QA=37;PBP=302;PBM=302;TYPE=SNP;DBXREF=dbSNP:rs12132214,g1000:0.0495,esp5400:0.0927,ExAC:0.0910,GnomAD_AC_exome:20672,GnomAD_AN_exome:219684,GnomAD_AC_genome:2567,GnomAD_AN_genome:30950,GnomAD:0.0927;SGVEP=TRIM33|-|NM_015906|5|c.1040+15T>G|.|intronic GT:DP:AD:DP4 0/1:58:32,26:16,16,13,13 1 114976433 130481575 G A 145 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=240;DER=16;DEA=57;QR=37;QA=38;PBP=75;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs113801966,g1000:0.0140,GnomAD_AC_genome:816,GnomAD_AN_genome:30946,GnomAD:0.0264;SGVEP=TRIM33|-|NM_015906|5|c.924-78C>T|.|intronic GT:DP:AD:DP4 0/1:14:8,6:4,4,3,3 1 115231254 130555242 G A 717 PASS VARTYPE=1;BGN=0.00119188;ARL=213;DER=100;DEA=82;QR=37;QA=37;PBP=387;PBM=339;TYPE=SNP;DBXREF=dbSNP:rs61752479,g1000:0.0389,esp5400:0.0941,ExAC:0.0880,PhyloP:2.8040,SIFT:1.0000,PolyPhen2:1.0000,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.6200,clinvar:rs61752479,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:21604,GnomAD_AN_exome:246192,GnomAD_AC_genome:2984,GnomAD_AN_genome:30960,GnomAD:0.0887;SGVEP=AMPD1|-|NM_000036|3|c.242C>T|p.(Pro81Leu)|missense GT:DP:AD:DP4 0/1:77:45,32:23,22,17,15 1 115236057 104728 G A 181 PASS VARTYPE=1;BGN=0.000993604;ARL=203;DER=83;DEA=63;QR=37;QA=38;PBP=95;PBM=92;SP=0;TYPE=SNP;DBXREF=dbSNP:rs17602729,g1000:0.0381,esp5400:0.0931,ExAC:0.0870,PhyloP:1.1430,MutationTaster:1.0000,GERP:2.8400,clinvar:rs17602729,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:21204,GnomAD_AN_exome:245996,GnomAD_AC_genome:2946,GnomAD_AN_genome:30830,GnomAD:0.0872;SGVEP=AMPD1|-|NM_000036|2|c.133C>T|p.(Gln45*)|nonsense GT:DP:AD:DP4 0/1:24:16,8:7,9,4,4 1 115576023 130630933 A G 1544 PASS VARTYPE=1;BGN=0.00119188;ARL=218;DEA=88;QA=37;PBP=788;PBM=759;TYPE=SNP;DBXREF=dbSNP:rs10776792,g1000:0.9836,esp5400:0.9757,ExAC:0.9710,PhyloP:-0.6150,SIFT:0.2390,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.5340,MutationTaster:0.0000,GERP:-1.6900,clinvar:rs10776792,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:238892,GnomAD_AN_exome:246036,GnomAD_AC_genome:30159,GnomAD_AN_genome:30946,GnomAD:0.9714;SGVEP=TSHB|+|NM_000549|2|c.40A>G|p.(Thr14Ala)|missense GT:DP:AD:DP4 1/1:53:0,53:0,0,27,26 1 115576482 130631203 C G 380 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=236;DEA=31;QA=37;PBP=205;PBM=175;TYPE=SNP;DBXREF=dbSNP:rs28566771,g1000:0.4389,GnomAD_AC_genome:14410,GnomAD_AN_genome:30852,GnomAD:0.4671;SGVEP=TSHB|+|NM_000549|3|c.163-112C>G|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 1 115829313 130702066 G A 1954 PASS VARTYPE=1;BGN=0.00142973;ARL=220;DER=109;DEA=103;QR=36;QA=36;PBP=983;PBM=986;TYPE=SNP;DBXREF=dbSNP:rs6330,g1000:0.2474,esp5400:0.3704,ExAC:0.3650,PhyloP:1.2640,SIFT:0.9780,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0020,LRT:0.9310,MutationTaster:0.7460,GERP:4.4500,clinvar:rs6330,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:91127,GnomAD_AN_exome:246188,GnomAD_AC_genome:11408,GnomAD_AN_genome:30888,GnomAD:0.3701;SGVEP=NGF|-|NM_002506|3|c.104C>T|p.(Ala35Val)|missense GT:DP:AD:DP4 0/1:183:95,88:48,47,44,44 1 116202216 130789401 G A 259 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=231;DER=68;DEA=45;QR=32;QA=35;PBP=121;PBM=143;TYPE=SNP;DBXREF=dbSNP:rs375438279,esp5400:0.0001,ExAC:0.0002,GnomAD_AC_exome:35,GnomAD_AN_exome:245792,GnomAD_AC_genome:3,GnomAD_AN_genome:30944,GnomAD:0.0001;SGVEP=VANGL1|+|NM_001172411|3|c.72-46G>A|.|intronic GT:DP:AD:DP4 0/1:18:7,11:3,4,5,6 1 116206423 130790619 G A 1575 PASS VARTYPE=1;BGN=0.00119188;ARL=215;DER=102;DEA=112;QR=37;QA=37;PBP=807;PBM=780;TYPE=SNP;DBXREF=dbSNP:rs4839469,g1000:0.1150,esp5400:0.1243,ExAC:0.1420,PhyloP:1.3970,SIFT:0.6710,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0150,LRT:1.0000,MutationTaster:0.1760,GERP:3.9000,clinvar:rs4839469,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:37077,GnomAD_AN_exome:246262,GnomAD_AC_genome:3620,GnomAD_AN_genome:30960,GnomAD:0.1468;SGVEP=VANGL1|+|NM_001172411|4|c.340G>A|p.(Ala114Thr)|missense GT:DP:AD:DP4 0/1:129:62,67:31,31,34,33 1 116283343 105059 A G 2877 off_target VARTYPE=1;BGN=0.00119188;ARL=197;DEA=51;QA=37;PBP=1457;PBM=1428;TYPE=SNP;DBXREF=dbSNP:rs9428083,g1000:0.6436,esp5400:0.7061,ExAC:0.7860,clinvar:rs9428083,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:195605,GnomAD_AN_exome:245580,GnomAD_AC_genome:21923,GnomAD_AN_genome:30872,GnomAD:0.7869;SGVEP=CASQ2|-|NM_001232|3|c.420+6T>C|.|intronic GT:DP:AD:DP4 1/1:99:0,99:0,0,50,49 1 116283526 130817441 G A 438 low_coverage;off_target VARTYPE=1;BGN=0.00119188;ARL=264;DEA=67;QA=37;PBP=205;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs7538337,g1000:0.6436,GnomAD_AC_genome:21954,GnomAD_AN_genome:30932,GnomAD:0.7098;SGVEP=CASQ2|-|NM_001232|3|c.320-77C>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,7,8 1 116311198 130836982 T C 963 off_target VARTYPE=1;BGN=0.00119188;ARL=242;DEA=71;QA=37;PBP=438;PBM=526;TYPE=SNP;DBXREF=dbSNP:rs4074537,g1000:0.9625,esp5400:0.9578,ExAC:0.9870,GnomAD_AC_exome:219160,GnomAD_AN_exome:221262,GnomAD_AC_genome:29835,GnomAD_AN_genome:30968,GnomAD:0.9872;SGVEP=CASQ2|-|NM_001232|1|c.-36A>G|.|5'UTR GT:DP:AD:DP4 1/1:33:0,33:0,0,15,18 1 117910682 131283966 G A 276 low_coverage;off_target VARTYPE=1;BGN=0.00171504;ARL=258;DEA=37;QA=35;PBP=138;PBM=138;TYPE=SNP;DBXREF=dbSNP:rs1146297,g1000:0.7802,GnomAD_AC_genome:24678,GnomAD_AN_genome:30942,GnomAD:0.7976;SGVEP=MAN1A2|+|NM_006699|1|c.-124G>A|.|5'UTR GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 117957288 131301273 A G 937 off_target VARTYPE=1;BGN=0.00142973;ARL=246;DEA=47;QA=36;PBP=455;PBM=483;TYPE=SNP;DBXREF=dbSNP:rs1289948,g1000:0.7648,esp5400:0.7990,ExAC:0.7520,GnomAD_AC_exome:177654,GnomAD_AN_exome:238910,GnomAD_AC_genome:24012,GnomAD_AN_genome:30722,GnomAD:0.7479;SGVEP=MAN1A2|+|NM_006699|4|c.656-47A>G|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,16,17 1 118565953 131484729 G A 634 PASS VARTYPE=1;BGN=0.00119188;ARL=219;DER=105;DEA=59;QR=37;QA=37;PBP=320;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs10923472,g1000:0.2873,esp5400:0.3628,ExAC:0.3940,PhyloP:2.6690,SIFT:0.9970,PolyPhen2:0.9980,PolyPhen2_HumDiv:1.0000,LRT:0.9850,MutationTaster:0.7740,GERP:5.6300,GnomAD_AC_exome:95951,GnomAD_AN_exome:244282,GnomAD_AC_genome:11326,GnomAD_AN_genome:30820,GnomAD:0.3900;SGVEP=SPAG17|-|NM_206996|28|c.4043C>T|p.(Pro1348Leu)|missense GT:DP:AD:DP4 0/1:65:37,28:19,18,14,14 1 118583408 131486981 G A 149 low_variant_fraction VARTYPE=1;BGN=0.000993604;ARL=224;DER=99;DEA=112;QR=37;QA=38;PBP=77;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10923477,g1000:0.2885,esp5400:0.3674,ExAC:0.3980,GnomAD_AC_exome:97675,GnomAD_AN_exome:245866,GnomAD_AC_genome:11457,GnomAD_AN_genome:30888,GnomAD:0.3943;SGVEP=SPAG17|-|NM_206996|22|c.3111C>T|p.(Tyr1037:)|synonymous GT:DP:AD:DP4 0/1:56:48,8:24,24,4,4 1 118617274 131492782 C T 155 off_target VARTYPE=1;BGN=0.00119188;ARL=235;DER=51;DEA=94;QR=35;QA=37;PBP=80;PBM=80;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1935993,g1000:0.4283,esp5400:0.5351,ExAC:0.4660,GnomAD_AC_exome:111179,GnomAD_AN_exome:242990,GnomAD_AC_genome:15741,GnomAD_AN_genome:30892,GnomAD:0.4634;SGVEP=SPAG17|-|NM_206996|16|c.2210-51G>A|.|intronic GT:DP:AD:DP4 0/1:40:32,8:16,16,4,4 1 118623681 131493320 TACACAC T 143 low_coverage;off_target VARTYPE=1;BGN=0.000993604;ARL=214;DER=54;DEA=42;QR=34;QA=206;PBP=73;PBM=75;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs561598880,g1000:0.3918,GnomAD_AC_genome:14201,GnomAD_AN_genome:29260,GnomAD:0.4853;SGVEP=SPAG17|-|NM_206996|15|c.2209+37_2209+42del|.|intronic GT:DP:AD:DP4 0/1:15:4,6:3,1,3,3 1 118644430 131499529 A G 907 PASS VARTYPE=1;BGN=0.00119188;ARL=216;DER=98;DEA=112;QR=37;QA=37;PBP=470;PBM=447;TYPE=SNP;DBXREF=dbSNP:rs10754367,g1000:0.5639,esp5400:0.6055,ExAC:0.5520,GnomAD_AC_exome:133137,GnomAD_AN_exome:246044,GnomAD_AC_genome:18174,GnomAD_AN_genome:30886,GnomAD:0.5464;SGVEP=SPAG17|-|NM_206996|5|c.567T>C|p.(Asn189:)|synonymous GT:DP:AD:DP4 0/1:80:41,39:21,20,20,19 1 119466275 131734621 A G 1137 off_target VARTYPE=1;BGN=0.00119188;ARL=230;DEA=38;QA=37;PBP=526;PBM=613;TYPE=SNP;DBXREF=dbSNP:rs4659129,g1000:0.6416,esp5400:0.6489,ExAC:0.6580,GnomAD_AC_exome:162061,GnomAD_AN_exome:244746,GnomAD_AC_genome:20323,GnomAD_AN_genome:30930,GnomAD:0.6616;SGVEP=TBX15|-|NM_001330677|5|c.694-49T>C|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,18,21 1 120057158 131913389 C T 927 PASS VARTYPE=1;BGN=0.00119188;ARL=237;DER=109;DEA=98;QR=37;QA=37;PBP=496;PBM=441;TYPE=SNP;DBXREF=dbSNP:rs6203,g1000:0.3668,esp5400:0.3213,ExAC:0.4390,GnomAD_AC_exome:111134,GnomAD_AN_exome:245768,GnomAD_AC_genome:11414,GnomAD_AN_genome:30844,GnomAD:0.4430;SGVEP=HSD3B1|+|NM_000862|4|c.1012C>T|p.(Leu338:)|synonymous GT:DP:AD:DP4 0/1:106:64,42:31,33,22,20 1 120057246 131913481 C A 710 PASS VARTYPE=1;BGN=0.00142973;ARL=236;DER=72;DEA=84;QR=37;QA=36;PBP=374;PBM=345;TYPE=SNP;DBXREF=dbSNP:rs45609334,g1000:0.8335,esp5400:0.7504,ExAC:0.7550,PhyloP:0.2160,SIFT:0.6970,PolyPhen2:0.0250,PolyPhen2_HumDiv:0.0210,LRT:0.1170,MutationTaster:0.0000,GERP:-0.0430,GnomAD_AC_exome:184386,GnomAD_AN_exome:244358,GnomAD_AC_genome:23719,GnomAD_AN_genome:30814,GnomAD:0.7563;SGVEP=HSD3B1|+|NM_000862|4|c.1100C>A|p.(Thr367Asn)|missense GT:DP:AD:DP4 0/1:81:48,33:23,25,17,16 1 120254545 131978619 G C 119 off_target VARTYPE=1;BGN=0.00142973;ARL=255;DER=27;DEA=45;QR=35;QA=36;PBP=62;PBM=62;SP=0;TYPE=SNP;DBXREF=dbSNP:rs562038,g1000:0.8175,clinvar:rs562038,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:23458,GnomAD_AN_genome:30928,GnomAD:0.7585;SGVEP=PHGDH|+|NM_006623|1|c.-101G>C|.|5'UTR GT:DP:AD:DP4 0/1:24:18,6:9,9,3,3 1 120285546 131997590 G A 10000 PASS VARTYPE=1;BGN=0.00119188;ARL=226;DEA=109;QA=37;PBP=2183;PBM=2183;TYPE=SNP;DBXREF=dbSNP:rs543703,g1000:0.7222,esp5400:0.7084,ExAC:0.6920,clinvar:rs543703,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:169763,GnomAD_AN_exome:245988,GnomAD_AC_genome:21004,GnomAD_AN_genome:30882,GnomAD:0.6890;SGVEP=PHGDH|+|NM_006623|11|c.1326G>A|p.(Thr442:)|synonymous GT:DP:AD:DP4 1/1:150:0,150:0,0,75,75 1 120293352 132000846 T C 219 off_target VARTYPE=1;BGN=0.00142973;ARL=249;DER=43;DEA=49;QR=35;QA=36;PBP=109;PBM=116;TYPE=SNP;DBXREF=dbSNP:rs667226,g1000:0.1082,GnomAD_AC_genome:3528,GnomAD_AN_genome:30956,GnomAD:0.1140;SGVEP=HMGCS2|-|NM_001166107|8|c.*5+68A>G|.|intronic GT:DP:AD:DP4 0/1:25:15,10:9,6,5,5 1 120293367 132000866 T C 994 off_target VARTYPE=1;BGN=0.00142973;ARL=242;DEA=47;QA=36;PBP=540;PBM=455;TYPE=SNP;DBXREF=dbSNP:rs667246,g1000:0.6887,GnomAD_AC_genome:20169,GnomAD_AN_genome:30872,GnomAD:0.6533;SGVEP=HMGCS2|-|NM_001166107|8|c.*5+53A>G|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,19,16 1 120293568 132001155 G A 385 off_target VARTYPE=1;BGN=0.00119188;ARL=237;DER=36;DEA=62;QR=35;QA=37;PBP=160;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs668156,g1000:0.1084,esp5400:0.1316,ExAC:0.1320,GnomAD_AC_exome:31297,GnomAD_AN_exome:233650,GnomAD_AC_genome:3532,GnomAD_AN_genome:30934,GnomAD:0.1316;SGVEP=HMGCS2|-|NM_001166107|8|c.1295-37C>T|.|intronic GT:DP:AD:DP4 0/1:41:24,17:11,13,7,10 1 120296033 132002342 AAC A 547 off_target VARTYPE=1;BGN=0.000993604;ARL=215;DER=24;DEA=80;QR=35;QA=71;PBP=266;PBM=289;TYPE=INDEL;DBXREF=dbSNP:rs773032536,g1000:0.3265,ExAC:0.2000,GnomAD_AC_exome:38703,GnomAD_AN_exome:151432,GnomAD_AC_genome:7878,GnomAD_AN_genome:28658,GnomAD:0.2587;SGVEP=HMGCS2|-|NM_001166107|6|c.1062-26_1062-25del|.|intronic GT:DP:AD:DP4 0/1:78:49,25:24,25,12,13 1 120478285 132074708 T C 1021 off_target VARTYPE=1;BGN=0.00119188;ARL=236;DEA=62;QA=37;PBP=496;PBM=526;TYPE=SNP;DBXREF=dbSNP:rs5025718,g1000:0.6044,GnomAD_AC_genome:20726,GnomAD_AN_genome:30942,GnomAD:0.6698;SGVEP=NOTCH2|-|NM_001200001|22|c.3523-58A>G|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,17,18 1 120512104 132090417 T C 2153 off_target VARTYPE=1;BGN=0.00142973;ARL=232;DEA=62;QA=36;PBP=1135;PBM=1022;TYPE=SNP;DBXREF=dbSNP:rs2493409,g1000:0.9786,esp5400:0.9739,ExAC:0.9920,GnomAD_AC_exome:233005,GnomAD_AN_exome:234330,GnomAD_AC_genome:30276,GnomAD_AN_genome:30968,GnomAD:0.9924;SGVEP=NOTCH2|-|NM_001200001|6|c.1108+30A>G|.|intronic GT:DP:AD:DP4 1/1:76:0,76:0,0,40,36 1 120548094 132092306 T C 123 low_variant_fraction VARTYPE=1;BGN=0.00142973;ARL=216;DER=101;DEA=39;QR=36;QA=36;PBP=57;PBM=72;SP=1;TYPE=SNP;DBXREF=dbSNP:rs201643251,esp5400:0.0001,GnomAD_AC_exome:17,GnomAD_AN_exome:245740,GnomAD:0.0001;SGVEP=NOTCH2|-|NM_001200001|3|c.273A>G|p.(Arg91:)|synonymous GT:DP:AD:DP4 0/1:476:463,13:240,223,6,7 1 120572612 265411165 T C 215 low_variant_fraction VARTYPE=1;BGN=0.00142973;ARL=206;DER=66;DEA=58;QR=37;QA=36;PBP=112;PBM=111;TYPE=SNP;DBXREF=PhyloP:1.9040,MutationTaster:1.0000,GERP:5.0500;SGVEP=NOTCH2|-|NM_001200001|2|c.74-2A>G|p.(?)|splice_acceptor_-2 GT:DP:AD:DP4 0/1:225:209,16:103,106,8,8 1 120611830 132099340 G A 242 off_target VARTYPE=1;BGN=0.00119188;ARL=271;DER=48;DEA=80;QR=33;QA=37;PBP=130;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs61790277,PhyloP:-1.1470,MutationTaster:0.0000,GERP:-5.4500;SGVEP=NOTCH2|-|NM_001200001|1|c.73+118C>T|.|intronic GT:DP:AD:DP4 0/1:31:20,11:14,6,6,5 1 120611876 132099424 C T 323 off_target VARTYPE=1;BGN=0.00119188;ARL=240;DER=50;DEA=88;QR=35;QA=37;PBP=190;PBM=139;TYPE=SNP;DBXREF=dbSNP:rs11801062;SGVEP=NOTCH2|-|NM_001200001|1|c.73+72G>A|.|intronic GT:DP:AD:DP4 0/1:84:67,17:42,25,10,7 1 120611960 132099634 C T 1679 PASS VARTYPE=1;BGN=0.00142973;ARL=212;DER=84;DEA=72;QR=35;QA=36;PBP=976;PBM=720;TYPE=SNP;DBXREF=dbSNP:rs2603926,esp5400:0.2083,PhyloP:0.6410,SIFT:0.3580,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0280,MutationTaster:0.0000,GERP:2.1400,GnomAD_AC_exome:16595,GnomAD_AN_exome:137774,GnomAD:0.1205;SGVEP=NOTCH2|-|NM_001200001|1|c.61G>A|p.(Ala21Thr)|missense GT:DP:AD:DP4 0/1:327:239,88:125,114,50,38 1 120611964 132099653 G C 1150 low_variant_fraction VARTYPE=1;BGN=0.00119188;ARL=212;DER=83;DEA=87;QR=36;QA=37;PBP=631;PBM=532;TYPE=SNP;DBXREF=dbSNP:rs11810554,esp5400:0.3196,PhyloP:1.7600,SIFT:0.8150,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0020,MutationTaster:0.0300,GERP:2.0400;SGVEP=NOTCH2|-|NM_001200001|1|c.57C>G|p.(Cys19Trp)|missense GT:DP:AD:DP4 0/1:330:267,63:140,127,34,29 1 120612002 105457 CGGGG CGG 1152 PASS VARTYPE=1;BGN=0.0214649;ARL=213;DER=95;DEA=101;QR=36;QA=74;HL=4;PBP=657;PBM=507;TYPE=INDEL;DBXREF=dbSNP:rs864309621,clinvar:rs864309621,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts;SGVEP=NOTCH2|-|NM_001200001|1|c.17_18del|p.(Pro6Argfs*27)|frameshift GT:DP:AD:DP4 0/1:330:268,62:137,131,34,28 1 120612006 105459 G A 1051 low_variant_fraction VARTYPE=1;BGN=0.00119188;ARL=213;DER=94;DEA=86;QR=36;QA=37;PBP=505;PBM=559;TYPE=SNP;DBXREF=dbSNP:rs4021006,g1000:0.3940,esp5400:0.3704,PhyloP:0.5430,MutationTaster:1.0000,GERP:1.9500;SGVEP=NOTCH2|-|NM_001200001|1|c.15C>T|p.(Arg5:)|synonymous GT:DP:AD:DP4 0/1:314:256,58:134,122,28,30 1 120612034 132099897 T G 1097 off_target VARTYPE=1;BGN=0.00119188;ARL=217;DER=74;DEA=73;QR=34;QA=37;PBP=577;PBM=533;TYPE=SNP;DBXREF=dbSNP:rs201668322,esp5400:0.1874;SGVEP=NOTCH2|-|NM_001200001|1|c.-14A>C|.|5'UTR GT:DP:AD:DP4 0/1:266:206,58:103,103,30,28 1 120612037 132099922 TCCTCCGCCG T 280 low_variant_fraction;off_target VARTYPE=1;BGN=0.000993604;ARL=221;DER=72;DEA=109;QR=34;QA=322;PBP=172;PBM=117;TYPE=INDEL;DBXREF=dbSNP:rs782225760;SGVEP=NOTCH2|-|NM_001200001|1|c.-26_-18del|.|5'UTR GT:DP:AD:DP4 0/1:277:255,19:129,126,11,8 1 120612040 . T TCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG 227 low_variant_fraction;off_target VARTYPE=1;BGN=0.000993604;ARL=219;DER=62;DEA=123;QR=34;QA=1169;PBP=119;PBM=121;TYPE=INDEL;SGVEP=NOTCH2|-|NM_001200001|1|c.-21_-20ins33|.|5'UTR GT:DP:AD:DP4 0/1:269:195,16:100,95,8,8 1 120612040 132099959 T TCCTCCTCCG 440 low_variant_fraction;off_target VARTYPE=1;BGN=0.000993604;ARL=219;DER=62;DEA=97;QR=34;QA=321;PBP=260;PBM=199;TYPE=INDEL;DBXREF=dbSNP:rs782658834,ExAC:0.0110;SGVEP=NOTCH2|-|NM_001200001|1|c.-21_-20insCGGAGGAGG|.|5'UTR GT:DP:AD:DP4 0/1:269:195,27:100,95,15,12 1 146672906 133038417 C T 2473 PASS VARTYPE=1;BGN=0.0013919;ARL=225;DEA=101;QA=36;PBP=1282;PBM=1197;TYPE=SNP;DBXREF=dbSNP:rs894469,g1000:0.8958,esp5400:0.8948,ExAC:0.9210,GnomAD_AC_exome:227144,GnomAD_AN_exome:246066,GnomAD_AC_genome:28347,GnomAD_AN_genome:30960,GnomAD:0.9223;SGVEP=FMO5|-|NM_001144829|7|c.1011G>A|p.(Pro337:)|synonymous GT:DP:AD:DP4 1/1:87:0,87:0,0,45,42 1 146673178 133038582 A G 305 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=277;DEA=40;QA=35;PBP=139;PBM=167;TYPE=SNP;DBXREF=dbSNP:rs6683215,g1000:0.9706,GnomAD_AC_genome:29841,GnomAD_AN_genome:30966,GnomAD:0.9637;SGVEP=FMO5|-|NM_001144829|7|c.831-92T>C|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 1 146685121 133041408 G A 685 off_target VARTYPE=1;BGN=0.0013919;ARL=266;DEA=44;QA=36;PBP=285;PBM=400;TYPE=SNP;DBXREF=dbSNP:rs1530336,g1000:0.8954,GnomAD_AC_genome:28365,GnomAD_AN_genome:30972,GnomAD:0.9158;SGVEP=FMO5|-|NM_001144829|4|c.325-84C>T|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,10,14 1 146714255 133048611 A G 127 low_coverage;off_target VARTYPE=1;BGN=0.00200585;ARL=262;DER=60;DEA=53;QR=36;QA=34;PBP=66;PBM=66;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1890040,g1000:0.6901,GnomAD_AC_genome:21131,GnomAD_AN_genome:30820,GnomAD:0.6856;SGVEP=CHD1L|+|NM_001256336|1|.|.|intergenic GT:DP:AD:DP4 0/1:14:8,6:4,4,3,3 1 146714281 133048620 C G 163 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=258;DER=73;DEA=69;QR=38;QA=37;PBP=96;PBM=71;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1890041,g1000:0.2835,GnomAD_AC_genome:12531,GnomAD_AN_genome:30844,GnomAD:0.4063;SGVEP=CHD1L|+|NM_001256336|1|.|.|intergenic GT:DP:AD:DP4 0/1:17:10,7:5,5,4,3 1 146714392 133048791 G C 912 PASS VARTYPE=1;BGN=0.00115949;ARL=215;DEA=87;QA=37;PBP=472;PBM=449;TYPE=SNP;DBXREF=dbSNP:rs1890042,g1000:0.5353,esp5400:0.7877,ExAC:0.5340,GnomAD_AC_exome:18567,GnomAD_AN_exome:33708,GnomAD_AC_genome:17240,GnomAD_AN_genome:30742,GnomAD:0.5556;SGVEP=CHD1L|+|NM_001256338|1|c.39G>C|p.(Ala13:)|synonymous GT:DP:AD:DP4 0/1:80:0,39:0,0,20,19 1 146714392 133048795 G T 938 PASS VARTYPE=1;BGN=0.0013919;ARL=215;DEA=84;QA=36;PBP=485;PBM=462;TYPE=SNP;DBXREF=dbSNP:rs1890042,g1000:0.1825,esp5400:0.2123,ExAC:0.2140,GnomAD_AC_exome:8286,GnomAD_AN_exome:33708,GnomAD_AC_genome:6513,GnomAD_AN_genome:30742,GnomAD:0.2296;SGVEP=CHD1L|+|NM_001256338|1|c.39G>T|p.(Ala13:)|synonymous GT:DP:AD:DP4 0/1:80:0,41:0,0,21,20 1 146727388 133051011 G T 165 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=260;DER=80;DEA=50;QR=37;QA=37;PBP=96;PBM=73;SP=0;TYPE=SNP;DBXREF=dbSNP:rs17160051,g1000:0.1793,GnomAD_AC_genome:6521,GnomAD_AN_genome:30892,GnomAD:0.2111;SGVEP=CHD1L|+|NM_001256336|3|c.48-80G>T|.|intronic GT:DP:AD:DP4 0/1:16:9,7:5,4,4,3 1 146728162 133051277 TA TAA 703 off_target VARTYPE=1;BGN=0.00115949;ARL=245;DEA=92;QA=37;PBP=352;PBM=352;TYPE=INDEL;DBXREF=dbSNP:rs61409326,g1000:0.9669,ExAC:0.9670,GnomAD_AC_exome:237925,GnomAD_AN_exome:246050,GnomAD_AC_genome:29726,GnomAD_AN_genome:30974,GnomAD:0.9662;SGVEP=CHD1L|+|NM_001256336|4|c.163-22dupA|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 1 146736092 133055306 C T 548 PASS VARTYPE=1;BGN=0.00115949;ARL=215;DER=58;DEA=54;QR=36;QA=37;PBP=264;PBM=291;TYPE=SNP;DBXREF=dbSNP:rs4950315,g1000:0.1472,esp5400:0.1699,ExAC:0.2020,GnomAD_AC_exome:48710,GnomAD_AN_exome:234376,GnomAD_AC_genome:5560,GnomAD_AN_genome:30934,GnomAD:0.2046;SGVEP=CHD1L|+|NM_001256336|6|c.288C>T|p.(Val96:)|synonymous GT:DP:AD:DP4 0/1:45:22,23:11,11,11,12 1 146740502 133056079 C G 127 low_coverage VARTYPE=1;BGN=0.0013919;ARL=210;DER=98;DEA=75;QR=36;QA=36;PBP=65;PBM=66;SP=0;TYPE=SNP;DBXREF=dbSNP:rs17356233,g1000:0.1472,esp5400:0.1704,ExAC:0.2070,PhyloP:-0.1480,SIFT:0.7830,PolyPhen2:0.2490,PolyPhen2_HumDiv:0.3960,LRT:0.9900,MutationTaster:1.0000,GERP:-0.7640,GnomAD_AC_exome:51544,GnomAD_AN_exome:245892,GnomAD_AC_genome:5554,GnomAD_AN_genome:30918,GnomAD:0.2063;SGVEP=CHD1L|+|NM_001256336|9|c.750C>G|p.(His250Gln)|missense GT:DP:AD:DP4 0/1:19:13,6:7,6,3,3 1 146740576 133056120 G A 333 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=234;DER=89;DEA=61;QR=11;QA=35;PBP=167;PBM=167;TYPE=SNP;DBXREF=dbSNP:rs11576360,g1000:0.7372,esp5400:0.7979,ExAC:0.8130,GnomAD_AC_exome:192970,GnomAD_AN_exome:235142,GnomAD_AC_genome:24473,GnomAD_AN_genome:30890,GnomAD:0.8174;SGVEP=CHD1L|+|NM_001256336|9|c.785+39G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 146747153 133057373 T C 2424 off_target VARTYPE=1;BGN=0.00115949;ARL=222;DEA=72;QA=37;PBP=1200;PBM=1230;TYPE=SNP;DBXREF=dbSNP:rs6680778,g1000:0.7171,esp5400:0.7753,ExAC:0.8070,GnomAD_AC_exome:199076,GnomAD_AN_exome:245562,GnomAD_AC_genome:23847,GnomAD_AN_genome:30886,GnomAD:0.8064;SGVEP=CHD1L|+|NM_001256336|12|c.1085+22T>C|.|intronic GT:DP:AD:DP4 1/1:83:0,83:0,0,41,42 1 146747232 133057401 C T 376 off_target VARTYPE=1;BGN=0.00115949;ARL=250;DER=36;DEA=43;QR=35;QA=37;PBP=165;PBM=217;TYPE=SNP;DBXREF=dbSNP:rs6672850,g1000:0.3363,GnomAD_AC_genome:9929,GnomAD_AN_genome:30774,GnomAD:0.3226;SGVEP=CHD1L|+|NM_001256336|12|c.1085+101C>T|.|intronic GT:DP:AD:DP4 0/1:34:18,16:9,9,7,9 1 146748008 133057715 CAGCCA C 258 off_target VARTYPE=1;BGN=0.000965875;ARL=241;DER=19;DEA=54;QR=36;QA=183;PBP=146;PBM=118;TYPE=INDEL;DBXREF=dbSNP:rs3831929,g1000:0.3363,GnomAD_AC_genome:9899,GnomAD_AN_genome:30848,GnomAD:0.3209;SGVEP=CHD1L|+|NM_001256336|13|c.1239+88_1239+92del|.|intronic GT:DP:AD:DP4 0/1:28:17,11:8,9,6,5 1 146751782 133058500 A C 2017 PASS VARTYPE=1;BGN=0.00115949;ARL=210;DEA=91;QA=37;PBP=1025;PBM=996;TYPE=SNP;DBXREF=dbSNP:rs7547279,g1000:0.9679,esp5400:0.9541,ExAC:0.9660,GnomAD_AC_exome:237642,GnomAD_AN_exome:245952,GnomAD_AC_genome:29707,GnomAD_AN_genome:30954,GnomAD:0.9655;SGVEP=CHD1L|+|NM_001256336|14|c.1323A>C|p.(Ile441:)|synonymous GT:DP:AD:DP4 1/1:69:0,69:0,0,35,34 1 146756222 133059526 AAAAC A 205 off_target VARTYPE=1;BGN=0.000965875;ARL=251;DER=39;DEA=91;QR=37;QA=147;PBP=92;PBM=118;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs368960193,g1000:0.3253,ExAC:0.3220,GnomAD_AC_exome:47370,GnomAD_AN_exome:150864,GnomAD_AC_genome:9653,GnomAD_AN_genome:30788,GnomAD:0.3139;SGVEP=CHD1L|+|NM_001256336|15|c.1554+62_1554+65del|.|intronic GT:DP:AD:DP4 0/1:27:18,9:9,9,4,5 1 146759306 133060565 T C 441 off_target VARTYPE=1;BGN=0.00115949;ARL=235;DER=74;DEA=55;QR=37;QA=37;PBP=220;PBM=227;TYPE=SNP;DBXREF=dbSNP:rs6703892,g1000:0.1476,esp5400:0.1694,ExAC:0.2070,GnomAD_AC_exome:50907,GnomAD_AN_exome:242962,GnomAD_AC_genome:5571,GnomAD_AN_genome:30948,GnomAD:0.2062;SGVEP=CHD1L|+|NM_001256336|18|c.1922-8T>C|.|intronic GT:DP:AD:DP4 0/1:32:14,18:8,6,9,9 1 146763089 133061420 G A 133 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=249;DER=38;DEA=65;QR=37;QA=37;PBP=69;PBM=69;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10900333,g1000:0.8239,GnomAD_AC_genome:24144,GnomAD_AN_genome:30936,GnomAD:0.7804;SGVEP=CHD1L|+|NM_001256336|19|c.2021-75G>A|.|intronic GT:DP:AD:DP4 0/1:18:12,6:6,6,3,3 1 146766069 133062256 C CAT 1262 off_target VARTYPE=1;BGN=0.000965875;ARL=238;DEA=67;QA=74;PBP=632;PBM=632;TYPE=INDEL;DBXREF=dbSNP:rs71083827,g1000:0.9681,ExAC:0.9660,GnomAD_AC_exome:223408,GnomAD_AN_exome:231058,GnomAD_AC_genome:29703,GnomAD_AN_genome:30936,GnomAD:0.9661;SGVEP=CHD1L|+|NM_001256336|21|c.2207-22_2207-21insAT|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,21,21 1 146767149 133062613 G T 528 low_coverage VARTYPE=1;BGN=0.00115949;ARL=234;DEA=81;QA=37;PBP=264;PBM=264;TYPE=SNP;DBXREF=dbSNP:rs4950394,g1000:0.9681,esp5400:0.9550,ExAC:0.9670,PhyloP:0.1240,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.6550,MutationTaster:0.0000,GERP:2.9500,GnomAD_AC_exome:236844,GnomAD_AN_exome:244896,GnomAD_AC_genome:29734,GnomAD_AN_genome:30956,GnomAD:0.9664;SGVEP=CHD1L|+|NM_001256336|22|c.2353G>T|p.(Ala785Ser)|missense GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 1 147087721 133122993 T A 1405 off_target VARTYPE=1;BGN=0.00115949;ARL=224;DEA=66;QA=37;PBP=674;PBM=733;TYPE=SNP;DBXREF=dbSNP:rs3737843,g1000:0.3167,esp5400:0.3696,ExAC:0.4440,GnomAD_AC_exome:109671,GnomAD_AN_exome:244780,GnomAD_AC_genome:12486,GnomAD_AN_genome:30894,GnomAD:0.4431;SGVEP=BCL9|+|NM_004326|7|c.660+19T>A|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,23,25 1 147091689 133123621 G A 991 PASS VARTYPE=1;BGN=0.0013919;ARL=222;DER=110;DEA=100;QR=37;QA=36;PBP=452;PBM=548;TYPE=SNP;DBXREF=dbSNP:rs61751617,g1000:0.0150,esp5400:0.0277,ExAC:0.0280,GnomAD_AC_exome:6835,GnomAD_AN_exome:246176,GnomAD_AC_genome:915,GnomAD_AN_genome:30930,GnomAD:0.0280;SGVEP=BCL9|+|NM_004326|8|c.1728G>A|p.(Pro576:)|synonymous GT:DP:AD:DP4 0/1:113:67,46:33,34,21,25 1 147091972 133125797 C T 2020 PASS VARTYPE=1;BGN=0.0013919;ARL=244;DEA=113;QA=36;PBP=969;PBM=1055;TYPE=SNP;DBXREF=dbSNP:rs3820129,g1000:0.1819,esp5400:0.2957,ExAC:0.3140,PhyloP:1.2630,SIFT:0.9800,PolyPhen2:0.0370,PolyPhen2_HumDiv:0.0790,LRT:1.0000,MutationTaster:1.0000,GERP:3.9200,GnomAD_AC_exome:77324,GnomAD_AN_exome:246018,GnomAD_AC_genome:9503,GnomAD_AN_genome:30812,GnomAD:0.3136;SGVEP=BCL9|+|NM_004326|8|c.2011C>T|p.(Pro671Ser)|missense GT:DP:AD:DP4 1/1:71:0,71:0,0,34,37 1 147096794 133127177 A G 1472 off_target VARTYPE=1;BGN=0.000965875;ARL=242;DEA=63;QA=38;PBP=722;PBM=752;TYPE=SNP;DBXREF=dbSNP:rs867270,g1000:0.8383,esp5400:0.8874,ExAC:0.8640,GnomAD_AC_exome:196582,GnomAD_AN_exome:227500,GnomAD_AC_genome:26988,GnomAD_AN_genome:30930,GnomAD:0.8651;SGVEP=BCL9|+|NM_004326|10|c.*34A>G|.|3'UTR GT:DP:AD:DP4 1/1:49:0,49:0,0,24,25 1 147096828 133127183 C G 855 off_target VARTYPE=1;BGN=0.0013919;ARL=244;DEA=56;QA=36;PBP=400;PBM=457;TYPE=SNP;DBXREF=dbSNP:rs946902,g1000:0.9635,GnomAD_AC_genome:29912,GnomAD_AN_genome:30960,GnomAD:0.9661;SGVEP=BCL9|+|NM_004326|10|c.*68C>G|.|3'UTR GT:DP:AD:DP4 1/1:30:0,30:0,0,14,16 1 147230217 133143649 T C 1026 off_target VARTYPE=1;BGN=0.00167091;ARL=241;DEA=50;QA=35;PBP=555;PBM=472;TYPE=SNP;DBXREF=dbSNP:rs1692141,g1000:0.8804,GnomAD_AC_genome:25170,GnomAD_AN_genome:30884,GnomAD:0.8150;SGVEP=GJA5|-|NM_005266|2|c.*53A>G|.|3'UTR GT:DP:AD:DP4 1/1:37:0,37:0,0,20,17 1 150300727 133530394 T C 542 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=227;DEA=52;QA=38;PBP=271;PBM=271;TYPE=SNP;DBXREF=dbSNP:rs834225,g1000:0.5028,esp5400:0.6385,GnomAD_AC_genome:18625,GnomAD_AN_genome:30870,GnomAD:0.6033;SGVEP=PRPF3|+|NM_004698|4|c.277-52T>C|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 1 150310827 133532018 A C 397 off_target VARTYPE=1;BGN=0.00115949;ARL=229;DER=42;DEA=46;QR=38;QA=37;PBP=214;PBM=188;TYPE=SNP;DBXREF=dbSNP:rs11806171,g1000:0.0433,esp5400:0.0838,ExAC:0.0710,GnomAD_AC_exome:16506,GnomAD_AN_exome:244082,GnomAD_AC_genome:2560,GnomAD_AN_genome:30304,GnomAD:0.0695;SGVEP=PRPF3|+|NM_004698|8|c.1202+25A>C|.|intronic GT:DP:AD:DP4 0/1:37:20,17:10,10,9,8 1 150482738 133563104 G A 146 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=248;DER=59;DEA=74;QR=38;QA=37;PBP=75;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs11205387,g1000:0.2500,GnomAD_AC_genome:7701,GnomAD_AN_genome:30924,GnomAD:0.2490;SGVEP=ECM1|+|NM_001202858|5|c.466+80G>A|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 1 150483355 133563207 C T 631 PASS VARTYPE=1;BGN=0.00115949;ARL=240;DER=60;DEA=64;QR=36;QA=37;PBP=357;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs3737240,g1000:0.2238,esp5400:0.2968,ExAC:0.3370,PhyloP:-0.7160,SIFT:0.8060,PolyPhen2:0.5560,PolyPhen2_HumDiv:0.9940,LRT:0.7530,MutationTaster:0.0000,GERP:-5.2200,GnomAD_AC_exome:82104,GnomAD_AN_exome:241338,GnomAD_AC_genome:9116,GnomAD_AN_genome:30886,GnomAD:0.3351;SGVEP=ECM1|+|NM_001202858|6|c.470C>T|p.(Thr157Met)|missense GT:DP:AD:DP4 0/1:81:52,29:26,26,16,13 1 150483840 133563485 C T 656 off_target VARTYPE=1;BGN=0.0013919;ARL=278;DEA=106;QA=36;PBP=371;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs4970979,g1000:0.4663,GnomAD_AC_genome:17787,GnomAD_AN_genome:30866,GnomAD:0.5763;SGVEP=ECM1|+|NM_001202858|7|c.790-93C>T|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,13,10 1 150484004 133563582 G A 1531 PASS VARTYPE=1;BGN=0.0013919;ARL=218;DER=93;DEA=84;QR=37;QA=36;PBP=746;PBM=798;TYPE=SNP;DBXREF=dbSNP:rs11801190,g1000:0.0994,esp5400:0.1349,ExAC:0.0850,GnomAD_AC_exome:19265,GnomAD_AN_exome:246074,GnomAD_AC_genome:3883,GnomAD_AN_genome:30874,GnomAD:0.0836;SGVEP=ECM1|+|NM_001202858|7|c.861G>A|p.(Thr287:)|synonymous GT:DP:AD:DP4 0/1:159:89,70:45,44,34,36 1 150484987 133564208 G A 1687 PASS VARTYPE=1;BGN=0.0013919;ARL=215;DER=100;DEA=95;QR=36;QA=36;PBP=823;PBM=877;TYPE=SNP;DBXREF=dbSNP:rs13294,g1000:0.2666,esp5400:0.3433,ExAC:0.3530,PhyloP:0.7360,SIFT:0.0000,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0030,LRT:1.0000,MutationTaster:0.0900,GERP:4.1700,GnomAD_AC_exome:86876,GnomAD_AN_exome:246224,GnomAD_AC_genome:10152,GnomAD_AN_genome:30770,GnomAD:0.3503;SGVEP=ECM1|+|NM_001202858|8|c.1324G>A|p.(Gly442Ser)|missense GT:DP:AD:DP4 0/1:143:69,74:35,34,36,38 1 150526044 133570414 G C 2888 PASS VARTYPE=1;BGN=0.00115949;ARL=223;DEA=91;QA=37;PBP=1434;PBM=1463;TYPE=SNP;DBXREF=dbSNP:rs41317515,g1000:0.5284,esp5400:0.5459,ExAC:0.5230,PhyloP:-1.0850,SIFT:0.4930,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-4.5700,clinvar:rs41317515,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:128449,GnomAD_AN_exome:246224,GnomAD_AC_genome:16852,GnomAD_AN_genome:30604,GnomAD:0.5249;SGVEP=ADAMTSL4|+|NM_001288607|6|c.577G>C|p.(Ala193Pro)|missense GT:DP:AD:DP4 1/1:99:0,99:0,0,49,50 1 150526406 133570667 C T 1226 PASS VARTYPE=1;BGN=0.00115949;ARL=221;DER=89;DEA=75;QR=36;QA=37;PBP=612;PBM=626;TYPE=SNP;DBXREF=dbSNP:rs6681639,g1000:0.3472,esp5400:0.3566,ExAC:0.2890,clinvar:rs6681639,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:69104,GnomAD_AN_exome:233972,GnomAD_AC_genome:10777,GnomAD_AN_genome:30794,GnomAD:0.3017;SGVEP=ADAMTSL4|+|NM_001288607|6|c.939C>T|p.(Gly313:)|synonymous GT:DP:AD:DP4 0/1:147:90,56:49,41,28,28 1 150528090 133571344 G GACAC 1292 off_target VARTYPE=1;BGN=0.000965875;ARL=244;DER=26;DEA=62;QR=34;QA=144;PBP=665;PBM=635;TYPE=INDEL;DBXREF=dbSNP:rs146160043,ExAC:0.6450,GnomAD_AC_exome:150660,GnomAD_AN_exome:224118,GnomAD_AC_genome:19680,GnomAD_AN_genome:30608,GnomAD:0.6687;SGVEP=ADAMTSL4|+|NM_001288607|9|c.1440+51_1440+54dup|.|intronic GT:DP:AD:DP4 1/1:59:12,47:6,6,24,23 1 150528118 133571358 T TACAC 646 off_target VARTYPE=1;BGN=0.000965875;ARL=263;DER=7;DEA=75;QR=32;QA=148;PBP=295;PBM=358;TYPE=INDEL;DBXREF=dbSNP:rs149100901,g1000:0.6891,GnomAD_AC_genome:18597,GnomAD_AN_genome:29940,GnomAD:0.6211;SGVEP=ADAMTSL4|+|NM_001288607|9|c.1440+81_1440+84dup|.|intronic GT:DP:AD:DP4 0/1:33:9,24:5,4,11,13 1 150528175 133571399 GCA G 291 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=283;DER=1;DEA=42;QR=21;QA=68;PBP=114;PBM=181;TYPE=INDEL;DBXREF=dbSNP:rs397750963,g1000:0.7147,GnomAD_AC_genome:19740,GnomAD_AN_genome:30658,GnomAD:0.6439;SGVEP=ADAMTSL4|+|NM_001288607|9|c.1440+137_1440+138del|.|intronic GT:DP:AD:DP4 1/1:11:1,10:1,0,4,6 1 150529322 133572034 T TAA 1902 off_target VARTYPE=1;BGN=0.000965875;ARL=251;DER=5;DEA=74;QR=20;QA=70;PBP=858;PBM=1052;TYPE=INDEL;DBXREF=dbSNP:rs34379037,g1000:0.9459,GnomAD_AC_genome:28873,GnomAD_AN_genome:30830,GnomAD:0.9365;SGVEP=ADAMTSL4|+|NM_001288607|11|c.1818+53_1818+54insAA|.|intronic GT:DP:AD:DP4 1/1:65:1,64:1,0,29,35 1 150531008 133573098 T C 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=216;DEA=94;QA=37;PBP=2395;PBM=2308;TYPE=SNP;DBXREF=dbSNP:rs10888382,g1000:0.8145,esp5400:0.8646,ExAC:0.9070,clinvar:rs10888382,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:224505,GnomAD_AN_exome:246104,GnomAD_AC_genome:27116,GnomAD_AN_genome:30900,GnomAD:0.9084;SGVEP=ADAMTSL4|+|NM_001288607|16|c.2325T>C|p.(Asn775:)|synonymous GT:DP:AD:DP4 1/1:161:0,161:0,0,82,79 1 150531050 133573156 G A 2070 PASS VARTYPE=1;BGN=0.0013919;ARL=214;DER=102;DEA=101;QR=37;QA=36;PBP=1070;PBM=1015;TYPE=SNP;DBXREF=dbSNP:rs10749657,g1000:0.8784,esp5400:0.8411,ExAC:0.8670,clinvar:rs10749657,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:214280,GnomAD_AN_exome:246144,GnomAD_AC_genome:26518,GnomAD_AN_genome:30868,GnomAD:0.8693;SGVEP=ADAMTSL4|+|NM_001288607|16|c.2367G>A|p.(Pro789:)|synonymous GT:DP:AD:DP4 0/1:167:77,90:38,39,46,44 1 150531170 133573268 C T 2627 PASS VARTYPE=1;BGN=0.00115949;ARL=226;DEA=71;QA=37;PBP=1259;PBM=1376;TYPE=SNP;DBXREF=dbSNP:rs10749658,g1000:0.9215,esp5400:0.9162,ExAC:0.9760,GnomAD_AC_exome:240960,GnomAD_AN_exome:245534,GnomAD_AC_genome:28647,GnomAD_AN_genome:30886,GnomAD:0.9754;SGVEP=ADAMTSL4|+|NM_025008|15|c.2604C>T|p.(His868:)|synonymous GT:DP:AD:DP4 1/1:90:0,90:0,0,43,47 1 150531380 133573375 T C 527 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=263;DEA=123;QA=35;PBP=250;PBM=278;TYPE=SNP;DBXREF=dbSNP:rs11204664,g1000:0.5242,GnomAD_AC_genome:17319,GnomAD_AN_genome:30772,GnomAD:0.5628;SGVEP=ADAMTSL4|+|NM_001288607|17|c.2443-58T>C|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,9,10 1 150531905 133587887 C A 853 PASS VARTYPE=1;BGN=0.00115949;ARL=233;DER=68;DEA=87;QR=37;QA=37;PBP=408;PBM=454;TYPE=SNP;DBXREF=dbSNP:rs150225445,g1000:0.0030,esp5400:0.0105,ExAC:0.0093,PhyloP:-0.0670,SIFT:0.8100,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0020,MutationTaster:0.9510,GERP:-0.1180,clinvar:rs150225445,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:2296,GnomAD_AN_exome:243426,GnomAD_AC_genome:254,GnomAD_AN_genome:30898,GnomAD:0.0093;SGVEP=ADAMTSL4|+|NM_001288607|18|c.2789C>A|p.(Ala930Asp)|missense GT:DP:AD:DP4 0/1:92:54,38:26,28,18,20 1 150771703 133626677 T C 2569 PASS VARTYPE=1;BGN=0.00115949;ARL=225;DEA=109;QA=37;PBP=1259;PBM=1317;TYPE=SNP;DBXREF=dbSNP:rs10788796,g1000:0.9633,esp5400:0.9773,ExAC:0.9890,GnomAD_AC_exome:243804,GnomAD_AN_exome:246258,GnomAD_AC_genome:30312,GnomAD_AN_genome:30970,GnomAD:0.9888;SGVEP=CTSK|-|NM_000396|7|c.831A>G|p.(Ala277:)|synonymous GT:DP:AD:DP4 1/1:88:0,88:0,0,43,45 1 151039609 133692187 A G 257 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=243;DEA=8;QA=36;PBP=171;PBM=86;TYPE=SNP;DBXREF=dbSNP:rs3738481,g1000:0.8468,GnomAD_AC_genome:24828,GnomAD_AN_genome:30434,GnomAD:0.8158;SGVEP=MLLT11|+|NM_006818|2|c.-6-86A>G|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,6,3 1 151315287 133775123 G C 820 PASS VARTYPE=1;BGN=0.0013919;ARL=235;DER=105;DEA=110;QR=36;QA=36;PBP=454;PBM=376;TYPE=SNP;DBXREF=dbSNP:rs2233854,g1000:0.0635,esp5400:0.1156,ExAC:0.1190,PhyloP:0.7490,SIFT:0.9990,PolyPhen2:0.1200,PolyPhen2_HumDiv:0.6640,LRT:0.9370,MutationTaster:0.0160,GERP:3.2600,clinvar:rs2233854,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:28989,GnomAD_AN_exome:246114,GnomAD_AC_genome:3486,GnomAD_AN_genome:30918,GnomAD:0.1172;SGVEP=RFX5|-|NM_000449|11|c.1226C>G|p.(Pro409Arg)|missense GT:DP:AD:DP4 0/1:82:45,37:22,23,20,17 1 151316161 133775432 G A 2656 PASS VARTYPE=1;BGN=0.00115949;ARL=212;DEA=61;QA=37;PBP=1346;PBM=1317;TYPE=SNP;DBXREF=dbSNP:rs1752386,g1000:0.9780,esp5400:0.9758,ExAC:0.9930,clinvar:rs1752386,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:244173,GnomAD_AN_exome:245466,GnomAD_AC_genome:30233,GnomAD_AN_genome:30920,GnomAD:0.9928;SGVEP=RFX5|-|NM_000449|9|c.753C>T|p.(Leu251:)|synonymous GT:DP:AD:DP4 1/1:91:0,91:0,0,46,45 1 151377248 133790470 T C 586 off_target VARTYPE=1;BGN=0.00115949;ARL=232;DEA=57;QA=37;PBP=293;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs6667714,g1000:0.9758,esp5400:0.9710,ExAC:0.9920,GnomAD_AC_exome:200928,GnomAD_AN_exome:202348,GnomAD_AC_genome:29474,GnomAD_AN_genome:30268,GnomAD:0.9905;SGVEP=POGZ|-|NM_001194937|19|c.*30A>G|.|3'UTR GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 1 151380727 133792500 A G 2017 off_target VARTYPE=1;BGN=0.00115949;ARL=218;DER=9;DEA=83;QR=10;QA=37;PBP=996;PBM=1025;TYPE=SNP;DBXREF=dbSNP:rs2025899,g1000:0.0741,esp5400:0.0924,ExAC:0.1090,GnomAD_AC_exome:24274,GnomAD_AN_exome:113406,GnomAD_AC_genome:2773,GnomAD_AN_genome:29266,GnomAD:0.1896;SGVEP=POGZ|-|NM_001194937|15|c.2208-11T>C|.|intronic GT:DP:AD:DP4 1/1:69:0,69:0,0,34,35 1 152276149 133999295 C T 1564 PASS VARTYPE=1;BGN=0.00115949;ARL=217;DER=66;DEA=101;QR=35;QA=37;PBP=770;PBM=808;TYPE=SNP;DBXREF=dbSNP:rs77422831,g1000:0.2869,esp5400:0.1073,ExAC:0.2290,PhyloP:-0.5700,SIFT:0.7270,PolyPhen2:0.0650,PolyPhen2_HumDiv:0.7510,MutationTaster:0.0000,GERP:-2.2000,GnomAD_AC_exome:59496,GnomAD_AN_exome:246164,GnomAD_AC_genome:4231,GnomAD_AN_genome:30890,GnomAD:0.2300;SGVEP=FLG|-|NM_002016|3|c.11213G>A|p.(Arg3738His)|missense GT:DP:AD:DP4 0/1:135:68,67:36,32,33,34 1 152276278 133999496 G C 175 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=225;DER=103;DEA=57;QR=35;QA=38;PBP=90;PBM=91;SP=0;TYPE=SNP;DBXREF=dbSNP:rs557533254,g1000:0.0002,PhyloP:0.1640,SIFT:0.9980,PolyPhen2:0.9870,PolyPhen2_HumDiv:1.0000,MutationTaster:0.0000,GERP:0.6720;SGVEP=FLG|-|NM_002016|3|c.11084C>G|p.(Ser3695Cys)|missense GT:DP:AD:DP4 0/1:199:187,12:94,93,6,6 1 152276282 133999498 C G 182 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=226;DER=106;DEA=56;QR=36;QA=37;PBP=103;PBM=85;SP=0;TYPE=SNP;DBXREF=dbSNP:rs55707024,g1000:0.1819,esp5400:0.0140,PhyloP:-0.7380,SIFT:0.8240,PolyPhen2:0.8830,PolyPhen2_HumDiv:0.9950,MutationTaster:0.0000,GERP:-3.4600,GnomAD_AC_exome:1200,GnomAD_AN_exome:243916,GnomAD:0.0049;SGVEP=FLG|-|NM_002016|3|c.11080G>C|p.(Glu3694Gln)|missense GT:DP:AD:DP4 0/1:203:190,13:95,95,7,6 1 152276377 133999609 C G 716 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=231;DER=113;DEA=81;QR=36;QA=37;PBP=331;PBM=395;TYPE=SNP;DBXREF=dbSNP:rs75235053,esp5400:0.0206,PhyloP:-0.5470,SIFT:0.9960,PolyPhen2:0.7630,PolyPhen2_HumDiv:0.7070,MutationTaster:0.0000,GERP:-2.3600,GnomAD_AC_exome:2770,GnomAD_AN_exome:212776,GnomAD:0.0130;SGVEP=FLG|-|NM_002016|3|c.10985G>C|p.(Ser3662Thr)|missense GT:DP:AD:DP4 0/1:267:226,41:113,113,19,22 1 152276459 133999731 C T 764 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=220;DER=86;DEA=62;QR=37;QA=37;PBP=355;PBM=419;TYPE=SNP;DBXREF=dbSNP:rs75448155,esp5400:0.0864,PhyloP:2.4520,SIFT:0.9940,PolyPhen2:0.9690,PolyPhen2_HumDiv:0.9960,MutationTaster:0.0000,GERP:4.4200,GnomAD_AC_exome:18943,GnomAD_AN_exome:200636,GnomAD:0.0944;SGVEP=FLG|-|NM_002016|3|c.10903G>A|p.(Asp3635Asn)|missense GT:DP:AD:DP4 0/1:262:219,43:109,110,20,23 1 152276583 133999882 C G 774 PASS VARTYPE=1;BGN=0.00115949;ARL=230;DER=109;DEA=96;QR=36;QA=37;PBP=393;PBM=390;TYPE=SNP;DBXREF=dbSNP:rs12083389,g1000:0.3614,esp5400:0.1480,ExAC:0.0990,PhyloP:0.2540,SIFT:0.0000,PolyPhen2:0.0140,PolyPhen2_HumDiv:0.0140,MutationTaster:0.0000,GERP:2.5400,GnomAD_AC_exome:21509,GnomAD_AN_exome:220146,GnomAD:0.0977;SGVEP=FLG|-|NM_002016|3|c.10779G>C|p.(Glu3593Asp)|missense GT:DP:AD:DP4 0/1:104:68,36:33,35,18,18 1 152276598 133999894 G A 563 PASS VARTYPE=1;BGN=0.00115949;ARL=233;DER=107;DEA=114;QR=36;QA=37;PBP=263;PBM=308;TYPE=SNP;DBXREF=dbSNP:rs12742178,g1000:0.0887,esp5400:0.0104,GnomAD_AC_exome:12779,GnomAD_AN_exome:218584,GnomAD:0.0585;SGVEP=FLG|-|NM_002016|3|c.10764C>T|p.(His3588:)|synonymous GT:DP:AD:DP4 0/1:108:80,28:39,41,13,15 1 152276626 133999945 G C 507 PASS VARTYPE=1;BGN=0.000965875;ARL=223;DER=81;DEA=94;QR=37;QA=38;PBP=247;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs3126075,g1000:0.4778,esp5400:0.0976,ExAC:0.0770,PhyloP:-0.9910,SIFT:0.4180,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0100,MutationTaster:0.0000,GERP:-2.5200,GnomAD_AC_exome:16216,GnomAD_AN_exome:211120,GnomAD:0.0768;SGVEP=FLG|-|NM_002016|3|c.10736C>G|p.(Thr3579Arg)|missense GT:DP:AD:DP4 0/1:110:85,25:41,44,12,13 1 152276659 133999980 T C 112 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=224;DER=97;DEA=72;QR=37;QA=37;PBP=59;PBM=59;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7532285,g1000:0.2067,PhyloP:-1.5260,SIFT:0.0000,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0140,MutationTaster:0.0000,GERP:-6.3300,GnomAD_AC_exome:12950,GnomAD_AN_exome:180430,GnomAD:0.0718;SGVEP=FLG|-|NM_002016|3|c.10703A>G|p.(Gln3568Arg)|missense GT:DP:AD:DP4 0/1:133:125,8:62,63,4,4 1 152276660 133999984 G C 119 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=225;DER=96;DEA=73;QR=37;QA=38;PBP=62;PBM=62;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7540123,g1000:0.2067,PhyloP:0.6080,SIFT:0.5070,PolyPhen2:0.2260,PolyPhen2_HumDiv:0.7370,MutationTaster:0.0000,GERP:1.1400;SGVEP=FLG|-|NM_002016|3|c.10702C>G|p.(Gln3568Glu)|missense GT:DP:AD:DP4 0/1:132:124,8:62,62,4,4 1 152276671 134000011 C T 154 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=223;DER=101;DEA=68;QR=37;QA=38;PBP=80;PBM=80;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7518080,g1000:0.2564,PhyloP:-1.6110,SIFT:0.0000,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0450,MutationTaster:0.0000,GERP:-5.7700,GnomAD_AC_exome:14909,GnomAD_AN_exome:169692,GnomAD_AC_genome:1203,GnomAD_AN_genome:21994,GnomAD:0.0841;SGVEP=FLG|-|NM_002016|3|c.10691G>A|p.(Arg3564His)|missense GT:DP:AD:DP4 0/1:141:131,10:66,65,5,5 1 152276699 134000044 A G 306 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=224;DER=94;DEA=61;QR=36;QA=37;PBP=156;PBM=157;TYPE=SNP;DBXREF=dbSNP:rs12728605,esp5400:0.0653,PhyloP:-0.7640,SIFT:0.1600,PolyPhen2:0.1180,PolyPhen2_HumDiv:0.1120,MutationTaster:0.0000,GERP:-1.3700,GnomAD_AC_exome:19158,GnomAD_AN_exome:181046,GnomAD:0.1058;SGVEP=FLG|-|NM_002016|3|c.10663T>C|p.(Trp3555Arg)|missense GT:DP:AD:DP4 0/1:139:121,18:61,60,9,9 1 152276761 134000121 T C 110 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=225;DER=109;DEA=21;QR=36;QA=37;PBP=58;PBM=58;SP=0;TYPE=SNP;DBXREF=dbSNP:rs567405841,g1000:0.0046,ExAC:0.0009,PhyloP:-2.6970,SIFT:0.9810,PolyPhen2:0.7960,PolyPhen2_HumDiv:0.9330,MutationTaster:0.0000,GERP:-6.2100,GnomAD_AC_exome:54,GnomAD_AN_exome:242740,GnomAD:0.0002;SGVEP=FLG|-|NM_002016|3|c.10601A>G|p.(Asn3534Ser)|missense GT:DP:AD:DP4 0/1:141:133,8:67,66,4,4 1 152276762 134000129 T G 117 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=225;DER=108;DEA=20;QR=36;QA=38;PBP=61;PBM=62;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12732870,g1000:0.0018,ExAC:0.0000,PhyloP:-1.6580,SIFT:0.7000,PolyPhen2:0.1020,PolyPhen2_HumDiv:0.1820,MutationTaster:0.0000,GERP:-6.2100;SGVEP=FLG|-|NM_002016|3|c.10600A>C|p.(Asn3534His)|missense GT:DP:AD:DP4 0/1:140:132,8:68,64,4,4 1 152276770 134000134 G C 119 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=228;DER=113;DEA=12;QR=36;QA=38;PBP=63;PBM=62;SP=0;TYPE=SNP;DBXREF=dbSNP:rs751184419,PhyloP:0.1250,SIFT:0.9690,PolyPhen2:0.4440,PolyPhen2_HumDiv:0.5920,MutationTaster:0.0000,GERP:0.0290;SGVEP=FLG|-|NM_002016|3|c.10592C>G|p.(Thr3531Arg)|missense GT:DP:AD:DP4 0/1:132:124,8:60,64,4,4 1 152276772 134000137 C A 607 PASS VARTYPE=1;BGN=0.00115949;ARL=228;DER=95;DEA=98;QR=37;QA=37;PBP=320;PBM=296;TYPE=SNP;DBXREF=dbSNP:rs72697000,g1000:0.2905,esp5400:0.1088,ExAC:0.2340,PhyloP:-0.4370,SIFT:0.8270,PolyPhen2:0.9980,PolyPhen2_HumDiv:0.9980,MutationTaster:0.0000,GERP:-2.9700,GnomAD_AC_exome:60392,GnomAD_AN_exome:245930,GnomAD_AC_genome:3924,GnomAD_AN_genome:30530,GnomAD:0.2326;SGVEP=FLG|-|NM_002016|3|c.10590G>T|p.(Arg3530Ser)|missense GT:DP:AD:DP4 0/1:132:101,31:50,51,16,15 1 152276777 134000156 G A 106 low_variant_fraction VARTYPE=1;BGN=0.0013919;ARL=229;DER=114;DEA=5;QR=36;QA=36;PBP=56;PBM=55;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12746216,g1000:0.0270,ExAC:0.0001,PhyloP:-2.0280,SIFT:0.0050,PolyPhen2:0.1240,PolyPhen2_HumDiv:0.3790,MutationTaster:0.0000,GERP:-6.2900;SGVEP=FLG|-|NM_002016|3|c.10585C>T|p.(Pro3529Ser)|missense GT:DP:AD:DP4 0/1:135:127,8:61,66,4,4 1 152276871 134000326 A G 509 PASS VARTYPE=1;BGN=0.000965875;ARL=232;DER=109;DEA=108;QR=36;QA=38;PBP=223;PBM=295;TYPE=SNP;DBXREF=dbSNP:rs3126066,g1000:0.4471,esp5400:0.2566,ExAC:0.2780,GnomAD_AC_exome:69326,GnomAD_AN_exome:246006,GnomAD_AC_genome:8100,GnomAD_AN_genome:30562,GnomAD:0.2800;SGVEP=FLG|-|NM_002016|3|c.10491T>C|p.(Asp3497:)|synonymous GT:DP:AD:DP4 0/1:108:83,25:42,41,11,14 1 152276889 134000363 A G 561 PASS VARTYPE=1;BGN=0.00115949;ARL=229;DER=99;DEA=119;QR=36;QA=37;PBP=284;PBM=284;TYPE=SNP;DBXREF=dbSNP:rs3126067,g1000:0.5226,esp5400:0.3352,ExAC:0.3010,GnomAD_AC_exome:73888,GnomAD_AN_exome:246074,GnomAD_AC_genome:10089,GnomAD_AN_genome:30502,GnomAD:0.3036;SGVEP=FLG|-|NM_002016|3|c.10473T>C|p.(Asn3491:)|synonymous GT:DP:AD:DP4 0/1:110:82,28:41,41,14,14 1 152277055 134000622 C G 732 PASS VARTYPE=1;BGN=0.000965875;ARL=219;DER=101;DEA=98;QR=35;QA=38;PBP=371;PBM=371;TYPE=SNP;DBXREF=dbSNP:rs2065955,g1000:0.5142,esp5400:0.3331,ExAC:0.2990,PhyloP:-0.5630,SIFT:0.8680,PolyPhen2:0.7480,PolyPhen2_HumDiv:0.8760,MutationTaster:0.0000,GERP:-1.1400,GnomAD_AC_exome:72759,GnomAD_AN_exome:245860,GnomAD_AC_genome:9700,GnomAD_AN_genome:30172,GnomAD:0.2987;SGVEP=FLG|-|NM_002016|3|c.10307G>C|p.(Gly3436Ala)|missense GT:DP:AD:DP4 0/1:114:80,34:40,40,17,17 1 152277168 134000800 A G 1145 PASS VARTYPE=1;BGN=0.0013919;ARL=227;DER=99;DEA=110;QR=37;QA=36;PBP=607;PBM=549;TYPE=SNP;DBXREF=dbSNP:rs3091276,g1000:0.4736,esp5400:0.2603,ExAC:0.2840,GnomAD_AC_exome:70190,GnomAD_AN_exome:241336,GnomAD_AC_genome:8353,GnomAD_AN_genome:30038,GnomAD:0.2894;SGVEP=FLG|-|NM_002016|3|c.10194T>C|p.(Ser3398:)|synonymous GT:DP:AD:DP4 0/1:140:86,54:41,45,28,26 1 152277345 134001101 C T 1018 PASS VARTYPE=1;BGN=0.0013919;ARL=229;DER=98;DEA=119;QR=36;QA=36;PBP=513;PBM=516;TYPE=SNP;DBXREF=dbSNP:rs2065956,g1000:0.2875,esp5400:0.1072,ExAC:0.2290,GnomAD_AC_exome:59648,GnomAD_AN_exome:246256,GnomAD_AC_genome:4228,GnomAD_AN_genome:30854,GnomAD:0.2305;SGVEP=FLG|-|NM_002016|3|c.10017G>A|p.(Gln3339:)|synonymous GT:DP:AD:DP4 0/1:152:102,50:52,50,25,25 1 152277396 134001172 T C 1030 PASS VARTYPE=1;BGN=0.00115949;ARL=240;DER=109;DEA=119;QR=35;QA=37;PBP=501;PBM=539;TYPE=SNP;DBXREF=dbSNP:rs6681433,g1000:0.3411,esp5400:0.1558,ExAC:0.2610,GnomAD_AC_exome:66993,GnomAD_AN_exome:246248,GnomAD_AC_genome:5452,GnomAD_AN_genome:30764,GnomAD:0.2615;SGVEP=FLG|-|NM_002016|3|c.9966A>G|p.(Gln3322:)|synonymous GT:DP:AD:DP4 0/1:100:55,45:30,25,22,23 1 152277717 134001601 C A 1289 PASS VARTYPE=1;BGN=0.00115949;ARL=231;DER=110;DEA=63;QR=37;QA=37;PBP=622;PBM=679;TYPE=SNP;DBXREF=dbSNP:rs9436066,g1000:0.4696,esp5400:0.2513,GnomAD_AC_exome:74436,GnomAD_AN_exome:245922,GnomAD_AC_genome:8382,GnomAD_AN_genome:30330,GnomAD:0.2998;SGVEP=FLG|-|NM_002016|3|c.9645G>T|p.(Val3215:)|synonymous GT:DP:AD:DP4 0/1:143:85,58:44,41,28,30 1 152278434 134002285 T G 771 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=221;DER=95;DEA=117;QR=36;QA=37;PBP=362;PBM=420;TYPE=SNP;DBXREF=dbSNP:rs61816760,g1000:0.2873,esp5400:0.2684,PhyloP:-0.0880,SIFT:0.4920,PolyPhen2:0.2490,PolyPhen2_HumDiv:0.6250,MutationTaster:0.0000,GERP:0.0184;SGVEP=FLG|-|NM_002016|3|c.8928A>C|p.(Glu2976Asp)|missense GT:DP:AD:DP4 0/1:459:410,49:204,206,23,26 1 152278555 134002448 T C 779 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=226;DER=108;DEA=109;QR=36;QA=37;PBP=376;PBM=414;TYPE=SNP;DBXREF=dbSNP:rs80221306,esp5400:0.0920,PhyloP:0.8510,SIFT:0.7220,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0240,MutationTaster:0.0000,GERP:1.2900,GnomAD_AC_exome:47496,GnomAD_AN_exome:229998,GnomAD:0.2065;SGVEP=FLG|-|NM_002016|3|c.8807A>G|p.(Asp2936Gly)|missense GT:DP:AD:DP4 0/1:333:287,46:141,146,22,24 1 152278689 134002637 C A 2668 PASS VARTYPE=1;BGN=0.00115949;ARL=234;DER=115;DEA=113;QR=36;QA=37;PBP=1430;PBM=1262;TYPE=SNP;DBXREF=dbSNP:rs57672167,g1000:0.3964,esp5400:0.1796,ExAC:0.2690,GnomAD_AC_exome:67846,GnomAD_AN_exome:244008,GnomAD_AC_genome:5810,GnomAD_AN_genome:28340,GnomAD:0.2704;SGVEP=FLG|-|NM_002016|3|c.8673G>T|p.(Val2891:)|synonymous GT:DP:AD:DP4 0/1:322:199,123:101,98,65,58 1 152278814 134002893 C T 2065 PASS VARTYPE=1;BGN=0.00115949;ARL=220;DER=99;DEA=74;QR=37;QA=37;PBP=1065;PBM=1021;TYPE=SNP;DBXREF=dbSNP:rs2184952,esp5400:0.0595,PhyloP:-0.9150,SIFT:0.3540,PolyPhen2:0.1210,PolyPhen2_HumDiv:0.2210,MutationTaster:0.0000,GERP:-3.9100,GnomAD_AC_exome:11613,GnomAD_AN_exome:162164,GnomAD:0.0716;SGVEP=FLG|-|NM_002016|3|c.8548G>A|p.(Gly2850Ser)|missense GT:DP:AD:DP4 0/1:513:403,110:202,201,56,54 1 152278856 134003016 T G 961 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=223;DER=105;DEA=100;QR=36;QA=37;PBP=466;PBM=509;TYPE=SNP;DBXREF=dbSNP:rs11582087,esp5400:0.0835,PhyloP:-0.2040,SIFT:0.9200,PolyPhen2:0.0880,PolyPhen2_HumDiv:0.7970,MutationTaster:0.0000,GERP:-0.8450,GnomAD_AC_exome:40672,GnomAD_AN_exome:229078,GnomAD:0.1775;SGVEP=FLG|-|NM_002016|3|c.8506A>C|p.(Ser2836Arg)|missense GT:DP:AD:DP4 0/1:522:462,60:234,228,29,31 1 152279019 134003303 G A 1264 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=227;DER=108;DEA=118;QR=36;QA=37;PBP=694;PBM=586;TYPE=SNP;DBXREF=dbSNP:rs57670307,esp5400:0.0618,GnomAD_AC_exome:24400,GnomAD_AN_exome:198222,GnomAD:0.1231;SGVEP=FLG|-|NM_002016|3|c.8343C>T|p.(Asp2781:)|synonymous GT:DP:AD:DP4 0/1:536:461,75:227,234,40,35 1 152279406 134003811 T G 545 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=225;DER=98;DEA=94;QR=37;QA=37;PBP=278;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs192116923,g1000:0.1927,esp5400:0.1802,ExAC:0.2090,PhyloP:-0.8170,SIFT:0.6010,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0260,MutationTaster:0.0000,GERP:-3.4800,GnomAD_AC_exome:43441,GnomAD_AN_exome:158690,GnomAD_AC_genome:5988,GnomAD_AN_genome:18538,GnomAD:0.2789;SGVEP=FLG|-|NM_002016|3|c.7956A>C|p.(Glu2652Asp)|missense GT:DP:AD:DP4 0/1:393:357,36:176,181,18,18 1 152279527 134003930 T C 276 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=221;DER=107;DEA=68;QR=36;QA=37;PBP=151;PBM=133;TYPE=SNP;DBXREF=dbSNP:rs200423945,PhyloP:0.0400,SIFT:0.6800,PolyPhen2:0.2460,PolyPhen2_HumDiv:0.9490,MutationTaster:0.0000,GERP:0.2390;SGVEP=FLG|-|NM_002016|3|c.7835A>G|p.(Asp2612Gly)|missense GT:DP:AD:DP4 0/1:251:232,19:117,115,10,9 1 152279729 134004261 C T 1345 PASS VARTYPE=1;BGN=0.0013919;ARL=236;DER=115;DEA=105;QR=37;QA=36;PBP=726;PBM=631;TYPE=SNP;DBXREF=dbSNP:rs3126072,g1000:0.4748,esp5400:0.2821,ExAC:0.2970,PhyloP:-0.3600,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:0.7550,GnomAD_AC_exome:73882,GnomAD_AN_exome:245766,GnomAD_AC_genome:8587,GnomAD_AN_genome:30214,GnomAD:0.2988;SGVEP=FLG|-|NM_002016|3|c.7633G>A|p.(Gly2545Arg)|missense GT:DP:AD:DP4 0/1:146:84,62:43,41,33,29 1 152279841 134004452 G C 1540 PASS VARTYPE=1;BGN=0.0013919;ARL=225;DER=85;DEA=107;QR=37;QA=36;PBP=823;PBM=730;TYPE=SNP;DBXREF=dbSNP:rs3126074,g1000:0.4623,esp5400:0.2708,ExAC:0.2940,PhyloP:-1.4440,SIFT:0.1240,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-4.8700,GnomAD_AC_exome:73393,GnomAD_AN_exome:246238,GnomAD_AC_genome:8493,GnomAD_AN_genome:30680,GnomAD:0.2957;SGVEP=FLG|-|NM_002016|3|c.7521C>G|p.(His2507Gln)|missense GT:DP:AD:DP4 0/1:126:59,67:27,32,35,32 1 152279920 134004565 A G 1020 PASS VARTYPE=1;BGN=0.00115949;ARL=225;DER=103;DEA=98;QR=36;QA=37;PBP=501;PBM=529;TYPE=SNP;DBXREF=dbSNP:rs55650366,g1000:0.3425,esp5400:0.1577,ExAC:0.2610,PhyloP:-0.8830,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-1.6600,GnomAD_AC_exome:66861,GnomAD_AN_exome:246246,GnomAD_AC_genome:5478,GnomAD_AN_genome:30658,GnomAD:0.2612;SGVEP=FLG|-|NM_002016|3|c.7442T>C|p.(Leu2481Ser)|missense GT:DP:AD:DP4 0/1:104:59,45:30,29,22,23 1 152280032 134004783 T C 774 PASS VARTYPE=1;BGN=0.00115949;ARL=226;DER=94;DEA=106;QR=35;QA=37;PBP=420;PBM=364;TYPE=SNP;DBXREF=dbSNP:rs71625200,g1000:0.3431,esp5400:0.1559,ExAC:0.2610,PhyloP:0.3130,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:2.1000,GnomAD_AC_exome:66815,GnomAD_AN_exome:246110,GnomAD_AC_genome:5498,GnomAD_AN_genome:30740,GnomAD:0.2612;SGVEP=FLG|-|NM_002016|3|c.7330A>G|p.(Lys2444Glu)|missense GT:DP:AD:DP4 0/1:104:68,36:32,36,19,17 1 152280166 387167643 G C 950 PASS VARTYPE=1;BGN=0.00115949;ARL=221;DER=97;DEA=105;QR=36;QA=37;PBP=502;PBM=459;TYPE=SNP;DBXREF=PhyloP:0.8910,SIFT:0.9850,PolyPhen2:0.9560,PolyPhen2_HumDiv:0.9990,MutationTaster:0.0000,GERP:2.8300;SGVEP=FLG|-|NM_002016|3|c.7196C>G|p.(Ser2399Cys)|missense GT:DP:AD:DP4 0/1:191:143,48:73,70,25,23 1 152280170 134005010 C G 883 PASS VARTYPE=1;BGN=0.00115949;ARL=221;DER=100;DEA=105;QR=36;QA=37;PBP=458;PBM=436;TYPE=SNP;DBXREF=dbSNP:rs71625201,g1000:0.3305,esp5400:0.1539,ExAC:0.2580,PhyloP:-0.4080,SIFT:0.9140,PolyPhen2:0.0090,PolyPhen2_HumDiv:0.0410,MutationTaster:0.0000,GERP:-3.4600,GnomAD_AC_exome:63123,GnomAD_AN_exome:244840,GnomAD_AC_genome:4816,GnomAD_AN_genome:30268,GnomAD:0.2470;SGVEP=FLG|-|NM_002016|3|c.7192G>C|p.(Glu2398Gln)|missense GT:DP:AD:DP4 0/1:186:141,45:71,70,23,22 1 152280265 134005127 C G 587 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=217;DER=99;DEA=75;QR=36;QA=37;PBP=267;PBM=330;TYPE=SNP;DBXREF=dbSNP:rs71625202,esp5400:0.0943,PhyloP:0.9080,SIFT:0.9940,PolyPhen2:0.9650,PolyPhen2_HumDiv:0.9980,MutationTaster:0.0000,GERP:2.8400,GnomAD_AC_exome:51309,GnomAD_AN_exome:241034,GnomAD_AC_genome:3938,GnomAD_AN_genome:30384,GnomAD:0.2035;SGVEP=FLG|-|NM_002016|3|c.7097G>C|p.(Ser2366Thr)|missense GT:DP:AD:DP4 0/1:203:170,33:84,86,15,18 1 152280347 134005223 C T 351 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=217;DER=83;DEA=110;QR=37;QA=37;PBP=190;PBM=169;TYPE=SNP;DBXREF=dbSNP:rs139476473,esp5400:0.0268,PhyloP:2.2870,SIFT:0.9970,PolyPhen2:0.9420,PolyPhen2_HumDiv:0.9970,MutationTaster:0.0000,GERP:4.1200,GnomAD_AC_exome:30261,GnomAD_AN_exome:204568,GnomAD_AC_genome:4123,GnomAD_AN_genome:30482,GnomAD:0.1463;SGVEP=FLG|-|NM_002016|3|c.7015G>A|p.(Asp2339Asn)|missense GT:DP:AD:DP4 0/1:169:148,21:74,74,11,10 1 152280372 134005256 G A 750 PASS VARTYPE=1;BGN=0.00115949;ARL=219;DER=83;DEA=47;QR=37;QA=37;PBP=366;PBM=394;TYPE=SNP;DBXREF=dbSNP:rs6664985,g1000:0.4535,esp5400:0.1278,GnomAD_AC_exome:52311,GnomAD_AN_exome:206488,GnomAD_AC_genome:8395,GnomAD_AN_genome:30518,GnomAD:0.2561;SGVEP=FLG|-|NM_002016|3|c.6990C>T|p.(His2330:)|synonymous GT:DP:AD:DP4 0/1:176:137,39:71,66,19,20 1 152280471 134005387 C G 466 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=214;DER=91;DEA=81;QR=36;QA=38;PBP=214;PBM=260;TYPE=SNP;DBXREF=dbSNP:rs78179835,esp5400:0.1066,PhyloP:-0.4920,SIFT:0.0740,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-3.9500,GnomAD_AC_exome:43806,GnomAD_AN_exome:224962,GnomAD:0.1947;SGVEP=FLG|-|NM_002016|3|c.6891G>C|p.(Glu2297Asp)|missense GT:DP:AD:DP4 0/1:188:162,26:83,79,12,14 1 152280782 134005948 A G 1231 PASS VARTYPE=1;BGN=0.00115949;ARL=222;DER=106;DEA=96;QR=36;QA=37;PBP=636;PBM=607;TYPE=SNP;DBXREF=dbSNP:rs2184953,g1000:0.5397,esp5400:0.3480,ExAC:0.3170,PhyloP:-2.8900,SIFT:0.5200,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0030,MutationTaster:0.0000,GERP:-5.9800,GnomAD_AC_exome:77986,GnomAD_AN_exome:246176,GnomAD_AC_genome:10569,GnomAD_AN_genome:30776,GnomAD:0.3197;SGVEP=FLG|-|NM_002016|3|c.6580T>C|p.(Tyr2194His)|missense GT:DP:AD:DP4 0/1:110:57,53:28,29,27,26 1 152280864 134006049 A G 1086 PASS VARTYPE=1;BGN=0.0013919;ARL=217;DER=94;DEA=103;QR=37;QA=36;PBP=511;PBM=586;TYPE=SNP;DBXREF=dbSNP:rs2184954,g1000:0.4637,esp5400:0.2707,ExAC:0.2940,GnomAD_AC_exome:73429,GnomAD_AN_exome:246232,GnomAD_AC_genome:8584,GnomAD_AN_genome:30694,GnomAD:0.2962;SGVEP=FLG|-|NM_002016|3|c.6498T>C|p.(Ser2166:)|synonymous GT:DP:AD:DP4 0/1:130:79,51:40,39,24,27 1 152280900 134006119 T G 240 low_variant_fraction VARTYPE=1;BGN=0.00167091;ARL=218;DER=105;DEA=85;QR=37;QA=35;PBP=142;PBM=105;TYPE=SNP;DBXREF=dbSNP:rs74129452,g1000:0.3438,esp5400:0.2190,PhyloP:-3.8130,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-5.1800,GnomAD_AC_exome:57846,GnomAD_AN_exome:243616,GnomAD:0.2374;SGVEP=FLG|-|NM_002016|3|c.6462A>C|p.(Gln2154His)|missense GT:DP:AD:DP4 0/1:138:122,16:62,60,9,7 1 152281007 134006318 A G 551 low_variant_fraction VARTYPE=1;BGN=0.00167091;ARL=234;DER=105;DEA=99;QR=37;QA=35;PBP=301;PBM=258;TYPE=SNP;DBXREF=dbSNP:rs7512553,g1000:0.3277,esp5400:0.2016,PhyloP:-0.0570,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:1.2800,GnomAD_AC_exome:55227,GnomAD_AN_exome:246172,GnomAD_AC_genome:6487,GnomAD_AN_genome:30378,GnomAD:0.2232;SGVEP=FLG|-|NM_002016|3|c.6355T>C|p.(Tyr2119His)|missense GT:DP:AD:DP4 0/1:161:129,32:64,65,17,15 1 152281008 134006321 A G 580 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=234;DER=105;DEA=99;QR=37;QA=37;PBP=284;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs7512554,g1000:0.3277,esp5400:0.2009,GnomAD_AC_exome:55225,GnomAD_AN_exome:246158,GnomAD_AC_genome:6491,GnomAD_AN_genome:30424,GnomAD:0.2231;SGVEP=FLG|-|NM_002016|3|c.6354T>C|p.(His2118:)|synonymous GT:DP:AD:DP4 0/1:158:127,31:63,64,15,16 1 152281039 134006394 G A 799 PASS VARTYPE=1;BGN=0.0013919;ARL=232;DER=104;DEA=82;QR=37;QA=36;PBP=427;PBM=382;TYPE=SNP;DBXREF=dbSNP:rs7522925,esp5400:0.2128,PhyloP:-1.3460,SIFT:0.8850,PolyPhen2:0.0210,PolyPhen2_HumDiv:0.3240,MutationTaster:0.0000,GERP:-6.7400,GnomAD_AC_exome:55263,GnomAD_AN_exome:246182,GnomAD_AC_genome:6508,GnomAD_AN_genome:30516,GnomAD:0.2232;SGVEP=FLG|-|NM_002016|3|c.6323C>T|p.(Ala2108Val)|missense GT:DP:AD:DP4 0/1:168:126,42:63,63,22,20 1 152281228 134006701 C G 571 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=219;DER=108;DEA=70;QR=36;QA=37;PBP=268;PBM=312;TYPE=SNP;DBXREF=dbSNP:rs7546186,esp5400:0.2009,PhyloP:0.7260,SIFT:0.8890,PolyPhen2:0.7220,PolyPhen2_HumDiv:0.8990,MutationTaster:0.0000,GERP:2.3700,GnomAD_AC_exome:52352,GnomAD_AN_exome:240966,GnomAD_AC_genome:6302,GnomAD_AN_genome:30356,GnomAD:0.2162;SGVEP=FLG|-|NM_002016|3|c.6134G>C|p.(Ser2045Thr)|missense GT:DP:AD:DP4 0/1:195:163,32:82,81,15,17 1 152281290 134006775 A G 330 low_variant_fraction VARTYPE=1;BGN=0.00167091;ARL=213;DER=101;DEA=109;QR=36;QA=35;PBP=170;PBM=169;TYPE=SNP;DBXREF=dbSNP:rs80353812,g1000:0.3281,esp5400:0.1814,GnomAD_AC_exome:54468,GnomAD_AN_exome:244650,GnomAD:0.2226;SGVEP=FLG|-|NM_002016|3|c.6072T>C|p.(His2024:)|synonymous GT:DP:AD:DP4 0/1:182:160,22:79,81,11,11 1 152281304 134006799 A C 411 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=216;DER=106;DEA=101;QR=35;QA=37;PBP=211;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs7512857,esp5400:0.2016,PhyloP:0.1030,SIFT:0.9490,PolyPhen2:0.9290,PolyPhen2_HumDiv:0.9980,MutationTaster:0.0000,GERP:1.1300,GnomAD_AC_exome:54641,GnomAD_AN_exome:245734,GnomAD_AC_genome:6168,GnomAD_AN_genome:30280,GnomAD:0.2203;SGVEP=FLG|-|NM_002016|3|c.6058T>G|p.(Ser2020Ala)|missense GT:DP:AD:DP4 0/1:175:151,24:74,77,12,12 1 152281479 134006988 G T 1742 PASS VARTYPE=1;BGN=0.00115949;ARL=224;DER=98;DEA=98;QR=37;QA=37;PBP=828;PBM=928;TYPE=SNP;DBXREF=dbSNP:rs3126079,g1000:0.5381,esp5400:0.3481,ExAC:0.3170,PhyloP:-3.8680,SIFT:0.1690,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-4.7500,GnomAD_AC_exome:77903,GnomAD_AN_exome:246212,GnomAD_AC_genome:10576,GnomAD_AN_genome:30844,GnomAD:0.3194;SGVEP=FLG|-|NM_002016|3|c.5883C>A|p.(His1961Gln)|missense GT:DP:AD:DP4 0/1:126:54,72:26,28,34,38 1 152281523 134007053 A C 412 low_variant_fraction VARTYPE=1;BGN=0.00115949;ARL=228;DER=107;DEA=74;QR=36;QA=37;PBP=190;PBM=230;TYPE=SNP;DBXREF=dbSNP:rs80059102,esp5400:0.0299,PhyloP:0.1610,SIFT:0.9020,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:0.6160,GnomAD_AC_exome:43988,GnomAD_AN_exome:223658,GnomAD:0.1967;SGVEP=FLG|-|NM_002016|3|c.5839T>G|p.(Trp1947Gly)|missense GT:DP:AD:DP4 0/1:115:93,22:44,49,10,12 1 152281534 134007066 A T 365 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=229;DER=112;DEA=74;QR=36;QA=38;PBP=176;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs113544881,g1000:0.3135,esp5400:0.0361,PhyloP:-0.2670,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:0.2090,GnomAD_AC_exome:30403,GnomAD_AN_exome:197526,GnomAD_AC_genome:5188,GnomAD_AN_genome:28470,GnomAD:0.1575;SGVEP=FLG|-|NM_002016|3|c.5828T>A|p.(Leu1943His)|missense GT:DP:AD:DP4 0/1:107:88,19:43,45,9,10 1 152281621 134007152 T C 899 PASS VARTYPE=1;BGN=0.00115949;ARL=233;DER=77;DEA=119;QR=37;QA=37;PBP=480;PBM=429;TYPE=SNP;DBXREF=dbSNP:rs34806697,g1000:0.0369,esp5400:0.0680,ExAC:0.0670,PhyloP:-2.3820,SIFT:0.0000,PolyPhen2:0.0320,PolyPhen2_HumDiv:0.0210,MutationTaster:0.0000,GERP:-6.9000,GnomAD_AC_exome:16710,GnomAD_AN_exome:246242,GnomAD_AC_genome:2100,GnomAD_AN_genome:30624,GnomAD:0.0679;SGVEP=FLG|-|NM_002016|3|c.5741A>G|p.(Gln1914Arg)|missense GT:DP:AD:DP4 0/1:96:56,40:28,28,21,19 1 152281690 134007244 C T 784 PASS VARTYPE=1;BGN=0.00115949;ARL=232;DER=109;DEA=106;QR=36;QA=37;PBP=410;PBM=382;TYPE=SNP;DBXREF=dbSNP:rs12407748,g1000:0.2875,esp5400:0.1073,ExAC:0.2290,PhyloP:-1.0130,SIFT:0.5450,PolyPhen2:0.1720,PolyPhen2_HumDiv:0.6650,MutationTaster:0.0000,GERP:-3.5700,GnomAD_AC_exome:59499,GnomAD_AN_exome:246252,GnomAD_AC_genome:4209,GnomAD_AN_genome:30802,GnomAD:0.2299;SGVEP=FLG|-|NM_002016|3|c.5672G>A|p.(Arg1891Gln)|missense GT:DP:AD:DP4 0/1:86:51,35:25,26,18,17 1 152281948 134007475 G A 643 PASS VARTYPE=1;BGN=0.00115949;ARL=237;DER=114;DEA=106;QR=36;QA=37;PBP=336;PBM=315;TYPE=SNP;DBXREF=dbSNP:rs12405241,g1000:0.2875,esp5400:0.1070,ExAC:0.2290,PhyloP:-0.9030,SIFT:0.7370,PolyPhen2:0.9590,PolyPhen2_HumDiv:0.9990,MutationTaster:0.0000,GERP:-3.5600,GnomAD_AC_exome:59477,GnomAD_AN_exome:246194,GnomAD_AC_genome:4217,GnomAD_AN_genome:30746,GnomAD:0.2300;SGVEP=FLG|-|NM_002016|3|c.5414C>T|p.(Ala1805Val)|missense GT:DP:AD:DP4 0/1:75:46,29:24,22,15,14 1 152282267 134007789 G A 678 PASS VARTYPE=1;BGN=0.00115949;ARL=233;DER=101;DEA=94;QR=37;QA=37;PBP=344;PBM=342;TYPE=SNP;DBXREF=dbSNP:rs12405278,g1000:0.2877,esp5400:0.1071,ExAC:0.2290,PhyloP:0.4820,SIFT:0.9980,PolyPhen2:0.9120,PolyPhen2_HumDiv:0.9990,MutationTaster:0.0000,GERP:1.7600,GnomAD_AC_exome:59487,GnomAD_AN_exome:246236,GnomAD_AC_genome:4225,GnomAD_AN_genome:30854,GnomAD:0.2299;SGVEP=FLG|-|NM_002016|3|c.5095C>T|p.(Arg1699Cys)|missense GT:DP:AD:DP4 0/1:99:67,32:33,34,16,16 1 152282311 134007829 C T 451 PASS VARTYPE=1;BGN=0.0013919;ARL=241;DER=103;DEA=108;QR=37;QA=36;PBP=195;PBM=264;TYPE=SNP;DBXREF=dbSNP:rs12407807,g1000:0.2967,esp5400:0.1184,ExAC:0.2320,PhyloP:-0.9960,SIFT:0.8160,PolyPhen2:0.9740,PolyPhen2_HumDiv:0.9990,MutationTaster:0.0000,GERP:-5.0100,GnomAD_AC_exome:60091,GnomAD_AN_exome:246254,GnomAD_AC_genome:4507,GnomAD_AN_genome:30886,GnomAD:0.2331;SGVEP=FLG|-|NM_002016|3|c.5051G>A|p.(Arg1684His)|missense GT:DP:AD:DP4 0/1:85:62,23:31,31,10,13 1 152282917 134012931 G T 904 PASS VARTYPE=1;BGN=0.0013919;ARL=232;DER=105;DEA=106;QR=37;QA=36;PBP=432;PBM=481;TYPE=SNP;DBXREF=dbSNP:rs11204978,g1000:0.2871,esp5400:0.1071,ExAC:0.2290,PhyloP:0.1920,SIFT:0.9950,PolyPhen2:0.3410,PolyPhen2_HumDiv:0.7670,MutationTaster:0.0000,GERP:0.6700,GnomAD_AC_exome:59462,GnomAD_AN_exome:246152,GnomAD_AC_genome:4218,GnomAD_AN_genome:30810,GnomAD:0.2299;SGVEP=FLG|-|NM_002016|3|c.4445C>A|p.(Ser1482Tyr)|missense GT:DP:AD:DP4 0/1:104:62,42:31,31,20,22 1 152283236 134013363 T C 2220 PASS VARTYPE=1;BGN=0.0013919;ARL=228;DER=106;DEA=116;QR=37;QA=36;PBP=1051;PBM=1185;TYPE=SNP;DBXREF=dbSNP:rs11581433,g1000:0.3431,esp5400:0.1571,PhyloP:-0.9550,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-4.4600,GnomAD_AC_exome:66962,GnomAD_AN_exome:246240,GnomAD_AC_genome:5512,GnomAD_AN_genome:30874,GnomAD:0.2615;SGVEP=FLG|-|NM_002016|3|c.4126A>G|p.(Arg1376Gly)|missense GT:DP:AD:DP4 0/1:166:71,95:36,35,45,50 1 152283283 134013416 C T 1903 PASS VARTYPE=1;BGN=0.00115949;ARL=230;DER=98;DEA=106;QR=36;QA=37;PBP=842;PBM=1076;TYPE=SNP;DBXREF=dbSNP:rs11586631,g1000:0.2877,esp5400:0.1070,ExAC:0.2290,PhyloP:-1.8370,SIFT:0.5290,PolyPhen2:0.0510,PolyPhen2_HumDiv:0.4060,MutationTaster:0.0000,GERP:-7.5600,GnomAD_AC_exome:59486,GnomAD_AN_exome:246116,GnomAD_AC_genome:4230,GnomAD_AN_genome:30814,GnomAD:0.2301;SGVEP=FLG|-|NM_002016|3|c.4079G>A|p.(Arg1360His)|missense GT:DP:AD:DP4 0/1:158:77,81:38,39,36,45 1 152283862 134014275 G C 959 PASS VARTYPE=1;BGN=0.00115949;ARL=228;DER=90;DEA=109;QR=36;QA=37;PBP=518;PBM=451;TYPE=SNP;DBXREF=dbSNP:rs58001094,g1000:0.5341,esp5400:0.3203,ExAC:0.3060,PhyloP:-1.8650,SIFT:0.0000,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0110,MutationTaster:0.0000,GERP:-5.5300,GnomAD_AC_exome:75420,GnomAD_AN_exome:245216,GnomAD_AC_genome:10418,GnomAD_AN_genome:30646,GnomAD:0.3112;SGVEP=FLG|-|NM_002016|3|c.3500C>G|p.(Ala1167Gly)|missense GT:DP:AD:DP4 0/1:133:88,45:46,42,24,21 1 152283975 134014443 A G 1601 PASS VARTYPE=1;BGN=0.00115949;ARL=205;DER=89;DEA=105;QR=37;QA=37;PBP=717;PBM=899;TYPE=SNP;DBXREF=dbSNP:rs66831674,g1000:0.4631,esp5400:0.2605,ExAC:0.2940,GnomAD_AC_exome:73377,GnomAD_AN_exome:246152,GnomAD_AC_genome:8493,GnomAD_AN_genome:30730,GnomAD:0.2957;SGVEP=FLG|-|NM_002016|3|c.3387T>C|p.(Ser1129:)|synonymous GT:DP:AD:DP4 0/1:188:115,73:59,56,33,40 1 152284424 134015063 G C 115 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=227;DER=100;DEA=55;QR=36;QA=38;PBP=60;PBM=60;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12756586,g1000:0.0339,esp5400:0.0210,PhyloP:-1.1360,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-6.6100,clinvar:rs12756586,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:5765,GnomAD_AN_exome:244672,GnomAD_AC_genome:594,GnomAD_AN_genome:27954,GnomAD:0.0233;SGVEP=FLG|-|NM_002016|3|c.2938C>G|p.(His980Asp)|missense GT:DP:AD:DP4 0/1:148:140,8:69,71,4,4 1 152284854 134015960 A G 548 PASS VARTYPE=1;BGN=0.0013919;ARL=233;DER=104;DEA=121;QR=36;QA=36;PBP=288;PBM=269;TYPE=SNP;DBXREF=dbSNP:rs3120653,g1000:0.4732,esp5400:0.2835,ExAC:0.2980,GnomAD_AC_exome:74095,GnomAD_AN_exome:246096,GnomAD_AC_genome:8551,GnomAD_AN_genome:30246,GnomAD:0.2991;SGVEP=FLG|-|NM_002016|3|c.2508T>C|p.(Asp836:)|synonymous GT:DP:AD:DP4 0/1:86:59,27:31,28,14,13 1 152285099 134016484 C T 1432 PASS VARTYPE=1;BGN=0.0013919;ARL=220;DER=100;DEA=92;QR=37;QA=36;PBP=698;PBM=746;TYPE=SNP;DBXREF=dbSNP:rs74129461,g1000:0.3277,esp5400:0.1385,ExAC:0.2560,PhyloP:0.4390,SIFT:0.9300,PolyPhen2:0.2240,PolyPhen2_HumDiv:0.8080,MutationTaster:0.0000,GERP:1.0200,clinvar:rs74129461,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:65855,GnomAD_AN_exome:246266,GnomAD_AC_genome:4989,GnomAD_AN_genome:30800,GnomAD:0.2557;SGVEP=FLG|-|NM_002016|3|c.2263G>A|p.(Glu755Lys)|missense GT:DP:AD:DP4 0/1:155:89,66:44,45,32,34 1 152285425 134017091 T C 109 low_variant_fraction VARTYPE=1;BGN=0.0013919;ARL=225;DER=107;DEA=103;QR=37;QA=36;PBP=57;PBM=58;SP=0;TYPE=SNP;DBXREF=dbSNP:rs768275109,esp5400:0.0001,PhyloP:-0.8320,SIFT:0.8590,PolyPhen2:0.0210,PolyPhen2_HumDiv:0.0300,MutationTaster:0.0000,GERP:-6.2100,GnomAD_AC_exome:8,GnomAD_AN_exome:246260,GnomAD_AC_genome:1,GnomAD_AN_genome:30880,GnomAD:0.0000;SGVEP=FLG|-|NM_002016|3|c.1937A>G|p.(His646Arg)|missense GT:DP:AD:DP4 0/1:123:115,8:59,56,4,4 1 152285930 134018091 G A 911 PASS VARTYPE=1;BGN=0.0013919;ARL=225;DER=110;DEA=111;QR=36;QA=36;PBP=426;PBM=495;TYPE=SNP;DBXREF=dbSNP:rs11584340,g1000:0.3446,esp5400:0.1585,ExAC:0.2610,PhyloP:-1.3500,SIFT:0.0000,PolyPhen2:0.0340,PolyPhen2_HumDiv:0.0200,MutationTaster:0.0000,GERP:-3.1200,GnomAD_AC_exome:66900,GnomAD_AN_exome:246144,GnomAD_AC_genome:5543,GnomAD_AN_genome:30816,GnomAD:0.2616;SGVEP=FLG|-|NM_002016|3|c.1432C>T|p.(Pro478Ser)|missense GT:DP:AD:DP4 0/1:113:70,43:34,36,20,23 1 152286002 134018219 T C 819 PASS VARTYPE=1;BGN=0.0013919;ARL=223;DER=109;DEA=95;QR=36;QA=36;PBP=416;PBM=412;TYPE=SNP;DBXREF=dbSNP:rs2011331,g1000:0.4641,esp5400:0.2715,ExAC:0.2950,PhyloP:-3.0860,SIFT:0.6300,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0400,MutationTaster:0.0000,GERP:-6.8600,GnomAD_AC_exome:73573,GnomAD_AN_exome:246250,GnomAD_AC_genome:8564,GnomAD_AN_genome:30826,GnomAD:0.2964;SGVEP=FLG|-|NM_002016|3|c.1360A>G|p.(Thr454Ala)|missense GT:DP:AD:DP4 0/1:94:56,38:27,29,19,19 1 152286032 134018283 C T 989 PASS VARTYPE=1;BGN=0.00115949;ARL=222;DER=105;DEA=106;QR=37;QA=37;PBP=501;PBM=498;TYPE=SNP;DBXREF=dbSNP:rs11588170,g1000:0.2871,esp5400:0.1072,ExAC:0.2290,PhyloP:-0.1070,SIFT:0.7320,PolyPhen2:0.8160,PolyPhen2_HumDiv:0.9420,MutationTaster:0.0000,GERP:-0.6150,GnomAD_AC_exome:59464,GnomAD_AN_exome:246252,GnomAD_AC_genome:4213,GnomAD_AN_genome:30842,GnomAD:0.2298;SGVEP=FLG|-|NM_002016|3|c.1330G>A|p.(Gly444Arg)|missense GT:DP:AD:DP4 0/1:105:61,44:30,31,22,22 1 152286367 134018906 C A 1096 PASS VARTYPE=1;BGN=0.00115949;ARL=227;DER=101;DEA=110;QR=35;QA=37;PBP=554;PBM=551;TYPE=SNP;DBXREF=dbSNP:rs41267154,g1000:0.3407,esp5400:0.1559,ExAC:0.2600,PhyloP:0.2000,SIFT:0.9110,PolyPhen2:0.9950,PolyPhen2_HumDiv:1.0000,MutationTaster:0.0000,GERP:1.2000,GnomAD_AC_exome:66758,GnomAD_AN_exome:246214,GnomAD_AC_genome:5466,GnomAD_AN_genome:30876,GnomAD:0.2607;SGVEP=FLG|-|NM_002016|3|c.995G>T|p.(Gly332Val)|missense GT:DP:AD:DP4 0/1:87:41,46:20,21,23,23 1 152484129 134069849 G A 628 PASS VARTYPE=1;BGN=0.00115949;ARL=215;DER=62;DEA=86;QR=35;QA=37;PBP=315;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs2105117,g1000:0.5220,esp5400:0.5365,ExAC:0.6100,PhyloP:0.3240,SIFT:0.9760,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0140,MutationTaster:0.0000,GERP:0.8980,GnomAD_AC_exome:151551,GnomAD_AN_exome:246198,GnomAD_AC_genome:17671,GnomAD_AN_genome:30860,GnomAD:0.6108;SGVEP=LCE5A|+|NM_178438|2|c.119G>A|p.(Cys40Tyr)|missense GT:DP:AD:DP4 0/1:69:41,28:22,19,14,14 1 153234295 134228865 G A 10000 PASS VARTYPE=1;BGN=0.0013919;ARL=212;DER=52;DEA=105;QR=9;QA=36;PBP=1822;PBM=2219;TYPE=SNP;DBXREF=dbSNP:rs12043009,g1000:0.1943,esp5400:0.2108,ExAC:0.1800,PhyloP:-0.5480,MutationTaster:0.0040,GERP:-1.4500,GnomAD_AC_exome:41366,GnomAD_AN_exome:230354,GnomAD_AC_genome:7712,GnomAD_AN_genome:30790,GnomAD:0.1879;SGVEP=LOR|+|NM_000427|2|c.870G>A|p.(Gly290:)|synonymous GT:DP:AD:DP4 1/1:142:0,142:0,0,64,78 1 154141908 134458930 A G 259 off_target VARTYPE=1;BGN=0.0013919;ARL=237;DER=60;DEA=60;QR=38;QA=36;PBP=119;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs4845364,g1000:0.7322,esp5400:0.6041,ExAC:0.6060,clinvar:rs4845364,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:148843,GnomAD_AN_exome:245080,GnomAD_AC_genome:19159,GnomAD_AN_genome:30898,GnomAD:0.6088;SGVEP=TPM3|-|NM_001043351|7|c.664+968T>C|.|intronic GT:DP:AD:DP4 0/1:21:10,11:5,5,5,6 1 154245917 134480377 T C 1827 PASS VARTYPE=1;BGN=0.00115949;ARL=210;DER=87;DEA=84;QR=37;QA=37;PBP=961;PBM=880;TYPE=SNP;DBXREF=dbSNP:rs13796,g1000:0.0753,esp5400:0.0957,ExAC:0.1140,clinvar:rs13796,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:28442,GnomAD_AN_exome:246154,GnomAD_AC_genome:2962,GnomAD_AN_genome:30932,GnomAD:0.1133;SGVEP=HAX1|+|NM_006118|2|c.159T>C|p.(Ser53:)|synonymous GT:DP:AD:DP4 0/1:164:85,79:42,43,41,38 1 154401972 134506185 T C 456 off_target VARTYPE=1;BGN=0.0013919;ARL=231;DER=39;DEA=45;QR=36;QA=36;PBP=172;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs6694817,g1000:0.5699,esp5400:0.6151,ExAC:0.5610,GnomAD_AC_exome:124003,GnomAD_AN_exome:218832,GnomAD_AC_genome:17981,GnomAD_AN_genome:30868,GnomAD:0.5686;SGVEP=IL6R|+|NM_000565|2|c.334+52T>C|.|intronic GT:DP:AD:DP4 0/1:52:31,21:15,16,8,13 1 154407419 134507015 A C 573 off_target VARTYPE=1;BGN=0.00115949;ARL=225;DER=77;DEA=40;QR=37;QA=37;PBP=303;PBM=277;TYPE=SNP;DBXREF=dbSNP:rs7518199,g1000:0.3275,esp5400:0.3475,ExAC:0.3820,GnomAD_AC_exome:92269,GnomAD_AN_exome:234766,GnomAD_AC_genome:10297,GnomAD_AN_genome:30780,GnomAD:0.3862;SGVEP=IL6R|+|NM_000565|5|c.641-47A>C|.|intronic GT:DP:AD:DP4 0/1:57:32,25:16,16,13,12 1 154407713 134507148 T C 203 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=280;DER=55;DEA=65;QR=38;QA=38;PBP=105;PBM=102;TYPE=SNP;DBXREF=dbSNP:rs7521458,g1000:0.3001,GnomAD_AC_genome:9559,GnomAD_AN_genome:30836,GnomAD:0.3100;SGVEP=IL6R|+|NM_000565|5|c.807+81T>C|.|intronic GT:DP:AD:DP4 0/1:15:7,8:3,4,4,4 1 154426970 106051 A C 581 PASS VARTYPE=1;BGN=0.0013919;ARL=208;DER=73;DEA=77;QR=35;QA=36;PBP=296;PBM=292;TYPE=SNP;DBXREF=dbSNP:rs2228145,g1000:0.2931,esp5400:0.3161,ExAC:0.3690,PhyloP:0.6620,SIFT:0.7580,PolyPhen2:0.0200,PolyPhen2_HumDiv:0.1230,LRT:0.0000,MutationTaster:1.0000,GERP:2.8500,clinvar:rs2228145,CLNSIG:association,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:92689,GnomAD_AN_exome:244492,GnomAD_AC_genome:9343,GnomAD_AN_genome:30696,GnomAD:0.3708;SGVEP=IL6R|+|NM_000565|9|c.1073A>C|p.(Asp358Ala)|missense GT:DP:AD:DP4 0/1:39:15,24:7,8,12,12 1 154437896 134512699 T C 1434 off_target VARTYPE=1;BGN=0.00115949;ARL=241;DEA=39;QA=37;PBP=616;PBM=820;TYPE=SNP;DBXREF=dbSNP:rs2229238,g1000:0.7969,esp5400:0.8037,ExAC:0.7960,GnomAD_AC_exome:192493,GnomAD_AN_exome:242058,GnomAD_AC_genome:24060,GnomAD_AN_genome:30922,GnomAD:0.7933;SGVEP=IL6R|+|NM_000565|10|c.*40T>C|.|3'UTR GT:DP:AD:DP4 1/1:49:0,49:0,0,21,28 1 154557685 134542680 C T 2395 off_target VARTYPE=1;BGN=0.00115949;ARL=216;DEA=56;QA=37;PBP=1259;PBM=1142;TYPE=SNP;DBXREF=dbSNP:rs9427094,g1000:0.3888,esp5400:0.3959,ExAC:0.4630,clinvar:rs9427094,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:114781,GnomAD_AN_exome:246216,GnomAD_AC_genome:12731,GnomAD_AN_genome:30838,GnomAD:0.4602;SGVEP=ADAR|-|NM_001025107|14|c.2558+8G>A|.|intronic GT:DP:AD:DP4 1/1:82:0,82:0,0,43,39 1 154562624 134545580 CG C 203 off_target VARTYPE=1;BGN=0.00115949;ARL=228;DER=48;DEA=69;QR=35;QA=37;PBP=105;PBM=109;TYPE=INDEL;DBXREF=dbSNP:rs201932953,g1000:0.5349;SGVEP=ADAR|-|NM_001025107|7|c.1611+35del|.|intronic GT:DP:AD:DP4 0/1:41:27,10:15,12,5,5 1 154562625 134545590 G C 618 off_target VARTYPE=1;BGN=0.00167091;ARL=225;DEA=50;QA=35;PBP=416;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs7532276,g1000:0.4611,esp5400:0.9958,GnomAD_AC_genome:26092,GnomAD_AN_genome:27742,GnomAD:0.9405;SGVEP=ADAR|-|NM_001025107|7|c.1611+35C>G|.|intronic GT:DP:AD:DP4 0/1:40:0,26:0,0,15,11 1 154562629 134545666 C A 558 off_target VARTYPE=1;BGN=0.0013919;ARL=228;DER=33;DEA=73;QR=30;QA=36;PBP=292;PBM=273;TYPE=SNP;DBXREF=dbSNP:rs60407842,g1000:0.0889,GnomAD_AC_genome:2837,GnomAD_AN_genome:28374,GnomAD:0.1000;SGVEP=ADAR|-|NM_001025107|7|c.1611+31G>T|.|intronic GT:DP:AD:DP4 0/1:37:14,23:8,6,12,11 1 154573967 106250 T C 2337 PASS VARTYPE=1;BGN=0.00115949;ARL=224;DEA=104;QA=37;PBP=1200;PBM=1142;TYPE=SNP;DBXREF=dbSNP:rs2229857,g1000:0.6226,esp5400:0.6046,ExAC:0.6960,PhyloP:-0.0360,SIFT:0.7050,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:0.0100,MutationTaster:0.0000,GERP:-0.8120,clinvar:rs2229857,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:173214,GnomAD_AN_exome:246218,GnomAD_AC_genome:19398,GnomAD_AN_genome:30892,GnomAD:0.6951;SGVEP=ADAR|-|NM_001025107|2|c.266A>G|p.(Lys89Arg)|missense GT:DP:AD:DP4 1/1:80:0,80:0,0,41,39 1 154574820 134550057 T C 1959 PASS VARTYPE=1;BGN=0.00115949;ARL=228;DEA=104;QA=37;PBP=1025;PBM=937;TYPE=SNP;DBXREF=dbSNP:rs1466731,g1000:0.9962,esp5400:0.9955,ExAC:0.9990,PhyloP:-1.0030,SIFT:0.2170,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0010,MutationTaster:0.0000,GERP:-2.8200,GnomAD_AC_exome:242247,GnomAD_AN_exome:242514,GnomAD_AC_genome:30857,GnomAD_AN_genome:30954,GnomAD:0.9987;SGVEP=ADAR|-|NM_001111|2|c.298A>G|p.(Arg100Gly)|missense GT:DP:AD:DP4 1/1:67:0,67:0,0,35,32 1 154575040 134550233 C T 1765 PASS VARTYPE=1;BGN=0.0013919;ARL=239;DEA=89;QA=36;PBP=912;PBM=855;TYPE=SNP;DBXREF=dbSNP:rs1802645,g1000:0.9970,esp5400:0.9972,ExAC:0.9990,clinvar:rs1802645,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:245594,GnomAD_AN_exome:245782,GnomAD_AC_genome:30901,GnomAD_AN_genome:30968,GnomAD:0.9991;SGVEP=ADAR|-|NM_001111|2|c.78G>A|p.(Arg26:)|synonymous GT:DP:AD:DP4 1/1:62:0,62:0,0,32,30 1 154744807 134586011 C G 2714 PASS VARTYPE=1;BGN=0.00115949;ARL=227;DEA=97;QA=37;PBP=1346;PBM=1376;TYPE=SNP;DBXREF=dbSNP:rs1051614,g1000:0.5353,esp5400:0.5811,ExAC:0.5800,clinvar:rs1051614,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:142443,GnomAD_AN_exome:245022,GnomAD_AC_genome:17408,GnomAD_AN_genome:30914,GnomAD:0.5793;SGVEP=KCNN3|-|NM_001204087|3|c.1092G>C|p.(Leu364:)|synonymous GT:DP:AD:DP4 1/1:93:0,93:0,0,46,47 1 154744852 134586051 A G 1813 PASS VARTYPE=1;BGN=0.00115949;ARL=231;DEA=93;QA=37;PBP=879;PBM=937;TYPE=SNP;DBXREF=dbSNP:rs1131820,g1000:0.7792,esp5400:0.7089,ExAC:0.7600,clinvar:rs1131820,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:188330,GnomAD_AN_exome:245132,GnomAD_AC_genome:21735,GnomAD_AN_genome:30922,GnomAD:0.7610;SGVEP=KCNN3|-|NM_001204087|3|c.1047T>C|p.(Asn349:)|synonymous GT:DP:AD:DP4 1/1:62:0,62:0,0,30,32 1 154744937 134586098 C T 190 off_target VARTYPE=1;BGN=0.000965875;ARL=276;DER=88;DEA=58;QR=37;QA=38;PBP=46;PBM=151;SP=4;TYPE=SNP;DBXREF=dbSNP:rs11589471,g1000:0.3367,GnomAD_AC_genome:10761,GnomAD_AN_genome:30884,GnomAD:0.3484;SGVEP=KCNN3|-|NM_001204087|3|c.1030-68G>A|.|intronic GT:DP:AD:DP4 0/1:20:12,8:6,6,2,6 1 154832304 134605615 T C 301 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=241;DEA=37;QA=38;PBP=151;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs4845397,g1000:0.7173,GnomAD_AC_genome:20351,GnomAD_AN_genome:30916,GnomAD:0.6583;SGVEP=KCNN3|-|NM_001204087|1|c.933+9204A>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 154842199 134609101 G GGCTGCTGCT 697 PASS VARTYPE=1;BGN=0.000965875;ARL=222;DER=53;DEA=118;QR=34;QA=336;PBP=319;PBM=388;NVF=0.50;TYPE=INDEL;DBXREF=dbSNP:rs3831942,ExAC:0.0330,clinvar:rs3831942,CLNSIG:Uncertain_significance,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=KCNN3|-|NM_001204087|1|c.233_241dup|p.(Gln78_Gln80dup)|inframe_9 GT:DP:AD:DP4 0/1:162:91,35:47,44,16,19 1 154842199 134609108 G GGCTGCTGCTGCT 438 PASS VARTYPE=1;BGN=0.000965875;ARL=222;DER=53;DEA=116;QR=34;QA=445;PBP=180;PBM=268;NVF=0.45;TYPE=INDEL;DBXREF=dbSNP:rs56352724,ExAC:0.0530,clinvar:rs3831942,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=KCNN3|-|NM_001204087|1|c.230_241dup|p.(Gln77_Gln80dup)|inframe_12 GT:DP:AD:DP4 0/1:162:91,24:47,44,10,14 1 154842239 . G GCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCGGTTAATACCTGGGTAATGGGATGATCTGTGCAGTAAACCACCATGGCACACGTTTTCCTATGTAATAAGCNNNNNNNNNNNNNNNNNNNNGTTTGACTGTTTTAAATTCCACACAATATTTGTCTTTCTGTGTCTAACTTATTCCATTTAGCAAA 1000 PASS VARTYPE=4;BGN=0.000931846;ARL=151;DER=75;DEA=26;QR=37;QA=316;PBP=49;PBM=81;SP=2;NVF=0.15;TYPE=INDEL;SGVEP=KCNN3|-|NM_001204087|1|c.201_202ins394|p.(Gln68Phefs*18)|frameshift GT:DP:AD:DP4 0/1:1000:500,500:250,250,250,250 1 154842330 134609294 TTGC T 111 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=232;DER=96;DEA=117;QR=35;QA=111;PBP=69;PBM=48;SP=2;NVF=0.12;TYPE=INDEL;DBXREF=dbSNP:rs780092269,GnomAD_AC_exome:881,GnomAD_AN_exome:117200,GnomAD_AC_genome:9,GnomAD_AN_genome:30040,GnomAD:0.0060;SGVEP=KCNN3|-|NM_001204087|1|c.108_110del|p.(Gln41del)|inframe_3 GT:DP:AD:DP4 0/1:93:84,7:39,45,4,3 1 155205669 134703098 G T 1140 off_target VARTYPE=1;BGN=0.0013919;ARL=242;DER=76;DEA=60;QR=11;QA=36;PBP=514;PBM=628;TYPE=SNP;DBXREF=dbSNP:rs3115534,g1000:0.9409,esp5400:0.9433,ExAC:0.9830,clinvar:rs3115534,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:242329,GnomAD_AN_exome:245560,GnomAD_AC_genome:29356,GnomAD_AN_genome:30848,GnomAD:0.9829;SGVEP=GBA|-|NM_000157|9|c.1225-34C>A|.|intronic GT:DP:AD:DP4 1/1:40:0,40:0,0,18,22 1 155257818 134721457 C T 1028 PASS VARTYPE=1;BGN=0.00115949;ARL=218;DER=91;DEA=81;QR=37;QA=37;PBP=572;PBM=467;TYPE=SNP;DBXREF=dbSNP:rs35001694,g1000:0.0126,esp5400:0.0224,ExAC:0.0240,PhyloP:2.7080,SIFT:0.9980,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0030,LRT:0.9980,MutationTaster:0.9420,GERP:4.9100,GnomAD_AC_exome:6040,GnomAD_AN_exome:245778,GnomAD_AC_genome:595,GnomAD_AN_genome:30840,GnomAD:0.0240;SGVEP=HCN3|+|NM_020897|8|c.1889C>T|p.(Pro630Leu)|missense GT:DP:AD:DP4 0/1:90:46,44:23,23,24,20 1 155263410 134724210 T C 601 off_target VARTYPE=1;BGN=0.00115949;ARL=248;DER=57;DEA=45;QR=35;QA=37;PBP=273;PBM=336;TYPE=SNP;DBXREF=dbSNP:rs8177980,esp5400:0.0012,ExAC:0.0007,GnomAD_AC_exome:149,GnomAD_AN_exome:244938,GnomAD_AC_genome:23,GnomAD_AN_genome:30948,GnomAD:0.0006;SGVEP=PKLR|-|NM_000298|8|c.1117-29A>G|.|intronic GT:DP:AD:DP4 0/1:69:42,27:18,24,12,15 1 155722506 134847133 C G 343 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=262;DEA=24;QA=36;PBP=171;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs12134456,g1000:0.1430,GnomAD_AC_genome:8478,GnomAD_AN_genome:30908,GnomAD:0.2743;SGVEP=GON4L|-|NM_001282856|30|c.5843-125G>C|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 155737385 134852949 C T 371 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=251;DEA=66;QA=36;PBP=171;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs849712,g1000:0.9279,GnomAD_AC_genome:28893,GnomAD_AN_genome:30900,GnomAD:0.9350;SGVEP=GON4L|-|NM_001282856|20|c.2647-53G>A|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 1 155737425 134852970 AACAC A 127 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=272;DER=27;DEA=47;QR=36;QA=139;PBP=50;PBM=80;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs571639047,g1000:0.4313,GnomAD_AC_genome:15096,GnomAD_AN_genome:29416,GnomAD:0.5132;SGVEP=GON4L|-|NM_001282856|20|c.2647-97_2647-94del|.|intronic GT:DP:AD:DP4 0/1:10:3,5:2,1,2,3 1 155753676 134857048 A G 499 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=267;DEA=43;QA=37;PBP=293;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs822019,g1000:0.8199,GnomAD_AC_genome:25909,GnomAD_AN_genome:30962,GnomAD:0.8368;SGVEP=GON4L|-|NM_001282856|14|c.1892+101T>C|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,10,7 1 155755097 134857541 G A 1405 off_target VARTYPE=1;BGN=0.00115949;ARL=234;DEA=67;QA=37;PBP=733;PBM=674;TYPE=SNP;DBXREF=dbSNP:rs822021,g1000:0.9285,esp5400:0.9221,ExAC:0.9790,GnomAD_AC_exome:242275,GnomAD_AN_exome:246222,GnomAD_AC_genome:28929,GnomAD_AN_genome:30942,GnomAD:0.9785;SGVEP=GON4L|-|NM_001282856|13|c.1788+28C>T|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,25,23 1 155755239 134857629 T C 884 off_target VARTYPE=1;BGN=0.0013919;ARL=245;DEA=52;QA=36;PBP=457;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs822022,g1000:0.8624,esp5400:0.8822,GnomAD_AC_genome:26751,GnomAD_AN_genome:30962,GnomAD:0.8640;SGVEP=GON4L|-|NM_001282856|13|c.1748-74A>G|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,16,15 1 155785578 134862684 CAACT C 722 off_target VARTYPE=1;BGN=0.000965875;ARL=214;DEA=58;QA=145;PBP=361;PBM=361;TYPE=INDEL;DBXREF=dbSNP:rs375366111,g1000:0.8626,ExAC:0.9250,GnomAD_AC_exome:228457,GnomAD_AN_exome:244826,GnomAD_AC_genome:26536,GnomAD_AN_genome:30750,GnomAD:0.9253;SGVEP=GON4L|-|NM_001282856|8|c.1161+14_1161+17del|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 1 155822971 134877880 C T 411 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=279;DEA=45;QA=37;PBP=235;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs822490,g1000:0.4479,GnomAD_AC_genome:16413,GnomAD_AN_genome:30860,GnomAD:0.5319;SGVEP=GON4L|-|NM_001282856|2|c.505+96G>A|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,8,6 1 155823002 134877907 T C 457 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=269;DEA=63;QA=36;PBP=257;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs822491,g1000:0.9998,GnomAD_AC_genome:30971,GnomAD_AN_genome:30980,GnomAD:0.9997;SGVEP=GON4L|-|NM_001282856|2|c.505+65A>G|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,9,7 1 156025096 134925343 C T 911 PASS VARTYPE=1;BGN=0.00115949;ARL=214;DER=77;DEA=51;QR=38;QA=37;PBP=488;PBM=434;TYPE=SNP;DBXREF=dbSNP:rs7541,g1000:0.0717,esp5400:0.1279,ExAC:0.1200,GnomAD_AC_exome:30099,GnomAD_AN_exome:246232,GnomAD_AC_genome:3480,GnomAD_AN_genome:30914,GnomAD:0.1212;SGVEP=LAMTOR2|+|NM_001145264|2|c.111C>T|p.(Tyr37:)|synonymous GT:DP:AD:DP4 0/1:116:74,42:36,38,22,20 1 156096814 134939793 ACCCTGTCCT A 122 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=259;DER=24;DEA=43;QR=33;QA=338;PBP=77;PBM=49;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs374025897,g1000:0.0861,GnomAD_AC_genome:2468,GnomAD_AN_genome:30836,GnomAD:0.0800;SGVEP=LMNA|+|NM_001257374|1|c.20+806_20+814del|.|intronic GT:DP:AD:DP4 0/1:12:7,5:3,4,3,2 1 156105028 107316 T C 1026 PASS VARTYPE=1;BGN=0.00115949;ARL=219;DER=92;DEA=99;QR=36;QA=37;PBP=538;PBM=498;TYPE=SNP;DBXREF=dbSNP:rs538089,g1000:0.1931,esp5400:0.2034,ExAC:0.1090,clinvar:rs538089,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:24858,GnomAD_AN_exome:245930,GnomAD_AC_genome:5377,GnomAD_AN_genome:30928,GnomAD:0.1092;SGVEP=LMNA|+|NM_001257374|5|c.525T>C|p.(Ala175:)|synonymous GT:DP:AD:DP4 0/1:113:67,46:36,31,24,22 1 156105609 134942933 G T 175 off_target VARTYPE=1;BGN=0.0013919;ARL=233;DER=41;DEA=39;QR=36;QA=36;PBP=114;PBM=66;SP=0;TYPE=SNP;DBXREF=dbSNP:rs646840,g1000:0.1929,GnomAD_AC_genome:5346,GnomAD_AN_genome:30830,GnomAD:0.1734;SGVEP=LMNA|+|NM_001257374|6|c.601-83G>T|.|intronic GT:DP:AD:DP4 0/1:21:13,8:7,6,5,3 1 156105928 107548 G A 1381 off_target VARTYPE=1;BGN=0.0013919;ARL=230;DER=80;DEA=97;QR=37;QA=36;PBP=682;PBM=710;TYPE=SNP;DBXREF=dbSNP:rs534807,g1000:0.1923,esp5400:0.2030,ExAC:0.1070,clinvar:rs534807,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:24457,GnomAD_AN_exome:245304,GnomAD_AC_genome:5350,GnomAD_AN_genome:30892,GnomAD:0.1079;SGVEP=LMNA|+|NM_001257374|6|c.821+16G>A|.|intronic GT:DP:AD:DP4 0/1:122:61,61:31,30,30,31 1 156106185 107643 T C 1550 PASS VARTYPE=1;BGN=0.00115949;ARL=218;DER=95;DEA=79;QR=35;QA=37;PBP=799;PBM=764;TYPE=SNP;DBXREF=dbSNP:rs505058,g1000:0.2492,esp5400:0.2633,ExAC:0.1240,PhyloP:-1.0950,MutationTaster:1.0000,GERP:-5.0000,clinvar:rs505058,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:27128,GnomAD_AN_exome:235986,GnomAD_AC_genome:6992,GnomAD_AN_genome:30918,GnomAD:0.1278;SGVEP=LMNA|+|NM_001257374|7|c.1002T>C|p.(Asp334:)|synonymous GT:DP:AD:DP4 0/1:140:73,67:35,38,34,33 1 156106863 107774 C T 1282 off_target VARTYPE=1;BGN=0.00115949;ARL=231;DER=111;DEA=91;QR=37;QA=37;PBP=645;PBM=648;TYPE=SNP;DBXREF=dbSNP:rs553016,g1000:0.1823,esp5400:0.1925,ExAC:0.1060,clinvar:rs553016,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:24236,GnomAD_AN_exome:245948,GnomAD_AC_genome:5114,GnomAD_AN_genome:30872,GnomAD:0.1060;SGVEP=LMNA|+|NM_001257374|9|c.1153-41C>T|.|intronic GT:DP:AD:DP4 0/1:123:67,56:34,33,28,28 1 156108976 108092 G C 491 off_target VARTYPE=1;BGN=0.00115949;ARL=220;DER=48;DEA=44;QR=35;QA=37;PBP=223;PBM=274;TYPE=SNP;DBXREF=dbSNP:rs7339,g1000:0.1853,esp5400:0.1528,clinvar:rs7339,CLNSIG:not_provided,CLNREVSTAT:no_assertion_provided,GnomAD_AC_genome:5145,GnomAD_AN_genome:30620,GnomAD:0.1680;SGVEP=LMNA|+|NM_001257374|12|c.1655+83G>C|.|intronic GT:DP:AD:DP4 0/1:35:15,20:7,8,9,11 1 156131095 134950916 C CGGGGCGG 411 off_target VARTYPE=1;BGN=0.000965875;ARL=189;DER=19;DEA=29;QR=32;QA=248;PBP=290;PBM=127;TYPE=INDEL;DBXREF=dbSNP:rs201004039,ExAC:0.0110,GnomAD_AC_exome:55014,GnomAD_AN_exome:55068,GnomAD:0.9990;SGVEP=SEMA4A|+|NM_001193300|9|c.811-36_811-35insGGGGGCG|.|intronic GT:DP:AD:DP4 0/1:27:5,16:3,2,11,5 1 156131095 435550805 C G 118 off_target VARTYPE=1;BGN=0.0013919;ARL=189;DER=19;DEA=5;QR=32;QA=36;PBP=57;PBM=66;SP=2;TYPE=SNP;DBXREF=dbSNP:rs879001294;SGVEP=SEMA4A|+|NM_001193300|9|c.811-42C>G|.|intronic GT:DP:AD:DP4 0/1:26:5,6:3,2,3,3 1 156132909 134951408 GCA G 458 off_target VARTYPE=1;BGN=0.000965875;ARL=242;DER=76;DEA=66;QR=37;QA=69;PBP=197;PBM=269;TYPE=INDEL;DBXREF=dbSNP:rs143862668,g1000:0.1238,ExAC:0.1770,GnomAD_AC_exome:43376,GnomAD_AN_exome:245998,GnomAD_AC_genome:5701,GnomAD_AN_genome:30856,GnomAD:0.1773;SGVEP=SEMA4A|+|NM_001193300|10|c.1134+27_1134+28del|.|intronic GT:DP:AD:DP4 0/1:69:48,21:23,25,9,12 1 156146218 134953653 C T 218 PASS VARTYPE=1;BGN=0.0013919;ARL=223;DER=59;DEA=21;QR=37;QA=36;PBP=123;PBM=101;TYPE=SNP;DBXREF=dbSNP:rs12401573,g1000:0.4309,esp5400:0.5289,ExAC:0.5260,clinvar:rs12401573,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:129916,GnomAD_AN_exome:245772,GnomAD_AC_genome:15817,GnomAD_AN_genome:30792,GnomAD:0.5269;SGVEP=SEMA4A|+|NM_001193300|15|c.1716C>T|p.(Pro572:)|synonymous GT:DP:AD:DP4 0/1:42:31,11:16,15,6,5 1 156146640 108131 G A 951 PASS VARTYPE=1;BGN=0.0013919;ARL=223;DER=104;DEA=96;QR=36;QA=36;PBP=444;PBM=517;TYPE=SNP;DBXREF=dbSNP:rs41265017,g1000:0.0218,esp5400:0.0370,ExAC:0.0350,PhyloP:2.4350,SIFT:0.7020,PolyPhen2:0.0240,PolyPhen2_HumDiv:0.2310,LRT:0.7380,MutationTaster:0.8470,GERP:4.1600,clinvar:rs41265017,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:9240,GnomAD_AN_exome:246210,GnomAD_AC_genome:918,GnomAD_AN_genome:30918,GnomAD:0.0367;SGVEP=SEMA4A|+|NM_001193300|15|c.2138G>A|p.(Arg713Gln)|missense GT:DP:AD:DP4 0/1:119:74,45:37,37,21,24 1 156496188 135064953 A G 371 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=254;DEA=38;QA=36;PBP=200;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs6427315,g1000:0.9383,GnomAD_AC_genome:29229,GnomAD_AN_genome:30956,GnomAD:0.9442;SGVEP=IQGAP3|-|NM_178229|38|c.*90T>C|.|3'UTR GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 1 156498673 135065997 T A 691 off_target VARTYPE=1;BGN=0.0013919;ARL=236;DER=46;DEA=58;QR=36;QA=36;PBP=321;PBM=378;TYPE=SNP;DBXREF=dbSNP:rs1171564,g1000:0.5998,esp5400:0.4631,ExAC:0.4220,GnomAD_AC_exome:100302,GnomAD_AN_exome:242448,GnomAD_AC_genome:13966,GnomAD_AN_genome:30872,GnomAD:0.4181;SGVEP=IQGAP3|-|NM_178229|35|c.4571+35A>T|.|intronic GT:DP:AD:DP4 0/1:58:28,30:15,13,14,16 1 156499969 135066536 T C 1645 PASS VARTYPE=1;BGN=0.00115949;ARL=225;DER=107;DEA=115;QR=36;QA=37;PBP=817;PBM=841;TYPE=SNP;DBXREF=dbSNP:rs1171566,g1000:0.6056,esp5400:0.4678,ExAC:0.4240,GnomAD_AC_exome:99556,GnomAD_AN_exome:238124,GnomAD_AC_genome:14126,GnomAD_AN_genome:30896,GnomAD:0.4226;SGVEP=IQGAP3|-|NM_178229|34|c.4332A>G|p.(Leu1444:)|synonymous GT:DP:AD:DP4 0/1:128:59,69:29,30,34,35 1 156500128 135066726 T C 587 off_target VARTYPE=1;BGN=0.00115949;ARL=217;DER=72;DEA=43;QR=35;QA=37;PBP=275;PBM=319;TYPE=SNP;DBXREF=dbSNP:rs746505,g1000:0.4537,esp5400:0.2997,ExAC:0.2890,GnomAD_AC_exome:66396,GnomAD_AN_exome:223346,GnomAD_AC_genome:9296,GnomAD_AN_genome:30842,GnomAD:0.2978;SGVEP=IQGAP3|-|NM_178229|34|c.4192-19A>G|.|intronic GT:DP:AD:DP4 0/1:63:37,26:17,20,12,14 1 156502991 135067591 A G 996 off_target VARTYPE=1;BGN=0.00115949;ARL=256;DEA=30;QA=37;PBP=411;PBM=586;TYPE=SNP;DBXREF=dbSNP:rs1609666,g1000:0.6244,GnomAD_AC_genome:14759,GnomAD_AN_genome:30788,GnomAD:0.4794;SGVEP=IQGAP3|-|NM_178229|32|c.3977-93T>C|.|intronic GT:DP:AD:DP4 1/1:34:0,34:0,0,14,20 1 156503541 135067729 T C 1929 off_target VARTYPE=1;BGN=0.00115949;ARL=242;DEA=63;QA=37;PBP=967;PBM=967;TYPE=SNP;DBXREF=dbSNP:rs6699212,g1000:0.9876,esp5400:0.9855,ExAC:0.9950,GnomAD_AC_exome:239138,GnomAD_AN_exome:239960,GnomAD_AC_genome:30520,GnomAD_AN_genome:30922,GnomAD:0.9955;SGVEP=IQGAP3|-|NM_178229|31|c.3976+24A>G|.|intronic GT:DP:AD:DP4 1/1:66:0,66:0,0,33,33 1 156505061 135069037 C T 383 off_target VARTYPE=1;BGN=0.0013919;ARL=219;DER=81;DEA=56;QR=36;QA=36;PBP=180;PBM=210;TYPE=SNP;DBXREF=dbSNP:rs942965,g1000:0.3666,esp5400:0.2164,ExAC:0.2700,GnomAD_AC_exome:64353,GnomAD_AN_exome:233190,GnomAD_AC_genome:7027,GnomAD_AN_genome:30792,GnomAD:0.2704;SGVEP=IQGAP3|-|NM_178229|28|c.3423-22G>A|.|intronic GT:DP:AD:DP4 0/1:37:20,17:11,9,8,9 1 156508477 135069823 G A 187 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=282;DER=52;DEA=35;QR=37;QA=35;PBP=121;PBM=70;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1177696,g1000:0.6034,GnomAD_AC_genome:14081,GnomAD_AN_genome:30908,GnomAD:0.4556;SGVEP=IQGAP3|-|NM_178229|26|c.3281+124C>T|.|intronic GT:DP:AD:DP4 0/1:14:6,8:3,3,5,3 1 156509552 135070297 C G 733 off_target VARTYPE=1;BGN=0.00115949;ARL=238;DEA=33;QA=37;PBP=323;PBM=411;TYPE=SNP;DBXREF=dbSNP:rs1171570,g1000:0.9876,GnomAD_AC_genome:30569,GnomAD_AN_genome:30972,GnomAD:0.9870;SGVEP=IQGAP3|-|NM_178229|24|c.2892+78G>C|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,11,14 1 156518379 135072851 G A 2041 PASS VARTYPE=1;BGN=0.00115949;ARL=225;DER=81;DEA=82;QR=37;QA=37;PBP=1046;PBM=1011;TYPE=SNP;DBXREF=dbSNP:rs744224,g1000:0.4071,esp5400:0.2843,ExAC:0.3390,PhyloP:0.1080,SIFT:0.8360,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0030,LRT:0.3390,MutationTaster:0.0000,GERP:1.8900,GnomAD_AC_exome:81176,GnomAD_AN_exome:237638,GnomAD_AC_genome:9210,GnomAD_AN_genome:30810,GnomAD:0.3367;SGVEP=IQGAP3|-|NM_178229|17|c.1987C>T|p.(Arg663Cys)|missense GT:DP:AD:DP4 0/1:170:83,87:40,43,44,43 1 156520173 135073480 T A 937 off_target VARTYPE=1;BGN=0.00115949;ARL=258;DEA=76;QA=37;PBP=469;PBM=469;TYPE=SNP;DBXREF=dbSNP:rs1778819,g1000:0.9880,esp5400:0.9862,ExAC:0.9960,GnomAD_AC_exome:238391,GnomAD_AN_exome:239160,GnomAD_AC_genome:30552,GnomAD_AN_genome:30938,GnomAD:0.9957;SGVEP=IQGAP3|-|NM_178229|16|c.1735-30A>T|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,16,16 1 156524221 135074319 G T 1025 off_target VARTYPE=1;BGN=0.00115949;ARL=243;DEA=60;QA=37;PBP=499;PBM=528;TYPE=SNP;DBXREF=dbSNP:rs6694580,g1000:0.3962,esp5400:0.2876,ExAC:0.3570,GnomAD_AC_exome:72282,GnomAD_AN_exome:200692,GnomAD_AC_genome:9397,GnomAD_AN_genome:30882,GnomAD:0.3527;SGVEP=IQGAP3|-|NM_178229|13|c.1291-37C>A|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,17,18 1 156526234 135074515 C T 352 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=244;DEA=27;QA=37;PBP=176;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs2489139,g1000:0.9601,GnomAD_AC_genome:29727,GnomAD_AN_genome:30960,GnomAD:0.9602;SGVEP=IQGAP3|-|NM_178229|12|c.1290+91G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 156526430 135074583 G A 1493 PASS VARTYPE=1;BGN=0.000965875;ARL=212;DER=100;DEA=67;QR=37;QA=38;PBP=777;PBM=729;TYPE=SNP;DBXREF=dbSNP:rs35160849,g1000:0.0162,esp5400:0.0270,ExAC:0.0290,GnomAD_AC_exome:7161,GnomAD_AN_exome:240794,GnomAD_AC_genome:826,GnomAD_AN_genome:30968,GnomAD:0.0294;SGVEP=IQGAP3|-|NM_178229|12|c.1185C>T|p.(Asp395:)|synonymous GT:DP:AD:DP4 0/1:126:64,62:33,31,32,30 1 156526444 135074590 T C 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=213;DEA=75;QA=37;PBP=1755;PBM=1667;TYPE=SNP;DBXREF=dbSNP:rs2488269,g1000:0.9601,esp5400:0.9567,ExAC:0.9880,PhyloP:1.3440,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0550,GERP:5.5400,GnomAD_AC_exome:240074,GnomAD_AN_exome:242408,GnomAD_AC_genome:29737,GnomAD_AN_genome:30968,GnomAD:0.9870;SGVEP=IQGAP3|-|NM_178229|12|c.1171A>G|p.(Arg391Gly)|missense GT:DP:AD:DP4 1/1:117:0,117:0,0,60,57 1 156526564 135074632 C A 616 off_target VARTYPE=1;BGN=0.00115949;ARL=257;DEA=62;QA=37;PBP=293;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs2489138,g1000:0.3890,GnomAD_AC_genome:9230,GnomAD_AN_genome:30920,GnomAD:0.2985;SGVEP=IQGAP3|-|NM_178229|12|c.1130-79G>T|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,10,11 1 156531871 135075141 A G 685 off_target VARTYPE=1;BGN=0.0013919;ARL=260;DEA=38;QA=36;PBP=257;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs1171545,g1000:0.9599,GnomAD_AC_genome:29674,GnomAD_AN_genome:30900,GnomAD:0.9603;SGVEP=IQGAP3|-|NM_178229|10|c.878-78T>C|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,9,15 1 156532977 135075322 T C 1988 PASS VARTYPE=1;BGN=0.00115949;ARL=226;DEA=84;QA=37;PBP=1054;PBM=937;TYPE=SNP;DBXREF=dbSNP:rs1171547,g1000:0.9599,esp5400:0.9564,ExAC:0.9880,GnomAD_AC_exome:243566,GnomAD_AN_exome:245922,GnomAD_AC_genome:29738,GnomAD_AN_genome:30974,GnomAD:0.9870;SGVEP=IQGAP3|-|NM_178229|8|c.747A>G|p.(Gln249:)|synonymous GT:DP:AD:DP4 1/1:68:0,68:0,0,36,32 1 156536123 135075925 T C 542 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=275;DEA=82;QA=36;PBP=285;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs2066378,g1000:0.9599,GnomAD_AC_genome:29678,GnomAD_AN_genome:30914,GnomAD:0.9600;SGVEP=IQGAP3|-|NM_178229|3|c.282+59A>G|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,10,9 1 156536133 135075926 A G 703 off_target VARTYPE=1;BGN=0.00115949;ARL=260;DEA=73;QA=37;PBP=381;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs4382715,g1000:0.9599,esp5400:0.9564,ExAC:0.9880,GnomAD_AC_exome:235885,GnomAD_AN_exome:238232,GnomAD_AC_genome:29682,GnomAD_AN_genome:30922,GnomAD:0.9867;SGVEP=IQGAP3|-|NM_178229|3|c.282+49T>C|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,13,11 1 156536221 135075958 G C 2656 PASS VARTYPE=1;BGN=0.00115949;ARL=221;DEA=85;QA=37;PBP=1346;PBM=1317;TYPE=SNP;DBXREF=dbSNP:rs2066377,g1000:0.9599,esp5400:0.9564,ExAC:0.9880,GnomAD_AC_exome:243612,GnomAD_AN_exome:245972,GnomAD_AC_genome:29702,GnomAD_AN_genome:30938,GnomAD:0.9870;SGVEP=IQGAP3|-|NM_178229|3|c.243C>G|p.(Pro81:)|synonymous GT:DP:AD:DP4 1/1:91:0,91:0,0,46,45 1 156536251 135075971 T C 3149 PASS VARTYPE=1;BGN=0.00115949;ARL=217;DEA=100;QA=37;PBP=1580;PBM=1580;TYPE=SNP;DBXREF=dbSNP:rs947662,g1000:0.9599,esp5400:0.9564,ExAC:0.9880,GnomAD_AC_exome:243657,GnomAD_AN_exome:246014,GnomAD_AC_genome:29717,GnomAD_AN_genome:30952,GnomAD:0.9870;SGVEP=IQGAP3|-|NM_178229|3|c.213A>G|p.(Leu71:)|synonymous GT:DP:AD:DP4 1/1:108:0,108:0,0,54,54 1 156536353 135076006 A G 1755 off_target VARTYPE=1;BGN=0.00115949;ARL=220;DEA=42;QA=37;PBP=879;PBM=879;TYPE=SNP;DBXREF=dbSNP:rs947663,g1000:0.9599,esp5400:0.9565,ExAC:0.9880,GnomAD_AC_exome:241634,GnomAD_AN_exome:243964,GnomAD_AC_genome:29724,GnomAD_AN_genome:30960,GnomAD:0.9870;SGVEP=IQGAP3|-|NM_178229|3|c.126-15T>C|.|intronic GT:DP:AD:DP4 1/1:60:0,60:0,0,30,30 1 156539154 135076330 T C 602 off_target VARTYPE=1;BGN=0.00115949;ARL=197;DER=48;DEA=44;QR=24;QA=37;PBP=370;PBM=235;TYPE=SNP;DBXREF=dbSNP:rs6427319,g1000:0.9908,esp5400:0.9884,ExAC:0.9950,GnomAD_AC_exome:239921,GnomAD_AN_exome:240886,GnomAD_AC_genome:30546,GnomAD_AN_genome:30896,GnomAD:0.9952;SGVEP=IQGAP3|-|NM_178229|2|c.125+14A>G|.|intronic GT:DP:AD:DP4 1/1:22:1,21:1,0,13,8 1 156752048 135127968 C G 164 off_target VARTYPE=1;BGN=0.00167091;ARL=204;DER=70;DEA=56;QR=38;QA=35;PBP=84;PBM=84;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2274503,g1000:0.6458,esp5400:0.6255,ExAC:0.6710,GnomAD_AC_exome:165259,GnomAD_AN_exome:243822,GnomAD_AC_genome:19572,GnomAD_AN_genome:30894,GnomAD:0.6728;SGVEP=PRCC|+|NM_005973|2|c.469-26C>G|.|intronic GT:DP:AD:DP4 0/1:24:16,8:8,8,4,4 1 156761618 135129650 C T 527 off_target VARTYPE=1;BGN=0.00240792;ARL=206;DER=25;DEA=41;QR=34;QA=33;PBP=252;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs2644615,g1000:0.1556,esp5400:0.2045,ExAC:0.2160,GnomAD_AC_exome:50723,GnomAD_AN_exome:235626,GnomAD_AC_genome:6489,GnomAD_AN_genome:30840,GnomAD:0.2147;SGVEP=PRCC|+|NM_005973|4|c.1179+34C>T|.|intronic GT:DP:AD:DP4 0/1:32:9,23:5,4,11,12 1 156785617 135133913 G A 1755 PASS VARTYPE=1;BGN=0.00115949;ARL=212;DEA=103;QA=37;PBP=879;PBM=879;TYPE=SNP;DBXREF=dbSNP:rs1800601,g1000:0.6370,esp5400:0.6189,ExAC:0.6680,clinvar:rs1800601,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:165766,GnomAD_AN_exome:246060,GnomAD_AC_genome:19241,GnomAD_AN_genome:30822,GnomAD:0.6682;SGVEP=NTRK1|+|NM_001007792|1|c.-5G>A|.|5'UTR GT:DP:AD:DP4 1/1:60:0,60:0,0,30,30 1 156785762 135134006 AG A 254 low_coverage;off_target VARTYPE=1;BGN=0.00289059;ARL=261;DEA=56;QA=32;PBP=102;PBM=152;TYPE=INDEL;DBXREF=dbSNP:rs11325907,g1000:0.5809,ExAC:0.6170,GnomAD_AC_exome:151440,GnomAD_AN_exome:239870,GnomAD_AC_genome:16942,GnomAD_AN_genome:30620,GnomAD:0.6225;SGVEP=NTRK1|+|NM_001007792|1|c.9+133del|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,4,6 1 156838141 135149056 T C 673 off_target VARTYPE=1;BGN=0.00115949;ARL=267;DER=122;DEA=114;QR=35;QA=37;PBP=352;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs1800879,g1000:0.7117,GnomAD_AC_genome:18897,GnomAD_AN_genome:30812,GnomAD:0.6133;SGVEP=NTRK1|+|NM_001007792|6|c.484+100T>C|.|intronic GT:DP:AD:DP4 0/1:44:17,27:9,8,14,13 1 156841674 135150047 G A 135 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=273;DER=37;DEA=24;QR=37;QA=37;PBP=22;PBM=120;SP=5;TYPE=SNP;DBXREF=dbSNP:rs1410082,g1000:0.1150,GnomAD_AC_genome:3018,GnomAD_AN_genome:30928,GnomAD:0.0976;SGVEP=NTRK1|+|NM_001007792|8|c.760+127G>A|.|intronic GT:DP:AD:DP4 0/1:17:11,6:5,6,1,5 1 156845492 135151592 A AGTGTGTGT 155 off_target VARTYPE=1;BGN=0.000965875;ARL=238;DER=62;DEA=119;QR=33;QA=291;PBP=37;PBM=127;SP=6;TYPE=INDEL;DBXREF=ExAC:0.0130,GnomAD_AC_genome:874,GnomAD_AN_genome:26530,GnomAD:0.0329;SGVEP=NTRK1|+|NM_001007792|12|c.1393+63_1393+70dup|.|intronic GT:DP:AD:DP4 0/1:48:31,8:17,14,2,6 1 156846233 135152076 G A 2796 PASS VARTYPE=1;BGN=0.00115949;ARL=217;DER=74;DEA=80;QR=37;QA=37;PBP=1492;PBM=1327;TYPE=SNP;DBXREF=dbSNP:rs6334,g1000:0.2129,esp5400:0.1902,ExAC:0.2190,clinvar:rs6334,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:54107,GnomAD_AN_exome:245664,GnomAD_AC_genome:6164,GnomAD_AN_genome:30890,GnomAD:0.2179;SGVEP=NTRK1|+|NM_001007792|14|c.1566G>A|p.(Gln522:)|synonymous GT:DP:AD:DP4 0/1:247:126,121:66,60,64,57 1 156848808 135152821 T C 144 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=267;DER=82;DEA=26;QR=34;QA=37;PBP=99;PBM=49;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2768757,g1000:0.6286,GnomAD_AC_genome:24638,GnomAD_AN_genome:30830,GnomAD:0.7992;SGVEP=NTRK1|+|NM_001007792|15|c.1698-106T>C|.|intronic GT:DP:AD:DP4 0/1:13:7,6:4,3,4,2 1 156848909 135152922 CA C 1058 PASS VARTYPE=1;BGN=0.00115949;ARL=237;DER=62;DEA=73;QR=35;QA=37;PBP=534;PBM=537;TYPE=INDEL;DBXREF=dbSNP:rs1799770,g1000:0.0893,ExAC:0.0620,clinvar:rs1799770,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:14382,GnomAD_AN_exome:243678,GnomAD_AC_genome:1836,GnomAD_AN_genome:30896,GnomAD:0.0591;SGVEP=NTRK1|+|NM_001007792|15|c.1698-4del|.|intronic GT:DP:AD:DP4 0/1:100:53,46:27,26,23,23 1 156849775 108209 T C 1789 off_target VARTYPE=1;BGN=0.000965875;ARL=227;DER=69;DEA=73;QR=36;QA=38;PBP=982;PBM=823;TYPE=SNP;DBXREF=dbSNP:rs12076232,g1000:0.1224,esp5400:0.1113,ExAC:0.0640,clinvar:rs12076232,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:14093,GnomAD_AN_exome:243852,GnomAD_AC_genome:2950,GnomAD_AN_genome:30836,GnomAD:0.0620;SGVEP=NTRK1|+|NM_001007792|16|c.1939-16T>C|.|intronic GT:DP:AD:DP4 0/1:168:92,76:46,46,41,35 1 156850104 135153628 G C 305 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=266;DEA=34;QA=35;PBP=56;PBM=250;TYPE=SNP;DBXREF=dbSNP:rs2274499,g1000:0.6663,GnomAD_AC_genome:25405,GnomAD_AN_genome:30750,GnomAD:0.8262;SGVEP=NTRK1|+|NM_001007792|16|c.2097+155G>C|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,2,9 1 158549264 135608019 G A 1151 PASS VARTYPE=1;BGN=0.00115949;ARL=231;DER=88;DEA=102;QR=36;QA=37;PBP=578;PBM=583;TYPE=SNP;DBXREF=dbSNP:rs863360,g1000:0.5024,esp5400:0.4883,ExAC:0.4770,GnomAD_AC_exome:116472,GnomAD_AN_exome:245706,GnomAD_AC_genome:15683,GnomAD_AN_genome:30844,GnomAD:0.4779;SGVEP=OR10X1|-|NM_001004477|1|c.426C>T|p.(Ile142:)|synonymous GT:DP:AD:DP4 0/1:108:58,50:30,28,25,25 1 158549420 135608188 C T 449 PASS VARTYPE=1;BGN=0.0013919;ARL=239;DER=93;DEA=81;QR=37;QA=36;PBP=228;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs863361,g1000:0.5184,esp5400:0.5057,ExAC:0.4810,GnomAD_AC_exome:117323,GnomAD_AN_exome:245710,GnomAD_AC_genome:16162,GnomAD_AN_genome:30874,GnomAD:0.4826;SGVEP=OR10X1|-|NM_001004477|1|c.270G>A|p.(Thr90:)|synonymous GT:DP:AD:DP4 0/1:70:48,22:24,24,11,11 1 158549492 135608283 C T 469 PASS VARTYPE=1;BGN=0.0013919;ARL=237;DER=108;DEA=103;QR=36;QA=36;PBP=239;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs863362,g1000:0.5024,esp5400:0.4882,ExAC:0.4770,PhyloP:2.6480,LRT:0.9960,MutationTaster:1.0000,GERP:4.1800,GnomAD_AC_exome:116361,GnomAD_AN_exome:245476,GnomAD_AC_genome:15667,GnomAD_AN_genome:30842,GnomAD:0.4778;SGVEP=OR10X1|-|NM_001004477|1|c.198G>A|p.(Trp66*)|nonsense GT:DP:AD:DP4 0/1:90:65,24:31,34,12,12 1 158549511 135608311 A G 548 PASS VARTYPE=1;BGN=0.0013919;ARL=242;DER=112;DEA=91;QR=37;QA=36;PBP=267;PBM=289;TYPE=SNP;DBXREF=dbSNP:rs863363,g1000:0.5182,esp5400:0.5058,ExAC:0.4820,PhyloP:0.2960,SIFT:0.3060,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.4890,MutationTaster:0.0000,GERP:3.2000,GnomAD_AC_exome:117297,GnomAD_AN_exome:245620,GnomAD_AC_genome:16140,GnomAD_AN_genome:30862,GnomAD:0.4826;SGVEP=OR10X1|-|NM_001004477|1|c.179T>C|p.(Ile60Thr)|missense GT:DP:AD:DP4 0/1:86:59,27:29,30,13,14 1 158582543 135616499 G A 123 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=250;DER=52;DEA=39;QR=33;QA=37;PBP=51;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2251963,g1000:0.2770,GnomAD_AC_genome:8249,GnomAD_AN_genome:30444,GnomAD:0.2710;SGVEP=SPTA1|-|NM_003126|51|c.7134+64C>T|.|intronic GT:DP:AD:DP4 0/1:10:5,5:2,3,2,3 1 158582552 135616507 G A 231 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=225;DER=47;DEA=29;QR=34;QA=38;PBP=105;PBM=130;TYPE=SNP;DBXREF=dbSNP:rs2251964,g1000:0.2770,GnomAD_AC_genome:8247,GnomAD_AN_genome:30500,GnomAD:0.2704;SGVEP=SPTA1|-|NM_003126|51|c.7134+55C>T|.|intronic GT:DP:AD:DP4 0/1:16:7,9:3,4,4,5 1 158582646 135616604 T C 1346 PASS VARTYPE=1;BGN=0.00115949;ARL=213;DEA=81;QA=37;PBP=674;PBM=674;TYPE=SNP;DBXREF=dbSNP:rs2251969,g1000:0.5048,esp5400:0.5150,ExAC:0.5380,clinvar:rs2251969,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:132865,GnomAD_AN_exome:245238,GnomAD_AC_genome:16439,GnomAD_AN_genome:30836,GnomAD:0.5408;SGVEP=SPTA1|-|NM_003126|51|c.7095A>G|p.(Ala2365:)|synonymous GT:DP:AD:DP4 1/1:46:0,46:0,0,23,23 1 158585230 135617658 C T 448 off_target VARTYPE=1;BGN=0.00115949;ARL=250;DER=66;DEA=54;QR=30;QA=37;PBP=200;PBM=254;TYPE=SNP;DBXREF=dbSNP:rs2518491,g1000:0.2316,esp5400:0.2129,ExAC:0.2700,GnomAD_AC_exome:67942,GnomAD_AN_exome:244836,GnomAD_AC_genome:7290,GnomAD_AN_genome:30942,GnomAD:0.2728;SGVEP=SPTA1|-|NM_003126|48|c.6601-37G>A|.|intronic GT:DP:AD:DP4 0/1:30:12,18:6,6,8,10 1 158587390 135618092 C T 572 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=199;DEA=47;QA=38;PBP=271;PBM=301;TYPE=SNP;DBXREF=dbSNP:rs857716,g1000:0.4910,esp5400:0.4901,ExAC:0.5330,clinvar:rs857716,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:131685,GnomAD_AN_exome:244848,GnomAD_AC_genome:16129,GnomAD_AN_genome:30874,GnomAD:0.5361;SGVEP=SPTA1|-|NM_003126|47|c.6549-12G>A|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,9,10 1 158587858 135618212 G A 142 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=226;DER=103;DEA=60;QR=38;QA=38;PBP=73;PBM=73;SP=0;TYPE=SNP;DBXREF=dbSNP:rs28525570,g1000:0.2278,esp5400:0.2499,ExAC:0.2560,clinvar:rs28525570,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:62653,GnomAD_AN_exome:245846,GnomAD_AC_genome:8057,GnomAD_AN_genome:30908,GnomAD:0.2555;SGVEP=SPTA1|-|NM_003126|46|c.6531-12C>T|.|intronic GT:DP:AD:DP4 0/1:16:10,6:5,5,3,3 1 158588916 135618461 C G 421 off_target VARTYPE=1;BGN=0.000965875;ARL=255;DER=37;DEA=47;QR=37;QA=38;PBP=227;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs7553252,g1000:0.3213,GnomAD_AC_genome:10592,GnomAD_AN_genome:30854,GnomAD:0.3433;SGVEP=SPTA1|-|NM_003126|45|c.6530+96G>C|.|intronic GT:DP:AD:DP4 0/1:33:16,17:8,8,9,8 1 158592935 135619926 G A 509 PASS VARTYPE=1;BGN=0.00115949;ARL=219;DER=85;DEA=72;QR=37;QA=37;PBP=245;PBM=271;TYPE=SNP;DBXREF=dbSNP:rs3753068,g1000:0.3105,esp5400:0.3277,ExAC:0.2950,clinvar:rs3753068,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:71473,GnomAD_AN_exome:245980,GnomAD_AC_genome:10313,GnomAD_AN_genome:30882,GnomAD:0.2954;SGVEP=SPTA1|-|NM_003126|43|c.5958C>T|p.(Pro1986:)|synonymous GT:DP:AD:DP4 0/1:61:38,23:19,19,11,12 1 158595842 135620634 C A 151 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=247;DER=31;DEA=63;QR=36;QA=38;PBP=77;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs11265038,g1000:0.2460,GnomAD_AC_genome:8472,GnomAD_AN_genome:30794,GnomAD:0.2751;SGVEP=SPTA1|-|NM_003126|42|c.5910+94G>T|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 1 158596524 135620890 A G 208 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=245;DER=50;DEA=12;QR=37;QA=37;PBP=134;PBM=78;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12088990,g1000:0.2256,GnomAD_AC_genome:7963,GnomAD_AN_genome:30866,GnomAD:0.2580;SGVEP=SPTA1|-|NM_003126|41|c.5833+105T>C|.|intronic GT:DP:AD:DP4 0/1:12:4,8:2,2,5,3 1 158597507 135621320 G C 328 PASS VARTYPE=1;BGN=0.0013919;ARL=211;DER=79;DEA=79;QR=37;QA=36;PBP=167;PBM=168;TYPE=SNP;DBXREF=dbSNP:rs3737515,g1000:0.2278,esp5400:0.2501,ExAC:0.2560,PhyloP:0.4510,SIFT:0.9950,PolyPhen2:0.3950,PolyPhen2_HumDiv:0.6010,LRT:0.8520,MutationTaster:0.9680,GERP:2.6800,clinvar:rs3737515,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:62420,GnomAD_AN_exome:244830,GnomAD_AC_genome:8053,GnomAD_AN_genome:30926,GnomAD:0.2556;SGVEP=SPTA1|-|NM_003126|40|c.5572C>G|p.(Leu1858Val)|missense GT:DP:AD:DP4 0/1:51:35,16:18,17,8,8 1 158606449 135624200 G T 681 PASS VARTYPE=1;BGN=0.000965875;ARL=207;DER=70;DEA=66;QR=34;QA=38;PBP=320;PBM=370;TYPE=SNP;DBXREF=dbSNP:rs3738791,g1000:0.3205,esp5400:0.3386,ExAC:0.2980,clinvar:rs3738791,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:71963,GnomAD_AN_exome:245860,GnomAD_AC_genome:10601,GnomAD_AN_genome:30868,GnomAD:0.2984;SGVEP=SPTA1|-|NM_003126|37|c.5292C>A|p.(Ala1764:)|synonymous GT:DP:AD:DP4 0/1:81:51,30:25,26,14,16 1 158607788 135624450 T G 457 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=216;DEA=37;QA=36;PBP=228;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs2518492,g1000:0.9998,esp5400:0.9990,ExAC:1.0000,GnomAD_AC_exome:244230,GnomAD_AN_exome:244280,GnomAD_AC_genome:30963,GnomAD_AN_genome:30978,GnomAD:0.9998;SGVEP=SPTA1|-|NM_003126|36|c.5189+35A>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 1 158607935 135624565 T G 722 PASS VARTYPE=1;BGN=0.000965875;ARL=213;DER=88;DEA=98;QR=36;QA=38;PBP=350;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs857725,g1000:0.2456,esp5400:0.2205,ExAC:0.2730,PhyloP:-0.8440,SIFT:0.7680,PolyPhen2:0.0040,PolyPhen2_HumDiv:0.0000,LRT:0.6050,MutationTaster:0.0000,GERP:-5.3700,clinvar:rs857725,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:68732,GnomAD_AN_exome:245636,GnomAD_AC_genome:7558,GnomAD_AN_genome:30920,GnomAD:0.2759;SGVEP=SPTA1|-|NM_003126|36|c.5077A>C|p.(Lys1693Gln)|missense GT:DP:AD:DP4 0/1:75:44,31:23,21,15,16 1 158609300 135624976 C G 312 off_target VARTYPE=1;BGN=0.00167091;ARL=264;DER=34;DEA=76;QR=36;QA=35;PBP=195;PBM=121;TYPE=SNP;DBXREF=dbSNP:rs17635857,g1000:0.2454,GnomAD_AC_genome:8503,GnomAD_AN_genome:30874,GnomAD:0.2754;SGVEP=SPTA1|-|NM_003126|35|c.4980+72G>C|.|intronic GT:DP:AD:DP4 0/1:20:7,13:4,3,8,5 1 158609549 135625190 G A 490 off_target VARTYPE=1;BGN=0.00115949;ARL=263;DER=114;DEA=98;QR=37;QA=37;PBP=238;PBM=259;TYPE=SNP;DBXREF=dbSNP:rs113868779,g1000:0.0010,GnomAD_AC_genome:30,GnomAD_AN_genome:30942,GnomAD:0.0010;SGVEP=SPTA1|-|NM_003126|35|c.4876-73C>T|.|intronic GT:DP:AD:DP4 0/1:45:24,21:11,13,10,11 1 158612236 135626034 A G 2219 PASS VARTYPE=1;BGN=0.0013919;ARL=211;DEA=62;QA=36;PBP=1083;PBM=1140;TYPE=SNP;DBXREF=dbSNP:rs863931,g1000:0.5940,esp5400:0.6055,ExAC:0.5790,PhyloP:0.0840,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9960,MutationTaster:0.0030,GERP:1.0100,clinvar:rs863931,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:142063,GnomAD_AN_exome:245618,GnomAD_AC_genome:18881,GnomAD_AN_genome:30840,GnomAD:0.5822;SGVEP=SPTA1|-|NM_003126|33|c.4702T>C|p.(Cys1568Arg)|missense GT:DP:AD:DP4 1/1:78:0,78:0,0,38,40 1 158612548 135626196 T A 288 off_target VARTYPE=1;BGN=0.00115949;ARL=254;DER=66;DEA=56;QR=37;QA=37;PBP=176;PBM=118;TYPE=SNP;DBXREF=dbSNP:rs857721,g1000:0.2372,GnomAD_AC_genome:7333,GnomAD_AN_genome:30884,GnomAD:0.2374;SGVEP=SPTA1|-|NM_003126|32|c.4605+56A>T|.|intronic GT:DP:AD:DP4 0/1:24:12,12:5,7,7,5 1 158614198 135626691 C T 372 off_target VARTYPE=1;BGN=0.000965875;ARL=228;DER=86;DEA=79;QR=37;QA=38;PBP=201;PBM=178;TYPE=SNP;DBXREF=dbSNP:rs6702040,g1000:0.3197,esp5400:0.3378,ExAC:0.2970,clinvar:rs6702040,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:71812,GnomAD_AN_exome:245668,GnomAD_AC_genome:10585,GnomAD_AN_genome:30836,GnomAD:0.2980;SGVEP=SPTA1|-|NM_003126|30|c.4195-12G>A|.|intronic GT:DP:AD:DP4 0/1:56:39,17:20,19,9,8 1 158618223 135627433 C T 297 low_coverage;off_target VARTYPE=1;BGN=0.00200585;ARL=261;DEA=63;QA=34;PBP=189;PBM=108;TYPE=SNP;DBXREF=dbSNP:rs857677,g1000:0.5441,GnomAD_AC_genome:17494,GnomAD_AN_genome:30802,GnomAD:0.5680;SGVEP=SPTA1|-|NM_003126|26|c.3714+76G>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,7,4 1 158618480 135627544 A T 392 off_target VARTYPE=1;BGN=0.00115949;ARL=240;DER=56;DEA=45;QR=38;QA=37;PBP=188;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs11265044,g1000:0.2466,esp5400:0.2624,ExAC:0.2460,GnomAD_AC_exome:59638,GnomAD_AN_exome:243918,GnomAD_AC_genome:8218,GnomAD_AN_genome:30786,GnomAD:0.2470;SGVEP=SPTA1|-|NM_003126|26|c.3570-37T>A|.|intronic GT:DP:AD:DP4 0/1:39:22,17:10,12,8,9 1 158619728 135627717 A C 1082 PASS VARTYPE=1;BGN=0.000965875;ARL=187;DEA=52;QA=38;PBP=542;PBM=542;TYPE=SNP;DBXREF=dbSNP:rs2482965,g1000:0.9946,esp5400:0.9944,ExAC:0.9980,PhyloP:-0.4610,SIFT:0.5120,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.5660,MutationTaster:0.0000,GERP:-1.9100,clinvar:rs2482965,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:244065,GnomAD_AN_exome:244444,GnomAD_AC_genome:30791,GnomAD_AN_genome:30990,GnomAD:0.9979;SGVEP=SPTA1|-|NM_003126|25|c.3487T>G|p.(Ser1163Ala)|missense GT:DP:AD:DP4 1/1:36:0,36:0,0,18,18 1 158631257 135630866 C T 184 off_target VARTYPE=1;BGN=0.00115949;ARL=280;DER=39;DEA=47;QR=35;QA=37;PBP=71;PBM=118;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12039268,g1000:0.0745,GnomAD_AC_genome:1327,GnomAD_AN_genome:30938,GnomAD:0.0429;SGVEP=SPTA1|-|NM_003126|18|c.2465-58G>A|.|intronic GT:DP:AD:DP4 0/1:20:12,8:5,7,3,5 1 158647495 135636497 A T 692 PASS VARTYPE=1;BGN=0.000965875;ARL=201;DEA=62;QA=38;PBP=361;PBM=331;TYPE=SNP;DBXREF=dbSNP:rs325996,g1000:0.9569,esp5400:0.9577,ExAC:0.9850,clinvar:rs325996,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:242048,GnomAD_AN_exome:245280,GnomAD_AC_genome:29603,GnomAD_AN_genome:30952,GnomAD:0.9834;SGVEP=SPTA1|-|NM_003126|7|c.942T>A|p.(Ala314:)|synonymous GT:DP:AD:DP4 1/1:23:0,23:0,0,12,11 1 158647522 135636515 A G 908 PASS VARTYPE=1;BGN=0.00115949;ARL=197;DEA=74;QA=37;PBP=469;PBM=440;TYPE=SNP;DBXREF=dbSNP:rs703121,g1000:0.4539,esp5400:0.4829,ExAC:0.5440,clinvar:rs703121,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:134894,GnomAD_AN_exome:245246,GnomAD_AC_genome:15804,GnomAD_AN_genome:30856,GnomAD:0.5458;SGVEP=SPTA1|-|NM_003126|7|c.915T>C|p.(Ser305:)|synonymous GT:DP:AD:DP4 1/1:31:0,31:0,0,16,15 1 158647631 135636629 T A 586 off_target VARTYPE=1;BGN=0.00115949;ARL=214;DEA=68;QA=37;PBP=293;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs325995,g1000:0.9569,esp5400:0.9579,ExAC:0.9850,clinvar:rs325995,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:242219,GnomAD_AN_exome:245458,GnomAD_AC_genome:29588,GnomAD_AN_genome:30934,GnomAD:0.9834;SGVEP=SPTA1|-|NM_003126|7|c.813-7A>T|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 1 158647669 135636662 T C 323 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=226;DEA=35;QA=37;PBP=176;PBM=147;TYPE=SNP;DBXREF=dbSNP:rs703122,g1000:0.4539,esp5400:0.4817,ExAC:0.5440,GnomAD_AC_exome:134439,GnomAD_AN_exome:244350,GnomAD_AC_genome:15826,GnomAD_AN_genome:30888,GnomAD:0.5459;SGVEP=SPTA1|-|NM_003126|7|c.813-45A>G|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 1 158654786 135643404 C T 850 off_target VARTYPE=1;BGN=0.00115949;ARL=258;DEA=35;QA=37;PBP=440;PBM=411;TYPE=SNP;DBXREF=dbSNP:rs385096,g1000:0.9698,GnomAD_AC_genome:30153,GnomAD_AN_genome:30958,GnomAD:0.9740;SGVEP=SPTA1|-|NM_003126|2|c.264+112G>A|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,15,14 1 158654852 135643411 A G 2859 off_target VARTYPE=1;BGN=0.00115949;ARL=211;DEA=52;QA=37;PBP=1434;PBM=1434;TYPE=SNP;DBXREF=dbSNP:rs857937,g1000:0.4591,esp5400:0.4940,ExAC:0.5460,GnomAD_AC_exome:133677,GnomAD_AN_exome:242672,GnomAD_AC_genome:16009,GnomAD_AN_genome:30878,GnomAD:0.5472;SGVEP=SPTA1|-|NM_003126|2|c.264+46T>C|.|intronic GT:DP:AD:DP4 1/1:98:0,98:0,0,49,49 1 158655036 135643563 G A 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=213;DEA=90;QA=37;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs435080,g1000:0.9698,esp5400:0.9727,ExAC:0.9920,clinvar:rs435080,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:241878,GnomAD_AN_exome:243572,GnomAD_AC_genome:30144,GnomAD_AN_genome:30948,GnomAD:0.9909;SGVEP=SPTA1|-|NM_003126|2|c.126C>T|p.(Val42:)|synonymous GT:DP:AD:DP4 1/1:289:0,289:0,0,146,143 1 158655162 135643711 C A 10000 off_target VARTYPE=1;BGN=0.00115949;ARL=228;DER=80;DEA=56;QR=38;QA=37;PBP=1882;PBM=2133;TYPE=SNP;DBXREF=dbSNP:rs2564859,g1000:0.9698,esp5400:0.9732,ExAC:0.9920,GnomAD_AC_exome:239472,GnomAD_AN_exome:241164,GnomAD_AC_genome:30145,GnomAD_AN_genome:30948,GnomAD:0.9908;SGVEP=SPTA1|-|NM_003126|2|c.25-25G>T|.|intronic GT:DP:AD:DP4 1/1:139:1,138:1,0,65,73 1 158656281 135644086 T C 285 low_coverage VARTYPE=1;BGN=0.0013919;ARL=187;DEA=92;QA=36;PBP=143;PBM=143;TYPE=SNP;DBXREF=dbSNP:rs2564858,g1000:0.9698,esp5400:0.9727,ExAC:0.9920,clinvar:rs2564858,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:244215,GnomAD_AN_exome:245912,GnomAD_AC_genome:30102,GnomAD_AN_genome:30912,GnomAD:0.9909;SGVEP=SPTA1|-|NM_003126|1|c.24+3A>G|.|splice_donor_+3 GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 159174824 135772792 G C 2511 off_target VARTYPE=1;BGN=0.00115949;ARL=221;DEA=63;QA=37;PBP=1230;PBM=1288;TYPE=SNP;DBXREF=dbSNP:rs863001,g1000:1.0000,GnomAD_AC_genome:30948,GnomAD_AN_genome:30948,GnomAD:1.0000;SGVEP=ACKR1|+|NM_002036|1|c.21+54G>C|.|intronic GT:DP:AD:DP4 1/1:86:0,86:0,0,42,44 1 159174885 135772800 T C 543 off_target VARTYPE=1;BGN=0.00167091;ARL=254;DER=73;DEA=49;QR=38;QA=35;PBP=248;PBM=300;TYPE=SNP;DBXREF=dbSNP:rs7550207,g1000:0.1178,GnomAD_AC_genome:5884,GnomAD_AN_genome:30860,GnomAD:0.1907;SGVEP=ACKR1|+|NM_002036|1|c.21+115T>C|.|intronic GT:DP:AD:DP4 0/1:30:8,22:4,4,10,12 1 159175193 135772903 A G 438 off_target VARTYPE=1;BGN=0.00115949;ARL=227;DER=56;DEA=50;QR=37;QA=37;PBP=220;PBM=223;TYPE=SNP;DBXREF=dbSNP:rs3027016,g1000:0.0567,esp5400:0.1240,ExAC:0.1040,GnomAD_AC_exome:21710,GnomAD_AN_exome:203912,GnomAD_AC_genome:3293,GnomAD_AN_genome:30854,GnomAD:0.1065;SGVEP=ACKR1|+|NM_002036|2|c.22-58A>G|.|intronic GT:DP:AD:DP4 0/1:33:15,18:8,7,9,9 1 159175354 108309 G A 1115 PASS VARTYPE=1;BGN=0.00115949;ARL=221;DER=88;DEA=111;QR=36;QA=37;PBP=573;PBM=552;TYPE=SNP;DBXREF=dbSNP:rs12075,g1000:0.5405,esp5400:0.6975,ExAC:0.5230,PhyloP:-0.4840,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-1.0700,clinvar:rs12075,CLNSIG:Benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:126032,GnomAD_AN_exome:246062,GnomAD_AC_genome:19702,GnomAD_AN_genome:30906,GnomAD:0.5262;SGVEP=ACKR1|+|NM_001122951|1|c.131G>A|p.(Gly44Asp)|missense GT:DP:AD:DP4 0/1:111:62,49:32,30,25,24 1 160000435 135965200 A T 1046 PASS VARTYPE=1;BGN=0.00115949;ARL=241;DER=109;DEA=88;QR=37;QA=37;PBP=539;PBM=516;TYPE=SNP;DBXREF=dbSNP:rs12409352,g1000:0.0681,esp5400:0.1280,ExAC:0.1400,PhyloP:-0.1550,SIFT:0.6490,PolyPhen2:0.0780,PolyPhen2_HumDiv:0.1070,LRT:1.0000,MutationTaster:0.8750,GERP:-0.8270,GnomAD_AC_exome:35583,GnomAD_AN_exome:246220,GnomAD_AC_genome:4213,GnomAD_AN_genome:30968,GnomAD:0.1436;SGVEP=PIGM|-|NM_145167|1|c.1095T>A|p.(Phe365Leu)|missense GT:DP:AD:DP4 0/1:94:49,45:25,24,23,22 1 160090674 135975514 T C 2395 off_target VARTYPE=1;BGN=0.00115949;ARL=231;DEA=50;QA=37;PBP=1171;PBM=1230;TYPE=SNP;DBXREF=dbSNP:rs2854246,g1000:1.0000,esp5400:0.9996,ExAC:0.9950,GnomAD_AC_exome:165226,GnomAD_AN_exome:165240,GnomAD_AC_genome:30952,GnomAD_AN_genome:30960,GnomAD:0.9999;SGVEP=ATP1A2|+|NM_000702|2|c.13-22T>C|.|intronic GT:DP:AD:DP4 1/1:82:0,82:0,0,40,42 1 160090681 108453 CCCTT C 1314 off_target VARTYPE=1;BGN=0.000965875;ARL=228;DER=65;DEA=51;QR=37;QA=148;PBP=662;PBM=662;TYPE=INDEL;DBXREF=dbSNP:rs373796693,g1000:0.6893,ExAC:0.7560,clinvar:rs373796693,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:140554,GnomAD_AN_exome:174986,GnomAD_AC_genome:22559,GnomAD_AN_genome:30814,GnomAD:0.7926;SGVEP=ATP1A2|+|NM_000702|2|c.13-11_13-8del|.|intronic GT:DP:AD:DP4 0/1:88:35,52:18,17,26,26 1 160093222 108493 C T 2049 off_target VARTYPE=1;BGN=0.0013919;ARL=229;DEA=54;QA=36;PBP=998;PBM=1055;TYPE=SNP;DBXREF=dbSNP:rs2820581,g1000:0.9425,esp5400:0.9489,ExAC:0.9850,clinvar:rs2820581,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:242735,GnomAD_AN_exome:245646,GnomAD_AC_genome:29553,GnomAD_AN_genome:30916,GnomAD:0.9845;SGVEP=ATP1A2|+|NM_000702|4|c.381+16C>T|.|intronic GT:DP:AD:DP4 1/1:72:0,72:0,0,35,37 1 160093911 135976137 T C 827 off_target VARTYPE=1;BGN=0.0013919;ARL=259;DEA=104;QA=36;PBP=371;PBM=457;TYPE=SNP;DBXREF=dbSNP:rs2820582,g1000:0.9547,GnomAD_AC_genome:29860,GnomAD_AN_genome:30950,GnomAD:0.9648;SGVEP=ATP1A2|+|NM_000702|5|c.495+65T>C|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,13,16 1 160093942 135976147 G A 391 off_target VARTYPE=1;BGN=0.00115949;ARL=275;DER=119;DEA=103;QR=36;QA=37;PBP=200;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs17846707,g1000:0.1727,GnomAD_AC_genome:4607,GnomAD_AN_genome:30902,GnomAD:0.1491;SGVEP=ATP1A2|+|NM_000702|5|c.495+96G>A|.|intronic GT:DP:AD:DP4 0/1:29:13,16:6,7,8,8 1 160095127 135976371 T A 752 off_target VARTYPE=1;BGN=0.000965875;ARL=256;DEA=43;QA=38;PBP=331;PBM=422;TYPE=SNP;DBXREF=dbSNP:rs7548116,g1000:0.5777,GnomAD_AC_genome:18485,GnomAD_AN_genome:30806,GnomAD:0.6000;SGVEP=ATP1A2|+|NM_000702|7|c.748+84T>A|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,11,14 1 160097666 135976776 G A 1055 off_target VARTYPE=1;BGN=0.0013919;ARL=260;DEA=56;QA=36;PBP=514;PBM=542;TYPE=SNP;DBXREF=dbSNP:rs6695366,g1000:0.8153,GnomAD_AC_genome:26454,GnomAD_AN_genome:30914,GnomAD:0.8557;SGVEP=ATP1A2|+|NM_000702|8|c.1017+56G>A|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,18,19 1 160098543 108530 G A 1370 PASS VARTYPE=1;BGN=0.00115949;ARL=209;DER=98;DEA=78;QR=37;QA=37;PBP=700;PBM=682;TYPE=SNP;DBXREF=dbSNP:rs1063125,g1000:0.2097,esp5400:0.1934,PhyloP:-3.6460,MutationTaster:1.0000,GERP:-9.5500,clinvar:rs1063125,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:46845,GnomAD_AN_exome:246242,GnomAD_AC_genome:5629,GnomAD_AN_genome:30874,GnomAD:0.1894;SGVEP=ATP1A2|+|NM_000702|9|c.1119G>A|p.(Ser373:)|synonymous GT:DP:AD:DP4 0/1:122:63,59:33,30,30,29 1 160098927 135977186 AG AGG 1611 off_target VARTYPE=1;BGN=0.0013919;ARL=250;DER=29;DEA=61;QR=36;QA=36;PBP=772;PBM=846;TYPE=INDEL;DBXREF=dbSNP:rs397801520,g1000:0.7672,ExAC:0.8260,GnomAD_AC_exome:201760,GnomAD_AN_exome:246012,GnomAD_AC_genome:25602,GnomAD_AN_genome:30848,GnomAD:0.8212;SGVEP=ATP1A2|+|NM_000702|10|c.1326+49dupG|.|intronic GT:DP:AD:DP4 1/1:64:4,59:2,2,28,31 1 160319055 136024023 T C 278 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=295;DEA=34;QA=35;PBP=139;PBM=139;TYPE=SNP;DBXREF=dbSNP:rs12239946,g1000:0.1496,GnomAD_AC_genome:5323,GnomAD_AN_genome:30866,GnomAD:0.1725;SGVEP=NCSTN|+|NM_001290184|4|c.254+143T>C|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 160323814 136025319 G A 217 off_target VARTYPE=1;BGN=0.00200585;ARL=257;DER=32;DEA=86;QR=38;QA=34;PBP=111;PBM=111;TYPE=SNP;DBXREF=dbSNP:rs559728707,g1000:0.0002,GnomAD_AC_genome:4,GnomAD_AN_genome:30934,GnomAD:0.0001;SGVEP=NCSTN|+|NM_001290184|12|c.1120-94G>A|.|intronic GT:DP:AD:DP4 0/1:20:10,10:5,5,5,5 1 160803802 136136458 A G 411 off_target VARTYPE=1;BGN=0.00115949;ARL=221;DER=48;DEA=41;QR=37;QA=37;PBP=204;PBM=213;TYPE=SNP;DBXREF=dbSNP:rs11265493,g1000:0.5032,esp5400:0.5289,ExAC:0.5850,GnomAD_AC_exome:145442,GnomAD_AN_exome:244968,GnomAD_AC_genome:16272,GnomAD_AN_genome:30892,GnomAD:0.5862;SGVEP=CD244|-|NM_001166663|7|c.975+39T>C|.|intronic GT:DP:AD:DP4 0/1:24:8,16:5,3,8,8 1 161011317 136181890 A G 610 off_target VARTYPE=1;BGN=0.00167091;ARL=270;DEA=131;QA=35;PBP=305;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs2516840,g1000:0.7760,GnomAD_AC_genome:23495,GnomAD_AN_genome:30864,GnomAD:0.7612;SGVEP=USF1|-|NM_001276373|7|c.473-116T>C|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 1 161011355 136181893 G C 610 off_target VARTYPE=1;BGN=0.00167091;ARL=274;DEA=128;QA=35;PBP=333;PBM=278;TYPE=SNP;DBXREF=dbSNP:rs2073656,g1000:0.1711,GnomAD_AC_genome:6963,GnomAD_AN_genome:30872,GnomAD:0.2255;SGVEP=USF1|-|NM_001276373|6|c.472+86C>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,12,10 1 161011716 136182123 G C 324 low_coverage;off_target VARTYPE=1;BGN=0.00200585;ARL=244;DEA=54;QA=34;PBP=135;PBM=189;TYPE=SNP;DBXREF=dbSNP:rs2774276,g1000:0.7816,GnomAD_AC_genome:23846,GnomAD_AN_genome:30864,GnomAD:0.7726;SGVEP=USF1|-|NM_001276373|6|c.277-80C>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,5,7 1 161012590 136182563 G A 1822 off_target VARTYPE=1;BGN=0.0013919;ARL=230;DEA=86;QA=36;PBP=941;PBM=884;TYPE=SNP;DBXREF=dbSNP:rs2073655,g1000:0.1771,esp5400:0.2034,ExAC:0.2440,GnomAD_AC_exome:61699,GnomAD_AN_exome:246258,GnomAD_AC_genome:6976,GnomAD_AN_genome:30934,GnomAD:0.2478;SGVEP=USF1|-|NM_001276373|3|c.58+33C>T|.|intronic GT:DP:AD:DP4 1/1:64:0,64:0,0,33,31 1 161013121 136182767 C T 1084 off_target VARTYPE=1;BGN=0.00115949;ARL=191;DEA=51;QA=37;PBP=528;PBM=557;TYPE=SNP;DBXREF=dbSNP:rs2516839,g1000:0.3968,esp5400:0.5356,GnomAD_AC_genome:15125,GnomAD_AN_genome:30894,GnomAD:0.4896;SGVEP=USF1|-|NM_001276373|2|c.-56G>A|.|5'UTR GT:DP:AD:DP4 1/1:37:0,37:0,0,18,19 1 161049358 136206999 G A 2395 off_target VARTYPE=1;BGN=0.00115949;ARL=224;DER=7;DEA=68;QR=38;QA=37;PBP=1230;PBM=1171;TYPE=SNP;DBXREF=dbSNP:rs3820097,g1000:0.8606,esp5400:0.9297,ExAC:0.8630,GnomAD_AC_exome:195359,GnomAD_AN_exome:225686,GnomAD_AC_genome:27829,GnomAD_AN_genome:30922,GnomAD:0.8698;SGVEP=NECTIN4|-|NM_030916|2|c.439+22C>T|.|intronic GT:DP:AD:DP4 1/1:82:0,82:0,0,42,40 1 161136843 136226633 C G 408 off_target VARTYPE=1;BGN=0.00167091;ARL=248;DER=102;DEA=81;QR=35;QA=35;PBP=195;PBM=220;TYPE=SNP;DBXREF=dbSNP:rs2301287,g1000:0.3534,esp5400:0.3432,ExAC:0.3710,GnomAD_AC_exome:91126,GnomAD_AN_exome:246046,GnomAD_AC_genome:10595,GnomAD_AN_genome:30898,GnomAD:0.3673;SGVEP=PPOX|+|NM_000309|3|c.88-47C>G|.|intronic GT:DP:AD:DP4 0/1:43:22,19:11,11,9,10 1 161143312 136228031 T C 349 off_target VARTYPE=1;BGN=0.0013919;ARL=268;DER=35;DEA=42;QR=34;QA=36;PBP=213;PBM=142;TYPE=SNP;DBXREF=dbSNP:rs11579514,g1000:0.2538,GnomAD_AC_genome:7768,GnomAD_AN_genome:30860,GnomAD:0.2517;SGVEP=B4GALT3|-|NM_001199873|6|c.803+83A>G|.|intronic GT:DP:AD:DP4 0/1:29:14,15:8,6,9,6 1 161176137 136242788 A G 332 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=248;DER=17;DEA=64;QR=38;QA=37;PBP=168;PBM=168;TYPE=SNP;DBXREF=dbSNP:rs4656993,g1000:0.7045,GnomAD_AC_genome:18477,GnomAD_AN_genome:30902,GnomAD:0.5979;SGVEP=NDUFS2|+|NM_001166159|3|c.203-60A>G|.|intronic GT:DP:AD:DP4 1/1:14:2,12:1,1,6,6 1 161179877 136244220 G A 738 off_target VARTYPE=1;BGN=0.00115949;ARL=227;DER=70;DEA=59;QR=36;QA=37;PBP=355;PBM=391;TYPE=SNP;DBXREF=dbSNP:rs4656994,g1000:0.2646,esp5400:0.2108,ExAC:0.2480,GnomAD_AC_exome:61414,GnomAD_AN_exome:246206,GnomAD_AC_genome:6580,GnomAD_AN_genome:30912,GnomAD:0.2454;SGVEP=NDUFS2|+|NM_001166159|7|c.703-24G>A|.|intronic GT:DP:AD:DP4 0/1:60:29,31:16,13,15,16 1 161183516 108996 C T 842 PASS VARTYPE=1;BGN=0.00115949;ARL=230;DER=117;DEA=88;QR=36;QA=37;PBP=438;PBM=412;TYPE=SNP;DBXREF=dbSNP:rs1136207,g1000:0.1581,esp5400:0.1074,ExAC:0.1520,clinvar:rs1136207,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:38636,GnomAD_AN_exome:246242,GnomAD_AC_genome:3717,GnomAD_AN_genome:30932,GnomAD:0.1528;SGVEP=NDUFS2|+|NM_001166159|12|c.1290C>T|p.(Ala430:)|synonymous GT:DP:AD:DP4 0/1:85:48,37:24,24,19,18 1 161192845 136248867 CCACACA C 544 PASS VARTYPE=1;BGN=0.000965875;ARL=221;DER=20;DEA=113;QR=35;QA=204;PBP=266;PBM=287;NVF=0.57;TYPE=INDEL;DBXREF=dbSNP:rs141599125,ExAC:0.2570,clinvar:rs141599125,CLNSIG:Uncertain_significance,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:51989,GnomAD_AN_exome:182632,GnomAD_AC_genome:9275,GnomAD_AN_genome:28434,GnomAD:0.2903;SGVEP=APOA2|-|NM_001643|3|c.53-11_53-6del|.|intronic GT:DP:AD:DP4 0/1:121:62,27:32,30,13,14 1 161192845 136248884 CCACACACACACA C 447 PASS VARTYPE=1;BGN=0.000965875;ARL=221;DER=20;DEA=83;QR=35;QA=445;PBP=193;PBM=263;NVF=0.37;TYPE=INDEL;DBXREF=dbSNP:rs72374375,ExAC:0.1610,GnomAD_AC_exome:31262,GnomAD_AN_exome:182632,GnomAD_AC_genome:4353,GnomAD_AN_genome:28434,GnomAD:0.1687;SGVEP=APOA2|-|NM_001643|3|c.53-17_53-6del|.|intronic GT:DP:AD:DP4 0/1:121:62,23:32,30,10,13 1 161200487 136251787 C A 742 off_target VARTYPE=1;BGN=0.0013919;ARL=261;DEA=38;QA=36;PBP=428;PBM=314;TYPE=SNP;DBXREF=dbSNP:rs4073054,g1000:0.7654,GnomAD_AC_genome:20887,GnomAD_AN_genome:30850,GnomAD:0.6771;SGVEP=NR1I3|-|NM_001077469|8|c.932+116G>T|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,15,11 1 161200586 109024 T G 674 off_target VARTYPE=1;BGN=0.00115949;ARL=232;DER=76;DEA=78;QR=36;QA=37;PBP=375;PBM=308;TYPE=SNP;DBXREF=dbSNP:rs2307418,g1000:0.0827,esp5400:0.1134,ExAC:0.1320,clinvar:rs2307418,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:32280,GnomAD_AN_exome:245600,GnomAD_AC_genome:3571,GnomAD_AN_genome:30928,GnomAD:0.1296;SGVEP=NR1I3|-|NM_001077469|8|c.932+17A>C|.|intronic GT:DP:AD:DP4 0/1:118:83,33:43,40,18,15 1 161203227 136253122 G A 246 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=267;DER=80;DEA=47;QR=35;QA=36;PBP=130;PBM=122;TYPE=SNP;DBXREF=dbSNP:rs2502815,g1000:0.3377,GnomAD_AC_genome:8573,GnomAD_AN_genome:30882,GnomAD:0.2776;SGVEP=NR1I3|-|NM_001077469|4|c.239-99C>T|.|intronic GT:DP:AD:DP4 0/1:16:6,10:2,4,5,5 1 161276434 136268402 A G 908 off_target VARTYPE=1;BGN=0.00115949;ARL=258;DEA=73;QA=37;PBP=469;PBM=440;TYPE=SNP;DBXREF=dbSNP:rs6674383,g1000:1.0000,GnomAD_AC_genome:30906,GnomAD_AN_genome:30906,GnomAD:1.0000;SGVEP=MPZ|-|NM_000530|3|c.448+64T>C|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,16,15 1 161293496 136274225 T A 576 off_target VARTYPE=1;BGN=0.00115949;ARL=227;DER=39;DEA=60;QR=38;QA=37;PBP=305;PBM=278;TYPE=SNP;DBXREF=dbSNP:rs117507008,g1000:0.0944,esp5400:0.0334,ExAC:0.0510,clinvar:rs117507008,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:12218,GnomAD_AN_exome:228210,GnomAD_AC_genome:1656,GnomAD_AN_genome:30856,GnomAD:0.0536;SGVEP=SDHC|+|NM_001035511|2|c.77+36T>A|.|intronic GT:DP:AD:DP4 0/1:37:14,23:7,7,12,11 1 161475750 136325243 G A 471 off_target VARTYPE=1;BGN=0.00115949;ARL=213;DER=73;DEA=80;QR=37;QA=37;PBP=263;PBM=215;TYPE=SNP;DBXREF=dbSNP:rs10494360,g1000:0.0565,esp5400:0.0971,ExAC:0.1030,GnomAD_AC_exome:25724,GnomAD_AN_exome:246238,GnomAD_AC_genome:2569,GnomAD_AN_genome:30952,GnomAD:0.1021;SGVEP=FCGR2A|+|NM_001136219|2|c.86-27G>A|.|intronic GT:DP:AD:DP4 0/1:67:45,22:23,22,12,10 1 161475875 136325303 G A 499 off_target VARTYPE=1;BGN=0.00115949;ARL=227;DER=44;DEA=55;QR=36;QA=37;PBP=200;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs56315079,g1000:0.0230,esp5400:0.0325,GnomAD_AC_genome:974,GnomAD_AN_genome:30936,GnomAD:0.0315;SGVEP=FCGR2A|+|NM_001136219|2|c.106+78G>A|.|intronic GT:DP:AD:DP4 0/1:33:13,20:6,7,8,12 1 161480649 136325836 A G 1400 PASS VARTYPE=1;BGN=0.00115949;ARL=206;DER=77;DEA=75;QR=37;QA=37;PBP=703;PBM=710;TYPE=SNP;DBXREF=dbSNP:rs11810143,g1000:0.0553,esp5400:0.0940,ExAC:0.1020,clinvar:rs11810143,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:25541,GnomAD_AN_exome:246218,GnomAD_AC_genome:2503,GnomAD_AN_genome:30904,GnomAD:0.1012;SGVEP=FCGR2A|+|NM_001136219|5|c.645A>G|p.(Pro215:)|synonymous GT:DP:AD:DP4 0/1:143:81,62:42,39,31,31 1 162313597 136477384 T C 1026 off_target VARTYPE=1;BGN=0.0013919;ARL=259;DEA=82;QA=36;PBP=542;PBM=485;TYPE=SNP;DBXREF=dbSNP:rs347278,g1000:0.9259,esp5400:0.9184,ExAC:0.9660,GnomAD_AC_exome:238594,GnomAD_AN_exome:246074,GnomAD_AC_genome:28759,GnomAD_AN_genome:30974,GnomAD:0.9650;SGVEP=NOS1AP|+|NM_001164757|6|c.439-28T>C|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,19,17 1 162313735 136477460 C T 2946 PASS VARTYPE=1;BGN=0.00115949;ARL=213;DER=23;DEA=89;QR=12;QA=37;PBP=1346;PBM=1609;TYPE=SNP;DBXREF=dbSNP:rs3751284,g1000:0.4309,esp5400:0.3339,ExAC:0.4070,GnomAD_AC_exome:101392,GnomAD_AN_exome:245652,GnomAD_AC_genome:11478,GnomAD_AN_genome:30872,GnomAD:0.4082;SGVEP=NOS1AP|+|NM_001164757|6|c.549C>T|p.(Ser183:)|synonymous GT:DP:AD:DP4 1/1:101:0,101:0,0,46,55 1 162335256 136481420 C T 1153 PASS VARTYPE=1;BGN=0.00115949;ARL=221;DER=93;DEA=104;QR=37;QA=37;PBP=583;PBM=581;TYPE=SNP;DBXREF=dbSNP:rs348624,g1000:0.2508,esp5400:0.2170,ExAC:0.1730,GnomAD_AC_exome:41425,GnomAD_AN_exome:245696,GnomAD_AC_genome:6137,GnomAD_AN_genome:30930,GnomAD:0.1719;SGVEP=NOS1AP|+|NM_001126060|1|c.117C>T|p.(Arg39:)|synonymous GT:DP:AD:DP4 0/1:107:57,50:28,29,25,25 1 162335424 136481460 T C 464 off_target VARTYPE=1;BGN=0.000965875;ARL=240;DER=37;DEA=52;QR=36;QA=38;PBP=224;PBM=246;TYPE=SNP;DBXREF=dbSNP:rs1964052,g1000:0.7192,GnomAD_AC_genome:24050,GnomAD_AN_genome:30926,GnomAD:0.7777;SGVEP=NOS1AP|+|NM_001126060|1|c.220+65T>C|.|intronic GT:DP:AD:DP4 0/1:39:20,19:9,11,9,10 1 162722846 136552698 C G 1200 off_target VARTYPE=1;BGN=0.00115949;ARL=217;DEA=39;QA=37;PBP=616;PBM=586;TYPE=SNP;DBXREF=dbSNP:rs1632311,g1000:0.9704,esp5400:0.9722,ExAC:0.9920,clinvar:rs1632311,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:243850,GnomAD_AN_exome:245320,GnomAD_AC_genome:30202,GnomAD_AN_genome:30970,GnomAD:0.9919;SGVEP=DDR2|+|NM_001014796|5|c.83-39C>G|.|intronic GT:DP:AD:DP4 1/1:41:0,41:0,0,21,20 1 162725655 136553521 A C 452 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=257;DEA=41;QA=38;PBP=241;PBM=211;TYPE=SNP;DBXREF=dbSNP:rs1115570,g1000:0.9279,GnomAD_AC_genome:29124,GnomAD_AN_genome:30942,GnomAD:0.9412;SGVEP=DDR2|+|NM_001014796|8|c.671+96A>C|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 1 162740327 136569454 T C 1054 off_target VARTYPE=1;BGN=0.00115949;ARL=235;DEA=59;QA=37;PBP=499;PBM=557;TYPE=SNP;DBXREF=dbSNP:rs1780003,g1000:0.9455,esp5400:0.9462,ExAC:0.9850,PhyloP:-3.5080,SIFT:1.0000,MutationTaster:0.0000,GERP:-10.1000,clinvar:rs1780003,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:242513,GnomAD_AN_exome:245376,GnomAD_AC_genome:29506,GnomAD_AN_genome:30924,GnomAD:0.9845;SGVEP=DDR2|+|NM_001014796|13|c.1504+25T>C|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,17,19 1 162743418 136569979 G T 2453 off_target VARTYPE=1;BGN=0.00115949;ARL=215;DEA=47;QA=37;PBP=1230;PBM=1230;TYPE=SNP;DBXREF=dbSNP:rs1355287,g1000:0.9924,esp5400:0.9954,ExAC:0.9990,clinvar:rs1355287,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:245646,GnomAD_AN_exome:245908,GnomAD_AC_genome:30847,GnomAD_AN_genome:30976,GnomAD:0.9986;SGVEP=DDR2|+|NM_001014796|15|c.1856+32G>T|.|intronic GT:DP:AD:DP4 1/1:84:0,84:0,0,42,42 1 162748588 136571144 C A 742 off_target VARTYPE=1;BGN=0.0013919;ARL=254;DEA=50;QA=36;PBP=314;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs907074,g1000:0.9688,GnomAD_AC_genome:30086,GnomAD_AN_genome:30956,GnomAD:0.9719;SGVEP=DDR2|+|NM_001014796|18|c.2433+69C>A|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,11,15 1 162749761 136571301 T C 314 low_coverage;off_target VARTYPE=1;BGN=0.00240792;ARL=284;DEA=51;QA=33;PBP=157;PBM=157;TYPE=SNP;DBXREF=dbSNP:rs1510315,g1000:0.9455,GnomAD_AC_genome:29522,GnomAD_AN_genome:30944,GnomAD:0.9540;SGVEP=DDR2|+|NM_001014796|19|c.2434-141T>C|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 164789444 136984364 A G 1551 off_target VARTYPE=1;BGN=0.00115949;ARL=210;DEA=48;QA=37;PBP=762;PBM=791;TYPE=SNP;DBXREF=dbSNP:rs1538488,g1000:1.0000,esp5400:0.9999,ExAC:1.0000,GnomAD_AC_exome:244546,GnomAD_AN_exome:244592,GnomAD_AC_genome:30954,GnomAD_AN_genome:30960,GnomAD:0.9998;SGVEP=PBX1|+|NM_001204961|7|c.998-1330A>G|.|intronic GT:DP:AD:DP4 1/1:53:0,53:0,0,26,27 1 165624799 137186255 G T 268 off_target VARTYPE=1;BGN=0.0013919;ARL=246;DER=55;DEA=37;QR=35;QA=36;PBP=137;PBM=137;TYPE=SNP;DBXREF=dbSNP:rs8133,g1000:0.2534,GnomAD_AC_genome:10237,GnomAD_AN_genome:30854,GnomAD:0.3318;SGVEP=MGST3|+|NM_004528|6|c.*58G>T|.|3'UTR GT:DP:AD:DP4 0/1:28:16,12:8,8,6,6 1 165737704 137208608 C G 1784 off_target VARTYPE=1;BGN=0.00115949;ARL=223;DEA=84;QA=37;PBP=967;PBM=820;TYPE=SNP;DBXREF=dbSNP:rs2790053,g1000:0.9215,ExAC:0.8450,GnomAD_AC_exome:123858,GnomAD_AN_exome:138460,GnomAD_AC_genome:27481,GnomAD_AN_genome:30932,GnomAD:0.8934;SGVEP=TMCO1|-|NM_001256164|2|c.147-223G>C|.|intronic GT:DP:AD:DP4 1/1:61:0,61:0,0,33,28 1 167403212 137530244 G A 920 off_target VARTYPE=1;BGN=0.00115949;ARL=236;DER=50;DEA=69;QR=37;QA=37;PBP=476;PBM=452;TYPE=SNP;DBXREF=dbSNP:rs952963,g1000:0.1571,esp5400:0.1453,ExAC:0.1200,GnomAD_AC_exome:28695,GnomAD_AN_exome:246256,GnomAD_AC_genome:4328,GnomAD_AN_genome:30908,GnomAD:0.1191;SGVEP=CD247|-|NM_000734|6|c.390+45C>T|.|intronic GT:DP:AD:DP4 0/1:60:23,37:12,11,19,18 1 167408565 137531747 G T 678 off_target VARTYPE=1;BGN=0.00115949;ARL=231;DER=45;DEA=78;QR=37;QA=37;PBP=341;PBM=344;TYPE=SNP;DBXREF=dbSNP:rs12141641,g1000:0.1436,esp5400:0.1056,ExAC:0.1210,GnomAD_AC_exome:29573,GnomAD_AN_exome:246152,GnomAD_AC_genome:3591,GnomAD_AN_genome:30904,GnomAD:0.1197;SGVEP=CD247|-|NM_000734|3|c.219+16C>A|.|intronic GT:DP:AD:DP4 0/1:51:23,28:12,11,14,14 1 167408670 137531843 C T 527 off_target VARTYPE=1;BGN=0.000965875;ARL=224;DER=71;DEA=97;QR=36;QA=38;PBP=254;PBM=280;TYPE=SNP;DBXREF=dbSNP:rs840016,g1000:0.1907,esp5400:0.2970,ExAC:0.3100,GnomAD_AC_exome:76366,GnomAD_AN_exome:245322,GnomAD_AC_genome:8234,GnomAD_AN_genome:30894,GnomAD:0.3063;SGVEP=CD247|-|NM_000734|3|c.163-33G>A|.|intronic GT:DP:AD:DP4 0/1:61:38,23:19,19,11,12 1 167487586 137547013 C G 242 off_target VARTYPE=1;BGN=0.00167091;ARL=223;DER=84;DEA=77;QR=38;QA=35;PBP=124;PBM=124;TYPE=SNP;DBXREF=dbSNP:rs35864197,g1000:0.1108,esp5400:0.1633,GnomAD_AC_genome:4315,GnomAD_AN_genome:30912,GnomAD:0.1396;SGVEP=CD247|-|NM_000734|1|c.58+59G>C|.|intronic GT:DP:AD:DP4 0/1:36:24,12:12,12,6,6 1 167778843 137603437 G A 276 off_target VARTYPE=1;BGN=0.000965875;ARL=255;DER=54;DEA=60;QR=34;QA=38;PBP=151;PBM=130;TYPE=SNP;DBXREF=dbSNP:rs3213588,g1000:0.4710,GnomAD_AC_genome:15024,GnomAD_AN_genome:30886,GnomAD:0.4864;SGVEP=ADCY10|-|NM_001167749|30|c.*72C>T|.|3'UTR GT:DP:AD:DP4 0/1:21:9,11:6,3,6,5 1 167787265 137605031 C T 214 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=236;DER=62;DEA=31;QR=38;QA=37;PBP=123;PBM=96;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12060498,g1000:0.1190,esp5400:0.1814,ExAC:0.1330,GnomAD_AC_exome:32030,GnomAD_AN_exome:243524,GnomAD_AC_genome:5010,GnomAD_AN_genome:30950,GnomAD:0.1349;SGVEP=ADCY10|-|NM_001167749|28|c.4023+45G>A|.|intronic GT:DP:AD:DP4 0/1:19:10,9:5,5,5,4 1 167793670 137606579 C T 371 off_target VARTYPE=1;BGN=0.0013919;ARL=258;DER=51;DEA=77;QR=35;QA=36;PBP=201;PBM=175;TYPE=SNP;DBXREF=dbSNP:rs1476074,g1000:0.3718,esp5400:0.3932,ExAC:0.4040,GnomAD_AC_exome:101268,GnomAD_AN_exome:246130,GnomAD_AC_genome:12137,GnomAD_AN_genome:30902,GnomAD:0.4094;SGVEP=ADCY10|-|NM_001167749|25|c.3593+44G>A|.|intronic GT:DP:AD:DP4 0/1:23:8,15:4,4,8,7 1 167815514 137612734 G A 659 off_target VARTYPE=1;BGN=0.00115949;ARL=221;DER=50;DEA=53;QR=37;QA=37;PBP=322;PBM=345;TYPE=SNP;DBXREF=dbSNP:rs35398078,g1000:0.0509,esp5400:0.0955,ExAC:0.0870,GnomAD_AC_exome:21983,GnomAD_AN_exome:245676,GnomAD_AC_genome:2411,GnomAD_AN_genome:30940,GnomAD:0.0882;SGVEP=ADCY10|-|NM_001167749|17|c.1979-13C>T|.|intronic GT:DP:AD:DP4 0/1:68:39,29:19,20,14,15 1 167817639 137613077 A G 254 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=209;DER=77;DEA=89;QR=37;QA=38;PBP=143;PBM=118;TYPE=SNP;DBXREF=dbSNP:rs203795,g1000:0.8221,esp5400:0.7720,ExAC:0.7550,GnomAD_AC_exome:186916,GnomAD_AN_exome:246184,GnomAD_AC_genome:24225,GnomAD_AN_genome:30886,GnomAD:0.7620;SGVEP=ADCY10|-|NM_001167749|16|c.1938T>C|p.(Gly646:)|synonymous GT:DP:AD:DP4 0/1:71:58,13:28,30,7,6 1 167839679 137617851 C T 316 off_target VARTYPE=1;BGN=0.000965875;ARL=245;DER=76;DEA=29;QR=35;QA=38;PBP=146;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs75383572,g1000:0.0539,esp5400:0.0681,GnomAD_AC_exome:15981,GnomAD_AN_exome:224444,GnomAD_AC_genome:1795,GnomAD_AN_genome:30828,GnomAD:0.0696;SGVEP=ADCY10|-|NM_001167749|11|c.1004-31G>A|.|intronic GT:DP:AD:DP4 0/1:28:15,13:8,7,6,7 1 167844553 137618757 C A 153 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=264;DER=18;DEA=28;QR=34;QA=37;PBP=78;PBM=78;SP=0;TYPE=SNP;DBXREF=dbSNP:rs203826,g1000:0.3157,GnomAD_AC_genome:9971,GnomAD_AN_genome:30920,GnomAD:0.3225;SGVEP=ADCY10|-|NM_001167749|10|c.948-129G>T|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 1 167847584 137619420 T C 151 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=256;DER=17;DEA=33;QR=37;QA=38;PBP=77;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs203838,g1000:0.3237,GnomAD_AC_genome:10622,GnomAD_AN_genome:30884,GnomAD:0.3439;SGVEP=ADCY10|-|NM_001167749|9|c.947+100A>G|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 1 167849318 137619998 A G 572 off_target VARTYPE=1;BGN=0.000965875;ARL=210;DER=51;DEA=56;QR=37;QA=38;PBP=303;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs203847,g1000:0.2855,esp5400:0.3633,ExAC:0.2840,GnomAD_AC_exome:65717,GnomAD_AN_exome:223452,GnomAD_AC_genome:10404,GnomAD_AN_genome:30896,GnomAD:0.2993;SGVEP=ADCY10|-|NM_001167749|8|c.757+35T>C|.|intronic GT:DP:AD:DP4 0/1:43:20,23:10,10,12,11 1 167849327 137620013 G A 685 off_target VARTYPE=1;BGN=0.00115949;ARL=210;DER=61;DEA=55;QR=38;QA=37;PBP=344;PBM=348;TYPE=SNP;DBXREF=dbSNP:rs203848,g1000:0.1759,esp5400:0.2057,ExAC:0.0970,GnomAD_AC_exome:21141,GnomAD_AN_exome:231354,GnomAD_AC_genome:5388,GnomAD_AN_genome:30936,GnomAD:0.1011;SGVEP=ADCY10|-|NM_001167749|8|c.757+26C>T|.|intronic GT:DP:AD:DP4 0/1:49:21,28:11,10,14,14 1 167849414 137620097 A G 1784 PASS VARTYPE=1;BGN=0.00115949;ARL=211;DEA=74;QA=37;PBP=908;PBM=879;TYPE=SNP;DBXREF=dbSNP:rs203849,g1000:0.4932,esp5400:0.5350,ExAC:0.4740,GnomAD_AC_exome:114892,GnomAD_AN_exome:242752,GnomAD_AC_genome:15608,GnomAD_AN_genome:30914,GnomAD:0.4769;SGVEP=ADCY10|-|NM_001167749|8|c.696T>C|p.(Gly232:)|synonymous GT:DP:AD:DP4 1/1:61:0,61:0,0,31,30 1 167849658 137620255 C G 266 off_target VARTYPE=1;BGN=0.00167091;ARL=249;DER=37;DEA=46;QR=35;QA=35;PBP=132;PBM=140;TYPE=SNP;DBXREF=dbSNP:rs76779157,g1000:0.0517,GnomAD_AC_genome:2136,GnomAD_AN_genome:30962,GnomAD:0.0690;SGVEP=ADCY10|-|NM_001167749|7|c.680+71G>C|.|intronic GT:DP:AD:DP4 0/1:25:13,12:8,5,6,6 1 167865871 137625177 G A 383 PASS VARTYPE=1;BGN=0.0013919;ARL=212;DER=103;DEA=105;QR=38;QA=36;PBP=182;PBM=207;TYPE=SNP;DBXREF=dbSNP:rs16859886,g1000:0.0759,esp5400:0.1068,ExAC:0.0720,PhyloP:0.9590,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:5.3200,GnomAD_AC_exome:17220,GnomAD_AN_exome:246252,GnomAD_AC_genome:2785,GnomAD_AN_genome:30948,GnomAD:0.0722;SGVEP=ADCY10|-|NM_001167749|4|c.242C>T|p.(Thr81Met)|missense GT:DP:AD:DP4 0/1:37:20,17:10,10,8,9 1 168262289 137697077 A G 176 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=229;DER=23;DEA=44;QR=32;QA=38;PBP=102;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7543224,g1000:0.5807,GnomAD_AC_genome:19174,GnomAD_AN_genome:30606,GnomAD:0.6265;SGVEP=TBX19|+|NM_005149|3|c.469-93A>G|.|intronic GT:DP:AD:DP4 0/1:14:7,7:4,3,4,3 1 168262299 137697082 C T 251 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=228;DER=33;DEA=39;QR=36;QA=37;PBP=153;PBM=102;TYPE=SNP;DBXREF=dbSNP:rs7520743,g1000:0.3698,GnomAD_AC_genome:14290,GnomAD_AN_genome:30614,GnomAD:0.4668;SGVEP=TBX19|+|NM_005149|3|c.469-83C>T|.|intronic GT:DP:AD:DP4 0/1:17:7,10:4,3,6,4 1 168262522 137697206 AGT A 173 off_target VARTYPE=1;BGN=0.000965875;ARL=218;DER=69;DEA=104;QR=34;QA=70;PBP=78;PBM=102;SP=1;TYPE=INDEL;DBXREF=dbSNP:rs886045510,ExAC:0.0280,clinvar:rs886045510,CLNSIG:Uncertain_significance,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:1058,GnomAD_AN_genome:21512,GnomAD:0.0492;SGVEP=TBX19|+|NM_005149|3|c.603+47_603+48del|.|intronic GT:DP:AD:DP4 0/1:55:43,9:23,20,4,5 1 168262527 137697700 G T 398 off_target VARTYPE=1;BGN=0.00200585;ARL=216;DER=58;DEA=94;QR=36;QA=34;PBP=201;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs12096093,esp5400:0.1943,ExAC:0.1450,clinvar:rs12096093,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:23474,GnomAD_AN_exome:160800,GnomAD_AC_genome:2824,GnomAD_AN_genome:26936,GnomAD:0.1401;SGVEP=TBX19|+|NM_005149|3|c.603+11G>T|.|intronic GT:DP:AD:DP4 0/1:52:32,20:17,15,10,10 1 168274201 137699827 G A 575 off_target VARTYPE=1;BGN=0.00115949;ARL=240;DER=46;DEA=56;QR=35;QA=37;PBP=303;PBM=280;TYPE=SNP;DBXREF=dbSNP:rs4656579,g1000:0.4876,esp5400:0.6302,ExAC:0.6030,GnomAD_AC_exome:145700,GnomAD_AN_exome:241490,GnomAD_AC_genome:18842,GnomAD_AN_genome:30894,GnomAD:0.6041;SGVEP=TBX19|+|NM_005149|6|c.728-45G>A|.|intronic GT:DP:AD:DP4 0/1:56:30,25:15,15,13,12 1 169076212 137883298 G C 155 off_target VARTYPE=1;BGN=0.00115949;ARL=243;DER=64;DEA=65;QR=38;QA=37;PBP=67;PBM=92;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1200128,g1000:0.1174,esp5400:0.2245,ExAC:0.2110,GnomAD_AC_exome:39367,GnomAD_AN_exome:156162,GnomAD_AC_genome:7078,GnomAD_AN_genome:30830,GnomAD:0.2484;SGVEP=ATP1B1|+|NM_001677|1|c.97+48G>C|.|intronic GT:DP:AD:DP4 0/1:21:14,7:7,7,3,4 1 169080837 137883989 C T 243 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=253;DER=50;DEA=45;QR=35;QA=36;PBP=122;PBM=125;TYPE=SNP;DBXREF=dbSNP:rs1200138,g1000:0.7468,GnomAD_AC_genome:22027,GnomAD_AN_genome:30932,GnomAD:0.7121;SGVEP=ATP1B1|+|NM_001677|2|c.226+101C>T|.|intronic GT:DP:AD:DP4 0/1:17:7,10:4,3,5,5 1 169094100 137886528 T A 967 off_target VARTYPE=1;BGN=0.00115949;ARL=226;DEA=42;QA=37;PBP=499;PBM=469;TYPE=SNP;DBXREF=dbSNP:rs968304,g1000:0.6579,esp5400:0.6179,ExAC:0.6070,GnomAD_AC_exome:146305,GnomAD_AN_exome:240082,GnomAD_AC_genome:19289,GnomAD_AN_genome:30870,GnomAD:0.6112;SGVEP=ATP1B1|+|NM_001677|3|c.227-22T>A|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,17,16 1 169101935 137888759 C T 346 PASS VARTYPE=1;BGN=0.000965875;ARL=227;DER=44;DEA=26;QR=37;QA=38;PBP=176;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs1138486,g1000:0.2688,GnomAD_AC_genome:4116,GnomAD_AN_genome:30936,GnomAD:0.1330;SGVEP=ATP1B1|+|NM_001677|6|c.*1142C>T|.|3'UTR GT:DP:AD:DP4 0/1:28:14,14:7,7,7,7 1 169138868 137896242 C T 215 off_target VARTYPE=1;BGN=0.00167091;ARL=229;DER=26;DEA=24;QR=37;QA=35;PBP=112;PBM=108;TYPE=SNP;DBXREF=dbSNP:rs3737681,g1000:0.4006,GnomAD_AC_genome:11775,GnomAD_AN_genome:30886,GnomAD:0.3812;SGVEP=NME7|-|NM_013330|11|c.991-76G>A|.|intronic GT:DP:AD:DP4 0/1:24:14,10:6,8,5,5 1 169200111 137906851 C T 288 off_target VARTYPE=1;BGN=0.00115949;ARL=253;DER=54;DEA=73;QR=37;QA=37;PBP=146;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs10800420,g1000:0.4111,GnomAD_AC_genome:11969,GnomAD_AN_genome:30864,GnomAD:0.3878;SGVEP=NME7|-|NM_013330|10|c.889-54G>A|.|intronic GT:DP:AD:DP4 0/1:24:12,12:6,6,6,6 1 169256524 137921420 T C 889 off_target VARTYPE=1;BGN=0.00115949;ARL=219;DER=47;DEA=86;QR=36;QA=37;PBP=445;PBM=452;TYPE=SNP;DBXREF=dbSNP:rs7544446,g1000:0.1120,esp5400:0.0957,ExAC:0.0640,GnomAD_AC_exome:14826,GnomAD_AN_exome:243232,GnomAD_AC_genome:2469,GnomAD_AN_genome:30944,GnomAD:0.0631;SGVEP=NME7|-|NM_013330|7|c.754+17A>G|.|intronic GT:DP:AD:DP4 0/1:60:24,36:13,11,18,18 1 169268023 137923456 A G 523 off_target VARTYPE=1;BGN=0.00167091;ARL=240;DER=35;DEA=36;QR=36;QA=35;PBP=269;PBM=260;TYPE=SNP;DBXREF=dbSNP:rs57776592,g1000:0.0845,esp5400:0.0660,ExAC:0.0550,GnomAD_AC_exome:13111,GnomAD_AN_exome:240164,GnomAD_AC_genome:1690,GnomAD_AN_genome:30960,GnomAD:0.0546;SGVEP=NME7|-|NM_013330|6|c.441-22T>C|.|intronic GT:DP:AD:DP4 0/1:34:12,22:5,7,11,11 1 169279196 137925822 TAAAAAAA TAAAAAAAA 234 PASS VARTYPE=1;BGN=0.0454771;ARL=224;DER=57;DEA=70;QR=36;QA=36;HL=7;PBP=119;PBM=122;TYPE=INDEL;DBXREF=dbSNP:rs561377487,g1000:0.2274,ExAC:0.3470,GnomAD_AC_exome:77088,GnomAD_AN_exome:218516,GnomAD_AC_genome:10798,GnomAD_AN_genome:30844,GnomAD:0.3524;SGVEP=NME7|-|NM_013330|4|c.389+11dupT|.|intronic GT:DP:AD:DP4 0/1:61:31,30:16,15,15,15 1 169293721 137928529 G A 589 PASS VARTYPE=1;BGN=0.00115949;ARL=199;DER=51;DEA=86;QR=38;QA=37;PBP=273;PBM=324;TYPE=SNP;DBXREF=dbSNP:rs1140523,g1000:0.2270,esp5400:0.3587,ExAC:0.3480,GnomAD_AC_exome:86328,GnomAD_AN_exome:244654,GnomAD_AC_genome:10816,GnomAD_AN_genome:30898,GnomAD:0.3525;SGVEP=NME7|-|NM_013330|2|c.21C>T|p.(Phe7:)|synonymous GT:DP:AD:DP4 0/1:62:36,26:18,18,12,14 1 169435027 137963560 C T 762 off_target VARTYPE=1;BGN=0.00115949;ARL=253;DEA=60;QA=37;PBP=381;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs2678166,g1000:0.9976,clinvar:rs2678166,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:30535,GnomAD_AN_genome:30982,GnomAD:0.9856;SGVEP=SLC19A2|-|NM_001319667|5|c.*60G>A|.|3'UTR GT:DP:AD:DP4 1/1:26:0,26:0,0,13,13 1 169455008 109901 G A 1189 PASS VARTYPE=1;BGN=0.0013919;ARL=205;DER=44;DEA=52;QR=35;QA=36;PBP=511;PBM=689;TYPE=SNP;DBXREF=dbSNP:rs2072757,g1000:0.1975,esp5400:0.1109,ExAC:0.1060,clinvar:rs2072757,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:18319,GnomAD_AN_exome:121366,GnomAD_AC_genome:4630,GnomAD_AN_genome:30728,GnomAD:0.1509;SGVEP=SLC19A2|-|NM_001319667|1|c.-4C>T|.|5'UTR GT:DP:AD:DP4 0/1:92:40,51:19,21,22,29 1 169483561 137969708 T C 618 PASS VARTYPE=1;BGN=0.00115949;ARL=205;DER=54;DEA=44;QR=37;QA=37;PBP=311;PBM=314;TYPE=SNP;DBXREF=dbSNP:rs6027,g1000:0.0453,esp5400:0.0449,ExAC:0.0610,PhyloP:1.8440,SIFT:0.9960,PolyPhen2:0.9230,PolyPhen2_HumDiv:0.9970,LRT:1.0000,MutationTaster:0.9990,GERP:4.9400,clinvar:rs6027,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:15774,GnomAD_AN_exome:245868,GnomAD_AC_genome:1759,GnomAD_AN_genome:30938,GnomAD:0.0633;SGVEP=F5|-|NM_000130|25|c.6665A>G|p.(Asp2222Gly)|missense GT:DP:AD:DP4 0/1:51:25,26:13,12,13,13 1 169483762 137969798 T G 292 off_target VARTYPE=1;BGN=0.0013919;ARL=245;DER=30;DEA=41;QR=38;QA=36;PBP=148;PBM=148;TYPE=SNP;DBXREF=dbSNP:rs2227243,g1000:0.0453,GnomAD_AC_genome:1753,GnomAD_AN_genome:30868,GnomAD:0.0568;SGVEP=F5|-|NM_000130|25|c.6529-65A>C|.|intronic GT:DP:AD:DP4 0/1:20:8,12:4,4,6,6 1 169487821 137970519 G T 612 off_target VARTYPE=1;BGN=0.00115949;ARL=229;DER=34;DEA=77;QR=37;QA=37;PBP=298;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs6013,g1000:0.0453,esp5400:0.0468,ExAC:0.0600,clinvar:rs6013,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:15648,GnomAD_AN_exome:245480,GnomAD_AC_genome:1811,GnomAD_AN_genome:30928,GnomAD:0.0632;SGVEP=F5|-|NM_000130|23|c.6194-20C>A|.|intronic GT:DP:AD:DP4 0/1:64:37,27:18,19,13,14 1 169494196 137974334 C T 476 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=194;DEA=30;QA=37;PBP=235;PBM=264;TYPE=SNP;DBXREF=dbSNP:rs2301515,g1000:0.5407,esp5400:0.3309,ExAC:0.4010,GnomAD_AC_exome:96370,GnomAD_AN_exome:219078,GnomAD_AC_genome:12386,GnomAD_AN_genome:30836,GnomAD:0.4352;SGVEP=F5|-|NM_000130|19|c.5717-50G>A|.|intronic GT:DP:AD:DP4 1/1:19:0,17:0,0,8,9 1 169498834 137975319 T C 1292 off_target VARTYPE=1;BGN=0.000965875;ARL=206;DEA=51;QA=38;PBP=662;PBM=632;TYPE=SNP;DBXREF=dbSNP:rs6009,g1000:0.9363,esp5400:0.9147,ExAC:0.9320,clinvar:rs6009,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:229864,GnomAD_AN_exome:245408,GnomAD_AC_genome:28708,GnomAD_AN_genome:30928,GnomAD:0.9357;SGVEP=F5|-|NM_000130|16|c.5419+12A>G|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,22,21 1 169498975 137975440 T C 1230 PASS VARTYPE=1;BGN=0.00115949;ARL=237;DEA=109;QA=37;PBP=616;PBM=616;TYPE=SNP;DBXREF=dbSNP:rs6030,g1000:0.3087,esp5400:0.2909,ExAC:0.3350,PhyloP:-0.9130,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.6000,MutationTaster:0.0000,GERP:-2.8600,clinvar:rs6030,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:84141,GnomAD_AN_exome:245672,GnomAD_AC_genome:8957,GnomAD_AN_genome:30900,GnomAD:0.3366;SGVEP=F5|-|NM_000130|16|c.5290A>G|p.(Met1764Val)|missense GT:DP:AD:DP4 1/1:42:0,42:0,0,21,21 1 169500210 137975895 T C 546 PASS VARTYPE=1;BGN=0.0013919;ARL=224;DER=77;DEA=70;QR=37;QA=36;PBP=276;PBM=278;TYPE=SNP;DBXREF=dbSNP:rs6010,g1000:0.0974,esp5400:0.0401,ExAC:0.0740,clinvar:rs6010,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:19231,GnomAD_AN_exome:245390,GnomAD_AC_genome:1429,GnomAD_AN_genome:30944,GnomAD:0.0748;SGVEP=F5|-|NM_000130|15|c.5022A>G|p.(Gly1674:)|synonymous GT:DP:AD:DP4 0/1:73:47,26:24,23,13,13 1 169509483 137977771 T G 461 off_target VARTYPE=1;BGN=0.00115949;ARL=218;DER=75;DEA=33;QR=36;QA=37;PBP=236;PBM=231;TYPE=SNP;DBXREF=dbSNP:rs9332609,g1000:0.0455,esp5400:0.0444,ExAC:0.0610,GnomAD_AC_exome:15776,GnomAD_AN_exome:241756,GnomAD_AC_genome:1759,GnomAD_AN_genome:30944,GnomAD:0.0643;SGVEP=F5|-|NM_000130|13|c.4796+49A>C|.|intronic GT:DP:AD:DP4 0/1:27:9,18:4,5,9,9 1 169510118 137978384 G A 974 PASS VARTYPE=1;BGN=0.00115949;ARL=219;DER=102;DEA=93;QR=35;QA=37;PBP=558;PBM=425;TYPE=SNP;DBXREF=dbSNP:rs9332608,g1000:0.0940,esp5400:0.0370,ExAC:0.0730,PhyloP:0.4690,SIFT:0.8630,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0510,LRT:0.9310,MutationTaster:0.0120,GERP:1.3800,clinvar:rs9332608,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:19039,GnomAD_AN_exome:245748,GnomAD_AC_genome:1343,GnomAD_AN_genome:30932,GnomAD:0.0737;SGVEP=F5|-|NM_000130|13|c.4210C>T|p.(Pro1404Ser)|missense GT:DP:AD:DP4 0/1:79:38,41:19,19,23,18 1 169510348 137978617 T C 1832 PASS VARTYPE=1;BGN=0.00167091;ARL=205;DER=102;DEA=94;QR=32;QA=35;PBP=894;PBM=951;TYPE=SNP;DBXREF=dbSNP:rs1800595,g1000:0.0455,esp5400:0.0462,ExAC:0.0610,PhyloP:0.2230,SIFT:0.9460,PolyPhen2:0.0240,PolyPhen2_HumDiv:0.1460,LRT:0.6420,MutationTaster:0.0000,GERP:2.1900,clinvar:rs1800595,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:13672,GnomAD_AN_exome:241444,GnomAD_AC_genome:1580,GnomAD_AN_genome:30430,GnomAD:0.0561;SGVEP=F5|-|NM_000130|13|c.3980A>G|p.(His1327Arg)|missense GT:DP:AD:DP4 0/1:150:68,82:35,33,40,42 1 169510380 137978662 G A 1109 PASS VARTYPE=1;BGN=0.00167091;ARL=208;DER=102;DEA=104;QR=35;QA=35;PBP=541;PBM=578;TYPE=SNP;DBXREF=dbSNP:rs9287090,g1000:0.2636,esp5400:0.2444,ExAC:0.2720,clinvar:rs9287090,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:41006,GnomAD_AN_exome:197774,GnomAD_AC_genome:5969,GnomAD_AN_genome:28894,GnomAD:0.2072;SGVEP=F5|-|NM_000130|13|c.3948C>T|p.(Leu1316:)|synonymous GT:DP:AD:DP4 0/1:137:83,54:39,44,26,28 1 169510524 137978781 A G 3204 PASS VARTYPE=1;BGN=0.00167091;ARL=202;DER=59;DEA=89;QR=11;QA=35;PBP=1634;PBM=1579;TYPE=SNP;DBXREF=dbSNP:rs1800594,g1000:0.3095,esp5400:0.2831,ExAC:0.3120,clinvar:rs1800594,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:83148,GnomAD_AN_exome:242586,GnomAD_AC_genome:8637,GnomAD_AN_genome:25592,GnomAD:0.3423;SGVEP=F5|-|NM_000130|13|c.3804T>C|p.(Ser1268:)|synonymous GT:DP:AD:DP4 1/1:116:0,116:0,0,59,57 1 169511555 137979474 T C 629 PASS VARTYPE=1;BGN=0.000965875;ARL=232;DER=101;DEA=108;QR=36;QA=38;PBP=276;PBM=362;TYPE=SNP;DBXREF=dbSNP:rs6032,g1000:0.2628,esp5400:0.2436,ExAC:0.2740,PhyloP:-1.3260,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.5580,MutationTaster:0.0000,GERP:-5.1400,clinvar:rs6032,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:68316,GnomAD_AN_exome:245776,GnomAD_AC_genome:7208,GnomAD_AN_genome:30876,GnomAD:0.2730;SGVEP=F5|-|NM_000130|13|c.2773A>G|p.(Lys925Glu)|missense GT:DP:AD:DP4 0/1:66:39,27:21,18,12,15 1 169511734 137979576 T C 583 PASS VARTYPE=1;BGN=0.000965875;ARL=239;DER=115;DEA=113;QR=37;QA=38;PBP=308;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs4525,g1000:0.2628,esp5400:0.2441,ExAC:0.2740,PhyloP:-0.4490,SIFT:0.5510,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.2320,MutationTaster:0.0000,GERP:-1.1200,clinvar:rs4525,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:68253,GnomAD_AN_exome:245548,GnomAD_AC_genome:7224,GnomAD_AN_genome:30924,GnomAD:0.2730;SGVEP=F5|-|NM_000130|13|c.2594A>G|p.(His865Arg)|missense GT:DP:AD:DP4 0/1:61:36,25:18,18,13,12 1 169511755 137979582 T C 653 PASS VARTYPE=1;BGN=0.000965875;ARL=243;DER=121;DEA=104;QR=37;QA=38;PBP=330;PBM=330;TYPE=SNP;DBXREF=dbSNP:rs4524,g1000:0.2668,esp5400:0.2439,ExAC:0.2770,PhyloP:-0.0970,SIFT:0.1450,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.6820,MutationTaster:0.0000,GERP:-1.7000,clinvar:rs4524,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:68957,GnomAD_AN_exome:245630,GnomAD_AC_genome:7232,GnomAD_AN_genome:30922,GnomAD:0.2755;SGVEP=F5|-|NM_000130|13|c.2573A>G|p.(Lys858Arg)|missense GT:DP:AD:DP4 0/1:68:40,28:20,20,14,14 1 169511878 137979644 T G 851 PASS VARTYPE=1;BGN=0.00115949;ARL=233;DER=102;DEA=97;QR=37;QA=37;PBP=428;PBM=431;TYPE=SNP;DBXREF=dbSNP:rs6018,g1000:0.0455,esp5400:0.0461,ExAC:0.0620,PhyloP:0.1110,SIFT:0.9960,PolyPhen2:0.0240,PolyPhen2_HumDiv:0.0680,LRT:0.5080,MutationTaster:0.1760,GERP:2.1500,clinvar:rs6018,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:16095,GnomAD_AN_exome:246012,GnomAD_AC_genome:1763,GnomAD_AN_genome:30928,GnomAD:0.0645;SGVEP=F5|-|NM_000130|13|c.2450A>C|p.(Asn817Thr)|missense GT:DP:AD:DP4 0/1:71:35,36:18,17,18,18 1 169512027 137979729 T C 842 PASS VARTYPE=1;BGN=0.00115949;ARL=239;DER=110;DEA=120;QR=37;QA=37;PBP=436;PBM=415;TYPE=SNP;DBXREF=dbSNP:rs6021,g1000:0.2628,esp5400:0.2439,ExAC:0.2740,clinvar:rs6021,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:68343,GnomAD_AN_exome:245916,GnomAD_AC_genome:7216,GnomAD_AN_genome:30918,GnomAD:0.2729;SGVEP=F5|-|NM_000130|13|c.2301A>G|p.(Ser767:)|synonymous GT:DP:AD:DP4 0/1:85:48,37:25,23,19,18 1 169512039 137979735 T C 1136 PASS VARTYPE=1;BGN=0.00115949;ARL=239;DER=121;DEA=114;QR=38;QA=37;PBP=585;PBM=561;TYPE=SNP;DBXREF=dbSNP:rs6024,g1000:0.0455,esp5400:0.0461,ExAC:0.0620,clinvar:rs6024,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:16088,GnomAD_AN_exome:245908,GnomAD_AC_genome:1765,GnomAD_AN_genome:30968,GnomAD:0.0645;SGVEP=F5|-|NM_000130|13|c.2289A>G|p.(Glu763:)|synonymous GT:DP:AD:DP4 0/1:84:37,47:19,18,24,23 1 169512093 137979772 A G 652 PASS VARTYPE=1;BGN=0.00115949;ARL=251;DER=108;DEA=114;QR=36;QA=37;PBP=345;PBM=315;TYPE=SNP;DBXREF=dbSNP:rs6017,g1000:0.2628,esp5400:0.2439,ExAC:0.2740,clinvar:rs6017,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:68340,GnomAD_AN_exome:245904,GnomAD_AC_genome:7223,GnomAD_AN_genome:30904,GnomAD:0.2730;SGVEP=F5|-|NM_000130|13|c.2235T>C|p.(Asn745:)|synonymous GT:DP:AD:DP4 0/1:71:42,29:20,22,15,14 1 169512120 137979787 G A 763 PASS VARTYPE=1;BGN=0.00115949;ARL=243;DER=111;DEA=122;QR=36;QA=37;PBP=412;PBM=359;TYPE=SNP;DBXREF=dbSNP:rs6016,g1000:0.2628,esp5400:0.2439,ExAC:0.2740,clinvar:rs6016,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:68316,GnomAD_AN_exome:245824,GnomAD_AC_genome:7222,GnomAD_AN_genome:30912,GnomAD:0.2730;SGVEP=F5|-|NM_000130|13|c.2208C>T|p.(Ile736:)|synonymous GT:DP:AD:DP4 0/1:83:49,34:24,25,18,16 1 169513436 137980098 C A 141 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=270;DER=38;DEA=27;QR=35;QA=37;PBP=71;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9287092,g1000:0.2566,GnomAD_AC_genome:7045,GnomAD_AN_genome:30886,GnomAD:0.2281;SGVEP=F5|-|NM_000130|12|c.1975+98G>T|.|intronic GT:DP:AD:DP4 0/1:14:8,6:5,3,3,3 1 169513583 137980156 G T 820 PASS VARTYPE=1;BGN=0.0013919;ARL=238;DER=106;DEA=107;QR=37;QA=36;PBP=424;PBM=404;TYPE=SNP;DBXREF=dbSNP:rs6037,g1000:0.0503,esp5400:0.0565,ExAC:0.0720,clinvar:rs6037,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:18593,GnomAD_AN_exome:245932,GnomAD_AC_genome:2095,GnomAD_AN_genome:30932,GnomAD:0.0747;SGVEP=F5|-|NM_000130|12|c.1926C>A|p.(Thr642:)|synonymous GT:DP:AD:DP4 0/1:63:28,35:15,13,18,17 1 169515726 137980578 C T 1444 PASS VARTYPE=1;BGN=0.00115949;ARL=205;DER=78;DEA=78;QR=37;QA=37;PBP=728;PBM=728;TYPE=SNP;DBXREF=dbSNP:rs6036,g1000:0.0509,esp5400:0.0574,ExAC:0.0720,clinvar:rs6036,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:18700,GnomAD_AN_exome:246144,GnomAD_AC_genome:2109,GnomAD_AN_genome:30960,GnomAD:0.0751;SGVEP=F5|-|NM_000130|11|c.1716G>A|p.(Glu572:)|synonymous GT:DP:AD:DP4 0/1:108:48,60:24,24,30,30 1 169519049 109943 T C 1292 PASS VARTYPE=1;BGN=0.000965875;ARL=239;DEA=60;QA=38;PBP=632;PBM=662;TYPE=SNP;DBXREF=dbSNP:rs6025,g1000:0.9940,esp5400:0.9781,ExAC:0.9780,PhyloP:1.4340,SIFT:0.0000,LRT:0.9970,MutationTaster:1.0000,GERP:5.7100,clinvar:rs6025,CLNSIG:drug_response,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:241170,GnomAD_AN_exome:246050,GnomAD_AC_genome:30445,GnomAD_AN_genome:30970,GnomAD:0.9805;SGVEP=F5|-|NM_000130|10|c.1601A>G|p.(Gln534Arg)|missense GT:DP:AD:DP4 1/1:43:0,43:0,0,21,22 1 169519894 137981461 G A 623 PASS VARTYPE=1;BGN=0.0013919;ARL=211;DER=73;DEA=67;QR=35;QA=36;PBP=341;PBM=290;TYPE=SNP;DBXREF=dbSNP:rs6015,g1000:0.0509,esp5400:0.0578,ExAC:0.0720,clinvar:rs6015,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:18615,GnomAD_AN_exome:246058,GnomAD_AC_genome:2114,GnomAD_AN_genome:30948,GnomAD:0.0748;SGVEP=F5|-|NM_000130|9|c.1380C>T|p.(Asn460:)|synonymous GT:DP:AD:DP4 0/1:62:34,28:17,17,15,13 1 169521853 137981949 A G 415 PASS VARTYPE=1;BGN=0.0013919;ARL=214;DER=96;DEA=72;QR=38;QA=36;PBP=211;PBM=211;TYPE=SNP;DBXREF=dbSNP:rs6033,g1000:0.0501,esp5400:0.0581,ExAC:0.0720,PhyloP:-1.9260,SIFT:0.4550,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0090,LRT:0.0560,MutationTaster:0.0010,GERP:-10.6000,clinvar:rs6033,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:18639,GnomAD_AN_exome:246158,GnomAD_AC_genome:2110,GnomAD_AN_genome:30916,GnomAD:0.0749;SGVEP=F5|-|NM_000130|8|c.1238T>C|p.(Met413Thr)|missense GT:DP:AD:DP4 0/1:60:40,20:20,20,10,10 1 169528580 137983680 C T 457 off_target VARTYPE=1;BGN=0.00115949;ARL=244;DER=33;DEA=45;QR=35;QA=37;PBP=231;PBM=231;TYPE=SNP;DBXREF=dbSNP:rs6012,g1000:0.4179,esp5400:0.3169,ExAC:0.2610,GnomAD_AC_exome:63423,GnomAD_AN_exome:244428,GnomAD_AC_genome:10500,GnomAD_AN_genome:30876,GnomAD:0.2685;SGVEP=F5|-|NM_000130|5|c.587-46G>A|.|intronic GT:DP:AD:DP4 0/1:28:10,18:5,5,9,9 1 169529826 137983953 C A 261 PASS VARTYPE=1;BGN=0.00115949;ARL=219;DER=71;DEA=92;QR=35;QA=37;PBP=120;PBM=147;TYPE=SNP;DBXREF=dbSNP:rs6022,g1000:0.4177,esp5400:0.3171,ExAC:0.2610,clinvar:rs6022,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:63839,GnomAD_AN_exome:246158,GnomAD_AC_genome:10468,GnomAD_AN_genome:30818,GnomAD:0.2683;SGVEP=F5|-|NM_000130|4|c.552G>T|p.(Ser184:)|synonymous GT:DP:AD:DP4 0/1:54:41,13:22,19,6,7 1 169529973 137984069 C T 354 PASS VARTYPE=1;BGN=0.00115949;ARL=220;DER=96;DEA=73;QR=36;QA=37;PBP=181;PBM=180;TYPE=SNP;DBXREF=dbSNP:rs6029,g1000:0.3988,esp5400:0.2938,ExAC:0.2560,clinvar:rs6029,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:62709,GnomAD_AN_exome:245998,GnomAD_AC_genome:9922,GnomAD_AN_genome:30836,GnomAD:0.2624;SGVEP=F5|-|NM_000130|4|c.405G>A|p.(Ala135:)|synonymous GT:DP:AD:DP4 0/1:79:61,18:30,31,9,9 1 169530070 137984137 A C 116 low_variant_fraction;off_target VARTYPE=1;BGN=0.00115949;ARL=251;DER=67;DEA=34;QR=37;QA=37;PBP=61;PBM=60;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7545236,g1000:0.4231,GnomAD_AC_genome:10586,GnomAD_AN_genome:30828,GnomAD:0.3434;SGVEP=F5|-|NM_000130|4|c.374-66T>G|.|intronic GT:DP:AD:DP4 0/1:33:27,6:13,14,3,3 1 169562904 137995140 C T 705 PASS VARTYPE=1;BGN=0.000965875;ARL=203;DER=95;DEA=100;QR=37;QA=38;PBP=357;PBM=357;TYPE=SNP;DBXREF=dbSNP:rs6128,g1000:0.3788,esp5400:0.2695,ExAC:0.2390,PhyloP:-0.8490,MutationTaster:0.0000,GERP:-4.4400,GnomAD_AC_exome:58689,GnomAD_AN_exome:245760,GnomAD_AC_genome:9213,GnomAD_AN_genome:30888,GnomAD:0.2454;SGVEP=SELP|-|NM_003005|14|c.2346G>A|p.(Thr782:)|synonymous GT:DP:AD:DP4 0/1:70:40,30:20,20,15,15 1 169564130 137995584 T G 708 off_target VARTYPE=1;BGN=0.00115949;ARL=225;DER=54;DEA=82;QR=37;QA=37;PBP=317;PBM=398;TYPE=SNP;DBXREF=dbSNP:rs1569471,g1000:0.2582,esp5400:0.3474,ExAC:0.1980,GnomAD_AC_exome:45787,GnomAD_AN_exome:241918,GnomAD_AC_genome:9145,GnomAD_AN_genome:30920,GnomAD:0.2013;SGVEP=SELP|-|NM_003005|13|c.2102-15A>C|.|intronic GT:DP:AD:DP4 0/1:51:22,29:11,11,13,16 1 169565346 109968 C A 537 PASS VARTYPE=1;BGN=0.000965875;ARL=216;DER=89;DEA=66;QR=35;QA=38;PBP=258;PBM=287;TYPE=SNP;DBXREF=dbSNP:rs6133,g1000:0.2190,esp5400:0.2697,ExAC:0.1270,PhyloP:1.0160,SIFT:0.9930,PolyPhen2:0.0270,PolyPhen2_HumDiv:0.0160,LRT:0.8400,MutationTaster:0.0000,GERP:3.2200,GnomAD_AC_exome:28940,GnomAD_AN_exome:245716,GnomAD_AC_genome:7068,GnomAD_AN_genome:30894,GnomAD:0.1302;SGVEP=SELP|-|NM_003005|12|c.1918G>T|p.(Val640Leu)|missense GT:DP:AD:DP4 0/1:56:33,23:17,16,11,12 1 169565393 137996064 C A 230 off_target VARTYPE=1;BGN=0.0013919;ARL=225;DER=56;DEA=55;QR=36;QA=36;PBP=106;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs3917811,g1000:0.2190,esp5400:0.2691,ExAC:0.1270,GnomAD_AC_exome:28710,GnomAD_AN_exome:243432,GnomAD_AC_genome:7056,GnomAD_AN_genome:30890,GnomAD:0.1304;SGVEP=SELP|-|NM_003005|12|c.1892-21G>T|.|intronic GT:DP:AD:DP4 0/1:34:23,11:11,12,5,6 1 169566308 137996403 G A 148 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=210;DER=83;DEA=103;QR=37;QA=38;PBP=77;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6132,g1000:0.2190,esp5400:0.2694,ExAC:0.1270,GnomAD_AC_exome:27064,GnomAD_AN_exome:242398,GnomAD_AC_genome:7056,GnomAD_AN_genome:30906,GnomAD:0.1248;SGVEP=SELP|-|NM_003005|11|c.1812C>T|p.(Asn604:)|synonymous GT:DP:AD:DP4 0/1:58:50,8:25,25,4,4 1 169566313 137996418 C T 146 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=207;DER=85;DEA=108;QR=38;QA=38;PBP=76;PBM=76;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6127,g1000:0.7508,esp5400:0.6484,ExAC:0.6390,PhyloP:-0.2620,SIFT:0.0930,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.7310,MutationTaster:0.0000,GERP:-1.7600,GnomAD_AC_exome:156556,GnomAD_AN_exome:243238,GnomAD_AC_genome:20974,GnomAD_AN_genome:30888,GnomAD:0.6476;SGVEP=SELP|-|NM_003005|11|c.1807G>A|p.(Asp603Asn)|missense GT:DP:AD:DP4 0/1:62:54,8:27,27,4,4 1 169566326 137996430 G A 235 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=202;DER=95;DEA=84;QR=36;QA=38;PBP=121;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs6135,g1000:0.2192,esp5400:0.2697,ExAC:0.1270,GnomAD_AC_exome:27092,GnomAD_AN_exome:242370,GnomAD_AC_genome:7073,GnomAD_AN_genome:30914,GnomAD:0.1250;SGVEP=SELP|-|NM_003005|11|c.1794C>T|p.(Cys598:)|synonymous GT:DP:AD:DP4 0/1:66:54,12:26,28,6,6 1 169580717 138000257 T C 807 off_target VARTYPE=1;BGN=0.000965875;ARL=234;DER=88;DEA=64;QR=37;QA=38;PBP=391;PBM=424;TYPE=SNP;DBXREF=dbSNP:rs3917731,g1000:0.1078,esp5400:0.2127,ExAC:0.2010,GnomAD_AC_exome:48946,GnomAD_AN_exome:244024,GnomAD_AC_genome:5873,GnomAD_AN_genome:30888,GnomAD:0.1994;SGVEP=SELP|-|NM_003005|7|c.1147+13A>G|.|intronic GT:DP:AD:DP4 0/1:65:32,33:17,15,16,17 1 169580885 138000396 C T 663 PASS VARTYPE=1;BGN=0.0013919;ARL=218;DER=88;DEA=85;QR=37;QA=36;PBP=322;PBM=349;TYPE=SNP;DBXREF=dbSNP:rs6131,g1000:0.2390,esp5400:0.2289,ExAC:0.2060,PhyloP:-1.1710,SIFT:0.5530,PolyPhen2:0.0120,PolyPhen2_HumDiv:0.0100,LRT:0.0250,MutationTaster:0.0000,GERP:-4.5300,GnomAD_AC_exome:48489,GnomAD_AN_exome:245556,GnomAD_AC_genome:7012,GnomAD_AN_genome:30906,GnomAD:0.2008;SGVEP=SELP|-|NM_003005|7|c.992G>A|p.(Ser331Asn)|missense GT:DP:AD:DP4 0/1:80:49,31:25,24,15,16 1 169580972 138000448 C CAT 752 off_target VARTYPE=1;BGN=0.000965875;ARL=257;DEA=82;QA=76;PBP=361;PBM=392;TYPE=INDEL;DBXREF=dbSNP:rs61535831,g1000:0.4081,GnomAD_AC_genome:14376,GnomAD_AN_genome:30782,GnomAD:0.4670;SGVEP=SELP|-|NM_003005|7|c.962-58_962-57insAT|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,12,13 1 169599254 138003844 T C 1959 off_target VARTYPE=1;BGN=0.00115949;ARL=219;DEA=71;QA=37;PBP=996;PBM=967;TYPE=SNP;DBXREF=dbSNP:rs732314,g1000:0.4686,esp5400:0.5266,GnomAD_AC_genome:16051,GnomAD_AN_genome:30898,GnomAD:0.5195;SGVEP=SELP|-|NM_003005|1|c.3+56A>G|.|intronic GT:DP:AD:DP4 1/1:67:0,67:0,0,34,33 1 169665632 138025137 T C 272 off_target VARTYPE=1;BGN=0.0013919;ARL=203;DER=69;DEA=32;QR=37;QA=36;PBP=151;PBM=127;TYPE=SNP;DBXREF=dbSNP:rs2223286,g1000:0.3349,esp5400:0.3879,ExAC:0.2240,GnomAD_AC_exome:46272,GnomAD_AN_exome:158150,GnomAD_AC_genome:11264,GnomAD_AN_genome:30878,GnomAD:0.3044;SGVEP=SELL|-|NM_000655|8|c.1139+44A>G|.|intronic GT:DP:AD:DP4 0/1:39:26,13:13,13,7,6 1 169676486 138027981 A G 398 PASS VARTYPE=1;BGN=0.0013919;ARL=214;DER=63;DEA=40;QR=37;QA=36;PBP=189;PBM=216;TYPE=SNP;DBXREF=dbSNP:rs1131498,g1000:0.1330,esp5400:0.2260,ExAC:0.2070,PhyloP:1.0640,SIFT:0.6160,PolyPhen2:0.0090,PolyPhen2_HumDiv:0.0750,LRT:0.9640,MutationTaster:0.9830,GERP:3.1600,GnomAD_AC_exome:50286,GnomAD_AN_exome:244314,GnomAD_AC_genome:6447,GnomAD_AN_genome:30852,GnomAD:0.2062;SGVEP=SELL|-|NM_000655|4|c.616T>C|p.(Phe206Leu)|missense GT:DP:AD:DP4 0/1:55:36,19:19,17,9,10 1 169677709 138028426 A G 792 PASS VARTYPE=1;BGN=0.0013919;ARL=218;DER=97;DEA=101;QR=37;QA=36;PBP=379;PBM=422;TYPE=SNP;DBXREF=dbSNP:rs1051091,g1000:0.3001,esp5400:0.2473,ExAC:0.2840,GnomAD_AC_exome:69996,GnomAD_AN_exome:245132,GnomAD_AC_genome:8019,GnomAD_AN_genome:30888,GnomAD:0.2826;SGVEP=SELL|-|NM_000655|3|c.360T>C|p.(Leu120:)|synonymous GT:DP:AD:DP4 0/1:107:69,38:33,36,18,20 1 169678024 138028611 T C 267 off_target VARTYPE=1;BGN=0.000965875;ARL=245;DER=41;DEA=50;QR=37;QA=38;PBP=124;PBM=148;TYPE=SNP;DBXREF=dbSNP:rs4987285,g1000:0.3584,GnomAD_AC_genome:8885,GnomAD_AN_genome:30862,GnomAD:0.2879;SGVEP=SELL|-|NM_000655|3|c.125-80A>G|.|intronic GT:DP:AD:DP4 0/1:24:13,11:6,7,5,6 1 169679553 138028868 C T 468 off_target VARTYPE=1;BGN=0.00115949;ARL=230;DER=48;DEA=65;QR=36;QA=37;PBP=251;PBM=223;TYPE=SNP;DBXREF=dbSNP:rs4987280,g1000:0.1002,esp5400:0.1916,ExAC:0.1290,GnomAD_AC_exome:30959,GnomAD_AN_exome:160024,GnomAD_AC_genome:5470,GnomAD_AN_genome:30880,GnomAD:0.1908;SGVEP=SELL|-|NM_000655|2|c.124+24G>A|.|intronic GT:DP:AD:DP4 0/1:33:14,19:7,7,10,9 1 169696033 138043226 A G 249 off_target VARTYPE=1;BGN=0.000965875;ARL=258;DER=37;DEA=48;QR=35;QA=38;PBP=127;PBM=127;TYPE=SNP;DBXREF=dbSNP:rs3917427,g1000:0.0551,GnomAD_AC_genome:2329,GnomAD_AN_genome:30924,GnomAD:0.0753;SGVEP=SELE|-|NM_000450|11|c.1646-86T>C|.|intronic GT:DP:AD:DP4 0/1:20:10,10:5,5,5,5 1 169696754 138043302 A T 310 off_target VARTYPE=1;BGN=0.00167091;ARL=254;DER=60;DEA=67;QR=36;QA=35;PBP=159;PBM=156;TYPE=SNP;DBXREF=dbSNP:rs3917425,g1000:0.0549,GnomAD_AC_genome:2330,GnomAD_AN_genome:30982,GnomAD:0.0752;SGVEP=SELE|-|NM_000450|10|c.1469-88T>A|.|intronic GT:DP:AD:DP4 0/1:29:15,14:7,8,7,7 1 169697076 138043355 A G 524 off_target VARTYPE=1;BGN=0.000965875;ARL=219;DER=95;DEA=69;QR=37;QA=38;PBP=252;PBM=279;TYPE=SNP;DBXREF=dbSNP:rs5367,g1000:0.0549,esp5400:0.0835,ExAC:0.0840,GnomAD_AC_exome:20298,GnomAD_AN_exome:243442,GnomAD_AC_genome:2326,GnomAD_AN_genome:30968,GnomAD:0.0824;SGVEP=SELE|-|NM_000450|9|c.1280-8T>C|.|intronic GT:DP:AD:DP4 0/1:39:18,21:9,9,10,11 1 169697166 138043379 T C 573 off_target VARTYPE=1;BGN=0.00115949;ARL=232;DER=85;DEA=46;QR=37;QA=37;PBP=303;PBM=277;TYPE=SNP;DBXREF=dbSNP:rs3917424,g1000:0.0549,esp5400:0.0830,ExAC:0.0840,GnomAD_AC_exome:18394,GnomAD_AN_exome:216726,GnomAD_AC_genome:2328,GnomAD_AN_genome:30968,GnomAD:0.0837;SGVEP=SELE|-|NM_000450|8|c.1279+33A>G|.|intronic GT:DP:AD:DP4 0/1:57:32,25:16,16,13,12 1 169698789 138043582 A G 583 PASS VARTYPE=1;BGN=0.00115949;ARL=220;DER=63;DEA=66;QR=36;QA=37;PBP=286;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs5363,g1000:0.0549,esp5400:0.0836,ExAC:0.0840,GnomAD_AC_exome:20450,GnomAD_AN_exome:245686,GnomAD_AC_genome:2329,GnomAD_AN_genome:30954,GnomAD:0.0823;SGVEP=SELE|-|NM_000450|6|c.741T>C|p.(Asn247:)|synonymous GT:DP:AD:DP4 0/1:78:51,27:24,27,13,14 1 169698825 138043586 T G 1696 off_target VARTYPE=1;BGN=0.00115949;ARL=220;DEA=43;QA=37;PBP=791;PBM=908;TYPE=SNP;DBXREF=dbSNP:rs1534904,g1000:0.8019,esp5400:0.7724,ExAC:0.7420,GnomAD_AC_exome:181003,GnomAD_AN_exome:244890,GnomAD_AC_genome:23270,GnomAD_AN_genome:30928,GnomAD:0.7406;SGVEP=SELE|-|NM_000450|6|c.716-11A>C|.|intronic GT:DP:AD:DP4 1/1:58:0,58:0,0,27,31 1 169700961 138043903 A G 698 off_target VARTYPE=1;BGN=0.000965875;ARL=218;DER=56;DEA=59;QR=37;QA=38;PBP=354;PBM=352;TYPE=SNP;DBXREF=dbSNP:rs5362,g1000:0.0549,esp5400:0.0836,ExAC:0.0840,GnomAD_AC_exome:20285,GnomAD_AN_exome:244822,GnomAD_AC_genome:2325,GnomAD_AN_genome:30932,GnomAD:0.0820;SGVEP=SELE|-|NM_000450|4|c.529+15T>C|.|intronic GT:DP:AD:DP4 0/1:73:43,30:21,22,15,15 1 169701060 138043935 T G 793 PASS VARTYPE=1;BGN=0.00115949;ARL=209;DER=78;DEA=76;QR=37;QA=37;PBP=390;PBM=413;TYPE=SNP;DBXREF=dbSNP:rs5361,g1000:0.0549,esp5400:0.0836,ExAC:0.0840,PhyloP:0.9390,SIFT:0.9980,PolyPhen2:0.9440,PolyPhen2_HumDiv:0.9990,LRT:1.0000,MutationTaster:1.0000,GERP:4.3700,GnomAD_AC_exome:20408,GnomAD_AN_exome:245630,GnomAD_AC_genome:2326,GnomAD_AN_genome:30960,GnomAD:0.0822;SGVEP=SELE|-|NM_000450|4|c.445A>C|p.(Ser149Arg)|missense GT:DP:AD:DP4 0/1:108:71,37:35,36,18,19 1 169701108 138043947 A G 452 off_target VARTYPE=1;BGN=0.0013919;ARL=227;DER=52;DEA=53;QR=37;QA=36;PBP=230;PBM=230;TYPE=SNP;DBXREF=dbSNP:rs3917410,g1000:0.0555,esp5400:0.0828,ExAC:0.0830,GnomAD_AC_exome:19751,GnomAD_AN_exome:238874,GnomAD_AC_genome:2322,GnomAD_AN_genome:30942,GnomAD:0.0818;SGVEP=SELE|-|NM_000450|4|c.422-25T>C|.|intronic GT:DP:AD:DP4 0/1:68:46,22:23,23,11,11 1 169701901 138044115 T C 900 PASS VARTYPE=1;BGN=0.00115949;ARL=215;DER=93;DEA=94;QR=37;QA=37;PBP=467;PBM=443;TYPE=SNP;DBXREF=dbSNP:rs1800016,g1000:0.0549,esp5400:0.0815,ExAC:0.0840,GnomAD_AC_exome:20394,GnomAD_AN_exome:245758,GnomAD_AC_genome:2310,GnomAD_AN_genome:30942,GnomAD:0.0821;SGVEP=SELE|-|NM_000450|3|c.276A>G|p.(Glu92:)|synonymous GT:DP:AD:DP4 0/1:108:67,41:34,33,21,20 1 169701904 138044117 T C 930 PASS VARTYPE=1;BGN=0.00115949;ARL=217;DER=93;DEA=92;QR=37;QA=37;PBP=471;PBM=469;TYPE=SNP;DBXREF=dbSNP:rs1800015,g1000:0.0549,esp5400:0.0812,ExAC:0.0840,GnomAD_AC_exome:20398,GnomAD_AN_exome:245766,GnomAD_AC_genome:2312,GnomAD_AN_genome:30946,GnomAD:0.0821;SGVEP=SELE|-|NM_000450|3|c.273A>G|p.(Thr91:)|synonymous GT:DP:AD:DP4 0/1:107:65,42:32,33,21,21 1 170501385 138214179 A C 10000 PASS VARTYPE=1;BGN=0.0013919;ARL=209;DEA=87;QA=36;PBP=1623;PBM=1822;TYPE=SNP;DBXREF=dbSNP:rs7531125,g1000:0.9275,esp5400:0.9340,ExAC:0.9800,GnomAD_AC_exome:242063,GnomAD_AN_exome:246272,GnomAD_AC_genome:29137,GnomAD_AN_genome:30938,GnomAD:0.9783;SGVEP=GORAB|+|NM_001146039|1|c.96A>C|p.(Gly32:)|synonymous GT:DP:AD:DP4 1/1:121:0,121:0,0,57,64 1 170501456 138214272 C T 541 off_target VARTYPE=1;BGN=0.0013919;ARL=229;DER=72;DEA=28;QR=35;QA=36;PBP=253;PBM=295;TYPE=SNP;DBXREF=dbSNP:rs11578119,g1000:0.1448,esp5400:0.2725,ExAC:0.2690,GnomAD_AC_exome:66862,GnomAD_AN_exome:245884,GnomAD_AC_genome:7873,GnomAD_AN_genome:30872,GnomAD:0.2700;SGVEP=GORAB|+|NM_001146039|1|c.136+31C>T|.|intronic GT:DP:AD:DP4 0/1:51:27,24:12,15,11,13 1 170501521 138214317 AC A 200 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=249;DER=20;DEA=52;QR=32;QA=35;PBP=104;PBM=99;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs112197426,g1000:0.1581,GnomAD_AC_genome:3600,GnomAD_AN_genome:30890,GnomAD:0.1165;SGVEP=GORAB|+|NM_001146039|1|c.136+97del|.|intronic GT:DP:AD:DP4 0/1:11:3,8:1,2,4,4 1 170511604 138216348 T C 550 off_target VARTYPE=1;BGN=0.00115949;ARL=220;DER=46;DEA=58;QR=37;QA=37;PBP=280;PBM=277;TYPE=SNP;DBXREF=dbSNP:rs7538037,g1000:0.3698,esp5400:0.2491,ExAC:0.3780,GnomAD_AC_exome:95342,GnomAD_AN_exome:245154,GnomAD_AC_genome:9311,GnomAD_AN_genome:30914,GnomAD:0.3791;SGVEP=GORAB|+|NM_001146039|3|c.495-28T>C|.|intronic GT:DP:AD:DP4 0/1:55:31,24:15,16,12,12 1 170521650 138217566 T G 319 PASS VARTYPE=1;BGN=0.00115949;ARL=235;DER=60;DEA=30;QR=38;QA=37;PBP=163;PBM=163;TYPE=SNP;DBXREF=dbSNP:rs7552922,g1000:0.1971,esp5400:0.1687,ExAC:0.1570,clinvar:rs7552922,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:36946,GnomAD_AN_exome:237702,GnomAD_AC_genome:4645,GnomAD_AN_genome:30952,GnomAD:0.1548;SGVEP=GORAB|+|NM_001320252|7|c.*47T>G|.|3'UTR GT:DP:AD:DP4 0/1:34:20,14:10,10,7,7 1 171061990 138337468 A G 223 off_target VARTYPE=1;BGN=0.00167091;ARL=233;DER=47;DEA=40;QR=37;QA=35;PBP=102;PBM=126;TYPE=SNP;DBXREF=dbSNP:rs2064074,g1000:0.4730,GnomAD_AC_genome:14846,GnomAD_AN_genome:30878,GnomAD:0.4808;SGVEP=FMO3|+|NM_001002294|2|c.132+59A>G|.|intronic GT:DP:AD:DP4 0/1:33:22,11:11,11,5,6 1 171072862 138339808 G T 174 off_target VARTYPE=1;BGN=0.00115949;ARL=225;DER=45;DEA=54;QR=36;QA=37;PBP=89;PBM=90;SP=0;TYPE=SNP;DBXREF=dbSNP:rs28363536,g1000:0.0972,GnomAD_AC_genome:5138,GnomAD_AN_genome:30906,GnomAD:0.1662;SGVEP=FMO3|+|NM_001002294|3|c.133-64G>T|.|intronic GT:DP:AD:DP4 0/1:25:17,8:9,8,4,4 1 171076966 110069 G A 587 PASS VARTYPE=1;BGN=0.00115949;ARL=202;DER=58;DEA=73;QR=37;QA=37;PBP=298;PBM=296;TYPE=SNP;DBXREF=dbSNP:rs2266782,g1000:0.3478,esp5400:0.4288,ExAC:0.3830,PhyloP:2.1300,SIFT:0.5860,PolyPhen2:0.1640,PolyPhen2_HumDiv:0.4810,LRT:0.9640,MutationTaster:0.0080,GERP:3.7800,clinvar:rs2266782,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:92170,GnomAD_AN_exome:245826,GnomAD_AC_genome:13120,GnomAD_AN_genome:30898,GnomAD:0.3805;SGVEP=FMO3|+|NM_001002294|4|c.472G>A|p.(Glu158Lys)|missense GT:DP:AD:DP4 0/1:63:37,26:18,19,13,13 1 171077165 138340300 G A 562 off_target VARTYPE=1;BGN=0.0013919;ARL=235;DER=29;DEA=44;QR=36;QA=36;PBP=281;PBM=288;TYPE=SNP;DBXREF=dbSNP:rs2066529,g1000:0.0976,GnomAD_AC_genome:5147,GnomAD_AN_genome:30928,GnomAD:0.1664;SGVEP=FMO3|+|NM_001002294|5|c.485-55G>A|.|intronic GT:DP:AD:DP4 0/1:44:20,24:11,9,12,12 1 171077198 138340304 G A 889 off_target VARTYPE=1;BGN=0.000965875;ARL=221;DER=43;DEA=60;QR=36;QA=38;PBP=445;PBM=452;TYPE=SNP;DBXREF=dbSNP:rs1920149,g1000:0.5385,esp5400:0.5495,ExAC:0.5050,clinvar:rs1920149,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:122987,GnomAD_AN_exome:245628,GnomAD_AC_genome:16836,GnomAD_AN_genome:30894,GnomAD:0.5056;SGVEP=FMO3|+|NM_001002294|5|c.485-22G>A|.|intronic GT:DP:AD:DP4 0/1:68:32,36:17,15,18,18 1 171083174 138340721 C T 376 PASS VARTYPE=1;BGN=0.000965875;ARL=218;DER=80;DEA=70;QR=37;QA=38;PBP=190;PBM=193;TYPE=SNP;DBXREF=dbSNP:rs909530,g1000:0.3337,esp5400:0.3109,ExAC:0.2880,clinvar:rs909530,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:69785,GnomAD_AN_exome:244052,GnomAD_AC_genome:10012,GnomAD_AN_genome:30918,GnomAD:0.2902;SGVEP=FMO3|+|NM_001002294|7|c.855C>T|p.(Asn285:)|synonymous GT:DP:AD:DP4 0/1:72:54,18:28,26,9,9 1 171083242 110093 A G 738 PASS VARTYPE=1;BGN=0.000965875;ARL=220;DER=106;DEA=77;QR=36;QA=38;PBP=399;PBM=349;TYPE=SNP;DBXREF=dbSNP:rs2266780,g1000:0.0915,esp5400:0.1372,ExAC:0.1530,PhyloP:0.7280,SIFT:0.9270,PolyPhen2:0.9940,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:3.5800,clinvar:rs2266780,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:37122,GnomAD_AN_exome:245818,GnomAD_AC_genome:4994,GnomAD_AN_genome:30936,GnomAD:0.1522;SGVEP=FMO3|+|NM_001002294|7|c.923A>G|p.(Glu308Gly)|missense GT:DP:AD:DP4 0/1:110:76,34:38,38,18,16 1 171083537 138340804 T C 292 off_target VARTYPE=1;BGN=0.00115949;ARL=238;DER=42;DEA=61;QR=35;QA=37;PBP=137;PBM=160;TYPE=SNP;DBXREF=dbSNP:rs909531,g1000:0.1933,esp5400:0.2421,ExAC:0.1740,clinvar:rs909531,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:37921,GnomAD_AN_exome:212414,GnomAD_AC_genome:7823,GnomAD_AN_genome:30904,GnomAD:0.1880;SGVEP=FMO3|+|NM_001002294|7|c.1183+35T>C|.|intronic GT:DP:AD:DP4 0/1:34:21,13:10,11,6,7 1 171300959 138385518 T C 544 off_target VARTYPE=1;BGN=0.0013919;ARL=239;DER=72;DEA=27;QR=35;QA=36;PBP=273;PBM=278;TYPE=SNP;DBXREF=dbSNP:rs2294482,g1000:0.2845,esp5400:0.2039,ExAC:0.2660,GnomAD_AC_exome:66042,GnomAD_AN_exome:241996,GnomAD_AC_genome:6683,GnomAD_AN_genome:30766,GnomAD:0.2666;SGVEP=FMO4|+|NM_002022|6|c.627+38T>C|.|intronic GT:DP:AD:DP4 0/1:50:26,24:14,12,12,12 1 171302094 138385853 A C 146 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=246;DER=67;DEA=40;QR=38;QA=37;PBP=75;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4140632,g1000:0.5877,esp5400:0.5654,ExAC:0.4880,GnomAD_AC_exome:94044,GnomAD_AN_exome:182074,GnomAD_AC_genome:16238,GnomAD_AN_genome:30888,GnomAD:0.5178;SGVEP=FMO4|+|NM_002022|7|c.827+47A>C|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 1 171303925 138386317 C T 446 off_target VARTYPE=1;BGN=0.00115949;ARL=215;DER=43;DEA=34;QR=35;QA=37;PBP=226;PBM=226;TYPE=SNP;DBXREF=dbSNP:rs3820170,g1000:0.5417,esp5400:0.5002,ExAC:0.4680,GnomAD_AC_exome:79539,GnomAD_AN_exome:169532,GnomAD_AC_genome:15211,GnomAD_AN_genome:30908,GnomAD:0.4727;SGVEP=FMO4|+|NM_002022|8|c.1180+23C>T|.|intronic GT:DP:AD:DP4 0/1:52:32,20:16,16,10,10 1 171311003 138387807 A C 371 off_target VARTYPE=1;BGN=0.00115949;ARL=246;DER=81;DEA=52;QR=36;QA=37;PBP=176;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs1042772,g1000:0.5755,esp5400:0.5516,ExAC:0.5080,GnomAD_AC_exome:112994,GnomAD_AN_exome:223606,GnomAD_AC_genome:16453,GnomAD_AN_genome:30862,GnomAD:0.5087;SGVEP=FMO4|+|NM_002022|10|c.*25A>C|.|3'UTR GT:DP:AD:DP4 0/1:26:11,15:5,6,7,8 1 171607702 138455278 C T 703 off_target VARTYPE=1;BGN=0.00115949;ARL=242;DEA=45;QA=37;PBP=381;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs2032555,g1000:0.7845,esp5400:0.7613,ExAC:0.7290,GnomAD_AC_exome:177707,GnomAD_AN_exome:246152,GnomAD_AC_genome:23384,GnomAD_AN_genome:30958,GnomAD:0.7257;SGVEP=MYOC|-|NM_000261|2|c.730+35G>A|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,13,11 1 172501643 138607922 T C 1310 PASS VARTYPE=1;BGN=0.00115949;ARL=225;DER=73;DEA=66;QR=36;QA=37;PBP=696;PBM=626;TYPE=SNP;DBXREF=dbSNP:rs2239816,g1000:0.2498,esp5400:0.2360,ExAC:0.2510,PhyloP:-0.3450,SIFT:1.0000,LRT:0.1880,MutationTaster:0.0000,GERP:-1.3000,GnomAD_AC_exome:59611,GnomAD_AN_exome:241788,GnomAD_AC_genome:6461,GnomAD_AN_genome:30928,GnomAD:0.2423;SGVEP=SUCO|+|NM_016227|1|c.31T>C|p.(Ser11Pro)|missense GT:DP:AD:DP4 0/1:146:87,59:45,42,31,28 1 172502041 138608272 A G 685 off_target VARTYPE=1;BGN=0.0013919;ARL=249;DEA=47;QA=36;PBP=343;PBM=343;TYPE=SNP;DBXREF=dbSNP:rs10798043,g1000:1.0000,GnomAD_AC_genome:30939,GnomAD_AN_genome:30940,GnomAD:1.0000;SGVEP=SUCO|+|NM_016227|1|c.326+103A>G|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 1 172502340 138608353 T C 1449 PASS VARTYPE=1;BGN=0.0013919;ARL=216;DER=58;DEA=69;QR=34;QA=36;PBP=795;PBM=666;TYPE=SNP;DBXREF=dbSNP:rs2285143,g1000:0.3636,esp5400:0.2328,ExAC:0.2560,PhyloP:-0.8080,SIFT:0.6150,LRT:0.6430,MutationTaster:1.0000,GERP:-3.2400,GnomAD_AC_exome:29982,GnomAD_AN_exome:110902,GnomAD_AC_genome:9585,GnomAD_AN_genome:30762,GnomAD:0.2793;SGVEP=SUCO|+|NM_016227|2|c.350T>C|p.(Leu117Pro)|missense GT:DP:AD:DP4 0/1:148:82,66:45,37,36,30 1 172502479 138608422 T C 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=222;DEA=107;QA=37;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs2285144,g1000:0.5895,esp5400:0.6254,ExAC:0.4730,GnomAD_AC_exome:85020,GnomAD_AN_exome:150206,GnomAD_AC_genome:18579,GnomAD_AN_genome:30830,GnomAD:0.5723;SGVEP=SUCO|+|NM_016227|2|c.489T>C|p.(Ile163:)|synonymous GT:DP:AD:DP4 1/1:234:0,234:0,0,117,117 1 172502727 138608585 TA T 1576 off_target VARTYPE=1;BGN=0.00115949;ARL=224;DER=50;DEA=63;QR=36;QA=37;PBP=774;PBM=814;TYPE=INDEL;DBXREF=dbSNP:rs55696309,g1000:0.2546,GnomAD_AC_genome:6580,GnomAD_AN_genome:30874,GnomAD:0.2131;SGVEP=SUCO|+|NM_001282750|1|c.62+91del|.|intronic GT:DP:AD:DP4 0/1:122:56,66:26,30,32,34 1 172522602 138612419 G A 243 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=285;DER=17;DEA=46;QR=38;QA=35;PBP=126;PBM=121;TYPE=SNP;DBXREF=dbSNP:rs1159378,g1000:0.2947,GnomAD_AC_genome:7448,GnomAD_AN_genome:30882,GnomAD:0.2412;SGVEP=SUCO|+|NM_001282750|2|c.177+1836G>A|.|intronic GT:DP:AD:DP4 0/1:15:5,10:2,3,5,5 1 172547465 138618081 A G 326 PASS VARTYPE=1;BGN=0.00115949;ARL=206;DER=98;DEA=55;QR=38;QA=37;PBP=178;PBM=155;TYPE=SNP;DBXREF=dbSNP:rs2285664,g1000:0.2542,esp5400:0.2405,ExAC:0.2430,GnomAD_AC_exome:58711,GnomAD_AN_exome:245702,GnomAD_AC_genome:6347,GnomAD_AN_genome:30850,GnomAD:0.2352;SGVEP=SUCO|+|NM_001282750|13|c.1257A>G|p.(Glu419:)|synonymous GT:DP:AD:DP4 0/1:44:29,15:15,14,8,7 1 172634734 138640099 T C 932 off_target VARTYPE=1;BGN=0.000965875;ARL=244;DEA=61;QA=38;PBP=512;PBM=422;TYPE=SNP;DBXREF=dbSNP:rs2639653,g1000:0.9958,esp5400:0.9862,ExAC:0.9910,GnomAD_AC_exome:238644,GnomAD_AN_exome:240778,GnomAD_AC_genome:30681,GnomAD_AN_genome:30980,GnomAD:0.9910;SGVEP=FASLG|+|NM_000639|4|c.452-28T>C|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,17,14 1 173797451 110271 T C 275 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=209;DER=12;DEA=59;QR=37;QA=37;PBP=168;PBM=110;TYPE=SNP;DBXREF=dbSNP:rs55878143,g1000:0.0010,esp5400:0.0929,ExAC:0.2220,clinvar:rs55878143,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:49962,GnomAD_AN_exome:183490,GnomAD_AC_genome:6266,GnomAD_AN_genome:28678,GnomAD:0.2650;SGVEP=DARS2|+|NM_018122|3|c.228-20T>C|.|intronic GT:DP:AD:DP4 1/1:12:2,10:1,1,6,4 1 173799806 138821942 C T 503 PASS VARTYPE=1;BGN=0.000965875;ARL=218;DER=63;DEA=63;QR=36;QA=38;PBP=242;PBM=269;TYPE=SNP;DBXREF=dbSNP:rs781148189,ExAC:0.0000,clinvar:rs781148189,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:6,GnomAD_AN_exome:246256,GnomAD:0.0000;SGVEP=DARS2|+|NM_018122|4|c.303C>T|p.(Ala101:)|synonymous GT:DP:AD:DP4 0/1:74:51,23:26,25,11,12 1 173802433 138822168 GAAAA GAAA 199 low_coverage;off_target VARTYPE=1;BGN=0.0219187;ARL=275;DEA=84;QA=38;HL=4;PBP=100;PBM=100;TYPE=INDEL;DBXREF=dbSNP:rs398074426,g1000:0.2121,GnomAD_AC_genome:6907,GnomAD_AN_genome:30872,GnomAD:0.2237;SGVEP=DARS2|+|NM_018122|6|c.493-77del|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 173825692 138825693 T G 257 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=240;DER=50;DEA=18;QR=11;QA=36;PBP=143;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs2295366,g1000:0.3423,GnomAD_AC_genome:9597,GnomAD_AN_genome:30934,GnomAD:0.3102;SGVEP=DARS2|+|NM_018122|16|c.1675-112T>G|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,5,4 1 173876561 138834116 C G 1171 off_target VARTYPE=1;BGN=0.00115949;ARL=226;DEA=65;QA=37;PBP=586;PBM=586;TYPE=SNP;DBXREF=dbSNP:rs677,g1000:0.1164,esp5400:0.0856,ExAC:0.1250,GnomAD_AC_exome:30679,GnomAD_AN_exome:246206,GnomAD_AC_genome:2962,GnomAD_AN_genome:30936,GnomAD:0.1214;SGVEP=SERPINC1|-|NM_000488|6|c.1218+27G>C|.|intronic GT:DP:AD:DP4 1/1:40:0,40:0,0,20,20 1 173878832 138834407 T C 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=228;DEA=105;QA=37;PBP=1696;PBM=1755;TYPE=SNP;DBXREF=dbSNP:rs5878,g1000:0.5357,esp5400:0.4915,ExAC:0.4030,clinvar:rs5878,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:96484,GnomAD_AN_exome:246116,GnomAD_AC_genome:14579,GnomAD_AN_genome:30906,GnomAD:0.4009;SGVEP=SERPINC1|-|NM_000488|5|c.1011A>G|p.(Gln337:)|synonymous GT:DP:AD:DP4 1/1:118:0,118:0,0,58,60 1 173878862 138834417 T C 3120 PASS VARTYPE=1;BGN=0.00115949;ARL=231;DEA=111;QA=37;PBP=1551;PBM=1580;TYPE=SNP;DBXREF=dbSNP:rs5877,g1000:0.5453,esp5400:0.4864,ExAC:0.4080,clinvar:rs5877,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:98212,GnomAD_AN_exome:246110,GnomAD_AC_genome:14502,GnomAD_AN_genome:30936,GnomAD:0.4068;SGVEP=SERPINC1|-|NM_000488|5|c.981A>G|p.(Val327:)|synonymous GT:DP:AD:DP4 1/1:107:0,107:0,0,53,54 1 173907812 138837805 C T 457 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=260;DEA=40;QA=36;PBP=257;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs6703547,g1000:0.3327,esp5400:0.3154,ExAC:0.1820,GnomAD_AC_exome:34904,GnomAD_AN_exome:200694,GnomAD_AC_genome:8754,GnomAD_AN_genome:30902,GnomAD:0.1885;SGVEP=RC3H1|-|NM_001300850|19|c.*47G>A|.|3'UTR GT:DP:AD:DP4 1/1:16:0,16:0,0,9,7 1 173950205 138843565 T C 485 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=246;DEA=29;QA=36;PBP=200;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs7530661,g1000:0.3337,GnomAD_AC_genome:8747,GnomAD_AN_genome:30938,GnomAD:0.2827;SGVEP=RC3H1|-|NM_001300850|5|c.769-58A>G|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,7,10 1 173952539 138843829 T A 1492 off_target VARTYPE=1;BGN=0.00115949;ARL=217;DEA=45;QA=37;PBP=762;PBM=733;TYPE=SNP;DBXREF=dbSNP:rs6686083,g1000:0.4874,esp5400:0.4272,ExAC:0.3220,GnomAD_AC_exome:75594,GnomAD_AN_exome:245376,GnomAD_AC_genome:12678,GnomAD_AN_genome:30898,GnomAD:0.3195;SGVEP=RC3H1|-|NM_001300850|3|c.592+17A>T|.|intronic GT:DP:AD:DP4 1/1:51:0,51:0,0,26,25 1 173952836 138843905 A G 1171 off_target VARTYPE=1;BGN=0.00115949;ARL=245;DEA=43;QA=37;PBP=557;PBM=616;TYPE=SNP;DBXREF=dbSNP:rs61826774,g1000:0.1687,esp5400:0.1383,ExAC:0.1360,GnomAD_AC_exome:32252,GnomAD_AN_exome:240684,GnomAD_AC_genome:4274,GnomAD_AN_genome:30962,GnomAD:0.1345;SGVEP=RC3H1|-|NM_001300850|3|c.353-41T>C|.|intronic GT:DP:AD:DP4 1/1:40:0,40:0,0,19,21 1 173953860 138844049 G C 514 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=242;DEA=26;QA=36;PBP=257;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs60551050,g1000:0.1687,GnomAD_AC_genome:4261,GnomAD_AN_genome:30898,GnomAD:0.1379;SGVEP=RC3H1|-|NM_001300850|2|c.232-103C>G|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 1 173961807 138844973 A AAC 173 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=231;DER=69;DEA=48;QR=27;QA=63;PBP=100;PBM=77;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs770130592,GnomAD_AC_genome:5053,GnomAD_AN_genome:27954,GnomAD:0.1808;SGVEP=RC3H1|-|NM_001300850|1|c.231+84_231+85dup|.|intronic GT:DP:AD:DP4 0/1:15:5,7:3,2,4,3 1 175292672 139075310 A T 324 off_target VARTYPE=1;BGN=0.00115949;ARL=247;DER=64;DEA=36;QR=36;QA=37;PBP=165;PBM=165;TYPE=SNP;DBXREF=dbSNP:rs34842046,g1000:0.0479,GnomAD_AC_genome:1294,GnomAD_AN_genome:30934,GnomAD:0.0418;SGVEP=TNR|-|NM_001328635|23|c.2959-60T>A|.|intronic GT:DP:AD:DP4 0/1:32:18,14:9,9,7,7 1 175293424 139075336 T C 371 off_target VARTYPE=1;BGN=0.00115949;ARL=260;DER=32;DEA=50;QR=36;QA=37;PBP=200;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs2213635,g1000:0.7662,GnomAD_AC_genome:23599,GnomAD_AN_genome:30928,GnomAD:0.7630;SGVEP=TNR|-|NM_001328635|22|c.2958+68A>G|.|intronic GT:DP:AD:DP4 0/1:26:11,15:6,5,8,7 1 175299301 139075660 T C 1551 PASS VARTYPE=1;BGN=0.000965875;ARL=209;DER=95;DEA=95;QR=37;QA=38;PBP=742;PBM=822;TYPE=SNP;DBXREF=dbSNP:rs2027867,g1000:0.7660,esp5400:0.7518,ExAC:0.7450,GnomAD_AC_exome:183703,GnomAD_AN_exome:245298,GnomAD_AC_genome:23528,GnomAD_AN_genome:30898,GnomAD:0.7503;SGVEP=TNR|-|NM_001328635|21|c.2703A>G|p.(Gln901:)|synonymous GT:DP:AD:DP4 0/1:137:72,65:36,36,31,34 1 175323446 139077725 A G 703 off_target VARTYPE=1;BGN=0.00115949;ARL=238;DEA=35;QA=37;PBP=352;PBM=352;TYPE=SNP;DBXREF=dbSNP:rs2301432,g1000:0.7482,GnomAD_AC_genome:23599,GnomAD_AN_genome:30904,GnomAD:0.7636;SGVEP=TNR|-|NM_001328635|18|c.2383+81T>C|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 1 175324651 139078001 A G 807 PASS VARTYPE=1;BGN=0.000965875;ARL=216;DER=77;DEA=62;QR=36;QA=38;PBP=394;PBM=421;TYPE=SNP;DBXREF=dbSNP:rs2228359,g1000:0.6657,esp5400:0.6381,ExAC:0.6890,GnomAD_AC_exome:170988,GnomAD_AN_exome:245556,GnomAD_AC_genome:20348,GnomAD_AN_genome:30898,GnomAD:0.6921;SGVEP=TNR|-|NM_001328635|17|c.2238T>C|p.(Asp746:)|synonymous GT:DP:AD:DP4 0/1:65:32,33:16,16,16,17 1 175336530 139081859 T C 505 off_target VARTYPE=1;BGN=0.00115949;ARL=238;DER=55;DEA=35;QR=38;QA=37;PBP=241;PBM=269;TYPE=SNP;DBXREF=dbSNP:rs6697701,g1000:0.6857,GnomAD_AC_genome:20916,GnomAD_AN_genome:30896,GnomAD:0.6770;SGVEP=TNR|-|NM_001328635|10|c.965-97A>G|.|intronic GT:DP:AD:DP4 0/1:25:6,19:3,3,9,10 1 175348723 139084016 C T 2366 PASS VARTYPE=1;BGN=0.00115949;ARL=232;DEA=87;QA=37;PBP=1259;PBM=1113;TYPE=SNP;DBXREF=dbSNP:rs859427,g1000:0.6963,esp5400:0.6606,ExAC:0.6730,PhyloP:0.2710,SIFT:0.0000,PolyPhen2:0.0090,PolyPhen2_HumDiv:0.0000,LRT:0.9990,MutationTaster:0.0160,GERP:2.8300,GnomAD_AC_exome:165901,GnomAD_AN_exome:245942,GnomAD_AC_genome:20571,GnomAD_AN_genome:30852,GnomAD:0.6737;SGVEP=TNR|-|NM_001328635|9|c.929G>A|p.(Arg310Lys)|missense GT:DP:AD:DP4 1/1:81:0,81:0,0,43,38 1 175355128 139085071 C G 427 off_target VARTYPE=1;BGN=0.000965875;ARL=248;DER=63;DEA=39;QR=37;QA=38;PBP=210;PBM=224;TYPE=SNP;DBXREF=dbSNP:rs859436,g1000:0.6522,esp5400:0.6065,ExAC:0.6220,GnomAD_AC_exome:117828,GnomAD_AN_exome:186616,GnomAD_AC_genome:19260,GnomAD_AN_genome:30874,GnomAD:0.6303;SGVEP=TNR|-|NM_001328635|8|c.778+40G>C|.|intronic GT:DP:AD:DP4 0/1:42:24,18:15,9,9,9 1 175355152 139085094 C T 592 off_target VARTYPE=1;BGN=0.000965875;ARL=247;DER=70;DEA=60;QR=36;QA=38;PBP=340;PBM=260;TYPE=SNP;DBXREF=dbSNP:rs72723450,g1000:0.2047,esp5400:0.1887,ExAC:0.2070,GnomAD_AC_exome:43209,GnomAD_AN_exome:207064,GnomAD_AC_genome:5637,GnomAD_AN_genome:30918,GnomAD:0.2053;SGVEP=TNR|-|NM_001328635|8|c.778+16G>A|.|intronic GT:DP:AD:DP4 0/1:57:32,25:16,16,14,11 1 175355391 139085305 A G 2395 PASS VARTYPE=1;BGN=0.00115949;ARL=230;DER=53;DEA=63;QR=11;QA=37;PBP=1142;PBM=1259;TYPE=SNP;DBXREF=dbSNP:rs859437,g1000:0.8329,esp5400:0.7967,ExAC:0.8120,GnomAD_AC_exome:197162,GnomAD_AN_exome:242444,GnomAD_AC_genome:25062,GnomAD_AN_genome:30916,GnomAD:0.8129;SGVEP=TNR|-|NM_001328635|8|c.555T>C|p.(Thr185:)|synonymous GT:DP:AD:DP4 1/1:82:0,82:0,0,39,43 1 175365663 139086904 G A 1205 off_target VARTYPE=1;BGN=0.00115949;ARL=203;DER=40;DEA=42;QR=36;QA=37;PBP=677;PBM=538;TYPE=SNP;DBXREF=dbSNP:rs859446,g1000:0.5042,esp5400:0.4670,ExAC:0.4660,GnomAD_AC_exome:115077,GnomAD_AN_exome:244142,GnomAD_AC_genome:14947,GnomAD_AN_genome:30880,GnomAD:0.4728;SGVEP=TNR|-|NM_001328635|5|c.241+17C>T|.|intronic GT:DP:AD:DP4 0/1:82:33,49:16,17,27,22 1 175375635 139088954 G A 1218 PASS VARTYPE=1;BGN=0.0013919;ARL=229;DER=106;DEA=114;QR=37;QA=36;PBP=620;PBM=609;TYPE=SNP;DBXREF=dbSNP:rs2239818,g1000:0.0493,esp5400:0.0583,ExAC:0.0640,GnomAD_AC_exome:15961,GnomAD_AN_exome:245962,GnomAD_AC_genome:1449,GnomAD_AN_genome:30960,GnomAD:0.0629;SGVEP=TNR|-|NM_003285|3|c.216C>T|p.(Asn72:)|synonymous GT:DP:AD:DP4 0/1:110:56,54:26,30,27,27 1 175375683 139088961 T C 2917 PASS VARTYPE=1;BGN=0.00115949;ARL=229;DEA=114;QA=37;PBP=1434;PBM=1492;TYPE=SNP;DBXREF=dbSNP:rs859399,g1000:0.7268,esp5400:0.6807,ExAC:0.6760,GnomAD_AC_exome:167030,GnomAD_AN_exome:246242,GnomAD_AC_genome:21183,GnomAD_AN_genome:30896,GnomAD:0.6791;SGVEP=TNR|-|NM_003285|3|c.168A>G|p.(Thr56:)|synonymous GT:DP:AD:DP4 1/1:100:0,100:0,0,49,51 1 175375802 139088998 T C 2511 PASS VARTYPE=1;BGN=0.00115949;ARL=218;DEA=76;QA=37;PBP=1259;PBM=1259;TYPE=SNP;DBXREF=dbSNP:rs859398,g1000:0.7220,esp5400:0.6750,ExAC:0.6740,PhyloP:0.7270,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9970,MutationTaster:0.0000,GERP:3.6900,GnomAD_AC_exome:166753,GnomAD_AN_exome:246224,GnomAD_AC_genome:21062,GnomAD_AN_genome:30922,GnomAD:0.6777;SGVEP=TNR|-|NM_003285|3|c.49A>G|p.(Ile17Val)|missense GT:DP:AD:DP4 1/1:86:0,86:0,0,43,43 1 179087934 139717912 T C 521 off_target VARTYPE=1;BGN=0.00115949;ARL=253;DER=45;DEA=72;QR=36;QA=37;PBP=269;PBM=259;TYPE=SNP;DBXREF=dbSNP:rs2171959,g1000:0.6292,esp5400:0.6523,ExAC:0.6240,GnomAD_AC_exome:149817,GnomAD_AN_exome:242156,GnomAD_AC_genome:19837,GnomAD_AN_genome:30910,GnomAD:0.6213;SGVEP=ABL2|-|NM_001136000|7|c.1001-35A>G|.|intronic GT:DP:AD:DP4 0/1:28:8,20:3,5,10,10 1 179198653 139732849 T C 351 low_coverage;off_target VARTYPE=1;BGN=0.00200585;ARL=258;DEA=50;QA=34;PBP=108;PBM=243;TYPE=SNP;DBXREF=dbSNP:rs2306941,g1000:0.4780,GnomAD_AC_genome:14741,GnomAD_AN_genome:30320,GnomAD:0.4862;SGVEP=ABL2|-|NM_001136001|1|c.-121A>G|.|5'UTR GT:DP:AD:DP4 1/1:13:0,13:0,0,4,9 1 179520254 139783275 C G 557 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=242;DEA=42;QA=37;PBP=293;PBM=264;TYPE=SNP;DBXREF=dbSNP:rs1410591,g1000:0.5879,clinvar:rs1410591,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:18885,GnomAD_AN_genome:30876,GnomAD:0.6116;SGVEP=NPHS2|-|NM_001297575|7|c.*54G>C|.|3'UTR GT:DP:AD:DP4 1/1:19:0,19:0,0,10,9 1 179520506 139788894 G A 2888 PASS VARTYPE=1;BGN=0.00115949;ARL=213;DEA=101;QA=37;PBP=1434;PBM=1463;TYPE=SNP;DBXREF=dbSNP:rs1410592,g1000:0.5877,esp5400:0.6175,ExAC:0.6190,clinvar:rs1410592,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:152262,GnomAD_AN_exome:245720,GnomAD_AC_genome:18838,GnomAD_AN_genome:30856,GnomAD:0.6186;SGVEP=NPHS2|-|NM_001297575|7|c.750C>T|p.(Ala250:)|synonymous GT:DP:AD:DP4 1/1:99:0,99:0,0,49,50 1 179521684 139788973 T C 599 off_target VARTYPE=1;BGN=0.0013919;ARL=258;DER=90;DEA=72;QR=37;QA=36;PBP=288;PBM=318;TYPE=SNP;DBXREF=dbSNP:rs11808359,g1000:0.0214,esp5400:0.0516,GnomAD_AC_genome:1580,GnomAD_AN_genome:30958,GnomAD:0.0510;SGVEP=NPHS2|-|NM_001297575|6|c.669+54A>G|.|intronic GT:DP:AD:DP4 0/1:42:17,25:9,8,12,13 1 179521731 139788993 T C 534 off_target VARTYPE=1;BGN=0.00115949;ARL=229;DER=87;DEA=99;QR=37;QA=37;PBP=271;PBM=271;TYPE=SNP;DBXREF=dbSNP:rs115778946,g1000:0.0160,esp5400:0.0343,ExAC:0.0310,clinvar:rs115778946,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:7476,GnomAD_AN_exome:244136,GnomAD_AC_genome:816,GnomAD_AN_genome:30924,GnomAD:0.0301;SGVEP=NPHS2|-|NM_001297575|6|c.669+7A>G|.|intronic GT:DP:AD:DP4 0/1:62:38,24:19,19,12,12 1 179544898 139791675 T C 1917 PASS VARTYPE=1;BGN=0.0013919;ARL=225;DEA=91;QA=36;PBP=941;PBM=982;TYPE=SNP;DBXREF=dbSNP:rs1079292,g1000:0.9309,esp5400:0.9653,ExAC:0.9580,clinvar:rs1079292,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:93968,GnomAD_AN_exome:96136,GnomAD_AC_genome:29219,GnomAD_AN_genome:30758,GnomAD:0.9708;SGVEP=NPHS2|-|NM_001297575|1|c.102A>G|p.(Gly34:)|synonymous GT:DP:AD:DP4 1/1:69:0,68:0,0,33,35 1 180240752 139901282 C T 285 off_target VARTYPE=1;BGN=0.00115949;ARL=260;DER=66;DEA=26;QR=38;QA=37;PBP=146;PBM=144;TYPE=SNP;DBXREF=dbSNP:rs3845397,g1000:0.4064,GnomAD_AC_genome:12592,GnomAD_AN_genome:30774,GnomAD:0.4092;SGVEP=LHX4|+|NM_033343|4|c.606+83C>T|.|intronic GT:DP:AD:DP4 0/1:25:13,12:6,7,6,6 1 180243524 139902038 A G 1058 PASS VARTYPE=1;BGN=0.000965875;ARL=235;DER=107;DEA=109;QR=36;QA=38;PBP=509;PBM=559;TYPE=SNP;DBXREF=dbSNP:rs7536561,g1000:0.4263,esp5400:0.4065,ExAC:0.4850,PhyloP:0.3770,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:3.2700,clinvar:rs7536561,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:119040,GnomAD_AN_exome:246186,GnomAD_AC_genome:13256,GnomAD_AN_genome:30862,GnomAD:0.4775;SGVEP=LHX4|+|NM_033343|6|c.983A>G|p.(Asn328Ser)|missense GT:DP:AD:DP4 0/1:115:69,46:34,35,22,24 1 180257692 139904541 A C 1339 off_target VARTYPE=1;BGN=0.0013919;ARL=241;DEA=55;QA=36;PBP=656;PBM=685;TYPE=SNP;DBXREF=dbSNP:rs2254465,g1000:0.9519,esp5400:0.9475,ExAC:0.9410,GnomAD_AC_exome:200195,GnomAD_AN_exome:211210,GnomAD_AC_genome:29624,GnomAD_AN_genome:30964,GnomAD:0.9490;SGVEP=ACBD6|-|NM_032360|8|c.695-40T>G|.|intronic GT:DP:AD:DP4 1/1:47:0,47:0,0,23,24 1 180471054 139941243 C A 120 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=238;DER=74;DEA=27;QR=34;QA=37;PBP=75;PBM=49;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12723183,g1000:0.1272,GnomAD_AC_genome:12705,GnomAD_AN_genome:26916,GnomAD:0.4720;SGVEP=ACBD6|-|NM_032360|1|c.222+126G>T|.|intronic GT:DP:AD:DP4 0/1:11:6,5:3,3,3,2 1 181548341 140094466 A G 2482 PASS VARTYPE=1;BGN=0.00115949;ARL=227;DEA=78;QA=37;PBP=1200;PBM=1288;TYPE=SNP;DBXREF=dbSNP:rs17443123,g1000:0.0641,esp5400:0.1070,ExAC:0.1060,GnomAD_AC_exome:25613,GnomAD_AN_exome:245584,GnomAD_AC_genome:2828,GnomAD_AN_genome:30950,GnomAD:0.1028;SGVEP=CACNA1E|+|NM_000721|5|c.750A>G|p.(Ala250:)|synonymous GT:DP:AD:DP4 1/1:85:0,85:0,0,41,44 1 181680101 140107070 AAG A 159 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=211;DER=63;DEA=83;QR=36;QA=76;PBP=82;PBM=83;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs147596634;SGVEP=CACNA1E|+|NM_000721|8|c.1080_1081del|p.(Arg360Serfs*17)|frameshift GT:DP:AD:DP4 0/1:126:115,10:60,55,5,5 1 181684605 140107331 A G 431 low_coverage;off_target VARTYPE=1;BGN=0.00200585;ARL=245;DEA=66;QA=34;PBP=189;PBM=243;TYPE=SNP;DBXREF=dbSNP:rs12407563,g1000:0.8363,GnomAD_AC_genome:26322,GnomAD_AN_genome:30950,GnomAD:0.8505;SGVEP=CACNA1E|+|NM_000721|9|c.1225+78A>G|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,7,9 1 181686216 140107421 T C 838 off_target VARTYPE=1;BGN=0.0013919;ARL=228;DER=88;DEA=49;QR=38;QA=36;PBP=448;PBM=398;TYPE=SNP;DBXREF=dbSNP:rs7540850,g1000:0.5551,esp5400:0.5917,ExAC:0.6730,GnomAD_AC_exome:167398,GnomAD_AN_exome:245832,GnomAD_AC_genome:18823,GnomAD_AN_genome:30912,GnomAD:0.6729;SGVEP=CACNA1E|+|NM_000721|11|c.1316-13T>C|.|intronic GT:DP:AD:DP4 0/1:86:48,38:24,24,20,18 1 181688868 140107609 G A 904 off_target VARTYPE=1;BGN=0.00115949;ARL=229;DER=50;DEA=51;QR=37;QA=37;PBP=496;PBM=417;TYPE=SNP;DBXREF=dbSNP:rs4651113,g1000:0.1795,esp5400:0.1500,ExAC:0.1100,GnomAD_AC_exome:25073,GnomAD_AN_exome:194164,GnomAD_AC_genome:4566,GnomAD_AN_genome:30910,GnomAD:0.1317;SGVEP=CACNA1E|+|NM_000721|13|c.1639-19G>A|.|intronic GT:DP:AD:DP4 0/1:83:44,39:22,22,21,18 1 181701799 140110173 T A 705 PASS VARTYPE=1;BGN=0.0013919;ARL=227;DER=98;DEA=82;QR=35;QA=36;PBP=376;PBM=339;TYPE=SNP;DBXREF=dbSNP:rs35737760,g1000:0.1500,esp5400:0.1265,ExAC:0.1190,PhyloP:-1.4910,SIFT:0.1560,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.0000,MutationTaster:0.0000,GERP:-5.9900,GnomAD_AC_exome:19528,GnomAD_AN_exome:153798,GnomAD_AC_genome:3763,GnomAD_AN_genome:30754,GnomAD:0.1262;SGVEP=CACNA1E|+|NM_000721|20|c.2577T>A|p.(Asp859Glu)|missense GT:DP:AD:DP4 0/1:85:52,33:23,29,17,16 1 181706540 140112025 C T 227 low_coverage;off_target VARTYPE=1;BGN=0.00200585;ARL=269;DER=88;DEA=18;QR=33;QA=34;PBP=135;PBM=96;SP=0;TYPE=SNP;DBXREF=dbSNP:rs73045106,g1000:0.0282,GnomAD_AC_genome:908,GnomAD_AN_genome:30968,GnomAD:0.0293;SGVEP=CACNA1E|+|NM_000721|23|c.3423-121C>T|.|intronic GT:DP:AD:DP4 0/1:17:7,10:5,2,6,4 1 181706685 140112110 C T 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=212;DEA=75;QA=37;PBP=2104;PBM=2104;TYPE=SNP;DBXREF=dbSNP:rs34488539,g1000:0.1831,esp5400:0.1636,ExAC:0.1540,GnomAD_AC_exome:37379,GnomAD_AN_exome:246134,GnomAD_AC_genome:4954,GnomAD_AN_genome:30896,GnomAD:0.1528;SGVEP=CACNA1E|+|NM_000721|23|c.3447C>T|p.(Ile1149:)|synonymous GT:DP:AD:DP4 1/1:144:0,144:0,0,72,72 1 181708168 140112622 A G 457 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=269;DEA=30;QA=36;PBP=257;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs73045109,g1000:0.1985,GnomAD_AC_genome:5401,GnomAD_AN_genome:30904,GnomAD:0.1748;SGVEP=CACNA1E|+|NM_000721|25|c.3613-115A>G|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,9,7 1 181725110 140118107 T C 2946 PASS VARTYPE=1;BGN=0.00115949;ARL=205;DEA=55;QA=37;PBP=1551;PBM=1405;TYPE=SNP;DBXREF=dbSNP:rs4652678,g1000:0.3183,esp5400:0.3200,ExAC:0.2840,GnomAD_AC_exome:69643,GnomAD_AN_exome:245766,GnomAD_AC_genome:9657,GnomAD_AN_genome:30900,GnomAD:0.2866;SGVEP=CACNA1E|+|NM_000721|29|c.4008T>C|p.(His1336:)|synonymous GT:DP:AD:DP4 1/1:101:0,101:0,0,53,48 1 181727030 140118428 A T 513 off_target VARTYPE=1;BGN=0.0013919;ARL=248;DER=38;DEA=79;QR=37;QA=36;PBP=273;PBM=248;TYPE=SNP;DBXREF=dbSNP:rs12564606,g1000:0.2714,GnomAD_AC_genome:8259,GnomAD_AN_genome:30904,GnomAD:0.2672;SGVEP=CACNA1E|+|NM_000721|31|c.4330-53A>T|.|intronic GT:DP:AD:DP4 0/1:51:28,23:14,14,12,11 1 181731667 140118964 TC TCC 230 off_target VARTYPE=1;BGN=0.00200585;ARL=249;DER=79;DEA=71;QR=38;QA=34;PBP=130;PBM=106;TYPE=INDEL;DBXREF=dbSNP:rs149636359,g1000:0.2604,ExAC:0.2450,GnomAD_AC_exome:49354,GnomAD_AN_exome:209726,GnomAD_AC_genome:7736,GnomAD_AN_genome:30562,GnomAD:0.2376;SGVEP=CACNA1E|+|NM_000721|33|c.4606-42dupC|.|intronic GT:DP:AD:DP4 0/1:25:14,11:7,7,6,5 1 181732695 140119044 A G 1085 off_target VARTYPE=1;BGN=0.00115949;ARL=230;DER=64;DEA=46;QR=36;QA=37;PBP=518;PBM=576;TYPE=SNP;DBXREF=dbSNP:rs72735265,g1000:0.2624,esp5400:0.2637,ExAC:0.2540,GnomAD_AC_exome:57655,GnomAD_AN_exome:221878,GnomAD_AC_genome:7991,GnomAD_AN_genome:30886,GnomAD:0.2597;SGVEP=CACNA1E|+|NM_000721|34|c.4815+28A>G|.|intronic GT:DP:AD:DP4 0/1:73:29,44:15,14,21,23 1 181741301 140120242 C T 1950 PASS VARTYPE=1;BGN=0.00115949;ARL=212;DER=91;DEA=104;QR=37;QA=37;PBP=948;PBM=1020;TYPE=SNP;DBXREF=dbSNP:rs199930,g1000:0.2454,esp5400:0.2494,ExAC:0.2480,GnomAD_AC_exome:61394,GnomAD_AN_exome:246140,GnomAD_AC_genome:7501,GnomAD_AN_genome:30894,GnomAD:0.2487;SGVEP=CACNA1E|+|NM_000721|37|c.5073C>T|p.(Asn1691:)|synonymous GT:DP:AD:DP4 0/1:254:163,91:81,82,44,47 1 181741433 140120319 C A 558 off_target VARTYPE=1;BGN=0.0013919;ARL=246;DER=31;DEA=40;QR=37;QA=36;PBP=273;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs73045154,g1000:0.0302,GnomAD_AC_genome:843,GnomAD_AN_genome:30958,GnomAD:0.0272;SGVEP=CACNA1E|+|NM_000721|37|c.5139+66C>A|.|intronic GT:DP:AD:DP4 0/1:55:30,25:14,16,12,13 1 181750469 140121615 G T 305 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=255;DER=5;DEA=51;QR=9;QA=35;PBP=194;PBM=111;TYPE=SNP;DBXREF=dbSNP:rs704328,g1000:0.2883,GnomAD_AC_genome:11674,GnomAD_AN_genome:30858,GnomAD:0.3783;SGVEP=CACNA1E|+|NM_000721|39|c.5268-94G>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,7,4 1 181752923 140122026 AAGCTT A 1807 PASS VARTYPE=1;BGN=0.000965875;ARL=217;DER=13;DEA=101;QR=36;QA=181;PBP=906;PBM=913;TYPE=INDEL;DBXREF=dbSNP:rs36163765,g1000:0.8123,ExAC:0.7740,GnomAD_AC_exome:188310,GnomAD_AN_exome:244424,GnomAD_AC_genome:23895,GnomAD_AN_genome:30546,GnomAD:0.7717;SGVEP=CACNA1E|+|NM_000721|40|c.5470+11_5470+15del|.|intronic GT:DP:AD:DP4 1/1:78:13,65:5,8,32,33 1 181753030 140122049 T C 820 off_target VARTYPE=1;BGN=0.00115949;ARL=263;DEA=40;QA=37;PBP=381;PBM=440;TYPE=SNP;DBXREF=dbSNP:rs546191,g1000:0.7017,GnomAD_AC_genome:21020,GnomAD_AN_genome:30866,GnomAD:0.6810;SGVEP=CACNA1E|+|NM_000721|40|c.5470+110T>C|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,13,15 1 181759657 140123055 G A 2708 PASS VARTYPE=1;BGN=0.0013919;ARL=228;DER=99;DEA=99;QR=24;QA=36;PBP=1351;PBM=1367;TYPE=SNP;DBXREF=dbSNP:rs704326,g1000:0.2764,esp5400:0.3546,ExAC:0.3860,PhyloP:-0.1480,SIFT:0.4050,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0030,LRT:0.0550,MutationTaster:0.0000,GERP:-1.5000,GnomAD_AC_exome:95480,GnomAD_AN_exome:246090,GnomAD_AC_genome:11558,GnomAD_AN_genome:30822,GnomAD:0.3865;SGVEP=CACNA1E|+|NM_000721|44|c.5863G>A|p.(Ala1955Thr)|missense GT:DP:AD:DP4 1/1:97:1,96:1,0,48,48 1 182354850 140213640 A G 753 off_target VARTYPE=1;BGN=0.0013919;ARL=226;DER=41;DEA=98;QR=37;QA=36;PBP=394;PBM=367;TYPE=SNP;DBXREF=dbSNP:rs2296520,g1000:0.6757,esp5400:0.5924,ExAC:0.5740,GnomAD_AC_exome:140400,GnomAD_AN_exome:246118,GnomAD_AC_genome:18340,GnomAD_AN_genome:30878,GnomAD:0.5731;SGVEP=GLUL|-|NM_001033044|5|c.603+45T>C|.|intronic GT:DP:AD:DP4 0/1:49:18,31:9,9,16,15 1 182355046 140213751 A G 885 off_target VARTYPE=1;BGN=0.00115949;ARL=231;DER=45;DEA=71;QR=36;QA=37;PBP=448;PBM=443;TYPE=SNP;DBXREF=dbSNP:rs2296519,g1000:0.6757,esp5400:0.5931,ExAC:0.5740,GnomAD_AC_exome:140251,GnomAD_AN_exome:245830,GnomAD_AC_genome:18330,GnomAD_AN_genome:30858,GnomAD:0.5731;SGVEP=GLUL|-|NM_001033044|5|c.476-24T>C|.|intronic GT:DP:AD:DP4 0/1:47:13,34:6,7,17,17 1 182356399 140214140 A G 692 PASS VARTYPE=1;BGN=0.0013919;ARL=213;DER=62;DEA=88;QR=37;QA=36;PBP=302;PBM=398;TYPE=SNP;DBXREF=dbSNP:rs1058111,g1000:0.6757,esp5400:0.5926,ExAC:0.5750,clinvar:rs1058111,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:140470,GnomAD_AN_exome:246216,GnomAD_AC_genome:18325,GnomAD_AN_genome:30848,GnomAD:0.5731;SGVEP=GLUL|-|NM_001033044|3|c.195T>C|p.(Ser65:)|synonymous GT:DP:AD:DP4 0/1:79:47,32:23,24,14,18 1 182551337 140257249 A C 1522 PASS VARTYPE=1;BGN=0.00115949;ARL=228;DEA=84;QA=37;PBP=762;PBM=762;TYPE=SNP;DBXREF=dbSNP:rs627928,g1000:0.4798,esp5400:0.4748,ExAC:0.5380,PhyloP:-1.5770,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.7640,MutationTaster:0.0000,GERP:-5.5900,GnomAD_AC_exome:131423,GnomAD_AN_exome:243498,GnomAD_AC_genome:15941,GnomAD_AN_genome:30914,GnomAD:0.5370;SGVEP=RNASEL|-|NM_021133|4|c.1623T>G|p.(Asp541Glu)|missense GT:DP:AD:DP4 1/1:52:0,52:0,0,26,26 1 182554557 110902 C T 889 PASS VARTYPE=1;BGN=0.00115949;ARL=227;DER=111;DEA=113;QR=37;QA=37;PBP=475;PBM=423;TYPE=SNP;DBXREF=dbSNP:rs486907,g1000:0.2306,esp5400:0.2780,ExAC:0.3090,PhyloP:0.1020,SIFT:0.9700,PolyPhen2:0.8640,PolyPhen2_HumDiv:0.9980,LRT:0.9220,MutationTaster:0.0000,GERP:0.0561,clinvar:rs486907,CLNSIG:risk_factor,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:75436,GnomAD_AN_exome:246046,GnomAD_AC_genome:9119,GnomAD_AN_genome:30898,GnomAD:0.3053;SGVEP=RNASEL|-|NM_021133|2|c.1385G>A|p.(Arg462Gln)|missense GT:DP:AD:DP4 0/1:78:40,38:20,20,20,18 1 182784022 140309113 T C 1171 off_target VARTYPE=1;BGN=0.00115949;ARL=214;DEA=47;QA=37;PBP=586;PBM=586;TYPE=SNP;DBXREF=dbSNP:rs2275171,g1000:0.5841,esp5400:0.6344,ExAC:0.5890,GnomAD_AC_exome:143352,GnomAD_AN_exome:244682,GnomAD_AC_genome:19460,GnomAD_AN_genome:30918,GnomAD:0.5908;SGVEP=NPL|+|NM_001200050|5|c.307+29T>C|.|intronic GT:DP:AD:DP4 1/1:40:0,40:0,0,20,20 1 183177218 140375194 A G 519 off_target VARTYPE=1;BGN=0.0013919;ARL=228;DER=68;DEA=71;QR=35;QA=36;PBP=250;PBM=275;TYPE=SNP;DBXREF=dbSNP:rs647347,g1000:0.4962,esp5400:0.4453,ExAC:0.4730,clinvar:rs647347,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:116463,GnomAD_AN_exome:245938,GnomAD_AC_genome:13912,GnomAD_AN_genome:30812,GnomAD:0.4711;SGVEP=LAMC2|+|NM_005562|2|c.268+14A>G|.|intronic GT:DP:AD:DP4 0/1:49:26,23:13,13,11,12 1 183525452 140438519 T G 662 off_target VARTYPE=1;BGN=0.000965875;ARL=255;DEA=36;QA=38;PBP=301;PBM=361;TYPE=SNP;DBXREF=dbSNP:rs699244,g1000:0.9275,GnomAD_AC_genome:27801,GnomAD_AN_genome:30954,GnomAD:0.8981;SGVEP=NCF2|-|NM_000433|15|c.1469-87A>C|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,10,12 1 185833565 140720055 A C 366 off_target VARTYPE=1;BGN=0.0013919;ARL=222;DER=21;DEA=35;QR=37;QA=36;PBP=185;PBM=187;TYPE=SNP;DBXREF=dbSNP:rs7556537,g1000:0.6100,esp5400:0.5929,ExAC:0.4970,GnomAD_AC_exome:118691,GnomAD_AN_exome:244298,GnomAD_AC_genome:17627,GnomAD_AN_genome:30916,GnomAD:0.4953;SGVEP=HMCN1|+|NM_031935|3|c.340-37A>C|.|intronic GT:DP:AD:DP4 0/1:33:17,16:9,8,8,8 1 186022032 140747522 T G 762 off_target VARTYPE=1;BGN=0.00115949;ARL=235;DEA=45;QA=37;PBP=381;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs10911808,g1000:0.6747,esp5400:0.6585,GnomAD_AC_genome:19474,GnomAD_AN_genome:30810,GnomAD:0.6321;SGVEP=HMCN1|+|NM_031935|43|c.6578-52T>G|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,13,13 1 186026474 140748595 T C 1950 PASS VARTYPE=1;BGN=0.000965875;ARL=235;DEA=115;QA=38;PBP=962;PBM=992;TYPE=SNP;DBXREF=dbSNP:rs12129650,g1000:0.5300,esp5400:0.5255,ExAC:0.5390,PhyloP:1.0200,SIFT:0.9980,PolyPhen2:0.4460,PolyPhen2_HumDiv:0.9180,LRT:1.0000,MutationTaster:1.0000,GERP:4.6700,clinvar:rs12129650,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:134167,GnomAD_AN_exome:245540,GnomAD_AC_genome:16056,GnomAD_AN_genome:30790,GnomAD:0.5436;SGVEP=HMCN1|+|NM_031935|46|c.7253T>C|p.(Ile2418Thr)|missense GT:DP:AD:DP4 1/1:65:0,65:0,0,32,33 1 186030902 140749169 G T 361 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=244;DEA=33;QA=38;PBP=181;PBM=181;TYPE=SNP;DBXREF=dbSNP:rs10737266,g1000:0.6300,GnomAD_AC_genome:18615,GnomAD_AN_genome:30848,GnomAD:0.6034;SGVEP=HMCN1|+|NM_031935|47|c.7313-81G>T|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 186031041 140749225 C T 2308 PASS VARTYPE=1;BGN=0.00115949;ARL=206;DEA=102;QA=37;PBP=1171;PBM=1142;TYPE=SNP;DBXREF=dbSNP:rs7522627,g1000:0.6544,esp5400:0.6279,ExAC:0.5980,clinvar:rs7522627,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:147033,GnomAD_AN_exome:245474,GnomAD_AC_genome:18934,GnomAD_AN_genome:30878,GnomAD:0.6006;SGVEP=HMCN1|+|NM_031935|47|c.7371C>T|p.(Cys2457:)|synonymous GT:DP:AD:DP4 1/1:79:0,79:0,0,40,39 1 186265948 140800680 T A 1084 off_target VARTYPE=1;BGN=0.00115949;ARL=229;DEA=63;QA=37;PBP=528;PBM=557;TYPE=SNP;DBXREF=dbSNP:rs1293987,g1000:0.7232,esp5400:0.5646,GnomAD_AC_genome:18871,GnomAD_AN_genome:30890,GnomAD:0.6109;SGVEP=PRG4|+|NM_001127708|2|c.-30-30T>A|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,18,19 1 186276394 140804241 T G 141 low_variant_fraction VARTYPE=1;BGN=0.00416557;ARL=160;DER=79;DEA=51;QR=28;QA=30;PBP=71;PBM=76;SP=1;TYPE=SNP;DBXREF=dbSNP:rs201070519,g1000:0.0014,PhyloP:-0.4720,SIFT:0.3300,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-1.2000,GnomAD_AC_exome:214,GnomAD_AN_exome:199446,GnomAD:0.0011;SGVEP=PRG4|+|NM_001127708|6|c.1420T>G|p.(Ser474Ala)|missense GT:DP:AD:DP4 0/1:92:78,12:44,34,6,6 1 186277088 140804922 G C 10000 PASS VARTYPE=1;BGN=0.00167091;ARL=208;DER=55;DEA=87;QR=10;QA=35;PBP=1882;PBM=1662;TYPE=SNP;DBXREF=dbSNP:rs68069719,g1000:1.0000,ExAC:1.0000,PhyloP:-1.5290,SIFT:0.4230,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-1.2200,GnomAD_AC_exome:241373,GnomAD_AN_exome:241390,GnomAD_AC_genome:27410,GnomAD_AN_genome:27432,GnomAD:0.9999;SGVEP=PRG4|+|NM_001127708|6|c.2114G>C|p.(Cys705Ser)|missense GT:DP:AD:DP4 1/1:129:0,128:0,0,68,60 1 186644309 140884344 G A 299 off_target VARTYPE=1;BGN=0.00200585;ARL=263;DER=44;DEA=28;QR=38;QA=34;PBP=151;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs4648282,g1000:0.0124,GnomAD_AC_genome:474,GnomAD_AN_genome:30950,GnomAD:0.0153;SGVEP=PTGS2|-|NM_000963|9|c.1405+72C>T|.|intronic GT:DP:AD:DP4 0/1:29:15,14:8,7,7,7 1 186649221 140885975 A G 243 low_coverage;off_target VARTYPE=1;BGN=0.00200585;ARL=287;DEA=57;QA=34;PBP=135;PBM=108;TYPE=SNP;DBXREF=dbSNP:rs2745557,g1000:0.8540,GnomAD_AC_genome:26067,GnomAD_AN_genome:30936,GnomAD:0.8426;SGVEP=PTGS2|-|NM_000963|1|c.52+150T>C|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,5,4 1 186863385 140918144 TAAA TA 177 low_coverage;off_target VARTYPE=1;BGN=0.0168436;ARL=205;DER=4;DEA=47;QR=36;QA=73;HL=3;PBP=89;PBM=89;TYPE=INDEL;DBXREF=dbSNP:rs570962696,g1000:0.4481,ExAC:0.3830,GnomAD_AC_exome:94020,GnomAD_AN_exome:236012,GnomAD_AC_genome:12166,GnomAD_AN_genome:30834,GnomAD:0.3979;SGVEP=PLA2G4A|+|NM_001311193|5|c.378+44_378+45del|.|intronic GT:DP:AD:DP4 1/1:10:2,8:1,1,4,4 1 186876203 140919805 GAA GA 144 off_target VARTYPE=1;BGN=0.0135939;ARL=224;DER=45;DEA=58;QR=37;QA=37;HL=2;PBP=73;PBM=75;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs554296188,g1000:0.0028,GnomAD_AC_genome:60,GnomAD_AN_genome:30870,GnomAD:0.0019;SGVEP=PLA2G4A|+|NM_001311193|5|c.378+12862del|.|intronic GT:DP:AD:DP4 0/1:31:19,12:10,9,6,6 1 186919732 140926154 A T 662 off_target VARTYPE=1;BGN=0.000965875;ARL=239;DEA=76;QA=38;PBP=331;PBM=331;TYPE=SNP;DBXREF=dbSNP:rs4650709,g1000:0.9816,esp5400:0.9526,GnomAD_AC_genome:29552,GnomAD_AN_genome:30974,GnomAD:0.9541;SGVEP=PLA2G4A|+|NM_001311193|11|c.1085-57A>T|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 1 186925168 140926945 A G 762 off_target VARTYPE=1;BGN=0.00115949;ARL=241;DEA=53;QA=37;PBP=381;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs5007825,g1000:0.9816,GnomAD_AC_genome:29401,GnomAD_AN_genome:30810,GnomAD:0.9543;SGVEP=PLA2G4A|+|NM_001311193|12|c.1157-66A>G|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,13,13 1 186925194 140926960 T C 1010 off_target VARTYPE=1;BGN=0.00115949;ARL=236;DER=0;DEA=69;QR=38;QA=37;PBP=499;PBM=515;TYPE=SNP;DBXREF=dbSNP:rs5007824,g1000:0.9816,esp5400:0.9592,ExAC:0.9550,GnomAD_AC_exome:230304,GnomAD_AN_exome:241370,GnomAD_AC_genome:29491,GnomAD_AN_genome:30904,GnomAD:0.9542;SGVEP=PLA2G4A|+|NM_001311193|12|c.1157-40T>C|.|intronic GT:DP:AD:DP4 1/1:36:1,35:0,1,17,18 1 186925552 140927120 T C 392 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=260;DEA=43;QA=38;PBP=181;PBM=211;TYPE=SNP;DBXREF=dbSNP:rs2307199,g1000:0.9816,GnomAD_AC_genome:29556,GnomAD_AN_genome:30976,GnomAD:0.9542;SGVEP=PLA2G4A|+|NM_001311193|12|c.1399+76T>C|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 1 186946638 140929832 C T 352 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=267;DEA=60;QA=37;PBP=176;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs2891262,g1000:0.1835,GnomAD_AC_genome:6338,GnomAD_AN_genome:30882,GnomAD:0.2052;SGVEP=PLA2G4A|+|NM_001311193|14|c.1585-87C>T|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 186946641 140929844 C G 371 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=270;DEA=59;QA=36;PBP=200;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs2891263,g1000:0.1835,GnomAD_AC_genome:6332,GnomAD_AN_genome:30884,GnomAD:0.2050;SGVEP=PLA2G4A|+|NM_001311193|14|c.1585-84C>G|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 1 186946912 140929924 G A 542 low_coverage VARTYPE=1;BGN=0.000965875;ARL=243;DEA=87;QA=38;PBP=271;PBM=271;TYPE=SNP;DBXREF=dbSNP:rs2307198,g1000:0.9882,esp5400:0.9854,ExAC:0.9800,PhyloP:1.0890,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0300,GERP:5.9800,GnomAD_AC_exome:241299,GnomAD_AN_exome:246234,GnomAD_AC_genome:30411,GnomAD_AN_genome:30970,GnomAD:0.9802;SGVEP=PLA2G4A|+|NM_001311193|14|c.1772G>A|p.(Arg591Lys)|missense GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 1 192779227 141963343 T A 491 off_target VARTYPE=1;BGN=0.000965875;ARL=234;DER=31;DEA=42;QR=38;QA=38;PBP=262;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs2746073,g1000:0.2508,GnomAD_AC_genome:6914,GnomAD_AN_genome:30926,GnomAD:0.2236;SGVEP=RGS2|+|NM_002923|2|c.111-69T>A|.|intronic GT:DP:AD:DP4 0/1:31:12,19:6,6,10,9 1 192780088 141963773 GCT G 313 off_target VARTYPE=1;BGN=0.000965875;ARL=242;DER=65;DEA=64;QR=35;QA=74;PBP=160;PBM=159;TYPE=INDEL;DBXREF=dbSNP:rs866634870,g1000:0.3203,ExAC:0.2850,GnomAD_AC_exome:69003,GnomAD_AN_exome:246080,GnomAD_AC_genome:8705,GnomAD_AN_genome:30880,GnomAD:0.2806;SGVEP=RGS2|+|NM_002923|4|c.275-18_275-17del|.|intronic GT:DP:AD:DP4 0/1:43:29,14:14,15,7,7 1 192780337 141963928 CAAA CA 111 low_coverage;off_target VARTYPE=1;BGN=0.0168436;ARL=247;DER=45;DEA=13;QR=37;QA=76;HL=3;PBP=59;PBM=56;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs10607546,g1000:0.3207,GnomAD_AC_genome:8683,GnomAD_AN_genome:30840,GnomAD:0.2815;SGVEP=RGS2|+|NM_002923|4|c.441+62_441+63del|.|intronic GT:DP:AD:DP4 0/1:13:9,4:4,5,2,2 1 193051685 141996237 G A 1396 off_target VARTYPE=1;BGN=0.0013919;ARL=224;DEA=70;QA=36;PBP=713;PBM=685;TYPE=SNP;DBXREF=dbSNP:rs2275444,g1000:0.5934,esp5400:0.6703,ExAC:0.6760,GnomAD_AC_exome:166024,GnomAD_AN_exome:245518,GnomAD_AC_genome:19596,GnomAD_AN_genome:30838,GnomAD:0.6717;SGVEP=TROVE2|+|NM_001042369|8|c.1318-7G>A|.|intronic GT:DP:AD:DP4 1/1:49:0,49:0,0,25,24 1 193054088 141996726 C T 301 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=231;DEA=55;QA=38;PBP=151;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs72740218,g1000:0.0302,ExAC:0.0230,GnomAD_AC_exome:6792,GnomAD_AN_exome:139614,GnomAD_AC_genome:1299,GnomAD_AN_genome:30804,GnomAD:0.0475;SGVEP=TROVE2|+|NM_001042369|9|c.1543+301C>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 193094375 111282 T C 2017 off_target VARTYPE=1;BGN=0.00115949;ARL=244;DEA=62;QA=37;PBP=967;PBM=1054;TYPE=SNP;DBXREF=dbSNP:rs4466634,g1000:0.5903,esp5400:0.6349,ExAC:0.6500,GnomAD_AC_exome:159394,GnomAD_AN_exome:244178,GnomAD_AC_genome:18698,GnomAD_AN_genome:30888,GnomAD:0.6475;SGVEP=CDC73|+|NM_024529|2|c.237+28T>C|.|intronic GT:DP:AD:DP4 1/1:69:0,69:0,0,33,36 1 193150326 111316 A C 568 PASS VARTYPE=1;BGN=0.00115949;ARL=209;DER=63;DEA=90;QR=36;QA=37;PBP=291;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs41265203,g1000:0.0006,esp5400:0.0025,ExAC:0.0010,PhyloP:2.1130,SIFT:0.9040,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0080,LRT:0.9860,MutationTaster:1.0000,GERP:5.2600,clinvar:rs41265203,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:306,GnomAD_AN_exome:245972,GnomAD_AC_genome:30,GnomAD_AN_genome:30934,GnomAD:0.0012;SGVEP=B3GALT2|-|NM_003783|2|c.367T>G|p.(Tyr123Asp)|missense GT:DP:AD:DP4 0/1:48:24,24:11,13,12,12 1 193205272 142016125 T A 571 off_target VARTYPE=1;BGN=0.0013919;ARL=261;DEA=40;QA=36;PBP=314;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs3738244,g1000:0.6484,GnomAD_AC_genome:20392,GnomAD_AN_genome:30926,GnomAD:0.6594;SGVEP=CDC73|+|NM_024529|15|c.1317-114T>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,11,9 1 196642072 142564882 C T 278 off_target VARTYPE=1;BGN=0.000965875;ARL=211;DER=54;DEA=31;QR=36;QA=38;PBP=142;PBM=142;TYPE=SNP;DBXREF=dbSNP:rs551397,g1000:0.4681,esp5400:0.3806,ExAC:0.3130,GnomAD_AC_exome:73646,GnomAD_AN_exome:235324,GnomAD_AC_genome:12168,GnomAD_AN_genome:30870,GnomAD:0.3224;SGVEP=CFH|+|NM_000186|2|c.59-36C>T|.|intronic GT:DP:AD:DP4 0/1:32:20,12:10,10,6,6 1 196642233 111374 G A 376 PASS VARTYPE=1;BGN=0.000965875;ARL=210;DER=69;DEA=44;QR=37;QA=38;PBP=192;PBM=190;TYPE=SNP;DBXREF=dbSNP:rs800292,g1000:0.4681,esp5400:0.3916,ExAC:0.3200,PhyloP:0.8010,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:5.1200,clinvar:rs800292,CLNSIG:Benign|risk_factor,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:77534,GnomAD_AN_exome:245304,GnomAD_AC_genome:12152,GnomAD_AN_genome:30886,GnomAD:0.3247;SGVEP=CFH|+|NM_000186|2|c.184G>A|p.(Val62Ile)|missense GT:DP:AD:DP4 0/1:39:23,16:11,12,8,8 1 196642969 142564974 CTTTTTTTTT CTTTTTTTTTTT 330 off_target VARTYPE=1;BGN=0.123373;ARL=223;DER=34;DEA=90;QR=38;QA=69;HL=9;PBP=180;PBM=153;TYPE=INDEL;DBXREF=dbSNP:rs552281857,g1000:0.3057,ExAC:0.2610,GnomAD_AC_genome:7202,GnomAD_AN_genome:30504,GnomAD:0.2361;SGVEP=CFH|+|NM_000186|3|c.245-10_245-9dup|.|intronic GT:DP:AD:DP4 0/1:37:15,22:9,6,11,11 1 196654324 142565736 A C 1609 PASS VARTYPE=1;BGN=0.00115949;ARL=224;DEA=102;QA=37;PBP=820;PBM=791;TYPE=SNP;DBXREF=dbSNP:rs1061147,g1000:0.7131,esp5400:0.6096,ExAC:0.6670,clinvar:rs1061147,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:165877,GnomAD_AN_exome:245644,GnomAD_AC_genome:19080,GnomAD_AN_genome:30834,GnomAD:0.6690;SGVEP=CFH|+|NM_000186|7|c.921A>C|p.(Ala307:)|synonymous GT:DP:AD:DP4 1/1:55:0,55:0,0,28,27 1 196658497 142565965 G T 457 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=204;DEA=15;QA=36;PBP=228;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs482934,g1000:0.7816,GnomAD_AC_genome:20943,GnomAD_AN_genome:30868,GnomAD:0.6785;SGVEP=CFH|+|NM_000186|8|c.965-53G>T|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 1 196659237 111400 C T 2308 PASS VARTYPE=1;BGN=0.00115949;ARL=223;DEA=67;QA=37;PBP=1200;PBM=1113;TYPE=SNP;DBXREF=dbSNP:rs1061170,g1000:0.7334,esp5400:0.6258,ExAC:0.6710,PhyloP:-4.0100,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-9.0900,clinvar:rs1061170,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:166183,GnomAD_AN_exome:244866,GnomAD_AC_genome:19532,GnomAD_AN_genome:30826,GnomAD:0.6736;SGVEP=CFH|+|NM_000186|9|c.1204C>T|p.(His402Tyr)|missense GT:DP:AD:DP4 1/1:79:0,79:0,0,41,38 1 196682947 111421 G A 340 PASS VARTYPE=1;BGN=0.000965875;ARL=215;DER=73;DEA=99;QR=38;QA=38;PBP=160;PBM=186;TYPE=SNP;DBXREF=dbSNP:rs2274700,g1000:0.4790,esp5400:0.4265,ExAC:0.4420,clinvar:rs2274700,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:108802,GnomAD_AN_exome:245132,GnomAD_AC_genome:13072,GnomAD_AN_genome:30840,GnomAD:0.4416;SGVEP=CFH|+|NM_000186|10|c.1419G>A|p.(Ala473:)|synonymous GT:DP:AD:DP4 0/1:43:28,15:14,14,7,8 1 196695742 142591332 A G 123 PASS VARTYPE=1;BGN=0.000965875;ARL=220;DER=76;DEA=33;QR=38;QA=38;PBP=64;PBM=64;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3753396,g1000:0.2029,esp5400:0.1377,ExAC:0.1950,clinvar:rs3753396,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:49851,GnomAD_AN_exome:245544,GnomAD_AC_genome:4847,GnomAD_AN_genome:30930,GnomAD:0.1978;SGVEP=CFH|+|NM_000186|13|c.2016A>G|p.(Gln672:)|synonymous GT:DP:AD:DP4 0/1:30:24,6:12,12,3,3 1 196705926 142592488 C A 293 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=235;DEA=47;QA=37;PBP=147;PBM=147;TYPE=SNP;DBXREF=dbSNP:rs375046,g1000:0.7748,esp5400:0.3760,ExAC:0.4260,GnomAD_AC_exome:33517,GnomAD_AN_exome:56980,GnomAD_AC_genome:19476,GnomAD_AN_genome:29396,GnomAD:0.6135;SGVEP=CFH|+|NM_000186|16|c.2414-28C>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 196709774 142592977 G T 553 PASS VARTYPE=1;BGN=0.00115949;ARL=230;DER=80;DEA=85;QR=36;QA=37;PBP=286;PBM=274;TYPE=SNP;DBXREF=dbSNP:rs1065489,g1000:0.2033,esp5400:0.1388,ExAC:0.1950,PhyloP:-0.2480,SIFT:0.4070,PolyPhen2:0.1960,PolyPhen2_HumDiv:0.7500,MutationTaster:0.0000,GERP:-2.3900,clinvar:rs1065489,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:50086,GnomAD_AN_exome:246018,GnomAD_AC_genome:4886,GnomAD_AN_genome:30822,GnomAD:0.1986;SGVEP=CFH|+|NM_000186|18|c.2808G>T|p.(Glu936Asp)|missense GT:DP:AD:DP4 0/1:35:13,22:5,8,11,11 1 196794867 142602851 G A 243 off_target VARTYPE=1;BGN=0.000965875;ARL=265;DER=39;DEA=52;QR=37;QA=38;PBP=124;PBM=124;TYPE=SNP;DBXREF=dbSNP:rs372075,g1000:0.1378,GnomAD_AC_genome:4234,GnomAD_AN_genome:27256,GnomAD:0.1553;SGVEP=CFHR1|+|NM_002113|2|c.253+66G>A|.|intronic GT:DP:AD:DP4 0/1:22:12,10:6,6,5,5 1 196795844 142602959 C T 255 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=282;DER=38;DEA=23;QR=37;QA=36;PBP=157;PBM=102;TYPE=SNP;DBXREF=dbSNP:rs111662284,g1000:0.0849,GnomAD_AC_genome:2923,GnomAD_AN_genome:27362,GnomAD:0.1068;SGVEP=CFHR1|+|NM_002113|3|c.254-115C>T|.|intronic GT:DP:AD:DP4 0/1:14:4,10:2,2,6,4 1 196795849 142602961 A G 571 off_target VARTYPE=1;BGN=0.0013919;ARL=266;DEA=23;QA=36;PBP=314;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs424722,g1000:0.4736,GnomAD_AC_genome:12511,GnomAD_AN_genome:27082,GnomAD:0.4620;SGVEP=CFHR1|+|NM_002113|3|c.254-110A>G|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,11,9 1 196796184 142603063 G A 1230 off_target VARTYPE=1;BGN=0.00115949;ARL=230;DEA=51;QA=37;PBP=557;PBM=674;TYPE=SNP;DBXREF=dbSNP:rs399507,g1000:0.4734,esp5400:0.4658,ExAC:0.4460,GnomAD_AC_exome:102452,GnomAD_AN_exome:226658,GnomAD_AC_genome:12627,GnomAD_AN_genome:27102,GnomAD:0.4535;SGVEP=CFHR1|+|NM_002113|3|c.430+49G>A|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,19,23 1 196796240 142603073 T A 371 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=277;DEA=37;QA=36;PBP=143;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs438781,g1000:0.4970,GnomAD_AC_genome:13176,GnomAD_AN_genome:27300,GnomAD:0.4826;SGVEP=CFHR1|+|NM_002113|3|c.430+105T>A|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,5,8 1 196799691 142603567 G A 2018 PASS VARTYPE=1;BGN=0.00115949;ARL=221;DER=86;DEA=82;QR=37;QA=37;PBP=1005;PBM=1031;TYPE=SNP;DBXREF=dbSNP:rs12406079,g1000:0.0952,esp5400:0.1336,ExAC:0.1200,GnomAD_AC_exome:28111,GnomAD_AN_exome:232342,GnomAD_AC_genome:3138,GnomAD_AN_genome:27234,GnomAD:0.1204;SGVEP=CFHR1|+|NM_002113|5|c.669G>A|p.(Pro223:)|synonymous GT:DP:AD:DP4 0/1:274:179,95:90,89,47,48 1 196801042 142603863 G T 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=220;DER=18;DEA=105;QR=35;QA=37;PBP=1925;PBM=2041;TYPE=SNP;DBXREF=dbSNP:rs4230,g1000:0.5074,esp5400:0.4868,ExAC:0.4540,GnomAD_AC_exome:106174,GnomAD_AN_exome:231810,GnomAD_AC_genome:13007,GnomAD_AN_genome:27152,GnomAD:0.4602;SGVEP=CFHR1|+|NM_002113|6|c.906G>T|p.(Arg302:)|synonymous GT:DP:AD:DP4 1/1:142:4,138:2,2,67,71 1 196801078 142603886 A T 3183 PASS VARTYPE=1;BGN=0.00115949;ARL=224;DER=54;DEA=86;QR=38;QA=37;PBP=1564;PBM=1635;TYPE=SNP;DBXREF=dbSNP:rs414628,g1000:0.4237,esp5400:0.4010,ExAC:0.4290,GnomAD_AC_exome:101242,GnomAD_AN_exome:231294,GnomAD_AC_genome:11208,GnomAD_AN_genome:27238,GnomAD:0.4350;SGVEP=CFHR1|+|NM_002113|6|c.942A>T|p.(Arg314:)|synonymous GT:DP:AD:DP4 1/1:117:5,112:3,2,55,57 1 196801190 142603930 C A 937 off_target VARTYPE=1;BGN=0.00115949;ARL=261;DEA=36;QA=37;PBP=440;PBM=499;TYPE=SNP;DBXREF=dbSNP:rs390679,g1000:0.4235,GnomAD_AC_genome:11319,GnomAD_AN_genome:27298,GnomAD:0.4146;SGVEP=CFHR1|+|NM_002113|6|c.*61C>A|.|3'UTR GT:DP:AD:DP4 1/1:32:0,32:0,0,15,17 1 196946775 142627003 T C 244 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=206;DER=53;DEA=67;QR=38;QA=37;PBP=126;PBM=123;TYPE=SNP;DBXREF=dbSNP:rs9427662,g1000:0.1769,esp5400:0.2074,ExAC:0.1110,PhyloP:0.0350,SIFT:1.0000,MutationTaster:0.0000,GERP:0.1990,clinvar:rs9427662,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:25280,GnomAD_AN_exome:246184,GnomAD_AC_genome:5484,GnomAD_AN_genome:30942,GnomAD:0.1110;SGVEP=CFHR5|+|NM_030787|1|c.-20T>C|.|5'UTR GT:DP:AD:DP4 0/1:19:9,10:4,5,5,5 1 196946869 142627084 T A 188 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=207;DER=75;DEA=29;QR=36;QA=37;PBP=96;PBM=96;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3748557,g1000:0.1577,esp5400:0.1840,ExAC:0.2080,GnomAD_AC_exome:50811,GnomAD_AN_exome:246144,GnomAD_AC_genome:5668,GnomAD_AN_genome:30918,GnomAD:0.2038;SGVEP=CFHR5|+|NM_030787|1|c.58+17T>A|.|intronic GT:DP:AD:DP4 0/1:18:10,8:5,5,4,4 1 196952268 142628076 C T 234 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=222;DER=56;DEA=30;QR=28;QA=36;PBP=107;PBM=130;TYPE=SNP;DBXREF=dbSNP:rs45489701,g1000:0.1825,GnomAD_AC_genome:6259,GnomAD_AN_genome:30900,GnomAD:0.2026;SGVEP=CFHR5|+|NM_030787|2|c.253+59C>T|.|intronic GT:DP:AD:DP4 0/1:12:3,9:1,2,4,5 1 197030201 142636848 T C 355 PASS VARTYPE=1;BGN=0.00115949;ARL=197;DER=14;DEA=29;QR=36;QA=37;PBP=167;PBM=194;TYPE=SNP;DBXREF=dbSNP:rs5997,g1000:0.7837,esp5400:0.7536,ExAC:0.8780,clinvar:rs5997,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:203662,GnomAD_AN_exome:228740,GnomAD_AC_genome:24382,GnomAD_AN_genome:30824,GnomAD:0.8786;SGVEP=F13B|-|NM_001994|4|c.456A>G|p.(Thr152:)|synonymous GT:DP:AD:DP4 0/1:31:16,15:8,8,7,8 1 197031021 111559 C T 654 PASS VARTYPE=1;BGN=0.0013919;ARL=199;DER=97;DEA=47;QR=37;QA=36;PBP=328;PBM=333;TYPE=SNP;DBXREF=dbSNP:rs6003,g1000:0.7618,esp5400:0.7355,ExAC:0.8720,PhyloP:-0.1510,SIFT:0.6200,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0000,LRT:0.6090,MutationTaster:0.0000,GERP:-0.8180,clinvar:rs6003,CLNSIG:Benign|risk_factor,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:216424,GnomAD_AN_exome:245088,GnomAD_AC_genome:23946,GnomAD_AN_genome:30874,GnomAD:0.8710;SGVEP=F13B|-|NM_001994|3|c.344G>A|p.(Arg115His)|missense GT:DP:AD:DP4 0/1:72:42,30:22,20,15,15 1 197053373 142639629 G A 195 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=261;DER=9;DEA=96;QR=38;QA=38;PBP=114;PBM=84;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12677,g1000:0.7823,clinvar:rs12677,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:24435,GnomAD_AN_genome:30870,GnomAD:0.7915;SGVEP=ASPM|-|NM_001206846|27|c.*81C>T|.|3'UTR GT:DP:AD:DP4 0/1:9:2,7:1,1,4,3 1 197059878 142640667 G A 119 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=282;DER=40;DEA=35;QR=38;QA=36;PBP=73;PBM=49;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4915315,g1000:0.7690,GnomAD_AC_genome:23987,GnomAD_AN_genome:30912,GnomAD:0.7760;SGVEP=ASPM|-|NM_001206846|22|c.4881+102C>T|.|intronic GT:DP:AD:DP4 0/1:10:5,5:3,2,3,2 1 197059892 142640669 A G 146 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=284;DER=46;DEA=41;QR=38;QA=37;PBP=102;PBM=49;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10754214,g1000:0.7572,GnomAD_AC_genome:23781,GnomAD_AN_genome:30912,GnomAD:0.7693;SGVEP=ASPM|-|NM_001206846|22|c.4881+88T>C|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,4,2 1 197059928 142640673 A G 170 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=275;DER=56;DEA=69;QR=37;QA=38;PBP=100;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4915316,g1000:0.7564,esp5400:0.7168,GnomAD_AC_genome:23746,GnomAD_AN_genome:30886,GnomAD:0.7688;SGVEP=ASPM|-|NM_001206846|22|c.4881+52T>C|.|intronic GT:DP:AD:DP4 0/1:16:9,7:5,4,4,3 1 197070442 112003 G T 732 PASS VARTYPE=1;BGN=0.00115949;ARL=239;DER=105;DEA=112;QR=37;QA=37;PBP=358;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs3762271,g1000:0.2143,esp5400:0.3198,ExAC:0.3390,PhyloP:-0.1670,SIFT:0.9790,PolyPhen2:0.9830,PolyPhen2_HumDiv:0.9920,LRT:0.7170,MutationTaster:0.2010,GERP:-1.2700,clinvar:rs3762271,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:81612,GnomAD_AN_exome:243204,GnomAD_AC_genome:9719,GnomAD_AN_genome:30768,GnomAD:0.3334;SGVEP=ASPM|-|NM_018136|18|c.7939C>A|p.(Leu2647Ile)|missense GT:DP:AD:DP4 0/1:62:31,31:15,16,15,16 1 197070697 112071 T C 226 PASS VARTYPE=1;BGN=0.00200585;ARL=247;DER=106;DEA=118;QR=36;QA=34;PBP=119;PBM=113;TYPE=SNP;DBXREF=dbSNP:rs41310927,g1000:0.2143,esp5400:0.3170,ExAC:0.3400,PhyloP:2.0530,SIFT:0.9900,PolyPhen2:0.9360,PolyPhen2_HumDiv:0.9970,LRT:0.9990,MutationTaster:1.0000,GERP:5.1500,clinvar:rs41310927,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:81744,GnomAD_AN_exome:243008,GnomAD_AC_genome:9654,GnomAD_AN_genome:30742,GnomAD:0.3339;SGVEP=ASPM|-|NM_018136|18|c.7684A>G|p.(Ser2562Gly)|missense GT:DP:AD:DP4 0/1:40:28,12:12,16,6,6 1 197070707 112076 G A 204 PASS VARTYPE=1;BGN=0.00115949;ARL=248;DER=112;DEA=105;QR=37;QA=37;PBP=107;PBM=103;TYPE=SNP;DBXREF=dbSNP:rs41308365,g1000:0.2143,esp5400:0.3182,ExAC:0.3390,clinvar:rs41308365,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:81677,GnomAD_AN_exome:243004,GnomAD_AC_genome:9628,GnomAD_AN_genome:30728,GnomAD:0.3336;SGVEP=ASPM|-|NM_018136|18|c.7674C>T|p.(Ile2558:)|synonymous GT:DP:AD:DP4 0/1:40:30,10:13,17,5,5 1 197070815 112114 T C 269 PASS VARTYPE=1;BGN=0.00115949;ARL=245;DER=106;DEA=112;QR=38;QA=37;PBP=150;PBM=125;TYPE=SNP;DBXREF=dbSNP:rs1412640,g1000:0.8159,esp5400:0.7852,ExAC:0.8870,clinvar:rs1412640,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:219290,GnomAD_AN_exome:244814,GnomAD_AC_genome:25214,GnomAD_AN_genome:30846,GnomAD:0.8870;SGVEP=ASPM|-|NM_018136|18|c.7566A>G|p.(Leu2522:)|synonymous GT:DP:AD:DP4 0/1:48:35,13:17,18,7,6 1 197070901 112146 A G 1509 PASS VARTYPE=1;BGN=0.0013919;ARL=243;DEA=113;QA=36;PBP=742;PBM=770;TYPE=SNP;DBXREF=dbSNP:rs964201,g1000:0.9974,esp5400:0.9965,ExAC:0.9960,PhyloP:1.1420,SIFT:0.0000,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0010,LRT:1.0000,MutationTaster:1.0000,GERP:4.8300,clinvar:rs964201,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:244474,GnomAD_AN_exome:245388,GnomAD_AC_genome:30762,GnomAD_AN_genome:30880,GnomAD:0.9963;SGVEP=ASPM|-|NM_018136|18|c.7480T>C|p.(Tyr2494His)|missense GT:DP:AD:DP4 1/1:53:0,53:0,0,26,27 1 197072420 112306 T C 1390 PASS VARTYPE=1;BGN=0.00115949;ARL=236;DER=109;DEA=89;QR=36;QA=37;PBP=700;PBM=700;TYPE=SNP;DBXREF=dbSNP:rs41310925,g1000:0.2131,esp5400:0.3179,ExAC:0.3400,clinvar:rs41310925,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:82465,GnomAD_AN_exome:245022,GnomAD_AC_genome:9693,GnomAD_AN_genome:30832,GnomAD:0.3341;SGVEP=ASPM|-|NM_018136|18|c.5961A>G|p.(Gln1987:)|synonymous GT:DP:AD:DP4 0/1:90:34,56:17,17,28,28 1 197073932 112479 T C 281 PASS VARTYPE=1;BGN=0.00115949;ARL=220;DER=101;DEA=82;QR=37;QA=37;PBP=144;PBM=144;TYPE=SNP;DBXREF=dbSNP:rs2878749,g1000:0.2145,esp5400:0.3193,ExAC:0.3400,clinvar:rs2878749,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:75523,GnomAD_AN_exome:219838,GnomAD_AC_genome:9746,GnomAD_AN_genome:30826,GnomAD:0.3402;SGVEP=ASPM|-|NM_018136|18|c.4449A>G|p.(Lys1483:)|synonymous GT:DP:AD:DP4 0/1:58:44,14:22,22,7,7 1 197091537 112582 A T 1239 PASS VARTYPE=1;BGN=0.00115949;ARL=225;DER=68;DEA=76;QR=36;QA=37;PBP=635;PBM=615;TYPE=SNP;DBXREF=dbSNP:rs4915337,g1000:0.7825,esp5400:0.7519,ExAC:0.8780,clinvar:rs4915337,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:218211,GnomAD_AN_exome:245720,GnomAD_AC_genome:24437,GnomAD_AN_genome:30908,GnomAD:0.8772;SGVEP=ASPM|-|NM_001206846|14|c.3579T>A|p.(Ser1193:)|synonymous GT:DP:AD:DP4 0/1:89:38,51:20,18,26,25 1 197091808 142647106 T C 173 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=264;DER=17;DEA=81;QR=33;QA=38;PBP=75;PBM=102;SP=0;TYPE=SNP;DBXREF=dbSNP:rs61819088,g1000:0.2129,GnomAD_AC_genome:9692,GnomAD_AN_genome:30868,GnomAD:0.3140;SGVEP=ASPM|-|NM_001206846|14|c.3391-83A>G|.|intronic GT:DP:AD:DP4 0/1:15:8,7:4,4,3,4 1 197109042 112729 C T 361 off_target VARTYPE=1;BGN=0.00115949;ARL=234;DER=59;DEA=52;QR=37;QA=37;PBP=184;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs1332663,g1000:0.7825,esp5400:0.7527,ExAC:0.8750,clinvar:rs1332663,CLNSIG:Likely_benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:212952,GnomAD_AN_exome:239866,GnomAD_AC_genome:24479,GnomAD_AN_genome:30946,GnomAD:0.8767;SGVEP=ASPM|-|NM_001206846|4|c.1922-41G>A|.|intronic GT:DP:AD:DP4 0/1:40:24,16:12,12,8,8 1 197112533 112831 G A 672 PASS VARTYPE=1;BGN=0.000965875;ARL=234;DER=111;DEA=102;QR=36;QA=38;PBP=343;PBM=337;TYPE=SNP;DBXREF=dbSNP:rs6677082,g1000:0.7556,esp5400:0.7281,ExAC:0.8690,clinvar:rs6677082,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:216799,GnomAD_AN_exome:246080,GnomAD_AC_genome:23777,GnomAD_AN_genome:30918,GnomAD:0.8685;SGVEP=ASPM|-|NM_001206846|3|c.849C>T|p.(Ser283:)|synonymous GT:DP:AD:DP4 0/1:60:32,28:15,17,14,14 1 197113073 112868 G A 378 off_target VARTYPE=1;BGN=0.0013919;ARL=216;DER=61;DEA=41;QR=37;QA=36;PBP=192;PBM=192;TYPE=SNP;DBXREF=dbSNP:rs1571964,g1000:0.7556,esp5400:0.7273,ExAC:0.8680,clinvar:rs1571964,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:214118,GnomAD_AN_exome:243122,GnomAD_AC_genome:23751,GnomAD_AN_genome:30870,GnomAD:0.8682;SGVEP=ASPM|-|NM_001206846|2|c.441+14C>T|.|intronic GT:DP:AD:DP4 0/1:52:34,18:17,17,9,9 1 197144383 142656441 T G 110 low_coverage;off_target VARTYPE=1;BGN=0.00240792;ARL=278;DER=22;DEA=20;QR=34;QA=33;PBP=45;PBM=69;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10801593,g1000:0.7502,GnomAD_AC_genome:23079,GnomAD_AN_genome:30560,GnomAD:0.7552;SGVEP=ZBTB41|-|NM_194314|8|c.1880-138A>C|.|intronic GT:DP:AD:DP4 0/1:9:4,5:2,2,2,3 1 197297540 112905 A T 161 off_target VARTYPE=1;BGN=0.00115949;ARL=218;DER=42;DEA=62;QR=36;QA=37;PBP=83;PBM=84;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12042179,g1000:0.4032,esp5400:0.2827,ExAC:0.4350,clinvar:rs12042179,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:108268,GnomAD_AN_exome:241858,GnomAD_AC_genome:11383,GnomAD_AN_genome:30880,GnomAD:0.4387;SGVEP=CRB1|+|NM_001193640|2|c.71-12A>T|.|intronic GT:DP:AD:DP4 0/1:35:27,8:14,13,4,4 1 197316435 142673829 T C 1667 off_target VARTYPE=1;BGN=0.00115949;ARL=247;DEA=59;QA=37;PBP=879;PBM=791;TYPE=SNP;DBXREF=dbSNP:rs1337167,g1000:0.8393,esp5400:0.8315,ExAC:0.8180,clinvar:rs1337167,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:200852,GnomAD_AN_exome:246016,GnomAD_AC_genome:25533,GnomAD_AN_genome:30900,GnomAD:0.8175;SGVEP=CRB1|+|NM_001193640|3|c.653-9526T>C|.|intronic GT:DP:AD:DP4 1/1:57:0,57:0,0,30,27 1 197325908 142675240 T G 499 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=264;DEA=48;QA=37;PBP=264;PBM=235;TYPE=SNP;DBXREF=dbSNP:rs2786098,g1000:0.8427,GnomAD_AC_genome:25761,GnomAD_AN_genome:30946,GnomAD:0.8325;SGVEP=CRB1|+|NM_001193640|3|c.653-53T>G|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 1 197390368 112976 A G 2482 PASS VARTYPE=1;BGN=0.00115949;ARL=230;DEA=94;QA=37;PBP=1288;PBM=1200;TYPE=SNP;DBXREF=dbSNP:rs3902057,g1000:0.9197,esp5400:0.9214,ExAC:0.9780,clinvar:rs3902057,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:241879,GnomAD_AN_exome:246226,GnomAD_AC_genome:28925,GnomAD_AN_genome:30972,GnomAD:0.9769;SGVEP=CRB1|+|NM_001193640|4|c.1074A>G|p.(Leu358:)|synonymous GT:DP:AD:DP4 1/1:85:0,85:0,0,44,41 1 198671786 142843867 C T 319 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=272;DER=49;DEA=21;QR=38;QA=37;PBP=134;PBM=190;TYPE=SNP;DBXREF=dbSNP:rs146082157,g1000:0.0012,GnomAD_AC_genome:87,GnomAD_AN_genome:30970,GnomAD:0.0028;SGVEP=PTPRC|+|NM_002838|6|c.583+127C>T|.|intronic GT:DP:AD:DP4 0/1:16:4,12:2,2,5,7 1 200776500 143106294 T G 1067 PASS VARTYPE=1;BGN=0.00115949;ARL=230;DER=61;DEA=69;QR=36;QA=37;PBP=538;PBM=538;TYPE=SNP;DBXREF=dbSNP:rs79456176,g1000:0.0192,esp5400:0.0376,ExAC:0.0370,GnomAD_AC_exome:7430,GnomAD_AN_exome:190690,GnomAD_AC_genome:1188,GnomAD_AN_genome:30966,GnomAD:0.0389;SGVEP=CAMSAP2|+|NM_001297707|3|c.400-4T>G|.|intronic GT:DP:AD:DP4 0/1:78:34,44:17,17,22,22 1 200824108 143110825 C T 214 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=255;DER=30;DEA=48;QR=38;QA=38;PBP=109;PBM=109;TYPE=SNP;DBXREF=dbSNP:rs2275193,g1000:0.1579,GnomAD_AC_genome:4449,GnomAD_AN_genome:30940,GnomAD:0.1438;SGVEP=CAMSAP2|+|NM_001297707|15|c.3929+91C>T|.|intronic GT:DP:AD:DP4 0/1:12:4,8:2,2,4,4 1 200826395 143111072 A T 362 off_target VARTYPE=1;BGN=0.000965875;ARL=226;DER=25;DEA=57;QR=37;QA=38;PBP=197;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs2292095,g1000:0.1538,esp5400:0.1317,ExAC:0.1220,GnomAD_AC_exome:28893,GnomAD_AN_exome:233740,GnomAD_AC_genome:4361,GnomAD_AN_genome:30926,GnomAD:0.1256;SGVEP=CAMSAP2|+|NM_001297707|17|c.4046-39A>T|.|intronic GT:DP:AD:DP4 0/1:33:18,15:9,9,8,7 1 201009897 143144089 T C 645 off_target VARTYPE=1;BGN=0.00115949;ARL=218;DEA=29;QA=37;PBP=323;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs6427875,g1000:0.9970,esp5400:0.9907,GnomAD_AC_genome:30781,GnomAD_AN_genome:30938,GnomAD:0.9949;SGVEP=CACNA1S|-|NM_000069|42|c.5135-56A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 1 201020105 113229 A G 2010 off_target VARTYPE=1;BGN=0.000965875;ARL=229;DEA=70;QA=38;PBP=1022;PBM=992;TYPE=SNP;DBXREF=dbSNP:rs6702590,g1000:0.8804,esp5400:0.7589,ExAC:0.7700,clinvar:rs6702590,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:190574,GnomAD_AN_exome:246216,GnomAD_AC_genome:24280,GnomAD_AN_genome:30874,GnomAD:0.7754;SGVEP=CACNA1S|-|NM_000069|33|c.4113+7T>C|.|intronic GT:DP:AD:DP4 1/1:67:0,67:0,0,34,33 1 201029939 143146547 T C 653 PASS VARTYPE=1;BGN=0.00115949;ARL=211;DER=88;DEA=50;QR=37;QA=37;PBP=332;PBM=329;TYPE=SNP;DBXREF=dbSNP:rs34515088,g1000:0.0046,esp5400:0.0096,ExAC:0.0088,clinvar:rs34515088,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:2183,GnomAD_AN_exome:246246,GnomAD_AC_genome:257,GnomAD_AN_genome:30952,GnomAD:0.0088;SGVEP=CACNA1S|-|NM_000069|26|c.3261A>G|p.(Gln1087:)|synonymous GT:DP:AD:DP4 0/1:59:31,28:15,16,14,14 1 201031307 143146742 A C 628 off_target VARTYPE=1;BGN=0.0013919;ARL=276;DEA=68;QA=36;PBP=285;PBM=343;TYPE=SNP;DBXREF=dbSNP:rs2297903,g1000:0.6124,GnomAD_AC_genome:15911,GnomAD_AN_genome:30686,GnomAD:0.5185;SGVEP=CACNA1S|-|NM_000069|24|c.2907-89T>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,10,12 1 201038687 143147370 A G 2296 PASS VARTYPE=1;BGN=0.00115949;ARL=222;DER=90;DEA=104;QR=36;QA=37;PBP=1119;PBM=1197;TYPE=SNP;DBXREF=dbSNP:rs7415038,g1000:0.2941,esp5400:0.4730,ExAC:0.3030,clinvar:rs7415038,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:57264,GnomAD_AN_exome:172774,GnomAD_AC_genome:12595,GnomAD_AN_genome:30848,GnomAD:0.3431;SGVEP=CACNA1S|-|NM_000069|18|c.2403T>C|p.(Phe801:)|synonymous GT:DP:AD:DP4 0/1:244:141,103:71,70,50,53 1 201043845 143148510 ACT A 310 off_target VARTYPE=1;BGN=0.000965875;ARL=260;DER=18;DEA=46;QR=36;QA=74;PBP=130;PBM=186;TYPE=INDEL;DBXREF=dbSNP:rs373486562,g1000:0.7584,GnomAD_AC_genome:22172,GnomAD_AN_genome:30744,GnomAD:0.7212;SGVEP=CACNA1S|-|NM_000069|14|c.1949-99_1949-98del|.|intronic GT:DP:AD:DP4 0/1:20:8,12:4,4,5,7 1 201044748 143148749 A G 840 PASS VARTYPE=1;BGN=0.00115949;ARL=225;DER=85;DEA=79;QR=36;QA=37;PBP=408;PBM=441;TYPE=SNP;DBXREF=dbSNP:rs1998721,g1000:0.7596,esp5400:0.6999,ExAC:0.7810,clinvar:rs1998721,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:192537,GnomAD_AN_exome:246214,GnomAD_AC_genome:22340,GnomAD_AN_genome:30924,GnomAD:0.7753;SGVEP=CACNA1S|-|NM_000069|13|c.1828-5T>C|.|intronic GT:DP:AD:DP4 0/1:98:60,38:26,34,18,20 1 201046379 143149160 T G 300 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=266;DER=41;DEA=38;QR=35;QA=36;PBP=130;PBM=175;TYPE=SNP;DBXREF=dbSNP:rs925060,g1000:0.7196,GnomAD_AC_genome:21939,GnomAD_AN_genome:30788,GnomAD:0.7126;SGVEP=CACNA1S|-|NM_000069|12|c.1620-124A>C|.|intronic GT:DP:AD:DP4 0/1:18:6,12:2,4,5,7 1 201046388 143149162 A G 220 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=271;DER=32;DEA=40;QR=35;QA=36;PBP=76;PBM=148;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6672094,g1000:0.8425,GnomAD_AC_genome:24738,GnomAD_AN_genome:30788,GnomAD:0.8035;SGVEP=CACNA1S|-|NM_000069|12|c.1620-133T>C|.|intronic GT:DP:AD:DP4 0/1:15:6,9:2,4,3,6 1 201047075 143149365 A G 1549 PASS VARTYPE=1;BGN=0.00115949;ARL=221;DER=85;DEA=90;QR=36;QA=37;PBP=759;PBM=805;TYPE=SNP;DBXREF=dbSNP:rs4915477,g1000:0.5711,esp5400:0.7369,ExAC:0.5840,clinvar:rs4915477,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:142454,GnomAD_AN_exome:246064,GnomAD_AC_genome:20550,GnomAD_AN_genome:30898,GnomAD:0.5885;SGVEP=CACNA1S|-|NM_000069|11|c.1551T>C|p.(Gly517:)|synonymous GT:DP:AD:DP4 0/1:187:116,71:63,53,35,36 1 201047111 143149401 A G 1736 PASS VARTYPE=1;BGN=0.00115949;ARL=218;DER=95;DEA=108;QR=37;QA=37;PBP=847;PBM=905;TYPE=SNP;DBXREF=dbSNP:rs9427714,g1000:0.1270,esp5400:0.2745,ExAC:0.2450,clinvar:rs9427714,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:59495,GnomAD_AN_exome:246198,GnomAD_AC_genome:7102,GnomAD_AN_genome:30926,GnomAD:0.2403;SGVEP=CACNA1S|-|NM_000069|11|c.1515T>C|p.(Cys505:)|synonymous GT:DP:AD:DP4 0/1:214:134,80:69,65,39,41 1 201052310 143150355 A T 961 PASS VARTYPE=1;BGN=0.00115949;ARL=231;DER=85;DEA=63;QR=36;QA=37;PBP=486;PBM=486;TYPE=SNP;DBXREF=dbSNP:rs12742169,g1000:0.1272,esp5400:0.2728,ExAC:0.2430,PhyloP:1.7860,SIFT:0.7860,PolyPhen2:0.4660,PolyPhen2_HumDiv:0.8350,LRT:0.3160,MutationTaster:0.0000,GERP:3.3900,clinvar:rs12742169,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:59021,GnomAD_AN_exome:245846,GnomAD_AC_genome:6980,GnomAD_AN_genome:30846,GnomAD:0.2385;SGVEP=CACNA1S|-|NM_000069|10|c.1373T>A|p.(Leu458His)|missense GT:DP:AD:DP4 0/1:118:74,44:37,37,22,22 1 201052312 143150359 A C 953 PASS VARTYPE=1;BGN=0.00115949;ARL=231;DER=85;DEA=65;QR=37;QA=37;PBP=482;PBM=482;TYPE=SNP;DBXREF=dbSNP:rs12742170,g1000:0.1272,esp5400:0.2728,ExAC:0.2430,clinvar:rs12742170,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:59022,GnomAD_AN_exome:245848,GnomAD_AC_genome:6982,GnomAD_AN_genome:30852,GnomAD:0.2385;SGVEP=CACNA1S|-|NM_000069|10|c.1371T>G|p.(Pro457:)|synonymous GT:DP:AD:DP4 0/1:122:78,44:39,39,22,22 1 201052474 143150489 T C 1067 off_target VARTYPE=1;BGN=0.0013919;ARL=223;DER=44;DEA=57;QR=37;QA=36;PBP=519;PBM=558;TYPE=SNP;DBXREF=dbSNP:rs12724643,g1000:0.1272,esp5400:0.2729,ExAC:0.2440,GnomAD_AC_exome:59306,GnomAD_AN_exome:245926,GnomAD_AC_genome:7080,GnomAD_AN_genome:30918,GnomAD:0.2398;SGVEP=CACNA1S|-|NM_000069|10|c.1233-24A>G|.|intronic GT:DP:AD:DP4 0/1:104:56,48:26,30,23,25 1 201052562 143150527 G T 169 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=263;DER=1;DEA=38;QR=31;QA=35;PBP=99;PBM=73;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12743065,g1000:0.1272,GnomAD_AC_genome:7080,GnomAD_AN_genome:30920,GnomAD:0.2290;SGVEP=CACNA1S|-|NM_000069|10|c.1233-112C>A|.|intronic GT:DP:AD:DP4 0/1:11:4,7:2,2,4,3 1 201058692 143151879 T C 404 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=250;DER=58;DEA=33;QR=37;QA=37;PBP=162;PBM=247;TYPE=SNP;DBXREF=dbSNP:rs2296384,g1000:0.5218,GnomAD_AC_genome:17837,GnomAD_AN_genome:30900,GnomAD:0.5772;SGVEP=CACNA1S|-|NM_000069|6|c.695-101A>G|.|intronic GT:DP:AD:DP4 1/1:19:4,15:2,2,6,9 1 201060865 143152267 G A 784 PASS VARTYPE=1;BGN=0.00115949;ARL=212;DER=93;DEA=84;QR=38;QA=37;PBP=385;PBM=408;TYPE=SNP;DBXREF=dbSNP:rs2296383,g1000:0.3051,esp5400:0.3282,ExAC:0.3880,clinvar:rs2296383,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:95906,GnomAD_AN_exome:245934,GnomAD_AC_genome:10048,GnomAD_AN_genome:30906,GnomAD:0.3827;SGVEP=CACNA1S|-|NM_000069|5|c.597C>T|p.(Ile199:)|synonymous GT:DP:AD:DP4 0/1:86:51,35:25,26,17,18 1 201079458 143154688 T A 1157 off_target VARTYPE=1;BGN=0.00115949;ARL=227;DER=46;DEA=50;QR=33;QA=37;PBP=558;PBM=608;TYPE=SNP;DBXREF=dbSNP:rs1325309,g1000:0.5715,GnomAD_AC_genome:14487,GnomAD_AN_genome:30880,GnomAD:0.4691;SGVEP=CACNA1S|-|NM_000069|2|c.153-61A>T|.|intronic GT:DP:AD:DP4 0/1:71:25,46:12,13,22,24 1 201285759 143179957 A G 1609 PASS VARTYPE=1;BGN=0.00115949;ARL=219;DEA=82;QA=37;PBP=820;PBM=791;TYPE=SNP;DBXREF=dbSNP:rs1779297,g1000:0.9694,esp5400:0.9651,ExAC:0.9890,GnomAD_AC_exome:242885,GnomAD_AN_exome:245244,GnomAD_AC_genome:30038,GnomAD_AN_genome:30940,GnomAD:0.9882;SGVEP=PKP1|+|NM_000299|4|c.780A>G|p.(Lys260:)|synonymous GT:DP:AD:DP4 1/1:55:0,55:0,0,28,27 1 201286628 143180079 C G 656 off_target VARTYPE=1;BGN=0.0013919;ARL=247;DEA=59;QA=36;PBP=343;PBM=314;TYPE=SNP;DBXREF=dbSNP:rs1772823,g1000:0.7935,GnomAD_AC_genome:24666,GnomAD_AN_genome:30704,GnomAD:0.8033;SGVEP=PKP1|+|NM_000299|5|c.847-72C>G|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,12,11 1 201288007 143180357 G A 586 off_target VARTYPE=1;BGN=0.00115949;ARL=265;DEA=49;QA=37;PBP=264;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs1794868,g1000:0.7937,GnomAD_AC_genome:24840,GnomAD_AN_genome:30884,GnomAD:0.8043;SGVEP=PKP1|+|NM_000299|6|c.1232+84G>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,9,11 1 201288898 143180452 A C 514 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=238;DEA=40;QA=36;PBP=285;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs1722759,g1000:0.9894,esp5400:0.9873,ExAC:0.9960,GnomAD_AC_exome:244135,GnomAD_AN_exome:244988,GnomAD_AC_genome:30604,GnomAD_AN_genome:30932,GnomAD:0.9957;SGVEP=PKP1|+|NM_000299|7|c.1233-46A>C|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,10,8 1 201291066 143181124 C T 1549 off_target VARTYPE=1;BGN=0.0013919;ARL=249;DEA=58;QA=36;PBP=812;PBM=742;TYPE=SNP;DBXREF=dbSNP:rs2071960,g1000:0.6286,esp5400:0.6019,ExAC:0.6750,GnomAD_AC_exome:165474,GnomAD_AN_exome:242608,GnomAD_AC_genome:19189,GnomAD_AN_genome:30806,GnomAD:0.6754;SGVEP=PKP1|+|NM_000299|9|c.1411-40C>T|.|intronic GT:DP:AD:DP4 1/1:56:0,55:0,0,29,26 1 201292110 143181349 T C 1551 off_target VARTYPE=1;BGN=0.00115949;ARL=242;DEA=38;QA=37;PBP=791;PBM=762;TYPE=SNP;DBXREF=dbSNP:rs1779288,g1000:0.9894,esp5400:0.9877,ExAC:0.9960,GnomAD_AC_exome:244171,GnomAD_AN_exome:245020,GnomAD_AC_genome:30569,GnomAD_AN_genome:30892,GnomAD:0.9958;SGVEP=PKP1|+|NM_000299|10|c.1567-31T>C|.|intronic GT:DP:AD:DP4 1/1:53:0,53:0,0,27,26 1 201293512 143181548 TGGG TGG 764 off_target VARTYPE=1;BGN=0.0168436;ARL=237;DER=33;DEA=48;QR=36;QA=37;HL=3;PBP=412;PBM=355;TYPE=INDEL;DBXREF=dbSNP:rs398074571,g1000:0.5288,ExAC:0.6080,GnomAD_AC_exome:151203,GnomAD_AN_exome:244852,GnomAD_AC_genome:15934,GnomAD_AN_genome:30822,GnomAD:0.6063;SGVEP=PKP1|+|NM_000299|11|c.1744-41del|.|intronic GT:DP:AD:DP4 1/1:45:1,44:1,0,24,20 1 201293970 143181649 C T 440 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=275;DEA=67;QA=37;PBP=264;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs1620046,g1000:0.9445,GnomAD_AC_genome:29264,GnomAD_AN_genome:30918,GnomAD:0.9465;SGVEP=PKP1|+|NM_000299|12|c.1898-99C>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,9,6 1 201293985 143181656 G A 628 off_target VARTYPE=1;BGN=0.0013919;ARL=265;DEA=57;QA=36;PBP=343;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs854505,g1000:0.6867,GnomAD_AC_genome:20486,GnomAD_AN_genome:30842,GnomAD:0.6642;SGVEP=PKP1|+|NM_000299|12|c.1898-84G>A|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,12,10 1 201331554 143185513 T G 645 off_target VARTYPE=1;BGN=0.00115949;ARL=244;DEA=84;QA=37;PBP=323;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs1104859,g1000:0.7422,esp5400:0.7384,ExAC:0.7320,clinvar:rs1104859,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:177153,GnomAD_AN_exome:240864,GnomAD_AC_genome:22657,GnomAD_AN_genome:30866,GnomAD:0.7353;SGVEP=TNNT2|-|NM_000364|13|c.601-404A>C|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 1 201334382 113685 G A 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=225;DEA=99;QA=37;PBP=2075;PBM=2046;TYPE=SNP;DBXREF=dbSNP:rs3729547,g1000:0.6951,esp5400:0.6873,ExAC:0.7190,clinvar:rs3729547,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:178227,GnomAD_AN_exome:246260,GnomAD_AC_genome:21347,GnomAD_AN_genome:30846,GnomAD:0.7202;SGVEP=TNNT2|-|NM_000364|10|c.348C>T|p.(Ile116:)|synonymous GT:DP:AD:DP4 1/1:141:0,141:0,0,71,70 1 201335899 143186205 C T 794 off_target VARTYPE=1;BGN=0.00115949;ARL=234;DEA=63;QA=37;PBP=399;PBM=399;TYPE=SNP;DBXREF=dbSNP:rs1573230,g1000:0.9814,esp5400:0.9814,GnomAD_AC_genome:30311,GnomAD_AN_genome:30894,GnomAD:0.9811;SGVEP=TNNT2|-|NM_000364|8|c.233+67G>A|.|intronic GT:DP:AD:DP4 1/1:30:0,28:0,0,14,14 1 201336984 143186392 C T 263 off_target VARTYPE=1;BGN=0.0013919;ARL=219;DER=39;DEA=66;QR=37;QA=36;PBP=134;PBM=134;TYPE=SNP;DBXREF=dbSNP:rs3729843,g1000:0.2855,esp5400:0.3293,ExAC:0.4130,clinvar:rs3729843,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:103286,GnomAD_AN_exome:246108,GnomAD_AC_genome:10563,GnomAD_AN_genome:30854,GnomAD:0.4111;SGVEP=TNNT2|-|NM_000364|7|c.164-50G>A|.|intronic GT:DP:AD:DP4 0/1:30:18,12:9,9,6,6 1 201337170 143186419 A G 457 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=261;DEA=64;QA=36;PBP=228;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs3729842,g1000:0.8622,GnomAD_AC_genome:26036,GnomAD_AN_genome:30892,GnomAD:0.8428;SGVEP=TNNT2|-|NM_000364|6|c.163+120T>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 1 201338553 143186629 T C 1113 off_target VARTYPE=1;BGN=0.00115949;ARL=226;DEA=50;QA=37;PBP=528;PBM=586;TYPE=SNP;DBXREF=dbSNP:rs10800776,g1000:0.7346,esp5400:0.7288,GnomAD_AC_genome:22529,GnomAD_AN_genome:30876,GnomAD:0.7297;SGVEP=TNNT2|-|NM_000364|5|c.97+391A>G|.|intronic GT:DP:AD:DP4 1/1:38:0,38:0,0,18,20 1 201338586 143186635 A G 557 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=238;DEA=40;QA=37;PBP=293;PBM=264;TYPE=SNP;DBXREF=dbSNP:rs10920183,g1000:0.5192,GnomAD_AC_genome:16553,GnomAD_AN_genome:30872,GnomAD:0.5362;SGVEP=TNNT2|-|NM_000364|5|c.97+358T>C|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,10,9 1 201338896 143186661 T C 1696 off_target VARTYPE=1;BGN=0.00115949;ARL=217;DEA=62;QA=37;PBP=850;PBM=850;TYPE=SNP;DBXREF=dbSNP:rs10920184,g1000:0.5300,esp5400:0.5298,ExAC:0.5970,GnomAD_AC_exome:149469,GnomAD_AN_exome:246188,GnomAD_AC_genome:16795,GnomAD_AN_genome:30876,GnomAD:0.6001;SGVEP=TNNT2|-|NM_000364|5|c.97+48A>G|.|intronic GT:DP:AD:DP4 1/1:58:0,58:0,0,29,29 1 201339043 143186714 C T 1230 off_target VARTYPE=1;BGN=0.00115949;ARL=212;DEA=48;QA=37;PBP=616;PBM=616;TYPE=SNP;DBXREF=dbSNP:rs12049476,g1000:0.5361,esp5400:0.5724,GnomAD_AC_genome:16982,GnomAD_AN_genome:30902,GnomAD:0.5495;SGVEP=TNNT2|-|NM_000364|5|c.68-70G>A|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,21,21 1 201341175 143186915 CAGAAG C 2468 off_target VARTYPE=1;BGN=0.000965875;ARL=225;DEA=108;QA=181;PBP=1262;PBM=1232;TYPE=INDEL;DBXREF=dbSNP:rs45533739,g1000:0.5204,clinvar:rs45533739,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:148322,GnomAD_AN_exome:246028,GnomAD_AC_genome:16189,GnomAD_AN_genome:30590,GnomAD:0.5947;SGVEP=TNNT2|-|NM_000364|4|c.53-11_53-7del|.|intronic GT:DP:AD:DP4 1/1:84:0,83:0,0,42,41 1 201341341 143186985 C T 2558 off_target VARTYPE=1;BGN=0.0013919;ARL=222;DEA=68;QA=36;PBP=1282;PBM=1282;TYPE=SNP;DBXREF=dbSNP:rs868407,g1000:0.7718,esp5400:0.7273,GnomAD_AC_genome:22769,GnomAD_AN_genome:30872,GnomAD:0.7375;SGVEP=TNNT2|-|NM_000364|3|c.42-58G>A|.|intronic GT:DP:AD:DP4 1/1:90:0,90:0,0,45,45 1 202566200 143303704 T C 628 off_target VARTYPE=1;BGN=0.0013919;ARL=285;DEA=56;QA=36;PBP=314;PBM=314;TYPE=SNP;DBXREF=dbSNP:rs9633344,g1000:0.6492,GnomAD_AC_genome:18867,GnomAD_AN_genome:30904,GnomAD:0.6105;SGVEP=SYT2|-|NM_001136504|9|c.1054-109A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 1 202572105 143304448 GCCCCCCC GCCCCC 454 off_target VARTYPE=1;BGN=0.0454771;ARL=244;DER=7;DEA=68;QR=16;QA=72;HL=7;PBP=214;PBM=188;TYPE=INDEL;DBXREF=dbSNP:rs869123261,g1000:0.6368,ExAC:0.6260,GnomAD_AC_exome:153720,GnomAD_AN_exome:238020,GnomAD_AC_genome:18102,GnomAD_AN_genome:29906,GnomAD:0.6413;SGVEP=SYT2|-|NM_001136504|4|c.465+20_465+21del|.|intronic GT:DP:AD:DP4 1/1:34:2,28:2,0,14,14 1 202572107 . C G 139 off_target VARTYPE=1;BGN=0.00200585;ARL=198;DER=5;DEA=5;QR=27;QA=34;PBP=96;PBM=108;SP=3;TYPE=SNP;SGVEP=SYT2|-|NM_001136504|4|c.465+20G>C|.|intronic GT:DP:AD:DP4 0/1:38:2,8:2,0,4,4 1 202574784 143304847 G A 1490 PASS VARTYPE=1;BGN=0.00115949;ARL=208;DER=4;DEA=73;QR=36;QA=37;PBP=748;PBM=748;TYPE=SNP;DBXREF=dbSNP:rs1968583,g1000:0.3588,esp5400:0.4011,ExAC:0.4700,GnomAD_AC_exome:117583,GnomAD_AN_exome:246056,GnomAD_AC_genome:12744,GnomAD_AN_genome:30868,GnomAD:0.4706;SGVEP=SYT2|-|NM_001136504|2|c.117C>T|p.(Ser39:)|synonymous GT:DP:AD:DP4 1/1:54:2,52:1,1,26,26 1 202914356 143341621 T C 132 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=250;DER=37;DEA=19;QR=36;QA=37;PBP=69;PBM=67;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1342387,g1000:0.5359,GnomAD_AC_genome:16555,GnomAD_AN_genome:30914,GnomAD:0.5355;SGVEP=ADIPOR1|-|NM_001290553|5|c.431-59A>G|.|intronic GT:DP:AD:DP4 0/1:19:13,6:6,7,3,3 1 202920300 143342448 A C 116 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=263;DER=39;DEA=69;QR=34;QA=38;PBP=49;PBM=71;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2275737,g1000:0.6362,GnomAD_AC_genome:17804,GnomAD_AN_genome:30660,GnomAD:0.5807;SGVEP=ADIPOR1|-|NM_001290553|2|c.-94-8T>G|.|intronic GT:DP:AD:DP4 0/1:15:10,5:4,6,2,3 1 202920304 143342450 T C 110 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=270;DER=35;DEA=65;QR=36;QA=37;PBP=45;PBM=69;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2275738,g1000:0.6426,GnomAD_AC_genome:17973,GnomAD_AN_genome:30668,GnomAD:0.5861;SGVEP=ADIPOR1|-|NM_001290553|2|c.-94-12A>G|.|intronic GT:DP:AD:DP4 0/1:16:11,5:5,6,2,3 1 203148633 143369156 A G 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=214;DEA=83;QA=37;PBP=1755;PBM=1638;TYPE=SNP;DBXREF=dbSNP:rs4950927,g1000:0.9996,esp5400:0.9980,ExAC:0.9990,PhyloP:-1.8010,MutationTaster:1.0000,GERP:-6.9500,GnomAD_AC_exome:224964,GnomAD_AN_exome:225240,GnomAD_AC_genome:30894,GnomAD_AN_genome:30924,GnomAD:0.9988;SGVEP=CHI3L1|-|NM_001276|10|c.1092T>C|p.(Cys364:)|synonymous GT:DP:AD:DP4 1/1:116:0,116:0,0,60,56 1 203155882 113908 G C 208 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=272;DER=54;DEA=48;QR=38;QA=37;PBP=106;PBM=106;TYPE=SNP;DBXREF=dbSNP:rs4950928,g1000:0.7855,clinvar:rs4950928,CLNSIG:risk_factor,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_genome:23120,GnomAD_AN_genome:30876,GnomAD:0.7488;SGVEP=CHI3L1|-|NM_001276|1|c.-131C>G|.|5'UTR GT:DP:AD:DP4 0/1:12:4,8:2,2,4,4 1 203186950 143373996 C CAGACCATGGCCCCGCCCAGTCCCT 1064 PASS VARTYPE=1;BGN=0.000965875;ARL=217;DER=88;DEA=100;QR=36;QA=880;PBP=542;PBM=533;NVF=0.49;TYPE=INDEL;DBXREF=dbSNP:rs150192398,g1000:0.2891,clinvar:rs150192398,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:5208,GnomAD_AN_genome:30880,GnomAD:0.1687;SGVEP=CHIT1|-|NM_001256125|9|c.992_1015dup|p.(Val338_Trp339ins*)|nonsense GT:DP:AD:DP4 0/1:112:66,46:31,35,23,23 1 203191262 143374682 C G 118 off_target VARTYPE=1;BGN=0.00167091;ARL=252;DER=52;DEA=58;QR=34;QA=35;PBP=59;PBM=64;SP=2;TYPE=SNP;DBXREF=dbSNP:rs2244385,g1000:0.3303,GnomAD_AC_genome:6064,GnomAD_AN_genome:30906,GnomAD:0.1962;SGVEP=CHIT1|-|NM_001256125|6|c.672+68G>C|.|intronic GT:DP:AD:DP4 0/1:22:16,6:10,6,3,3 1 203192448 143374949 GCCCC GCCC 111 off_target VARTYPE=1;BGN=0.0219187;ARL=250;DER=23;DEA=87;QR=36;QA=38;HL=4;PBP=65;PBM=51;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs397827197,g1000:0.3293,GnomAD_AC_genome:5954,GnomAD_AN_genome:30896,GnomAD:0.1927;SGVEP=CHIT1|-|NM_001256125|5|c.424-62del|.|intronic GT:DP:AD:DP4 0/1:28:17,11:8,9,6,5 1 203317162 143388820 C T 2888 PASS VARTYPE=1;BGN=0.00115949;ARL=222;DEA=104;QA=37;PBP=1522;PBM=1376;TYPE=SNP;DBXREF=dbSNP:rs7543148,g1000:0.6184,esp5400:0.6667,ExAC:0.7560,PhyloP:0.6450,SIFT:0.5610,MutationTaster:1.0000,GERP:2.0500,GnomAD_AC_exome:186142,GnomAD_AN_exome:242732,GnomAD_AC_genome:21362,GnomAD_AN_genome:30856,GnomAD:0.7585;SGVEP=FMOD|-|NM_002023|2|c.237G>A|p.(Glu79:)|synonymous GT:DP:AD:DP4 1/1:99:0,99:0,0,52,47 1 203465396 143405909 T C 490 off_target VARTYPE=1;BGN=0.00115949;ARL=245;DER=76;DEA=45;QR=37;QA=37;PBP=209;PBM=288;TYPE=SNP;DBXREF=dbSNP:rs2242199,g1000:0.3852,esp5400:0.3597,ExAC:0.3950,GnomAD_AC_exome:95261,GnomAD_AN_exome:239678,GnomAD_AC_genome:12095,GnomAD_AN_genome:30828,GnomAD:0.3969;SGVEP=OPTC|+|NM_014359|2|c.231+32T>C|.|intronic GT:DP:AD:DP4 0/1:45:24,21:12,12,9,12 1 203652444 143429098 A G 3123 PASS VARTYPE=1;BGN=0.0013919;ARL=202;DEA=78;QA=36;PBP=1538;PBM=1595;TYPE=SNP;DBXREF=dbSNP:rs1419114,g1000:0.8500,esp5400:0.8291,ExAC:0.8760,GnomAD_AC_exome:217276,GnomAD_AN_exome:246234,GnomAD_AC_genome:25463,GnomAD_AN_genome:30942,GnomAD:0.8758;SGVEP=ATP2B4|+|NM_001001396|2|c.111A>G|p.(Ser37:)|synonymous GT:DP:AD:DP4 1/1:110:0,110:0,0,54,56 1 203667409 143430498 T C 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=224;DER=86;DEA=91;QR=10;QA=37;PBP=1726;PBM=1871;TYPE=SNP;DBXREF=dbSNP:rs2228445,g1000:0.8598,esp5400:0.8460,ExAC:0.8800,GnomAD_AC_exome:218089,GnomAD_AN_exome:246172,GnomAD_AC_genome:25890,GnomAD_AN_genome:30902,GnomAD:0.8806;SGVEP=ATP2B4|+|NM_001001396|3|c.318T>C|p.(Leu106:)|synonymous GT:DP:AD:DP4 1/1:123:0,123:0,0,59,64 1 203667536 143430531 A G 226 off_target VARTYPE=1;BGN=0.00115949;ARL=235;DER=38;DEA=27;QR=35;QA=37;PBP=116;PBM=116;TYPE=SNP;DBXREF=dbSNP:rs6676272,g1000:0.3912,GnomAD_AC_genome:8315,GnomAD_AN_genome:30858,GnomAD:0.2695;SGVEP=ATP2B4|+|NM_001001396|3|c.391+54A>G|.|intronic GT:DP:AD:DP4 0/1:26:16,10:8,8,5,5 1 203670128 143430972 A T 139 low_coverage;off_target VARTYPE=1;BGN=0.00200585;ARL=247;DER=22;DEA=45;QR=30;QA=34;PBP=71;PBM=71;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3820197,g1000:0.3652,GnomAD_AC_genome:7338,GnomAD_AN_genome:30860,GnomAD:0.2378;SGVEP=ATP2B4|+|NM_001001396|6|c.901+77A>T|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 1 203673020 143431343 C T 235 off_target VARTYPE=1;BGN=0.00115949;ARL=249;DER=72;DEA=37;QR=37;QA=37;PBP=120;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs72745730,g1000:0.0068,GnomAD_AC_genome:499,GnomAD_AN_genome:30970,GnomAD:0.0161;SGVEP=ATP2B4|+|NM_001001396|8|c.1099+79C>T|.|intronic GT:DP:AD:DP4 0/1:22:12,10:6,6,5,5 1 203679934 143432240 A G 491 off_target VARTYPE=1;BGN=0.000965875;ARL=278;DER=57;DEA=94;QR=36;QA=38;PBP=258;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs2032018,g1000:0.6550,GnomAD_AC_genome:16032,GnomAD_AN_genome:30860,GnomAD:0.5195;SGVEP=ATP2B4|+|NM_001001396|12|c.1800-71A>G|.|intronic GT:DP:AD:DP4 0/1:31:12,19:7,5,10,9 1 203709034 143436935 A G 643 off_target VARTYPE=1;BGN=0.0013919;ARL=246;DER=58;DEA=56;QR=36;QA=36;PBP=298;PBM=352;TYPE=SNP;DBXREF=dbSNP:rs955865,g1000:0.6006,esp5400:0.6152,ExAC:0.5670,GnomAD_AC_exome:117045,GnomAD_AN_exome:199908,GnomAD_AC_genome:17819,GnomAD_AN_genome:30868,GnomAD:0.5844;SGVEP=ATP2B4|+|NM_001001396|22|c.*335A>G|.|3'UTR GT:DP:AD:DP4 0/1:55:27,28:14,13,13,15 1 203709068 143436937 T C 391 off_target VARTYPE=1;BGN=0.00115949;ARL=271;DER=82;DEA=39;QR=34;QA=37;PBP=200;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs955866,g1000:0.6020,GnomAD_AC_genome:17830,GnomAD_AN_genome:30898,GnomAD:0.5771;SGVEP=ATP2B4|+|NM_001001396|22|c.*369T>C|.|3'UTR GT:DP:AD:DP4 0/1:29:13,16:6,7,8,8 1 204128854 143479983 T G 218 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=259;DER=9;DEA=40;QR=38;QA=37;PBP=54;PBM=168;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1464816,g1000:0.7015,GnomAD_AC_genome:20266,GnomAD_AN_genome:30802,GnomAD:0.6579;SGVEP=REN|-|NM_000537|5|c.493-131A>C|.|intronic GT:DP:AD:DP4 1/1:10:2,8:1,1,2,6 1 204130376 143480123 G C 1680 off_target VARTYPE=1;BGN=0.0013919;ARL=248;DEA=59;QA=36;PBP=855;PBM=827;TYPE=SNP;DBXREF=dbSNP:rs2272237,g1000:0.1955,esp5400:0.2570,ExAC:0.2780,GnomAD_AC_exome:56769,GnomAD_AN_exome:200976,GnomAD_AC_genome:8010,GnomAD_AN_genome:30880,GnomAD:0.2794;SGVEP=REN|-|NM_000537|3|c.373+44C>G|.|intronic GT:DP:AD:DP4 1/1:59:0,59:0,0,30,29 1 205739396 143655772 T G 266 off_target VARTYPE=1;BGN=0.00167091;ARL=267;DER=62;DEA=56;QR=38;QA=35;PBP=134;PBM=137;TYPE=SNP;DBXREF=dbSNP:rs823139,g1000:0.7210,GnomAD_AC_genome:24011,GnomAD_AN_genome:30918,GnomAD:0.7766;SGVEP=RAB29|-|NM_001135662|6|c.*74A>C|.|3'UTR GT:DP:AD:DP4 0/1:25:13,12:7,6,6,6 1 205740829 143655927 TCCCC TCCCCC 209 off_target VARTYPE=1;BGN=0.0219187;ARL=219;DER=43;DEA=59;QR=36;QA=38;HL=4;PBP=96;PBM=120;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs150275500,g1000:0.0507,ExAC:0.0570,GnomAD_AC_exome:13748,GnomAD_AN_exome:243258,GnomAD_AC_genome:1876,GnomAD_AN_genome:30930,GnomAD:0.0570;SGVEP=RAB29|-|NM_001135662|4|c.197-49dupG|.|intronic GT:DP:AD:DP4 0/1:45:25,20:12,13,9,11 1 205764640 143657263 G A 2558 off_target VARTYPE=1;BGN=0.0013919;ARL=226;DEA=53;QA=36;PBP=1225;PBM=1339;TYPE=SNP;DBXREF=dbSNP:rs823156,g1000:0.6492,esp5400:0.6812,ExAC:0.7670,GnomAD_AC_exome:188940,GnomAD_AN_exome:244366,GnomAD_AC_genome:21786,GnomAD_AN_genome:30888,GnomAD:0.7656;SGVEP=SLC41A1|-|NM_173854|9|c.1073-34C>T|.|intronic GT:DP:AD:DP4 1/1:90:0,90:0,0,43,47 1 205766159 143658649 CAAA CAA 640 off_target VARTYPE=1;BGN=0.0168436;ARL=227;DER=43;DEA=55;QR=34;QA=35;HL=3;PBP=305;PBM=340;TYPE=INDEL;DBXREF=dbSNP:rs397982731,g1000:0.7238,ExAC:0.8260,GnomAD_AC_exome:193275,GnomAD_AN_exome:231418,GnomAD_AC_genome:24738,GnomAD_AN_genome:30870,GnomAD:0.8312;SGVEP=SLC41A1|-|NM_173854|8|c.993-29del|.|intronic GT:DP:AD:DP4 1/1:46:6,40:3,3,19,21 1 205768309 143659184 C T 477 off_target VARTYPE=1;BGN=0.00115949;ARL=263;DER=11;DEA=55;QR=35;QA=37;PBP=213;PBM=269;TYPE=SNP;DBXREF=dbSNP:rs4396169,g1000:0.2877,GnomAD_AC_genome:7780,GnomAD_AN_genome:30850,GnomAD:0.2522;SGVEP=SLC41A1|-|NM_173854|5|c.553-80G>A|.|intronic GT:DP:AD:DP4 0/1:24:6,18:3,3,8,10 1 205779231 143660892 G A 1316 PASS VARTYPE=1;BGN=0.00115949;ARL=230;DER=81;DEA=67;QR=36;QA=37;PBP=715;PBM=612;TYPE=SNP;DBXREF=dbSNP:rs11240569,g1000:0.2766,esp5400:0.2085,ExAC:0.2950,GnomAD_AC_exome:71899,GnomAD_AN_exome:245748,GnomAD_AC_genome:7431,GnomAD_AN_genome:30922,GnomAD:0.2867;SGVEP=SLC41A1|-|NM_173854|2|c.339C>T|p.(Thr113:)|synonymous GT:DP:AD:DP4 0/1:111:55,56:28,27,30,26 1 205884062 143669815 T C 561 PASS VARTYPE=1;BGN=0.000965875;ARL=241;DER=82;DEA=96;QR=37;QA=38;PBP=287;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs9438438,g1000:0.0701,esp5400:0.1128,ExAC:0.0760,clinvar:rs9438438,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:18220,GnomAD_AN_exome:245950,GnomAD_AC_genome:3006,GnomAD_AN_genome:30932,GnomAD:0.0767;SGVEP=SLC26A9|-|NM_134325|22|c.2622A>G|p.(Pro874:)|synonymous GT:DP:AD:DP4 0/1:58:34,24:16,18,12,12 1 205884274 143669983 T C 536 PASS VARTYPE=1;BGN=0.00115949;ARL=228;DER=78;DEA=117;QR=36;QA=37;PBP=280;PBM=265;TYPE=SNP;DBXREF=dbSNP:rs6669481,g1000:0.1542,esp5400:0.2035,ExAC:0.1050,PhyloP:-0.2100,SIFT:1.0000,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0020,LRT:0.0000,MutationTaster:0.0000,GERP:0.7140,clinvar:rs6669481,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:24263,GnomAD_AN_exome:245242,GnomAD_AC_genome:5534,GnomAD_AN_genome:30790,GnomAD:0.1079;SGVEP=SLC26A9|-|NM_134325|22|c.2410A>G|p.(Arg804Gly)|missense GT:DP:AD:DP4 0/1:61:37,24:15,22,12,12 1 205884646 143670293 C CTG 158 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=275;DER=29;DEA=75;QR=27;QA=75;PBP=50;PBM=114;SP=3;TYPE=INDEL;DBXREF=dbSNP:rs113527464,GnomAD_AC_genome:6820,GnomAD_AN_genome:26844,GnomAD:0.2541;SGVEP=SLC26A9|-|NM_052934|21|c.2329-116_2329-115dup|.|intronic GT:DP:AD:DP4 0/1:10:1,6:1,0,2,4 1 205887981 143670745 T C 427 PASS VARTYPE=1;BGN=0.00115949;ARL=220;DER=64;DEA=86;QR=36;QA=37;PBP=217;PBM=217;TYPE=SNP;DBXREF=dbSNP:rs16856462,g1000:0.0763,esp5400:0.1133,ExAC:0.0740,PhyloP:-4.5270,SIFT:0.3420,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0280,MutationTaster:0.0000,GERP:-10.2000,clinvar:rs16856462,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:17632,GnomAD_AN_exome:246200,GnomAD_AC_genome:2899,GnomAD_AN_genome:30944,GnomAD:0.0741;SGVEP=SLC26A9|-|NM_052934|19|c.2243A>G|p.(His748Arg)|missense GT:DP:AD:DP4 0/1:62:42,20:21,21,10,10 1 205890679 143671397 T C 1765 off_target VARTYPE=1;BGN=0.0013919;ARL=208;DEA=46;QA=36;PBP=941;PBM=827;TYPE=SNP;DBXREF=dbSNP:rs12759719,g1000:0.9141,esp5400:0.9028,ExAC:0.9120,clinvar:rs12759719,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:209965,GnomAD_AN_exome:229382,GnomAD_AC_genome:27962,GnomAD_AN_genome:30882,GnomAD:0.9142;SGVEP=SLC26A9|-|NM_052934|17|c.2055+15A>G|.|intronic GT:DP:AD:DP4 1/1:62:0,62:0,0,33,29 1 205896475 143673006 C T 1084 off_target VARTYPE=1;BGN=0.00115949;ARL=248;DEA=65;QA=37;PBP=557;PBM=528;TYPE=SNP;DBXREF=dbSNP:rs7366204,g1000:0.8706,esp5400:0.8782,GnomAD_AC_genome:27224,GnomAD_AN_genome:30902,GnomAD:0.8810;SGVEP=SLC26A9|-|NM_052934|11|c.1216-59G>A|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,19,18 1 205896948 143673210 A G 791 off_target VARTYPE=1;BGN=0.00115949;ARL=263;DEA=71;QA=37;PBP=411;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs3811424,g1000:0.5236,GnomAD_AC_genome:18646,GnomAD_AN_genome:30852,GnomAD:0.6044;SGVEP=SLC26A9|-|NM_052934|9|c.1101+82T>C|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,14,13 1 206680983 143714770 A C 2946 PASS VARTYPE=1;BGN=0.00115949;ARL=194;DEA=93;QA=37;PBP=1522;PBM=1434;TYPE=SNP;DBXREF=dbSNP:rs2095124,g1000:0.9537,esp5400:0.8913,ExAC:0.8360,GnomAD_AC_exome:112723,GnomAD_AN_exome:130058,GnomAD_AC_genome:26839,GnomAD_AN_genome:30820,GnomAD:0.8675;SGVEP=RASSF5|+|NM_182663|1|c.48A>C|p.(Leu16:)|synonymous GT:DP:AD:DP4 1/1:101:0,101:0,0,52,49 1 206758077 143722719 T A 571 off_target VARTYPE=1;BGN=0.0013919;ARL=277;DEA=52;QA=36;PBP=228;PBM=343;TYPE=SNP;DBXREF=dbSNP:rs4418597,g1000:0.7274,ExAC:0.7710,GnomAD_AC_exome:166278,GnomAD_AN_exome:214402,GnomAD_AC_genome:24671,GnomAD_AN_genome:30870,GnomAD:0.7785;SGVEP=RASSF5|+|NM_182663|4|c.988+61T>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,8,12 1 206941864 143745267 A G 293 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=245;DEA=35;QA=37;PBP=147;PBM=147;TYPE=SNP;DBXREF=dbSNP:rs3024496,g1000:0.2877,GnomAD_AC_genome:12932,GnomAD_AN_genome:30812,GnomAD:0.4197;SGVEP=IL10|-|NM_000572|5|c.*117T>C|.|3'UTR GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 206943351 143745412 T C 762 off_target VARTYPE=1;BGN=0.00115949;ARL=260;DEA=40;QA=37;PBP=381;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs3024494,g1000:0.9768,GnomAD_AC_genome:30247,GnomAD_AN_genome:30956,GnomAD:0.9771;SGVEP=IL10|-|NM_000572|4|c.379-112A>G|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,13,13 1 206944233 143745496 A G 2656 off_target VARTYPE=1;BGN=0.00115949;ARL=228;DEA=56;QA=37;PBP=1376;PBM=1288;TYPE=SNP;DBXREF=dbSNP:rs1554286,g1000:0.5919,esp5400:0.7489,ExAC:0.7170,GnomAD_AC_exome:176820,GnomAD_AN_exome:245904,GnomAD_AC_genome:22307,GnomAD_AN_genome:30834,GnomAD:0.7196;SGVEP=IL10|-|NM_000572|3|c.378+19T>C|.|intronic GT:DP:AD:DP4 1/1:91:0,91:0,0,47,44 1 206944645 143745577 T C 895 off_target VARTYPE=1;BGN=0.0013919;ARL=214;DER=72;DEA=69;QR=37;QA=36;PBP=472;PBM=432;TYPE=SNP;DBXREF=dbSNP:rs1518111,g1000:0.5731,esp5400:0.7446,GnomAD_AC_genome:21713,GnomAD_AN_genome:30830,GnomAD:0.7043;SGVEP=IL10|-|NM_000572|2|c.225+56A>G|.|intronic GT:DP:AD:DP4 0/1:108:66,42:35,31,22,20 1 206944861 143745626 A C 184 off_target VARTYPE=1;BGN=0.00115949;ARL=253;DER=44;DEA=41;QR=38;QA=37;PBP=94;PBM=94;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1518110,g1000:0.5743,GnomAD_AC_genome:21508,GnomAD_AN_genome:30582,GnomAD:0.7033;SGVEP=IL10|-|NM_000572|2|c.166-101T>G|.|intronic GT:DP:AD:DP4 0/1:20:12,8:6,6,4,4 1 207109116 143761042 C T 789 PASS VARTYPE=1;BGN=0.00167091;ARL=235;DER=99;DEA=68;QR=35;QA=35;PBP=375;PBM=422;TYPE=SNP;DBXREF=dbSNP:rs2275531,g1000:0.2963,esp5400:0.3735,ExAC:0.3790,PhyloP:1.3520,SIFT:0.8800,PolyPhen2:1.0000,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:0.6430,GERP:4.6400,GnomAD_AC_exome:92401,GnomAD_AN_exome:242356,GnomAD_AC_genome:11618,GnomAD_AN_genome:30842,GnomAD:0.3807;SGVEP=PIGR|-|NM_002644|5|c.1093G>A|p.(Gly365Ser)|missense GT:DP:AD:DP4 0/1:73:37,36:18,19,17,19 1 207109167 143761065 G A 408 PASS VARTYPE=1;BGN=0.00115949;ARL=239;DER=84;DEA=68;QR=37;QA=37;PBP=182;PBM=233;TYPE=SNP;DBXREF=dbSNP:rs6695632,g1000:0.2867,esp5400:0.3569,ExAC:0.3720,GnomAD_AC_exome:86420,GnomAD_AN_exome:228420,GnomAD_AC_genome:11288,GnomAD_AN_genome:30862,GnomAD:0.3768;SGVEP=PIGR|-|NM_002644|5|c.1046-4C>T|.|intronic GT:DP:AD:DP4 0/1:44:25,18:12,13,8,10 1 207110363 143761178 A G 265 off_target VARTYPE=1;BGN=0.00115949;ARL=244;DER=45;DEA=52;QR=33;QA=37;PBP=158;PBM=112;TYPE=SNP;DBXREF=dbSNP:rs748140,g1000:0.2915,GnomAD_AC_genome:11171,GnomAD_AN_genome:30840,GnomAD:0.3622;SGVEP=PIGR|-|NM_002644|4|c.1045+77T>C|.|intronic GT:DP:AD:DP4 0/1:34:20,12:11,9,7,5 1 207110936 143761361 T C 640 PASS VARTYPE=1;BGN=0.0013919;ARL=238;DER=113;DEA=59;QR=37;QA=36;PBP=326;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs291096,g1000:0.5509,esp5400:0.6001,ExAC:0.4740,GnomAD_AC_exome:115391,GnomAD_AN_exome:245254,GnomAD_AC_genome:17605,GnomAD_AN_genome:30890,GnomAD:0.4816;SGVEP=PIGR|-|NM_002644|4|c.549A>G|p.(Val183:)|synonymous GT:DP:AD:DP4 0/1:78:48,30:23,25,15,15 1 207113755 143761723 G C 436 off_target VARTYPE=1;BGN=0.00115949;ARL=243;DER=58;DEA=58;QR=36;QA=37;PBP=233;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs2007272,g1000:0.2897,esp5400:0.3881,GnomAD_AC_genome:11140,GnomAD_AN_genome:30852,GnomAD:0.3611;SGVEP=PIGR|-|NM_002644|2|c.43+79C>G|.|intronic GT:DP:AD:DP4 0/1:44:25,19:13,12,10,9 1 207504669 143801137 G A 1084 off_target VARTYPE=1;BGN=0.00115949;ARL=222;DEA=51;QA=37;PBP=528;PBM=557;TYPE=SNP;DBXREF=dbSNP:rs2184476,g1000:0.6214,esp5400:0.7055,ExAC:0.6670,GnomAD_AC_exome:161710,GnomAD_AN_exome:241282,GnomAD_AC_genome:21196,GnomAD_AN_genome:30862,GnomAD:0.6721;SGVEP=CD55|+|NM_000574|6|c.853+28G>A|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,18,19 1 207510289 143801908 T C 351 low_coverage;off_target VARTYPE=1;BGN=0.00200585;ARL=277;DEA=30;QA=34;PBP=162;PBM=189;TYPE=SNP;DBXREF=dbSNP:rs2490257,g1000:0.9940,GnomAD_AC_genome:30763,GnomAD_AN_genome:30950,GnomAD:0.9940;SGVEP=CD55|+|NM_000574|7|c.979+126T>C|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 1 207627693 143815141 T C 820 off_target VARTYPE=1;BGN=0.00115949;ARL=208;DEA=28;QA=37;PBP=499;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs3813946,g1000:0.1308,esp5400:0.1598,GnomAD_AC_genome:4671,GnomAD_AN_genome:30902,GnomAD:0.1512;SGVEP=CR2|+|NM_001006658|1|c.-71T>C|.|5'UTR GT:DP:AD:DP4 1/1:28:0,28:0,0,17,11 1 207641840 143816620 C T 1317 off_target VARTYPE=1;BGN=0.00115949;ARL=219;DEA=46;QA=37;PBP=645;PBM=674;TYPE=SNP;DBXREF=dbSNP:rs2063143,g1000:0.1320,esp5400:0.1689,ExAC:0.1700,GnomAD_AC_exome:41305,GnomAD_AN_exome:244228,GnomAD_AC_genome:4686,GnomAD_AN_genome:30878,GnomAD:0.1672;SGVEP=CR2|+|NM_001006658|3|c.446-32C>T|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,22,23 1 207642295 143816771 G A 799 off_target VARTYPE=1;BGN=0.0013919;ARL=258;DEA=103;QA=36;PBP=371;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs1507764,g1000:0.1613,esp5400:0.1948,ExAC:0.1760,GnomAD_AC_exome:42479,GnomAD_AN_exome:242808,GnomAD_AC_genome:5347,GnomAD_AN_genome:30942,GnomAD:0.1747;SGVEP=CR2|+|NM_001006658|4|c.734+51G>A|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,13,15 1 207646322 143817449 G A 1638 PASS VARTYPE=1;BGN=0.00115949;ARL=238;DEA=94;QA=37;PBP=820;PBM=820;TYPE=SNP;DBXREF=dbSNP:rs1048971,g1000:0.4004,esp5400:0.4690,ExAC:0.3500,clinvar:rs1048971,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:82680,GnomAD_AN_exome:245930,GnomAD_AC_genome:13129,GnomAD_AN_genome:30868,GnomAD:0.3461;SGVEP=CR2|+|NM_001006658|10|c.1776G>A|p.(Leu592:)|synonymous GT:DP:AD:DP4 1/1:56:0,56:0,0,28,28 1 207646462 143817480 G A 967 PASS VARTYPE=1;BGN=0.00115949;ARL=257;DEA=86;QA=37;PBP=469;PBM=499;TYPE=SNP;DBXREF=dbSNP:rs17615,g1000:0.2584,esp5400:0.3381,ExAC:0.2700,PhyloP:2.7230,SIFT:0.9480,PolyPhen2:0.9960,PolyPhen2_HumDiv:1.0000,MutationTaster:0.8340,GERP:4.8000,clinvar:rs17615,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:64151,GnomAD_AN_exome:245846,GnomAD_AC_genome:9145,GnomAD_AN_genome:30908,GnomAD:0.2648;SGVEP=CR2|+|NM_001006658|10|c.1916G>A|p.(Ser639Asn)|missense GT:DP:AD:DP4 1/1:33:0,33:0,0,16,17 1 207646898 143817557 T C 514 low_coverage VARTYPE=1;BGN=0.0013919;ARL=248;DEA=41;QA=36;PBP=257;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs4308977,g1000:0.2895,esp5400:0.3785,ExAC:0.2810,PhyloP:0.0870,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:1.1900,clinvar:rs4308977,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:66284,GnomAD_AN_exome:245686,GnomAD_AC_genome:10098,GnomAD_AN_genome:30894,GnomAD:0.2762;SGVEP=CR2|+|NM_001006658|11|c.1987T>C|p.(Ser663Pro)|missense GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 1 207646923 143817567 G A 962 PASS VARTYPE=1;BGN=0.000965875;ARL=240;DEA=63;QA=38;PBP=482;PBM=482;TYPE=SNP;DBXREF=dbSNP:rs17616,g1000:0.2576,esp5400:0.3373,ExAC:0.2680,PhyloP:-1.6880,SIFT:0.8090,PolyPhen2:0.6740,PolyPhen2_HumDiv:0.9920,MutationTaster:0.0000,GERP:-8.5700,clinvar:rs17616,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:63831,GnomAD_AN_exome:245834,GnomAD_AC_genome:9092,GnomAD_AN_genome:30916,GnomAD:0.2635;SGVEP=CR2|+|NM_001006658|11|c.2012G>A|p.(Arg671His)|missense GT:DP:AD:DP4 1/1:32:0,32:0,0,16,16 1 207653395 143818446 C A 571 PASS VARTYPE=1;BGN=0.0013919;ARL=205;DEA=39;QA=36;PBP=285;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs17617,g1000:0.9429,esp5400:0.8785,ExAC:0.8840,PhyloP:-0.8260,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0030,GERP:-2.0900,clinvar:rs17617,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:216579,GnomAD_AN_exome:245778,GnomAD_AC_genome:27392,GnomAD_AN_genome:30942,GnomAD:0.8817;SGVEP=CR2|+|NM_001006658|18|c.3185C>A|p.(Ala1062Glu)|missense GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 1 207782916 143830218 A T 2337 PASS VARTYPE=1;BGN=0.00115949;ARL=213;DEA=100;QA=37;PBP=1200;PBM=1142;TYPE=SNP;DBXREF=dbSNP:rs4844609,g1000:0.9950,esp5400:0.9823,ExAC:0.9850,PhyloP:0.3940,SIFT:0.1960,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0030,MutationTaster:0.0000,GERP:2.5400,GnomAD_AC_exome:241855,GnomAD_AN_exome:245432,GnomAD_AC_genome:30512,GnomAD_AN_genome:30960,GnomAD:0.9854;SGVEP=CR1|+|NM_000573|29|c.4828A>T|p.(Thr1610Ser)|missense GT:DP:AD:DP4 1/1:80:0,80:0,0,41,39 1 207795320 143832332 A G 303 PASS VARTYPE=1;BGN=0.000965875;ARL=208;DER=70;DEA=81;QR=37;QA=38;PBP=154;PBM=156;TYPE=SNP;DBXREF=dbSNP:rs2296160,g1000:0.8281,esp5400:0.8178,ExAC:0.8080,PhyloP:-5.6060,SIFT:0.0130,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-8.2500,GnomAD_AC_exome:185513,GnomAD_AN_exome:226268,GnomAD_AC_genome:24736,GnomAD_AN_genome:30914,GnomAD:0.8175;SGVEP=CR1|+|NM_000573|36|c.5905A>G|p.(Thr1969Ala)|missense GT:DP:AD:DP4 0/1:49:35,14:18,17,7,7 1 207934487 143846054 A C 301 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=266;DEA=50;QA=38;PBP=151;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs2466572,g1000:0.8335,GnomAD_AC_genome:24751,GnomAD_AN_genome:30904,GnomAD:0.8009;SGVEP=CD46|+|NM_002389|5|c.476-107A>C|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 207941191 143846747 G T 1142 off_target VARTYPE=1;BGN=0.00115949;ARL=243;DEA=86;QA=37;PBP=557;PBM=586;TYPE=SNP;DBXREF=dbSNP:rs2724374,g1000:0.8331,esp5400:0.7917,ExAC:0.8000,GnomAD_AC_exome:195610,GnomAD_AN_exome:245260,GnomAD_AC_genome:24703,GnomAD_AN_genome:30886,GnomAD:0.7978;SGVEP=CD46|+|NM_002389|8|c.946+23G>T|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,19,20 1 209788703 144035080 T C 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=207;DER=109;DEA=89;QR=36;QA=37;PBP=2736;PBM=2678;TYPE=SNP;DBXREF=dbSNP:rs1049607,g1000:0.4633,esp5400:0.4413,ExAC:0.4010,clinvar:rs1049607,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:96139,GnomAD_AN_exome:244148,GnomAD_AC_genome:13627,GnomAD_AN_genome:30876,GnomAD:0.3991;SGVEP=LAMB3|-|NM_000228|23|c.3432A>G|p.(Ser1144:)|synonymous GT:DP:AD:DP4 1/1:194:2,188:1,1,95,93 1 209792015 144035483 AC ACC 2085 off_target VARTYPE=1;BGN=0.00115949;ARL=220;DER=33;DEA=52;QR=36;QA=37;PBP=1005;PBM=1091;TYPE=INDEL;DBXREF=dbSNP:rs397807887,g1000:0.9836,ExAC:0.9560,clinvar:rs397807887,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:232882,GnomAD_AN_exome:243270,GnomAD_AC_genome:29570,GnomAD_AN_genome:30962,GnomAD:0.9570;SGVEP=LAMB3|-|NM_000228|19|c.2702-12dupG|.|intronic GT:DP:AD:DP4 1/1:83:8,75:4,4,36,39 1 209795909 144035701 T C 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=218;DEA=75;QA=37;PBP=2133;PBM=2046;TYPE=SNP;DBXREF=dbSNP:rs3179860,g1000:0.1028,esp5400:0.1220,ExAC:0.1330,clinvar:rs3179860,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:31785,GnomAD_AN_exome:246232,GnomAD_AC_genome:3258,GnomAD_AN_genome:30874,GnomAD:0.1265;SGVEP=LAMB3|-|NM_000228|18|c.2673A>G|p.(Leu891:)|synonymous GT:DP:AD:DP4 1/1:143:0,143:0,0,73,70 1 209796329 144035774 T A 1330 PASS VARTYPE=1;BGN=0.00167091;ARL=236;DEA=71;QA=35;PBP=832;PBM=499;TYPE=SNP;DBXREF=dbSNP:rs12748250,g1000:0.1024,esp5400:0.1200,ExAC:0.1320,PhyloP:1.9920,SIFT:0.4540,PolyPhen2:0.0180,PolyPhen2_HumDiv:0.0290,LRT:1.0000,MutationTaster:0.5230,GERP:5.2100,clinvar:rs12748250,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:31455,GnomAD_AN_exome:244138,GnomAD_AC_genome:3265,GnomAD_AN_genome:30896,GnomAD:0.1262;SGVEP=LAMB3|-|NM_000228|17|c.2554A>T|p.(Met852Leu)|missense GT:DP:AD:DP4 1/1:48:0,48:0,0,30,18 1 209799253 144036177 A G 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=229;DEA=113;QA=37;PBP=1900;PBM=1929;TYPE=SNP;DBXREF=dbSNP:rs2179402,g1000:0.7650,esp5400:0.7434,ExAC:0.7540,clinvar:rs2179402,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:184083,GnomAD_AN_exome:244216,GnomAD_AC_genome:22962,GnomAD_AN_genome:30904,GnomAD:0.7526;SGVEP=LAMB3|-|NM_000228|14|c.1716T>C|p.(Cys572:)|synonymous GT:DP:AD:DP4 1/1:131:0,131:0,0,65,66 1 209803908 144036664 G C 652 off_target VARTYPE=1;BGN=0.0013919;ARL=233;DER=38;DEA=43;QR=33;QA=36;PBP=408;PBM=253;TYPE=SNP;DBXREF=dbSNP:rs34311919,g1000:0.0274,esp5400:0.0493,ExAC:0.0530,GnomAD_AC_exome:12745,GnomAD_AN_exome:244230,GnomAD_AC_genome:1518,GnomAD_AN_genome:30916,GnomAD:0.0518;SGVEP=LAMB3|-|NM_000228|9|c.943+52C>G|.|intronic GT:DP:AD:DP4 0/1:52:24,28:12,12,17,11 1 209804095 144036719 G A 2975 off_target VARTYPE=1;BGN=0.00115949;ARL=227;DEA=71;QA=37;PBP=1463;PBM=1522;TYPE=SNP;DBXREF=dbSNP:rs4844863,g1000:0.8233,esp5400:0.8412,ExAC:0.8470,clinvar:rs4844863,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:207674,GnomAD_AN_exome:245570,GnomAD_AC_genome:26020,GnomAD_AN_genome:30872,GnomAD:0.8454;SGVEP=LAMB3|-|NM_000228|9|c.823-15C>T|.|intronic GT:DP:AD:DP4 1/1:102:0,102:0,0,50,52 1 209811829 144037335 A T 1346 off_target VARTYPE=1;BGN=0.00115949;ARL=236;DEA=58;QA=37;PBP=674;PBM=674;TYPE=SNP;DBXREF=dbSNP:rs2076355,g1000:0.4551,esp5400:0.2644,ExAC:0.3380,clinvar:rs2076355,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:84111,GnomAD_AN_exome:243938,GnomAD_AC_genome:8850,GnomAD_AN_genome:30584,GnomAD:0.3386;SGVEP=LAMB3|-|NM_000228|4|c.298+50T>A|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,23,23 1 209812063 144037378 T C 937 off_target VARTYPE=1;BGN=0.00115949;ARL=257;DEA=57;QA=37;PBP=411;PBM=528;TYPE=SNP;DBXREF=dbSNP:rs2076357,g1000:0.5789,GnomAD_AC_genome:17582,GnomAD_AN_genome:30828,GnomAD:0.5703;SGVEP=LAMB3|-|NM_000228|4|c.184-70A>G|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,14,18 1 209823354 144038013 G A 2888 PASS VARTYPE=1;BGN=0.00115949;ARL=216;DEA=70;QA=37;PBP=1405;PBM=1492;TYPE=SNP;DBXREF=dbSNP:rs2228339,g1000:0.2979,esp5400:0.2434,ExAC:0.2780,clinvar:rs2228339,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:70276,GnomAD_AN_exome:246118,GnomAD_AC_genome:7547,GnomAD_AN_genome:30926,GnomAD:0.2809;SGVEP=LAMB3|-|NM_000228|3|c.138C>T|p.(Thr46:)|synonymous GT:DP:AD:DP4 1/1:99:0,99:0,0,48,51 1 209880216 114064 CAA CAAA 672 off_target VARTYPE=1;BGN=0.0135939;ARL=245;DER=95;DEA=111;QR=35;QA=36;HL=2;PBP=354;PBM=327;TYPE=INDEL;DBXREF=dbSNP:rs72215241,g1000:0.1981,ExAC:0.2070,clinvar:rs45487298,CLNREVSTAT:no_interpretation_for_the_single_variant,GnomAD_AC_exome:50906,GnomAD_AN_exome:245706,GnomAD_AC_genome:6341,GnomAD_AN_genome:30910,GnomAD:0.2070;SGVEP=HSD11B1|+|NM_001206741|4|c.331+53dupA|.|intronic GT:DP:AD:DP4 0/1:86:37,49:17,20,25,24 1 209880259 144040940 T G 1163 off_target VARTYPE=1;BGN=0.00115949;ARL=240;DER=93;DEA=113;QR=37;QA=37;PBP=588;PBM=585;TYPE=SNP;DBXREF=dbSNP:rs12086634,g1000:0.1971,esp5400:0.1880,ExAC:0.2070,clinvar:rs12086634,CLNREVSTAT:no_interpretation_for_the_single_variant,GnomAD_AC_exome:50787,GnomAD_AN_exome:245594,GnomAD_AC_genome:6332,GnomAD_AN_genome:30924,GnomAD:0.2066;SGVEP=HSD11B1|+|NM_001206741|5|c.332-29T>G|.|intronic GT:DP:AD:DP4 0/1:85:37,48:18,19,24,24 1 209905734 144047909 G C 410 off_target VARTYPE=1;BGN=0.000965875;ARL=243;DER=47;DEA=48;QR=37;QA=38;PBP=234;PBM=182;TYPE=SNP;DBXREF=dbSNP:rs932335,g1000:0.2109,esp5400:0.2032,ExAC:0.2120,GnomAD_AC_exome:51888,GnomAD_AN_exome:245272,GnomAD_AC_genome:6657,GnomAD_AN_genome:30906,GnomAD:0.2120;SGVEP=HSD11B1|+|NM_001206741|6|c.518-47G>C|.|intronic GT:DP:AD:DP4 0/1:50:32,18:16,16,10,8 1 209963803 144053790 G A 395 off_target VARTYPE=1;BGN=0.0013919;ARL=252;DER=39;DEA=77;QR=37;QA=36;PBP=213;PBM=187;TYPE=SNP;DBXREF=dbSNP:rs2235373,g1000:0.2883,esp5400:0.1986,ExAC:0.2310,GnomAD_AC_exome:57586,GnomAD_AN_exome:245524,GnomAD_AC_genome:6180,GnomAD_AN_genome:30946,GnomAD:0.2306;SGVEP=IRF6|-|NM_001206696|5|c.775+37C>T|.|intronic GT:DP:AD:DP4 0/1:33:16,17:8,8,9,8 1 209965587 144053910 G C 658 off_target VARTYPE=1;BGN=0.00115949;ARL=233;DER=78;DEA=38;QR=37;QA=37;PBP=332;PBM=332;TYPE=SNP;DBXREF=dbSNP:rs2235375,g1000:0.4052,esp5400:0.3469,ExAC:0.4020,clinvar:rs2235375,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:100813,GnomAD_AN_exome:246048,GnomAD_AC_genome:11133,GnomAD_AN_genome:30894,GnomAD:0.4042;SGVEP=IRF6|-|NM_001206696|4|c.382+27C>G|.|intronic GT:DP:AD:DP4 0/1:40:14,26:7,7,13,13 1 209968684 144054102 C A 417 PASS VARTYPE=1;BGN=0.0013919;ARL=210;DER=77;DEA=103;QR=37;QA=36;PBP=212;PBM=213;TYPE=SNP;DBXREF=dbSNP:rs2013162,g1000:0.4038,esp5400:0.3448,ExAC:0.4020,clinvar:rs2013162,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:100819,GnomAD_AN_exome:246184,GnomAD_AC_genome:11051,GnomAD_AN_genome:30882,GnomAD:0.4038;SGVEP=IRF6|-|NM_001206696|3|c.174G>T|p.(Ser58:)|synonymous GT:DP:AD:DP4 0/1:93:71,22:36,35,11,11 1 209969902 144054205 G C 928 PASS VARTYPE=1;BGN=0.00115949;ARL=225;DER=36;DEA=53;QR=37;QA=37;PBP=480;PBM=457;TYPE=SNP;DBXREF=dbSNP:rs7552506,g1000:0.2710,esp5400:0.3338,ExAC:0.3240,clinvar:rs7552506,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:79196,GnomAD_AN_exome:245264,GnomAD_AC_genome:9832,GnomAD_AN_genome:30826,GnomAD:0.3225;SGVEP=IRF6|-|NM_001206696|2|c.-111-5C>G|.|intronic GT:DP:AD:DP4 0/1:58:21,37:11,10,19,18 1 213031948 114188 G C 1711 PASS VARTYPE=1;BGN=0.0013919;ARL=230;DER=87;DEA=108;QR=36;QA=36;PBP=885;PBM=840;TYPE=SNP;DBXREF=dbSNP:rs11120047,g1000:0.4445,esp5400:0.3934,ExAC:0.3720,PhyloP:0.5340,SIFT:0.7010,PolyPhen2:0.0430,PolyPhen2_HumDiv:0.0720,LRT:0.3090,MutationTaster:0.0000,GERP:3.1700,clinvar:rs11120047,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:56141,GnomAD_AN_exome:116280,GnomAD_AC_genome:14820,GnomAD_AN_genome:30794,GnomAD:0.4825;SGVEP=FLVCR1|+|NM_014053|1|c.154G>C|p.(Ala52Pro)|missense GT:DP:AD:DP4 0/1:154:78,76:40,38,39,37 1 213032568 144377677 T A 792 off_target VARTYPE=1;BGN=0.000965875;ARL=240;DER=46;DEA=59;QR=35;QA=38;PBP=349;PBM=452;TYPE=SNP;DBXREF=dbSNP:rs12023052,g1000:0.4211,esp5400:0.4202,ExAC:0.4750,GnomAD_AC_exome:115369,GnomAD_AN_exome:245682,GnomAD_AC_genome:14081,GnomAD_AN_genome:30850,GnomAD:0.4681;SGVEP=FLVCR1|+|NM_014053|1|c.738+36T>A|.|intronic GT:DP:AD:DP4 0/1:60:28,32:13,15,14,18 1 213056819 144379967 A G 528 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=229;DEA=54;QA=37;PBP=264;PBM=264;TYPE=SNP;DBXREF=dbSNP:rs2644547,g1000:0.9962,esp5400:0.9959,ExAC:0.9990,GnomAD_AC_exome:214349,GnomAD_AN_exome:214554,GnomAD_AC_genome:30875,GnomAD_AN_genome:30986,GnomAD:0.9987;SGVEP=FLVCR1|+|NM_014053|4|c.1092+39A>G|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 1 213058852 144380227 T A 137 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=265;DER=26;DEA=14;QR=36;QA=35;PBP=70;PBM=70;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7536716,g1000:0.4459,GnomAD_AC_genome:14282,GnomAD_AN_genome:30078,GnomAD:0.4748;SGVEP=FLVCR1|+|NM_014053|5|c.1196+114T>A|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 1 213061308 144380520 T C 233 PASS VARTYPE=1;BGN=0.0013919;ARL=259;DER=113;DEA=110;QR=36;QA=36;PBP=119;PBM=119;TYPE=SNP;DBXREF=dbSNP:rs17677416,g1000:0.0120,esp5400:0.0301,ExAC:0.0270,PhyloP:1.3580,MutationTaster:1.0000,GERP:4.6700,clinvar:rs17677416,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:6810,GnomAD_AN_exome:245970,GnomAD_AC_genome:795,GnomAD_AN_genome:30966,GnomAD:0.0275;SGVEP=FLVCR1|+|NM_014053|6|c.1272T>C|p.(Tyr424:)|synonymous GT:DP:AD:DP4 0/1:20:10,10:5,5,5,5 1 213062017 144380669 T TTTG 108 off_target VARTYPE=1;BGN=0.000965875;ARL=244;DER=45;DEA=60;QR=38;QA=113;PBP=44;PBM=68;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs112024320,GnomAD_AC_genome:21220,GnomAD_AN_genome:30680,GnomAD:0.6917;SGVEP=FLVCR1|+|NM_014053|7|c.1413+96_1413+98dup|.|intronic GT:DP:AD:DP4 0/1:21:16,5:8,8,2,3 1 213068595 114200 C T 269 PASS VARTYPE=1;BGN=0.00115949;ARL=226;DER=92;DEA=92;QR=37;QA=37;PBP=137;PBM=137;TYPE=SNP;DBXREF=dbSNP:rs3207090,g1000:0.3794,esp5400:0.3816,ExAC:0.4490,PhyloP:-0.1180,SIFT:0.9930,PolyPhen2:0.1980,PolyPhen2_HumDiv:0.8630,LRT:0.0800,MutationTaster:0.0000,GERP:-2.5800,clinvar:rs3207090,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:109442,GnomAD_AN_exome:246024,GnomAD_AC_genome:12751,GnomAD_AN_genome:30868,GnomAD:0.4413;SGVEP=FLVCR1|+|NM_014053|10|c.1631C>T|p.(Thr544Met)|missense GT:DP:AD:DP4 0/1:32:20,12:10,10,6,6 1 214542819 144532357 T C 1073 PASS VARTYPE=1;BGN=0.00115949;ARL=218;DER=62;DEA=64;QR=36;QA=37;PBP=552;PBM=531;TYPE=SNP;DBXREF=dbSNP:rs1135352,g1000:0.7839,esp5400:0.8271,ExAC:0.7690,GnomAD_AC_exome:186948,GnomAD_AN_exome:246180,GnomAD_AC_genome:25376,GnomAD_AN_genome:30934,GnomAD:0.7662;SGVEP=PTPN14|-|NM_005401|17|c.3252A>G|p.(Glu1084:)|synonymous GT:DP:AD:DP4 0/1:105:58,47:30,28,24,23 1 214551276 144533878 G A 705 off_target VARTYPE=1;BGN=0.00115949;ARL=225;DER=58;DEA=40;QR=35;QA=37;PBP=376;PBM=338;TYPE=SNP;DBXREF=dbSNP:rs3013451,g1000:0.7865,esp5400:0.8321,ExAC:0.7750,GnomAD_AC_exome:181715,GnomAD_AN_exome:236776,GnomAD_AC_genome:25727,GnomAD_AN_genome:30824,GnomAD:0.7752;SGVEP=PTPN14|-|NM_005401|14|c.2688+26C>T|.|intronic GT:DP:AD:DP4 0/1:61:31,30:18,13,16,14 1 214560293 144536141 G T 422 off_target VARTYPE=1;BGN=0.0013919;ARL=215;DER=52;DEA=69;QR=36;QA=36;PBP=145;PBM=286;TYPE=SNP;DBXREF=dbSNP:rs2270703,g1000:0.0849,esp5400:0.0478,ExAC:0.0620,GnomAD_AC_exome:13843,GnomAD_AN_exome:222644,GnomAD_AC_genome:1243,GnomAD_AN_genome:30942,GnomAD:0.0595;SGVEP=PTPN14|-|NM_005401|12|c.988-28C>A|.|intronic GT:DP:AD:DP4 0/1:56:36,20:17,19,7,13 1 214564340 144536748 T C 279 PASS VARTYPE=1;BGN=0.00115949;ARL=243;DER=115;DEA=116;QR=38;QA=37;PBP=157;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs7550799,g1000:0.7863,esp5400:0.8397,ExAC:0.7720,GnomAD_AC_exome:182963,GnomAD_AN_exome:240482,GnomAD_AC_genome:25652,GnomAD_AN_genome:30926,GnomAD:0.7686;SGVEP=PTPN14|-|NM_005401|11|c.978A>G|p.(Arg326:)|synonymous GT:DP:AD:DP4 0/1:41:28,13:13,15,7,6 1 214564442 144536833 C G 214 off_target VARTYPE=1;BGN=0.000965875;ARL=250;DER=45;DEA=86;QR=37;QA=38;PBP=97;PBM=122;SP=0;TYPE=SNP;DBXREF=dbSNP:rs11120307,g1000:0.4663,esp5400:0.3949,GnomAD_AC_genome:12970,GnomAD_AN_genome:30830,GnomAD:0.4207;SGVEP=PTPN14|-|NM_005401|11|c.930-54G>C|.|intronic GT:DP:AD:DP4 0/1:22:13,9:6,7,4,5 1 214566952 144537265 A G 246 off_target VARTYPE=1;BGN=0.000965875;ARL=244;DER=48;DEA=36;QR=37;QA=38;PBP=124;PBM=127;TYPE=SNP;DBXREF=dbSNP:rs4655342,g1000:0.7859,GnomAD_AC_genome:25930,GnomAD_AN_genome:30932,GnomAD:0.8383;SGVEP=PTPN14|-|NM_005401|10|c.929+86T>C|.|intronic GT:DP:AD:DP4 0/1:21:11,10:6,5,5,5 1 214567013 144537295 CGGGGGGG CGGGGGG 233 off_target VARTYPE=1;BGN=0.0454771;ARL=227;DER=67;DEA=60;QR=37;QA=37;HL=7;PBP=131;PBM=109;TYPE=INDEL;DBXREF=dbSNP:rs796202184,ExAC:0.7730,GnomAD_AC_exome:186945,GnomAD_AN_exome:244194,GnomAD_AC_genome:25895,GnomAD_AN_genome:30920,GnomAD:0.7736;SGVEP=PTPN14|-|NM_005401|10|c.929+24del|.|intronic GT:DP:AD:DP4 0/1:52:24,28:12,12,15,13 1 214637882 144545692 A G 628 off_target VARTYPE=1;BGN=0.0013919;ARL=261;DEA=50;QA=36;PBP=314;PBM=314;TYPE=SNP;DBXREF=dbSNP:rs7528315,g1000:0.8261,GnomAD_AC_genome:25302,GnomAD_AN_genome:30940,GnomAD:0.8178;SGVEP=PTPN14|-|NM_005401|2|c.174+91T>C|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 1 214638172 144545970 C T 1667 off_target VARTYPE=1;BGN=0.00115949;ARL=219;DEA=60;QA=37;PBP=791;PBM=879;TYPE=SNP;DBXREF=dbSNP:rs10864100,g1000:0.8261,esp5400:0.8362,ExAC:0.8050,GnomAD_AC_exome:197066,GnomAD_AN_exome:244268,GnomAD_AC_genome:25312,GnomAD_AN_genome:30942,GnomAD:0.8080;SGVEP=PTPN14|-|NM_005401|2|c.-26G>A|.|5'UTR GT:DP:AD:DP4 1/1:57:0,57:0,0,27,30 1 215848587 114559 T C 923 PASS VARTYPE=1;BGN=0.00115949;ARL=230;DER=103;DEA=108;QR=37;QA=37;PBP=467;PBM=467;TYPE=SNP;DBXREF=dbSNP:rs2797234,g1000:0.3031,esp5400:0.3322,ExAC:0.3640,clinvar:rs2797234,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:90666,GnomAD_AN_exome:244770,GnomAD_AC_genome:10794,GnomAD_AN_genome:30942,GnomAD:0.3680;SGVEP=USH2A|-|NM_206933|63|c.12666A>G|p.(Thr4222:)|synonymous GT:DP:AD:DP4 0/1:110:68,42:34,34,21,21 1 215848641 114569 T C 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=228;DEA=108;QA=37;PBP=1900;PBM=1900;TYPE=SNP;DBXREF=dbSNP:rs2797235,g1000:0.6897,esp5400:0.7501,ExAC:0.7650,clinvar:rs2797235,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:187188,GnomAD_AN_exome:243968,GnomAD_AC_genome:23025,GnomAD_AN_genome:30934,GnomAD:0.7647;SGVEP=USH2A|-|NM_206933|63|c.12612A>G|p.(Thr4204:)|synonymous GT:DP:AD:DP4 1/1:130:0,130:0,0,65,65 1 215914826 114695 T C 364 PASS VARTYPE=1;BGN=0.00115949;ARL=202;DER=75;DEA=72;QR=37;QA=37;PBP=197;PBM=173;TYPE=SNP;DBXREF=dbSNP:rs35309576,g1000:0.1593,esp5400:0.2180,ExAC:0.1960,PhyloP:-1.6930,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.5410,MutationTaster:0.0000,GERP:-9.6800,clinvar:rs35309576,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:48343,GnomAD_AN_exome:246098,GnomAD_AC_genome:6612,GnomAD_AN_genome:30804,GnomAD:0.1985;SGVEP=USH2A|-|NM_206933|60|c.11602A>G|p.(Met3868Val)|missense GT:DP:AD:DP4 0/1:53:36,17:18,18,9,8 1 215916563 114710 G A 225 PASS VARTYPE=1;BGN=0.000965875;ARL=205;DER=76;DEA=112;QR=37;QA=38;PBP=116;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs11120616,g1000:0.1446,esp5400:0.2026,ExAC:0.1920,PhyloP:2.7060,SIFT:0.8170,PolyPhen2:0.0550,PolyPhen2_HumDiv:0.0550,LRT:0.4630,MutationTaster:1.0000,GERP:4.9400,clinvar:rs11120616,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:47231,GnomAD_AN_exome:245586,GnomAD_AC_genome:5917,GnomAD_AN_genome:30316,GnomAD:0.1926;SGVEP=USH2A|-|NM_206933|59|c.11504C>T|p.(Thr3835Ile)|missense GT:DP:AD:DP4 0/1:31:21,10:10,11,5,5 1 215956304 144689189 A G 188 off_target VARTYPE=1;BGN=0.000965875;ARL=214;DER=51;DEA=35;QR=38;QA=38;PBP=71;PBM=122;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7518466,g1000:0.6016,esp5400:0.5848,ExAC:0.5400,GnomAD_AC_exome:125372,GnomAD_AN_exome:226346,GnomAD_AC_genome:18220,GnomAD_AN_genome:30870,GnomAD:0.5583;SGVEP=USH2A|-|NM_206933|53|c.10388-27T>C|.|intronic GT:DP:AD:DP4 0/1:21:13,8:6,7,3,5 1 215960167 114872 T G 620 PASS VARTYPE=1;BGN=0.000965875;ARL=229;DER=110;DEA=91;QR=37;QA=38;PBP=300;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs10864198,g1000:0.5887,esp5400:0.5732,ExAC:0.5470,PhyloP:1.0400,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:4.8800,clinvar:rs10864198,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:134393,GnomAD_AN_exome:245400,GnomAD_AC_genome:17904,GnomAD_AN_genome:30858,GnomAD:0.5513;SGVEP=USH2A|-|NM_206933|52|c.10232A>C|p.(Glu3411Ala)|missense GT:DP:AD:DP4 0/1:70:43,27:22,21,13,14 1 216219781 115304 A G 252 PASS VARTYPE=1;BGN=0.00115949;ARL=233;DER=32;DEA=133;QR=37;QA=37;PBP=116;PBM=141;TYPE=SNP;DBXREF=dbSNP:rs6657250,g1000:0.5956,esp5400:0.6983,ExAC:0.6060,PhyloP:1.4420,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9190,MutationTaster:0.6010,GERP:5.4200,clinvar:rs6657250,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:146016,GnomAD_AN_exome:245838,GnomAD_AC_genome:20838,GnomAD_AN_genome:30832,GnomAD:0.6031;SGVEP=USH2A|-|NM_206933|32|c.6317T>C|p.(Ile2106Thr)|missense GT:DP:AD:DP4 0/1:27:16,11:8,8,5,6 1 216246675 144719209 AGGG AGG 884 off_target VARTYPE=1;BGN=0.0168436;ARL=247;DER=30;DEA=69;QR=33;QA=37;HL=3;PBP=435;PBM=453;TYPE=INDEL;DBXREF=dbSNP:rs397829042,g1000:0.7873,ExAC:0.7250,GnomAD_AC_exome:172746,GnomAD_AN_exome:235848,GnomAD_AC_genome:21883,GnomAD_AN_genome:30834,GnomAD:0.7298;SGVEP=USH2A|-|NM_206933|28|c.5573-34del|.|intronic GT:DP:AD:DP4 1/1:57:4,53:2,2,26,27 1 216348764 115509 C T 1396 PASS VARTYPE=1;BGN=0.0013919;ARL=214;DEA=75;QA=36;PBP=685;PBM=713;TYPE=SNP;DBXREF=dbSNP:rs1805049,g1000:0.6623,esp5400:0.6067,ExAC:0.6570,PhyloP:-0.4820,SIFT:0.5840,PolyPhen2:0.0310,PolyPhen2_HumDiv:0.1180,LRT:0.8340,MutationTaster:0.0000,GERP:-2.2400,clinvar:rs1805049,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:162023,GnomAD_AN_exome:245186,GnomAD_AC_genome:19740,GnomAD_AN_genome:30880,GnomAD:0.6584;SGVEP=USH2A|-|NM_007123|21|c.4457G>A|p.(Arg1486Lys)|missense GT:DP:AD:DP4 1/1:49:0,49:0,0,24,25 1 216390694 144734039 C T 1113 off_target VARTYPE=1;BGN=0.00115949;ARL=219;DEA=53;QA=37;PBP=557;PBM=557;TYPE=SNP;DBXREF=dbSNP:rs1324330,g1000:0.5875,esp5400:0.5230,ExAC:0.6290,GnomAD_AC_exome:154391,GnomAD_AN_exome:241850,GnomAD_AC_genome:17602,GnomAD_AN_genome:30878,GnomAD:0.6306;SGVEP=USH2A|-|NM_007123|15|c.3157+35G>A|.|intronic GT:DP:AD:DP4 1/1:38:0,38:0,0,19,19 1 216424303 115733 A G 372 PASS VARTYPE=1;BGN=0.000965875;ARL=201;DER=90;DEA=92;QR=36;QA=38;PBP=190;PBM=188;TYPE=SNP;DBXREF=dbSNP:rs45555435,g1000:0.0074,esp5400:0.0131,ExAC:0.0160,clinvar:rs45555435,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:4252,GnomAD_AN_exome:245706,GnomAD_AC_genome:512,GnomAD_AN_genome:30972,GnomAD:0.0172;SGVEP=USH2A|-|NM_007123|12|c.2109T>C|p.(Asp703:)|synonymous GT:DP:AD:DP4 0/1:41:25,16:12,13,8,8 1 216495191 144743580 T G 797 off_target VARTYPE=1;BGN=0.00115949;ARL=220;DER=57;DEA=52;QR=37;QA=37;PBP=414;PBM=391;TYPE=SNP;DBXREF=dbSNP:rs7515253,g1000:0.2636,esp5400:0.2891,ExAC:0.2540,GnomAD_AC_exome:61716,GnomAD_AN_exome:245292,GnomAD_AC_genome:8402,GnomAD_AN_genome:30906,GnomAD:0.2539;SGVEP=USH2A|-|NM_007123|9|c.1644+34A>C|.|intronic GT:DP:AD:DP4 0/1:60:27,33:14,13,17,16 1 216495400 144743627 A G 443 off_target VARTYPE=1;BGN=0.000965875;ARL=251;DER=29;DEA=56;QR=38;QA=38;PBP=214;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs2089947,g1000:0.2566,GnomAD_AC_genome:8202,GnomAD_AN_genome:30900,GnomAD:0.2654;SGVEP=USH2A|-|NM_007123|9|c.1551-82T>C|.|intronic GT:DP:AD:DP4 0/1:27:10,17:4,6,8,9 1 216496947 115832 G A 332 PASS VARTYPE=1;BGN=0.00167091;ARL=238;DER=117;DEA=99;QR=36;QA=35;PBP=167;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs1805050,g1000:0.2630,esp5400:0.2951,ExAC:0.2520,clinvar:rs1805050,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:61247,GnomAD_AN_exome:245484,GnomAD_AC_genome:8326,GnomAD_AN_genome:30812,GnomAD:0.2518;SGVEP=USH2A|-|NM_007123|8|c.1419C>T|p.(Thr473:)|synonymous GT:DP:AD:DP4 0/1:42:26,16:14,12,8,8 1 218520157 115974 G A 1205 PASS VARTYPE=1;BGN=0.00115949;ARL=209;DER=88;DEA=90;QR=37;QA=37;PBP=612;PBM=604;TYPE=SNP;DBXREF=dbSNP:rs149215818,g1000:0.0034,esp5400:0.0010,ExAC:0.0033,clinvar:rs149215818,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:741,GnomAD_AN_exome:246244,GnomAD_AC_genome:21,GnomAD_AN_genome:30958,GnomAD:0.0027;SGVEP=TGFB2|+|NM_001135599|1|c.114G>A|p.(Glu38:)|synonymous GT:DP:AD:DP4 0/1:109:57,52:27,30,26,26 1 220089352 145101295 A C 609 off_target VARTYPE=1;BGN=0.0013919;ARL=265;DER=82;DEA=55;QR=33;QA=36;PBP=310;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs2231734,g1000:0.2925,GnomAD_AC_genome:9672,GnomAD_AN_genome:30914,GnomAD:0.3129;SGVEP=SLC30A10|-|NM_018713|4|c.959-62T>G|.|intronic GT:DP:AD:DP4 0/1:33:9,24:4,5,12,12 1 220325137 145125098 G C 498 off_target VARTYPE=1;BGN=0.00115949;ARL=244;DER=63;DEA=66;QR=35;QA=37;PBP=244;PBM=261;TYPE=SNP;DBXREF=dbSNP:rs12032738,g1000:0.0531,esp5400:0.0530,ExAC:0.0420,GnomAD_AC_exome:9798,GnomAD_AN_exome:244902,GnomAD_AC_genome:1397,GnomAD_AN_genome:30972,GnomAD:0.0406;SGVEP=RAB3GAP2|-|NM_012414|34|c.3868-31C>G|.|intronic GT:DP:AD:DP4 0/1:42:21,21:9,12,10,11 1 220344453 116155 T C 519 PASS VARTYPE=1;BGN=0.00115949;ARL=229;DER=67;DEA=65;QR=37;QA=37;PBP=291;PBM=235;TYPE=SNP;DBXREF=dbSNP:rs12045447,g1000:0.0525,esp5400:0.0521,ExAC:0.0400,PhyloP:0.1330,SIFT:0.2470,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0020,LRT:0.9320,MutationTaster:0.0000,GERP:0.6570,clinvar:rs12045447,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:9369,GnomAD_AN_exome:245794,GnomAD_AC_genome:1379,GnomAD_AN_genome:30962,GnomAD:0.0388;SGVEP=RAB3GAP2|-|NM_012414|24|c.2587A>G|p.(Thr863Ala)|missense GT:DP:AD:DP4 0/1:45:23,22:11,12,12,10 1 220368527 116185 T G 606 off_target VARTYPE=1;BGN=0.000965875;ARL=209;DER=97;DEA=90;QR=37;QA=38;PBP=321;PBM=292;TYPE=SNP;DBXREF=dbSNP:rs73098579,g1000:0.0547,esp5400:0.0549,ExAC:0.0430,clinvar:rs73098579,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:10092,GnomAD_AN_exome:245542,GnomAD_AC_genome:1422,GnomAD_AN_genome:30962,GnomAD:0.0416;SGVEP=RAB3GAP2|-|NM_012414|12|c.1041-18A>C|.|intronic GT:DP:AD:DP4 0/1:52:27,25:13,14,13,12 1 221053574 145205483 A C 2105 PASS VARTYPE=1;BGN=0.0013919;ARL=214;DER=97;DEA=92;QR=36;QA=36;PBP=1099;PBM=1022;TYPE=SNP;DBXREF=dbSNP:rs62621984,g1000:0.0132,esp5400:0.0314,ExAC:0.0310,PhyloP:-0.1440,SIFT:0.9530,PolyPhen2:0.4590,PolyPhen2_HumDiv:0.8750,LRT:0.9980,MutationTaster:0.0010,GERP:-0.0536,GnomAD_AC_exome:7426,GnomAD_AN_exome:239060,GnomAD_AC_genome:852,GnomAD_AN_genome:30916,GnomAD:0.0307;SGVEP=HLX|+|NM_021958|1|c.375A>C|p.(Gln125His)|missense GT:DP:AD:DP4 0/1:183:90,93:45,45,48,45 1 221055463 145205851 G A 1522 off_target VARTYPE=1;BGN=0.00115949;ARL=230;DEA=55;QA=37;PBP=791;PBM=733;TYPE=SNP;DBXREF=dbSNP:rs2247213,g1000:0.2989,esp5400:0.3805,ExAC:0.3150,PhyloP:-1.2540,SIFT:0.9820,MutationTaster:0.0000,GERP:-3.5600,GnomAD_AC_exome:76275,GnomAD_AN_exome:243826,GnomAD_AC_genome:11052,GnomAD_AN_genome:30888,GnomAD:0.3179;SGVEP=HLX|+|NM_021958|3|c.773-43G>A|.|intronic GT:DP:AD:DP4 1/1:52:0,52:0,0,27,25 1 221057646 145206381 C T 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=223;DEA=99;QA=37;PBP=2946;PBM=2637;TYPE=SNP;DBXREF=dbSNP:rs2738755,g1000:0.2987,esp5400:0.3796,ExAC:0.3140,PhyloP:0.2640,SIFT:0.9950,PolyPhen2:0.0070,PolyPhen2_HumDiv:0.0690,LRT:0.6860,MutationTaster:0.0000,GERP:2.0200,GnomAD_AC_exome:76311,GnomAD_AN_exome:244330,GnomAD_AC_genome:10957,GnomAD_AN_genome:30770,GnomAD:0.3172;SGVEP=HLX|+|NM_021958|4|c.1067C>T|p.(Pro356Leu)|missense GT:DP:AD:DP4 1/1:193:0,192:0,0,101,91 1 221057662 145206389 G A 2285 PASS VARTYPE=1;BGN=0.00115949;ARL=224;DER=103;DEA=100;QR=36;QA=37;PBP=1188;PBM=1115;TYPE=SNP;DBXREF=dbSNP:rs3738182,g1000:0.1869,esp5400:0.2089,ExAC:0.1840,GnomAD_AC_exome:44717,GnomAD_AN_exome:243956,GnomAD_AC_genome:6314,GnomAD_AN_genome:30834,GnomAD:0.1857;SGVEP=HLX|+|NM_021958|4|c.1083G>A|p.(Glu361:)|synonymous GT:DP:AD:DP4 0/1:205:106,99:54,52,51,48 1 221057739 145206428 C G 2379 PASS VARTYPE=1;BGN=0.00115949;ARL=220;DER=90;DEA=91;QR=36;QA=37;PBP=1232;PBM=1166;TYPE=SNP;DBXREF=dbSNP:rs11578466,g1000:0.0747,esp5400:0.1272,ExAC:0.1190,PhyloP:0.6420,SIFT:0.9590,PolyPhen2:0.0210,PolyPhen2_HumDiv:0.0120,LRT:0.9340,MutationTaster:0.7930,GERP:3.1600,GnomAD_AC_exome:29239,GnomAD_AN_exome:244818,GnomAD_AC_genome:3483,GnomAD_AN_genome:30872,GnomAD:0.1187;SGVEP=HLX|+|NM_021958|4|c.1160C>G|p.(Ala387Gly)|missense GT:DP:AD:DP4 0/1:193:92,101:48,44,52,49 1 221058059 145206612 C T 1263 off_target VARTYPE=1;BGN=0.00115949;ARL=227;DER=79;DEA=73;QR=36;QA=37;PBP=569;PBM=704;TYPE=SNP;DBXREF=dbSNP:rs2738756,g1000:0.1118,esp5400:0.1529,ExAC:0.1230,GnomAD_AC_exome:28375,GnomAD_AN_exome:227890,GnomAD_AC_genome:4652,GnomAD_AN_genome:30902,GnomAD:0.1276;SGVEP=HLX|+|NM_021958|4|c.*13C>T|.|3'UTR GT:DP:AD:DP4 0/1:83:32,51:16,16,23,28 1 223156382 145418902 C T 962 off_target VARTYPE=1;BGN=0.000965875;ARL=212;DEA=58;QA=38;PBP=512;PBM=452;TYPE=SNP;DBXREF=dbSNP:rs2926159,g1000:0.9998,esp5400:0.9998,ExAC:1.0000,GnomAD_AC_exome:226973,GnomAD_AN_exome:226988,GnomAD_AC_genome:30106,GnomAD_AN_genome:30118,GnomAD:0.9999;SGVEP=DISP1|+|NM_032890|5|c.510-40C>T|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,17,15 1 223168213 145420163 T C 307 off_target VARTYPE=1;BGN=0.000965875;ARL=231;DER=58;DEA=102;QR=37;QA=38;PBP=154;PBM=158;TYPE=SNP;DBXREF=dbSNP:rs2609359,g1000:0.3796,esp5400:0.3303,ExAC:0.3460,clinvar:rs2609359,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:84136,GnomAD_AN_exome:244170,GnomAD_AC_genome:10581,GnomAD_AN_genome:30770,GnomAD:0.3445;SGVEP=DISP1|+|NM_032890|9|c.890-14T>C|.|intronic GT:DP:AD:DP4 0/1:21:9,12:5,4,6,6 1 223175620 145420884 G A 184 off_target VARTYPE=1;BGN=0.00115949;ARL=258;DER=13;DEA=85;QR=37;QA=37;PBP=120;PBM=69;SP=2;TYPE=SNP;DBXREF=dbSNP:rs190562655,g1000:0.0012,GnomAD_AC_genome:74,GnomAD_AN_genome:30960,GnomAD:0.0024;SGVEP=DISP1|+|NM_032890|10|c.988-107G>A|.|intronic GT:DP:AD:DP4 0/1:20:12,8:6,6,5,3 1 223178561 145421515 A C 1207 PASS VARTYPE=1;BGN=0.00115949;ARL=223;DER=107;DEA=104;QR=38;QA=37;PBP=595;PBM=624;TYPE=SNP;DBXREF=dbSNP:rs9441941,g1000:0.4980,esp5400:0.5397,ExAC:0.5440,clinvar:rs9441941,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:134166,GnomAD_AN_exome:245344,GnomAD_AC_genome:16835,GnomAD_AN_genome:30892,GnomAD:0.5466;SGVEP=DISP1|+|NM_032890|10|c.3822A>C|p.(Pro1274:)|synonymous GT:DP:AD:DP4 0/1:143:88,55:45,43,27,28 1 223283910 145431340 A G 2772 PASS VARTYPE=1;BGN=0.00115949;ARL=223;DEA=111;QA=37;PBP=1259;PBM=1522;TYPE=SNP;DBXREF=dbSNP:rs7512943,g1000:1.0000,ExAC:1.0000,PhyloP:0.0220,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9160,MutationTaster:0.0000,GERP:2.5800,GnomAD_AC_exome:246227,GnomAD_AN_exome:246228,GnomAD_AC_genome:30958,GnomAD_AN_genome:30958,GnomAD:1.0000;SGVEP=TLR5|-|NM_003268|6|c.2464T>C|p.(Phe822Leu)|missense GT:DP:AD:DP4 1/1:95:0,95:0,0,43,52 1 223284599 116217 T C 616 PASS VARTYPE=1;BGN=0.00115949;ARL=231;DER=103;DEA=108;QR=36;QA=37;PBP=313;PBM=311;TYPE=SNP;DBXREF=dbSNP:rs2072493,g1000:0.1402,esp5400:0.1147,ExAC:0.1490,PhyloP:-1.5420,SIFT:0.2690,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0010,MutationTaster:0.0000,GERP:-10.0000,clinvar:rs2072493,CLNSIG:risk_factor,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:38121,GnomAD_AN_exome:245816,GnomAD_AC_genome:3704,GnomAD_AN_genome:30956,GnomAD:0.1511;SGVEP=TLR5|-|NM_003268|6|c.1775A>G|p.(Asn592Ser)|missense GT:DP:AD:DP4 0/1:75:47,28:23,24,14,14 1 223285601 145431659 A T 1313 PASS VARTYPE=1;BGN=0.00115949;ARL=216;DER=109;DEA=93;QR=37;QA=37;PBP=640;PBM=684;TYPE=SNP;DBXREF=dbSNP:rs138703616,esp5400:0.0002,ExAC:0.0003,PhyloP:1.9780,LRT:1.0000,MutationTaster:1.0000,GERP:5.2700,GnomAD_AC_exome:90,GnomAD_AN_exome:245590,GnomAD_AC_genome:2,GnomAD_AN_genome:30982,GnomAD:0.0003;SGVEP=TLR5|-|NM_003268|6|c.773T>A|p.(Leu258*)|nonsense GT:DP:AD:DP4 0/1:133:73,58:35,38,28,30 1 225607144 145651371 C T 433 PASS VARTYPE=1;BGN=0.00115949;ARL=249;DER=62;DEA=38;QR=36;QA=37;PBP=207;PBM=233;TYPE=SNP;DBXREF=dbSNP:rs2230419,g1000:0.7123,esp5400:0.7040,ExAC:0.7990,PhyloP:-2.5500,SIFT:0.4390,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0140,LRT:0.5480,MutationTaster:0.0000,GERP:-7.9500,clinvar:rs2230419,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:198786,GnomAD_AN_exome:244890,GnomAD_AC_genome:22671,GnomAD_AN_genome:30914,GnomAD:0.8030;SGVEP=LBR|-|NM_002296|5|c.461G>A|p.(Ser154Asn)|missense GT:DP:AD:DP4 0/1:45:26,19:13,13,9,10 1 225609763 145651732 G A 449 off_target VARTYPE=1;BGN=0.00115949;ARL=209;DER=42;DEA=62;QR=36;QA=37;PBP=241;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs12410357,g1000:0.0831,esp5400:0.1063,ExAC:0.1050,clinvar:rs12410357,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:25909,GnomAD_AN_exome:245704,GnomAD_AC_genome:2853,GnomAD_AN_genome:30946,GnomAD:0.1040;SGVEP=LBR|-|NM_002296|3|c.366+16C>T|.|intronic GT:DP:AD:DP4 0/1:39:20,19:10,10,10,9 1 225609884 145651808 A G 2453 PASS VARTYPE=1;BGN=0.00115949;ARL=208;DEA=94;QA=37;PBP=1259;PBM=1200;TYPE=SNP;DBXREF=dbSNP:rs1056608,g1000:0.6709,esp5400:0.6595,ExAC:0.7500,clinvar:rs1056608,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:187842,GnomAD_AN_exome:246124,GnomAD_AC_genome:21117,GnomAD_AN_genome:30918,GnomAD:0.7543;SGVEP=LBR|-|NM_002296|3|c.261T>C|p.(Pro87:)|synonymous GT:DP:AD:DP4 1/1:84:0,84:0,0,43,41 1 225611661 145652254 C T 628 PASS VARTYPE=1;BGN=0.00115949;ARL=204;DER=76;DEA=85;QR=37;QA=37;PBP=319;PBM=317;TYPE=SNP;DBXREF=dbSNP:rs1056607,g1000:0.6571,esp5400:0.6972,ExAC:0.7110,clinvar:rs1056607,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:176733,GnomAD_AN_exome:246210,GnomAD_AC_genome:22452,GnomAD_AN_genome:30920,GnomAD:0.7187;SGVEP=LBR|-|NM_002296|2|c.117G>A|p.(Val39:)|synonymous GT:DP:AD:DP4 0/1:69:41,28:20,21,14,14 1 226019774 145695802 G C 204 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=278;DER=62;DEA=26;QR=37;QA=37;PBP=106;PBM=102;TYPE=SNP;DBXREF=dbSNP:rs2260863,g1000:0.7436,GnomAD_AC_genome:20967,GnomAD_AN_genome:30920,GnomAD:0.6781;SGVEP=EPHX1|+|NM_000120|3|c.364+114G>C|.|intronic GT:DP:AD:DP4 0/1:13:5,8:2,3,4,4 1 226026241 145696417 C G 300 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=269;DER=43;DEA=39;QR=31;QA=35;PBP=174;PBM=131;TYPE=SNP;DBXREF=dbSNP:rs4149223,g1000:0.4972,GnomAD_AC_genome:16076,GnomAD_AN_genome:30682,GnomAD:0.5240;SGVEP=EPHX1|+|NM_000120|4|c.365-114C>G|.|intronic GT:DP:AD:DP4 0/1:16:4,12:3,1,7,5 1 226550741 145749449 C T 332 off_target VARTYPE=1;BGN=0.00115949;ARL=228;DER=36;DEA=68;QR=34;QA=37;PBP=167;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs747659,g1000:0.2566,esp5400:0.2127,GnomAD_AC_genome:7128,GnomAD_AN_genome:30868,GnomAD:0.2309;SGVEP=PARP1|-|NM_001618|21|c.2848+59G>A|.|intronic GT:DP:AD:DP4 0/1:29:15,14:8,7,7,7 1 226550924 145749549 G C 569 off_target VARTYPE=1;BGN=0.00115949;ARL=237;DER=44;DEA=83;QR=38;QA=37;PBP=274;PBM=301;TYPE=SNP;DBXREF=dbSNP:rs747657,g1000:0.4866,esp5400:0.6209,GnomAD_AC_genome:17635,GnomAD_AN_genome:30912,GnomAD:0.5705;SGVEP=PARP1|-|NM_001618|21|c.2787-63C>G|.|intronic GT:DP:AD:DP4 0/1:39:16,23:8,8,11,12 1 226551506 145749650 T C 143 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=277;DER=69;DEA=24;QR=38;QA=35;PBP=70;PBM=77;SP=2;TYPE=SNP;DBXREF=dbSNP:rs752308,g1000:0.2468,GnomAD_AC_genome:6853,GnomAD_AN_genome:30928,GnomAD:0.2216;SGVEP=PARP1|-|NM_001618|20|c.2786+138A>G|.|intronic GT:DP:AD:DP4 0/1:10:4,6:3,1,3,3 1 226551529 145749652 C G 416 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=266;DEA=45;QA=35;PBP=222;PBM=194;TYPE=SNP;DBXREF=dbSNP:rs752307,g1000:0.7823,GnomAD_AC_genome:25248,GnomAD_AN_genome:30938,GnomAD:0.8161;SGVEP=PARP1|-|NM_001618|20|c.2786+115G>C|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 1 226556094 145750776 T C 674 off_target VARTYPE=1;BGN=0.00115949;ARL=243;DEA=51;QA=37;PBP=293;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs1805400,g1000:0.9864,GnomAD_AC_genome:30494,GnomAD_AN_genome:30966,GnomAD:0.9848;SGVEP=PARP1|-|NM_001618|16|c.2155-72A>G|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,10,13 1 226566726 145752375 A C 343 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=279;DEA=56;QA=36;PBP=200;PBM=143;TYPE=SNP;DBXREF=dbSNP:rs907190,g1000:0.7412,GnomAD_AC_genome:24719,GnomAD_AN_genome:30870,GnomAD:0.8007;SGVEP=PARP1|-|NM_001618|12|c.1745+117T>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,7,5 1 226567008 145752510 C G 364 off_target VARTYPE=1;BGN=0.00115949;ARL=228;DER=63;DEA=40;QR=37;QA=37;PBP=186;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs732284,g1000:0.2464,esp5400:0.2287,ExAC:0.1910,GnomAD_AC_exome:45740,GnomAD_AN_exome:246220,GnomAD_AC_genome:6820,GnomAD_AN_genome:30922,GnomAD:0.1897;SGVEP=PARP1|-|NM_001618|12|c.1613-33G>C|.|intronic GT:DP:AD:DP4 0/1:39:23,16:11,12,8,8 1 226567563 145752683 C G 343 off_target VARTYPE=1;BGN=0.0013919;ARL=228;DER=54;DEA=32;QR=36;QA=36;PBP=239;PBM=112;TYPE=SNP;DBXREF=dbSNP:rs2271343,g1000:0.2839,GnomAD_AC_genome:7201,GnomAD_AN_genome:30928,GnomAD:0.2328;SGVEP=PARP1|-|NM_001618|10|c.1543+60G>C|.|intronic GT:DP:AD:DP4 0/1:31:16,15:8,8,10,5 1 226570840 145753250 T C 2424 PASS VARTYPE=1;BGN=0.00115949;ARL=213;DEA=80;QA=37;PBP=1200;PBM=1230;TYPE=SNP;DBXREF=dbSNP:rs1805415,g1000:0.7893,esp5400:0.8600,ExAC:0.7940,GnomAD_AC_exome:193022,GnomAD_AN_exome:246232,GnomAD_AC_genome:25447,GnomAD_AN_genome:30928,GnomAD:0.7882;SGVEP=PARP1|-|NM_001618|8|c.1056A>G|p.(Lys352:)|synonymous GT:DP:AD:DP4 1/1:83:0,83:0,0,41,42 1 226573274 145756010 G A 1374 PASS VARTYPE=1;BGN=0.00115949;ARL=236;DER=100;DEA=102;QR=37;QA=37;PBP=668;PBM=718;TYPE=SNP;DBXREF=dbSNP:rs61750984,g1000:0.0042,esp5400:0.0029,ExAC:0.0053,GnomAD_AC_exome:1410,GnomAD_AN_exome:246264,GnomAD_AC_genome:60,GnomAD_AN_genome:30962,GnomAD:0.0053;SGVEP=PARP1|-|NM_001618|7|c.942C>T|p.(Asp314:)|synonymous GT:DP:AD:DP4 0/1:111:53,58:26,27,28,30 1 226573364 145756077 A G 937 PASS VARTYPE=1;BGN=0.0013919;ARL=232;DER=84;DEA=83;QR=37;QA=36;PBP=439;PBM=508;TYPE=SNP;DBXREF=dbSNP:rs1805414,g1000:0.5166,esp5400:0.4046,ExAC:0.4230,GnomAD_AC_exome:104491,GnomAD_AN_exome:246118,GnomAD_AC_genome:13313,GnomAD_AN_genome:30916,GnomAD:0.4252;SGVEP=PARP1|-|NM_001618|7|c.852T>C|p.(Ala284:)|synonymous GT:DP:AD:DP4 0/1:101:58,43:28,30,20,23 1 226573402 145756095 T C 649 off_target VARTYPE=1;BGN=0.00115949;ARL=235;DER=68;DEA=69;QR=37;QA=37;PBP=317;PBM=340;TYPE=SNP;DBXREF=dbSNP:rs1805408,g1000:0.2630,esp5400:0.2459,ExAC:0.1960,GnomAD_AC_exome:46689,GnomAD_AN_exome:245796,GnomAD_AC_genome:7280,GnomAD_AN_genome:30896,GnomAD:0.1951;SGVEP=PARP1|-|NM_001618|7|c.835-21A>G|.|intronic GT:DP:AD:DP4 0/1:72:43,29:21,22,14,15 1 226576296 145757563 G A 504 off_target VARTYPE=1;BGN=0.000965875;ARL=232;DER=35;DEA=33;QR=33;QA=38;PBP=248;PBM=262;TYPE=SNP;DBXREF=dbSNP:rs2293464,g1000:0.2554,GnomAD_AC_genome:7066,GnomAD_AN_genome:30938,GnomAD:0.2284;SGVEP=PARP1|-|NM_001618|5|c.717+61C>T|.|intronic GT:DP:AD:DP4 0/1:28:9,19:3,6,9,10 1 226578099 145757808 T C 1959 off_target VARTYPE=1;BGN=0.00115949;ARL=239;DEA=63;QA=37;PBP=1054;PBM=908;TYPE=SNP;DBXREF=dbSNP:rs1805403,g1000:0.8576,esp5400:0.8207,ExAC:0.8060,GnomAD_AC_exome:199100,GnomAD_AN_exome:245852,GnomAD_AC_genome:26180,GnomAD_AN_genome:30884,GnomAD:0.8141;SGVEP=PARP1|-|NM_001618|4|c.617+12A>G|.|intronic GT:DP:AD:DP4 1/1:67:0,67:0,0,36,31 1 226580021 145757986 G T 787 off_target VARTYPE=1;BGN=0.00115949;ARL=207;DER=45;DEA=53;QR=37;QA=37;PBP=347;PBM=449;TYPE=SNP;DBXREF=dbSNP:rs1805405,g1000:0.2558,esp5400:0.2381,ExAC:0.1940,GnomAD_AC_exome:46353,GnomAD_AN_exome:246186,GnomAD_AC_genome:7057,GnomAD_AN_genome:30916,GnomAD:0.1927;SGVEP=PARP1|-|NM_001618|3|c.287-6C>A|.|intronic GT:DP:AD:DP4 0/1:73:39,34:19,20,15,19 1 226580093 145757994 C T 182 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=264;DER=37;DEA=51;QR=37;QA=38;PBP=77;PBM=109;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2280712,g1000:0.1552,GnomAD_AC_genome:4239,GnomAD_AN_genome:30956,GnomAD:0.1369;SGVEP=PARP1|-|NM_001618|3|c.287-78G>A|.|intronic GT:DP:AD:DP4 0/1:12:5,7:3,2,3,4 1 226589833 145759521 T C 391 off_target VARTYPE=1;BGN=0.000965875;ARL=235;DER=30;DEA=20;QR=35;QA=38;PBP=206;PBM=190;TYPE=SNP;DBXREF=dbSNP:rs1805407,g1000:0.2626,ExAC:0.1940,PhyloP:-1.4680,SIFT:0.0000,MutationTaster:0.0000,GERP:-5.3000,GnomAD_AC_exome:45468,GnomAD_AN_exome:239712,GnomAD_AC_genome:7263,GnomAD_AN_genome:30870,GnomAD:0.1949;SGVEP=PARP1|-|NM_001618|2|c.286+82A>G|.|intronic GT:DP:AD:DP4 0/1:24:9,15:6,3,8,7 1 227069677 145829503 T C 1771 PASS VARTYPE=1;BGN=0.000965875;ARL=218;DEA=95;QA=38;PBP=932;PBM=842;TYPE=SNP;DBXREF=dbSNP:rs11405,g1000:0.7356,esp5400:0.7921,ExAC:0.7600,clinvar:rs11405,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:186297,GnomAD_AN_exome:246126,GnomAD_AC_genome:23758,GnomAD_AN_genome:30882,GnomAD:0.7583;SGVEP=PSEN2|+|NM_000447|4|c.69T>C|p.(Ala23:)|synonymous GT:DP:AD:DP4 1/1:59:0,59:0,0,31,28 1 227069737 145829546 C T 1282 PASS VARTYPE=1;BGN=0.0013919;ARL=217;DEA=49;QA=36;PBP=656;PBM=628;TYPE=SNP;DBXREF=dbSNP:rs6759,g1000:0.4433,esp5400:0.4883,ExAC:0.4980,clinvar:rs6759,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:123175,GnomAD_AN_exome:245104,GnomAD_AC_genome:14730,GnomAD_AN_genome:30882,GnomAD:0.4997;SGVEP=PSEN2|+|NM_000447|4|c.129C>T|p.(Asn43:)|synonymous GT:DP:AD:DP4 1/1:45:0,45:0,0,23,22 1 227071364 145829840 G A 656 off_target VARTYPE=1;BGN=0.0013919;ARL=225;DEA=49;QA=36;PBP=371;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs1295643,g1000:0.4433,esp5400:0.4867,ExAC:0.4820,GnomAD_AC_exome:110430,GnomAD_AN_exome:222364,GnomAD_AC_genome:14753,GnomAD_AN_genome:30900,GnomAD:0.4943;SGVEP=PSEN2|+|NM_000447|5|c.142-42G>A|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,13,10 1 227071377 145829851 T C 713 off_target VARTYPE=1;BGN=0.0013919;ARL=223;DEA=50;QA=36;PBP=371;PBM=343;TYPE=SNP;DBXREF=dbSNP:rs1295644,g1000:0.6244,esp5400:0.7093,ExAC:0.7090,GnomAD_AC_exome:167023,GnomAD_AN_exome:233596,GnomAD_AC_genome:21332,GnomAD_AN_genome:30910,GnomAD:0.7121;SGVEP=PSEN2|+|NM_000447|5|c.142-29T>C|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,13,12 1 227071525 145829982 C T 1463 PASS VARTYPE=1;BGN=0.00115949;ARL=204;DEA=92;QA=37;PBP=850;PBM=616;TYPE=SNP;DBXREF=dbSNP:rs1046240,g1000:0.4433,esp5400:0.4889,ExAC:0.4990,clinvar:rs1046240,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:123821,GnomAD_AN_exome:246166,GnomAD_AC_genome:14722,GnomAD_AN_genome:30840,GnomAD:0.5001;SGVEP=PSEN2|+|NM_000447|5|c.261C>T|p.(His87:)|synonymous GT:DP:AD:DP4 1/1:50:0,50:0,0,29,21 1 227073410 145830503 G C 1929 off_target VARTYPE=1;BGN=0.00115949;ARL=232;DEA=54;QA=37;PBP=850;PBM=1084;TYPE=SNP;DBXREF=dbSNP:rs2236910,g1000:0.7356,esp5400:0.7920,ExAC:0.7590,GnomAD_AC_exome:179708,GnomAD_AN_exome:237758,GnomAD_AC_genome:23692,GnomAD_AN_genome:30796,GnomAD:0.7574;SGVEP=PSEN2|+|NM_000447|6|c.498+30G>C|.|intronic GT:DP:AD:DP4 1/1:66:0,66:0,0,29,37 1 227073420 145830512 G A 537 off_target VARTYPE=1;BGN=0.00115949;ARL=243;DER=68;DEA=54;QR=35;QA=37;PBP=235;PBM=308;TYPE=SNP;DBXREF=dbSNP:rs144791481,g1000:0.0010,esp5400:0.0025,ExAC:0.0015,GnomAD_AC_exome:372,GnomAD_AN_exome:237002,GnomAD_AC_genome:38,GnomAD_AN_genome:30904,GnomAD:0.0015;SGVEP=PSEN2|+|NM_000447|6|c.498+40G>A|.|intronic GT:DP:AD:DP4 0/1:49:26,23:12,14,10,13 1 227078955 145831755 T C 1405 off_target VARTYPE=1;BGN=0.00115949;ARL=228;DEA=80;QA=37;PBP=703;PBM=703;TYPE=SNP;DBXREF=dbSNP:rs2802267,g1000:0.7228,esp5400:0.7791,ExAC:0.7550,GnomAD_AC_exome:181759,GnomAD_AN_exome:240536,GnomAD_AC_genome:23355,GnomAD_AN_genome:30878,GnomAD:0.7557;SGVEP=PSEN2|+|NM_000447|10|c.887-24T>C|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,24,24 1 227081622 145832411 A G 557 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=271;DEA=41;QA=37;PBP=293;PBM=264;TYPE=SNP;DBXREF=dbSNP:rs10753428,g1000:0.7001,GnomAD_AC_genome:23297,GnomAD_AN_genome:30892,GnomAD:0.7541;SGVEP=PSEN2|+|NM_000447|12|c.1073-86A>G|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,10,9 1 227081850 145832564 G A 1813 off_target VARTYPE=1;BGN=0.00115949;ARL=237;DEA=64;QA=37;PBP=850;PBM=967;TYPE=SNP;DBXREF=dbSNP:rs2855562,g1000:0.5741,esp5400:0.5367,ExAC:0.5720,GnomAD_AC_exome:141402,GnomAD_AN_exome:244240,GnomAD_AC_genome:16775,GnomAD_AN_genome:30840,GnomAD:0.5750;SGVEP=PSEN2|+|NM_000447|12|c.1191+24G>A|.|intronic GT:DP:AD:DP4 1/1:62:0,62:0,0,29,33 1 227165097 145842985 G A 781 off_target VARTYPE=1;BGN=0.00115949;ARL=249;DER=78;DEA=64;QR=38;QA=37;PBP=428;PBM=361;TYPE=SNP;DBXREF=dbSNP:rs3806263,g1000:0.2626,esp5400:0.2219,GnomAD_AC_genome:7839,GnomAD_AN_genome:30838,GnomAD:0.2542;SGVEP=COQ8A|+|NM_020247|5|c.656-53G>A|.|intronic GT:DP:AD:DP4 0/1:65:32,33:18,14,18,15 1 227170298 145844287 A G 194 off_target VARTYPE=1;BGN=0.00115949;ARL=237;DER=42;DEA=24;QR=36;QA=37;PBP=112;PBM=87;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2297412,g1000:0.3560,GnomAD_AC_genome:13269,GnomAD_AN_genome:30564,GnomAD:0.4341;SGVEP=COQ8A|+|NM_020247|7|c.854-81A>G|.|intronic GT:DP:AD:DP4 0/1:29:20,9:10,10,5,4 1 227170543 145844428 C G 533 off_target VARTYPE=1;BGN=0.0013919;ARL=239;DER=72;DEA=111;QR=34;QA=36;PBP=256;PBM=284;TYPE=SNP;DBXREF=dbSNP:rs2297413,g1000:0.1983,esp5400:0.1942,GnomAD_AC_genome:6158,GnomAD_AN_genome:30852,GnomAD:0.1996;SGVEP=COQ8A|+|NM_020247|8|c.940-52C>G|.|intronic GT:DP:AD:DP4 0/1:44:21,23:11,10,11,12 1 227171584 145845020 GTTT GTT 230 off_target VARTYPE=1;BGN=0.0168436;ARL=220;DER=30;DEA=42;QR=34;QA=34;HL=3;PBP=96;PBM=140;SP=1;TYPE=INDEL;DBXREF=dbSNP:rs397840166,g1000:0.2622,ExAC:0.3400,GnomAD_AC_exome:78819,GnomAD_AN_exome:223692,GnomAD_AC_genome:11171,GnomAD_AN_genome:30834,GnomAD:0.3536;SGVEP=COQ8A|+|NM_020247|10|c.1256+32del|.|intronic GT:DP:AD:DP4 0/1:39:20,19:10,10,8,11 1 227171737 145845065 G T 308 off_target VARTYPE=1;BGN=0.00167091;ARL=217;DER=29;DEA=53;QR=27;QA=35;PBP=191;PBM=121;TYPE=SNP;DBXREF=dbSNP:rs1574184,g1000:0.2812,GnomAD_AC_genome:6643,GnomAD_AN_genome:22944,GnomAD:0.2895;SGVEP=COQ8A|+|NM_020247|11|c.1257-58G>T|.|intronic GT:DP:AD:DP4 0/1:21:8,13:5,3,8,5 1 227171739 145845084 G C 200 off_target VARTYPE=1;BGN=0.0013919;ARL=215;DER=15;DEA=30;QR=10;QA=36;PBP=162;PBM=44;SP=2;TYPE=SNP;DBXREF=dbSNP:rs1574185,GnomAD_AC_genome:3346,GnomAD_AN_genome:27838,GnomAD:0.1202;SGVEP=COQ8A|+|NM_020247|11|c.1257-56G>C|.|intronic GT:DP:AD:DP4 0/1:22:0,9:0,0,7,2 1 227171739 145845085 G T 304 off_target VARTYPE=1;BGN=0.00167091;ARL=215;DER=15;DEA=55;QR=10;QA=35;PBP=184;PBM=126;TYPE=SNP;DBXREF=dbSNP:rs1574185,g1000:0.2802,GnomAD_AC_genome:6408,GnomAD_AN_genome:27838,GnomAD:0.2302;SGVEP=COQ8A|+|NM_020247|11|c.1257-56G>T|.|intronic GT:DP:AD:DP4 0/1:22:0,13:0,0,8,5 1 227172290 116518 C T 982 PASS VARTYPE=1;BGN=0.00115949;ARL=234;DER=111;DEA=112;QR=37;QA=37;PBP=522;PBM=471;TYPE=SNP;DBXREF=dbSNP:rs12593,g1000:0.2386,esp5400:0.3693,ExAC:0.3520,clinvar:rs12593,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:87075,GnomAD_AN_exome:246248,GnomAD_AC_genome:10658,GnomAD_AN_genome:30824,GnomAD:0.3527;SGVEP=COQ8A|+|NM_020247|12|c.1440C>T|p.(Phe480:)|synonymous GT:DP:AD:DP4 0/1:108:64,44:32,32,23,21 1 227172903 145845681 G A 285 off_target VARTYPE=1;BGN=0.00115949;ARL=220;DER=22;DEA=48;QR=37;QA=37;PBP=170;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs2297415,g1000:0.2696,esp5400:0.4106,GnomAD_AC_genome:11467,GnomAD_AN_genome:30826,GnomAD:0.3720;SGVEP=COQ8A|+|NM_020247|14|c.1573-52G>A|.|intronic GT:DP:AD:DP4 0/1:25:13,12:7,6,7,5 1 227172935 145845718 C G 346 off_target VARTYPE=1;BGN=0.0013919;ARL=218;DER=49;DEA=69;QR=37;QA=36;PBP=210;PBM=142;TYPE=SNP;DBXREF=dbSNP:rs2297416,g1000:0.2652,esp5400:0.3936,ExAC:0.3620,GnomAD_AC_exome:88772,GnomAD_AN_exome:244988,GnomAD_AC_genome:11318,GnomAD_AN_genome:30826,GnomAD:0.3629;SGVEP=COQ8A|+|NM_020247|14|c.1573-20C>G|.|intronic GT:DP:AD:DP4 0/1:30:15,15:9,6,9,6 1 227174145 145846115 T C 568 off_target VARTYPE=1;BGN=0.00115949;ARL=220;DER=76;DEA=57;QR=36;QA=37;PBP=308;PBM=267;TYPE=SNP;DBXREF=dbSNP:rs7552783,g1000:0.3516,esp5400:0.4691,ExAC:0.4140,clinvar:rs7552783,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:99770,GnomAD_AN_exome:243250,GnomAD_AC_genome:13454,GnomAD_AN_genome:30706,GnomAD:0.4133;SGVEP=COQ8A|+|NM_020247|15|c.1660-9T>C|.|intronic GT:DP:AD:DP4 0/1:48:24,24:14,10,13,11 1 227174210 116541 T C 1378 PASS VARTYPE=1;BGN=0.00115949;ARL=208;DER=94;DEA=87;QR=35;QA=37;PBP=735;PBM=654;TYPE=SNP;DBXREF=dbSNP:rs3738725,g1000:0.3139,esp5400:0.4365,ExAC:0.4050,clinvar:rs3738725,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:99177,GnomAD_AN_exome:245916,GnomAD_AC_genome:12531,GnomAD_AN_genome:30678,GnomAD:0.4039;SGVEP=COQ8A|+|NM_020247|15|c.1716T>C|p.(Ser572:)|synonymous GT:DP:AD:DP4 0/1:101:44,57:22,22,30,27 1 228345912 145987080 CGAG C 205 low_variant_fraction VARTYPE=1;BGN=0.000965875;ARL=214;DER=96;DEA=76;QR=34;QA=108;PBP=78;PBM=134;SP=2;TYPE=INDEL;DBXREF=dbSNP:rs746050475,GnomAD_AC_exome:3250,GnomAD_AN_exome:40156,GnomAD_AC_genome:23,GnomAD_AN_genome:28710,GnomAD:0.0475;SGVEP=GJC2|+|NM_020435|2|c.472_474del|p.(Glu158del)|inframe_3 GT:DP:AD:DP4 0/1:162:148,13:71,77,5,8 1 228399482 145996067 C G 2250 PASS VARTYPE=1;BGN=0.00115949;ARL=220;DEA=82;QA=37;PBP=1200;PBM=1054;TYPE=SNP;DBXREF=dbSNP:rs11804508,g1000:0.7210,esp5400:0.6303,ExAC:0.6240,GnomAD_AC_exome:110756,GnomAD_AN_exome:170918,GnomAD_AC_genome:19629,GnomAD_AN_genome:30644,GnomAD:0.6469;SGVEP=OBSCN|+|NM_001098623|2|c.-3C>G|.|5'UTR GT:DP:AD:DP4 1/1:77:0,77:0,0,41,36 1 228399766 145996218 T C 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=218;DEA=96;QA=37;PBP=2424;PBM=2579;TYPE=SNP;DBXREF=dbSNP:rs55971985,g1000:0.7262,esp5400:0.6439,ExAC:0.5500,GnomAD_AC_exome:89052,GnomAD_AN_exome:135746,GnomAD_AC_genome:19767,GnomAD_AN_genome:30584,GnomAD:0.6542;SGVEP=OBSCN|+|NM_001098623|2|c.282T>C|p.(Ala94:)|synonymous GT:DP:AD:DP4 1/1:173:0,172:0,0,83,89 1 228402047 145997025 A G 10000 PASS VARTYPE=1;BGN=0.0013919;ARL=222;DEA=86;QA=36;PBP=1907;PBM=2049;TYPE=SNP;DBXREF=dbSNP:rs1620111,g1000:0.7198,esp5400:0.6340,ExAC:0.6530,GnomAD_AC_exome:159679,GnomAD_AN_exome:245110,GnomAD_AC_genome:19728,GnomAD_AN_genome:30810,GnomAD:0.6502;SGVEP=OBSCN|+|NM_001098623|4|c.1431A>G|p.(Leu477:)|synonymous GT:DP:AD:DP4 1/1:139:0,139:0,0,67,72 1 228402121 145997092 A G 1638 PASS VARTYPE=1;BGN=0.00115949;ARL=237;DEA=77;QA=37;PBP=791;PBM=850;TYPE=SNP;DBXREF=dbSNP:rs1771487,g1000:0.7196,esp5400:0.6276,ExAC:0.6520,PhyloP:1.9790,SIFT:0.0990,PolyPhen2:0.0160,PolyPhen2_HumDiv:0.0180,LRT:1.0000,MutationTaster:1.0000,GERP:5.2700,GnomAD_AC_exome:158816,GnomAD_AN_exome:243696,GnomAD_AC_genome:19699,GnomAD_AN_genome:30766,GnomAD:0.6504;SGVEP=OBSCN|+|NM_001098623|4|c.1505A>G|p.(Gln502Arg)|missense GT:DP:AD:DP4 1/1:56:0,56:0,0,27,29 1 228404997 145998396 C T 718 off_target VARTYPE=1;BGN=0.000965875;ARL=244;DER=89;DEA=104;QR=35;QA=38;PBP=350;PBM=376;TYPE=SNP;DBXREF=dbSNP:rs115777899,g1000:0.0170,esp5400:0.0281,ExAC:0.0310,GnomAD_AC_exome:6787,GnomAD_AN_exome:228854,GnomAD_AC_genome:796,GnomAD_AN_genome:30952,GnomAD:0.0292;SGVEP=OBSCN|+|NM_001098623|8|c.2653+8C>T|.|intronic GT:DP:AD:DP4 0/1:77:46,31:23,23,15,16 1 228407059 145998815 G T 1615 PASS VARTYPE=1;BGN=0.00115949;ARL=207;DER=72;DEA=60;QR=37;QA=37;PBP=862;PBM=766;TYPE=SNP;DBXREF=dbSNP:rs141906801,g1000:0.0136,ExAC:0.0260,GnomAD_AC_exome:6229,GnomAD_AN_exome:244250,GnomAD_AC_genome:716,GnomAD_AN_genome:30950,GnomAD:0.0252;SGVEP=OBSCN|+|NM_001271223|9|c.2688G>T|p.(Ala896:)|synonymous GT:DP:AD:DP4 0/1:111:45,66:24,21,35,31 1 228444565 146004524 T A 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=212;DEA=95;QA=37;PBP=2279;PBM=2366;TYPE=SNP;DBXREF=dbSNP:rs7532342,g1000:1.0000,ExAC:1.0000,PhyloP:0.6170,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:1.0000,MutationTaster:1.0000,GERP:4.6000,GnomAD_AC_exome:246092,GnomAD_AN_exome:246092,GnomAD_AC_genome:30976,GnomAD_AN_genome:30976,GnomAD:1.0000;SGVEP=OBSCN|+|NM_001098623|15|c.4523T>A|p.(Val1508Asp)|missense GT:DP:AD:DP4 1/1:159:0,159:0,0,78,81 1 228461408 146007341 AGGG AGGGG 505 off_target VARTYPE=1;BGN=0.0168436;ARL=255;DER=4;DEA=78;QR=32;QA=36;HL=3;PBP=272;PBM=237;TYPE=INDEL;DBXREF=dbSNP:rs869120087,GnomAD_AC_genome:30908,GnomAD_AN_genome:30908,GnomAD:1.0000;SGVEP=OBSCN|+|NM_001098623|18|c.5138-60dupG|.|intronic GT:DP:AD:DP4 1/1:32:2,30:1,1,16,14 1 228461900 146007559 G A 1447 PASS VARTYPE=1;BGN=0.00115949;ARL=227;DER=78;DEA=82;QR=36;QA=37;PBP=711;PBM=747;TYPE=SNP;DBXREF=dbSNP:rs201775103,g1000:0.0004,esp5400:0.0001,ExAC:0.0005,PhyloP:-0.2470,SIFT:0.7900,PolyPhen2:0.4050,PolyPhen2_HumDiv:0.9850,LRT:0.5230,MutationTaster:0.0000,GERP:-1.1200,GnomAD_AC_exome:132,GnomAD_AN_exome:240048,GnomAD_AC_genome:2,GnomAD_AN_genome:30952,GnomAD:0.0005;SGVEP=OBSCN|+|NM_001098623|19|c.5438G>A|p.(Arg1813Gln)|missense GT:DP:AD:DP4 0/1:116:55,61:29,26,30,31 1 228523447 146026351 T C 837 off_target VARTYPE=1;BGN=0.00115949;ARL=221;DER=47;DEA=56;QR=37;QA=37;PBP=434;PBM=411;TYPE=SNP;DBXREF=dbSNP:rs10799473,g1000:0.8135,esp5400:0.8726,ExAC:0.8080,GnomAD_AC_exome:198274,GnomAD_AN_exome:245600,GnomAD_AC_genome:26657,GnomAD_AN_genome:30838,GnomAD:0.8137;SGVEP=OBSCN|+|NM_001098623|63|c.16406-45T>C|.|intronic GT:DP:AD:DP4 0/1:50:17,33:9,8,17,16 1 228526742 146027517 CCA C 307 off_target VARTYPE=1;BGN=0.000965875;ARL=219;DER=51;DEA=122;QR=35;QA=73;PBP=135;PBM=179;TYPE=INDEL;DBXREF=dbSNP:rs71180791,ExAC:0.0180,GnomAD_AC_exome:3379,GnomAD_AN_exome:19624,GnomAD_AC_genome:3095,GnomAD_AN_genome:27736,GnomAD:0.1367;SGVEP=OBSCN|+|NM_001098623|69|c.17258+49_17258+50del|.|intronic GT:DP:AD:DP4 0/1:92:73,16:36,37,7,9 1 228540542 146029918 G A 472 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=254;DEA=53;QA=35;PBP=222;PBM=250;TYPE=SNP;DBXREF=dbSNP:rs6695278,g1000:0.4615,GnomAD_AC_genome:13214,GnomAD_AN_genome:30828,GnomAD:0.4286;SGVEP=OBSCN|+|NM_001098623|79|c.18550-110G>A|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,8,9 1 228547901 146031097 C T 3207 PASS VARTYPE=1;BGN=0.00115949;ARL=231;DEA=106;QA=37;PBP=1638;PBM=1580;TYPE=SNP;DBXREF=dbSNP:rs12035900,g1000:0.2987,esp5400:0.2517,ExAC:0.3100,GnomAD_AC_exome:76345,GnomAD_AN_exome:245032,GnomAD_AC_genome:7539,GnomAD_AN_genome:30826,GnomAD:0.3041;SGVEP=OBSCN|+|NM_052843|81|c.19308C>T|p.(Asp6436:)|synonymous GT:DP:AD:DP4 1/1:110:0,110:0,0,56,54 1 228556788 146033198 C T 1311 off_target VARTYPE=1;BGN=0.0013919;ARL=241;DEA=99;QA=36;PBP=628;PBM=685;TYPE=SNP;DBXREF=dbSNP:rs3738685,g1000:0.3205,esp5400:0.3090,ExAC:0.3310,GnomAD_AC_exome:74888,GnomAD_AN_exome:213616,GnomAD_AC_genome:9548,GnomAD_AN_genome:30846,GnomAD:0.3454;SGVEP=OBSCN|+|NM_001098623|90|c.19941-49C>T|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,22,24 1 228559994 146034397 C T 1050 PASS VARTYPE=1;BGN=0.00115949;ARL=236;DER=103;DEA=85;QR=36;QA=37;PBP=555;PBM=506;TYPE=SNP;DBXREF=dbSNP:rs500049,g1000:0.5891,esp5400:0.5548,ExAC:0.4870,PhyloP:0.5870,SIFT:0.7920,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0040,MutationTaster:0.9810,GERP:3.7100,GnomAD_AC_exome:95721,GnomAD_AN_exome:185114,GnomAD_AC_genome:16596,GnomAD_AN_genome:30900,GnomAD:0.5200;SGVEP=OBSCN|+|NM_001098623|94|c.21515C>T|p.(Ala7172Val)|missense GT:DP:AD:DP4 0/1:103:57,46:29,28,24,22 1 228560139 146034491 A G 3083 PASS VARTYPE=1;BGN=0.00115949;ARL=236;DER=46;DEA=112;QR=31;QA=37;PBP=1504;PBM=1592;TYPE=SNP;DBXREF=dbSNP:rs498382,g1000:0.9742,esp5400:0.9451,ExAC:0.9280,PhyloP:-0.0040,MutationTaster:0.9480,GERP:0.2960,GnomAD_AC_exome:160996,GnomAD_AN_exome:170628,GnomAD_AC_genome:29080,GnomAD_AN_genome:30884,GnomAD:0.9432;SGVEP=OBSCN|+|NM_001098623|94|c.21660A>G|p.(Ser7220:)|synonymous GT:DP:AD:DP4 1/1:109:2,107:1,1,52,55 1 228560700 146034806 T C 10000 PASS VARTYPE=1;BGN=0.0013919;ARL=227;DEA=108;QA=36;PBP=1822;PBM=1793;TYPE=SNP;DBXREF=dbSNP:rs512253,g1000:0.7580,esp5400:0.6532,ExAC:0.6280,PhyloP:-1.7940,MutationTaster:0.9760,GERP:-7.6500,GnomAD_AC_exome:131932,GnomAD_AN_exome:208688,GnomAD_AC_genome:19960,GnomAD_AN_genome:30840,GnomAD:0.6341;SGVEP=OBSCN|+|NM_001098623|94|c.22221T>C|p.(Asp7407:)|synonymous GT:DP:AD:DP4 1/1:127:0,127:0,0,64,63 1 228612838 146042561 G T 10000 PASS VARTYPE=1;BGN=0.0013919;ARL=219;DEA=107;QA=36;PBP=2869;PBM=2756;TYPE=SNP;DBXREF=dbSNP:rs2230656,g1000:0.6903,esp5400:0.7260,ExAC:0.8210,GnomAD_AC_exome:205157,GnomAD_AN_exome:246254,GnomAD_AC_genome:22467,GnomAD_AN_genome:30916,GnomAD:0.8212;SGVEP=HIST3H3|-|NM_003493|1|c.189C>A|p.(Ile63:)|synonymous GT:DP:AD:DP4 1/1:198:0,198:0,0,101,97 1 228613052 146042831 T C 2020 off_target VARTYPE=1;BGN=0.0013919;ARL=223;DEA=58;QA=36;PBP=912;PBM=1112;TYPE=SNP;DBXREF=dbSNP:rs1188474,g1000:0.8662,esp5400:0.9073,ExAC:0.8750,GnomAD_AC_exome:214401,GnomAD_AN_exome:244222,GnomAD_AC_genome:27165,GnomAD_AN_genome:30922,GnomAD:0.8780;SGVEP=HIST3H3|-|NM_003493|1|.|.|intergenic GT:DP:AD:DP4 1/1:71:0,71:0,0,32,39 1 229567660 116661 CGG CGGG 350 off_target VARTYPE=1;BGN=0.0135939;ARL=222;DER=83;DEA=80;QR=36;QA=37;HL=2;PBP=188;PBM=169;TYPE=INDEL;DBXREF=dbSNP:rs201427429,clinvar:rs201427429,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:29207,GnomAD_AN_exome:227098,GnomAD_AC_genome:4234,GnomAD_AN_genome:30466,GnomAD:0.1298;SGVEP=ACTA1|-|NM_001100|6|c.809-12dupC|.|intronic GT:DP:AD:DP4 0/1:69:39,29:19,20,15,14 1 229567663 116667 C G 666 off_target VARTYPE=1;BGN=0.00115949;ARL=224;DER=84;DEA=76;QR=36;QA=37;PBP=350;PBM=324;TYPE=SNP;DBXREF=dbSNP:rs6673359,g1000:0.1394,esp5400:0.1429,clinvar:rs6673359,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:45625,GnomAD_AN_exome:234046,GnomAD_AC_genome:7527,GnomAD_AN_genome:30580,GnomAD:0.2009;SGVEP=ACTA1|-|NM_001100|6|c.809-14G>C|.|intronic GT:DP:AD:DP4 0/1:65:36,29:18,18,15,14 1 229567683 116674 TC T 706 off_target VARTYPE=1;BGN=0.0013919;ARL=223;DER=109;DEA=83;QR=33;QA=36;PBP=358;PBM=358;TYPE=INDEL;DBXREF=dbSNP:rs59228224,g1000:0.2095,ExAC:0.1680,clinvar:rs59228224,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:31414,GnomAD_AN_exome:215206,GnomAD_AC_genome:5933,GnomAD_AN_genome:30360,GnomAD:0.1521;SGVEP=ACTA1|-|NM_001100|6|c.809-35del|.|intronic GT:DP:AD:DP4 0/1:73:37,32:19,18,16,16 1 229568231 146147611 T G 628 off_target VARTYPE=1;BGN=0.0013919;ARL=235;DEA=71;QA=36;PBP=485;PBM=143;TYPE=SNP;DBXREF=dbSNP:rs527621,g1000:0.9990,GnomAD_AC_genome:28607,GnomAD_AN_genome:28630,GnomAD:0.9992;SGVEP=ACTA1|-|NM_001100|4|c.455-53A>C|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,17,5 1 229568632 116747 A G 1022 PASS VARTYPE=1;BGN=0.00115949;ARL=240;DER=112;DEA=101;QR=35;QA=37;PBP=506;PBM=526;TYPE=SNP;DBXREF=dbSNP:rs11803533,g1000:0.2740,esp5400:0.2722,ExAC:0.2090,clinvar:rs11803533,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:50989,GnomAD_AN_exome:245740,GnomAD_AC_genome:7732,GnomAD_AN_genome:30818,GnomAD:0.2123;SGVEP=ACTA1|-|NM_001100|3|c.130-5T>C|.|intronic GT:DP:AD:DP4 0/1:103:58,45:28,30,22,23 1 229568637 116749 C G 980 off_target VARTYPE=1;BGN=0.0013919;ARL=240;DER=115;DEA=96;QR=36;QA=36;PBP=477;PBM=513;TYPE=SNP;DBXREF=dbSNP:rs41271481,g1000:0.2119,esp5400:0.2050,ExAC:0.1860,clinvar:rs41271481,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:46228,GnomAD_AN_exome:245578,GnomAD_AC_genome:6021,GnomAD_AN_genome:30820,GnomAD:0.1890;SGVEP=ACTA1|-|NM_001100|3|c.130-10G>C|.|intronic GT:DP:AD:DP4 0/1:106:61,45:33,28,22,23 1 229568934 146147820 AGGGGGGGG AGGGGGGG 123 off_target VARTYPE=1;BGN=0.0655172;ARL=252;DER=30;DEA=62;QR=37;QA=36;HL=8;PBP=55;PBM=74;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs397983133,GnomAD_AC_genome:8064,GnomAD_AN_genome:30664,GnomAD:0.2630;SGVEP=ACTA1|-|NM_001100|2|c.-12-61del|.|intronic GT:DP:AD:DP4 0/1:30:13,17:5,8,7,10 1 230371883 146226144 G A 544 off_target VARTYPE=1;BGN=0.0013919;ARL=232;DER=81;DEA=71;QR=36;QA=36;PBP=243;PBM=308;TYPE=SNP;DBXREF=dbSNP:rs3811488,g1000:0.6815,esp5400:0.5429,ExAC:0.5130,GnomAD_AC_exome:125154,GnomAD_AN_exome:242450,GnomAD_AC_genome:16903,GnomAD_AN_genome:30840,GnomAD:0.5198;SGVEP=GALNT2|+|NM_001291866|4|c.359+25G>A|.|intronic GT:DP:AD:DP4 0/1:61:36,25:16,20,11,14 1 230386341 146228020 T A 240 off_target VARTYPE=1;BGN=0.00115949;ARL=234;DER=53;DEA=91;QR=37;QA=37;PBP=112;PBM=133;TYPE=SNP;DBXREF=dbSNP:rs2273966,g1000:0.2833,esp5400:0.3493,ExAC:0.3050,GnomAD_AC_exome:63924,GnomAD_AN_exome:210344,GnomAD_AC_genome:10059,GnomAD_AN_genome:30860,GnomAD:0.3067;SGVEP=GALNT2|+|NM_001291866|10|c.895+35T>A|.|intronic GT:DP:AD:DP4 0/1:33:22,11:10,12,5,6 1 230410162 146230032 C T 388 off_target VARTYPE=1;BGN=0.00115949;ARL=229;DER=57;DEA=65;QR=37;QA=37;PBP=199;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs12091838,g1000:0.1342,esp5400:0.1751,ExAC:0.1290,GnomAD_AC_exome:30866,GnomAD_AN_exome:242696,GnomAD_AC_genome:4749,GnomAD_AN_genome:30944,GnomAD:0.1302;SGVEP=GALNT2|+|NM_001291866|15|c.1327-29C>T|.|intronic GT:DP:AD:DP4 0/1:54:36,18:17,19,9,9 1 230410374 146230122 G A 329 off_target VARTYPE=1;BGN=0.00115949;ARL=232;DER=66;DEA=36;QR=36;QA=37;PBP=167;PBM=167;TYPE=SNP;DBXREF=dbSNP:rs17710666,g1000:0.0256,GnomAD_AC_genome:1200,GnomAD_AN_genome:30888,GnomAD:0.0389;SGVEP=GALNT2|+|NM_001291866|15|c.1446+64G>A|.|intronic GT:DP:AD:DP4 0/1:30:16,14:8,8,7,7 1 230415025 146230623 A G 1221 off_target VARTYPE=1;BGN=0.00115949;ARL=238;DER=66;DEA=56;QR=36;QA=37;PBP=686;PBM=545;TYPE=SNP;DBXREF=dbSNP:rs6698963,g1000:0.7228,esp5400:0.5933,ExAC:0.5560,GnomAD_AC_exome:133240,GnomAD_AN_exome:241048,GnomAD_AC_genome:17928,GnomAD_AN_genome:30864,GnomAD:0.5559;SGVEP=GALNT2|+|NM_001291866|16|c.1447-24A>G|.|intronic GT:DP:AD:DP4 0/1:78:29,49:14,15,27,22 1 230778491 146264464 G C 937 off_target VARTYPE=1;BGN=0.00115949;ARL=244;DEA=52;QA=37;PBP=440;PBM=499;TYPE=SNP;DBXREF=dbSNP:rs4846864,g1000:0.8205,GnomAD_AC_genome:22305,GnomAD_AN_genome:30922,GnomAD:0.7213;SGVEP=COG2|+|NM_001145036|1|c.72+67G>C|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,15,17 1 230795177 146265809 T C 1025 off_target VARTYPE=1;BGN=0.00115949;ARL=234;DEA=56;QA=37;PBP=528;PBM=499;TYPE=SNP;DBXREF=dbSNP:rs1359866,g1000:0.7558,esp5400:0.6535,ExAC:0.6760,GnomAD_AC_exome:165931,GnomAD_AN_exome:244422,GnomAD_AC_genome:20707,GnomAD_AN_genome:30898,GnomAD:0.6779;SGVEP=COG2|+|NM_001145036|2|c.73-33T>C|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,18,17 1 230820763 146268619 C CACATT 178 off_target VARTYPE=1;BGN=0.000965875;ARL=266;DER=55;DEA=65;QR=37;QA=178;PBP=92;PBM=91;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs397701344,g1000:0.2330,GnomAD_AC_genome:10156,GnomAD_AN_genome:29852,GnomAD:0.3402;SGVEP=COG2|+|NM_001145036|12|c.1229-66_1229-62dup|.|intronic GT:DP:AD:DP4 0/1:27:19,8:9,10,4,4 1 230820780 146268622 TAAAA TAAA 343 off_target VARTYPE=1;BGN=0.0219187;ARL=253;DER=76;DEA=55;QR=35;QA=37;HL=4;PBP=177;PBM=172;TYPE=INDEL;DBXREF=dbSNP:rs3215851,g1000:0.3067,ExAC:0.2970,GnomAD_AC_exome:69636,GnomAD_AN_exome:239958,GnomAD_AC_genome:9375,GnomAD_AN_genome:30906,GnomAD:0.2917;SGVEP=COG2|+|NM_001145036|12|c.1229-47del|.|intronic GT:DP:AD:DP4 0/1:37:11,26:5,6,13,13 1 230822607 146268750 G A 557 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=263;DEA=47;QA=37;PBP=264;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs1536591,g1000:0.5974,GnomAD_AC_genome:21275,GnomAD_AN_genome:30924,GnomAD:0.6880;SGVEP=COG2|+|NM_001145036|13|c.1381-74G>A|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,9,10 1 230828987 146269544 C A 511 off_target VARTYPE=1;BGN=0.00115949;ARL=218;DER=58;DEA=62;QR=38;QA=37;PBP=259;PBM=259;TYPE=SNP;DBXREF=dbSNP:rs2478534,g1000:0.2256,esp5400:0.3260,ExAC:0.3460,GnomAD_AC_exome:80896,GnomAD_AN_exome:232324,GnomAD_AC_genome:10075,GnomAD_AN_genome:30784,GnomAD:0.3458;SGVEP=COG2|+|NM_001145036|18|c.2113-51C>A|.|intronic GT:DP:AD:DP4 0/1:48:24,22:12,12,11,11 1 230841687 146270853 T C 2220 PASS VARTYPE=1;BGN=0.00115949;ARL=214;DEA=52;QA=37;PBP=1142;PBM=1084;TYPE=SNP;DBXREF=dbSNP:rs7080,g1000:0.9726,esp5400:0.9413,ExAC:0.9440,clinvar:rs7080,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:232098,GnomAD_AN_exome:245698,GnomAD_AC_genome:29287,GnomAD_AN_genome:30916,GnomAD:0.9449;SGVEP=AGT|-|NM_000029|3|c.1116A>G|p.(Leu372:)|synonymous GT:DP:AD:DP4 1/1:76:0,76:0,0,39,37 1 230845794 116773 A G 668 PASS VARTYPE=1;BGN=0.00115949;ARL=230;DER=99;DEA=66;QR=38;QA=37;PBP=347;PBM=329;TYPE=SNP;DBXREF=dbSNP:rs699,g1000:0.7051,esp5400:0.5613,ExAC:0.5480,PhyloP:-0.2420,SIFT:0.0440,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.5610,MutationTaster:0.0000,GERP:-0.3720,clinvar:rs699,CLNSIG:Benign|risk_factor,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:134491,GnomAD_AN_exome:246138,GnomAD_AC_genome:17866,GnomAD_AN_genome:30888,GnomAD:0.5500;SGVEP=AGT|-|NM_000029|2|c.803T>C|p.(Met268Thr)|missense GT:DP:AD:DP4 0/1:64:35,29:19,16,15,14 1 231502245 146347226 T A 968 off_target VARTYPE=1;BGN=0.00115949;ARL=194;DEA=46;QA=37;PBP=469;PBM=528;TYPE=SNP;DBXREF=dbSNP:rs1435167,g1000:0.4297,esp5400:0.4466,GnomAD_AC_genome:17220,GnomAD_AN_genome:30104,GnomAD:0.5720;SGVEP=EGLN1|-|NM_022051|5|c.1217-24A>T|.|intronic GT:DP:AD:DP4 1/1:36:0,34:0,0,16,18 1 231502310 146347248 T C 297 low_coverage;off_target VARTYPE=1;BGN=0.00200585;ARL=198;DEA=25;QA=34;PBP=108;PBM=189;TYPE=SNP;DBXREF=dbSNP:rs1435166,g1000:0.4712,GnomAD_AC_genome:16573,GnomAD_AN_genome:30892,GnomAD:0.5365;SGVEP=EGLN1|-|NM_022051|5|c.1217-89A>G|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,4,7 1 231506557 146347727 G A 791 off_target VARTYPE=1;BGN=0.00115949;ARL=259;DEA=28;QA=37;PBP=352;PBM=440;TYPE=SNP;DBXREF=dbSNP:rs2256908,g1000:0.4928,GnomAD_AC_genome:17319,GnomAD_AN_genome:30936,GnomAD:0.5598;SGVEP=EGLN1|-|NM_022051|3|c.1012-113C>T|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,12,15 1 231936016 146392215 A G 1434 off_target VARTYPE=1;BGN=0.00115949;ARL=234;DEA=49;QA=37;PBP=703;PBM=733;TYPE=SNP;DBXREF=dbSNP:rs2759354,g1000:0.9884,GnomAD_AC_genome:30618,GnomAD_AN_genome:30962,GnomAD:0.9889;SGVEP=DISC1|+|NM_001012957|8|c.1792+60A>G|.|intronic GT:DP:AD:DP4 1/1:49:0,49:0,0,24,25 1 232144598 146417617 A T 896 PASS VARTYPE=1;BGN=0.0013919;ARL=235;DER=109;DEA=99;QR=35;QA=36;PBP=451;PBM=454;TYPE=SNP;DBXREF=dbSNP:rs821616,g1000:0.2502,esp5400:0.2924,ExAC:0.2640,PhyloP:0.8390,SIFT:1.0000,PolyPhen2:0.9480,PolyPhen2_HumDiv:0.9990,LRT:1.0000,MutationTaster:0.0040,GERP:2.3700,GnomAD_AC_exome:62051,GnomAD_AN_exome:241962,GnomAD_AC_genome:8934,GnomAD_AN_genome:30892,GnomAD:0.2602;SGVEP=DISC1|+|NM_001012957|11|c.2110A>T|p.(Ser704Cys)|missense GT:DP:AD:DP4 0/1:85:45,40:23,22,20,20 1 235543476 146776249 TTGTGTGTGTGTGTG T 236 off_target VARTYPE=1;BGN=0.000965875;ARL=206;DER=48;DEA=87;QR=34;QA=507;PBP=98;PBM=145;SP=1;NVF=0.45;TYPE=INDEL;DBXREF=dbSNP:rs773226670,ExAC:0.1760,GnomAD_AC_exome:26886,GnomAD_AN_exome:172836,GnomAD_AC_genome:7271,GnomAD_AN_genome:21904,GnomAD:0.1754;SGVEP=TBCE|+|NM_001079515|2|c.100+52_100+65del|.|intronic GT:DP:AD:DP4 0/1:65:40,12:21,19,5,7 1 235543476 146776250 TTGTGTGTGTGTGTGTG T 166 off_target VARTYPE=1;BGN=0.000965875;ARL=206;DER=48;DEA=106;QR=34;QA=580;PBP=75;PBM=97;SP=1;NVF=0.45;TYPE=INDEL;DBXREF=dbSNP:rs145735844,ExAC:0.1100,GnomAD_AC_exome:13157,GnomAD_AN_exome:172836,GnomAD_AC_genome:1257,GnomAD_AN_genome:21904,GnomAD:0.0740;SGVEP=TBCE|+|NM_001079515|2|c.100+50_100+65del|.|intronic GT:DP:AD:DP4 0/1:65:40,9:21,19,4,5 1 235594182 146780270 A G 693 off_target VARTYPE=1;BGN=0.00167091;ARL=242;DEA=51;QA=35;PBP=333;PBM=361;TYPE=SNP;DBXREF=dbSNP:rs2291687,g1000:0.7338,GnomAD_AC_genome:22502,GnomAD_AN_genome:30930,GnomAD:0.7275;SGVEP=TBCE|+|NM_001079515|7|c.660+63A>G|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,12,13 1 235600605 146781366 C T 1067 off_target VARTYPE=1;BGN=0.0013919;ARL=235;DER=51;DEA=49;QR=36;QA=36;PBP=536;PBM=540;TYPE=SNP;DBXREF=dbSNP:rs12131040,g1000:0.0118,esp5400:0.0222,ExAC:0.0210,GnomAD_AC_exome:5417,GnomAD_AN_exome:246184,GnomAD_AC_genome:708,GnomAD_AN_genome:30962,GnomAD:0.0221;SGVEP=TBCE|+|NM_001079515|12|c.964-32C>T|.|intronic GT:DP:AD:DP4 0/1:85:39,46:20,19,23,23 1 235856538 146814193 GCC GCCC 280 low_coverage;off_target VARTYPE=1;BGN=0.0135939;ARL=268;DEA=31;QA=35;HL=2;PBP=149;PBM=131;TYPE=INDEL;DBXREF=dbSNP:rs397759940,g1000:0.9734,GnomAD_AC_genome:29455,GnomAD_AN_genome:30958,GnomAD:0.9515;SGVEP=LYST|-|NM_000081|47|c.10701+111dupG|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 1 235860340 146814829 C T 179 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=265;DER=88;DEA=34;QR=38;QA=38;PBP=105;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7541057,g1000:0.4000,esp5400:0.5820,ExAC:0.4280,clinvar:rs7541057,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:101349,GnomAD_AN_exome:240900,GnomAD_AC_genome:16880,GnomAD_AN_genome:30928,GnomAD:0.4349;SGVEP=LYST|-|NM_000081|46|c.10564+43G>A|.|intronic GT:DP:AD:DP4 0/1:13:6,7:3,3,4,3 1 235872665 146816020 T C 382 off_target VARTYPE=1;BGN=0.00115949;ARL=254;DER=57;DEA=54;QR=37;QA=37;PBP=182;PBM=207;TYPE=SNP;DBXREF=dbSNP:rs2275856,g1000:0.4137,GnomAD_AC_genome:15822,GnomAD_AN_genome:30892,GnomAD:0.5122;SGVEP=LYST|-|NM_000081|44|c.9926-57A>G|.|intronic GT:DP:AD:DP4 0/1:43:26,17:13,13,8,9 1 235878431 146816531 A AGTT 127 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=276;DER=53;DEA=37;QR=37;QA=109;PBP=77;PBM=53;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs776609322,g1000:0.1268,GnomAD_AC_genome:3035,GnomAD_AN_genome:30756,GnomAD:0.0987;SGVEP=LYST|-|NM_000081|42|c.9784+67_9784+69dup|.|intronic GT:DP:AD:DP4 0/1:10:5,5:3,2,3,2 1 235887276 146817501 G T 627 off_target VARTYPE=1;BGN=0.00115949;ARL=238;DER=41;DEA=51;QR=36;QA=37;PBP=324;PBM=309;TYPE=SNP;DBXREF=dbSNP:rs6667717,g1000:0.4117,esp5400:0.5530,GnomAD_AC_genome:15779,GnomAD_AN_genome:30920,GnomAD:0.5103;SGVEP=LYST|-|NM_000081|39|c.9315+52C>A|.|intronic GT:DP:AD:DP4 0/1:40:15,25:9,6,13,12 1 235896726 146818568 C T 322 off_target VARTYPE=1;BGN=0.0013919;ARL=235;DER=20;DEA=31;QR=34;QA=36;PBP=175;PBM=152;TYPE=SNP;DBXREF=dbSNP:rs6429275,g1000:0.4125,GnomAD_AC_genome:15798,GnomAD_AN_genome:30866,GnomAD:0.5118;SGVEP=LYST|-|NM_000081|34|c.8801+77G>A|.|intronic GT:DP:AD:DP4 0/1:20:7,13:4,3,7,6 1 235922228 146822321 T C 488 off_target VARTYPE=1;BGN=0.00115949;ARL=215;DER=54;DEA=19;QR=36;QA=37;PBP=244;PBM=251;TYPE=SNP;DBXREF=dbSNP:rs3738519,g1000:0.2300,esp5400:0.3226,ExAC:0.2470,clinvar:rs3738519,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:58905,GnomAD_AN_exome:243790,GnomAD_AC_genome:9758,GnomAD_AN_genome:30912,GnomAD:0.2500;SGVEP=LYST|-|NM_000081|23|c.6881+44A>G|.|intronic GT:DP:AD:DP4 0/1:36:16,20:9,7,10,10 1 235940450 146823893 C T 544 PASS VARTYPE=1;BGN=0.000965875;ARL=222;DER=103;DEA=94;QR=37;QA=38;PBP=289;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs2273584,g1000:0.3009,esp5400:0.4352,ExAC:0.3480,clinvar:rs2273584,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:84633,GnomAD_AN_exome:245886,GnomAD_AC_genome:12931,GnomAD_AN_genome:30842,GnomAD:0.3526;SGVEP=LYST|-|NM_000081|17|c.5373G>A|p.(Lys1791:)|synonymous GT:DP:AD:DP4 0/1:82:57,25:28,29,13,12 1 235945294 146824161 T C 646 PASS VARTYPE=1;BGN=0.000965875;ARL=189;DER=76;DEA=83;QR=38;QA=38;PBP=354;PBM=300;TYPE=SNP;DBXREF=dbSNP:rs6696123,g1000:0.3035,esp5400:0.4360,ExAC:0.3490,clinvar:rs6696123,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:84795,GnomAD_AN_exome:245592,GnomAD_AC_genome:12968,GnomAD_AN_genome:30880,GnomAD:0.3536;SGVEP=LYST|-|NM_000081|15|c.4956A>G|p.(Leu1652:)|synonymous GT:DP:AD:DP4 0/1:71:43,28:21,22,15,13 1 235972435 146830025 T C 2367 PASS VARTYPE=1;BGN=0.00115949;ARL=222;DER=113;DEA=96;QR=37;QA=37;PBP=1222;PBM=1166;TYPE=SNP;DBXREF=dbSNP:rs3820553,g1000:0.3027,esp5400:0.4366,ExAC:0.3500,clinvar:rs3820553,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:84855,GnomAD_AN_exome:245594,GnomAD_AC_genome:12981,GnomAD_AN_genome:30916,GnomAD:0.3538;SGVEP=LYST|-|NM_000081|5|c.1683A>G|p.(Leu561:)|synonymous GT:DP:AD:DP4 0/1:273:165,108:81,84,55,53 1 235972867 146830107 T C 1344 PASS VARTYPE=1;BGN=0.00115949;ARL=241;DER=119;DEA=109;QR=37;QA=37;PBP=705;PBM=650;TYPE=SNP;DBXREF=dbSNP:rs1063128,g1000:0.3033,esp5400:0.4364,ExAC:0.3500,clinvar:rs1063128,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:84795,GnomAD_AN_exome:245432,GnomAD_AC_genome:12959,GnomAD_AN_genome:30874,GnomAD:0.3538;SGVEP=LYST|-|NM_000081|5|c.1251A>G|p.(Gln417:)|synonymous GT:DP:AD:DP4 0/1:121:63,58:31,32,30,28 1 236557771 146891608 G A 996 PASS VARTYPE=1;BGN=0.00115949;ARL=184;DEA=88;QA=37;PBP=499;PBM=499;TYPE=SNP;DBXREF=dbSNP:rs966365,g1000:0.7768,esp5400:0.7410,ExAC:0.8310,PhyloP:0.4850,SIFT:1.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.6590,MutationTaster:0.0000,GERP:1.3300,clinvar:rs966365,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:207129,GnomAD_AN_exome:246220,GnomAD_AC_genome:23315,GnomAD_AN_genome:30946,GnomAD:0.8314;SGVEP=EDARADD|+|NM_145861|1|c.27G>A|p.(Met9Ile)|missense GT:DP:AD:DP4 1/1:34:0,34:0,0,17,17 1 236645670 146899444 C T 922 PASS VARTYPE=1;BGN=0.00115949;ARL=211;DER=82;DEA=86;QR=36;QA=37;PBP=487;PBM=443;TYPE=SNP;DBXREF=dbSNP:rs604070,g1000:0.1332,esp5400:0.1901,ExAC:0.2020,clinvar:rs604070,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:49375,GnomAD_AN_exome:246224,GnomAD_AC_genome:5912,GnomAD_AN_genome:30904,GnomAD:0.1995;SGVEP=EDARADD|+|NM_080738|6|c.339C>T|p.(Asp113:)|synonymous GT:DP:AD:DP4 0/1:87:47,40:25,22,21,19 1 236881403 146927823 C T 118 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=282;DER=35;DEA=29;QR=37;QA=37;PBP=49;PBM=73;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2275399,g1000:0.3584,GnomAD_AC_genome:14596,GnomAD_AN_genome:30890,GnomAD:0.4725;SGVEP=ACTN2|+|NM_001103|2|c.241+131C>T|.|intronic GT:DP:AD:DP4 0/1:12:7,5:3,4,2,3 1 236882110 146927898 G A 557 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=279;DEA=57;QA=37;PBP=352;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs1341865,g1000:0.9926,GnomAD_AC_genome:30772,GnomAD_AN_genome:30978,GnomAD:0.9934;SGVEP=ACTN2|+|NM_001103|3|c.242-84G>A|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,12,7 1 236882303 117202 T C 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=224;DEA=87;QA=37;PBP=1755;PBM=1871;TYPE=SNP;DBXREF=dbSNP:rs1341864,g1000:0.9926,esp5400:0.9914,ExAC:0.9980,clinvar:rs1341864,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:245840,GnomAD_AN_exome:246222,GnomAD_AC_genome:30760,GnomAD_AN_genome:30966,GnomAD:0.9979;SGVEP=ACTN2|+|NM_001103|3|c.351T>C|p.(Ile117:)|synonymous GT:DP:AD:DP4 1/1:124:0,124:0,0,60,64 1 236883421 117209 C T 645 PASS VARTYPE=1;BGN=0.00115949;ARL=232;DEA=78;QA=37;PBP=323;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs1341863,g1000:0.9207,esp5400:0.9354,ExAC:0.9620,clinvar:rs1341863,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:236746,GnomAD_AN_exome:246136,GnomAD_AC_genome:29025,GnomAD_AN_genome:30968,GnomAD:0.9591;SGVEP=ACTN2|+|NM_001103|4|c.378C>T|p.(Asn126:)|synonymous GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 1 236883564 146928140 G A 293 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=242;DEA=26;QA=37;PBP=117;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs1341862,g1000:0.9223,GnomAD_AC_genome:29085,GnomAD_AN_genome:30970,GnomAD:0.9391;SGVEP=ACTN2|+|NM_001103|4|c.448+73G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,4,6 1 236894647 146929440 G A 445 off_target VARTYPE=1;BGN=0.00115949;ARL=224;DER=60;DEA=68;QR=35;QA=37;PBP=227;PBM=223;TYPE=SNP;DBXREF=dbSNP:rs819640,g1000:0.4916,esp5400:0.3995,ExAC:0.3880,GnomAD_AC_exome:93723,GnomAD_AN_exome:245822,GnomAD_AC_genome:11941,GnomAD_AN_genome:30896,GnomAD:0.3818;SGVEP=ACTN2|+|NM_001103|7|c.697+33G>A|.|intronic GT:DP:AD:DP4 0/1:31:13,18:6,7,9,9 1 236894681 . T C 294 off_target VARTYPE=1;BGN=0.00115949;ARL=229;DER=44;DEA=30;QR=37;QA=37;PBP=149;PBM=149;TYPE=SNP;SGVEP=ACTN2|+|NM_001103|7|c.697+67T>C|.|intronic GT:DP:AD:DP4 0/1:22:10,12:5,5,6,6 1 236897633 146929788 A G 285 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=233;DEA=25;QA=36;PBP=143;PBM=143;TYPE=SNP;DBXREF=dbSNP:rs707203,g1000:1.0000,GnomAD_AC_genome:30961,GnomAD_AN_genome:30964,GnomAD:0.9999;SGVEP=ACTN2|+|NM_001103|8|c.698-1302A>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 236899899 146930162 TCCCCC TCCCC 331 PASS VARTYPE=1;BGN=0.0262051;ARL=215;DER=97;DEA=93;QR=36;QA=35;HL=5;PBP=182;PBM=157;TYPE=INDEL;DBXREF=dbSNP:rs397983372,g1000:0.5282,ExAC:0.5810,GnomAD_AC_exome:84916,GnomAD_AN_exome:129526,GnomAD_AC_genome:19826,GnomAD_AN_genome:30870,GnomAD:0.6530;SGVEP=ACTN2|+|NM_001278344|10|c.95del|p.(Pro32Leufs*12)|frameshift GT:DP:AD:DP4 0/1:74:40,34:20,20,18,16 1 236900018 146930178 G A 369 off_target VARTYPE=1;BGN=0.0013919;ARL=243;DER=55;DEA=52;QR=37;QA=36;PBP=162;PBM=213;TYPE=SNP;DBXREF=dbSNP:rs7542508,g1000:0.3594,ExAC:0.3850,GnomAD_AC_exome:58208,GnomAD_AN_exome:119992,GnomAD_AC_genome:14241,GnomAD_AN_genome:30838,GnomAD:0.4803;SGVEP=ACTN2|+|NM_001103|9|c.784-404G>A|.|intronic GT:DP:AD:DP4 0/1:32:16,16:8,8,7,9 1 236900329 146930212 C T 255 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=252;DER=57;DEA=41;QR=37;QA=38;PBP=130;PBM=130;TYPE=SNP;DBXREF=dbSNP:rs565673135,g1000:0.0002,GnomAD_AC_genome:2,GnomAD_AN_genome:30894,GnomAD:0.0001;SGVEP=ACTN2|+|NM_001103|9|c.784-93C>T|.|intronic GT:DP:AD:DP4 0/1:18:8,10:4,4,5,5 1 236902560 146930604 C T 491 off_target VARTYPE=1;BGN=0.0013919;ARL=235;DER=47;DEA=28;QR=34;QA=36;PBP=233;PBM=265;TYPE=SNP;DBXREF=dbSNP:rs7527525,g1000:0.3724,esp5400:0.4776,ExAC:0.5120,GnomAD_AC_exome:127698,GnomAD_AN_exome:244888,GnomAD_AC_genome:14609,GnomAD_AN_genome:30662,GnomAD:0.5164;SGVEP=ACTN2|+|NM_001103|10|c.877-42C>T|.|intronic GT:DP:AD:DP4 0/1:39:18,21:10,8,10,11 1 236902594 117310 C G 2569 off_target VARTYPE=1;BGN=0.00115949;ARL=227;DEA=44;QA=37;PBP=1288;PBM=1288;TYPE=SNP;DBXREF=dbSNP:rs2288601,g1000:0.7676,esp5400:0.7754,ExAC:0.7750,clinvar:rs2288601,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:190803,GnomAD_AN_exome:246054,GnomAD_AC_genome:24120,GnomAD_AN_genome:30744,GnomAD:0.7765;SGVEP=ACTN2|+|NM_001103|10|c.877-8C>G|.|intronic GT:DP:AD:DP4 1/1:88:0,88:0,0,44,44 1 236902865 146930741 A C 831 off_target VARTYPE=1;BGN=0.00115949;ARL=236;DER=72;DEA=57;QR=37;QA=37;PBP=397;PBM=443;TYPE=SNP;DBXREF=dbSNP:rs2288602,g1000:0.4227,esp5400:0.4976,ExAC:0.5670,GnomAD_AC_exome:135354,GnomAD_AN_exome:232514,GnomAD_AC_genome:16228,GnomAD_AN_genome:30894,GnomAD:0.5755;SGVEP=ACTN2|+|NM_001103|10|c.1107+33A>C|.|intronic GT:DP:AD:DP4 0/1:78:42,36:20,22,17,19 1 236902955 146930760 T C 158 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=283;DER=67;DEA=36;QR=36;QA=37;PBP=22;PBM=144;SP=5;TYPE=SNP;DBXREF=dbSNP:rs7544174,g1000:0.4207,GnomAD_AC_genome:16222,GnomAD_AN_genome:30904,GnomAD:0.5249;SGVEP=ACTN2|+|NM_001103|10|c.1107+123T>C|.|intronic GT:DP:AD:DP4 0/1:19:12,7:5,7,1,6 1 236910863 146931877 T C 194 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=241;DER=42;DEA=18;QR=37;QA=37;PBP=99;PBM=99;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10802557,g1000:0.3279,GnomAD_AC_genome:8691,GnomAD_AN_genome:30908,GnomAD:0.2812;SGVEP=ACTN2|+|NM_001103|13|c.1407-104T>C|.|intronic GT:DP:AD:DP4 0/1:16:8,8:4,4,4,4 1 236924506 146934144 A G 1988 off_target VARTYPE=1;BGN=0.00115949;ARL=239;DEA=56;QA=37;PBP=996;PBM=996;TYPE=SNP;DBXREF=dbSNP:rs2282366,g1000:0.7981,esp5400:0.8610,ExAC:0.8490,GnomAD_AC_exome:208678,GnomAD_AN_exome:244498,GnomAD_AC_genome:26536,GnomAD_AN_genome:30960,GnomAD:0.8539;SGVEP=ACTN2|+|NM_001103|20|c.2526+33A>G|.|intronic GT:DP:AD:DP4 1/1:68:0,68:0,0,34,34 1 236926030 146934455 A G 285 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=270;DEA=32;QA=36;PBP=143;PBM=143;TYPE=SNP;DBXREF=dbSNP:rs1051251,g1000:0.3498,clinvar:rs1051251,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:15422,GnomAD_AN_genome:30418,GnomAD:0.5070;SGVEP=ACTN2|+|NM_001103|21|c.*111A>G|.|3'UTR GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 236978992 146939521 T TTCTG 1219 off_target VARTYPE=1;BGN=0.000965875;ARL=208;DER=6;DEA=61;QR=37;QA=151;PBP=584;PBM=642;TYPE=INDEL;DBXREF=dbSNP:rs5781924,g1000:0.7696,ExAC:0.6830,GnomAD_AC_exome:165959,GnomAD_AN_exome:245136,GnomAD_AC_genome:22375,GnomAD_AN_genome:30748,GnomAD:0.6827;SGVEP=MTR|+|NM_000254|7|c.669+32_669+33insGTCT|.|intronic GT:DP:AD:DP4 1/1:54:7,44:3,4,21,23 1 237001926 146942125 A G 609 off_target VARTYPE=1;BGN=0.00115949;ARL=244;DER=87;DEA=68;QR=37;QA=37;PBP=308;PBM=308;TYPE=SNP;DBXREF=dbSNP:rs3820568,g1000:0.3277,esp5400:0.3539,ExAC:0.3860,GnomAD_AC_exome:96306,GnomAD_AN_exome:244596,GnomAD_AC_genome:11315,GnomAD_AN_genome:30896,GnomAD:0.3907;SGVEP=MTR|+|NM_000254|15|c.1515+27A>G|.|intronic GT:DP:AD:DP4 0/1:54:28,26:14,14,13,13 1 237002032 146942160 A C 135 low_coverage;off_target VARTYPE=1;BGN=0.00200585;ARL=269;DER=27;DEA=15;QR=37;QA=34;PBP=71;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs55748381,g1000:0.3277,GnomAD_AC_genome:11316,GnomAD_AN_genome:30896,GnomAD:0.3663;SGVEP=MTR|+|NM_000254|15|c.1515+133A>C|.|intronic GT:DP:AD:DP4 0/1:11:5,6:2,3,3,3 1 237023333 146944517 T C 400 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=230;DEA=26;QA=36;PBP=200;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs10925254,g1000:0.6418,GnomAD_AC_genome:18643,GnomAD_AN_genome:28474,GnomAD:0.6547;SGVEP=MTR|+|NM_000254|19|c.2043+111T>C|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 1 237038008 146946432 T A 204 off_target VARTYPE=1;BGN=0.0013919;ARL=210;DER=58;DEA=35;QR=36;QA=36;PBP=108;PBM=110;TYPE=SNP;DBXREF=dbSNP:rs10925256,g1000:0.3820,esp5400:0.0013,ExAC:0.2890,clinvar:rs10925256,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:55947,GnomAD_AN_exome:131974,GnomAD_AC_genome:11463,GnomAD_AN_genome:26442,GnomAD:0.4255;SGVEP=MTR|+|NM_000254|24|c.2474-18T>A|.|intronic GT:DP:AD:DP4 0/1:34:19,10:10,9,5,5 1 237048500 117724 A G 127 PASS VARTYPE=1;BGN=0.00115949;ARL=226;DER=82;DEA=75;QR=37;QA=37;PBP=66;PBM=66;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1805087,g1000:0.2183,esp5400:0.2172,ExAC:0.2090,PhyloP:2.2910,SIFT:0.8110,PolyPhen2:0.2100,PolyPhen2_HumDiv:0.5860,LRT:1.0000,MutationTaster:1.0000,GERP:5.9900,clinvar:rs1805087,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:49997,GnomAD_AN_exome:245944,GnomAD_AC_genome:6536,GnomAD_AN_genome:30926,GnomAD:0.2042;SGVEP=MTR|+|NM_000254|26|c.2756A>G|p.(Asp919Gly)|missense GT:DP:AD:DP4 0/1:22:16,6:8,8,3,3 1 237048562 146947641 G A 352 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=235;DEA=51;QA=37;PBP=176;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs2275566,g1000:0.7618,esp5400:0.7241,ExAC:0.6760,GnomAD_AC_exome:160760,GnomAD_AN_exome:238842,GnomAD_AC_genome:22393,GnomAD_AN_genome:30916,GnomAD:0.6790;SGVEP=MTR|+|NM_000254|26|c.2775+43G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 1 237054569 117734 A G 934 PASS VARTYPE=1;BGN=0.00115949;ARL=207;DER=95;DEA=91;QR=37;QA=37;PBP=482;PBM=461;TYPE=SNP;DBXREF=dbSNP:rs2229276,g1000:0.3233,esp5400:0.3430,ExAC:0.3830,clinvar:rs2229276,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:96144,GnomAD_AN_exome:246228,GnomAD_AC_genome:11084,GnomAD_AN_genome:30874,GnomAD:0.3870;SGVEP=MTR|+|NM_000254|29|c.3144A>G|p.(Ala1048:)|synonymous GT:DP:AD:DP4 0/1:93:52,41:27,25,21,20 1 237057608 146948842 G A 1142 off_target VARTYPE=1;BGN=0.00115949;ARL=218;DEA=37;QA=37;PBP=586;PBM=557;TYPE=SNP;DBXREF=dbSNP:rs2297965,g1000:0.5375,esp5400:0.5594,ExAC:0.5880,GnomAD_AC_exome:143151,GnomAD_AN_exome:241978,GnomAD_AC_genome:17550,GnomAD_AN_genome:30806,GnomAD:0.5891;SGVEP=MTR|+|NM_000254|30|c.3205-49G>A|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,20,19 1 237058744 117745 C A 1457 PASS VARTYPE=1;BGN=0.00115949;ARL=229;DER=113;DEA=98;QR=37;QA=37;PBP=700;PBM=770;TYPE=SNP;DBXREF=dbSNP:rs12070777,g1000:0.3215,esp5400:0.3442,ExAC:0.3630,clinvar:rs12070777,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:85781,GnomAD_AN_exome:221354,GnomAD_AC_genome:11107,GnomAD_AN_genome:30842,GnomAD:0.3842;SGVEP=MTR|+|NM_000254|31|c.3492C>A|p.(Arg1164:)|synonymous GT:DP:AD:DP4 0/1:154:89,65:43,46,31,34 1 237058828 117752 C T 10000 PASS VARTYPE=1;BGN=0.00115949;ARL=232;DER=101;DEA=79;QR=9;QA=37;PBP=1667;PBM=1813;TYPE=SNP;DBXREF=dbSNP:rs1131449,g1000:0.5292,esp5400:0.5447,ExAC:0.5360,clinvar:rs1131449,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:110500,GnomAD_AN_exome:191340,GnomAD_AC_genome:17195,GnomAD_AN_genome:30840,GnomAD:0.5747;SGVEP=MTR|+|NM_000254|31|c.3576C>T|p.(Leu1192:)|synonymous GT:DP:AD:DP4 1/1:119:0,119:0,0,57,62 1 237060433 117756 G T 2917 off_target VARTYPE=1;BGN=0.00115949;ARL=211;DEA=48;QA=37;PBP=1434;PBM=1492;TYPE=SNP;DBXREF=dbSNP:rs3820571,g1000:0.7524,esp5400:0.7143,ExAC:0.6750,clinvar:rs3820571,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:164668,GnomAD_AN_exome:246062,GnomAD_AC_genome:22188,GnomAD_AN_genome:30910,GnomAD:0.6746;SGVEP=MTR|+|NM_000254|32|c.3711+15G>T|.|intronic GT:DP:AD:DP4 1/1:100:0,100:0,0,49,51 1 237551376 117866 T A 2133 off_target VARTYPE=1;BGN=0.00115949;ARL=223;DEA=70;QA=37;PBP=1084;PBM=1054;TYPE=SNP;DBXREF=dbSNP:rs10754602,g1000:0.5565,esp5400:0.5273,ExAC:0.5650,clinvar:rs10754602,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:140401,GnomAD_AN_exome:244138,GnomAD_AC_genome:16456,GnomAD_AN_genome:30906,GnomAD:0.5703;SGVEP=RYR2|+|NM_001035|10|c.677-11T>A|.|intronic GT:DP:AD:DP4 1/1:73:0,73:0,0,37,36 1 237670140 147017582 A G 459 off_target VARTYPE=1;BGN=0.00115949;ARL=242;DER=76;DEA=48;QR=38;QA=37;PBP=233;PBM=233;TYPE=SNP;DBXREF=dbSNP:rs2618702,g1000:0.6995,esp5400:0.7098,ExAC:0.6630,clinvar:rs2618702,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:158028,GnomAD_AN_exome:236926,GnomAD_AC_genome:22352,GnomAD_AN_genome:30924,GnomAD:0.6734;SGVEP=RYR2|+|NM_001035|23|c.2718+26A>G|.|intronic GT:DP:AD:DP4 0/1:46:26,20:13,13,10,10 1 237675163 147017908 G A 123 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=161;DER=44;DEA=32;QR=38;QA=37;TYPE=SNP;DBXREF=dbSNP:rs67622164,g1000:0.2953,GnomAD_AC_genome:9243,GnomAD_AN_genome:27974,GnomAD:0.3304;SGVEP=RYR2|+|NM_001035|24|c.2822+72G>A|.|intronic GT:DP:AD:DP4 0/1:10:5,5:0,5,0,5 1 237711644 147020691 T C 257 low_coverage;off_target VARTYPE=1;BGN=0.0013919;ARL=266;DEA=42;QA=36;PBP=143;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs2618661,g1000:0.8303,GnomAD_AC_genome:26430,GnomAD_AN_genome:30940,GnomAD:0.8542;SGVEP=RYR2|+|NM_001035|26|c.2907-87T>C|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,5,4 1 237711797 118228 A G 1929 PASS VARTYPE=1;BGN=0.00115949;ARL=226;DEA=104;QA=37;PBP=967;PBM=967;TYPE=SNP;DBXREF=dbSNP:rs2253273,g1000:0.8303,esp5400:0.8517,ExAC:0.9260,clinvar:rs2253273,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:229513,GnomAD_AN_exome:246034,GnomAD_AC_genome:26420,GnomAD_AN_genome:30936,GnomAD:0.9240;SGVEP=RYR2|+|NM_001035|26|c.2973A>G|p.(Ser991:)|synonymous GT:DP:AD:DP4 1/1:66:0,66:0,0,33,33 1 237714103 147020994 G A 146 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=280;DER=56;DEA=22;QR=36;QA=38;PBP=75;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2306238,g1000:0.2019,GnomAD_AC_genome:5473,GnomAD_AN_genome:30944,GnomAD:0.1769;SGVEP=RYR2|+|NM_001035|27|c.3214+112G>A|.|intronic GT:DP:AD:DP4 0/1:14:8,6:4,4,3,3 1 237729774 147022496 G A 722 off_target VARTYPE=1;BGN=0.000965875;ARL=270;DEA=58;QA=38;PBP=361;PBM=361;TYPE=SNP;DBXREF=dbSNP:rs2248295,g1000:0.7955,GnomAD_AC_genome:25304,GnomAD_AN_genome:30928,GnomAD:0.8182;SGVEP=RYR2|+|NM_001035|28|c.3215-93G>A|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 1 237730124 147022587 A G 2424 off_target VARTYPE=1;BGN=0.00115949;ARL=225;DEA=55;QA=37;PBP=1142;PBM=1288;TYPE=SNP;DBXREF=dbSNP:rs2805390,g1000:0.9056,esp5400:0.9052,ExAC:0.9570,clinvar:rs2805390,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:234746,GnomAD_AN_exome:244028,GnomAD_AC_genome:28199,GnomAD_AN_genome:30954,GnomAD:0.9562;SGVEP=RYR2|+|NM_001035|28|c.3423+49A>G|.|intronic GT:DP:AD:DP4 1/1:83:0,83:0,0,39,44 1 237730169 147022590 C T 1083 off_target VARTYPE=1;BGN=0.0013919;ARL=253;DEA=40;QA=36;PBP=514;PBM=571;TYPE=SNP;DBXREF=dbSNP:rs2779401,g1000:0.9193,GnomAD_AC_genome:28953,GnomAD_AN_genome:30974,GnomAD:0.9348;SGVEP=RYR2|+|NM_001035|28|c.3423+94C>T|.|intronic GT:DP:AD:DP4 1/1:38:0,38:0,0,18,20 1 237732332 147022764 C T 301 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=251;DEA=19;QA=38;PBP=151;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs2618717,g1000:0.5012,GnomAD_AC_genome:17636,GnomAD_AN_genome:30890,GnomAD:0.5709;SGVEP=RYR2|+|NM_001035|29|c.3424-113C>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 1 237732395 147022769 G A 1580 off_target VARTYPE=1;BGN=0.00115949;ARL=239;DEA=37;QA=37;PBP=879;PBM=703;TYPE=SNP;DBXREF=dbSNP:rs2805396,g1000:0.4928,esp5400:0.5888,ExAC:0.6360,clinvar:rs2805396,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:137655,GnomAD_AN_exome:212448,GnomAD_AC_genome:17529,GnomAD_AN_genome:30868,GnomAD:0.6378;SGVEP=RYR2|+|NM_001035|29|c.3424-50G>A|.|intronic GT:DP:AD:DP4 1/1:54:0,54:0,0,30,24 1 237753074 118321 ATTTTTTTTTT ATTTTTTTTT 264 homopolymer_region;off_target VARTYPE=1;BGN=0.265679;ARL=219;DEA=57;QA=38;HL=10;PBP=142;PBM=125;TYPE=INDEL;DBXREF=dbSNP:rs11331089,g1000:0.2851,ExAC:0.4030,clinvar:rs11331089,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:99507,GnomAD_AN_exome:218498,GnomAD_AC_genome:10805,GnomAD_AN_genome:30552,GnomAD:0.4429;SGVEP=RYR2|+|NM_001035|30|c.3599-9del|.|intronic GT:DP:AD:DP4 1/1:47:0,47:0,0,25,22 1 237753364 147024662 A C 1113 off_target VARTYPE=1;BGN=0.00115949;ARL=235;DEA=41;QA=37;PBP=528;PBM=586;TYPE=SNP;DBXREF=dbSNP:rs2805409,g1000:0.3369,GnomAD_AC_genome:12353,GnomAD_AN_genome:30940,GnomAD:0.3993;SGVEP=RYR2|+|NM_001035|30|c.3807+63A>C|.|intronic GT:DP:AD:DP4 1/1:38:0,38:0,0,18,20 1 237753390 147024667 A G 656 off_target VARTYPE=1;BGN=0.0013919;ARL=234;DEA=33;QA=36;PBP=314;PBM=343;TYPE=SNP;DBXREF=dbSNP:rs2805410,g1000:0.3371,GnomAD_AC_genome:12341,GnomAD_AN_genome:30916,GnomAD:0.3992;SGVEP=RYR2|+|NM_001035|30|c.3807+89A>G|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,11,12 1 237754340 147024847 A G 791 off_target VARTYPE=1;BGN=0.00115949;ARL=215;DEA=40;QA=37;PBP=381;PBM=411;TYPE=SNP;DBXREF=dbSNP:rs1332777,g1000:0.3375,esp5400:0.3776,ExAC:0.4150,clinvar:rs1332777,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:79906,GnomAD_AN_exome:176278,GnomAD_AC_genome:11968,GnomAD_AN_genome:30236,GnomAD:0.4449;SGVEP=RYR2|+|NM_001035|31|c.4160+48A>G|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,13,14 1 237755188 147024969 C T 2133 off_target VARTYPE=1;BGN=0.00115949;ARL=220;DEA=60;QA=37;PBP=1054;PBM=1084;TYPE=SNP;DBXREF=dbSNP:rs2618713,g1000:0.3359,esp5400:0.3830,ExAC:0.4110,clinvar:rs2618713,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:91102,GnomAD_AN_exome:200466,GnomAD_AC_genome:12295,GnomAD_AN_genome:30898,GnomAD:0.4469;SGVEP=RYR2|+|NM_001035|32|c.4275+35C>T|.|intronic GT:DP:AD:DP4 1/1:73:0,73:0,0,36,37 1 237755203 147024974 T C 1667 off_target VARTYPE=1;BGN=0.00115949;ARL=226;DEA=58;QA=37;PBP=820;PBM=850;TYPE=SNP;DBXREF=dbSNP:rs2779430,g1000:0.3375,esp5400:0.3920,ExAC:0.4080,clinvar:rs2779430,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:81270,GnomAD_AN_exome:178642,GnomAD_AC_genome:12359,GnomAD_AN_genome:30908,GnomAD:0.4468;SGVEP=RYR2|+|NM_001035|32|c.4275+50T>C|.|intronic GT:DP:AD:DP4 1/1:57:0,57:0,0,28,29 1 237765470 147026062 A T 557 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=240;DEA=61;QA=37;PBP=235;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs791541,g1000:0.2931,esp5400:0.3815,GnomAD_AC_genome:11304,GnomAD_AN_genome:30866,GnomAD:0.3662;SGVEP=RYR2|+|NM_001035|35|c.4683+59A>T|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,8,11 1 237796837 147029796 G A 486 off_target VARTYPE=1;BGN=0.00200585;ARL=237;DER=40;DEA=53;QR=37;QA=34;PBP=219;PBM=271;TYPE=SNP;DBXREF=dbSNP:rs10802626,g1000:0.4285,esp5400:0.3848,ExAC:0.3630,clinvar:rs10802626,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:88672,GnomAD_AN_exome:245400,GnomAD_AC_genome:12386,GnomAD_AN_genome:30882,GnomAD:0.3658;SGVEP=RYR2|+|NM_001035|43|c.6556-41G>A|.|intronic GT:DP:AD:DP4 1/1:26:6,20:3,3,9,11 1 237797082 147029845 T G 371 off_target VARTYPE=1;BGN=0.0013919;ARL=251;DER=53;DEA=36;QR=37;QA=36;PBP=175;PBM=201;TYPE=SNP;DBXREF=dbSNP:rs1967579,g1000:0.4407,GnomAD_AC_genome:12761,GnomAD_AN_genome:30924,GnomAD:0.4127;SGVEP=RYR2|+|NM_001035|43|c.6688+72T>G|.|intronic GT:DP:AD:DP4 0/1:23:8,15:4,4,7,8 1 237797103 147029853 C A 227 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=252;DER=45;DEA=32;QR=35;QA=37;PBP=102;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs1967580,g1000:0.2744,GnomAD_AC_genome:7831,GnomAD_AN_genome:30912,GnomAD:0.2533;SGVEP=RYR2|+|NM_001035|43|c.6688+93C>A|.|intronic GT:DP:AD:DP4 0/1:15:6,9:3,3,4,5 1 237801770 118737 T C 1950 PASS VARTYPE=1;BGN=0.000965875;ARL=206;DEA=67;QA=38;PBP=992;PBM=962;TYPE=SNP;DBXREF=dbSNP:rs707189,g1000:0.9549,esp5400:0.9594,ExAC:0.9880,clinvar:rs707189,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:243896,GnomAD_AN_exome:246200,GnomAD_AC_genome:29870,GnomAD_AN_genome:30982,GnomAD:0.9877;SGVEP=RYR2|+|NM_001035|45|c.6906T>C|p.(Leu2302:)|synonymous GT:DP:AD:DP4 1/1:65:0,65:0,0,33,32 1 237802559 147030426 T C 1492 off_target VARTYPE=1;BGN=0.00115949;ARL=222;DEA=33;QA=37;PBP=733;PBM=762;TYPE=SNP;DBXREF=dbSNP:rs530109,g1000:0.9982,GnomAD_AC_genome:30965,GnomAD_AN_genome:30988,GnomAD:0.9993;SGVEP=RYR2|+|NM_001035|46|c.7115+58T>C|.|intronic GT:DP:AD:DP4 1/1:51:0,51:0,0,25,26 1 237806819 147030899 G A 496 off_target VARTYPE=1;BGN=0.0013919;ARL=229;DER=28;DEA=39;QR=37;QA=36;PBP=250;PBM=253;TYPE=SNP;DBXREF=dbSNP:rs11583646,g1000:0.1436,GnomAD_AC_genome:3922,GnomAD_AN_genome:30844,GnomAD:0.1272;SGVEP=RYR2|+|NM_001035|48|c.7342+72G>A|.|intronic GT:DP:AD:DP4 0/1:47:25,22:13,12,11,11 1 237813126 147031446 A G 454 off_target VARTYPE=1;BGN=0.0013919;ARL=230;DER=48;DEA=32;QR=37;QA=36;PBP=256;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs625006,g1000:0.5731,esp5400:0.4259,GnomAD_AC_genome:15424,GnomAD_AN_genome:30896,GnomAD:0.4992;SGVEP=RYR2|+|NM_001035|50|c.7513-51A>G|.|intronic GT:DP:AD:DP4 0/1:42:22,20:11,11,11,9 1 237814783 118860 C T 406 PASS VARTYPE=1;BGN=0.00115949;ARL=201;DER=76;DEA=80;QR=38;QA=37;PBP=207;PBM=207;TYPE=SNP;DBXREF=dbSNP:rs684923,g1000:0.5549,esp5400:0.4510,ExAC:0.4350,clinvar:rs684923,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:93149,GnomAD_AN_exome:195914,GnomAD_AC_genome:15081,GnomAD_AN_genome:30900,GnomAD:0.4772;SGVEP=RYR2|+|NM_001035|51|c.7806C>T|p.(His2602:)|synonymous GT:DP:AD:DP4 0/1:76:56,20:28,28,10,10 1 237863439 147035845 G A 158 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=241;DER=20;DEA=17;QR=37;QA=37;PBP=94;PBM=69;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12754190,g1000:0.4615,GnomAD_AC_genome:16556,GnomAD_AN_genome:30898,GnomAD:0.5358;SGVEP=RYR2|+|NM_001035|65|c.9129-90G>A|.|intronic GT:DP:AD:DP4 0/1:19:12,7:6,6,4,3 1 237863718 118976 T G 1900 PASS VARTYPE=1;BGN=0.00115949;ARL=219;DEA=74;QA=37;PBP=1113;PBM=791;TYPE=SNP;DBXREF=dbSNP:rs2797436,g1000:0.9692,esp5400:0.9714,ExAC:0.9910,clinvar:rs2797436,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:239704,GnomAD_AN_exome:241432,GnomAD_AC_genome:30012,GnomAD_AN_genome:30894,GnomAD:0.9904;SGVEP=RYR2|+|NM_001035|65|c.9318T>G|p.(Ser3106:)|synonymous GT:DP:AD:DP4 1/1:65:0,65:0,0,38,27 1 237865203 147036042 C T 323 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=256;DEA=43;QA=37;PBP=176;PBM=147;TYPE=SNP;DBXREF=dbSNP:rs939699,g1000:0.9692,GnomAD_AC_genome:30081,GnomAD_AN_genome:30966,GnomAD:0.9714;SGVEP=RYR2|+|NM_001035|66|c.9368-75C>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 1 237890437 119148 C T 1755 PASS VARTYPE=1;BGN=0.00115949;ARL=223;DEA=102;QA=37;PBP=879;PBM=879;TYPE=SNP;DBXREF=dbSNP:rs2685301,g1000:0.9603,esp5400:0.9595,ExAC:0.9890,clinvar:rs2685301,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:242472,GnomAD_AN_exome:244760,GnomAD_AC_genome:29773,GnomAD_AN_genome:30932,GnomAD:0.9875;SGVEP=RYR2|+|NM_001035|76|c.10776C>T|p.(Ser3592:)|synonymous GT:DP:AD:DP4 1/1:60:0,60:0,0,30,30 1 237893674 119153 C T 804 off_target VARTYPE=1;BGN=0.00167091;ARL=240;DEA=74;QA=35;PBP=389;PBM=416;TYPE=SNP;DBXREF=dbSNP:rs2797445,g1000:0.9852,esp5400:0.9856,ExAC:0.9950,clinvar:rs2797445,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:242075,GnomAD_AN_exome:242996,GnomAD_AC_genome:30497,GnomAD_AN_genome:30952,GnomAD:0.9950;SGVEP=RYR2|+|NM_001035|77|c.10935+18C>T|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,14,15 1 237923053 147040684 C T 1084 off_target VARTYPE=1;BGN=0.00115949;ARL=218;DEA=64;QA=37;PBP=557;PBM=528;TYPE=SNP;DBXREF=dbSNP:rs2253831,g1000:0.7616,esp5400:0.7243,ExAC:0.7110,clinvar:rs2253831,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:174982,GnomAD_AN_exome:245272,GnomAD_AC_genome:22547,GnomAD_AN_genome:30902,GnomAD:0.7152;SGVEP=RYR2|+|NM_001035|83|c.11326-23C>T|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,19,18 1 237944814 147042235 C T 133 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=230;DER=36;DEA=73;QR=37;QA=37;PBP=44;PBM=94;SP=2;TYPE=SNP;DBXREF=dbSNP:rs12135982,g1000:0.1210,esp5400:0.1296,GnomAD_AC_genome:3671,GnomAD_AN_genome:30944,GnomAD:0.1186;SGVEP=RYR2|+|NM_001035|89|c.11881-51C>T|.|intronic GT:DP:AD:DP4 0/1:18:12,6:6,6,2,4 1 237946964 119283 T C 354 off_target VARTYPE=1;BGN=0.000965875;ARL=206;DER=56;DEA=64;QR=37;QA=38;PBP=166;PBM=195;TYPE=SNP;DBXREF=dbSNP:rs790889,g1000:0.4147,esp5400:0.3279,ExAC:0.3630,clinvar:rs790889,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:82313,GnomAD_AN_exome:215380,GnomAD_AC_genome:10997,GnomAD_AN_genome:30934,GnomAD:0.3788;SGVEP=RYR2|+|NM_001035|90|c.11963-11T>C|.|intronic GT:DP:AD:DP4 0/1:36:21,15:11,10,7,8 1 237949456 147042922 T C 947 off_target VARTYPE=1;BGN=0.00115949;ARL=236;DER=33;DEA=59;QR=37;QA=37;PBP=455;PBM=501;TYPE=SNP;DBXREF=dbSNP:rs2275690,g1000:0.0407,GnomAD_AC_genome:1506,GnomAD_AN_genome:30958,GnomAD:0.0486;SGVEP=RYR2|+|NM_001035|91|c.13328+120T>C|.|intronic GT:DP:AD:DP4 0/1:78:38,40:18,20,19,21 1 237951451 119490 A G 1087 off_target VARTYPE=1;BGN=0.00115949;ARL=227;DER=63;DEA=77;QR=37;QA=37;PBP=548;PBM=548;TYPE=SNP;DBXREF=dbSNP:rs2256242,g1000:0.6366,esp5400:0.6185,ExAC:0.5570,clinvar:rs2256242,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:130766,GnomAD_AN_exome:234866,GnomAD_AC_genome:18826,GnomAD_AN_genome:30914,GnomAD:0.5628;SGVEP=RYR2|+|NM_001035|92|c.13476+16A>G|.|intronic GT:DP:AD:DP4 0/1:90:44,46:22,22,23,23 1 237951482 147043134 G A 566 off_target VARTYPE=1;BGN=0.00115949;ARL=241;DER=56;DEA=55;QR=35;QA=37;PBP=275;PBM=298;TYPE=SNP;DBXREF=dbSNP:rs16835818,g1000:0.2979,esp5400:0.3524,ExAC:0.2530,clinvar:rs16835818,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:49063,GnomAD_AN_exome:183606,GnomAD_AC_genome:10368,GnomAD_AN_genome:30922,GnomAD:0.2770;SGVEP=RYR2|+|NM_001035|92|c.13476+47G>A|.|intronic GT:DP:AD:DP4 0/1:60:35,25:17,18,12,13 1 237955680 147043566 T C 147 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=201;DER=72;DEA=70;QR=24;QA=35;PBP=77;PBM=73;SP=0;TYPE=SNP;DBXREF=dbSNP:rs146659498,g1000:0.5282,GnomAD_AC_genome:9132,GnomAD_AN_genome:27236,GnomAD:0.3353;SGVEP=RYR2|+|NM_001035|94|c.13782+57T>C|.|intronic GT:DP:AD:DP4 0/1:9:3,6:1,2,3,3 1 237957146 147043681 G A 908 off_target VARTYPE=1;BGN=0.00115949;ARL=224;DEA=53;QA=37;PBP=469;PBM=440;TYPE=SNP;DBXREF=dbSNP:rs790902,g1000:0.7340,esp5400:0.6265,ExAC:0.7020,clinvar:rs790902,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:162557,GnomAD_AN_exome:228566,GnomAD_AC_genome:20306,GnomAD_AN_genome:30892,GnomAD:0.7048;SGVEP=RYR2|+|NM_001035|95|c.13783-21G>A|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,16,15 1 237957161 119543 A G 1084 off_target VARTYPE=1;BGN=0.00115949;ARL=221;DEA=62;QA=37;PBP=557;PBM=528;TYPE=SNP;DBXREF=dbSNP:rs790901,g1000:0.7576,esp5400:0.6525,ExAC:0.7300,clinvar:rs790901,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:178189,GnomAD_AN_exome:241590,GnomAD_AC_genome:21110,GnomAD_AN_genome:30910,GnomAD:0.7314;SGVEP=RYR2|+|NM_001035|95|c.13783-6A>G|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,19,18 1 237957309 119553 A C 855 off_target VARTYPE=1;BGN=0.0013919;ARL=221;DEA=54;QA=36;PBP=428;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs790900,g1000:0.7508,esp5400:0.6494,ExAC:0.7240,clinvar:rs790900,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:177001,GnomAD_AN_exome:241824,GnomAD_AC_genome:21034,GnomAD_AN_genome:30918,GnomAD:0.7261;SGVEP=RYR2|+|NM_001035|95|c.13913+12A>C|.|intronic GT:DP:AD:DP4 1/1:30:0,30:0,0,15,15 1 237965035 147044394 C A 158 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=253;DER=10;DEA=39;QR=35;QA=38;PBP=105;PBM=56;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2790346,g1000:0.4631,GnomAD_AC_genome:13003,GnomAD_AN_genome:30740,GnomAD:0.4230;SGVEP=RYR2|+|NM_001035|98|c.14091-121C>A|.|intronic GT:DP:AD:DP4 0/1:10:4,6:3,1,4,2 1 237965043 147044395 A G 158 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=253;DER=18;DEA=47;QR=38;QA=38;PBP=105;PBM=56;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2790347,g1000:0.4623,GnomAD_AC_genome:12983,GnomAD_AN_genome:30708,GnomAD:0.4228;SGVEP=RYR2|+|NM_001035|98|c.14091-113A>G|.|intronic GT:DP:AD:DP4 0/1:10:4,6:3,1,4,2 1 237965094 147044403 G T 282 off_target VARTYPE=1;BGN=0.00115949;ARL=224;DER=35;DEA=61;QR=30;QA=37;PBP=160;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs2794820,g1000:0.4623,esp5400:0.4060,GnomAD_AC_genome:13002,GnomAD_AN_genome:30628,GnomAD:0.4245;SGVEP=RYR2|+|NM_001035|98|c.14091-62G>T|.|intronic GT:DP:AD:DP4 0/1:26:13,12:11,2,7,5 1 237965131 147044408 G A 369 off_target VARTYPE=1;BGN=0.0013919;ARL=196;DER=40;DEA=80;QR=33;QA=36;PBP=252;PBM=124;TYPE=SNP;DBXREF=dbSNP:rs9428384,g1000:0.4052,esp5400:0.3444,ExAC:0.4140,clinvar:rs9428384,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:92117,GnomAD_AN_exome:223622,GnomAD_AC_genome:11142,GnomAD_AN_genome:29934,GnomAD:0.4072;SGVEP=RYR2|+|NM_001035|98|c.14091-25G>A|.|intronic GT:DP:AD:DP4 0/1:57:39,18:24,15,12,6 1 240255568 147267465 GGGC G 10000 PASS VARTYPE=1;BGN=0.000965875;ARL=203;DER=71;DEA=78;QR=25;QA=106;PBP=2554;PBM=1445;TYPE=INDEL;DBXREF=dbSNP:rs140531536,g1000:0.7067,ExAC:0.6860,GnomAD_AC_exome:126840,GnomAD_AN_exome:169576,GnomAD_AC_genome:23316,GnomAD_AN_genome:30218,GnomAD:0.7516;SGVEP=FMN2|+|NM_001305424|1|c.174_176del|p.(Gly59del)|inframe_3 GT:DP:AD:DP4 0/1:196:49,147:11,38,90,57 1 240255571 . C G 579 low_variant_fraction VARTYPE=1;BGN=0.00167091;ARL=187;DER=20;DEA=42;QR=32;QA=35;PBP=60;PBM=802;SP=29;TYPE=SNP;SGVEP=FMN2|+|NM_001305424|1|c.162C>G|p.(Gly54:)|synonymous GT:DP:AD:DP4 0/1:201:18,35:9,9,3,32 1 240256333 676958780 G C 1143 PASS VARTYPE=1;BGN=0.0013919;ARL=226;DER=106;DEA=109;QR=35;QA=36;PBP=595;PBM=558;TYPE=SNP;DBXREF=dbSNP:rs901534417,GnomAD_AC_exome:2,GnomAD_AN_exome:16980,GnomAD:0.0001;SGVEP=FMN2|+|NM_001305424|1|c.924G>C|p.(Pro308:)|synonymous GT:DP:AD:DP4 0/1:107:56,51:26,30,26,25 1 240256822 147267831 C A 3062 PASS VARTYPE=1;BGN=0.00115949;ARL=234;DEA=114;QA=37;PBP=1522;PBM=1551;TYPE=SNP;DBXREF=dbSNP:rs10926124,g1000:0.3299,esp5400:0.3923,ExAC:0.4500,GnomAD_AC_exome:96880,GnomAD_AN_exome:210410,GnomAD_AC_genome:11815,GnomAD_AN_genome:30844,GnomAD:0.4505;SGVEP=FMN2|+|NM_001305424|1|c.1413C>A|p.(Ala471:)|synonymous GT:DP:AD:DP4 1/1:105:0,105:0,0,52,53 1 240351628 147276065 T C 850 off_target VARTYPE=1;BGN=0.00115949;ARL=198;DEA=39;QA=37;PBP=411;PBM=440;TYPE=SNP;DBXREF=dbSNP:rs4659948,g1000:0.5909,esp5400:0.6370,GnomAD_AC_genome:19160,GnomAD_AN_genome:30894,GnomAD:0.6202;SGVEP=FMN2|+|NM_001305424|5|c.1998+66T>C|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,14,15 1 240370629 147277680 C G 3149 PASS VARTYPE=1;BGN=0.00115949;ARL=236;DEA=113;QA=37;PBP=1551;PBM=1609;TYPE=SNP;DBXREF=dbSNP:rs10926166,g1000:0.2873,esp5400:0.3520,ExAC:0.3480,GnomAD_AC_exome:84225,GnomAD_AN_exome:246152,GnomAD_AC_genome:10681,GnomAD_AN_genome:30674,GnomAD:0.3428;SGVEP=FMN2|+|NM_001305424|6|c.2529C>G|p.(Thr843:)|synonymous GT:DP:AD:DP4 1/1:108:0,108:0,0,53,55 1 240371106 147278078 C T 233 low_coverage VARTYPE=1;BGN=0.00200585;ARL=173;DER=38;DEA=83;QR=20;QA=34;PBP=135;PBM=101;TYPE=SNP;DBXREF=dbSNP:rs11586155,esp5400:0.2838,GnomAD_AC_exome:26055,GnomAD_AN_exome:98828,GnomAD:0.2636;SGVEP=FMN2|+|NM_001305424|6|c.3006C>T|p.(Pro1002:)|synonymous GT:DP:AD:DP4 1/1:10:1,9:0,1,5,4 1 240601269 147306503 A G 499 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=272;DEA=43;QA=37;PBP=264;PBM=235;TYPE=SNP;DBXREF=dbSNP:rs2356386,g1000:0.9273,GnomAD_AC_genome:28666,GnomAD_AN_genome:30978,GnomAD:0.9254;SGVEP=FMN2|+|NM_001305424|17|c.4923-92A>G|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 1 240975213 147352679 T C 607 PASS VARTYPE=1;BGN=0.00115949;ARL=213;DER=81;DEA=59;QR=37;QA=37;PBP=308;PBM=306;TYPE=SNP;DBXREF=dbSNP:rs2275742,g1000:0.4046,esp5400:0.4698,ExAC:0.5050,GnomAD_AC_exome:125044,GnomAD_AN_exome:246058,GnomAD_AC_genome:15293,GnomAD_AN_genome:30882,GnomAD:0.5067;SGVEP=RGS7|-|NM_001282773|12|c.923+5A>G|.|intronic GT:DP:AD:DP4 0/1:55:29,26:14,15,13,13 1 241146322 147370501 A G 263 low_coverage;off_target VARTYPE=1;BGN=0.00115949;ARL=226;DER=60;DEA=53;QR=38;QA=37;PBP=134;PBM=134;TYPE=SNP;DBXREF=dbSNP:rs7520707,g1000:0.3560,esp5400:0.3828,GnomAD_AC_genome:11184,GnomAD_AN_genome:30916,GnomAD:0.3618;SGVEP=RGS7|-|NM_001282773|4|c.226+57T>C|.|intronic GT:DP:AD:DP4 0/1:14:4,10:2,2,5,5 1 241519098 147399493 T A 1532 off_target VARTYPE=1;BGN=0.000965875;ARL=224;DEA=63;QA=38;PBP=752;PBM=782;TYPE=SNP;DBXREF=dbSNP:rs4659599,g1000:0.9483,esp5400:0.9504,ExAC:0.9780,GnomAD_AC_exome:240614,GnomAD_AN_exome:245596,GnomAD_AC_genome:29575,GnomAD_AN_genome:30952,GnomAD:0.9770;SGVEP=RGS7|-|NM_001282773|2|c.-22A>T|.|5'UTR GT:DP:AD:DP4 1/1:51:0,51:0,0,25,26 1 242016590 147447675 C T 297 off_target VARTYPE=1;BGN=0.000965875;ARL=251;DER=41;DEA=63;QR=35;QA=38;PBP=151;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs4149867,g1000:0.1394,GnomAD_AC_genome:5072,GnomAD_AN_genome:30940,GnomAD:0.1639;SGVEP=EXO1|+|NM_001319224|5|c.282-70C>T|.|intronic GT:DP:AD:DP4 0/1:24:12,12:6,6,6,6 1 242030151 147449360 A G 442 PASS VARTYPE=1;BGN=0.0013919;ARL=214;DER=61;DEA=63;QR=36;QA=36;PBP=237;PBM=213;TYPE=SNP;DBXREF=dbSNP:rs735943,g1000:0.6370,esp5400:0.5673,ExAC:0.5930,PhyloP:-0.3690,SIFT:0.0030,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.8800,MutationTaster:0.0000,GERP:-0.8210,GnomAD_AC_exome:147008,GnomAD_AN_exome:246172,GnomAD_AC_genome:18733,GnomAD_AN_genome:30876,GnomAD:0.5982;SGVEP=EXO1|+|NM_001319224|10|c.1061A>G|p.(His354Arg)|missense GT:DP:AD:DP4 0/1:59:38,21:19,19,11,10 1 242042545 147450812 A G 2366 PASS VARTYPE=1;BGN=0.00115949;ARL=223;DEA=102;QA=37;PBP=1200;PBM=1171;TYPE=SNP;DBXREF=dbSNP:rs1776148,g1000:0.6819,esp5400:0.6522,ExAC:0.6550,PhyloP:-1.4740,SIFT:0.6180,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0120,MutationTaster:0.0000,GERP:-5.5100,GnomAD_AC_exome:152820,GnomAD_AN_exome:232372,GnomAD_AC_genome:20621,GnomAD_AN_genome:30920,GnomAD:0.6587;SGVEP=EXO1|+|NM_001319224|12|c.2006A>G|p.(Glu669Gly)|missense GT:DP:AD:DP4 1/1:81:0,81:0,0,41,40 1 242042690 147450855 A G 703 off_target VARTYPE=1;BGN=0.00115949;ARL=205;DEA=35;QA=37;PBP=323;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs1418760,g1000:0.7302,esp5400:0.7784,ExAC:0.7680,GnomAD_AC_exome:157557,GnomAD_AN_exome:201642,GnomAD_AC_genome:23666,GnomAD_AN_genome:30924,GnomAD:0.7792;SGVEP=EXO1|+|NM_001319224|12|c.2106+45A>G|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,11,13 1 242045275 147451087 C T 932 PASS VARTYPE=1;BGN=0.000965875;ARL=216;DEA=101;QA=38;PBP=482;PBM=452;TYPE=SNP;DBXREF=dbSNP:rs1635498,g1000:0.9153,esp5400:0.9446,ExAC:0.9560,PhyloP:0.3150,SIFT:0.8120,PolyPhen2:0.3400,PolyPhen2_HumDiv:0.8500,LRT:0.9340,MutationTaster:0.0000,GERP:1.8400,GnomAD_AC_exome:235308,GnomAD_AN_exome:245526,GnomAD_AC_genome:29204,GnomAD_AN_genome:30864,GnomAD:0.9570;SGVEP=EXO1|+|NM_001319224|13|c.2164C>T|p.(Arg722Cys)|missense GT:DP:AD:DP4 1/1:31:0,31:0,0,16,15 1 242048674 147451429 C T 845 PASS VARTYPE=1;BGN=0.00115949;ARL=201;DER=64;DEA=59;QR=37;QA=37;PBP=425;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs9350,g1000:0.2516,esp5400:0.1639,ExAC:0.2030,PhyloP:2.8360,SIFT:0.9790,PolyPhen2:0.3890,PolyPhen2_HumDiv:0.8270,LRT:1.0000,MutationTaster:0.0400,GERP:6.0000,GnomAD_AC_exome:51443,GnomAD_AN_exome:245664,GnomAD_AC_genome:5851,GnomAD_AN_genome:30858,GnomAD:0.2072;SGVEP=EXO1|+|NM_001319224|14|c.2267C>T|p.(Pro756Leu)|missense GT:DP:AD:DP4 0/1:73:37,36:19,18,18,18 1 243419429 147626188 T A 491 off_target VARTYPE=1;BGN=0.00115949;ARL=227;DER=37;DEA=61;QR=37;QA=37;PBP=274;PBM=223;TYPE=SNP;DBXREF=dbSNP:rs3904682,g1000:0.4121,esp5400:0.3845,ExAC:0.4850,clinvar:rs3904682,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:122879,GnomAD_AN_exome:245988,GnomAD_AC_genome:12871,GnomAD_AN_genome:30896,GnomAD:0.4903;SGVEP=SDCCAG8|+|NM_006642|1|c.-47T>A|.|5'UTR GT:DP:AD:DP4 0/1:35:15,20:8,7,11,9 1 243471462 147634716 C T 917 PASS VARTYPE=1;BGN=0.000965875;ARL=244;DER=83;DEA=80;QR=37;QA=38;PBP=463;PBM=463;TYPE=SNP;DBXREF=dbSNP:rs976529,g1000:0.0102,esp5400:0.0228,ExAC:0.0200,clinvar:rs976529,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:4950,GnomAD_AN_exome:246158,GnomAD_AC_genome:552,GnomAD_AN_genome:30976,GnomAD:0.0199;SGVEP=SDCCAG8|+|NM_006642|8|c.912C>T|p.(Thr304:)|synonymous GT:DP:AD:DP4 0/1:60:24,36:12,12,18,18 1 247587477 148083006 G A 2841 PASS VARTYPE=1;BGN=0.0013919;ARL=250;DEA=123;QA=36;PBP=1367;PBM=1481;TYPE=SNP;DBXREF=dbSNP:rs3806268,g1000:0.3874,esp5400:0.4049,ExAC:0.4990,clinvar:rs3806268,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:123875,GnomAD_AN_exome:246058,GnomAD_AC_genome:13307,GnomAD_AN_genome:30852,GnomAD:0.4954;SGVEP=NLRP3|+|NM_001079821|5|c.732G>A|p.(Ala244:)|synonymous GT:DP:AD:DP4 1/1:100:0,100:0,0,48,52 1 247587531 120336 A G 2615 PASS VARTYPE=1;BGN=0.0013919;ARL=249;DER=37;DEA=121;QR=11;QA=36;PBP=1282;PBM=1339;TYPE=SNP;DBXREF=dbSNP:rs4925543,g1000:0.9199,esp5400:0.9196,ExAC:0.9430,clinvar:rs4925543,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:232912,GnomAD_AN_exome:246160,GnomAD_AC_genome:28863,GnomAD_AN_genome:30928,GnomAD:0.9447;SGVEP=NLRP3|+|NM_001079821|5|c.786A>G|p.(Arg262:)|synonymous GT:DP:AD:DP4 1/1:92:0,92:0,0,45,47 1 247588053 148083156 C T 921 PASS VARTYPE=1;BGN=0.00115949;ARL=217;DER=99;DEA=108;QR=37;QA=37;PBP=492;PBM=440;TYPE=SNP;DBXREF=dbSNP:rs34298354,g1000:0.0657,esp5400:0.0906,ExAC:0.1010,clinvar:rs34298354,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:24845,GnomAD_AN_exome:245364,GnomAD_AC_genome:2882,GnomAD_AN_genome:30940,GnomAD:0.1003;SGVEP=NLRP3|+|NM_001079821|5|c.1308C>T|p.(Ser436:)|synonymous GT:DP:AD:DP4 0/1:111:69,42:34,35,22,20 1 247597297 148088059 T C 129 off_target VARTYPE=1;BGN=0.00289059;ARL=247;DER=42;DEA=26;QR=36;QA=32;PBP=55;PBM=78;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12143631;SGVEP=NLRP3|+|NM_001079821|7|c.2328-108T>C|.|intronic GT:DP:AD:DP4 0/1:20:13,7:7,6,3,4 1 247597302 148088062 A G 137 low_coverage;off_target VARTYPE=1;BGN=0.000965875;ARL=247;DER=47;DEA=34;QR=36;QA=38;PBP=70;PBM=71;SP=0;TYPE=SNP;DBXREF=dbSNP:rs80316563;SGVEP=NLRP3|+|NM_001079821|7|c.2328-103A>G|.|intronic GT:DP:AD:DP4 0/1:19:13,6:7,6,3,3 1 247597306 148088063 C T 122 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=250;DER=47;DEA=38;QR=36;QA=35;PBP=63;PBM=64;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10925020,GnomAD_AC_genome:330,GnomAD_AN_genome:14278,GnomAD:0.0231;SGVEP=NLRP3|+|NM_001079821|7|c.2328-99C>T|.|intronic GT:DP:AD:DP4 0/1:19:13,6:7,6,3,3 1 247597313 148088065 T C 126 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=250;DER=54;DEA=36;QR=34;QA=35;PBP=40;PBM=93;SP=5;TYPE=SNP;DBXREF=dbSNP:rs79889383;SGVEP=NLRP3|+|NM_001079821|7|c.2328-92T>C|.|intronic GT:DP:AD:DP4 0/1:17:11,6:7,4,2,4 1 247597314 148088066 C T 126 low_coverage;off_target VARTYPE=1;BGN=0.00167091;ARL=250;DER=55;DEA=37;QR=31;QA=35;PBP=40;PBM=93;SP=5;TYPE=SNP;DBXREF=dbSNP:rs55687367;SGVEP=NLRP3|+|NM_001079821|7|c.2328-91C>T|.|intronic GT:DP:AD:DP4 0/1:17:11,6:7,4,2,4 1 247597318 148088067 A G 135 off_target VARTYPE=1;BGN=0.000965875;ARL=251;DER=65;DEA=41;QR=36;QA=38;PBP=44;PBM=97;SP=2;TYPE=SNP;DBXREF=dbSNP:rs74997528;SGVEP=NLRP3|+|NM_001079821|7|c.2328-87A>G|.|intronic GT:DP:AD:DP4 0/1:20:14,6:8,6,2,4 1 247597323 148088069 G A 104 off_target VARTYPE=1;BGN=0.000965875;ARL=243;DER=52;DEA=48;QR=34;QA=38;PBP=42;PBM=67;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10925021;SGVEP=NLRP3|+|NM_001079821|7|c.2328-82G>A|.|intronic GT:DP:AD:DP4 0/1:24:19,5:10,9,2,3 1 247597329 148088070 C T 827 off_target VARTYPE=1;BGN=0.0013919;ARL=238;DEA=52;QA=36;PBP=400;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs12124866,g1000:0.9177,GnomAD_AC_genome:26221,GnomAD_AN_genome:28488,GnomAD:0.9204;SGVEP=NLRP3|+|NM_001079821|7|c.2328-76C>T|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,14,15 1 247597334 148088071 T G 134 off_target VARTYPE=1;BGN=0.0013919;ARL=241;DER=49;DEA=63;QR=36;QA=36;PBP=58;PBM=81;SP=0;TYPE=SNP;DBXREF=dbSNP:rs75201011;SGVEP=NLRP3|+|NM_001079821|7|c.2328-71T>G|.|intronic GT:DP:AD:DP4 0/1:33:26,7:13,13,3,4 1 247597337 148088072 T C 132 off_target VARTYPE=1;BGN=0.0013919;ARL=241;DER=49;DEA=66;QR=36;QA=36;PBP=57;PBM=81;SP=2;TYPE=SNP;DBXREF=dbSNP:rs76317059;SGVEP=NLRP3|+|NM_001079821|7|c.2328-68T>C|.|intronic GT:DP:AD:DP4 0/1:35:28,7:15,13,3,4 1 247597339 148088073 C T 138 off_target VARTYPE=1;BGN=0.00115949;ARL=241;DER=51;DEA=68;QR=35;QA=37;PBP=59;PBM=85;SP=2;TYPE=SNP;DBXREF=dbSNP:rs77719569;SGVEP=NLRP3|+|NM_001079821|7|c.2328-66C>T|.|intronic GT:DP:AD:DP4 0/1:34:27,7:15,12,3,4 1 247597344 148088074 G A 124 low_variant_fraction;off_target VARTYPE=1;BGN=0.00167091;ARL=239;DER=52;DEA=73;QR=37;QA=35;PBP=54;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs61841186;SGVEP=NLRP3|+|NM_001079821|7|c.2328-61G>A|.|intronic GT:DP:AD:DP4 0/1:38:31,7:16,15,3,4 1 247597348 148088075 T C 123 low_variant_fraction;off_target VARTYPE=1;BGN=0.00167091;ARL=239;DER=54;DEA=77;QR=36;QA=35;PBP=54;PBM=74;SP=0;TYPE=SNP;DBXREF=dbSNP:rs80093553,g1000:0.0144;SGVEP=NLRP3|+|NM_001079821|7|c.2328-57T>C|.|intronic GT:DP:AD:DP4 0/1:39:32,7:16,16,3,4 1 247597349 148088076 G A 201 off_target VARTYPE=1;BGN=0.00200585;ARL=237;DER=57;DEA=50;QR=37;QA=34;PBP=92;PBM=115;SP=0;TYPE=SNP;DBXREF=dbSNP:rs75241539;SGVEP=NLRP3|+|NM_001079821|7|c.2328-56G>A|.|intronic GT:DP:AD:DP4 0/1:42:31,11:16,15,5,6 1 247597365 148088084 G A 1708 off_target VARTYPE=1;BGN=0.0013919;ARL=222;DEA=54;QA=36;PBP=799;PBM=912;TYPE=SNP;DBXREF=dbSNP:rs10925022,g1000:0.7887,esp5400:0.9067,GnomAD_AC_genome:8029,GnomAD_AN_genome:25616,GnomAD:0.3134;SGVEP=NLRP3|+|NM_001079821|7|c.2328-40G>A|.|intronic GT:DP:AD:DP4 1/1:60:0,60:0,0,28,32 1 247597656 148088175 TGGGG TGGG 132 low_coverage;off_target VARTYPE=1;BGN=0.0219187;ARL=261;DER=5;DEA=45;QR=32;QA=36;HL=4;PBP=59;PBM=75;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs397983662,g1000:0.4762,GnomAD_AC_genome:16943,GnomAD_AN_genome:30872,GnomAD:0.5488;SGVEP=NLRP3|+|NM_001079821|7|c.2498+85del|.|intronic GT:DP:AD:DP4 1/1:11:2,9:1,1,4,5 1 247599232 148088278 G A 1197 off_target VARTYPE=1;BGN=0.0013919;ARL=248;DEA=56;QA=36;PBP=656;PBM=542;TYPE=SNP;DBXREF=dbSNP:rs10754557,g1000:0.4840,esp5400:0.4951,ExAC:0.5850,GnomAD_AC_exome:145006,GnomAD_AN_exome:244878,GnomAD_AC_genome:16268,GnomAD_AN_genome:30850,GnomAD:0.5849;SGVEP=NLRP3|+|NM_001079821|8|c.2499-40G>A|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,23,19 1 247608167 148088891 C A 479 off_target VARTYPE=1;BGN=0.0013919;ARL=236;DER=32;DEA=63;QR=36;QA=36;PBP=243;PBM=243;TYPE=SNP;DBXREF=dbSNP:rs45624634,g1000:0.0972,esp5400:0.1347,ExAC:0.1370,GnomAD_AC_exome:33691,GnomAD_AN_exome:238860,GnomAD_AC_genome:3975,GnomAD_AN_genome:30922,GnomAD:0.1396;SGVEP=NLRP3|+|NM_001079821|10|c.3011+44C>A|.|intronic GT:DP:AD:DP4 0/1:34:14,20:7,7,10,10 1 247835352 148111739 C T 616 off_target VARTYPE=1;BGN=0.00115949;ARL=239;DEA=38;QA=37;PBP=323;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs1151641,g1000:0.8083,GnomAD_AC_genome:24205,GnomAD_AN_genome:30882,GnomAD:0.7838;SGVEP=OR13G1|-|NM_001005487|1|.|.|intergenic GT:DP:AD:DP4 1/1:21:0,21:0,0,11,10 1 247835950 148111988 T C 2395 PASS VARTYPE=1;BGN=0.00115949;ARL=237;DEA=116;QA=37;PBP=1171;PBM=1230;TYPE=SNP;DBXREF=dbSNP:rs1151640,g1000:0.4060,esp5400:0.3353,ExAC:0.4450,PhyloP:-0.7550,SIFT:0.7940,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0020,LRT:0.7750,MutationTaster:0.0000,GERP:-3.4000,GnomAD_AC_exome:112406,GnomAD_AN_exome:245670,GnomAD_AC_genome:11225,GnomAD_AN_genome:30862,GnomAD:0.4471;SGVEP=OR13G1|-|NM_001005487|1|c.394A>G|p.(Ile132Val)|missense GT:DP:AD:DP4 1/1:82:0,82:0,0,40,42 2 264895 126815805 G C 1394 PASS VARTYPE=1;BGN=0.00105744;ARL=220;DEA=59;QA=37;PBP=772;PBM=624;TYPE=SNP;DBXREF=dbSNP:rs4854300,g1000:0.9990,esp5400:0.9991,GnomAD_AC_genome:30921,GnomAD_AN_genome:30944,GnomAD:0.9993;SGVEP=ACP1|+|NM_001040649|1|c.-70G>C|.|5'UTR GT:DP:AD:DP4 1/1:47:0,47:0,0,26,21 2 276908 126821831 C G 327 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=274;DEA=35;QA=37;PBP=149;PBM=178;TYPE=SNP;DBXREF=dbSNP:rs7568288,g1000:0.9213,GnomAD_AC_genome:28287,GnomAD_AN_genome:30974,GnomAD:0.9132;SGVEP=ACP1|+|NM_004300|5|c.294-72C>G|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 2 276942 126821845 A G 363 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=247;DER=81;DEA=42;QR=38;QA=38;PBP=169;PBM=198;TYPE=SNP;DBXREF=dbSNP:rs7573495,g1000:0.3209,esp5400:0.2904,ExAC:0.3260,GnomAD_AC_exome:72724,GnomAD_AN_exome:217880,GnomAD_AC_genome:10117,GnomAD_AN_genome:30912,GnomAD:0.3330;SGVEP=ACP1|+|NM_004300|5|c.294-38A>G|.|intronic GT:DP:AD:DP4 0/1:17:4,13:2,2,6,7 2 1079130 127159863 G A 780 off_target VARTYPE=1;BGN=0.00127257;ARL=259;DEA=48;QA=36;PBP=463;PBM=318;TYPE=SNP;DBXREF=dbSNP:rs4971429,g1000:0.5477,GnomAD_AC_genome:17054,GnomAD_AN_genome:30718,GnomAD:0.5552;SGVEP=SNTG2|+|NM_018968|2|c.73-74G>A|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,16,11 2 1079132 127159875 G A 838 off_target VARTYPE=1;BGN=0.00127257;ARL=256;DEA=47;QA=36;PBP=492;PBM=347;TYPE=SNP;DBXREF=dbSNP:rs4971430,g1000:0.5481,GnomAD_AC_genome:17098,GnomAD_AN_genome:30726,GnomAD:0.5565;SGVEP=SNTG2|+|NM_018968|2|c.73-72G>A|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,17,12 2 1079143 127159888 A G 1069 off_target VARTYPE=1;BGN=0.00105744;ARL=247;DEA=53;QA=37;PBP=594;PBM=476;TYPE=SNP;DBXREF=dbSNP:rs4971431,g1000:0.7572,GnomAD_AC_genome:23935,GnomAD_AN_genome:30884,GnomAD:0.7750;SGVEP=SNTG2|+|NM_018968|2|c.73-61A>G|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,20,16 2 1079320 127159988 C T 2596 PASS VARTYPE=1;BGN=0.00105744;ARL=220;DER=61;DEA=65;QR=38;QA=37;PBP=1289;PBM=1318;TYPE=SNP;DBXREF=dbSNP:rs4971432,g1000:0.6691,esp5400:0.7257,ExAC:0.7340,GnomAD_AC_exome:182533,GnomAD_AN_exome:245914,GnomAD_AC_genome:22424,GnomAD_AN_genome:30904,GnomAD:0.7404;SGVEP=SNTG2|+|NM_018968|2|c.189C>T|p.(Gly63:)|synonymous GT:DP:AD:DP4 1/1:91:2,89:1,1,44,45 2 1079442 127160046 G A 434 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=264;DEA=35;QA=36;PBP=174;PBM=260;TYPE=SNP;DBXREF=dbSNP:rs35463228,g1000:0.2025,GnomAD_AC_genome:10155,GnomAD_AN_genome:30884,GnomAD:0.3288;SGVEP=SNTG2|+|NM_018968|2|c.210+101G>A|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,6,9 2 1093965 127162839 G A 1026 off_target VARTYPE=1;BGN=0.00105744;ARL=223;DER=99;DEA=99;QR=35;QA=37;PBP=492;PBM=543;TYPE=SNP;DBXREF=dbSNP:rs11127460,g1000:0.2979,esp5400:0.3959,ExAC:0.4180,GnomAD_AC_exome:102607,GnomAD_AN_exome:246166,GnomAD_AC_genome:12361,GnomAD_AN_genome:30926,GnomAD:0.4149;SGVEP=SNTG2|+|NM_018968|3|c.267+27G>A|.|intronic GT:DP:AD:DP4 0/1:61:21,40:10,11,19,21 2 1168781 127199410 C A 472 PASS VARTYPE=1;BGN=0.00105744;ARL=206;DER=71;DEA=55;QR=38;QA=37;PBP=237;PBM=242;TYPE=SNP;DBXREF=dbSNP:rs28505970,g1000:0.2063,esp5400:0.1977,ExAC:0.1630,PhyloP:2.0670,SIFT:0.9960,PolyPhen2:0.9960,PolyPhen2_HumDiv:0.9990,LRT:1.0000,MutationTaster:1.0000,GERP:4.5800,GnomAD_AC_exome:38631,GnomAD_AN_exome:246006,GnomAD_AC_genome:5974,GnomAD_AN_genome:30914,GnomAD:0.1611;SGVEP=SNTG2|+|NM_018968|8|c.503C>A|p.(Ser168Tyr)|missense GT:DP:AD:DP4 0/1:44:24,20:13,11,10,10 2 1204796 127204953 C T 951 PASS VARTYPE=1;BGN=0.00105744;ARL=221;DER=84;DEA=60;QR=37;QA=37;PBP=483;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs6751090,g1000:0.2059,esp5400:0.1739,ExAC:0.1120,PhyloP:1.9310,SIFT:0.9960,PolyPhen2:0.5600,PolyPhen2_HumDiv:0.9870,LRT:0.9990,MutationTaster:1.0000,GERP:4.0300,GnomAD_AC_exome:25586,GnomAD_AN_exome:246020,GnomAD_AC_genome:4910,GnomAD_AN_genome:30940,GnomAD:0.1101;SGVEP=SNTG2|+|NM_018968|9|c.599C>T|p.(Ser200Leu)|missense GT:DP:AD:DP4 0/1:82:42,40:20,22,20,20 2 1241502 127219225 G T 152 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=279;DER=32;DEA=36;QR=32;QA=37;PBP=104;PBM=52;SP=0;TYPE=SNP;DBXREF=dbSNP:rs28628894,g1000:0.3019,GnomAD_AC_genome:6622,GnomAD_AN_genome:30928,GnomAD:0.2141;SGVEP=SNTG2|+|NM_018968|10|c.720-158G>T|.|intronic GT:DP:AD:DP4 0/1:11:5,6:3,2,4,2 2 1241592 127219237 C T 1357 off_target VARTYPE=1;BGN=0.00127257;ARL=258;DEA=63;QA=36;PBP=752;PBM=607;TYPE=SNP;DBXREF=dbSNP:rs146197111,g1000:0.9994,GnomAD_AC_genome:30850,GnomAD_AN_genome:30972,GnomAD:0.9961;SGVEP=SNTG2|+|NM_018968|10|c.720-68C>T|.|intronic GT:DP:AD:DP4 1/1:47:0,47:0,0,26,21 2 1241623 127219275 G A 654 off_target VARTYPE=1;BGN=0.00105744;ARL=249;DER=59;DEA=90;QR=36;QA=37;PBP=338;PBM=325;TYPE=SNP;DBXREF=dbSNP:rs28541377,g1000:0.2726,esp5400:0.2032,ExAC:0.1380,GnomAD_AC_exome:28622,GnomAD_AN_exome:185308,GnomAD_AC_genome:6016,GnomAD_AN_genome:30916,GnomAD:0.1602;SGVEP=SNTG2|+|NM_018968|10|c.720-37G>A|.|intronic GT:DP:AD:DP4 0/1:75:46,29:26,20,15,14 2 1241883 127225364 G A 350 off_target VARTYPE=1;BGN=0.00105744;ARL=259;DER=25;DEA=48;QR=36;QA=37;PBP=179;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs35402865,g1000:0.0823,GnomAD_AC_genome:3024,GnomAD_AN_genome:30940,GnomAD:0.0977;SGVEP=SNTG2|+|NM_018968|10|c.849+94G>A|.|intronic GT:DP:AD:DP4 0/1:25:11,14:5,6,7,7 2 1243447 127226428 A G 462 off_target VARTYPE=1;BGN=0.00105744;ARL=221;DER=72;DEA=28;QR=37;QA=37;PBP=232;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs58094864,g1000:0.2738,esp5400:0.1790,GnomAD_AC_genome:6024,GnomAD_AN_genome:30918,GnomAD:0.1948;SGVEP=SNTG2|+|NM_018968|11|c.850-63A>G|.|intronic GT:DP:AD:DP4 0/1:48:28,20:15,13,10,10 2 1243608 127226744 A C 749 off_target VARTYPE=1;BGN=0.00127257;ARL=223;DER=27;DEA=58;QR=34;QA=36;PBP=365;PBM=392;TYPE=SNP;DBXREF=dbSNP:rs28570180,g1000:0.0827,esp5400:0.0986,GnomAD_AC_genome:3012,GnomAD_AN_genome:30954,GnomAD:0.0973;SGVEP=SNTG2|+|NM_018968|11|c.888+60A>C|.|intronic GT:DP:AD:DP4 0/1:53:22,31:11,11,15,16 2 1243645 127226814 T G 417 off_target VARTYPE=1;BGN=0.00105744;ARL=246;DER=15;DEA=61;QR=36;QA=37;PBP=211;PBM=211;TYPE=SNP;DBXREF=dbSNP:rs28411047,g1000:0.0827,GnomAD_AC_genome:3021,GnomAD_AN_genome:30962,GnomAD:0.0976;SGVEP=SNTG2|+|NM_018968|11|c.888+97T>G|.|intronic GT:DP:AD:DP4 0/1:24:8,16:4,4,8,8 2 1251087 127230107 A AAAGGTT 1916 off_target VARTYPE=1;BGN=0.000878683;ARL=234;DEA=62;QA=223;PBP=1006;PBM=915;TYPE=INDEL;DBXREF=dbSNP:rs58278307,ExAC:0.2780,GnomAD_AC_exome:66295,GnomAD_AN_exome:242136,GnomAD_AC_genome:9190,GnomAD_AN_genome:30820,GnomAD:0.2765;SGVEP=SNTG2|+|NM_018968|12|c.889-12_889-11insAAGGTT|.|intronic GT:DP:AD:DP4 1/1:63:0,63:0,0,33,30 2 1251088 127230119 C T 1926 off_target VARTYPE=1;BGN=0.00105744;ARL=235;DEA=67;QA=37;PBP=1009;PBM=920;TYPE=SNP;DBXREF=dbSNP:rs55953201,ExAC:0.2780,GnomAD_AC_exome:66649,GnomAD_AN_exome:242714,GnomAD_AC_genome:9194,GnomAD_AN_genome:30822,GnomAD:0.2773;SGVEP=SNTG2|+|NM_018968|12|c.889-11C>T|.|intronic GT:DP:AD:DP4 1/1:65:0,65:0,0,34,31 2 1263297 127234434 G A 293 off_target VARTYPE=1;BGN=0.00127257;ARL=247;DER=42;DEA=68;QR=34;QA=36;PBP=150;PBM=147;TYPE=SNP;DBXREF=dbSNP:rs9330341,g1000:0.2770,GnomAD_AC_genome:6333,GnomAD_AN_genome:30918,GnomAD:0.2048;SGVEP=SNTG2|+|NM_018968|13|c.1077+84G>A|.|intronic GT:DP:AD:DP4 0/1:21:9,12:4,5,6,6 2 1271110 127237917 G T 504 off_target VARTYPE=1;BGN=0.00127257;ARL=237;DER=47;DEA=56;QR=37;QA=36;PBP=282;PBM=227;TYPE=SNP;DBXREF=dbSNP:rs28626835,g1000:0.2368,esp5400:0.1707,ExAC:0.1350,GnomAD_AC_exome:28739,GnomAD_AN_exome:180806,GnomAD_AC_genome:5360,GnomAD_AN_genome:30930,GnomAD:0.1610;SGVEP=SNTG2|+|NM_018968|14|c.1078-27G>T|.|intronic GT:DP:AD:DP4 0/1:30:10,20:5,5,11,9 2 1271230 127238077 A G 2363 PASS VARTYPE=1;BGN=0.00127257;ARL=209;DEA=76;QA=36;PBP=1184;PBM=1184;TYPE=SNP;DBXREF=dbSNP:rs13023962,g1000:0.3600,esp5400:0.3034,ExAC:0.2710,PhyloP:-0.2230,SIFT:0.0000,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0010,LRT:1.0000,MutationTaster:0.0010,GERP:1.6700,GnomAD_AC_exome:64407,GnomAD_AN_exome:244976,GnomAD_AC_genome:9252,GnomAD_AN_genome:30928,GnomAD:0.2670;SGVEP=SNTG2|+|NM_018968|14|c.1171A>G|p.(Ile391Val)|missense GT:DP:AD:DP4 1/1:82:0,82:0,0,41,41 2 1271426 127238423 C T 492 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=266;DEA=57;QA=36;PBP=203;PBM=289;TYPE=SNP;DBXREF=dbSNP:rs12997053,g1000:0.3636,GnomAD_AC_genome:9260,GnomAD_AN_genome:30914,GnomAD:0.2995;SGVEP=SNTG2|+|NM_018968|14|c.1284+83C>T|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,7,10 2 1320143 127266276 C T 921 PASS VARTYPE=1;BGN=0.000878683;ARL=215;DER=64;DEA=66;QR=37;QA=38;PBP=439;PBM=492;TYPE=SNP;DBXREF=dbSNP:rs4927635,g1000:0.5054,esp5400:0.5034,ExAC:0.5250,PhyloP:-0.4960,SIFT:0.7350,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0420,LRT:1.0000,MutationTaster:0.5480,GERP:-0.9290,GnomAD_AC_exome:80693,GnomAD_AN_exome:150106,GnomAD_AC_genome:16031,GnomAD_AN_genome:30868,GnomAD:0.5345;SGVEP=SNTG2|+|NM_018968|16|c.1484C>T|p.(Thr495Met)|missense GT:DP:AD:DP4 0/1:108:68,40:34,34,19,21 2 1418192 127308641 C G 120 low_variant_fraction VARTYPE=1;BGN=0.000878683;ARL=197;DER=85;DEA=48;QR=35;QA=38;PBP=63;PBM=62;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9678281,g1000:0.3117,esp5400:0.3497,ExAC:0.3600,clinvar:rs9678281,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:89631,GnomAD_AN_exome:244746,GnomAD_AC_genome:11172,GnomAD_AN_genome:30908,GnomAD:0.3657;SGVEP=TPO|+|NM_000547|2|c.12C>G|p.(Leu4:)|synonymous GT:DP:AD:DP4 0/1:36:30,6:14,16,3,3 2 1437410 127317594 C T 1276 off_target VARTYPE=1;BGN=0.00105744;ARL=243;DEA=48;QA=37;PBP=594;PBM=683;TYPE=SNP;DBXREF=dbSNP:rs4927578,g1000:0.4373,esp5400:0.4952,ExAC:0.5410,GnomAD_AC_exome:128261,GnomAD_AN_exome:231870,GnomAD_AC_genome:15866,GnomAD_AN_genome:30866,GnomAD:0.5486;SGVEP=TPO|+|NM_000547|4|c.349+31C>T|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,20,23 2 1457364 127337680 A G 297 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=261;DEA=49;QA=37;PBP=178;PBM=119;TYPE=SNP;DBXREF=dbSNP:rs2070881,g1000:0.9277,GnomAD_AC_genome:28405,GnomAD_AN_genome:30910,GnomAD:0.9190;SGVEP=TPO|+|NM_000547|6|c.483-102A>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,6,4 2 1459806 127338680 A G 1039 off_target VARTYPE=1;BGN=0.00105744;ARL=233;DEA=61;QA=37;PBP=535;PBM=505;TYPE=SNP;DBXREF=dbSNP:rs4927610,g1000:0.9353,esp5400:0.9273,ExAC:0.9420,GnomAD_AC_exome:216295,GnomAD_AN_exome:228556,GnomAD_AC_genome:28590,GnomAD_AN_genome:30928,GnomAD:0.9437;SGVEP=TPO|+|NM_000547|7|c.613-42A>G|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,18,17 2 1460004 127339031 G T 1093 PASS VARTYPE=1;BGN=0.000878683;ARL=219;DER=92;DEA=72;QR=36;QA=38;PBP=542;PBM=561;TYPE=SNP;DBXREF=dbSNP:rs4927611,g1000:0.3654,esp5400:0.3806,ExAC:0.3790,PhyloP:0.1210,SIFT:0.9610,PolyPhen2:0.4070,PolyPhen2_HumDiv:0.7160,LRT:0.3340,MutationTaster:0.0000,GERP:0.4930,clinvar:rs4927611,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:94064,GnomAD_AN_exome:245960,GnomAD_AC_genome:11410,GnomAD_AN_genome:30906,GnomAD:0.3810;SGVEP=TPO|+|NM_000547|7|c.769G>T|p.(Ala257Ser)|missense GT:DP:AD:DP4 0/1:96:51,45:24,27,22,23 2 1481155 127348748 G T 1622 PASS VARTYPE=1;BGN=0.00105744;ARL=219;DER=83;DEA=108;QR=36;QA=37;PBP=797;PBM=837;TYPE=SNP;DBXREF=dbSNP:rs2280132,g1000:0.4081,esp5400:0.4035,ExAC:0.3610,PhyloP:-0.2590,SIFT:0.2390,PolyPhen2:0.0120,PolyPhen2_HumDiv:0.0050,LRT:0.9610,MutationTaster:0.0020,GERP:-1.2700,clinvar:rs2280132,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:58904,GnomAD_AN_exome:125408,GnomAD_AC_genome:13653,GnomAD_AN_genome:30674,GnomAD:0.4649;SGVEP=TPO|+|NM_000547|8|c.1117G>T|p.(Ala373Ser)|missense GT:DP:AD:DP4 0/1:116:50,66:23,27,32,34 2 1481231 127348872 G C 1308 PASS VARTYPE=1;BGN=0.00105744;ARL=215;DER=92;DEA=97;QR=36;QA=37;PBP=599;PBM=720;TYPE=SNP;DBXREF=dbSNP:rs2175977,g1000:0.7103,esp5400:0.7845,ExAC:0.4690,PhyloP:1.0310,SIFT:0.9010,PolyPhen2:0.9650,PolyPhen2_HumDiv:0.9990,LRT:1.0000,MutationTaster:1.0000,GERP:4.0800,clinvar:rs2175977,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:75002,GnomAD_AN_exome:117444,GnomAD_AC_genome:20167,GnomAD_AN_genome:30758,GnomAD:0.6422;SGVEP=TPO|+|NM_000547|8|c.1193G>C|p.(Ser398Thr)|missense GT:DP:AD:DP4 0/1:111:56,55:26,30,25,30 2 1488668 127353157 T C 459 off_target VARTYPE=1;BGN=0.00127257;ARL=240;DER=78;DEA=50;QR=37;QA=36;PBP=237;PBM=227;TYPE=SNP;DBXREF=dbSNP:rs6715129,g1000:0.5970,esp5400:0.5488,ExAC:0.5150,GnomAD_AC_exome:124437,GnomAD_AN_exome:240712,GnomAD_AC_genome:16473,GnomAD_AN_genome:30894,GnomAD:0.5188;SGVEP=TPO|+|NM_000547|9|c.1597+42T>C|.|intronic GT:DP:AD:DP4 0/1:26:8,18:3,5,9,9 2 1497803 127357138 C T 701 PASS VARTYPE=1;BGN=0.00105744;ARL=228;DER=60;DEA=78;QR=35;QA=37;PBP=318;PBM=391;TYPE=SNP;DBXREF=dbSNP:rs1126797,g1000:0.3590,esp5400:0.3494,ExAC:0.3630,PhyloP:-1.9480,MutationTaster:1.0000,GERP:-9.6300,clinvar:rs1126797,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:90327,GnomAD_AN_exome:245226,GnomAD_AC_genome:11036,GnomAD_AN_genome:30846,GnomAD:0.3672;SGVEP=TPO|+|NM_000547|11|c.1998C>T|p.(Asp666:)|synonymous GT:DP:AD:DP4 0/1:79:48,31:23,25,14,17 2 1499728 127358092 C T 353 off_target VARTYPE=1;BGN=0.00105744;ARL=221;DER=45;DEA=47;QR=34;QA=37;PBP=192;PBM=168;TYPE=SNP;DBXREF=dbSNP:rs2276704,g1000:0.2728,esp5400:0.2810,ExAC:0.2900,GnomAD_AC_exome:70344,GnomAD_AN_exome:231226,GnomAD_AC_genome:9064,GnomAD_AN_genome:30858,GnomAD:0.3030;SGVEP=TPO|+|NM_000547|12|c.2007-33C>T|.|intronic GT:DP:AD:DP4 0/1:34:19,15:10,9,8,7 2 1499899 127358306 C T 758 PASS VARTYPE=1;BGN=0.00105744;ARL=215;DER=97;DEA=107;QR=37;QA=37;PBP=372;PBM=395;TYPE=SNP;DBXREF=dbSNP:rs732608,g1000:0.4389,esp5400:0.4109,ExAC:0.4130,PhyloP:-1.1460,SIFT:0.9930,LRT:1.0000,MutationTaster:1.0000,GERP:-5.7100,clinvar:rs732608,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:101674,GnomAD_AN_exome:244318,GnomAD_AC_genome:12686,GnomAD_AN_genome:30884,GnomAD:0.4155;SGVEP=TPO|+|NM_000547|12|c.2145C>T|p.(Pro715:)|synonymous GT:DP:AD:DP4 0/1:106:71,35:35,36,17,18 2 1499927 127358360 A C 591 PASS VARTYPE=1;BGN=0.00127257;ARL=215;DER=72;DEA=112;QR=37;QA=36;PBP=288;PBM=311;TYPE=SNP;DBXREF=dbSNP:rs732609,g1000:0.4984,esp5400:0.4696,ExAC:0.4290,PhyloP:0.9930,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:4.3900,clinvar:rs732609,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:104881,GnomAD_AN_exome:244436,GnomAD_AC_genome:14071,GnomAD_AN_genome:30882,GnomAD:0.4321;SGVEP=TPO|+|NM_000547|12|c.2173A>C|p.(Thr725Pro)|missense GT:DP:AD:DP4 0/1:98:69,29:34,35,14,15 2 1500665 127359135 C T 179 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=293;DER=90;DEA=29;QR=38;QA=37;PBP=79;PBM=104;SP=0;TYPE=SNP;DBXREF=dbSNP:rs867983,g1000:0.5192,GnomAD_AC_genome:14239,GnomAD_AN_genome:30910,GnomAD:0.4607;SGVEP=TPO|+|NM_000547|13|c.2386+128C>T|.|intronic GT:DP:AD:DP4 0/1:12:5,7:2,3,3,4 2 1520676 127368743 T C 1530 PASS VARTYPE=1;BGN=0.00127257;ARL=217;DEA=85;QA=36;PBP=752;PBM=780;TYPE=SNP;DBXREF=dbSNP:rs1126799,g1000:0.6639,esp5400:0.6118,ExAC:0.5890,PhyloP:1.3640,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.4960,MutationTaster:0.0070,GERP:4.6000,clinvar:rs1126799,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:144476,GnomAD_AN_exome:245860,GnomAD_AC_genome:19281,GnomAD_AN_genome:30900,GnomAD:0.5917;SGVEP=TPO|+|NM_000547|15|c.2540T>C|p.(Val847Ala)|missense GT:DP:AD:DP4 1/1:53:0,53:0,0,26,27 2 1544617 127385479 G A 492 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=271;DEA=42;QA=36;PBP=203;PBM=289;TYPE=SNP;DBXREF=dbSNP:rs12615819,g1000:0.3379,ExAC:0.3150,PhyloP:-1.3600,SIFT:1.0000,MutationTaster:0.0000,GERP:-2.1600,GnomAD_AC_exome:64689,GnomAD_AN_exome:175468,GnomAD_AC_genome:10568,GnomAD_AN_genome:30932,GnomAD:0.3646;SGVEP=TPO|+|NM_000547|16|c.2748+122G>A|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,7,10 2 1546361 127386414 G T 199 off_target VARTYPE=1;BGN=0.00105744;ARL=265;DER=63;DEA=56;QR=36;QA=37;PBP=90;PBM=114;SP=0;TYPE=SNP;DBXREF=dbSNP:rs28915689,g1000:0.0954,esp5400:0.0767,ExAC:0.0850,PhyloP:-1.4180,SIFT:1.0000,MutationTaster:0.0000,GERP:-0.7300,clinvar:rs28915689,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:20316,GnomAD_AN_exome:165436,GnomAD_AC_genome:2689,GnomAD_AN_genome:30970,GnomAD:0.1171;SGVEP=TPO|+|NM_000547|17|c.*115G>T|.|3'UTR GT:DP:AD:DP4 0/1:28:19,9:9,10,4,5 2 1639122 127438294 T C 583 off_target VARTYPE=1;BGN=0.00105744;ARL=228;DER=49;DEA=24;QR=36;QA=37;PBP=308;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs2241457,g1000:0.3189,GnomAD_AC_genome:7511,GnomAD_AN_genome:30878,GnomAD:0.2432;SGVEP=PXDN|-|NM_012293|22|c.4320+58A>G|.|intronic GT:DP:AD:DP4 0/1:57:32,25:16,16,13,12 2 1642537 127438543 T C 665 off_target VARTYPE=1;BGN=0.00127257;ARL=258;DEA=28;QA=36;PBP=376;PBM=289;TYPE=SNP;DBXREF=dbSNP:rs6729142,g1000:0.8782,GnomAD_AC_genome:26201,GnomAD_AN_genome:30834,GnomAD:0.8497;SGVEP=PXDN|-|NM_012293|21|c.4206+81A>G|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,13,10 2 1642539 127438546 C T 694 off_target VARTYPE=1;BGN=0.00127257;ARL=258;DEA=30;QA=36;PBP=376;PBM=318;TYPE=SNP;DBXREF=dbSNP:rs6742040,g1000:0.8744,GnomAD_AC_genome:26170,GnomAD_AN_genome:30844,GnomAD:0.8485;SGVEP=PXDN|-|NM_012293|21|c.4206+79G>A|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,13,11 2 1642545 127438549 C G 802 off_target VARTYPE=1;BGN=0.00105744;ARL=263;DEA=33;QA=37;PBP=416;PBM=386;TYPE=SNP;DBXREF=dbSNP:rs6742039,g1000:0.8782,GnomAD_AC_genome:26247,GnomAD_AN_genome:30858,GnomAD:0.8506;SGVEP=PXDN|-|NM_012293|21|c.4206+73G>C|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,14,13 2 1647171 127438884 T C 2456 PASS VARTYPE=1;BGN=0.00105744;ARL=227;DEA=91;QA=37;PBP=1305;PBM=1157;TYPE=SNP;DBXREF=dbSNP:rs6730800,g1000:0.9077,esp5400:0.8644,ExAC:0.9080,clinvar:rs6730800,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:224245,GnomAD_AN_exome:245872,GnomAD_AC_genome:26953,GnomAD_AN_genome:30942,GnomAD:0.9075;SGVEP=PXDN|-|NM_012293|19|c.3921A>G|p.(Val1307:)|synonymous GT:DP:AD:DP4 1/1:83:0,83:0,0,44,39 2 1652822 127439462 T G 10000 PASS VARTYPE=1;BGN=0.00127257;ARL=221;DER=38;DEA=102;QR=33;QA=36;PBP=2057;PBM=2219;TYPE=SNP;DBXREF=dbSNP:rs1863135,g1000:0.9355,esp5400:0.8992,ExAC:0.9150,clinvar:rs1863135,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:221634,GnomAD_AN_exome:241212,GnomAD_AC_genome:27568,GnomAD_AN_genome:30852,GnomAD:0.9160;SGVEP=PXDN|-|NM_012293|17|c.2730A>C|p.(Ile910:)|synonymous GT:DP:AD:DP4 1/1:150:1,149:1,0,72,77 2 1683874 672041358 G A 127 low_variant_fraction;off_target VARTYPE=1;BGN=0.00127257;ARL=227;DER=21;DEA=16;QR=33;QA=36;PBP=95;PBM=37;SP=0;TYPE=SNP;DBXREF=dbSNP:rs938527822;SGVEP=PXDN|-|NM_012293|7|c.730+91C>T|.|intronic GT:DP:AD:DP4 0/1:44:37,7:23,14,5,2 2 1683879 127461496 T G 203 off_target VARTYPE=1;BGN=0.00153147;ARL=227;DER=26;DEA=17;QR=35;QA=35;PBP=113;PBM=96;SP=0;TYPE=SNP;DBXREF=dbSNP:rs755645621;SGVEP=PXDN|-|NM_012293|7|c.730+86A>C|.|intronic GT:DP:AD:DP4 0/1:51:40,11:22,18,6,5 2 1683889 127461497 A G 354 off_target VARTYPE=1;BGN=0.00127257;ARL=229;DER=32;DEA=18;QR=33;QA=36;PBP=208;PBM=152;TYPE=SNP;DBXREF=dbSNP:rs777417310;SGVEP=PXDN|-|NM_012293|7|c.730+76T>C|.|intronic GT:DP:AD:DP4 0/1:55:31,17:20,11,10,7 2 1683923 127461511 G T 915 off_target VARTYPE=1;BGN=0.00153147;ARL=220;DER=53;DEA=49;QR=36;QA=35;PBP=537;PBM=389;TYPE=SNP;DBXREF=dbSNP:rs72763569,g1000:0.1012,esp5400:0.1104,ExAC:0.0450,GnomAD_AC_exome:15913,GnomAD_AN_exome:128386,GnomAD_AC_genome:4324,GnomAD_AN_genome:30722,GnomAD:0.1272;SGVEP=PXDN|-|NM_012293|7|c.730+42C>A|.|intronic GT:DP:AD:DP4 0/1:92:50,42:25,25,24,18 2 1747993 127479607 G A 131 off_target VARTYPE=1;BGN=0.00184304;ARL=223;DER=65;DEA=73;QR=34;QA=34;PBP=37;PBM=100;SP=2;TYPE=SNP;DBXREF=dbSNP:rs62116430,g1000:0.4071,esp5400:0.1869,ExAC:0.1710,GnomAD_AC_exome:21544,GnomAD_AN_exome:69402,GnomAD_AC_genome:11132,GnomAD_AN_genome:30256,GnomAD:0.3279;SGVEP=PXDN|-|NM_012293|1|c.200+35C>T|.|intronic GT:DP:AD:DP4 0/1:28:21,7:10,11,2,5 2 1842968 127503863 T C 1546 PASS VARTYPE=1;BGN=0.00105744;ARL=222;DER=79;DEA=88;QR=35;QA=37;PBP=807;PBM=753;TYPE=SNP;DBXREF=dbSNP:rs6728368,g1000:0.4567,esp5400:0.4341,ExAC:0.3630,GnomAD_AC_exome:88088,GnomAD_AN_exome:245266,GnomAD_AC_genome:12235,GnomAD_AN_genome:30876,GnomAD:0.3633;SGVEP=MYT1L|-|NM_001303052|21|c.3033A>G|p.(Gly1011:)|synonymous GT:DP:AD:DP4 0/1:163:95,68:47,48,35,33 2 1844458 127504317 T C 177 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=236;DER=18;DEA=80;QR=37;QA=36;PBP=100;PBM=81;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4381806,g1000:0.5407,GnomAD_AC_genome:15363,GnomAD_AN_genome:30864,GnomAD:0.4978;SGVEP=MYT1L|-|NM_001303052|20|c.2858+74A>G|.|intronic GT:DP:AD:DP4 0/1:11:4,7:3,1,4,3 2 1926437 127543582 G T 10000 PASS VARTYPE=1;BGN=0.00105744;ARL=236;DEA=113;QA=37;PBP=2456;PBM=2426;TYPE=SNP;DBXREF=dbSNP:rs1529667,g1000:0.9912,esp5400:0.9789,ExAC:0.9800,GnomAD_AC_exome:240765,GnomAD_AN_exome:245836,GnomAD_AC_genome:30372,GnomAD_AN_genome:30982,GnomAD:0.9795;SGVEP=MYT1L|-|NM_001303052|10|c.1104C>A|p.(Pro368:)|synonymous GT:DP:AD:DP4 1/1:165:0,165:0,0,83,82 2 1946770 127551046 TTCC T 117 low_variant_fraction VARTYPE=1;BGN=0.000878683;ARL=212;DER=53;DEA=89;QR=37;QA=111;PBP=69;PBM=53;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs769540818,ExAC:0.0100,GnomAD_AC_exome:2421,GnomAD_AN_exome:118544,GnomAD_AC_genome:611,GnomAD_AN_genome:30744,GnomAD:0.0203;SGVEP=MYT1L|-|NM_001303052|9|c.486_488del|p.(Glu167del)|inframe_3 GT:DP:AD:DP4 0/1:245:232,9:119,113,5,4 2 3653844 128084600 T C 837 off_target VARTYPE=1;BGN=0.00105744;ARL=209;DER=67;DEA=63;QR=37;QA=37;PBP=397;PBM=448;TYPE=SNP;DBXREF=dbSNP:rs3739147,g1000:0.7512,ExAC:0.7000,clinvar:rs3739147,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:106381,GnomAD_AN_exome:140828,GnomAD_AC_genome:21379,GnomAD_AN_genome:30864,GnomAD:0.7441;SGVEP=COLEC11|+|NM_001255982|2|c.130+1784T>C|.|intronic GT:DP:AD:DP4 0/1:61:27,34:13,14,16,18 2 3685046 128093943 T C 181 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=247;DER=59;DEA=33;QR=37;QA=38;PBP=79;PBM=107;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3811528,g1000:0.8520,GnomAD_AC_genome:24766,GnomAD_AN_genome:30886,GnomAD:0.8019;SGVEP=COLEC11|+|NM_001255982|3|c.131-77T>C|.|intronic GT:DP:AD:DP4 0/1:13:6,7:3,3,3,4 2 3685074 128093972 A G 250 off_target VARTYPE=1;BGN=0.000878683;ARL=223;DER=46;DEA=45;QR=33;QA=38;PBP=126;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs3811527,g1000:0.8524,esp5400:0.8129,ExAC:0.7940,GnomAD_AC_exome:194343,GnomAD_AN_exome:245534,GnomAD_AC_genome:24772,GnomAD_AN_genome:30892,GnomAD:0.7927;SGVEP=COLEC11|+|NM_001255982|3|c.131-49A>G|.|intronic GT:DP:AD:DP4 0/1:21:11,10:6,5,5,5 2 9630231 129941511 C T 458 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=232;DEA=44;QA=38;PBP=244;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs6705408,g1000:0.4607,GnomAD_AC_genome:17894,GnomAD_AN_genome:30918,GnomAD:0.5788;SGVEP=ADAM17|-|NM_003183|19|c.*75G>A|.|3'UTR GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 2 9630244 129941540 ATTT ATT 268 low_coverage;off_target VARTYPE=1;BGN=0.016275;ARL=232;DEA=57;QA=38;HL=3;PBP=143;PBM=125;TYPE=INDEL;DBXREF=dbSNP:rs397871862,g1000:0.3912,GnomAD_AC_genome:15803,GnomAD_AN_genome:30882,GnomAD:0.5117;SGVEP=ADAM17|-|NM_003183|19|c.*61del|.|3'UTR GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 2 9631340 129942352 T C 793 off_target VARTYPE=1;BGN=0.000878683;ARL=235;DEA=48;QA=38;PBP=397;PBM=397;TYPE=SNP;DBXREF=dbSNP:rs10495562,g1000:0.2945,esp5400:0.4821,GnomAD_AC_genome:12791,GnomAD_AN_genome:30906,GnomAD:0.4139;SGVEP=ADAM17|-|NM_003183|18|c.2083-60A>G|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,13,13 2 9633137 129942797 T G 1187 off_target VARTYPE=1;BGN=0.00105744;ARL=216;DEA=78;QA=37;PBP=594;PBM=594;TYPE=SNP;DBXREF=dbSNP:rs4622692,g1000:0.4617,esp5400:0.6422,ExAC:0.5040,GnomAD_AC_exome:113177,GnomAD_AN_exome:225004,GnomAD_AC_genome:17935,GnomAD_AN_genome:30916,GnomAD:0.5123;SGVEP=ADAM17|-|NM_003183|17|c.1994-22A>C|.|intronic GT:DP:AD:DP4 1/1:40:0,40:0,0,20,20 2 9634856 129943266 A G 2250 PASS VARTYPE=1;BGN=0.00105744;ARL=214;DEA=82;QA=37;PBP=1128;PBM=1128;TYPE=SNP;DBXREF=dbSNP:rs1048610,g1000:0.4645,esp5400:0.6439,ExAC:0.5120,GnomAD_AC_exome:123156,GnomAD_AN_exome:246182,GnomAD_AC_genome:17949,GnomAD_AN_genome:30900,GnomAD:0.5093;SGVEP=ADAM17|-|NM_003183|15|c.1824T>C|p.(Ser608:)|synonymous GT:DP:AD:DP4 1/1:76:0,76:0,0,38,38 2 9637403 129943826 A G 519 off_target VARTYPE=1;BGN=0.00105744;ARL=228;DER=71;DEA=30;QR=37;QA=37;PBP=221;PBM=306;TYPE=SNP;DBXREF=dbSNP:rs41264175,g1000:0.1006,esp5400:0.1750,ExAC:0.1560,GnomAD_AC_exome:37967,GnomAD_AN_exome:244550,GnomAD_AC_genome:4807,GnomAD_AN_genome:30958,GnomAD:0.1553;SGVEP=ADAM17|-|NM_003183|14|c.1649-26T>C|.|intronic GT:DP:AD:DP4 0/1:38:17,21:9,8,9,12 2 9642478 129944894 C T 772 off_target VARTYPE=1;BGN=0.00105744;ARL=243;DEA=62;QA=37;PBP=357;PBM=416;TYPE=SNP;DBXREF=dbSNP:rs34367192,g1000:0.2913,GnomAD_AC_genome:12807,GnomAD_AN_genome:30866,GnomAD:0.4149;SGVEP=ADAM17|-|NM_003183|13|c.1545-73G>A|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,12,14 2 9642521 129944914 C T 255 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=259;DER=15;DEA=41;QR=36;QA=36;PBP=132;PBM=127;TYPE=SNP;DBXREF=dbSNP:rs13031491,g1000:0.1530,GnomAD_AC_genome:7107,GnomAD_AN_genome:30886,GnomAD:0.2301;SGVEP=ADAM17|-|NM_003183|13|c.1545-116G>A|.|intronic GT:DP:AD:DP4 0/1:15:5,10:2,3,5,5 2 9650350 129948472 C CATAA 366 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=267;DEA=37;QA=150;PBP=183;PBM=183;TYPE=INDEL;DBXREF=dbSNP:rs35431407,g1000:0.3061,GnomAD_AC_genome:12994,GnomAD_AN_genome:30790,GnomAD:0.4220;SGVEP=ADAM17|-|NM_003183|11|c.1192-91_1192-90insTTAT|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 10094992 130097485 A G 459 off_target VARTYPE=1;BGN=0.00127257;ARL=217;DER=41;DEA=32;QR=30;QA=36;PBP=277;PBM=187;TYPE=SNP;DBXREF=dbSNP:rs2303918,g1000:0.5974,ExAC:0.5750,GnomAD_AC_exome:134284,GnomAD_AN_exome:229050,GnomAD_AC_genome:19503,GnomAD_AN_genome:30570,GnomAD:0.5924;SGVEP=GRHL1|+|NM_198182|2|c.21-52A>G|.|intronic GT:DP:AD:DP4 0/1:26:8,18:6,2,11,7 2 10126330 130106210 G A 278 PASS VARTYPE=1;BGN=0.000878683;ARL=210;DER=103;DEA=94;QR=37;QA=38;PBP=131;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs2303920,g1000:0.2628,esp5400:0.2487,ExAC:0.2540,PhyloP:0.9220,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.4900,GnomAD_AC_exome:63575,GnomAD_AN_exome:245510,GnomAD_AC_genome:8449,GnomAD_AN_genome:30834,GnomAD:0.2606;SGVEP=GRHL1|+|NM_198182|9|c.1189G>A|p.(Val397Ile)|missense GT:DP:AD:DP4 0/1:53:40,13:19,21,6,7 2 10130973 130107358 T G 306 off_target VARTYPE=1;BGN=0.00105744;ARL=235;DER=70;DEA=43;QR=38;QA=37;PBP=152;PBM=159;TYPE=SNP;DBXREF=dbSNP:rs12475243,g1000:0.2632,GnomAD_AC_genome:8484,GnomAD_AN_genome:30910,GnomAD:0.2745;SGVEP=GRHL1|+|NM_198182|10|c.1321+98T>G|.|intronic GT:DP:AD:DP4 0/1:20:8,12:5,3,6,6 2 10133284 130108020 C T 638 off_target VARTYPE=1;BGN=0.000878683;ARL=217;DER=54;DEA=61;QR=36;QA=38;PBP=333;PBM=312;TYPE=SNP;DBXREF=dbSNP:rs12618788,g1000:0.2025,esp5400:0.1564,ExAC:0.1890,GnomAD_AC_exome:47856,GnomAD_AN_exome:242124,GnomAD_AC_genome:6264,GnomAD_AN_genome:30934,GnomAD:0.1982;SGVEP=GRHL1|+|NM_198182|12|c.1462-51C>T|.|intronic GT:DP:AD:DP4 0/1:45:20,25:11,9,13,12 2 10140651 130111038 A G 249 off_target VARTYPE=1;BGN=0.00127257;ARL=261;DER=88;DEA=47;QR=38;QA=36;PBP=139;PBM=116;TYPE=SNP;DBXREF=dbSNP:rs2163338,g1000:0.3926,GnomAD_AC_genome:12027,GnomAD_AN_genome:30918,GnomAD:0.3890;SGVEP=GRHL1|+|NM_198182|16|c.1743-70A>G|.|intronic GT:DP:AD:DP4 0/1:26:15,11:8,7,6,5 2 10188649 130126516 A T 2691 PASS VARTYPE=1;BGN=0.00105744;ARL=221;DER=146;DEA=106;QR=11;QA=37;PBP=1424;PBM=1276;TYPE=SNP;DBXREF=dbSNP:rs11687357,g1000:0.8353,esp5400:0.8083,ExAC:0.8340,GnomAD_AC_exome:205428,GnomAD_AN_exome:245476,GnomAD_AC_genome:25828,GnomAD_AN_genome:30926,GnomAD:0.8367;SGVEP=KLF11|+|NM_001177716|3|c.1134A>T|p.(Val378:)|synonymous GT:DP:AD:DP4 1/1:91:0,91:0,0,48,43 2 11817812 130666538 G C 1690 PASS VARTYPE=1;BGN=0.00105744;ARL=209;DEA=87;QA=37;PBP=861;PBM=832;TYPE=SNP;DBXREF=dbSNP:rs4669769,g1000:0.4864,ExAC:0.5620,PhyloP:-0.0820,SIFT:1.0000,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0030,GERP:-0.5130,clinvar:rs4669769,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:74862,GnomAD_AN_exome:123488,GnomAD_AC_genome:17100,GnomAD_AN_genome:30902,GnomAD:0.5956;SGVEP=LPIN1|+|NM_001261428|1|c.39G>C|p.(Glu13Asp)|missense GT:DP:AD:DP4 1/1:57:0,57:0,0,29,28 2 11853988 130687128 A T 247 off_target VARTYPE=1;BGN=0.00127257;ARL=214;DER=79;DEA=41;QR=37;QA=36;PBP=114;PBM=139;TYPE=SNP;DBXREF=dbSNP:rs12465630,g1000:0.3934,ExAC:0.4590,GnomAD_AC_exome:58387,GnomAD_AN_exome:117946,GnomAD_AC_genome:11911,GnomAD_AN_genome:30916,GnomAD:0.4722;SGVEP=LPIN1|+|NM_001261428|2|c.138+50A>T|.|intronic GT:DP:AD:DP4 0/1:27:16,11:8,8,5,6 2 11854012 130687139 G A 334 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=229;DER=43;DEA=75;QR=30;QA=38;PBP=175;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs10182021,g1000:0.1761,GnomAD_AC_genome:4990,GnomAD_AN_genome:30946,GnomAD:0.1612;SGVEP=LPIN1|+|NM_001261428|2|c.138+74G>A|.|intronic GT:DP:AD:DP4 0/1:16:4,12:1,3,6,6 2 11905636 130703126 GTTTTTTTTT GTTTTTTTT 112 off_target VARTYPE=1;BGN=0.116521;ARL=233;DER=53;DEA=80;QR=36;QA=40;HL=9;PBP=63;PBM=56;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs397703256,ExAC:0.5040,GnomAD_AC_exome:118672,GnomAD_AN_exome:226878,GnomAD_AC_genome:17784,GnomAD_AN_genome:30658,GnomAD:0.5299;SGVEP=LPIN1|+|NM_001261427|3|c.10-14del|.|intronic GT:DP:AD:DP4 0/1:50:21,26:12,9,14,12 2 11905876 125641 C T 989 off_target VARTYPE=1;BGN=0.00105744;ARL=217;DER=39;DEA=51;QR=36;QA=37;PBP=490;PBM=506;TYPE=SNP;DBXREF=dbSNP:rs10209969,g1000:0.2047,esp5400:0.2629,ExAC:0.2940,clinvar:rs10209969,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:71501,GnomAD_AN_exome:241540,GnomAD_AC_genome:8181,GnomAD_AN_genome:30834,GnomAD:0.2925;SGVEP=LPIN1|+|NM_001261427|3|c.210+17C>T|.|intronic GT:DP:AD:DP4 0/1:49:12,37:5,7,18,19 2 11924950 130707760 T C 562 off_target VARTYPE=1;BGN=0.00127257;ARL=247;DER=50;DEA=39;QR=36;QA=36;PBP=280;PBM=289;TYPE=SNP;DBXREF=dbSNP:rs3795974,g1000:0.5327,GnomAD_AC_genome:19767,GnomAD_AN_genome:30882,GnomAD:0.6401;SGVEP=LPIN1|+|NM_001261427|10|c.1269-62T>C|.|intronic GT:DP:AD:DP4 0/1:47:23,24:13,10,12,12 2 11932173 130709404 G T 310 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=246;DER=46;DEA=46;QR=36;QA=37;PBP=155;PBM=159;TYPE=SNP;DBXREF=dbSNP:rs7561070,g1000:0.5369,esp5400:0.6958,ExAC:0.5480,clinvar:rs7561070,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:127428,GnomAD_AN_exome:236128,GnomAD_AC_genome:20361,GnomAD_AN_genome:30884,GnomAD:0.5535;SGVEP=LPIN1|+|NM_001261427|13|c.1716+41G>T|.|intronic GT:DP:AD:DP4 0/1:19:7,12:4,3,6,6 2 11944746 130712462 TGGGGG TGGGG 157 off_target VARTYPE=1;BGN=0.0242414;ARL=260;DER=55;DEA=58;QR=36;QA=35;HL=5;PBP=68;PBM=95;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs111652164,g1000:0.2346,ExAC:0.1930,GnomAD_AC_exome:46229,GnomAD_AN_exome:244482,GnomAD_AC_genome:7294,GnomAD_AN_genome:30868,GnomAD:0.1944;SGVEP=LPIN1|+|NM_001261427|16|c.2072+54del|.|intronic GT:DP:AD:DP4 0/1:26:12,14:6,6,6,8 2 15326834 131707085 T C 282 off_target VARTYPE=1;BGN=0.00105744;ARL=217;DER=63;DEA=71;QR=37;QA=37;PBP=170;PBM=118;TYPE=SNP;DBXREF=dbSNP:rs2302940,g1000:0.0867,esp5400:0.0691,ExAC:0.0830,GnomAD_AC_exome:20615,GnomAD_AN_exome:245990,GnomAD_AC_genome:2216,GnomAD_AN_genome:30958,GnomAD:0.0824;SGVEP=NBAS|-|NM_015909|50|c.6711+32A>G|.|intronic GT:DP:AD:DP4 0/1:28:16,12:8,8,7,5 2 15372562 131717482 C T 554 PASS VARTYPE=1;BGN=0.00105744;ARL=217;DER=92;DEA=75;QR=37;QA=37;PBP=282;PBM=280;TYPE=SNP;DBXREF=dbSNP:rs6710817,g1000:0.1068,esp5400:0.0899,ExAC:0.0840,PhyloP:0.7320,SIFT:0.4250,PolyPhen2:0.1290,PolyPhen2_HumDiv:0.8270,LRT:0.9870,MutationTaster:0.0040,GERP:3.8600,GnomAD_AC_exome:20631,GnomAD_AN_exome:246058,GnomAD_AC_genome:2786,GnomAD_AN_genome:30950,GnomAD:0.0845;SGVEP=NBAS|-|NM_015909|47|c.6220G>A|p.(Ala2074Thr)|missense GT:DP:AD:DP4 0/1:57:33,24:16,17,12,12 2 15378822 131719135 G GAATT 859 off_target VARTYPE=1;BGN=0.000878683;ARL=228;DER=8;DEA=62;QR=32;QA=147;PBP=407;PBM=458;TYPE=INDEL;DBXREF=dbSNP:rs140225141,g1000:0.9834,ExAC:0.9760,GnomAD_AC_exome:235293,GnomAD_AN_exome:240568,GnomAD_AC_genome:30536,GnomAD_AN_genome:30956,GnomAD:0.9790;SGVEP=NBAS|-|NM_015909|45|c.5725-13_5725-12insAATT|.|intronic GT:DP:AD:DP4 1/1:35:5,30:2,3,14,16 2 15416907 131742981 T C 141 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=250;DER=62;DEA=72;QR=38;QA=38;PBP=72;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs73197007,g1000:0.0389,GnomAD_AC_genome:1346,GnomAD_AN_genome:30964,GnomAD:0.0435;SGVEP=NBAS|-|NM_015909|43|c.5389+68A>G|.|intronic GT:DP:AD:DP4 0/1:18:12,6:6,6,3,3 2 15448311 131748814 A T 398 off_target VARTYPE=1;BGN=0.00127257;ARL=224;DER=45;DEA=72;QR=38;QA=36;PBP=217;PBM=188;TYPE=SNP;DBXREF=dbSNP:rs1318102,g1000:0.6683,esp5400:0.5433,ExAC:0.5230,GnomAD_AC_exome:127279,GnomAD_AN_exome:245980,GnomAD_AC_genome:16733,GnomAD_AN_genome:30918,GnomAD:0.5201;SGVEP=NBAS|-|NM_015909|40|c.4797+29T>A|.|intronic GT:DP:AD:DP4 0/1:34:17,17:8,9,9,8 2 15493881 131770870 A G 483 off_target VARTYPE=1;BGN=0.00153147;ARL=256;DER=64;DEA=57;QR=38;QA=35;PBP=232;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs2277915,g1000:0.3746,esp5400:0.5363,ExAC:0.5540,GnomAD_AC_exome:135888,GnomAD_AN_exome:242480,GnomAD_AC_genome:15619,GnomAD_AN_genome:30928,GnomAD:0.5541;SGVEP=NBAS|-|NM_015909|34|c.3932-47T>C|.|intronic GT:DP:AD:DP4 0/1:39:18,21:9,9,10,11 2 15519992 131772390 G T 703 off_target VARTYPE=1;BGN=0.00105744;ARL=247;DER=44;DEA=49;QR=36;QA=37;PBP=330;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs2058866,g1000:0.5174,esp5400:0.6411,ExAC:0.6010,GnomAD_AC_exome:146099,GnomAD_AN_exome:241484,GnomAD_AC_genome:18537,GnomAD_AN_genome:30872,GnomAD:0.6045;SGVEP=NBAS|-|NM_015909|30|c.3361-37C>A|.|intronic GT:DP:AD:DP4 0/1:47:19,28:9,10,13,15 2 15523266 131772549 A T 250 off_target VARTYPE=1;BGN=0.00105744;ARL=242;DER=65;DEA=20;QR=38;QA=37;PBP=139;PBM=116;TYPE=SNP;DBXREF=dbSNP:rs6756934,g1000:0.9820,GnomAD_AC_genome:29547,GnomAD_AN_genome:30952,GnomAD:0.9546;SGVEP=NBAS|-|NM_015909|29|c.3360+73T>A|.|intronic GT:DP:AD:DP4 0/1:30:19,11:10,9,6,5 2 15601441 131786103 C T 806 PASS VARTYPE=1;BGN=0.00105744;ARL=205;DER=85;DEA=53;QR=36;QA=37;PBP=406;PBM=409;TYPE=SNP;DBXREF=dbSNP:rs7590340,g1000:0.5236,esp5400:0.6485,ExAC:0.6050,GnomAD_AC_exome:148816,GnomAD_AN_exome:246090,GnomAD_AC_genome:18652,GnomAD_AN_genome:30828,GnomAD:0.6048;SGVEP=NBAS|-|NM_015909|21|c.2223G>A|p.(Leu741:)|synonymous GT:DP:AD:DP4 0/1:71:37,34:19,18,17,17 2 15607842 131813408 T C 286 PASS VARTYPE=1;BGN=0.00105744;ARL=208;DER=89;DEA=73;QR=37;QA=37;PBP=145;PBM=148;TYPE=SNP;DBXREF=dbSNP:rs4668909,g1000:0.3606,esp5400:0.5224,ExAC:0.5470,PhyloP:-0.3700,SIFT:0.6960,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:-1.2600,GnomAD_AC_exome:135871,GnomAD_AN_exome:244540,GnomAD_AC_genome:15233,GnomAD_AN_genome:30902,GnomAD:0.5486;SGVEP=NBAS|-|NM_015909|18|c.1964A>G|p.(Lys655Arg)|missense GT:DP:AD:DP4 0/1:58:44,14:23,21,7,7 2 15614404 131815143 T C 1181 PASS VARTYPE=1;BGN=0.000878683;ARL=227;DER=60;DEA=68;QR=35;QA=38;PBP=579;PBM=613;TYPE=SNP;DBXREF=dbSNP:rs13014906,g1000:0.5194,esp5400:0.6437,ExAC:0.6020,GnomAD_AC_exome:147860,GnomAD_AN_exome:245366,GnomAD_AC_genome:18582,GnomAD_AN_genome:30896,GnomAD:0.6025;SGVEP=NBAS|-|NM_015909|15|c.1386A>G|p.(Arg462:)|synonymous GT:DP:AD:DP4 0/1:87:40,47:21,19,23,24 2 15615910 131815599 A G 296 PASS VARTYPE=1;BGN=0.00127257;ARL=224;DER=105;DEA=99;QR=35;QA=36;PBP=152;PBM=150;TYPE=SNP;DBXREF=dbSNP:rs1990754,g1000:0.4928,esp5400:0.6348,ExAC:0.5910,GnomAD_AC_exome:145319,GnomAD_AN_exome:246036,GnomAD_AC_genome:18123,GnomAD_AN_genome:30880,GnomAD:0.5902;SGVEP=NBAS|-|NM_015909|14|c.1242T>C|p.(Ser414:)|synonymous GT:DP:AD:DP4 0/1:43:29,14:14,15,7,7 2 15618339 131816178 G A 146 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=203;DER=69;DEA=58;QR=35;QA=38;PBP=104;PBM=48;SP=2;TYPE=SNP;DBXREF=dbSNP:rs1125534,g1000:0.5276,esp5400:0.6514,ExAC:0.6030,GnomAD_AC_exome:147486,GnomAD_AN_exome:244276,GnomAD_AC_genome:18765,GnomAD_AN_genome:30914,GnomAD:0.6041;SGVEP=NBAS|-|NM_015909|13|c.1147+11C>T|.|intronic GT:DP:AD:DP4 0/1:15:9,6:4,5,4,2 2 15644401 131820529 C T 407 off_target VARTYPE=1;BGN=0.000878683;ARL=208;DER=38;DEA=48;QR=37;QA=38;PBP=178;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs2287265,g1000:0.5160,esp5400:0.5977,GnomAD_AC_genome:17476,GnomAD_AN_genome:30878,GnomAD:0.5660;SGVEP=NBAS|-|NM_015909|11|c.886-64G>A|.|intronic GT:DP:AD:DP4 0/1:30:14,16:7,7,7,9 2 15674686 131825505 T C 229 PASS VARTYPE=1;BGN=0.000878683;ARL=202;DER=87;DEA=106;QR=38;QA=38;PBP=116;PBM=118;TYPE=SNP;DBXREF=dbSNP:rs13029846,g1000:0.3892,esp5400:0.5483,ExAC:0.5550,PhyloP:-0.7490,SIFT:0.2960,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0010,LRT:0.9930,MutationTaster:0.0540,GERP:-4.2900,GnomAD_AC_exome:138165,GnomAD_AN_exome:246162,GnomAD_AC_genome:15865,GnomAD_AN_genome:30894,GnomAD:0.5560;SGVEP=NBAS|-|NM_015909|9|c.727A>G|p.(Ile243Val)|missense GT:DP:AD:DP4 0/1:31:21,10:11,10,5,5 2 15676686 131841879 G A 493 off_target VARTYPE=1;BGN=0.000878683;ARL=217;DER=76;DEA=46;QR=37;QA=38;PBP=250;PBM=250;TYPE=SNP;DBXREF=dbSNP:rs10208972,g1000:0.5383,esp5400:0.6651,ExAC:0.6070,GnomAD_AC_exome:139662,GnomAD_AN_exome:229898,GnomAD_AC_genome:18866,GnomAD_AN_genome:30504,GnomAD:0.6088;SGVEP=NBAS|-|NM_015909|8|c.514-11C>T|.|intronic GT:DP:AD:DP4 0/1:42:22,20:11,11,10,10 2 15694164 131843368 T TA 449 off_target VARTYPE=1;BGN=0.00105744;ARL=215;DER=41;DEA=79;QR=36;QA=37;PBP=228;PBM=228;TYPE=INDEL;DBXREF=dbSNP:rs34789730,g1000:0.5385,ExAC:0.6060,GnomAD_AC_exome:148110,GnomAD_AN_exome:244510,GnomAD_AC_genome:19079,GnomAD_AN_genome:30882,GnomAD:0.6071;SGVEP=NBAS|-|NM_015909|4|c.287+20_287+21insT|.|intronic GT:DP:AD:DP4 0/1:54:33,20:16,17,10,10 2 20131184 125688 C A 1069 off_target VARTYPE=1;BGN=0.00105744;ARL=230;DEA=57;QA=37;PBP=476;PBM=594;TYPE=SNP;DBXREF=dbSNP:rs1191779,g1000:0.9649,esp5400:0.9660,ExAC:0.9880,clinvar:rs1191779,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:243207,GnomAD_AN_exome:245696,GnomAD_AC_genome:30071,GnomAD_AN_genome:30942,GnomAD:0.9879;SGVEP=WDR35|-|NM_001006657|25|c.2857-14G>T|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,16,20 2 20131987 132996603 T C 200 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=256;DER=50;DEA=58;QR=38;QA=37;PBP=101;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs4294960,g1000:0.2294,GnomAD_AC_genome:7980,GnomAD_AN_genome:30870,GnomAD:0.2585;SGVEP=WDR35|-|NM_001006657|24|c.2856+57A>G|.|intronic GT:DP:AD:DP4 0/1:15:7,8:4,3,4,4 2 20133346 132996934 C T 247 off_target VARTYPE=1;BGN=0.000878683;ARL=257;DER=48;DEA=86;QR=37;QA=38;PBP=101;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs2293670,g1000:0.1192,GnomAD_AC_genome:2704,GnomAD_AN_genome:30944,GnomAD:0.0874;SGVEP=WDR35|-|NM_001006657|23|c.2581-74G>A|.|intronic GT:DP:AD:DP4 0/1:22:12,10:5,7,4,6 2 20135283 132997138 T C 1218 PASS VARTYPE=1;BGN=0.000878683;ARL=205;DEA=85;QA=38;PBP=610;PBM=610;TYPE=SNP;DBXREF=dbSNP:rs6741091,g1000:0.5108,esp5400:0.4342,ExAC:0.4730,clinvar:rs6741091,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:116086,GnomAD_AN_exome:245362,GnomAD_AC_genome:14058,GnomAD_AN_genome:30832,GnomAD:0.4712;SGVEP=WDR35|-|NM_001006657|22|c.2529A>G|p.(Glu843:)|synonymous GT:DP:AD:DP4 1/1:40:0,40:0,0,20,20 2 20160250 133000531 G C 131 low_coverage;off_target VARTYPE=1;BGN=0.00266922;ARL=262;DER=79;DEA=20;QR=35;QA=32;PBP=91;PBM=44;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12996974,g1000:0.2290,esp5400:0.2473,GnomAD_AC_genome:7982,GnomAD_AN_genome:30858,GnomAD:0.2587;SGVEP=WDR35|-|NM_001006657|12|c.1288+65C>G|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,4,2 2 20173255 133005639 A C 1011 off_target VARTYPE=1;BGN=0.00127257;ARL=244;DEA=37;QA=36;PBP=521;PBM=492;TYPE=SNP;DBXREF=dbSNP:rs10153717,g1000:0.7314,GnomAD_AC_genome:20340,GnomAD_AN_genome:30866,GnomAD:0.6590;SGVEP=WDR35|-|NM_001006657|8|c.882+69T>G|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,18,17 2 20175312 133006381 G A 535 PASS VARTYPE=1;BGN=0.00105744;ARL=229;DER=85;DEA=43;QR=36;QA=37;PBP=284;PBM=258;TYPE=SNP;DBXREF=dbSNP:rs34169020,g1000:0.0637,esp5400:0.0319,ExAC:0.0420,clinvar:rs34169020,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:10695,GnomAD_AN_exome:245268,GnomAD_AC_genome:1206,GnomAD_AN_genome:30952,GnomAD:0.0431;SGVEP=WDR35|-|NM_001006657|6|c.549C>T|p.(Tyr183:)|synonymous GT:DP:AD:DP4 0/1:53:30,23:15,15,12,11 2 20189089 133009841 C T 787 off_target VARTYPE=1;BGN=0.00153147;ARL=248;DEA=53;QA=35;PBP=394;PBM=394;TYPE=SNP;DBXREF=dbSNP:rs3731663,g1000:0.6216,esp5400:0.5747,ExAC:0.5470,clinvar:rs3731663,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:132938,GnomAD_AN_exome:245982,GnomAD_AC_genome:17550,GnomAD_AN_genome:30896,GnomAD:0.5435;SGVEP=WDR35|-|NM_001006657|2|c.25-46G>A|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,14,14 2 20192931 133010696 G A 767 PASS VARTYPE=1;BGN=0.000878683;ARL=203;DER=70;DEA=76;QR=37;QA=38;PBP=389;PBM=385;TYPE=SNP;DBXREF=dbSNP:rs35973216,g1000:0.2278,esp5400:0.2471,ExAC:0.2490,clinvar:rs35973216,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:60873,GnomAD_AN_exome:242542,GnomAD_AC_genome:7894,GnomAD_AN_genome:30892,GnomAD:0.2515;SGVEP=MATN3|-|NM_002381|8|c.1406-4C>T|.|intronic GT:DP:AD:DP4 0/1:53:23,30:11,12,15,15 2 20194036 133010873 G C 2515 off_target VARTYPE=1;BGN=0.00105744;ARL=217;DER=121;DEA=42;QR=38;QA=37;PBP=1276;PBM=1246;TYPE=SNP;DBXREF=dbSNP:rs3820949,g1000:0.5094,esp5400:0.4250,ExAC:0.4610,clinvar:rs3820949,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:107598,GnomAD_AN_exome:227572,GnomAD_AC_genome:13992,GnomAD_AN_genome:30930,GnomAD:0.4704;SGVEP=MATN3|-|NM_002381|7|c.1405+24C>G|.|intronic GT:DP:AD:DP4 1/1:85:0,85:0,0,43,42 2 20205423 133013639 A AAAAG 210 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=236;DEA=42;QA=150;PBP=107;PBM=107;TYPE=INDEL;DBXREF=dbSNP:rs5829721,g1000:0.5701,GnomAD_AC_genome:15325,GnomAD_AN_genome:30744,GnomAD:0.4985;SGVEP=MATN3|-|NM_002381|2|c.790+81_790+82insCTTT|.|intronic GT:DP:AD:DP4 0/1:14:0,8:0,0,4,4 2 20205680 125714 C T 2248 PASS VARTYPE=1;BGN=0.00127257;ARL=221;DEA=97;QA=36;PBP=1155;PBM=1098;TYPE=SNP;DBXREF=dbSNP:rs28401180,g1000:0.5244,esp5400:0.4356,ExAC:0.4710,clinvar:rs28401180,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:114951,GnomAD_AN_exome:242920,GnomAD_AC_genome:14415,GnomAD_AN_genome:30886,GnomAD:0.4725;SGVEP=MATN3|-|NM_002381|2|c.615G>A|p.(Glu205:)|synonymous GT:DP:AD:DP4 1/1:78:0,78:0,0,40,38 2 20205848 125717 G A 3044 PASS VARTYPE=1;BGN=0.00105744;ARL=216;DEA=100;QA=37;PBP=1453;PBM=1601;TYPE=SNP;DBXREF=dbSNP:rs28598872,g1000:0.5248,esp5400:0.4417,ExAC:0.4750,clinvar:rs28598872,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:116778,GnomAD_AN_exome:246032,GnomAD_AC_genome:14477,GnomAD_AN_genome:30866,GnomAD:0.4740;SGVEP=MATN3|-|NM_002381|2|c.447C>T|p.(Ala149:)|synonymous GT:DP:AD:DP4 1/1:103:0,103:0,0,49,54 2 21225281 125728 C T 1394 PASS VARTYPE=1;BGN=0.00105744;ARL=244;DEA=119;QA=37;PBP=713;PBM=683;TYPE=SNP;DBXREF=dbSNP:rs1042034,g1000:0.6296,esp5400:0.8019,ExAC:0.7030,PhyloP:-0.1240,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.3350,MutationTaster:0.0000,GERP:1.6100,clinvar:rs1042034,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:167501,GnomAD_AN_exome:237412,GnomAD_AC_genome:23650,GnomAD_AN_genome:30926,GnomAD:0.7124;SGVEP=APOB|-|NM_000384|29|c.13013G>A|p.(Ser4338Asn)|missense GT:DP:AD:DP4 1/1:47:0,47:0,0,24,23 2 21225753 125732 C T 1141 PASS VARTYPE=1;BGN=0.00105744;ARL=219;DER=87;DEA=101;QR=36;QA=37;PBP=612;PBM=540;TYPE=SNP;DBXREF=dbSNP:rs1042031,g1000:0.1278,esp5400:0.1667,ExAC:0.1530,PhyloP:-0.2600,SIFT:0.7410,PolyPhen2:0.0090,PolyPhen2_HumDiv:0.0120,LRT:0.7530,MutationTaster:0.0000,GERP:0.1470,clinvar:rs1042031,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:37588,GnomAD_AN_exome:244770,GnomAD_AC_genome:5243,GnomAD_AN_genome:30880,GnomAD:0.1554;SGVEP=APOB|-|NM_000384|29|c.12541G>A|p.(Glu4181Lys)|missense GT:DP:AD:DP4 0/1:108:59,49:31,28,26,23 2 21227383 133277729 C G 1084 off_target VARTYPE=1;BGN=0.00105744;ARL=239;DER=108;DEA=98;QR=37;QA=37;PBP=547;PBM=547;TYPE=SNP;DBXREF=dbSNP:rs1800479,g1000:0.1244,esp5400:0.1675,ExAC:0.1550,GnomAD_AC_exome:38567,GnomAD_AN_exome:245870,GnomAD_AC_genome:5188,GnomAD_AN_genome:30920,GnomAD:0.1581;SGVEP=APOB|-|NM_000384|27|c.11903+50G>C|.|intronic GT:DP:AD:DP4 0/1:78:34,44:17,17,22,22 2 21232803 133283253 T C 1690 PASS VARTYPE=1;BGN=0.00105744;ARL=222;DEA=97;QA=37;PBP=861;PBM=832;TYPE=SNP;DBXREF=dbSNP:rs584542,g1000:0.9862,esp5400:0.9809,ExAC:0.9950,PhyloP:-1.3440,SIFT:0.3740,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0020,LRT:0.8690,MutationTaster:0.0000,GERP:-3.8000,GnomAD_AC_exome:244891,GnomAD_AN_exome:245900,GnomAD_AC_genome:30480,GnomAD_AN_genome:30968,GnomAD:0.9946;SGVEP=APOB|-|NM_000384|26|c.6937A>G|p.(Ile2313Val)|missense GT:DP:AD:DP4 1/1:57:0,57:0,0,29,28 2 21235475 133285630 T C 1246 PASS VARTYPE=1;BGN=0.00105744;ARL=231;DEA=81;QA=37;PBP=594;PBM=654;TYPE=SNP;DBXREF=dbSNP:rs568413,g1000:1.0000,esp5400:0.9996,ExAC:1.0000,PhyloP:0.1250,SIFT:0.1480,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9390,MutationTaster:0.0000,GERP:1.9300,GnomAD_AC_exome:245616,GnomAD_AN_exome:245656,GnomAD_AC_genome:30977,GnomAD_AN_genome:30986,GnomAD:0.9998;SGVEP=APOB|-|NM_000384|26|c.4265A>G|p.(Tyr1422Cys)|missense GT:DP:AD:DP4 1/1:42:0,42:0,0,20,22 2 21236482 133286263 A G 896 off_target VARTYPE=1;BGN=0.00127257;ARL=235;DER=11;DEA=38;QR=12;QA=36;PBP=434;PBM=463;TYPE=SNP;DBXREF=dbSNP:rs488329,g1000:0.9910,GnomAD_AC_genome:30652,GnomAD_AN_genome:30970,GnomAD:0.9897;SGVEP=APOB|-|NM_000384|25|c.3843-77T>C|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,15,16 2 21245813 133290011 G A 993 PASS VARTYPE=1;BGN=0.00105744;ARL=217;DER=97;DEA=91;QR=37;QA=37;PBP=475;PBM=528;TYPE=SNP;DBXREF=dbSNP:rs1801700,g1000:0.0162,esp5400:0.0365,ExAC:0.0340,clinvar:rs1801700,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:8786,GnomAD_AN_exome:246172,GnomAD_AC_genome:1171,GnomAD_AN_genome:30966,GnomAD:0.0359;SGVEP=APOB|-|NM_000384|18|c.2706C>T|p.(Asn902:)|synonymous GT:DP:AD:DP4 0/1:111:67,44:34,33,21,23 2 21246306 133290239 G C 196 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=253;DER=37;DEA=27;QR=37;QA=38;PBP=99;PBM=101;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12714102,g1000:0.2005,GnomAD_AC_genome:5484,GnomAD_AN_genome:30932,GnomAD:0.1773;SGVEP=APOB|-|NM_000384|17|c.2604+91C>G|.|intronic GT:DP:AD:DP4 0/1:19:11,8:6,5,4,4 2 21250914 125800 G A 344 PASS VARTYPE=1;BGN=0.000878683;ARL=229;DER=65;DEA=66;QR=36;QA=38;PBP=163;PBM=187;TYPE=SNP;DBXREF=dbSNP:rs679899,g1000:0.4850,esp5400:0.3664,ExAC:0.4850,PhyloP:2.8820,SIFT:0.9950,PolyPhen2:0.9980,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.7300,clinvar:rs679899,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:120631,GnomAD_AN_exome:246064,GnomAD_AC_genome:12949,GnomAD_AN_genome:30904,GnomAD:0.4823;SGVEP=APOB|-|NM_000384|14|c.1853C>T|p.(Ala618Val)|missense GT:DP:AD:DP4 0/1:44:29,15:14,15,7,8 2 21255573 133294848 C CCATCT 245 off_target VARTYPE=1;BGN=0.000878683;ARL=268;DER=10;DEA=45;QR=35;QA=181;PBP=126;PBM=124;TYPE=INDEL;DBXREF=dbSNP:rs10701091,g1000:0.8750,GnomAD_AC_genome:27084,GnomAD_AN_genome:30730,GnomAD:0.8814;SGVEP=APOB|-|NM_000384|10|c.1125-121_1125-120insAGATG|.|intronic GT:DP:AD:DP4 0/1:23:13,10:6,7,5,5 2 21266751 133298618 CCAG C 110 low_variant_fraction VARTYPE=1;BGN=0.000878683;ARL=213;DER=97;DEA=94;QR=35;QA=112;PBP=65;PBM=50;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs773844839,ExAC:0.0057,GnomAD_AC_exome:700,GnomAD_AN_exome:72410,GnomAD_AC_genome:2,GnomAD_AN_genome:29866,GnomAD:0.0069;SGVEP=APOB|-|NM_000384|1|c.64_66del|p.(Leu22del)|inframe_3 GT:DP:AD:DP4 0/1:294:281,9:143,138,5,4 2 24426438 134012890 C G 767 off_target VARTYPE=1;BGN=0.00105744;ARL=249;DER=48;DEA=49;QR=36;QA=37;PBP=428;PBM=346;TYPE=SNP;DBXREF=dbSNP:rs112277321,g1000:0.0210,GnomAD_AC_genome:1223,GnomAD_AN_genome:30970,GnomAD:0.0395;SGVEP=ITSN2|-|NM_001348181|41|c.*57G>C|.|3'UTR GT:DP:AD:DP4 0/1:55:24,31:12,12,17,14 2 24431184 134014271 C T 705 PASS VARTYPE=1;BGN=0.00127257;ARL=223;DER=97;DEA=87;QR=36;QA=36;PBP=372;PBM=341;TYPE=SNP;DBXREF=dbSNP:rs2303291,g1000:0.1390,esp5400:0.1810,ExAC:0.1960,PhyloP:2.3970,SIFT:0.8420,PolyPhen2:0.9960,PolyPhen2_HumDiv:1.0000,LRT:0.9990,MutationTaster:1.0000,GERP:4.8600,GnomAD_AC_exome:48381,GnomAD_AN_exome:244808,GnomAD_AC_genome:5414,GnomAD_AN_genome:30802,GnomAD:0.1952;SGVEP=ITSN2|-|NM_001348181|38|c.4558G>A|p.(Ala1520Thr)|missense GT:DP:AD:DP4 0/1:67:36,31:17,19,16,15 2 24432138 134014623 C T 495 off_target VARTYPE=1;BGN=0.00127257;ARL=236;DER=45;DEA=61;QR=36;QA=36;PBP=216;PBM=287;TYPE=SNP;DBXREF=dbSNP:rs2303292,g1000:0.1406,esp5400:0.1850,ExAC:0.1950,GnomAD_AC_exome:44944,GnomAD_AN_exome:206106,GnomAD_AC_genome:5517,GnomAD_AN_genome:30882,GnomAD:0.2129;SGVEP=ITSN2|-|NM_001348181|37|c.4432-48G>A|.|intronic GT:DP:AD:DP4 0/1:63:40,23:19,21,10,13 2 24432211 134014652 C T 434 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=258;DEA=18;QA=36;PBP=203;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs2303293,g1000:0.8568,GnomAD_AC_genome:26539,GnomAD_AN_genome:30914,GnomAD:0.8585;SGVEP=ITSN2|-|NM_001348181|37|c.4432-121G>A|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,7,8 2 24432620 134014718 A G 122 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=266;DER=53;DEA=92;QR=37;QA=38;PBP=49;PBM=76;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2303294,g1000:0.6769,GnomAD_AC_genome:19956,GnomAD_AN_genome:30886,GnomAD:0.6461;SGVEP=ITSN2|-|NM_001348181|36|c.4431+67T>C|.|intronic GT:DP:AD:DP4 0/1:13:8,5:4,4,2,3 2 24432667 134014752 C G 732 off_target VARTYPE=1;BGN=0.000878683;ARL=248;DEA=77;QA=38;PBP=366;PBM=366;TYPE=SNP;DBXREF=dbSNP:rs2303295,g1000:0.8596,esp5400:0.8390,ExAC:0.8980,GnomAD_AC_exome:222371,GnomAD_AN_exome:246122,GnomAD_AC_genome:26585,GnomAD_AN_genome:30938,GnomAD:0.8986;SGVEP=ITSN2|-|NM_001348181|36|c.4431+20G>C|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 2 24432839 134014853 A G 356 PASS VARTYPE=1;BGN=0.00105744;ARL=230;DER=107;DEA=111;QR=37;QA=37;PBP=181;PBM=181;TYPE=SNP;DBXREF=dbSNP:rs2303296,g1000:0.1412,esp5400:0.1852,ExAC:0.1990,GnomAD_AC_exome:49266,GnomAD_AN_exome:246270,GnomAD_AC_genome:5536,GnomAD_AN_genome:30922,GnomAD:0.1977;SGVEP=ITSN2|-|NM_001348181|36|c.4279T>C|p.(Leu1427:)|synonymous GT:DP:AD:DP4 0/1:46:30,16:15,15,8,8 2 24432937 134014925 C T 230 off_target VARTYPE=1;BGN=0.00105744;ARL=242;DER=56;DEA=62;QR=35;QA=37;PBP=120;PBM=116;TYPE=SNP;DBXREF=dbSNP:rs2303297,g1000:0.1408,esp5400:0.1853,ExAC:0.1980,GnomAD_AC_exome:48016,GnomAD_AN_exome:240810,GnomAD_AC_genome:5530,GnomAD_AN_genome:30890,GnomAD:0.1971;SGVEP=ITSN2|-|NM_001348181|36|c.4216-35G>A|.|intronic GT:DP:AD:DP4 0/1:26:16,10:7,9,5,5 2 24433595 134015027 G C 367 off_target VARTYPE=1;BGN=0.00127257;ARL=216;DER=32;DEA=35;QR=35;QA=36;PBP=224;PBM=150;TYPE=SNP;DBXREF=dbSNP:rs147548718,g1000:0.0032,GnomAD_AC_genome:192,GnomAD_AN_genome:30912,GnomAD:0.0062;SGVEP=ITSN2|-|NM_001348181|35|c.4215+54C>G|.|intronic GT:DP:AD:DP4 0/1:47:30,17:15,15,10,7 2 24440997 134016963 A T 683 off_target VARTYPE=1;BGN=0.00184304;ARL=281;DEA=31;QA=34;PBP=355;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs2551183,g1000:0.9690,GnomAD_AC_genome:30268,GnomAD_AN_genome:30986,GnomAD:0.9768;SGVEP=ITSN2|-|NM_001348181|32|c.3658-115T>A|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,13,12 2 24475205 134023880 T C 1335 off_target VARTYPE=1;BGN=0.00105744;ARL=219;DEA=39;QA=37;PBP=683;PBM=654;TYPE=SNP;DBXREF=dbSNP:rs4450560,g1000:0.9982,esp5400:0.9984,ExAC:0.9980,GnomAD_AC_exome:240719,GnomAD_AN_exome:241048,GnomAD_AC_genome:30928,GnomAD_AN_genome:30962,GnomAD:0.9987;SGVEP=ITSN2|-|NM_001348181|26|c.3078+9A>G|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,23,22 2 24483979 134025790 C G 389 PASS VARTYPE=1;BGN=0.00105744;ARL=219;DER=61;DEA=48;QR=37;QA=37;PBP=173;PBM=223;TYPE=SNP;DBXREF=dbSNP:rs41281485,g1000:0.0028,esp5400:0.0069,ExAC:0.0054,PhyloP:2.5690,SIFT:0.9930,PolyPhen2:0.9980,PolyPhen2_HumDiv:0.9990,LRT:0.9990,MutationTaster:1.0000,GERP:5.1200,GnomAD_AC_exome:1331,GnomAD_AN_exome:244792,GnomAD_AC_genome:164,GnomAD_AN_genome:30978,GnomAD:0.0054;SGVEP=ITSN2|-|NM_001348181|23|c.2636G>C|p.(Gly879Ala)|missense GT:DP:AD:DP4 0/1:58:40,18:20,20,8,10 2 24484150 134025909 T C 1542 off_target VARTYPE=1;BGN=0.00105744;ARL=230;DEA=59;QA=37;PBP=772;PBM=772;TYPE=SNP;DBXREF=dbSNP:rs4665680,g1000:0.9708,esp5400:0.9761,ExAC:0.9780,GnomAD_AC_exome:222755,GnomAD_AN_exome:227256,GnomAD_AC_genome:30365,GnomAD_AN_genome:30978,GnomAD:0.9802;SGVEP=ITSN2|-|NM_001348181|23|c.2496-31A>G|.|intronic GT:DP:AD:DP4 1/1:52:0,52:0,0,26,26 2 24521493 134032833 C T 920 off_target VARTYPE=1;BGN=0.00105744;ARL=218;DEA=36;QA=37;PBP=535;PBM=386;TYPE=SNP;DBXREF=dbSNP:rs7559133,g1000:0.9732,esp5400:0.9766,ExAC:0.9790,GnomAD_AC_exome:215559,GnomAD_AN_exome:219868,GnomAD_AC_genome:30359,GnomAD_AN_genome:30924,GnomAD:0.9806;SGVEP=ITSN2|-|NM_001348181|14|c.1452+41G>A|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,18,13 2 24524958 134033579 C T 1047 PASS VARTYPE=1;BGN=0.00105744;ARL=219;DER=58;DEA=76;QR=36;QA=37;PBP=516;PBM=540;TYPE=SNP;DBXREF=dbSNP:rs7603997,g1000:0.2921,esp5400:0.3647,ExAC:0.3050,PhyloP:0.3380,SIFT:0.0000,PolyPhen2:0.5960,PolyPhen2_HumDiv:0.9480,LRT:0.9990,MutationTaster:0.0000,GERP:2.1100,GnomAD_AC_exome:71349,GnomAD_AN_exome:239362,GnomAD_AC_genome:10380,GnomAD_AN_genome:30916,GnomAD:0.3024;SGVEP=ITSN2|-|NM_001348181|11|c.829G>A|p.(Val277Ile)|missense GT:DP:AD:DP4 0/1:80:37,43:18,19,21,22 2 24896389 134102174 T G 337 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=230;DER=21;DEA=68;QR=38;QA=37;PBP=170;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs4665712,g1000:0.5833,GnomAD_AC_genome:17206,GnomAD_AN_genome:30830,GnomAD:0.5581;SGVEP=NCOA1|+|NM_003743|5|c.354+57T>G|.|intronic GT:DP:AD:DP4 1/1:14:2,12:1,1,6,6 2 24905927 134103853 G C 494 PASS VARTYPE=1;BGN=0.00105744;ARL=226;DER=102;DEA=96;QR=37;QA=37;PBP=226;PBM=275;TYPE=SNP;DBXREF=dbSNP:rs11125744,g1000:0.8065,esp5400:0.7806,ExAC:0.8690,GnomAD_AC_exome:212956,GnomAD_AN_exome:241956,GnomAD_AC_genome:25224,GnomAD_AN_genome:30910,GnomAD:0.8729;SGVEP=NCOA1|+|NM_003743|6|c.462G>C|p.(Thr154:)|synonymous GT:DP:AD:DP4 0/1:59:37,22:18,19,10,12 2 24952740 134113621 C CT 205 off_target VARTYPE=1;BGN=0.00105744;ARL=192;DER=55;DEA=38;QR=37;QA=37;PBP=94;PBM=116;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs11439247,g1000:0.9069,GnomAD_AC_genome:27696,GnomAD_AN_genome:30444,GnomAD:0.9097;SGVEP=NCOA1|+|NM_003743|15|c.3201+56_3201+57insT|.|intronic GT:DP:AD:DP4 0/1:25:15,9:6,9,4,5 2 24974945 134118450 T G 541 PASS VARTYPE=1;BGN=0.00105744;ARL=234;DER=90;DEA=95;QR=38;QA=37;PBP=273;PBM=275;TYPE=SNP;DBXREF=dbSNP:rs11125763,g1000:0.8361,esp5400:0.8144,ExAC:0.8780,GnomAD_AC_exome:218780,GnomAD_AN_exome:246180,GnomAD_AC_genome:26114,GnomAD_AN_genome:30926,GnomAD:0.8838;SGVEP=NCOA1|+|NM_003743|18|c.3801T>G|p.(Leu1267:)|synonymous GT:DP:AD:DP4 0/1:63:39,24:20,19,12,12 2 25046090 134137363 T C 1051 PASS VARTYPE=1;BGN=0.00105744;ARL=219;DER=69;DEA=57;QR=37;QA=37;PBP=526;PBM=535;TYPE=SNP;DBXREF=dbSNP:rs1127568,g1000:0.6913,esp5400:0.6244,ExAC:0.6800,GnomAD_AC_exome:170193,GnomAD_AN_exome:245282,GnomAD_AC_genome:19752,GnomAD_AN_genome:30910,GnomAD:0.6877;SGVEP=ADCY3|-|NM_001320613|18|c.2874A>G|p.(Ser958:)|synonymous GT:DP:AD:DP4 0/1:110:64,46:34,30,23,23 2 25047408 134137507 A G 884 PASS VARTYPE=1;BGN=0.00105744;ARL=226;DER=65;DEA=61;QR=36;QA=37;PBP=464;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs7604576,g1000:0.5216,esp5400:0.4466,ExAC:0.5370,GnomAD_AC_exome:135598,GnomAD_AN_exome:246016,GnomAD_AC_genome:14580,GnomAD_AN_genome:30912,GnomAD:0.5423;SGVEP=ADCY3|-|NM_001320613|17|c.2581-3T>C|.|intronic GT:DP:AD:DP4 0/1:57:22,35:10,12,18,17 2 25048847 134140305 A G 299 off_target VARTYPE=1;BGN=0.00105744;ARL=225;DER=59;DEA=20;QR=38;QA=37;PBP=152;PBM=152;TYPE=SNP;DBXREF=dbSNP:rs2289090,g1000:0.6597,GnomAD_AC_genome:18744,GnomAD_AN_genome:30870,GnomAD:0.6072;SGVEP=ADCY3|-|NM_001320613|16|c.2580+67T>C|.|intronic GT:DP:AD:DP4 0/1:22:10,12:5,5,6,6 2 25050977 134141352 T C 1129 PASS VARTYPE=1;BGN=0.00105744;ARL=224;DER=84;DEA=72;QR=36;QA=37;PBP=583;PBM=557;TYPE=SNP;DBXREF=dbSNP:rs7566416,g1000:0.6595,esp5400:0.5896,ExAC:0.6710,GnomAD_AC_exome:168293,GnomAD_AN_exome:245188,GnomAD_AC_genome:18758,GnomAD_AN_genome:30878,GnomAD:0.6776;SGVEP=ADCY3|-|NM_001320613|14|c.2226A>G|p.(Glu742:)|synonymous GT:DP:AD:DP4 0/1:113:62,49:31,31,25,24 2 25051042 695444119 G C 436 off_target VARTYPE=1;BGN=0.00105744;ARL=245;DER=68;DEA=50;QR=36;QA=37;PBP=211;PBM=232;TYPE=SNP;DBXREF=GnomAD_AC_exome:1,GnomAD_AN_exome:243240,GnomAD:0.0000;SGVEP=ADCY3|-|NM_001320613|14|c.2173-12C>G|.|intronic GT:DP:AD:DP4 0/1:47:28,19:13,15,9,10 2 25057263 134143564 G A 318 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=191;DEA=34;QA=36;PBP=232;PBM=87;TYPE=SNP;DBXREF=dbSNP:rs2278485,g1000:0.4121,GnomAD_AC_genome:12475,GnomAD_AN_genome:30718,GnomAD:0.4061;SGVEP=ADCY3|-|NM_001320613|11|c.1967+91C>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,8,3 2 25061270 134144952 GGGGTGGGGT G 305 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=264;DER=43;DEA=121;QR=31;QA=332;PBP=189;PBM=122;TYPE=INDEL;DBXREF=dbSNP:rs869139011,g1000:0.2105,GnomAD_AC_exome:38567,GnomAD_AN_exome:143912,GnomAD_AC_genome:5386,GnomAD_AN_genome:26032,GnomAD:0.2586;SGVEP=ADCY3|-|NM_001320613|8|c.1533+35_1533+43del|.|intronic GT:DP:AD:DP4 0/1:15:4,11:4,0,7,4 2 25062634 134145620 A G 463 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=234;DEA=37;QA=36;PBP=260;PBM=203;TYPE=SNP;DBXREF=dbSNP:rs11125810,g1000:0.8301,GnomAD_AC_genome:25935,GnomAD_AN_genome:30838,GnomAD:0.8410;SGVEP=ADCY3|-|NM_001320613|7|c.1355+108T>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,9,7 2 25064079 134146228 G A 168 off_target VARTYPE=1;BGN=0.00127257;ARL=228;DER=40;DEA=85;QR=36;QA=36;PBP=86;PBM=87;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2241757,g1000:0.3718,esp5400:0.2578,ExAC:0.2380,GnomAD_AC_exome:56854,GnomAD_AN_exome:135548,GnomAD_AC_genome:9469,GnomAD_AN_genome:30736,GnomAD:0.3989;SGVEP=ADCY3|-|NM_001320613|6|c.1196+49C>T|.|intronic GT:DP:AD:DP4 0/1:27:19,8:10,9,4,4 2 25064193 134146311 G A 774 PASS VARTYPE=1;BGN=0.00105744;ARL=208;DER=94;DEA=97;QR=37;QA=37;PBP=389;PBM=394;TYPE=SNP;DBXREF=dbSNP:rs2241759,g1000:0.5106,esp5400:0.4417,ExAC:0.4780,GnomAD_AC_exome:105369,GnomAD_AN_exome:206432,GnomAD_AC_genome:14554,GnomAD_AN_genome:30838,GnomAD:0.5054;SGVEP=ADCY3|-|NM_001320613|6|c.1131C>T|p.(Pro377:)|synonymous GT:DP:AD:DP4 0/1:84:50,34:26,24,17,17 2 25141538 134168019 A G 1387 PASS VARTYPE=1;BGN=0.00127257;ARL=238;DER=110;DEA=118;QR=36;QA=36;PBP=660;PBM=739;TYPE=SNP;DBXREF=dbSNP:rs11676272,g1000:0.5669,esp5400:0.5984,ExAC:0.4790,PhyloP:0.0990,SIFT:0.7710,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9670,MutationTaster:0.0000,GERP:2.9400,GnomAD_AC_exome:114628,GnomAD_AN_exome:246142,GnomAD_AC_genome:17325,GnomAD_AN_genome:30854,GnomAD:0.4764;SGVEP=ADCY3|-|NM_001320613|2|c.319T>C|p.(Ser107Pro)|missense GT:DP:AD:DP4 0/1:128:67,61:34,33,29,32 2 25458546 134230841 C T 1673 off_target VARTYPE=1;BGN=0.000878683;ARL=242;DEA=69;QA=38;PBP=854;PBM=823;TYPE=SNP;DBXREF=dbSNP:rs2304429,g1000:0.3608,esp5400:0.4515,ExAC:0.5100,GnomAD_AC_exome:125650,GnomAD_AN_exome:243882,GnomAD_AC_genome:14046,GnomAD_AN_genome:30914,GnomAD:0.5084;SGVEP=DNMT3A|-|NM_001320893|17|c.2141+30G>A|.|intronic GT:DP:AD:DP4 1/1:55:0,55:0,0,28,27 2 25463483 134232127 G A 556 off_target VARTYPE=1;BGN=0.00127257;ARL=223;DER=49;DEA=81;QR=37;QA=36;PBP=306;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs2289195,g1000:0.3590,esp5400:0.4018,ExAC:0.4060,GnomAD_AC_exome:100736,GnomAD_AN_exome:244616,GnomAD_AC_genome:12811,GnomAD_AN_genome:30896,GnomAD:0.4121;SGVEP=DNMT3A|-|NM_001320893|13|c.1717+26C>T|.|intronic GT:DP:AD:DP4 0/1:49:25,24:13,12,13,11 2 25466888 134232925 G T 1069 off_target VARTYPE=1;BGN=0.00127257;ARL=219;DEA=81;QA=36;PBP=549;PBM=521;TYPE=SNP;DBXREF=dbSNP:rs2289093,g1000:0.6002,esp5400:0.6782,ExAC:0.6570,GnomAD_AC_exome:114537,GnomAD_AN_exome:162984,GnomAD_AC_genome:21233,GnomAD_AN_genome:30840,GnomAD:0.7005;SGVEP=DNMT3A|-|NM_001320893|11|c.1396-37C>A|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,19,18 2 25469913 134234242 C T 10000 off_target VARTYPE=1;BGN=0.00105744;ARL=225;DER=67;DEA=76;QR=38;QA=37;PBP=2191;PBM=2132;TYPE=SNP;DBXREF=dbSNP:rs2276599,g1000:0.6140,esp5400:0.6846,ExAC:0.7070,GnomAD_AC_exome:173338,GnomAD_AN_exome:243026,GnomAD_AC_genome:21635,GnomAD_AN_genome:30880,GnomAD:0.7118;SGVEP=DNMT3A|-|NM_001320893|4|c.666+7G>A|.|intronic GT:DP:AD:DP4 1/1:146:0,146:0,0,74,72 2 26417533 134421294 C A 562 off_target VARTYPE=1;BGN=0.00105744;ARL=211;DER=63;DEA=56;QR=37;QA=37;PBP=284;PBM=284;TYPE=SNP;DBXREF=dbSNP:rs1865324,g1000:0.8518,esp5400:0.8306,ExAC:0.7940,GnomAD_AC_exome:193712,GnomAD_AN_exome:245372,GnomAD_AC_genome:25316,GnomAD_AN_genome:30914,GnomAD:0.7928;SGVEP=HADHA|-|NM_000182|16|c.1621-26G>T|.|intronic GT:DP:AD:DP4 0/1:54:30,24:15,15,12,12 2 26420708 134421931 T G 510 off_target VARTYPE=1;BGN=0.00105744;ARL=251;DER=75;DEA=37;QR=36;QA=37;PBP=269;PBM=248;TYPE=SNP;DBXREF=dbSNP:rs13387855,g1000:0.8528,GnomAD_AC_genome:25313,GnomAD_AN_genome:30924,GnomAD:0.8186;SGVEP=HADHA|-|NM_000182|14|c.1393-62A>C|.|intronic GT:DP:AD:DP4 0/1:41:20,21:11,9,11,10 2 26454996 134424164 A G 590 off_target VARTYPE=1;BGN=0.00105744;ARL=223;DER=21;DEA=69;QR=36;QA=37;PBP=282;PBM=314;TYPE=SNP;DBXREF=dbSNP:rs7593175,g1000:0.4581,esp5400:0.6497,ExAC:0.5960,GnomAD_AC_exome:144157,GnomAD_AN_exome:245898,GnomAD_AC_genome:18622,GnomAD_AN_genome:30894,GnomAD:0.5881;SGVEP=HADHA|-|NM_000182|6|c.573+32T>C|.|intronic GT:DP:AD:DP4 0/1:36:13,23:7,6,11,12 2 26455002 134424167 C G 292 off_target VARTYPE=1;BGN=0.00153147;ARL=219;DER=69;DEA=27;QR=37;QA=35;PBP=150;PBM=148;TYPE=SNP;DBXREF=dbSNP:rs35746418,g1000:0.1472,esp5400:0.1696,ExAC:0.2050,GnomAD_AC_exome:51804,GnomAD_AN_exome:245910,GnomAD_AC_genome:5611,GnomAD_AN_genome:30918,GnomAD:0.2074;SGVEP=HADHA|-|NM_000182|6|c.573+26G>C|.|intronic GT:DP:AD:DP4 0/1:39:25,14:12,13,7,7 2 26455127 125866 G A 631 PASS VARTYPE=1;BGN=0.000878683;ARL=213;DER=63;DEA=78;QR=38;QA=38;PBP=336;PBM=303;TYPE=SNP;DBXREF=dbSNP:rs11552518,g1000:0.1424,esp5400:0.1637,ExAC:0.2030,clinvar:rs11552518,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:51463,GnomAD_AN_exome:245960,GnomAD_AC_genome:5446,GnomAD_AN_genome:30914,GnomAD:0.2055;SGVEP=HADHA|-|NM_000182|6|c.474C>T|p.(Tyr158:)|synonymous GT:DP:AD:DP4 0/1:70:43,27:20,23,14,13 2 26457267 134424384 T G 858 off_target VARTYPE=1;BGN=0.00105744;ARL=244;DER=44;DEA=62;QR=37;QA=37;PBP=433;PBM=433;TYPE=SNP;DBXREF=dbSNP:rs3892649,g1000:0.1414,esp5400:0.1626,ExAC:0.2030,GnomAD_AC_exome:51169,GnomAD_AN_exome:243832,GnomAD_AC_genome:5403,GnomAD_AN_genome:30960,GnomAD:0.2059;SGVEP=HADHA|-|NM_000182|5|c.315-44A>C|.|intronic GT:DP:AD:DP4 1/1:42:10,32:5,5,16,16 2 26461733 134424904 C G 411 off_target VARTYPE=1;BGN=0.00127257;ARL=243;DER=64;DEA=57;QR=36;QA=36;PBP=220;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs2303892,g1000:0.1426,GnomAD_AC_genome:5466,GnomAD_AN_genome:30936,GnomAD:0.1767;SGVEP=HADHA|-|NM_000182|3|c.180+69G>C|.|intronic GT:DP:AD:DP4 0/1:30:13,17:7,6,9,8 2 26462093 134425057 A T 146 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=293;DER=86;DEA=65;QR=38;QA=37;PBP=76;PBM=74;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12987980,g1000:0.1424,GnomAD_AC_genome:5447,GnomAD_AN_genome:30950,GnomAD:0.1760;SGVEP=HADHA|-|NM_000182|2|c.68-82T>A|.|intronic GT:DP:AD:DP4 0/1:13:7,6:3,4,3,3 2 26467347 134425835 C A 768 off_target VARTYPE=1;BGN=0.00105744;ARL=256;DER=110;DEA=79;QR=33;QA=37;PBP=427;PBM=347;TYPE=SNP;DBXREF=dbSNP:rs62128457,g1000:0.1472,esp5400:0.1235,ExAC:0.1180,GnomAD_AC_exome:31814,GnomAD_AN_exome:147646,GnomAD_AC_genome:5613,GnomAD_AN_genome:30920,GnomAD:0.2096;SGVEP=HADHA|-|NM_000182|1|c.67+51G>T|.|intronic GT:DP:AD:DP4 0/1:40:11,29:6,5,16,13 2 26501953 134432777 C A 403 off_target VARTYPE=1;BGN=0.00105744;ARL=269;DER=57;DEA=58;QR=35;QA=37;PBP=192;PBM=218;TYPE=SNP;DBXREF=dbSNP:rs7604564,g1000:0.1773,esp5400:0.1973,ExAC:0.2140,GnomAD_AC_exome:53296,GnomAD_AN_exome:244426,GnomAD_AC_genome:6353,GnomAD_AN_genome:30908,GnomAD:0.2166;SGVEP=HADHB|+|NM_000183|9|c.631-50C>A|.|intronic GT:DP:AD:DP4 0/1:37:20,17:10,10,8,9 2 26502875 134433077 T C 1298 PASS VARTYPE=1;BGN=0.00105744;ARL=201;DER=53;DEA=49;QR=37;QA=37;PBP=684;PBM=625;TYPE=SNP;DBXREF=dbSNP:rs1056389,g1000:0.1456,esp5400:0.1665,ExAC:0.2050,clinvar:rs1056389,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:51884,GnomAD_AN_exome:245984,GnomAD_AC_genome:5525,GnomAD_AN_genome:30912,GnomAD:0.2073;SGVEP=HADHB|+|NM_000183|10|c.825T>C|p.(Val275:)|synonymous GT:DP:AD:DP4 0/1:87:35,52:17,18,27,25 2 26505858 125892 A G 656 off_target VARTYPE=1;BGN=0.000878683;ARL=231;DER=86;DEA=74;QR=38;QA=38;PBP=334;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs17528590,g1000:0.1450,esp5400:0.1654,ExAC:0.2050,clinvar:rs17528590,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:51783,GnomAD_AN_exome:246120,GnomAD_AC_genome:5489,GnomAD_AN_genome:30900,GnomAD:0.2067;SGVEP=HADHB|+|NM_000183|12|c.1014-14A>G|.|intronic GT:DP:AD:DP4 0/1:33:9,24:4,5,12,12 2 26507724 134434209 T C 208 off_target VARTYPE=1;BGN=0.00153147;ARL=209;DER=45;DEA=60;QR=36;QA=35;PBP=104;PBM=110;TYPE=SNP;DBXREF=dbSNP:rs17528653,g1000:0.1452,esp5400:0.1652,ExAC:0.2050,GnomAD_AC_exome:51862,GnomAD_AN_exome:246160,GnomAD_AC_genome:5497,GnomAD_AN_genome:30916,GnomAD:0.2070;SGVEP=HADHB|+|NM_000183|14|c.1150-27T>C|.|intronic GT:DP:AD:DP4 0/1:29:19,10:11,8,5,5 2 26508187 134434343 A G 314 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=255;DER=37;DEA=40;QR=33;QA=37;PBP=187;PBM=131;TYPE=SNP;DBXREF=dbSNP:rs2303894,g1000:0.1462,GnomAD_AC_genome:5563,GnomAD_AN_genome:30964,GnomAD:0.1797;SGVEP=HADHB|+|NM_000183|15|c.1225-88A>G|.|intronic GT:DP:AD:DP4 0/1:18:6,12:3,3,7,5 2 26512733 134435226 T G 292 off_target VARTYPE=1;BGN=0.000878683;ARL=221;DER=50;DEA=66;QR=38;QA=38;PBP=176;PBM=122;TYPE=SNP;DBXREF=dbSNP:rs1056632,g1000:0.1474,esp5400:0.1880,GnomAD_AC_genome:5606,GnomAD_AN_genome:30934,GnomAD:0.1812;SGVEP=HADHB|+|NM_000183|16|c.1390-53T>G|.|intronic GT:DP:AD:DP4 0/1:28:16,12:8,8,7,5 2 26698682 134488614 G T 160 low_coverage;off_target VARTYPE=1;BGN=0.00266922;ARL=271;DER=75;DEA=48;QR=38;QA=32;PBP=102;PBM=62;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6712188,g1000:0.4960,GnomAD_AC_genome:12501,GnomAD_AN_genome:30698,GnomAD:0.4072;SGVEP=OTOF|-|NM_001287489|24|c.2991+100C>A|.|intronic GT:DP:AD:DP4 0/1:18:10,8:6,4,5,3 2 26699126 126092 C G 981 PASS VARTYPE=1;BGN=0.00153147;ARL=228;DER=90;DEA=112;QR=36;QA=35;PBP=457;PBM=534;TYPE=SNP;DBXREF=dbSNP:rs4335905,g1000:0.7079,esp5400:0.5313,ExAC:0.5590,clinvar:rs4335905,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:134523,GnomAD_AN_exome:236982,GnomAD_AC_genome:17860,GnomAD_AN_genome:30708,GnomAD:0.5693;SGVEP=OTOF|-|NM_001287489|23|c.2736G>C|p.(Leu912:)|synonymous GT:DP:AD:DP4 0/1:98:53,45:27,26,21,24 2 26699855 126102 G C 653 PASS VARTYPE=1;BGN=0.00184304;ARL=219;DER=104;DEA=104;QR=33;QA=34;PBP=377;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs2272069,g1000:0.5016,esp5400:0.3421,ExAC:0.4570,clinvar:rs2272069,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:115311,GnomAD_AN_exome:243606,GnomAD_AC_genome:12647,GnomAD_AN_genome:30664,GnomAD:0.4665;SGVEP=OTOF|-|NM_001287489|22|c.2580C>G|p.(Val860:)|synonymous GT:DP:AD:DP4 0/1:68:37,31:24,13,18,13 2 26700700 126135 G A 861 PASS VARTYPE=1;BGN=0.00105744;ARL=231;DER=87;DEA=64;QR=36;QA=37;PBP=370;PBM=499;TYPE=SNP;DBXREF=dbSNP:rs4665855,g1000:0.6026,esp5400:0.4128,ExAC:0.4720,PhyloP:-0.1120,SIFT:1.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-0.5720,clinvar:rs4665855,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:98941,GnomAD_AN_exome:188948,GnomAD_AC_genome:14956,GnomAD_AN_genome:30860,GnomAD:0.5182;SGVEP=OTOF|-|NM_194322|1|c.62C>T|p.(Pro21Leu)|missense GT:DP:AD:DP4 0/1:63:28,35:13,15,15,20 2 26702057 134491547 GTT GT 211 off_target VARTYPE=1;BGN=0.0131144;ARL=232;DER=41;DEA=48;QR=33;QA=36;HL=2;PBP=129;PBM=97;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs10714255,g1000:0.5407,GnomAD_AC_genome:13762,GnomAD_AN_genome:30822,GnomAD:0.4465;SGVEP=OTOF|-|NM_001287489|18|c.2214+74del|.|intronic GT:DP:AD:DP4 0/1:33:14,16:7,7,9,7 2 26724725 134500670 T G 481 off_target VARTYPE=1;BGN=0.00127257;ARL=215;DER=31;DEA=43;QR=34;QA=36;PBP=232;PBM=255;TYPE=SNP;DBXREF=dbSNP:rs6547079,g1000:0.7003,esp5400:0.6292,ExAC:0.6140,GnomAD_AC_exome:149294,GnomAD_AN_exome:245538,GnomAD_AC_genome:20624,GnomAD_AN_genome:30874,GnomAD:0.6147;SGVEP=OTOF|-|NM_001287489|8|c.711-49A>C|.|intronic GT:DP:AD:DP4 0/1:28:9,19:4,5,9,10 2 26726752 134501418 G A 431 off_target VARTYPE=1;BGN=0.00127257;ARL=228;DER=68;DEA=54;QR=36;QA=36;PBP=208;PBM=229;TYPE=SNP;DBXREF=dbSNP:rs884390,g1000:0.2997,esp5400:0.2968,ExAC:0.3700,GnomAD_AC_exome:91919,GnomAD_AN_exome:245574,GnomAD_AC_genome:10144,GnomAD_AN_genome:30866,GnomAD:0.3692;SGVEP=OTOF|-|NM_001287489|6|c.510-39C>T|.|intronic GT:DP:AD:DP4 0/1:43:24,19:11,13,9,10 2 26739247 134504819 T A 298 off_target VARTYPE=1;BGN=0.00184304;ARL=234;DER=76;DEA=47;QR=36;QA=34;PBP=175;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs7575020,g1000:0.4517,esp5400:0.5431,ExAC:0.5170,GnomAD_AC_exome:123100,GnomAD_AN_exome:237222,GnomAD_AC_genome:14951,GnomAD_AN_genome:30832,GnomAD:0.5150;SGVEP=OTOF|-|NM_001287489|5|c.509+39A>T|.|intronic GT:DP:AD:DP4 0/1:31:17,14:9,8,8,6 2 26739526 134505180 A G 326 off_target VARTYPE=1;BGN=0.00127257;ARL=253;DER=62;DEA=56;QR=37;QA=36;PBP=144;PBM=188;TYPE=SNP;DBXREF=dbSNP:rs55682147,g1000:0.1350,GnomAD_AC_genome:2841,GnomAD_AN_genome:30912,GnomAD:0.0919;SGVEP=OTOF|-|NM_001287489|5|c.328-59T>C|.|intronic GT:DP:AD:DP4 0/1:29:15,14:6,9,6,8 2 26741961 126228 G A 794 PASS VARTYPE=1;BGN=0.00105744;ARL=216;DER=79;DEA=48;QR=38;QA=37;PBP=377;PBM=426;TYPE=SNP;DBXREF=dbSNP:rs13031859,g1000:0.2700,esp5400:0.3652,ExAC:0.3820,PhyloP:0.2530,SIFT:0.9250,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0020,LRT:1.0000,MutationTaster:1.0000,GERP:1.2000,clinvar:rs13031859,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:91836,GnomAD_AN_exome:226334,GnomAD_AC_genome:10272,GnomAD_AN_genome:30896,GnomAD:0.3970;SGVEP=OTOF|-|NM_001287489|4|c.244C>T|p.(Arg82Cys)|missense GT:DP:AD:DP4 0/1:101:65,36:32,33,17,19 2 26750645 134508091 G A 723 off_target VARTYPE=1;BGN=0.00127257;ARL=234;DEA=59;QA=36;PBP=405;PBM=318;TYPE=SNP;DBXREF=dbSNP:rs1879760,g1000:0.6404,esp5400:0.7177,GnomAD_AC_genome:20462,GnomAD_AN_genome:30852,GnomAD:0.6632;SGVEP=OTOF|-|NM_001287489|3|c.227+55C>T|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,14,11 2 26781247 134521181 G C 156 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=272;DER=41;DEA=68;QR=33;QA=36;PBP=91;PBM=69;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4665880,g1000:0.2973,GnomAD_AC_genome:9827,GnomAD_AN_genome:30726,GnomAD:0.3198;SGVEP=OTOF|-|NM_001287489|1|c.79+114C>G|.|intronic GT:DP:AD:DP4 0/1:19:12,7:7,5,4,3 2 26951449 134568426 G A 2277 off_target VARTYPE=1;BGN=0.00127257;ARL=231;DEA=63;QA=36;PBP=1040;PBM=1242;TYPE=SNP;DBXREF=dbSNP:rs1663002,g1000:0.9627,esp5400:0.9684,ExAC:0.9860,clinvar:rs1663002,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:60963,GnomAD_AN_exome:61386,GnomAD_AC_genome:29943,GnomAD_AN_genome:30864,GnomAD:0.9854;SGVEP=KCNK3|+|NM_002246|2|c.*13G>A|.|3'UTR GT:DP:AD:DP4 1/1:79:0,79:0,0,36,43 2 27315252 134651738 G A 1431 PASS VARTYPE=1;BGN=0.00105744;ARL=212;DER=102;DEA=106;QR=36;QA=37;PBP=731;PBM=712;TYPE=SNP;DBXREF=dbSNP:rs2304681,g1000:0.3315,esp5400:0.3548,ExAC:0.3770,PhyloP:0.7010,SIFT:0.9350,PolyPhen2:0.1450,PolyPhen2_HumDiv:0.5230,LRT:1.0000,MutationTaster:0.9940,GERP:2.7100,clinvar:rs2304681,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:94868,GnomAD_AN_exome:245626,GnomAD_AC_genome:11149,GnomAD_AN_genome:30894,GnomAD:0.3834;SGVEP=KHK|+|NM_000221|2|c.145G>A|p.(Val49Ile)|missense GT:DP:AD:DP4 0/1:152:89,63:46,43,32,31 2 27535311 134714973 TGG TGGG 445 off_target VARTYPE=1;BGN=0.0131144;ARL=247;DER=23;DEA=68;QR=31;QA=35;HL=2;PBP=243;PBM=206;TYPE=INDEL;DBXREF=dbSNP:rs397984156,g1000:1.0000,ExAC:1.0000,GnomAD_AC_exome:246178,GnomAD_AN_exome:246180,GnomAD_AC_genome:30938,GnomAD_AN_genome:30938,GnomAD:1.0000;SGVEP=MPV17|-|NM_002437|5|c.375+49dupC|.|intronic GT:DP:AD:DP4 1/1:30:1,26:1,0,14,12 2 27589544 134725913 GT GTTT 671 off_target VARTYPE=1;BGN=0.000878683;ARL=272;DER=52;DEA=69;QR=38;QA=71;PBP=336;PBM=336;TYPE=INDEL;DBXREF=dbSNP:rs140057104,g1000:0.0721,GnomAD_AC_genome:2135,GnomAD_AN_genome:30924,GnomAD:0.0690;SGVEP=EIF2B4|-|NM_001034116|11|c.1191+81_1191+82insAA|.|intronic GT:DP:AD:DP4 0/1:22:10,12:5,5,6,6 2 27609212 134734106 T C 234 off_target VARTYPE=1;BGN=0.00127257;ARL=244;DER=40;DEA=53;QR=37;QA=36;PBP=121;PBM=118;TYPE=SNP;DBXREF=dbSNP:rs62130724,g1000:0.0112,GnomAD_AC_genome:787,GnomAD_AN_genome:30950,GnomAD:0.0254;SGVEP=PPM1G|-|NM_177983|3|c.191-66A>G|.|intronic GT:DP:AD:DP4 0/1:21:11,10:5,6,5,5 2 27712408 134757079 C T 496 off_target VARTYPE=1;BGN=0.00105744;ARL=239;DER=79;DEA=68;QR=36;QA=37;PBP=266;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs7583698,g1000:0.0647,esp5400:0.0761,GnomAD_AC_genome:2218,GnomAD_AN_genome:30956,GnomAD:0.0717;SGVEP=IFT172|-|NM_015662|1|c.39+74G>A|.|intronic GT:DP:AD:DP4 0/1:46:25,21:12,13,11,10 2 27720385 134759748 C T 845 off_target VARTYPE=1;BGN=0.00105744;ARL=227;DER=120;DEA=87;QR=33;QA=37;PBP=417;PBM=436;TYPE=SNP;DBXREF=dbSNP:rs8179205,g1000:0.0621,esp5400:0.0787,ExAC:0.0550,GnomAD_AC_exome:12706,GnomAD_AN_exome:246170,GnomAD_AC_genome:2156,GnomAD_AN_genome:30954,GnomAD:0.0536;SGVEP=GCKR|+|NM_001486|3|c.217-44C>T|.|intronic GT:DP:AD:DP4 0/1:51:18,33:8,10,16,17 2 27730817 134764365 G A 165 off_target VARTYPE=1;BGN=0.000878683;ARL=199;DER=50;DEA=78;QR=37;QA=38;PBP=99;PBM=71;SP=0;TYPE=SNP;DBXREF=dbSNP:rs8179219,g1000:0.0497,esp5400:0.0666,ExAC:0.0510,GnomAD_AC_exome:11849,GnomAD_AN_exome:245106,GnomAD_AC_genome:1829,GnomAD_AN_genome:30920,GnomAD:0.0496;SGVEP=GCKR|+|NM_001486|15|c.1241-27G>A|.|intronic GT:DP:AD:DP4 0/1:20:13,7:6,7,4,3 2 27730940 126334 T C 228 PASS VARTYPE=1;BGN=0.00105744;ARL=225;DER=51;DEA=133;QR=34;QA=37;PBP=118;PBM=116;TYPE=SNP;DBXREF=dbSNP:rs1260326,g1000:0.7067,esp5400:0.6788,ExAC:0.6420,PhyloP:0.4090,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9610,MutationTaster:0.7330,GERP:2.9500,clinvar:rs1260326,CLNSIG:association,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:155774,GnomAD_AN_exome:245962,GnomAD_AC_genome:20842,GnomAD_AN_genome:30840,GnomAD:0.6381;SGVEP=GCKR|+|NM_001486|15|c.1337T>C|p.(Leu446Pro)|missense GT:DP:AD:DP4 0/1:27:17,10:8,9,5,5 2 29293837 126346 C T 417 PASS VARTYPE=1;BGN=0.00105744;ARL=221;DER=69;DEA=52;QR=34;QA=37;PBP=284;PBM=139;TYPE=SNP;DBXREF=dbSNP:rs183536545,g1000:0.0048,esp5400:0.0106,ExAC:0.0110,clinvar:rs183536545,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:2818,GnomAD_AN_exome:245590,GnomAD_AC_genome:349,GnomAD_AN_genome:30628,GnomAD:0.0115;SGVEP=PCARE|-|NM_001029883|1|c.3291G>A|p.(Gln1097:)|synonymous GT:DP:AD:DP4 0/1:43:25,18:15,10,12,6 2 29294239 135101706 G A 1774 PASS VARTYPE=1;BGN=0.00127257;ARL=231;DER=108;DEA=104;QR=36;QA=36;PBP=925;PBM=863;TYPE=SNP;DBXREF=dbSNP:rs144569618,g1000:0.0313,esp5400:0.0182,ExAC:0.0410,clinvar:rs144569618,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:11954,GnomAD_AN_exome:245666,GnomAD_AC_genome:681,GnomAD_AN_genome:30950,GnomAD:0.0457;SGVEP=PCARE|-|NM_001029883|1|c.2889C>T|p.(Ser963:)|synonymous GT:DP:AD:DP4 0/1:143:67,76:32,35,39,37 2 29416025 135146647 C CATTG 178 off_target VARTYPE=1;BGN=0.000878683;ARL=241;DER=55;DEA=41;QR=34;QA=138;PBP=90;PBM=94;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs397706189,g1000:0.3972,clinvar:rs397706189,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:8025,GnomAD_AN_genome:30840,GnomAD:0.2602;SGVEP=ALK|-|NM_004304|29|c.*61_*64dup|.|3'UTR GT:DP:AD:DP4 0/1:29:20,8:11,9,4,4 2 29416366 126384 G C 1690 PASS VARTYPE=1;BGN=0.00105744;ARL=236;DEA=100;QA=37;PBP=802;PBM=891;TYPE=SNP;DBXREF=dbSNP:rs1881421,g1000:0.5729,esp5400:0.4330,ExAC:0.4600,PhyloP:-1.4640,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9400,MutationTaster:0.0000,GERP:-3.4200,clinvar:rs1881421,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:115007,GnomAD_AN_exome:245880,GnomAD_AC_genome:14854,GnomAD_AN_genome:30892,GnomAD:0.4692;SGVEP=ALK|-|NM_004304|29|c.4587C>G|p.(Asp1529Glu)|missense GT:DP:AD:DP4 1/1:57:0,57:0,0,27,30 2 29416481 126388 T C 911 PASS VARTYPE=1;BGN=0.00105744;ARL=213;DER=87;DEA=103;QR=36;QA=37;PBP=501;PBM=420;TYPE=SNP;DBXREF=dbSNP:rs1881420,g1000:0.4151,esp5400:0.2233,ExAC:0.3320,PhyloP:0.0890,SIFT:0.6900,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0000,LRT:0.9980,MutationTaster:0.0530,GERP:1.9000,clinvar:rs1881420,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:84463,GnomAD_AN_exome:246178,GnomAD_AC_genome:8462,GnomAD_AN_genome:30916,GnomAD:0.3354;SGVEP=ALK|-|NM_004304|29|c.4472A>G|p.(Lys1491Arg)|missense GT:DP:AD:DP4 0/1:86:47,39:23,24,21,18 2 29416572 126391 T C 2750 PASS VARTYPE=1;BGN=0.00105744;ARL=202;DER=76;DEA=95;QR=11;QA=37;PBP=1335;PBM=1424;TYPE=SNP;DBXREF=dbSNP:rs1670283,g1000:0.9922,esp5400:0.9890,ExAC:0.9970,PhyloP:-0.2480,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.3420,MutationTaster:0.0000,GERP:-0.1340,clinvar:rs1670283,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:244651,GnomAD_AN_exome:245250,GnomAD_AC_genome:30664,GnomAD_AN_genome:30952,GnomAD:0.9968;SGVEP=ALK|-|NM_004304|29|c.4381A>G|p.(Ile1461Val)|missense GT:DP:AD:DP4 1/1:93:0,93:0,0,45,48 2 29416615 135147462 G A 462 PASS VARTYPE=1;BGN=0.00127257;ARL=216;DER=107;DEA=88;QR=35;QA=36;PBP=210;PBM=260;TYPE=SNP;DBXREF=dbSNP:rs56132472,g1000:0.0591,esp5400:0.1016,ExAC:0.0910,clinvar:rs56132472,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:21918,GnomAD_AN_exome:234410,GnomAD_AC_genome:3525,GnomAD_AN_genome:30938,GnomAD:0.0959;SGVEP=ALK|-|NM_004304|29|c.4338C>T|p.(Thr1446:)|synonymous GT:DP:AD:DP4 0/1:67:45,22:23,22,10,12 2 29416794 135147674 G A 200 off_target VARTYPE=1;BGN=0.000878683;ARL=225;DER=63;DEA=79;QR=36;QA=38;PBP=92;PBM=113;SP=0;TYPE=SNP;DBXREF=dbSNP:rs17007646,g1000:0.1609,esp5400:0.2014,ExAC:0.1290,clinvar:rs17007646,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:30504,GnomAD_AN_exome:243842,GnomAD_AC_genome:6387,GnomAD_AN_genome:30952,GnomAD:0.1342;SGVEP=ALK|-|NM_004304|29|c.4165-6C>T|.|intronic GT:DP:AD:DP4 0/1:32:23,9:10,13,4,5 2 29420315 135148813 C T 385 off_target VARTYPE=1;BGN=0.00105744;ARL=273;DER=30;DEA=77;QR=31;QA=37;PBP=203;PBM=187;TYPE=SNP;DBXREF=dbSNP:rs3738870,g1000:0.3940,GnomAD_AC_genome:8162,GnomAD_AN_genome:30926,GnomAD:0.2639;SGVEP=ALK|-|NM_004304|27|c.4073+93G>A|.|intronic GT:DP:AD:DP4 0/1:24:9,15:6,3,8,7 2 29445458 135156729 G T 906 PASS VARTYPE=1;BGN=0.00105744;ARL=210;DER=69;DEA=69;QR=37;QA=37;PBP=472;PBM=443;TYPE=SNP;DBXREF=dbSNP:rs3795850,g1000:0.4159,esp5400:0.2217,ExAC:0.3240,clinvar:rs3795850,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:82485,GnomAD_AN_exome:245248,GnomAD_AC_genome:8462,GnomAD_AN_genome:30856,GnomAD:0.3294;SGVEP=ALK|-|NM_004304|21|c.3375C>A|p.(Gly1125:)|synonymous GT:DP:AD:DP4 0/1:88:49,39:24,25,20,19 2 29446128 135156910 A G 319 off_target VARTYPE=1;BGN=0.00105744;ARL=255;DER=44;DEA=36;QR=37;QA=37;PBP=173;PBM=152;TYPE=SNP;DBXREF=dbSNP:rs12989497,g1000:0.0657,GnomAD_AC_genome:3709,GnomAD_AN_genome:30878,GnomAD:0.1201;SGVEP=ALK|-|NM_004304|20|c.3359+80T>C|.|intronic GT:DP:AD:DP4 0/1:25:12,13:7,5,7,6 2 29446184 135156937 C G 752 off_target VARTYPE=1;BGN=0.00127257;ARL=229;DER=63;DEA=53;QR=37;QA=36;PBP=428;PBM=332;TYPE=SNP;DBXREF=dbSNP:rs2276550,g1000:0.4207,esp5400:0.2238,ExAC:0.3290,GnomAD_AC_exome:83306,GnomAD_AN_exome:243758,GnomAD_AC_genome:8530,GnomAD_AN_genome:30868,GnomAD:0.3344;SGVEP=ALK|-|NM_004304|20|c.3359+24G>C|.|intronic GT:DP:AD:DP4 0/1:82:48,34:25,23,19,15 2 29449697 135157796 C T 190 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=253;DER=35;DEA=27;QR=38;QA=36;PBP=97;PBM=97;SP=0;TYPE=SNP;DBXREF=dbSNP:rs116012417,g1000:0.0030,GnomAD_AC_genome:236,GnomAD_AN_genome:30956,GnomAD:0.0076;SGVEP=ALK|-|NM_004304|18|c.3067+91G>A|.|intronic GT:DP:AD:DP4 0/1:16:8,8:4,4,4,4 2 29455267 135159298 A G 1267 PASS VARTYPE=1;BGN=0.00105744;ARL=208;DER=87;DEA=76;QR=37;QA=37;PBP=625;PBM=654;TYPE=SNP;DBXREF=dbSNP:rs2256740,g1000:0.5000,esp5400:0.6601,ExAC:0.6120,clinvar:rs2256740,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:149770,GnomAD_AN_exome:246202,GnomAD_AC_genome:19184,GnomAD_AN_genome:30900,GnomAD:0.6097;SGVEP=ALK|-|NM_004304|15|c.2535T>C|p.(Gly845:)|synonymous GT:DP:AD:DP4 0/1:126:71,55:36,35,27,28 2 29455349 675566840 G A 469 off_target VARTYPE=1;BGN=0.00105744;ARL=226;DER=52;DEA=42;QR=37;QA=37;PBP=226;PBM=250;TYPE=SNP;DBXREF=dbSNP:rs972066339,GnomAD_AC_exome:2,GnomAD_AN_exome:245358,GnomAD_AC_genome:1,GnomAD_AN_genome:30958,GnomAD:0.0000;SGVEP=ALK|-|NM_004304|15|c.2488-35C>T|.|intronic GT:DP:AD:DP4 0/1:58:37,21:18,19,10,11 2 29498210 135174700 A G 1246 off_target VARTYPE=1;BGN=0.00105744;ARL=231;DEA=61;QA=37;PBP=654;PBM=594;TYPE=SNP;DBXREF=dbSNP:rs4589708,g1000:0.8514,GnomAD_AC_genome:27745,GnomAD_AN_genome:30912,GnomAD:0.8975;SGVEP=ALK|-|NM_004304|10|c.1912+58T>C|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,22,20 2 29519622 135179121 C T 281 low_coverage;off_target VARTYPE=1;BGN=0.00153147;ARL=270;DEA=60;QA=35;PBP=169;PBM=113;TYPE=SNP;DBXREF=dbSNP:rs2272409,g1000:0.7047,GnomAD_AC_genome:23106,GnomAD_AN_genome:30878,GnomAD:0.7483;SGVEP=ALK|-|NM_004304|9|c.1817+132G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,6,4 2 29541104 135183329 C T 1424 off_target VARTYPE=1;BGN=0.00105744;ARL=241;DEA=68;QA=37;PBP=743;PBM=683;TYPE=SNP;DBXREF=dbSNP:rs2276549,g1000:0.5847,GnomAD_AC_genome:17881,GnomAD_AN_genome:30906,GnomAD:0.5786;SGVEP=ALK|-|NM_004304|8|c.1647+66G>A|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,25,23 2 29543663 135184088 T C 2603 PASS VARTYPE=1;BGN=0.00105744;ARL=224;DEA=95;QA=37;PBP=1364;PBM=1246;TYPE=SNP;DBXREF=dbSNP:rs2293564,g1000:0.7766,esp5400:0.7886,ExAC:0.8720,clinvar:rs2293564,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:216269,GnomAD_AN_exome:246242,GnomAD_AC_genome:24786,GnomAD_AN_genome:30894,GnomAD:0.8698;SGVEP=ALK|-|NM_004304|7|c.1500A>G|p.(Gln500:)|synonymous GT:DP:AD:DP4 1/1:88:0,88:0,0,46,42 2 29754721 135225400 T C 752 off_target VARTYPE=1;BGN=0.00127257;ARL=259;DEA=45;QA=36;PBP=405;PBM=347;TYPE=SNP;DBXREF=dbSNP:rs11689790,g1000:0.0645,GnomAD_AC_genome:3795,GnomAD_AN_genome:30954,GnomAD:0.1226;SGVEP=ALK|-|NM_004304|4|c.1154+60A>G|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,14,12 2 29917940 135255449 C G 352 off_target VARTYPE=1;BGN=0.00127257;ARL=233;DER=36;DEA=41;QR=32;QA=36;PBP=170;PBM=188;TYPE=SNP;DBXREF=dbSNP:rs2256376,g1000:0.6076,GnomAD_AC_genome:19718,GnomAD_AN_genome:30892,GnomAD:0.6383;SGVEP=ALK|-|NM_004304|3|c.788-60G>C|.|intronic GT:DP:AD:DP4 0/1:30:15,15:6,9,7,8 2 29940529 126472 A T 344 PASS VARTYPE=1;BGN=0.00105744;ARL=220;DER=75;DEA=102;QR=38;QA=37;PBP=189;PBM=161;TYPE=SNP;DBXREF=dbSNP:rs2246745,g1000:0.5893,esp5400:0.6246,ExAC:0.7330,clinvar:rs2246745,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:182599,GnomAD_AN_exome:246184,GnomAD_AC_genome:19656,GnomAD_AN_genome:30902,GnomAD:0.7299;SGVEP=ALK|-|NM_004304|2|c.702T>A|p.(Pro234:)|synonymous GT:DP:AD:DP4 0/1:38:23,15:11,12,8,7 2 30143499 135301574 G C 2632 PASS VARTYPE=1;BGN=0.00105744;ARL=208;DEA=75;QA=37;PBP=1217;PBM=1424;TYPE=SNP;DBXREF=dbSNP:rs4358080,g1000:0.8938,esp5400:0.9071,ExAC:0.8780,clinvar:rs4358080,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:124133,GnomAD_AN_exome:136918,GnomAD_AC_genome:27388,GnomAD_AN_genome:30802,GnomAD:0.9034;SGVEP=ALK|-|NM_004304|1|c.27C>G|p.(Leu9:)|synonymous GT:DP:AD:DP4 1/1:89:0,89:0,0,41,48 2 31188957 135509012 C T 357 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=270;DEA=39;QA=37;PBP=178;PBM=178;TYPE=SNP;DBXREF=dbSNP:rs889896,g1000:0.9762,GnomAD_AC_genome:29324,GnomAD_AN_genome:30928,GnomAD:0.9481;SGVEP=GALNT14|-|NM_001253826|4|c.413+113G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 31570376 126489 T C 1601 off_target VARTYPE=1;BGN=0.00105744;ARL=217;DEA=55;QA=37;PBP=802;PBM=802;TYPE=SNP;DBXREF=dbSNP:rs1366813,g1000:0.7774,esp5400:0.7526,ExAC:0.7780,clinvar:rs1366813,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:190948,GnomAD_AN_exome:245932,GnomAD_AC_genome:23304,GnomAD_AN_genome:30926,GnomAD:0.7739;SGVEP=XDH|-|NM_000379|29|c.3276+12A>G|.|intronic GT:DP:AD:DP4 1/1:54:0,54:0,0,27,27 2 31570626 135589723 C T 476 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=267;DEA=50;QA=37;PBP=208;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs4952083,g1000:0.7967,GnomAD_AC_genome:23761,GnomAD_AN_genome:30842,GnomAD:0.7704;SGVEP=XDH|-|NM_000379|29|c.3148-110G>A|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,7,9 2 31570631 135589727 A G 450 low_coverage;off_target VARTYPE=1;BGN=0.00153147;ARL=267;DEA=45;QA=35;PBP=197;PBM=253;TYPE=SNP;DBXREF=dbSNP:rs4952084,g1000:0.7971,GnomAD_AC_genome:23761,GnomAD_AN_genome:30844,GnomAD:0.7704;SGVEP=XDH|-|NM_000379|29|c.3148-115T>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,7,9 2 31571241 135590039 G C 671 off_target VARTYPE=1;BGN=0.000878683;ARL=228;DEA=68;QA=38;PBP=366;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs13415401,g1000:0.7684,esp5400:0.7444,ExAC:0.7740,clinvar:rs13415401,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:189250,GnomAD_AN_exome:244724,GnomAD_AC_genome:23097,GnomAD_AN_genome:30932,GnomAD:0.7703;SGVEP=XDH|-|NM_000379|28|c.3052-12C>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,12,10 2 31572482 135590489 TGGGG TGGGGG 441 off_target VARTYPE=1;BGN=0.0206363;ARL=254;DER=48;DEA=38;QR=27;QA=37;HL=4;PBP=224;PBM=219;TYPE=INDEL;DBXREF=dbSNP:rs11408029,GnomAD_AC_genome:23711,GnomAD_AN_genome:30854,GnomAD:0.7685;SGVEP=XDH|-|NM_000379|26|c.2969+69dupC|.|intronic GT:DP:AD:DP4 1/1:28:1,27:1,0,14,13 2 31587235 135594212 G A 305 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=272;DEA=47;QA=38;PBP=153;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs1018505,g1000:0.7702,GnomAD_AC_genome:23342,GnomAD_AN_genome:30810,GnomAD:0.7576;SGVEP=XDH|-|NM_000379|24|c.2545-125C>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 31588288 135594512 T A 925 off_target VARTYPE=1;BGN=0.00127257;ARL=233;DEA=63;QA=36;PBP=463;PBM=463;TYPE=SNP;DBXREF=dbSNP:rs2365842,g1000:0.6621,esp5400:0.6299,ExAC:0.7090,GnomAD_AC_exome:175282,GnomAD_AN_exome:246094,GnomAD_AC_genome:20113,GnomAD_AN_genome:30900,GnomAD:0.7054;SGVEP=XDH|-|NM_000379|23|c.2544+35A>T|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,16,16 2 31589654 135595146 T C 228 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=247;DER=39;DEA=54;QR=37;QA=38;PBP=129;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs13387204,g1000:0.2853,GnomAD_AC_genome:10701,GnomAD_AN_genome:30880,GnomAD:0.3465;SGVEP=XDH|-|NM_000379|21|c.2322+82A>G|.|intronic GT:DP:AD:DP4 0/1:18:9,9:5,4,5,4 2 31589847 135595282 G A 822 PASS VARTYPE=1;BGN=0.00127257;ARL=218;DER=86;DEA=64;QR=37;QA=36;PBP=415;PBM=415;TYPE=SNP;DBXREF=dbSNP:rs2295475,g1000:0.2702,esp5400:0.2315,ExAC:0.3040,clinvar:rs2295475,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:76231,GnomAD_AN_exome:246218,GnomAD_AC_genome:7637,GnomAD_AN_genome:30936,GnomAD:0.3026;SGVEP=XDH|-|NM_000379|21|c.2211C>T|p.(Ile737:)|synonymous GT:DP:AD:DP4 0/1:76:40,36:20,20,18,18 2 31590759 135596280 C T 207 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=245;DER=5;DEA=72;QR=35;QA=37;PBP=104;PBM=107;TYPE=SNP;DBXREF=dbSNP:rs2281550,g1000:0.2532,GnomAD_AC_genome:9699,GnomAD_AN_genome:30904,GnomAD:0.3138;SGVEP=XDH|-|NM_000379|20|c.2197+68G>A|.|intronic GT:DP:AD:DP4 0/1:13:5,8:3,2,4,4 2 31590785 135596291 C G 218 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=224;DER=77;DEA=18;QR=35;QA=37;PBP=125;PBM=98;SP=0;TYPE=SNP;DBXREF=dbSNP:rs761926,g1000:0.2732,esp5400:0.2268,ExAC:0.3030,GnomAD_AC_exome:76052,GnomAD_AN_exome:246166,GnomAD_AC_genome:7522,GnomAD_AN_genome:30888,GnomAD:0.3017;SGVEP=XDH|-|NM_000379|20|c.2197+42G>C|.|intronic GT:DP:AD:DP4 0/1:19:10,9:5,5,5,4 2 31598485 135599287 T C 333 off_target VARTYPE=1;BGN=0.00105744;ARL=246;DER=70;DEA=52;QR=36;QA=37;PBP=155;PBM=183;TYPE=SNP;DBXREF=dbSNP:rs2070294,g1000:0.3165,GnomAD_AC_genome:8158,GnomAD_AN_genome:30926,GnomAD:0.2638;SGVEP=XDH|-|NM_000379|15|c.1428-65A>G|.|intronic GT:DP:AD:DP4 0/1:21:8,13:4,4,6,7 2 31600146 135599818 T C 352 off_target VARTYPE=1;BGN=0.00127257;ARL=240;DER=24;DEA=31;QR=35;QA=36;PBP=167;PBM=190;TYPE=SNP;DBXREF=dbSNP:rs10187719,g1000:0.7508,esp5400:0.7365,ExAC:0.7310,GnomAD_AC_exome:178815,GnomAD_AN_exome:244988,GnomAD_AC_genome:22867,GnomAD_AN_genome:30862,GnomAD:0.7311;SGVEP=XDH|-|NM_000379|14|c.1243-43A>G|.|intronic GT:DP:AD:DP4 0/1:30:15,15:7,8,7,8 2 31609448 135601927 A C 1985 off_target VARTYPE=1;BGN=0.00105744;ARL=224;DEA=45;QA=37;PBP=920;PBM=1069;TYPE=SNP;DBXREF=dbSNP:rs477626,g1000:1.0000,ExAC:1.0000,GnomAD_AC_exome:245993,GnomAD_AN_exome:245994,GnomAD_AC_genome:30958,GnomAD_AN_genome:30958,GnomAD:1.0000;SGVEP=XDH|-|NM_000379|9|c.652-27T>G|.|intronic GT:DP:AD:DP4 1/1:67:0,67:0,0,31,36 2 31611029 135602151 G A 386 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=239;DEA=70;QA=37;PBP=208;PBM=178;TYPE=SNP;DBXREF=dbSNP:rs2073316,g1000:0.3572,esp5400:0.4323,GnomAD_AC_genome:13271,GnomAD_AN_genome:30818,GnomAD:0.4306;SGVEP=XDH|-|NM_000379|7|c.564+64C>T|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 2 31805619 135639818 T C 301 low_coverage;off_target VARTYPE=1;BGN=0.00184304;ARL=267;DEA=54;QA=34;PBP=191;PBM=109;TYPE=SNP;DBXREF=dbSNP:rs619857,g1000:1.0000,GnomAD_AC_genome:30951,GnomAD_AN_genome:30952,GnomAD:1.0000;SGVEP=SRD5A2|-|NM_000348|2|c.278+71A>G|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,7,4 2 31805675 126530 A G 1157 off_target VARTYPE=1;BGN=0.00105744;ARL=236;DEA=43;QA=37;PBP=654;PBM=505;TYPE=SNP;DBXREF=dbSNP:rs522638,g1000:0.6424,esp5400:0.7005,ExAC:0.5840,clinvar:rs522638,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:94558,GnomAD_AN_exome:146682,GnomAD_AC_genome:20989,GnomAD_AN_genome:30880,GnomAD:0.6507;SGVEP=SRD5A2|-|NM_000348|2|c.278+15T>C|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,22,17 2 31805706 126533 G C 1808 PASS VARTYPE=1;BGN=0.00105744;ARL=236;DEA=53;QA=37;PBP=1009;PBM=802;TYPE=SNP;DBXREF=dbSNP:rs523349,g1000:0.6522,esp5400:0.7253,ExAC:0.6370,clinvar:rs523349,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:131500,GnomAD_AN_exome:199674,GnomAD_AC_genome:21616,GnomAD_AN_genome:30890,GnomAD:0.6641;SGVEP=SRD5A2|-|NM_000348|2|c.262C>G|p.(Leu88Val)|missense GT:DP:AD:DP4 1/1:61:0,61:0,0,34,27 2 31805880 135642582 AGG AGGG 1952 PASS VARTYPE=1;BGN=0.0131144;ARL=231;DER=4;DEA=98;QR=29;QA=36;HL=2;PBP=916;PBM=1041;TYPE=INDEL;DBXREF=dbSNP:rs142200057,g1000:1.0000,ExAC:1.0000,clinvar:rs61748121,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:239801,GnomAD_AN_exome:239806,GnomAD_AC_genome:30940,GnomAD_AN_genome:30940,GnomAD:1.0000;SGVEP=SRD5A2|-|NM_000348|2|c.88-1dupC|p.(Ser30Leufs*105)|frameshift GT:DP:AD:DP4 1/1:113:4,108:2,2,51,57 2 31806031 126549 C G 703 off_target VARTYPE=1;BGN=0.00153147;ARL=243;DEA=53;QA=35;PBP=309;PBM=394;TYPE=SNP;DBXREF=dbSNP:rs632148,g1000:0.6404,clinvar:rs632148,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:20936,GnomAD_AN_genome:30874,GnomAD:0.6781;SGVEP=SRD5A2|-|NM_000348|1|c.-62G>C|.|5'UTR GT:DP:AD:DP4 1/1:25:0,25:0,0,11,14 2 33172307 135940790 C G 142 low_coverage;off_target VARTYPE=1;BGN=0.00266922;ARL=214;DER=20;DEA=24;QR=35;QA=32;PBP=105;PBM=41;SP=0;TYPE=SNP;DBXREF=dbSNP:rs112060237,g1000:0.0543,GnomAD_AC_genome:2833,GnomAD_AN_genome:30302,GnomAD:0.0935;SGVEP=LTBP1|+|NM_206943|1|.|.|intergenic GT:DP:AD:DP4 0/1:15:8,7:5,3,5,2 2 33174072 135941805 A C 540 off_target VARTYPE=1;BGN=0.000878683;ARL=242;DER=41;DEA=73;QR=37;QA=38;PBP=259;PBM=287;TYPE=SNP;DBXREF=dbSNP:rs150654,g1000:0.2536,esp5400:0.3494,GnomAD_AC_genome:9892,GnomAD_AN_genome:30858,GnomAD:0.3206;SGVEP=LTBP1|+|NM_206943|2|c.565+60A>C|.|intronic GT:DP:AD:DP4 0/1:37:16,21:8,8,10,11 2 33335847 136010537 C T 447 off_target VARTYPE=1;BGN=0.00127257;ARL=244;DER=69;DEA=92;QR=37;QA=36;PBP=216;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs218226,g1000:0.3924,esp5400:0.3810,ExAC:0.4120,GnomAD_AC_exome:102321,GnomAD_AN_exome:243956,GnomAD_AC_genome:11921,GnomAD_AN_genome:30918,GnomAD:0.4156;SGVEP=LTBP1|+|NM_206943|4|c.1033+29C>T|.|intronic GT:DP:AD:DP4 0/1:61:40,21:19,21,10,11 2 33412077 136035861 G A 1789 PASS VARTYPE=1;BGN=0.00105744;ARL=218;DER=89;DEA=101;QR=36;QA=37;PBP=915;PBM=889;TYPE=SNP;DBXREF=dbSNP:rs1065324,g1000:0.3678,esp5400:0.4455,ExAC:0.4590,GnomAD_AC_exome:113454,GnomAD_AN_exome:246038,GnomAD_AC_genome:14112,GnomAD_AN_genome:30908,GnomAD:0.4606;SGVEP=LTBP1|+|NM_000627|2|c.378G>A|p.(Ala126:)|synonymous GT:DP:AD:DP4 0/1:191:112,79:56,56,40,39 2 33413640 136036390 G T 522 PASS VARTYPE=1;BGN=0.00105744;ARL=201;DER=42;DEA=48;QR=35;QA=37;PBP=252;PBM=277;TYPE=SNP;DBXREF=dbSNP:rs6712473,g1000:0.4467,esp5400:0.5332,ExAC:0.4960,GnomAD_AC_exome:119678,GnomAD_AN_exome:241578,GnomAD_AC_genome:16454,GnomAD_AN_genome:30880,GnomAD:0.4996;SGVEP=LTBP1|+|NM_000627|3|c.449-4G>T|.|intronic GT:DP:AD:DP4 0/1:59:36,23:18,18,11,12 2 33413949 136036743 G A 497 off_target VARTYPE=1;BGN=0.00127257;ARL=231;DER=71;DEA=59;QR=38;QA=36;PBP=226;PBM=277;TYPE=SNP;DBXREF=dbSNP:rs4542826,g1000:0.4950,esp5400:0.5724,ExAC:0.5400,GnomAD_AC_exome:130301,GnomAD_AN_exome:240706,GnomAD_AC_genome:17352,GnomAD_AN_genome:30894,GnomAD:0.5436;SGVEP=LTBP1|+|NM_000627|3|c.723+31G>A|.|intronic GT:DP:AD:DP4 0/1:50:28,22:14,14,10,12 2 33414009 136036775 T A 654 off_target VARTYPE=1;BGN=0.00105744;ARL=248;DEA=31;QA=37;PBP=297;PBM=357;TYPE=SNP;DBXREF=dbSNP:rs3922572,g1000:0.9609,GnomAD_AC_genome:29317,GnomAD_AN_genome:30792,GnomAD:0.9521;SGVEP=LTBP1|+|NM_000627|3|c.723+91T>A|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,10,12 2 33442549 136043918 G A 492 off_target VARTYPE=1;BGN=0.00105744;ARL=224;DER=29;DEA=38;QR=35;QA=37;PBP=278;PBM=221;TYPE=SNP;DBXREF=dbSNP:rs2290449,g1000:0.4828,GnomAD_AC_genome:17156,GnomAD_AN_genome:30880,GnomAD:0.5556;SGVEP=LTBP1|+|NM_000627|4|c.724-70G>A|.|intronic GT:DP:AD:DP4 0/1:37:17,20:8,9,11,9 2 33447202 136045430 C T 223 PASS VARTYPE=1;BGN=0.00105744;ARL=215;DER=68;DEA=82;QR=37;QA=37;PBP=114;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs2290448,g1000:0.3327,esp5400:0.4038,ExAC:0.4310,GnomAD_AC_exome:106766,GnomAD_AN_exome:245780,GnomAD_AC_genome:13042,GnomAD_AN_genome:30882,GnomAD:0.4330;SGVEP=LTBP1|+|NM_000627|5|c.882C>T|p.(Asn294:)|synonymous GT:DP:AD:DP4 0/1:30:20,10:10,10,5,5 2 33477964 136057220 C T 193 off_target VARTYPE=1;BGN=0.000878683;ARL=248;DER=60;DEA=52;QR=37;QA=38;PBP=99;PBM=99;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3731575,g1000:0.1753,GnomAD_AC_genome:7229,GnomAD_AN_genome:30942,GnomAD:0.2336;SGVEP=LTBP1|+|NM_000627|7|c.1189+53C>T|.|intronic GT:DP:AD:DP4 0/1:20:12,8:6,6,4,4 2 33488419 136059807 G A 216 PASS VARTYPE=1;BGN=0.000878683;ARL=188;DER=84;DEA=75;QR=37;QA=38;PBP=111;PBM=111;TYPE=SNP;DBXREF=dbSNP:rs12468099,g1000:0.1675,esp5400:0.2116,ExAC:0.2460,GnomAD_AC_exome:61107,GnomAD_AN_exome:245944,GnomAD_AC_genome:7051,GnomAD_AN_genome:30926,GnomAD:0.2462;SGVEP=LTBP1|+|NM_000627|11|c.1599G>A|p.(Thr533:)|synonymous GT:DP:AD:DP4 0/1:40:30,10:15,15,5,5 2 33500848 136062513 A G 1287 off_target VARTYPE=1;BGN=0.00105744;ARL=231;DER=73;DEA=59;QR=38;QA=37;PBP=664;PBM=633;TYPE=SNP;DBXREF=dbSNP:rs3816479,g1000:0.1839,esp5400:0.2373,ExAC:0.2700,GnomAD_AC_exome:67059,GnomAD_AN_exome:245896,GnomAD_AC_genome:7692,GnomAD_AN_genome:30932,GnomAD:0.2700;SGVEP=LTBP1|+|NM_000627|14|c.1892-20A>G|.|intronic GT:DP:AD:DP4 0/1:82:30,51:15,15,26,25 2 33525407 136073100 A G 165 low_coverage;off_target VARTYPE=1;BGN=0.00153147;ARL=287;DER=12;DEA=31;QR=36;QA=35;PBP=123;PBM=46;SP=2;TYPE=SNP;DBXREF=dbSNP:rs2123769,g1000:0.1767,GnomAD_AC_genome:7539,GnomAD_AN_genome:30958,GnomAD:0.2435;SGVEP=LTBP1|+|NM_000627|17|c.2258-111A>G|.|intronic GT:DP:AD:DP4 0/1:13:6,7:3,3,5,2 2 33540138 136077037 G A 594 off_target VARTYPE=1;BGN=0.00105744;ARL=235;DEA=30;QA=37;PBP=297;PBM=297;TYPE=SNP;DBXREF=dbSNP:rs2276591,g1000:0.5503,GnomAD_AC_genome:20021,GnomAD_AN_genome:30430,GnomAD:0.6579;SGVEP=LTBP1|+|NM_000627|20|c.2627-73G>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 2 33540172 136077088 ATTTTTTT ATTTTTTTT 163 off_target VARTYPE=1;BGN=0.0439614;ARL=239;DER=53;DEA=44;QR=37;QA=37;HL=7;PBP=85;PBM=85;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs397840290,g1000:0.2710,ExAC:0.3640,GnomAD_AC_exome:75913,GnomAD_AN_exome:208624,GnomAD_AC_genome:10696,GnomAD_AN_genome:30876,GnomAD:0.3616;SGVEP=LTBP1|+|NM_000627|20|c.2627-32dupT|.|intronic GT:DP:AD:DP4 0/1:40:18,20:9,9,10,10 2 33540248 136077167 G A 2750 PASS VARTYPE=1;BGN=0.00105744;ARL=209;DEA=80;QA=37;PBP=1394;PBM=1364;TYPE=SNP;DBXREF=dbSNP:rs1058840,g1000:0.4603,esp5400:0.5570,ExAC:0.6000,PhyloP:-0.2760,MutationTaster:1.0000,GERP:1.2800,GnomAD_AC_exome:147875,GnomAD_AN_exome:244134,GnomAD_AC_genome:18194,GnomAD_AN_genome:30914,GnomAD:0.6038;SGVEP=LTBP1|+|NM_000627|20|c.2664G>A|p.(Pro888:)|synonymous GT:DP:AD:DP4 1/1:93:0,93:0,0,47,46 2 33572555 136087985 G A 2124 PASS VARTYPE=1;BGN=0.00105744;ARL=209;DER=54;DEA=82;QR=37;QA=37;PBP=1060;PBM=1080;TYPE=SNP;DBXREF=dbSNP:rs6706620,g1000:0.0903,esp5400:0.1324,ExAC:0.1030,GnomAD_AC_exome:24934,GnomAD_AN_exome:246108,GnomAD_AC_genome:3901,GnomAD_AN_genome:30940,GnomAD:0.1041;SGVEP=LTBP1|+|NM_000627|22|c.3000G>A|p.(Gln1000:)|synonymous GT:DP:AD:DP4 0/1:155:68,87:33,35,43,44 2 33585796 136092241 T C 2368 PASS VARTYPE=1;BGN=0.00105744;ARL=231;DEA=114;QA=37;PBP=1217;PBM=1157;TYPE=SNP;DBXREF=dbSNP:rs4422143,g1000:1.0000,esp5400:0.9999,ExAC:1.0000,PhyloP:1.1800,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.1450,GERP:4.8900,GnomAD_AC_exome:246035,GnomAD_AN_exome:246052,GnomAD_AC_genome:30987,GnomAD_AN_genome:30988,GnomAD:0.9999;SGVEP=LTBP1|+|NM_000627|23|c.3155T>C|p.(Val1052Ala)|missense GT:DP:AD:DP4 1/1:80:0,80:0,0,41,39 2 33614187 136101116 C T 540 off_target VARTYPE=1;BGN=0.00153147;ARL=249;DER=41;DEA=57;QR=34;QA=35;PBP=268;PBM=280;TYPE=SNP;DBXREF=dbSNP:rs642472,g1000:0.5026,GnomAD_AC_genome:13709,GnomAD_AN_genome:30850,GnomAD:0.4444;SGVEP=LTBP1|+|NM_000627|28|c.3734-64C>T|.|intronic GT:DP:AD:DP4 0/1:48:24,24:14,10,12,12 2 33623387 136103734 A G 1340 off_target VARTYPE=1;BGN=0.000878683;ARL=225;DEA=45;QA=38;PBP=671;PBM=671;TYPE=SNP;DBXREF=dbSNP:rs624060,g1000:0.7808,esp5400:0.7897,ExAC:0.7670,GnomAD_AC_exome:173271,GnomAD_AN_exome:224248,GnomAD_AC_genome:25004,GnomAD_AN_genome:30802,GnomAD:0.7774;SGVEP=LTBP1|+|NM_000627|30|c.4007-44A>G|.|intronic GT:DP:AD:DP4 1/1:44:0,44:0,0,22,22 2 33623388 136103746 T C 1340 off_target VARTYPE=1;BGN=0.000878683;ARL=225;DEA=46;QA=38;PBP=671;PBM=671;TYPE=SNP;DBXREF=dbSNP:rs624058,g1000:0.7808,esp5400:0.7903,ExAC:0.7670,GnomAD_AC_exome:173956,GnomAD_AN_exome:225176,GnomAD_AC_genome:25006,GnomAD_AN_genome:30800,GnomAD:0.7773;SGVEP=LTBP1|+|NM_000627|30|c.4007-43T>C|.|intronic GT:DP:AD:DP4 1/1:44:0,44:0,0,22,22 2 38298150 126638 A G 1097 PASS VARTYPE=1;BGN=0.00127257;ARL=216;DER=94;DEA=116;QR=37;QA=36;PBP=604;PBM=504;TYPE=SNP;DBXREF=dbSNP:rs1056837,g1000:0.6202,esp5400:0.4532,ExAC:0.6220,clinvar:rs1056837,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:156172,GnomAD_AN_exome:246226,GnomAD_AC_genome:15709,GnomAD_AN_genome:30906,GnomAD:0.6202;SGVEP=CYP1B1|-|NM_000104|3|c.1347T>C|p.(Asp449:)|synonymous GT:DP:AD:DP4 0/1:122:72,50:36,36,27,23 2 38298203 126641 C G 1337 PASS VARTYPE=1;BGN=0.00105744;ARL=222;DER=97;DEA=114;QR=36;QA=37;PBP=729;PBM=620;TYPE=SNP;DBXREF=dbSNP:rs1056836,g1000:0.6148,esp5400:0.4449,ExAC:0.6190,PhyloP:2.8240,SIFT:0.6870,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0010,LRT:0.2720,MutationTaster:0.0000,GERP:5.9500,clinvar:rs1056836,CLNSIG:drug_response,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:155484,GnomAD_AN_exome:246048,GnomAD_AC_genome:15530,GnomAD_AN_genome:30906,GnomAD:0.6175;SGVEP=CYP1B1|-|NM_000104|3|c.1294G>C|p.(Val432Leu)|missense GT:DP:AD:DP4 0/1:111:55,56:27,28,30,26 2 38302177 126658 C A 1612 PASS VARTYPE=1;BGN=0.00127257;ARL=223;DER=105;DEA=109;QR=35;QA=36;PBP=831;PBM=794;TYPE=SNP;DBXREF=dbSNP:rs1056827,g1000:0.3624,esp5400:0.3387,ExAC:0.3050,PhyloP:-0.7370,SIFT:0.9350,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.8490,MutationTaster:0.0000,GERP:-0.8790,clinvar:rs1056827,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:64357,GnomAD_AN_exome:201454,GnomAD_AC_genome:10920,GnomAD_AN_genome:30810,GnomAD:0.3241;SGVEP=CYP1B1|-|NM_000104|2|c.355G>T|p.(Ala119Ser)|missense GT:DP:AD:DP4 0/1:149:78,71:37,41,36,35 2 38302390 126664 G C 1279 PASS VARTYPE=1;BGN=0.00105744;ARL=211;DER=102;DEA=93;QR=36;QA=37;PBP=672;PBM=618;TYPE=SNP;DBXREF=dbSNP:rs10012,g1000:0.3748,esp5400:0.3494,ExAC:0.3010,PhyloP:-0.9820,SIFT:0.5970,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0100,MutationTaster:0.0000,GERP:-4.7700,clinvar:rs10012,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:65961,GnomAD_AN_exome:210998,GnomAD_AC_genome:11243,GnomAD_AN_genome:30860,GnomAD:0.3192;SGVEP=CYP1B1|-|NM_000104|2|c.142C>G|p.(Arg48Gly)|missense GT:DP:AD:DP4 0/1:133:77,56:38,39,29,27 2 38302544 126667 G A 576 off_target VARTYPE=1;BGN=0.00105744;ARL=215;DER=58;DEA=52;QR=36;QA=37;PBP=293;PBM=291;TYPE=SNP;DBXREF=dbSNP:rs2617266,g1000:0.2941,esp5400:0.2649,ExAC:0.2900,clinvar:rs2617266,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:69759,GnomAD_AN_exome:237902,GnomAD_AC_genome:8958,GnomAD_AN_genome:30886,GnomAD:0.2929;SGVEP=CYP1B1|-|NM_000104|2|c.-1-12C>T|.|intronic GT:DP:AD:DP4 0/1:73:47,26:23,24,13,13 2 39214821 137602790 A C 405 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=234;DEA=14;QA=36;PBP=203;PBM=203;TYPE=SNP;DBXREF=dbSNP:rs2290445,g1000:0.9024,GnomAD_AC_genome:29208,GnomAD_AN_genome:30956,GnomAD:0.9435;SGVEP=SOS1|-|NM_005633|22|c.3392-89T>G|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 39224351 137604672 G T 549 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=239;DEA=49;QA=38;PBP=275;PBM=275;TYPE=SNP;DBXREF=dbSNP:rs1454223,g1000:0.9002,esp5400:0.9452,ExAC:0.9190,clinvar:rs1454223,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:221520,GnomAD_AN_exome:240448,GnomAD_AC_genome:29183,GnomAD_AN_genome:30930,GnomAD:0.9238;SGVEP=SOS1|-|NM_005633|18|c.2964+43C>A|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 39233500 126735 G A 505 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=223;DEA=33;QA=37;PBP=238;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs7577088,g1000:0.9052,clinvar:rs7577088,CLNSIG:Benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_genome:29271,GnomAD_AN_genome:30942,GnomAD:0.9460;SGVEP=SOS1|-|NM_005633|17|c.2791+53C>T|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,8,9 2 39281730 126821 G C 832 off_target VARTYPE=1;BGN=0.00105744;ARL=233;DEA=51;QA=37;PBP=416;PBM=416;TYPE=SNP;DBXREF=dbSNP:rs997344,g1000:0.8914,esp5400:0.9377,ExAC:0.9000,clinvar:rs997344,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:218759,GnomAD_AN_exome:242544,GnomAD_AC_genome:28733,GnomAD_AN_genome:30972,GnomAD:0.9049;SGVEP=SOS1|-|NM_005633|5|c.720+25C>G|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,14,14 2 43451412 138652490 C T 131 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=218;DER=33;DEA=67;QR=37;QA=36;PBP=68;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs375785322,esp5400:0.0016,ExAC:0.0017,GnomAD_AC_exome:204,GnomAD_AN_exome:96990,GnomAD_AC_genome:121,GnomAD_AN_genome:30864,GnomAD:0.0025;SGVEP=ZFP36L2|-|NM_006887|2|c.*46G>A|.|3'UTR GT:DP:AD:DP4 0/1:18:12,6:6,6,3,3 2 43451957 138653259 G A 919 PASS VARTYPE=1;BGN=0.00153147;ARL=223;DER=110;DEA=100;QR=36;QA=35;PBP=451;PBM=476;TYPE=SNP;DBXREF=dbSNP:rs149290349,g1000:0.0202,esp5400:0.0575,ExAC:0.0320,PhyloP:1.6260,SIFT:0.9910,PolyPhen2:0.1180,PolyPhen2_HumDiv:0.6340,LRT:0.7150,MutationTaster:1.0000,GERP:3.2400,GnomAD_AC_exome:2025,GnomAD_AN_exome:29918,GnomAD_AC_genome:1334,GnomAD_AN_genome:30368,GnomAD:0.0557;SGVEP=ZFP36L2|-|NM_006887|2|c.986C>T|p.(Ala329Val)|missense GT:DP:AD:DP4 0/1:81:40,41:20,20,20,21 2 43452183 138653688 A G 1049 PASS VARTYPE=1;BGN=0.00105744;ARL=227;DER=103;DEA=99;QR=35;QA=37;PBP=557;PBM=503;TYPE=SNP;DBXREF=dbSNP:rs7933,g1000:0.5008,esp5400:0.4775,ExAC:0.3790,GnomAD_AC_exome:85179,GnomAD_AN_exome:222226,GnomAD_AC_genome:13989,GnomAD_AN_genome:30772,GnomAD:0.3920;SGVEP=ZFP36L2|-|NM_006887|2|c.760T>C|p.(Leu254:)|synonymous GT:DP:AD:DP4 0/1:111:65,46:32,33,24,22 2 44066174 126885 T G 339 off_target VARTYPE=1;BGN=0.00127257;ARL=229;DER=40;DEA=26;QR=35;QA=36;PBP=197;PBM=147;TYPE=SNP;DBXREF=dbSNP:rs3806471,g1000:0.4894,esp5400:0.2918,ExAC:0.2650,clinvar:rs3806471,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:58882,GnomAD_AN_exome:147984,GnomAD_AC_genome:11759,GnomAD_AN_genome:30794,GnomAD:0.3951;SGVEP=ABCG8|+|NM_022437|1|c.-19T>G|.|5'UTR GT:DP:AD:DP4 0/1:25:11,14:6,5,8,6 2 44071625 138785994 C A 609 off_target VARTYPE=1;BGN=0.00127257;ARL=218;DER=43;DEA=62;QR=35;QA=36;PBP=344;PBM=272;TYPE=SNP;DBXREF=dbSNP:rs4148209,g1000:0.4345,esp5400:0.3176,ExAC:0.4240,GnomAD_AC_exome:104031,GnomAD_AN_exome:243720,GnomAD_AC_genome:11285,GnomAD_AN_genome:30916,GnomAD:0.4199;SGVEP=ABCG8|+|NM_022437|2|c.64-21C>A|.|intronic GT:DP:AD:DP4 0/1:61:34,27:18,16,15,12 2 44071639 138786003 C T 629 off_target VARTYPE=1;BGN=0.00127257;ARL=220;DER=57;DEA=78;QR=37;QA=36;PBP=344;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs4148210,g1000:0.5160,esp5400:0.3923,ExAC:0.4470,clinvar:rs4148210,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:109085,GnomAD_AN_exome:245154,GnomAD_AC_genome:13386,GnomAD_AN_genome:30902,GnomAD:0.4436;SGVEP=ABCG8|+|NM_022437|2|c.64-7C>T|.|intronic GT:DP:AD:DP4 0/1:64:36,28:18,18,15,13 2 44071743 138786043 A G 422 PASS VARTYPE=1;BGN=0.00127257;ARL=221;DER=63;DEA=55;QR=37;QA=36;PBP=191;PBM=239;TYPE=SNP;DBXREF=dbSNP:rs4148211,g1000:0.4347,esp5400:0.3185,ExAC:0.4250,PhyloP:0.8560,SIFT:0.9570,PolyPhen2:0.1910,PolyPhen2_HumDiv:0.3210,LRT:1.0000,MutationTaster:1.0000,GERP:4.1200,clinvar:rs4148211,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:105133,GnomAD_AN_exome:245326,GnomAD_AC_genome:11283,GnomAD_AN_genome:30900,GnomAD:0.4215;SGVEP=ABCG8|+|NM_022437|2|c.161A>G|p.(Tyr54Cys)|missense GT:DP:AD:DP4 0/1:60:40,20:20,20,9,11 2 44079004 138787545 T C 995 off_target VARTYPE=1;BGN=0.00105744;ARL=247;DER=52;DEA=57;QR=35;QA=37;PBP=424;PBM=581;TYPE=SNP;DBXREF=dbSNP:rs4148214,g1000:0.6837,esp5400:0.5969,ExAC:0.6170,GnomAD_AC_exome:148180,GnomAD_AN_exome:241644,GnomAD_AC_genome:18896,GnomAD_AN_genome:30884,GnomAD:0.6131;SGVEP=ABCG8|+|NM_022437|4|c.561+43T>C|.|intronic GT:DP:AD:DP4 0/1:87:45,42:22,23,18,24 2 44101538 138792962 C T 535 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=241;DEA=83;QA=37;PBP=268;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs28517482,g1000:0.7650,esp5400:0.5745,ExAC:0.6730,clinvar:rs28517482,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:166398,GnomAD_AN_exome:246192,GnomAD_AC_genome:20326,GnomAD_AN_genome:30894,GnomAD:0.6739;SGVEP=ABCG8|+|NM_022437|10|c.1412-8C>T|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 44101649 138793075 GCCCCCC GCCCCCCCCC 154 low_coverage;off_target VARTYPE=1;BGN=0.0279329;ARL=239;DER=51;DEA=116;QR=38;QA=97;HL=6;PBP=79;PBM=79;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs3841852,g1000:0.1242,ExAC:0.1880,GnomAD_AC_genome:5356,GnomAD_AN_genome:30634,GnomAD:0.1748;SGVEP=ABCG8|+|NM_022437|10|c.1488+31_1488+33dup|.|intronic GT:DP:AD:DP4 0/1:16:12,4:6,6,2,2 2 44102491 138793505 C T 1309 PASS VARTYPE=1;BGN=0.00153147;ARL=226;DER=76;DEA=64;QR=35;QA=35;PBP=603;PBM=717;TYPE=SNP;DBXREF=dbSNP:rs4148221,g1000:0.1276,esp5400:0.1730,ExAC:0.1490,clinvar:rs4148221,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:36169,GnomAD_AN_exome:245956,GnomAD_AC_genome:4959,GnomAD_AN_genome:30906,GnomAD:0.1486;SGVEP=ABCG8|+|NM_022437|11|c.1695C>T|p.(Ala565:)|synonymous GT:DP:AD:DP4 0/1:119:60,59:28,32,27,32 2 44104610 138793954 ACT A 349 off_target VARTYPE=1;BGN=0.000878683;ARL=249;DER=53;DEA=29;QR=35;QA=68;PBP=176;PBM=178;TYPE=INDEL;DBXREF=dbSNP:rs398060139,g1000:0.1781,GnomAD_AC_genome:8114,GnomAD_AN_genome:30642,GnomAD:0.2648;SGVEP=ABCG8|+|NM_022437|12|c.1757-87_1757-86del|.|intronic GT:DP:AD:DP4 0/1:29:15,14:8,7,7,7 2 44104925 138797473 T C 10000 PASS VARTYPE=1;BGN=0.00105744;ARL=229;DEA=98;QA=37;PBP=1896;PBM=1749;TYPE=SNP;DBXREF=dbSNP:rs6544718,g1000:0.9229,esp5400:0.8386,ExAC:0.8420,PhyloP:-0.2250,SIFT:0.1070,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.2780,MutationTaster:0.0000,GERP:0.0541,clinvar:rs6544718,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:207164,GnomAD_AN_exome:246216,GnomAD_AC_genome:26261,GnomAD_AN_genome:30876,GnomAD:0.8424;SGVEP=ABCG8|+|NM_022437|13|c.1895T>C|p.(Val632Ala)|missense GT:DP:AD:DP4 1/1:123:0,123:0,0,64,59 2 44126747 126912 G A 574 PASS VARTYPE=1;BGN=0.00127257;ARL=227;DER=47;DEA=57;QR=37;QA=36;PBP=291;PBM=291;TYPE=SNP;DBXREF=dbSNP:rs35113761,g1000:0.0196,esp5400:0.0284,ExAC:0.0300,clinvar:rs35113761,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:7525,GnomAD_AN_exome:243982,GnomAD_AC_genome:856,GnomAD_AN_genome:30950,GnomAD:0.0305;SGVEP=LRPPRC|-|NM_133259|33|c.3570-3C>T|.|intronic GT:DP:AD:DP4 0/1:64:38,26:19,19,13,13 2 44172636 138811728 T C 246 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=263;DER=29;DEA=83;QR=36;QA=36;PBP=127;PBM=124;TYPE=SNP;DBXREF=dbSNP:rs13022151,g1000:0.1038,GnomAD_AC_genome:2719,GnomAD_AN_genome:30922,GnomAD:0.0879;SGVEP=LRPPRC|-|NM_133259|22|c.2211-80A>G|.|intronic GT:DP:AD:DP4 0/1:17:7,10:3,4,5,5 2 44174968 138812195 T A 603 off_target VARTYPE=1;BGN=0.000878683;ARL=207;DER=54;DEA=33;QR=37;QA=38;PBP=305;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs35768060,g1000:0.0503,esp5400:0.0491,GnomAD_AC_genome:1409,GnomAD_AN_genome:30914,GnomAD:0.0456;SGVEP=LRPPRC|-|NM_133259|19|c.1921-54A>T|.|intronic GT:DP:AD:DP4 0/1:30:8,22:4,4,11,11 2 44187829 138814256 A C 297 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=230;DEA=57;QA=37;PBP=149;PBM=149;TYPE=SNP;DBXREF=dbSNP:rs10190161,g1000:0.5306,GnomAD_AC_genome:21327,GnomAD_AN_genome:30896,GnomAD:0.6903;SGVEP=LRPPRC|-|NM_133259|13|c.1489-56T>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 44209477 126966 C T 1522 PASS VARTYPE=1;BGN=0.000878683;ARL=194;DEA=87;QA=38;PBP=762;PBM=762;TYPE=SNP;DBXREF=dbSNP:rs6741066,g1000:0.5040,esp5400:0.7253,ExAC:0.6240,clinvar:rs6741066,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:152519,GnomAD_AN_exome:245918,GnomAD_AC_genome:20958,GnomAD_AN_genome:30908,GnomAD:0.6267;SGVEP=LRPPRC|-|NM_133259|2|c.246G>A|p.(Gln82:)|synonymous GT:DP:AD:DP4 1/1:50:0,50:0,0,25,25 2 44502788 138886289 A C 1875 PASS VARTYPE=1;BGN=0.00105744;ARL=222;DER=94;DEA=95;QR=37;QA=37;PBP=959;PBM=931;TYPE=SNP;DBXREF=dbSNP:rs3738985,g1000:0.7035,esp5400:0.7810,ExAC:0.7320,PhyloP:-0.2200,MutationTaster:0.0000,GERP:0.7610,clinvar:rs3738985,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:177595,GnomAD_AN_exome:245372,GnomAD_AC_genome:22715,GnomAD_AN_genome:30898,GnomAD:0.7251;SGVEP=SLC3A1|+|NM_000341|1|c.114A>C|p.(Gly38:)|synonymous GT:DP:AD:DP4 0/1:131:55,76:31,24,39,37 2 44531484 138890028 C T 868 off_target VARTYPE=1;BGN=0.00105744;ARL=246;DER=82;DEA=78;QR=34;QA=37;PBP=442;PBM=435;TYPE=SNP;DBXREF=dbSNP:rs3738984,g1000:0.5419,esp5400:0.6303,ExAC:0.6090,clinvar:rs3738984,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:148387,GnomAD_AN_exome:245422,GnomAD_AC_genome:18344,GnomAD_AN_genome:30910,GnomAD:0.6034;SGVEP=SLC3A1|+|NM_000341|7|c.1332+7C>T|.|intronic GT:DP:AD:DP4 0/1:70:34,36:16,18,18,18 2 44547574 138894405 G A 1652 PASS VARTYPE=1;BGN=0.00105744;ARL=219;DER=109;DEA=97;QR=37;QA=37;PBP=821;PBM=845;TYPE=SNP;DBXREF=dbSNP:rs698761,g1000:0.4609,esp5400:0.5417,ExAC:0.5960,PhyloP:0.1400,SIFT:0.6740,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:0.9400,MutationTaster:0.0000,GERP:-1.3700,clinvar:rs698761,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:145335,GnomAD_AN_exome:244082,GnomAD_AC_genome:16144,GnomAD_AN_genome:30906,GnomAD:0.5872;SGVEP=SLC3A1|+|NM_000341|10|c.1854G>A|p.(Met618Ile)|missense GT:DP:AD:DP4 0/1:134:65,69:32,33,34,35 2 44548613 138894941 T C 335 off_target VARTYPE=1;BGN=0.00105744;ARL=199;DER=59;DEA=28;QR=38;QA=37;PBP=170;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs2241871,g1000:0.6246,esp5400:0.7107,ExAC:0.6400,GnomAD_AC_exome:151234,GnomAD_AN_exome:237428,GnomAD_AC_genome:20448,GnomAD_AN_genome:30902,GnomAD:0.6398;SGVEP=PREPL|-|NM_001042385|13|c.1909-29A>G|.|intronic GT:DP:AD:DP4 0/1:30:16,14:8,8,7,7 2 44556298 138897271 T C 370 off_target VARTYPE=1;BGN=0.00105744;ARL=237;DER=59;DEA=34;QR=36;QA=37;PBP=176;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs2033951,g1000:0.6320,esp5400:0.7609,ExAC:0.7020,GnomAD_AC_exome:149714,GnomAD_AN_exome:212868,GnomAD_AC_genome:21817,GnomAD_AN_genome:30932,GnomAD:0.7036;SGVEP=PREPL|-|NM_001042385|8|c.1168-47A>G|.|intronic GT:DP:AD:DP4 0/1:28:13,15:6,7,7,8 2 44565447 138900240 A T 183 off_target VARTYPE=1;BGN=0.00105744;ARL=241;DER=47;DEA=54;QR=37;QA=37;PBP=94;PBM=94;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2289463,g1000:0.6106,esp5400:0.6979,ExAC:0.6290,GnomAD_AC_exome:134314,GnomAD_AN_exome:212752,GnomAD_AC_genome:20126,GnomAD_AN_genome:30878,GnomAD:0.6339;SGVEP=PREPL|-|NM_001042385|6|c.969+839T>A|.|intronic GT:DP:AD:DP4 0/1:22:14,8:7,7,4,4 2 44569474 138900952 G A 149 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=246;DER=32;DEA=46;QR=35;QA=37;PBP=76;PBM=76;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2304769,g1000:0.6643,GnomAD_AC_genome:21708,GnomAD_AN_genome:30864,GnomAD:0.7033;SGVEP=PREPL|-|NM_001042385|5|c.752+82C>T|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 2 44569700 138901076 AAAT A 654 off_target VARTYPE=1;BGN=0.000878683;ARL=211;DER=33;DEA=63;QR=37;QA=113;PBP=319;PBM=343;TYPE=INDEL;DBXREF=dbSNP:rs796929296,g1000:0.5651,ExAC:0.6220,GnomAD_AC_exome:142656,GnomAD_AN_exome:231430,GnomAD_AC_genome:17906,GnomAD_AN_genome:29742,GnomAD:0.6148;SGVEP=PREPL|-|NM_001042385|5|c.617-12_617-10del|.|intronic GT:DP:AD:DP4 0/1:60:33,27:16,17,13,14 2 44570804 138901238 C A 197 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=256;DER=68;DEA=40;QR=36;QA=37;PBP=101;PBM=101;TYPE=SNP;DBXREF=dbSNP:rs12053381,g1000:0.5881,GnomAD_AC_genome:19468,GnomAD_AN_genome:30862,GnomAD:0.6308;SGVEP=PREPL|-|NM_001042385|4|c.616+80G>T|.|intronic GT:DP:AD:DP4 0/1:16:8,8:4,4,4,4 2 44617324 138908726 T A 193 off_target VARTYPE=1;BGN=0.000878683;ARL=238;DER=62;DEA=77;QR=36;QA=38;PBP=99;PBM=99;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1085486,g1000:0.6436,esp5400:0.7336,GnomAD_AC_genome:20766,GnomAD_AN_genome:30862,GnomAD:0.6729;SGVEP=CAMKMT|+|NM_024766|3|c.312-56T>A|.|intronic GT:DP:AD:DP4 0/1:20:12,8:6,6,4,4 2 45171842 127010 A G 10000 PASS VARTYPE=1;BGN=0.00105744;ARL=222;DEA=97;QA=37;PBP=1985;PBM=2014;TYPE=SNP;DBXREF=dbSNP:rs338074,g1000:0.9375,esp5400:0.9361,ExAC:0.9170,clinvar:rs338074,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:194111,GnomAD_AN_exome:209978,GnomAD_AC_genome:28901,GnomAD_AN_genome:30796,GnomAD:0.9262;SGVEP=SIX3|+|NM_005413|2|c.942A>G|p.(Ala314:)|synonymous GT:DP:AD:DP4 1/1:135:0,135:0,0,67,68 2 46583187 139243564 A T 142 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=268;DER=54;DEA=89;QR=37;QA=38;PBP=99;PBM=48;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2278754,GnomAD_AC_genome:4356,GnomAD_AN_genome:30858,GnomAD:0.1412;SGVEP=EPAS1|+|NM_001430|3|c.218-103A>T|.|intronic GT:DP:AD:DP4 0/1:17:11,6:6,5,4,2 2 46583235 139243568 C A 920 off_target VARTYPE=1;BGN=0.00105744;ARL=229;DEA=70;QA=37;PBP=446;PBM=476;TYPE=SNP;DBXREF=dbSNP:rs6743991,g1000:0.7370,GnomAD_AC_genome:19552,GnomAD_AN_genome:30842,GnomAD:0.6339;SGVEP=EPAS1|+|NM_001430|3|c.218-55C>A|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,15,16 2 46583277 139243613 C CCG 708 off_target VARTYPE=1;BGN=0.000878683;ARL=226;DER=78;DEA=97;QR=36;QA=74;PBP=361;PBM=354;TYPE=INDEL;DBXREF=dbSNP:rs61586942;SGVEP=EPAS1|+|NM_001430|3|c.218-12_218-11insGC|.|intronic GT:DP:AD:DP4 0/1:52:24,28:11,13,14,14 2 46583279 139243624 C T 680 off_target VARTYPE=1;BGN=0.000878683;ARL=226;DER=80;DEA=104;QR=37;QA=38;PBP=361;PBM=327;TYPE=SNP;DBXREF=dbSNP:rs75591953,g1000:0.0595,esp5400:0.0991,clinvar:rs75591953,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:5183,GnomAD_AN_exome:171108,GnomAD_AC_genome:1510,GnomAD_AN_genome:27082,GnomAD:0.0338;SGVEP=EPAS1|+|NM_001430|3|c.218-11C>T|.|intronic GT:DP:AD:DP4 0/1:51:24,27:11,13,14,13 2 46583281 139243637 C T 690 off_target VARTYPE=1;BGN=0.000878683;ARL=226;DER=39;DEA=106;QR=27;QA=38;PBP=372;PBM=327;TYPE=SNP;DBXREF=dbSNP:rs75984373,g1000:0.0663,esp5400:0.1731,ExAC:0.3920,clinvar:rs75984373,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:13589,GnomAD_AN_genome:28688,GnomAD:0.4737;SGVEP=EPAS1|+|NM_001430|3|c.218-9C>T|.|intronic GT:DP:AD:DP4 0/1:48:6,27:6,0,14,13 2 46583281 139243640 C CT 238 off_target VARTYPE=1;BGN=0.00266922;ARL=226;DER=39;DEA=74;QR=27;QA=32;PBP=27;PBM=236;SP=24;TYPE=INDEL;DBXREF=dbSNP:rs35508970,g1000:0.7075,ExAC:0.1990,clinvar:rs35508970,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:5086,GnomAD_AN_genome:28688,GnomAD:0.1773;SGVEP=EPAS1|+|NM_001430|3|c.218-9_218-8insT|.|intronic GT:DP:AD:DP4 0/1:52:9,14:9,0,2,12 2 46603663 139247275 T C 405 off_target VARTYPE=1;BGN=0.00127257;ARL=222;DER=51;DEA=57;QR=37;QA=36;PBP=216;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs116510029,g1000:0.0156,esp5400:0.0297,ExAC:0.0230,clinvar:rs116510029,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:5728,GnomAD_AN_exome:246084,GnomAD_AC_genome:641,GnomAD_AN_genome:30940,GnomAD:0.0230;SGVEP=EPAS1|+|NM_001430|9|c.1035-15T>C|.|intronic GT:DP:AD:DP4 0/1:55:36,19:19,17,10,9 2 46605287 139247881 A G 377 off_target VARTYPE=1;BGN=0.00105744;ARL=242;DER=66;DEA=39;QR=35;QA=37;PBP=181;PBM=203;TYPE=SNP;DBXREF=dbSNP:rs17035085,g1000:0.1120,GnomAD_AC_genome:3107,GnomAD_AN_genome:30932,GnomAD:0.1004;SGVEP=EPAS1|+|NM_001430|10|c.1443+61A>G|.|intronic GT:DP:AD:DP4 0/1:49:32,17:15,17,8,9 2 46607719 139248646 T C 1215 PASS VARTYPE=1;BGN=0.00153147;ARL=237;DER=110;DEA=99;QR=36;QA=35;PBP=604;PBM=622;TYPE=SNP;DBXREF=dbSNP:rs35606117,g1000:0.0158,esp5400:0.0302,ExAC:0.0230,clinvar:rs35606117,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:5810,GnomAD_AN_exome:246194,GnomAD_AC_genome:645,GnomAD_AN_genome:30870,GnomAD:0.0233;SGVEP=EPAS1|+|NM_001430|12|c.1908T>C|p.(Asn636:)|synonymous GT:DP:AD:DP4 0/1:134:76,57:37,39,28,29 2 47596853 139450016 CGG CGGG 134 low_coverage;off_target VARTYPE=1;BGN=0.0131144;ARL=279;DER=97;DEA=53;QR=36;QA=37;HL=2;PBP=33;PBM=105;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs144077629,g1000:0.1380,ExAC:0.0440,GnomAD_AC_exome:14423,GnomAD_AN_exome:137838,GnomAD_AC_genome:2967,GnomAD_AN_genome:30922,GnomAD:0.1030;SGVEP=EPCAM|+|NM_002354|1|c.76+135dupG|.|intronic GT:DP:AD:DP4 1/1:10:2,8:1,1,2,6 2 47601106 127099 T C 2022 PASS VARTYPE=1;BGN=0.00105744;ARL=213;DER=95;DEA=75;QR=36;QA=37;PBP=1034;PBM=1004;TYPE=SNP;DBXREF=dbSNP:rs1126497,g1000:0.6661,esp5400:0.5688,ExAC:0.5200,PhyloP:0.1600,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9700,MutationTaster:0.0000,GERP:1.7100,clinvar:rs1126497,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:126143,GnomAD_AN_exome:246198,GnomAD_AC_genome:18629,GnomAD_AN_genome:30878,GnomAD:0.5225;SGVEP=EPCAM|+|NM_002354|3|c.344T>C|p.(Met115Thr)|missense GT:DP:AD:DP4 0/1:168:83,85:41,42,43,42 2 47601257 139451363 T C 187 off_target VARTYPE=1;BGN=0.000878683;ARL=242;DER=47;DEA=38;QR=38;QA=38;PBP=97;PBM=95;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4399765,g1000:0.1420,GnomAD_AC_genome:3756,GnomAD_AN_genome:30940,GnomAD:0.1214;SGVEP=EPCAM|+|NM_002354|3|c.425+70T>C|.|intronic GT:DP:AD:DP4 0/1:23:15,8:7,8,4,4 2 47630550 127390 C G 505 off_target VARTYPE=1;BGN=0.00105744;ARL=249;DER=92;DEA=54;QR=35;QA=37;PBP=258;PBM=254;TYPE=SNP;DBXREF=dbSNP:rs2303426,g1000:0.6284,esp5400:0.4766,ExAC:0.4550,clinvar:rs2303426,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:98964,GnomAD_AN_exome:208980,GnomAD_AC_genome:17186,GnomAD_AN_genome:30860,GnomAD:0.4843;SGVEP=MSH2|+|NM_000251|1|c.211+9C>G|.|intronic GT:DP:AD:DP4 0/1:54:32,22:15,17,11,11 2 47672569 127943 G A 160 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=280;DER=99;DEA=59;QR=38;QA=38;PBP=82;PBM=82;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1981929,g1000:0.7947,clinvar:rs1981929,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_genome:22532,GnomAD_AN_genome:30930,GnomAD:0.7285;SGVEP=MSH2|+|NM_000251|8|c.1277-118G>A|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 2 48010488 128737 G A 680 PASS VARTYPE=1;BGN=0.00127257;ARL=230;DER=98;DEA=108;QR=35;QA=36;PBP=332;PBM=355;TYPE=SNP;DBXREF=dbSNP:rs1042821,g1000:0.2009,esp5400:0.1818,ExAC:0.1780,PhyloP:0.8380,SIFT:0.9640,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0020,LRT:0.5490,MutationTaster:1.0000,GERP:2.6300,clinvar:rs1042821,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:41416,GnomAD_AN_exome:228246,GnomAD_AC_genome:5861,GnomAD_AN_genome:30796,GnomAD:0.1825;SGVEP=MSH6|+|NM_000179|1|c.116G>A|p.(Gly39Glu)|missense GT:DP:AD:DP4 0/1:56:27,29:13,14,14,15 2 48010558 128761 C A 435 PASS VARTYPE=1;BGN=0.00153147;ARL=217;DER=104;DEA=90;QR=35;QA=35;PBP=280;PBM=163;TYPE=SNP;DBXREF=dbSNP:rs1042820,g1000:0.0691,esp5400:0.1144,ExAC:0.0980,clinvar:rs1042820,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:15976,GnomAD_AN_exome:111050,GnomAD_AC_genome:3499,GnomAD_AN_genome:30748,GnomAD:0.1373;SGVEP=MSH6|+|NM_000179|1|c.186C>A|p.(Arg62:)|synonymous GT:DP:AD:DP4 0/1:58:37,21:19,18,13,8 2 48010654 128789 C G 328 off_target VARTYPE=1;BGN=0.00184304;ARL=193;DER=67;DEA=64;QR=32;QA=34;PBP=178;PBM=156;TYPE=SNP;DBXREF=dbSNP:rs55927047,g1000:0.0689,esp5400:0.0885,ExAC:0.0620,clinvar:rs55927047,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:3934,GnomAD_AN_exome:28876,GnomAD_AC_genome:3432,GnomAD_AN_genome:29712,GnomAD:0.1257;SGVEP=MSH6|+|NM_000179|1|c.260+22C>G|.|intronic GT:DP:AD:DP4 0/1:30:15,15:8,7,8,7 2 48018081 128811 A G 901 PASS VARTYPE=1;BGN=0.00105744;ARL=218;DER=93;DEA=50;QR=37;QA=37;PBP=454;PBM=456;TYPE=SNP;DBXREF=dbSNP:rs1800932,g1000:0.0867,esp5400:0.1665,ExAC:0.1350,clinvar:rs1800932,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:33198,GnomAD_AN_exome:246250,GnomAD_AC_genome:4068,GnomAD_AN_genome:30960,GnomAD:0.1344;SGVEP=MSH6|+|NM_000179|2|c.276A>G|p.(Pro92:)|synonymous GT:DP:AD:DP4 0/1:79:41,38:21,20,19,19 2 48018293 139531023 TTG T 110 low_variant_fraction;off_target VARTYPE=1;BGN=0.000878683;ARL=226;DER=57;DEA=90;QR=36;QA=76;PBP=58;PBM=57;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs769763366,ExAC:0.1280,GnomAD_AC_genome:771,GnomAD_AN_genome:29516,GnomAD:0.0261;SGVEP=MSH6|+|NM_000179|2|c.457+52_457+53del|.|intronic GT:DP:AD:DP4 0/1:53:45,6:22,23,3,3 2 48018314 128852 T A 545 off_target VARTYPE=1;BGN=0.00127257;ARL=233;DER=42;DEA=59;QR=37;QA=36;PBP=263;PBM=289;TYPE=SNP;DBXREF=dbSNP:rs3136282,g1000:0.1855,esp5400:0.3126,ExAC:0.2620,clinvar:rs3136282,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_genome:8746,GnomAD_AN_genome:30724,GnomAD:0.2847;SGVEP=MSH6|+|NM_000179|2|c.457+52T>A|.|intronic GT:DP:AD:DP4 0/1:43:20,23:10,10,11,12 2 48022981 128861 G T 840 off_target VARTYPE=1;BGN=0.00127257;ARL=254;DER=1;DEA=58;QR=32;QA=36;PBP=422;PBM=422;TYPE=SNP;DBXREF=dbSNP:rs1800934,g1000:0.2244,esp5400:0.2309,clinvar:rs1800934,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_genome:6449,GnomAD_AN_genome:30906,GnomAD:0.2087;SGVEP=MSH6|+|NM_000179|3|c.458-52G>T|.|intronic GT:DP:AD:DP4 1/1:32:2,30:1,1,15,15 2 48023115 128887 T C 660 PASS VARTYPE=1;BGN=0.00105744;ARL=217;DER=84;DEA=96;QR=35;QA=37;PBP=336;PBM=332;TYPE=SNP;DBXREF=dbSNP:rs1800935,g1000:0.1352,esp5400:0.2504,ExAC:0.2140,clinvar:rs1800935,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:52613,GnomAD_AN_exome:246110,GnomAD_AC_genome:7050,GnomAD_AN_genome:30902,GnomAD:0.2154;SGVEP=MSH6|+|NM_000179|3|c.540T>C|p.(Asp180:)|synonymous GT:DP:AD:DP4 0/1:86:56,30:27,29,15,15 2 48027755 129527 T C 806 PASS VARTYPE=1;BGN=0.00105744;ARL=231;DER=105;DEA=105;QR=37;QA=37;PBP=434;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs2020912,g1000:0.0040,esp5400:0.0058,ExAC:0.0052,PhyloP:0.4160,SIFT:0.7030,PolyPhen2:0.0650,PolyPhen2_HumDiv:0.1140,LRT:0.9980,MutationTaster:0.0000,GERP:1.9900,clinvar:rs2020912,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:1257,GnomAD_AN_exome:245512,GnomAD_AC_genome:112,GnomAD_AN_genome:30984,GnomAD:0.0050;SGVEP=MSH6|+|NM_000179|4|c.2633T>C|p.(Val878Ala)|missense GT:DP:AD:DP4 0/1:95:59,36:29,30,19,17 2 48030606 129736 A G 425 PASS VARTYPE=1;BGN=0.00105744;ARL=217;DER=99;DEA=105;QR=38;QA=37;PBP=216;PBM=216;TYPE=SNP;DBXREF=dbSNP:rs730881804,ExAC:0.0000,PhyloP:2.1050,SIFT:0.7740,PolyPhen2:0.0850,PolyPhen2_HumDiv:0.0990,LRT:1.0000,MutationTaster:1.0000,GERP:5.5100,clinvar:rs730881804,CLNSIG:Uncertain_significance,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:1,GnomAD_AN_exome:246136,GnomAD:0.0000;SGVEP=MSH6|+|NM_000179|5|c.3220A>G|p.(Met1074Val)|missense GT:DP:AD:DP4 0/1:68:48,20:24,24,10,10 2 48030838 129838 A T 512 off_target VARTYPE=1;BGN=0.000878683;ARL=226;DER=54;DEA=79;QR=38;QA=38;PBP=259;PBM=259;TYPE=SNP;DBXREF=dbSNP:rs2020911,g1000:0.4010,esp5400:0.3130,ExAC:0.4030,clinvar:rs2020911,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:101116,GnomAD_AN_exome:245944,GnomAD_AC_genome:9939,GnomAD_AN_genome:30912,GnomAD:0.4011;SGVEP=MSH6|+|NM_000179|5|c.3438+14A>T|.|intronic GT:DP:AD:DP4 0/1:36:16,20:8,8,10,10 2 48032874 129938 ACTAT A 263 off_target VARTYPE=1;BGN=0.000878683;ARL=230;DER=57;DEA=88;QR=34;QA=142;PBP=149;PBM=120;TYPE=INDEL;DBXREF=dbSNP:rs2234731,g1000:0.7622,ExAC:0.6920,clinvar:rs2234731,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:167729,GnomAD_AN_exome:245196,GnomAD_AC_genome:21681,GnomAD_AN_genome:30692,GnomAD:0.6865;SGVEP=MSH6|+|NM_000179|7|c.3646+35_3646+38del|.|intronic GT:DP:AD:DP4 0/1:28:17,11:8,9,6,5 2 48032908 139536467 A G 148 low_coverage;off_target VARTYPE=1;BGN=0.00221799;ARL=249;DER=73;DEA=61;QR=35;QA=33;PBP=67;PBM=85;SP=0;TYPE=SNP;DBXREF=dbSNP:rs565682904,g1000:0.0030,GnomAD_AC_genome:71,GnomAD_AN_genome:30970,GnomAD:0.0023;SGVEP=MSH6|+|NM_000179|7|c.3646+62A>G|.|intronic GT:DP:AD:DP4 0/1:15:8,7:3,5,3,4 2 48032937 129939 T C 149 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=262;DER=39;DEA=67;QR=37;QA=37;PBP=76;PBM=76;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3136359,g1000:0.8143,clinvar:rs3136359,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_genome:24112,GnomAD_AN_genome:30934,GnomAD:0.7795;SGVEP=MSH6|+|NM_000179|7|c.3646+91T>C|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 2 48033551 130032 C G 943 off_target VARTYPE=1;BGN=0.00105744;ARL=251;DER=95;DEA=123;QR=36;QA=37;PBP=464;PBM=487;TYPE=SNP;DBXREF=dbSNP:rs3136367,g1000:0.8091,esp5400:0.7835,ExAC:0.7420,clinvar:rs3136367,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:180221,GnomAD_AN_exome:245780,GnomAD_AC_genome:23902,GnomAD_AN_genome:30940,GnomAD:0.7377;SGVEP=MSH6|+|NM_000179|9|c.3802-40C>G|.|intronic GT:DP:AD:DP4 0/1:58:21,37:10,11,18,19 2 48040904 139538278 GAAAAAA GAAAAAAA 747 off_target VARTYPE=1;BGN=0.0279329;ARL=215;DER=96;DEA=58;QR=38;QA=37;HL=6;PBP=389;PBM=363;TYPE=INDEL;DBXREF=dbSNP:rs386390132,g1000:0.9125,ExAC:0.9330,GnomAD_AC_exome:229304,GnomAD_AN_exome:245430,GnomAD_AC_genome:29205,GnomAD_AN_genome:30910,GnomAD:0.9355;SGVEP=FBXO11|-|NM_001190274|17|c.2083+25dupT|.|intronic GT:DP:AD:DP4 1/1:54:2,51:1,1,26,25 2 48059471 139543370 AAAAT A 665 off_target VARTYPE=1;BGN=0.000878683;ARL=226;DER=59;DEA=68;QR=37;QA=148;PBP=321;PBM=351;TYPE=INDEL;DBXREF=dbSNP:rs142115222,g1000:0.1609,ExAC:0.2270,GnomAD_AC_exome:51551,GnomAD_AN_exome:218906,GnomAD_AC_genome:6140,GnomAD_AN_genome:30868,GnomAD:0.2310;SGVEP=FBXO11|-|NM_001190274|11|c.1398+13_1398+16del|.|intronic GT:DP:AD:DP4 0/1:56:29,27:15,14,13,14 2 48132925 678224103 G T 926 off_target VARTYPE=1;BGN=0.00153147;ARL=207;DER=82;DEA=62;QR=36;QA=35;PBP=609;PBM=327;TYPE=SNP;DBXREF=dbSNP:rs573680795,GnomAD_AC_genome:6,GnomAD_AN_genome:30040,GnomAD:0.0002;SGVEP=FBXO11|-|NM_001190274|1|c.-66C>A|.|5'UTR GT:DP:AD:DP4 0/1:88:46,42:26,20,27,15 2 48915871 139673315 A G 2220 PASS VARTYPE=1;BGN=0.00105744;ARL=217;DEA=101;QA=37;PBP=1157;PBM=1069;TYPE=SNP;DBXREF=dbSNP:rs11125179,g1000:0.5923,esp5400:0.4964,ExAC:0.6020,clinvar:rs11125179,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:150712,GnomAD_AN_exome:246072,GnomAD_AC_genome:16194,GnomAD_AN_genome:30888,GnomAD:0.6026;SGVEP=LHCGR|-|NM_000233|11|c.1065T>C|p.(Asp355:)|synonymous GT:DP:AD:DP4 1/1:75:0,75:0,0,39,36 2 48921375 139674338 T C 762 PASS VARTYPE=1;BGN=0.000878683;ARL=240;DEA=95;QA=38;PBP=366;PBM=397;TYPE=SNP;DBXREF=dbSNP:rs2293275,g1000:0.5911,esp5400:0.4902,ExAC:0.5920,PhyloP:0.8480,SIFT:0.6540,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0040,LRT:0.9100,MutationTaster:1.0000,GERP:3.9000,clinvar:rs2293275,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:140623,GnomAD_AN_exome:229682,GnomAD_AC_genome:16057,GnomAD_AN_genome:30866,GnomAD:0.6013;SGVEP=LHCGR|-|NM_000233|10|c.935A>G|p.(Asn312Ser)|missense GT:DP:AD:DP4 1/1:25:0,25:0,0,12,13 2 48925746 139675128 C T 523 off_target VARTYPE=1;BGN=0.00105744;ARL=209;DER=45;DEA=48;QR=36;QA=37;PBP=275;PBM=254;TYPE=SNP;DBXREF=dbSNP:rs6755901,g1000:0.7374,esp5400:0.8517,ExAC:0.7650,clinvar:rs6755901,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:185106,GnomAD_AN_exome:245988,GnomAD_AC_genome:24652,GnomAD_AN_genome:30920,GnomAD:0.7575;SGVEP=LHCGR|-|NM_000233|9|c.866+8G>A|.|intronic GT:DP:AD:DP4 0/1:37:16,21:9,7,11,10 2 49189921 130228 C T 1128 PASS VARTYPE=1;BGN=0.00105744;ARL=224;DEA=59;QA=37;PBP=654;PBM=476;TYPE=SNP;DBXREF=dbSNP:rs6166,g1000:0.5927,esp5400:0.5556,ExAC:0.5730,PhyloP:0.1520,SIFT:0.2410,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.9990,MutationTaster:0.0000,GERP:1.5200,clinvar:rs6166,CLNSIG:Benign|drug_response|risk_factor,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:141050,GnomAD_AN_exome:245810,GnomAD_AC_genome:17759,GnomAD_AN_genome:30892,GnomAD:0.5739;SGVEP=FSHR|-|NM_000145|10|c.2039G>A|p.(Ser680Asn)|missense GT:DP:AD:DP4 1/1:38:0,38:0,0,22,16 2 49191041 130242 C T 1630 PASS VARTYPE=1;BGN=0.00105744;ARL=244;DEA=73;QA=37;PBP=772;PBM=861;TYPE=SNP;DBXREF=dbSNP:rs6165,g1000:0.4922,esp5400:0.4512,ExAC:0.5440,PhyloP:0.1500,SIFT:0.7780,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0020,LRT:0.4650,MutationTaster:0.0000,GERP:1.7600,clinvar:rs6165,CLNSIG:Benign|drug_response,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:135838,GnomAD_AN_exome:245580,GnomAD_AC_genome:15052,GnomAD_AN_genome:30824,GnomAD:0.5459;SGVEP=FSHR|-|NM_000145|10|c.919G>A|p.(Ala307Thr)|missense GT:DP:AD:DP4 1/1:55:0,55:0,0,26,29 2 50201110 139890168 A G 1492 PASS VARTYPE=1;BGN=0.000878683;ARL=223;DEA=88;QA=38;PBP=762;PBM=732;TYPE=SNP;DBXREF=dbSNP:rs9636391,g1000:0.8143,ExAC:0.8320,PhyloP:1.1820,MutationTaster:1.0000,GERP:4.6300,GnomAD_AC_exome:121842,GnomAD_AN_exome:143020,GnomAD_AC_genome:25432,GnomAD_AN_genome:30946,GnomAD:0.8466;SGVEP=NRXN1|-|NM_001320156|1|c.29T>C|p.(Leu10Ser)|missense GT:DP:AD:DP4 1/1:49:0,49:0,0,25,24 2 50280338 139904534 G A 488 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=244;DEA=42;QA=38;PBP=244;PBM=244;TYPE=SNP;DBXREF=dbSNP:rs1363049,g1000:0.5873,GnomAD_AC_genome:18749,GnomAD_AN_genome:30868,GnomAD:0.6074;SGVEP=NRXN1|-|NM_001135659|22|c.4248+71C>T|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 2 50692560 130288 A G 689 off_target VARTYPE=1;BGN=0.00105744;ARL=228;DER=45;DEA=53;QR=36;QA=37;PBP=346;PBM=351;TYPE=SNP;DBXREF=dbSNP:rs3213756,g1000:0.3381,esp5400:0.2447,ExAC:0.3110,clinvar:rs3213756,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:72977,GnomAD_AN_exome:225386,GnomAD_AC_genome:8174,GnomAD_AN_genome:30842,GnomAD:0.3167;SGVEP=NRXN1|-|NM_001135659|18|c.3484+20T>C|.|intronic GT:DP:AD:DP4 0/1:72:42,30:22,20,15,15 2 50692819 139977847 T G 336 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=260;DEA=41;QA=38;PBP=153;PBM=183;TYPE=SNP;DBXREF=dbSNP:rs10168838,g1000:0.8994,GnomAD_AC_genome:29501,GnomAD_AN_genome:30904,GnomAD:0.9546;SGVEP=NRXN1|-|NM_001135659|18|c.3365-120A>C|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 2 50758657 139993195 T C 134 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=242;DER=31;DEA=44;QR=38;QA=37;PBP=70;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2066948,g1000:0.8532,GnomAD_AC_genome:27235,GnomAD_AN_genome:30956,GnomAD:0.8798;SGVEP=NRXN1|-|NM_001135659|12|c.2264-89A>G|.|intronic GT:DP:AD:DP4 0/1:19:13,6:6,7,3,3 2 50780219 139996792 T G 275 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=284;DEA=46;QA=38;PBP=92;PBM=183;TYPE=SNP;DBXREF=dbSNP:rs13429627,g1000:0.3069,GnomAD_AC_genome:7676,GnomAD_AN_genome:30914,GnomAD:0.2483;SGVEP=NRXN1|-|NM_001135659|10|c.1441-56A>C|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,3,6 2 54839276 140813980 A G 1630 off_target VARTYPE=1;BGN=0.00105744;ARL=228;DEA=46;QA=37;PBP=891;PBM=743;TYPE=SNP;DBXREF=dbSNP:rs3796014,g1000:0.7502,esp5400:0.8008,ExAC:0.7400,GnomAD_AC_exome:160253,GnomAD_AN_exome:216824,GnomAD_AC_genome:24775,GnomAD_AN_genome:30936,GnomAD:0.7468;SGVEP=SPTBN1|+|NM_003128|4|c.301-22A>G|.|intronic GT:DP:AD:DP4 1/1:55:0,55:0,0,30,25 2 54844790 140815042 C T 338 PASS VARTYPE=1;BGN=0.000878683;ARL=204;DER=95;DEA=108;QR=37;QA=38;PBP=173;PBM=172;TYPE=SNP;DBXREF=dbSNP:rs2229506,g1000:0.1134,esp5400:0.1457,ExAC:0.1430,GnomAD_AC_exome:34709,GnomAD_AN_exome:245836,GnomAD_AC_genome:4041,GnomAD_AN_genome:30952,GnomAD:0.1400;SGVEP=SPTBN1|+|NM_003128|6|c.612C>T|p.(Asp204:)|synonymous GT:DP:AD:DP4 0/1:67:51,16:25,26,8,8 2 54844911 140815145 G A 160 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=261;DER=121;DEA=65;QR=38;QA=38;PBP=82;PBM=82;SP=0;TYPE=SNP;DBXREF=dbSNP:rs72618664,g1000:0.2837,GnomAD_AC_genome:10473,GnomAD_AN_genome:30932,GnomAD:0.3386;SGVEP=SPTBN1|+|NM_003128|6|c.647+86G>A|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 2 54855137 140818464 T C 654 off_target VARTYPE=1;BGN=0.00105744;ARL=268;DER=13;DEA=37;QR=21;QA=37;PBP=327;PBM=327;TYPE=SNP;DBXREF=dbSNP:rs2971887,g1000:0.7566,GnomAD_AC_genome:24879,GnomAD_AN_genome:30914,GnomAD:0.8048;SGVEP=SPTBN1|+|NM_003128|13|c.1645-97T>C|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 2 54858511 140819368 C T 2418 PASS VARTYPE=1;BGN=0.00105744;ARL=230;DER=109;DEA=109;QR=37;QA=37;PBP=1220;PBM=1216;TYPE=SNP;DBXREF=dbSNP:rs1052788,g1000:0.2404,esp5400:0.2292,ExAC:0.3090,GnomAD_AC_exome:78138,GnomAD_AN_exome:246102,GnomAD_AC_genome:8845,GnomAD_AN_genome:30920,GnomAD:0.3140;SGVEP=SPTBN1|+|NM_003128|16|c.3327C>T|p.(Asn1109:)|synonymous GT:DP:AD:DP4 0/1:167:69,98:34,35,49,49 2 54882091 140823288 ACCATCAGTTTCTTTCAAGG A 160 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=255;DER=67;DEA=36;QR=37;QA=719;PBP=82;PBM=82;SP=1;NVF=0.46;TYPE=INDEL;DBXREF=dbSNP:rs372320097,g1000:0.2624,GnomAD_AC_genome:9168,GnomAD_AN_genome:30906,GnomAD:0.2966;SGVEP=SPTBN1|+|NM_003128|28|c.5823-98_5823-80del|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 2 54884870 140823615 C T 359 low_coverage;off_target VARTYPE=1;BGN=0.00153147;ARL=261;DER=4;DEA=37;QR=37;QA=35;PBP=209;PBM=154;TYPE=SNP;DBXREF=dbSNP:rs966003,g1000:0.4569,GnomAD_AC_genome:14549,GnomAD_AN_genome:30902,GnomAD:0.4708;SGVEP=SPTBN1|+|NM_003128|30|c.6047-117C>T|.|intronic GT:DP:AD:DP4 1/1:18:4,14:2,2,8,6 2 54886347 140823762 G A 1565 PASS VARTYPE=1;BGN=0.00127257;ARL=211;DER=101;DEA=112;QR=36;QA=36;PBP=815;PBM=765;TYPE=SNP;DBXREF=dbSNP:rs1052820,g1000:0.2782,esp5400:0.2744,ExAC:0.3270,GnomAD_AC_exome:82534,GnomAD_AN_exome:246246,GnomAD_AC_genome:9908,GnomAD_AN_genome:30854,GnomAD:0.3336;SGVEP=SPTBN1|+|NM_003128|31|c.6300G>A|p.(Pro2100:)|synonymous GT:DP:AD:DP4 0/1:233:157,76:78,79,39,37 2 54893237 140824304 C T 628 off_target VARTYPE=1;BGN=0.00105744;ARL=209;DER=65;DEA=33;QR=37;QA=37;PBP=306;PBM=330;TYPE=SNP;DBXREF=dbSNP:rs3817163,g1000:0.2494,esp5400:0.2422,ExAC:0.3250,GnomAD_AC_exome:79960,GnomAD_AN_exome:237022,GnomAD_AC_genome:9170,GnomAD_AN_genome:30900,GnomAD:0.3327;SGVEP=SPTBN1|+|NM_003128|34|c.6833+12C>T|.|intronic GT:DP:AD:DP4 0/1:62:35,27:17,18,13,14 2 54894649 140824385 G A 366 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=259;DER=10;DEA=55;QR=38;QA=37;PBP=199;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs907136,g1000:0.1350,GnomAD_AC_genome:4576,GnomAD_AN_genome:30878,GnomAD:0.1482;SGVEP=SPTBN1|+|NM_003128|35|c.6834-92G>A|.|intronic GT:DP:AD:DP4 1/1:15:2,13:1,1,7,6 2 55873357 141033057 G C 480 off_target VARTYPE=1;BGN=0.000878683;ARL=227;DER=69;DEA=26;QR=37;QA=38;PBP=228;PBM=259;TYPE=SNP;DBXREF=dbSNP:rs72805494,g1000:0.0272,esp5400:0.0294,ExAC:0.0400,GnomAD_AC_exome:9114,GnomAD_AN_exome:231648,GnomAD_AC_genome:818,GnomAD_AN_genome:30954,GnomAD:0.0378;SGVEP=PNPT1|-|NM_033109|21|c.1738+37C>G|.|intronic GT:DP:AD:DP4 0/1:36:17,19:9,8,9,10 2 55883317 130470 G T 416 low_coverage VARTYPE=1;BGN=0.00105744;ARL=220;DEA=103;QA=37;PBP=208;PBM=208;TYPE=SNP;DBXREF=dbSNP:rs2627765,g1000:0.3566,esp5400:0.4862,ExAC:0.4800,clinvar:rs2627765,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:119348,GnomAD_AN_exome:245512,GnomAD_AC_genome:14979,GnomAD_AN_genome:30766,GnomAD:0.4862;SGVEP=PNPT1|-|NM_033109|17|c.1390C>A|p.(Arg464:)|synonymous GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 55889062 141035365 G A 427 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=216;DEA=46;QA=38;PBP=214;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs782604,g1000:0.8271,esp5400:0.9473,ExAC:0.8950,GnomAD_AC_exome:162002,GnomAD_AN_exome:180146,GnomAD_AC_genome:28739,GnomAD_AN_genome:30936,GnomAD:0.9036;SGVEP=PNPT1|-|NM_033109|14|c.1247+29C>T|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 55894247 130474 T C 818 off_target VARTYPE=1;BGN=0.00105744;ARL=217;DER=47;DEA=73;QR=38;QA=37;PBP=413;PBM=413;TYPE=SNP;DBXREF=dbSNP:rs782637,g1000:0.3261,esp5400:0.4491,ExAC:0.4340,clinvar:rs782637,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:106692,GnomAD_AN_exome:241902,GnomAD_AC_genome:13967,GnomAD_AN_genome:30888,GnomAD:0.4423;SGVEP=PNPT1|-|NM_033109|13|c.1074-19A>G|.|intronic GT:DP:AD:DP4 0/1:50:18,32:9,9,16,16 2 55899228 141039162 A T 434 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=224;DEA=37;QA=36;PBP=203;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs782631,g1000:0.8283,esp5400:0.9493,ExAC:0.8980,GnomAD_AC_exome:181716,GnomAD_AN_exome:201410,GnomAD_AC_genome:28757,GnomAD_AN_genome:30954,GnomAD:0.9058;SGVEP=PNPT1|-|NM_033109|10|c.867-47T>A|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,7,8 2 55900283 141039538 A G 297 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=252;DEA=73;QA=37;PBP=119;PBM=178;TYPE=SNP;DBXREF=dbSNP:rs782629,g1000:0.3267,GnomAD_AC_genome:13988,GnomAD_AN_genome:30850,GnomAD:0.4534;SGVEP=PNPT1|-|NM_033109|9|c.680-69T>C|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,4,6 2 55912120 130487 T C 453 PASS VARTYPE=1;BGN=0.00105744;ARL=214;DER=105;DEA=106;QR=37;QA=37;PBP=228;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs782572,g1000:0.3281,esp5400:0.4466,ExAC:0.4280,PhyloP:0.3670,SIFT:0.8880,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0010,LRT:0.9800,MutationTaster:0.4460,GERP:0.1330,clinvar:rs782572,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:104568,GnomAD_AN_exome:241706,GnomAD_AC_genome:13868,GnomAD_AN_genome:30906,GnomAD:0.4344;SGVEP=PNPT1|-|NM_033109|4|c.361A>G|p.(Ile121Val)|missense GT:DP:AD:DP4 0/1:52:32,20:17,15,10,10 2 55913644 141043556 C A 376 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=200;DER=11;DEA=30;QR=37;QA=37;PBP=193;PBM=187;TYPE=SNP;DBXREF=dbSNP:rs72807624,g1000:0.0270,esp5400:0.0312,GnomAD_AC_genome:810,GnomAD_AN_genome:30978,GnomAD:0.0261;SGVEP=PNPT1|-|NM_033109|3|c.223-65G>T|.|intronic GT:DP:AD:DP4 0/1:19:5,14:2,3,7,7 2 56098272 141083508 G A 1205 off_target VARTYPE=1;BGN=0.00105744;ARL=222;DER=68;DEA=59;QR=37;QA=37;PBP=581;PBM=635;TYPE=SNP;DBXREF=dbSNP:rs45535043,g1000:0.0377,esp5400:0.0551,ExAC:0.0530,clinvar:rs45535043,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:12978,GnomAD_AN_exome:245280,GnomAD_AC_genome:1623,GnomAD_AN_genome:30942,GnomAD:0.0529;SGVEP=EFEMP1|-|NM_001039348|10|c.1001-14C>T|.|intronic GT:DP:AD:DP4 0/1:96:46,50:23,23,24,26 2 56145270 141089468 A G 496 off_target VARTYPE=1;BGN=0.00105744;ARL=256;DER=97;DEA=112;QR=37;QA=37;PBP=254;PBM=248;TYPE=SNP;DBXREF=dbSNP:rs10496056,g1000:0.0841,GnomAD_AC_genome:3017,GnomAD_AN_genome:30912,GnomAD:0.0976;SGVEP=EFEMP1|-|NM_001039348|5|c.130+84T>C|.|intronic GT:DP:AD:DP4 0/1:36:16,20:7,9,10,10 2 58387000 141448602 C T 381 off_target VARTYPE=1;BGN=0.000878683;ARL=214;DER=66;DEA=47;QR=37;QA=38;PBP=193;PBM=193;TYPE=SNP;DBXREF=dbSNP:rs3732136,g1000:0.4447,esp5400:0.3895,GnomAD_AC_genome:13260,GnomAD_AN_genome:30844,GnomAD:0.4299;SGVEP=FANCL|-|NM_001114636|14|c.1108-65G>A|.|intronic GT:DP:AD:DP4 0/1:20:6,14:3,3,7,7 2 58388696 141448956 A G 607 PASS VARTYPE=1;BGN=0.00127257;ARL=212;DEA=85;QA=36;PBP=289;PBM=318;TYPE=SNP;DBXREF=dbSNP:rs848291,g1000:0.7065,esp5400:0.7070,ExAC:0.6480,clinvar:rs848291,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:158013,GnomAD_AN_exome:245400,GnomAD_AC_genome:21535,GnomAD_AN_genome:30872,GnomAD:0.6499;SGVEP=FANCL|-|NM_001114636|12|c.996T>C|p.(Ser332:)|synonymous GT:DP:AD:DP4 1/1:21:0,21:0,0,10,11 2 58390538 141449555 T C 149 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=204;DER=52;DEA=17;QR=37;QA=37;PBP=76;PBM=76;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10445895,g1000:0.0475,esp5400:0.0781,ExAC:0.0700,GnomAD_AC_exome:16583,GnomAD_AN_exome:241810,GnomAD_AC_genome:1959,GnomAD_AN_genome:30870,GnomAD:0.0680;SGVEP=FANCL|-|NM_001114636|9|c.790+31A>G|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 2 58390547 141449569 G A 210 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=200;DER=61;DEA=21;QR=37;QA=38;PBP=107;PBM=107;TYPE=SNP;DBXREF=dbSNP:rs10445896,g1000:0.1204,esp5400:0.1545,ExAC:0.0920,GnomAD_AC_exome:20873,GnomAD_AN_exome:243568,GnomAD_AC_genome:3925,GnomAD_AN_genome:30860,GnomAD:0.0904;SGVEP=FANCL|-|NM_001114636|9|c.790+22C>T|.|intronic GT:DP:AD:DP4 0/1:14:6,8:3,3,4,4 2 58392789 141450015 T C 511 off_target VARTYPE=1;BGN=0.00105744;ARL=247;DER=71;DEA=30;QR=37;QA=37;PBP=286;PBM=231;TYPE=SNP;DBXREF=dbSNP:rs848288,g1000:0.2768,GnomAD_AC_genome:8771,GnomAD_AN_genome:30908,GnomAD:0.2838;SGVEP=FANCL|-|NM_001114636|8|c.706+70A>G|.|intronic GT:DP:AD:DP4 0/1:32:10,20:5,5,11,9 2 58392797 141450026 TTTA T 519 off_target VARTYPE=1;BGN=0.000878683;ARL=244;DER=60;DEA=38;QR=35;QA=111;PBP=291;PBM=234;TYPE=INDEL;DBXREF=dbSNP:rs370127908,g1000:0.2524,GnomAD_AC_genome:8047,GnomAD_AN_genome:30852,GnomAD:0.2608;SGVEP=FANCL|-|NM_001114636|8|c.706+59_706+61del|.|intronic GT:DP:AD:DP4 0/1:34:14,20:7,7,11,9 2 60687959 141805541 A G 3136 PASS VARTYPE=1;BGN=0.00127257;ARL=229;DEA=103;QA=36;PBP=1587;PBM=1558;TYPE=SNP;DBXREF=dbSNP:rs7569946,g1000:0.8301,esp5400:0.7153,ExAC:0.6970,GnomAD_AC_exome:171481,GnomAD_AN_exome:244806,GnomAD_AC_genome:21886,GnomAD_AN_genome:30874,GnomAD:0.7014;SGVEP=BCL11A|-|NM_018014|4|c.2088T>C|p.(Ser696:)|synonymous GT:DP:AD:DP4 1/1:109:0,109:0,0,55,54 2 60780421 141815248 G GGGCGGC 630 off_target VARTYPE=1;BGN=0.000878683;ARL=213;DER=67;DEA=102;QR=36;QA=220;PBP=320;PBM=319;TYPE=INDEL;DBXREF=dbSNP:rs756841789,ExAC:0.0003,GnomAD_AC_exome:121,GnomAD_AN_exome:135852,GnomAD_AC_genome:184,GnomAD_AN_genome:29176,GnomAD:0.0018;SGVEP=BCL11A|-|NM_018014|1|c.-22_-17dup|.|5'UTR GT:DP:AD:DP4 0/1:85:47,28:23,24,14,14 2 61108901 141858870 CCTGA C 407 off_target VARTYPE=1;BGN=0.000878683;ARL=225;DER=60;DEA=62;QR=35;QA=138;PBP=178;PBM=234;TYPE=INDEL;DBXREF=dbSNP:rs557835201,g1000:0.0024,GnomAD_AC_genome:83,GnomAD_AN_genome:30936,GnomAD:0.0027;SGVEP=REL|+|NM_001291746|1|c.-63_-60del|.|5'UTR GT:DP:AD:DP4 0/1:30:14,16:7,7,7,9 2 61121492 141860872 G A 336 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=241;DEA=26;QA=38;PBP=183;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs842644,g1000:0.9754,esp5400:0.9643,ExAC:0.9490,GnomAD_AC_exome:157290,GnomAD_AN_exome:165740,GnomAD_AC_genome:29742,GnomAD_AN_genome:30976,GnomAD:0.9508;SGVEP=REL|+|NM_001291746|3|c.154-40G>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 2 62066927 130533 A G 2515 PASS VARTYPE=1;BGN=0.00105744;ARL=224;DEA=104;QA=37;PBP=1276;PBM=1246;TYPE=SNP;DBXREF=dbSNP:rs4672457,g1000:0.9796,esp5400:0.9787,ExAC:0.9760,clinvar:rs4672457,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:239109,GnomAD_AN_exome:245110,GnomAD_AC_genome:30417,GnomAD_AN_genome:30966,GnomAD:0.9763;SGVEP=FAM161A|-|NM_001201543|3|c.1212T>C|p.(Cys404:)|synonymous GT:DP:AD:DP4 1/1:85:0,85:0,0,43,42 2 62069528 142057283 C T 200 off_target VARTYPE=1;BGN=0.00127257;ARL=233;DER=78;DEA=72;QR=37;QA=36;PBP=103;PBM=103;TYPE=SNP;DBXREF=dbSNP:rs11125896,g1000:0.1921,esp5400:0.2236,ExAC:0.1190,GnomAD_AC_exome:30467,GnomAD_AN_exome:144368,GnomAD_AC_genome:6124,GnomAD_AN_genome:30920,GnomAD:0.2087;SGVEP=FAM161A|-|NM_001201543|2|c.184-33G>A|.|intronic GT:DP:AD:DP4 0/1:40:30,10:15,15,5,5 2 62081012 130540 A C 1690 PASS VARTYPE=1;BGN=0.00105744;ARL=240;DEA=85;QA=37;PBP=861;PBM=832;TYPE=SNP;DBXREF=dbSNP:rs4270331,g1000:0.9794,esp5400:0.9779,ExAC:0.9760,clinvar:rs4270331,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:239254,GnomAD_AN_exome:245250,GnomAD_AC_genome:30407,GnomAD_AN_genome:30958,GnomAD:0.9763;SGVEP=FAM161A|-|NM_001201543|1|c.165T>G|p.(Ala55:)|synonymous GT:DP:AD:DP4 1/1:57:0,57:0,0,29,28 2 62081217 142059412 A G 1011 PASS VARTYPE=1;BGN=0.00127257;ARL=236;DEA=56;QA=36;PBP=492;PBM=521;TYPE=SNP;DBXREF=dbSNP:rs1881616,g1000:0.9794,esp5400:0.9800,ExAC:0.9690,clinvar:rs1881616,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:156103,GnomAD_AN_exome:160138,GnomAD_AC_genome:30401,GnomAD_AN_genome:30950,GnomAD:0.9760;SGVEP=FAM161A|-|NM_001201543|1|c.-41T>C|.|5'UTR GT:DP:AD:DP4 1/1:35:0,35:0,0,17,18 2 62362995 142109299 T C 1030 PASS VARTYPE=1;BGN=0.00127257;ARL=230;DER=104;DEA=74;QR=36;QA=36;PBP=510;PBM=529;TYPE=SNP;DBXREF=dbSNP:rs9096,g1000:0.0459,esp5400:0.0986,ExAC:0.0880,PhyloP:2.3260,MutationTaster:1.0000,GERP:5.7600,GnomAD_AC_exome:21508,GnomAD_AN_exome:246140,GnomAD_AC_genome:2628,GnomAD_AN_genome:30968,GnomAD:0.0871;SGVEP=COMMD1|+|NM_001321781|3|c.294T>C|p.(Asp98:)|synonymous GT:DP:AD:DP4 0/1:75:32,43:15,17,21,22 2 62449763 142124963 T A 1799 PASS VARTYPE=1;BGN=0.00105744;ARL=229;DER=103;DEA=108;QR=36;QA=37;PBP=880;PBM=935;TYPE=SNP;DBXREF=dbSNP:rs78968142,g1000:0.0160,ExAC:0.0086,PhyloP:-0.8300,SIFT:0.5140,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.4560,MutationTaster:0.0010,GERP:-5.3500,GnomAD_AC_exome:2058,GnomAD_AN_exome:246204,GnomAD_AC_genome:512,GnomAD_AN_genome:30970,GnomAD:0.0093;SGVEP=B3GNT2|+|NM_001319075|2|c.408T>A|p.(Asp136Glu)|missense GT:DP:AD:DP4 0/1:175:97,78:49,48,38,40 2 62450669 142125306 A G 141 low_coverage;off_target VARTYPE=1;BGN=0.00184304;ARL=284;DER=19;DEA=12;QR=38;QA=34;PBP=72;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6759249,g1000:0.1382,GnomAD_AC_genome:3773,GnomAD_AN_genome:30960,GnomAD:0.1219;SGVEP=B3GNT2|+|NM_001319075|2|c.*120A>G|.|3'UTR GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 2 63401973 142269271 G A 702 off_target VARTYPE=1;BGN=0.000878683;ARL=236;DEA=72;QA=38;PBP=336;PBM=366;TYPE=SNP;DBXREF=dbSNP:rs2421862,g1000:0.1038,esp5400:0.1643,ExAC:0.1610,clinvar:rs2421862,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:38984,GnomAD_AN_exome:245806,GnomAD_AC_genome:4339,GnomAD_AN_genome:30884,GnomAD:0.1566;SGVEP=WDPCP|-|NM_001042692|9|c.1439-6C>T|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,11,12 2 64126775 142390770 C A 381 off_target VARTYPE=1;BGN=0.00127257;ARL=235;DER=49;DEA=24;QR=37;QA=36;PBP=193;PBM=193;TYPE=SNP;DBXREF=dbSNP:rs78227932,g1000:0.1044,GnomAD_AC_genome:4734,GnomAD_AN_genome:30960,GnomAD:0.1529;SGVEP=VPS54|-|NM_001005739|21|c.2590-60G>T|.|intronic GT:DP:AD:DP4 0/1:30:14,16:7,7,8,8 2 64140301 142392326 A T 203 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=233;DER=31;DEA=37;QR=37;QA=38;PBP=104;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs10207847,g1000:0.6548,esp5400:0.8006,GnomAD_AC_genome:24187,GnomAD_AN_genome:30874,GnomAD:0.7834;SGVEP=VPS54|-|NM_001005739|18|c.2386+56T>A|.|intronic GT:DP:AD:DP4 0/1:16:8,8:4,4,4,4 2 64169737 142397741 G A 566 off_target VARTYPE=1;BGN=0.00105744;ARL=206;DER=25;DEA=32;QR=37;QA=37;PBP=286;PBM=286;TYPE=SNP;DBXREF=dbSNP:rs80187000,g1000:0.0110,esp5400:0.0208,ExAC:0.0140,GnomAD_AC_exome:3268,GnomAD_AN_exome:135148,GnomAD_AC_genome:594,GnomAD_AN_genome:30926,GnomAD:0.0233;SGVEP=VPS54|-|NM_001005739|11|c.1266-42C>T|.|intronic GT:DP:AD:DP4 0/1:34:12,22:6,6,11,11 2 64174664 142398862 G A 174 off_target VARTYPE=1;BGN=0.00153147;ARL=217;DER=52;DEA=29;QR=38;QA=35;PBP=89;PBM=89;SP=0;TYPE=SNP;DBXREF=dbSNP:rs41291181,g1000:0.3021,esp5400:0.1318,ExAC:0.2250,GnomAD_AC_exome:42293,GnomAD_AN_exome:171336,GnomAD_AC_genome:5709,GnomAD_AN_genome:30904,GnomAD:0.2374;SGVEP=VPS54|-|NM_001005739|9|c.1102-40C>T|.|intronic GT:DP:AD:DP4 0/1:20:12,8:6,6,4,4 2 65540905 142635270 C G 1403 PASS VARTYPE=1;BGN=0.00127257;ARL=230;DER=99;DEA=116;QR=35;QA=36;PBP=708;PBM=708;TYPE=SNP;DBXREF=dbSNP:rs8827,g1000:0.3954,esp5400:0.2251,ExAC:0.3460,GnomAD_AC_exome:87634,GnomAD_AN_exome:245986,GnomAD_AC_genome:7848,GnomAD_AN_genome:30866,GnomAD:0.3449;SGVEP=SPRED2|-|NM_001128210|6|c.978G>C|p.(Ala326:)|synonymous GT:DP:AD:DP4 0/1:180:114,66:57,57,33,33 2 65559027 142639419 A G 416 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=229;DEA=36;QA=37;PBP=208;PBM=208;TYPE=SNP;DBXREF=dbSNP:rs2271198,g1000:0.7129,GnomAD_AC_genome:20525,GnomAD_AN_genome:30912,GnomAD:0.6640;SGVEP=SPRED2|-|NM_001128210|4|c.429+94T>C|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 65571889 142641878 G C 1138 PASS VARTYPE=1;BGN=0.00105744;ARL=216;DER=64;DEA=69;QR=37;QA=37;PBP=557;PBM=591;TYPE=SNP;DBXREF=dbSNP:rs61748094,g1000:0.0132,esp5400:0.0191,ExAC:0.0230,PhyloP:2.2810,MutationTaster:1.0000,GERP:4.0900,GnomAD_AC_exome:5709,GnomAD_AN_exome:246160,GnomAD_AC_genome:522,GnomAD_AN_genome:30982,GnomAD:0.0225;SGVEP=SPRED2|-|NM_001128210|2|c.159C>G|p.(Gly53:)|synonymous GT:DP:AD:DP4 0/1:89:42,47:22,20,23,24 2 65571997 142642003 A G 1263 PASS VARTYPE=1;BGN=0.00127257;ARL=218;DER=87;DEA=67;QR=36;QA=36;PBP=611;PBM=663;TYPE=SNP;DBXREF=dbSNP:rs61741513,g1000:0.0132,esp5400:0.0193,ExAC:0.0230,GnomAD_AC_exome:5758,GnomAD_AN_exome:246168,GnomAD_AC_genome:525,GnomAD_AN_genome:30970,GnomAD:0.0227;SGVEP=SPRED2|-|NM_001128210|2|c.51T>C|p.(Val17:)|synonymous GT:DP:AD:DP4 0/1:102:48,54:24,24,26,28 2 66665146 142799699 T C 256 off_target VARTYPE=1;BGN=0.00105744;ARL=256;DER=49;DEA=43;QR=33;QA=37;PBP=118;PBM=144;TYPE=SNP;DBXREF=dbSNP:rs2280334,g1000:0.5653,esp5400:0.6359,GnomAD_AC_genome:18456,GnomAD_AN_genome:30948,GnomAD:0.5964;SGVEP=MEIS1|+|NM_002398|2|c.239+51T>C|.|intronic GT:DP:AD:DP4 0/1:27:16,11:8,8,5,6 2 68882468 143124658 T C 1593 PASS VARTYPE=1;BGN=0.00105744;ARL=231;DER=100;DEA=109;QR=37;QA=37;PBP=814;PBM=793;TYPE=SNP;DBXREF=dbSNP:rs6722313,g1000:0.4523,esp5400:0.3967,ExAC:0.3400,GnomAD_AC_exome:81762,GnomAD_AN_exome:246164,GnomAD_AC_genome:12429,GnomAD_AN_genome:30924,GnomAD:0.3399;SGVEP=PROKR1|+|NM_138964|3|c.942T>C|p.(Phe314:)|synonymous GT:DP:AD:DP4 0/1:179:108,71:55,53,36,35 2 69317925 143165342 G A 950 off_target VARTYPE=1;BGN=0.00105744;ARL=239;DEA=55;QA=37;PBP=476;PBM=476;TYPE=SNP;DBXREF=dbSNP:rs4854546,g1000:0.9429,esp5400:0.9097,GnomAD_AC_genome:28407,GnomAD_AN_genome:30960,GnomAD:0.9175;SGVEP=ANTXR1|+|NM_018153|9|c.643-66G>A|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,16,16 2 69318129 143165376 T G 356 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=231;DEA=55;QA=36;PBP=203;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs4241348,g1000:0.9523,GnomAD_AC_genome:28970,GnomAD_AN_genome:30860,GnomAD:0.9388;SGVEP=ANTXR1|+|NM_018153|9|c.703+78T>G|.|intronic GT:DP:AD:DP4 1/1:15:0,13:0,0,7,6 2 69409029 143175215 C A 403 off_target VARTYPE=1;BGN=0.00105744;ARL=222;DER=74;DEA=34;QR=36;QA=37;PBP=192;PBM=218;TYPE=SNP;DBXREF=dbSNP:rs6749826,g1000:0.5885,esp5400:0.4513,ExAC:0.4820,clinvar:rs6749826,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:117915,GnomAD_AN_exome:245816,GnomAD_AC_genome:13798,GnomAD_AN_genome:30852,GnomAD:0.4761;SGVEP=ANTXR1|+|NM_032208|15|c.1185+16C>A|.|intronic GT:DP:AD:DP4 0/1:37:20,17:10,10,8,9 2 69420596 143177069 T C 160 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=265;DER=12;DEA=98;QR=38;QA=38;PBP=82;PBM=82;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7584057,g1000:0.7121,esp5400:0.4268,ExAC:0.5160,GnomAD_AC_genome:16589,GnomAD_AN_genome:29232,GnomAD:0.5675;SGVEP=ANTXR1|+|NM_032208|17|c.1434+49T>C|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 2 70905099 143356113 T G 832 off_target VARTYPE=1;BGN=0.00105744;ARL=267;DEA=60;QA=37;PBP=386;PBM=446;TYPE=SNP;DBXREF=dbSNP:rs2902577,g1000:0.6530,GnomAD_AC_genome:21166,GnomAD_AN_genome:30868,GnomAD:0.6857;SGVEP=ADD2|-|NM_001185054|12|c.1384-90A>C|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,13,15 2 70906115 143356310 C A 794 off_target VARTYPE=1;BGN=0.00105744;ARL=224;DER=54;DEA=51;QR=35;QA=37;PBP=381;PBM=421;TYPE=SNP;DBXREF=dbSNP:rs2074815,g1000:0.3524,esp5400:0.3331,ExAC:0.2930,GnomAD_AC_exome:64899,GnomAD_AN_exome:221284,GnomAD_AC_genome:9969,GnomAD_AN_genome:30884,GnomAD:0.2969;SGVEP=ADD2|-|NM_001185054|11|c.1126-22G>T|.|intronic GT:DP:AD:DP4 0/1:56:24,32:10,14,15,17 2 70915134 143357324 C G 460 off_target VARTYPE=1;BGN=0.00105744;ARL=208;DER=73;DEA=49;QR=37;QA=37;PBP=235;PBM=231;TYPE=SNP;DBXREF=dbSNP:rs2074820,g1000:0.3427,esp5400:0.2917,ExAC:0.2740,GnomAD_AC_exome:66880,GnomAD_AN_exome:245168,GnomAD_AC_genome:9080,GnomAD_AN_genome:30898,GnomAD:0.2752;SGVEP=ADD2|-|NM_001185054|9|c.948+22G>C|.|intronic GT:DP:AD:DP4 0/1:29:11,18:5,6,9,9 2 70915320 143357383 T A 174 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=235;DER=17;DEA=57;QR=33;QA=36;PBP=74;PBM=104;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7340254,g1000:0.3165,GnomAD_AC_genome:9008,GnomAD_AN_genome:30836,GnomAD:0.2921;SGVEP=ADD2|-|NM_001185054|9|c.850-66A>T|.|intronic GT:DP:AD:DP4 0/1:12:5,7:3,2,3,4 2 70915323 143357389 C T 139 low_coverage;off_target VARTYPE=1;BGN=0.00153147;ARL=226;DER=14;DEA=68;QR=37;QA=35;PBP=71;PBM=71;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7340145,g1000:0.3349,GnomAD_AC_genome:9008,GnomAD_AN_genome:30834,GnomAD:0.2921;SGVEP=ADD2|-|NM_001185054|9|c.850-69G>A|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 2 70917812 143357686 C T 268 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=265;DEA=50;QA=37;PBP=178;PBM=89;TYPE=SNP;DBXREF=dbSNP:rs10084293,g1000:0.7402,GnomAD_AC_genome:23449,GnomAD_AN_genome:30440,GnomAD:0.7703;SGVEP=ADD2|-|NM_001185054|8|c.849+106G>A|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,6,3 2 70931339 143359214 G A 200 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=247;DER=87;DEA=35;QR=36;QA=36;PBP=100;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs2287095,g1000:0.3814,GnomAD_AC_genome:10213,GnomAD_AN_genome:30772,GnomAD:0.3319;SGVEP=ADD2|-|NM_001185054|4|c.322+114C>T|.|intronic GT:DP:AD:DP4 0/1:13:5,8:3,2,4,4 2 70933659 143359667 T A 298 off_target VARTYPE=1;BGN=0.00184304;ARL=253;DER=62;DEA=45;QR=33;QA=34;PBP=119;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs11682965,g1000:0.1817,GnomAD_AC_genome:7593,GnomAD_AN_genome:30842,GnomAD:0.2462;SGVEP=ADD2|-|NM_001185054|3|c.-34-85A>T|.|intronic GT:DP:AD:DP4 0/1:22:9,13:3,6,5,8 2 70995129 143366088 G A 591 off_target VARTYPE=1;BGN=0.00127257;ARL=256;DER=40;DEA=67;QR=37;QA=36;PBP=287;PBM=309;TYPE=SNP;DBXREF=dbSNP:rs2287097,g1000:0.4904,GnomAD_AC_genome:14257,GnomAD_AN_genome:30734,GnomAD:0.4639;SGVEP=ADD2|-|NM_001185055|1|c.-98C>T|.|5'UTR GT:DP:AD:DP4 0/1:32:9,23:4,5,11,12 2 71012604 143367770 G A 1246 PASS VARTYPE=1;BGN=0.00105744;ARL=222;DER=85;DEA=92;QR=37;QA=37;PBP=652;PBM=605;TYPE=SNP;DBXREF=dbSNP:rs7566541,g1000:0.7977,esp5400:0.6780,ExAC:0.6480,clinvar:rs7566541,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:159646,GnomAD_AN_exome:246228,GnomAD_AC_genome:21585,GnomAD_AN_genome:30920,GnomAD:0.6539;SGVEP=FIGLA|-|NM_001004311|3|c.552C>T|p.(His184:)|synonymous GT:DP:AD:DP4 0/1:148:92,56:47,45,29,27 2 71012734 143367828 C G 659 PASS VARTYPE=1;BGN=0.000878683;ARL=233;DER=79;DEA=78;QR=37;QA=38;PBP=334;PBM=333;TYPE=SNP;DBXREF=dbSNP:rs7566476,g1000:0.7630,esp5400:0.6285,ExAC:0.6230,PhyloP:0.7010,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.4450,MutationTaster:0.0000,GERP:3.2400,clinvar:rs7566476,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:153911,GnomAD_AN_exome:246228,GnomAD_AC_genome:20347,GnomAD_AN_genome:30914,GnomAD:0.6288;SGVEP=FIGLA|-|NM_001004311|3|c.422G>C|p.(Ser141Thr)|missense GT:DP:AD:DP4 0/1:101:71,30:35,36,15,15 2 71017516 143368451 A G 912 off_target VARTYPE=1;BGN=0.00127257;ARL=218;DER=58;DEA=54;QR=34;QA=36;PBP=499;PBM=421;TYPE=SNP;DBXREF=dbSNP:rs12713717,g1000:0.4211,esp5400:0.2048,ExAC:0.1430,GnomAD_AC_exome:36417,GnomAD_AN_exome:106238,GnomAD_AC_genome:10466,GnomAD_AN_genome:30760,GnomAD:0.3422;SGVEP=FIGLA|-|NM_001004311|1|c.231+24T>C|.|intronic GT:DP:AD:DP4 0/1:75:36,39:18,18,21,18 2 71058835 143374214 A G 1955 PASS VARTYPE=1;BGN=0.00105744;ARL=203;DEA=55;QA=37;PBP=1009;PBM=950;TYPE=SNP;DBXREF=dbSNP:rs741326,g1000:0.5453,esp5400:0.4351,ExAC:0.4750,PhyloP:-2.8810,SIFT:0.2000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0760,MutationTaster:0.0000,GERP:-9.5700,GnomAD_AC_exome:116543,GnomAD_AN_exome:246150,GnomAD_AC_genome:14287,GnomAD_AN_genome:30876,GnomAD:0.4723;SGVEP=CD207|-|NM_015717|5|c.833T>C|p.(Val278Ala)|missense GT:DP:AD:DP4 1/1:66:0,66:0,0,34,32 2 71062833 143375118 GC GCC 2670 PASS VARTYPE=1;BGN=0.00127257;ARL=234;DER=73;DEA=111;QR=37;QA=36;PBP=1283;PBM=1398;TYPE=INDEL;DBXREF=dbSNP:rs397692276,g1000:1.0000,ExAC:1.0000,clinvar:rs397692276,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:245046,GnomAD_AN_exome:245048,GnomAD_AC_genome:30962,GnomAD_AN_genome:30962,GnomAD:1.0000;SGVEP=CD207|-|NM_015717|1|c.71+2dupG|.|splice_donor_+3 GT:DP:AD:DP4 1/1:96:2,94:1,1,45,49 2 71162996 143386000 A G 624 off_target VARTYPE=1;BGN=0.00105744;ARL=240;DEA=24;QA=37;PBP=386;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs11685700,g1000:0.5304,clinvar:rs11685700,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:18184,GnomAD_AN_genome:30668,GnomAD:0.5929;SGVEP=ATP6V1B1|+|NM_001692|1|.|.|intergenic GT:DP:AD:DP4 1/1:21:0,21:0,0,13,8 2 71163173 130603 C T 10000 PASS VARTYPE=1;BGN=0.00105744;ARL=208;DEA=76;QA=37;PBP=1955;PBM=2014;TYPE=SNP;DBXREF=dbSNP:rs17720303,g1000:0.1585,esp5400:0.1590,ExAC:0.1800,PhyloP:2.2560,SIFT:0.8660,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:4.8900,clinvar:rs17720303,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:45501,GnomAD_AN_exome:246006,GnomAD_AC_genome:5130,GnomAD_AN_genome:30806,GnomAD:0.1829;SGVEP=ATP6V1B1|+|NM_001692|1|c.89C>T|p.(Thr30Ile)|missense GT:DP:AD:DP4 1/1:134:0,134:0,0,66,68 2 71163350 143386157 C T 253 low_coverage;off_target VARTYPE=1;BGN=0.00153147;ARL=280;DEA=42;QA=35;PBP=84;PBM=169;TYPE=SNP;DBXREF=dbSNP:rs72622609,g1000:0.1458,GnomAD_AC_genome:3928,GnomAD_AN_genome:30806,GnomAD:0.1275;SGVEP=ATP6V1B1|+|NM_001692|1|c.118+148C>T|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,3,6 2 71185391 143388839 A C 818 off_target VARTYPE=1;BGN=0.00105744;ARL=273;DER=94;DEA=114;QR=35;QA=37;PBP=417;PBM=408;TYPE=SNP;DBXREF=dbSNP:rs967063,g1000:0.4655,GnomAD_AC_genome:12471,GnomAD_AN_genome:30892,GnomAD:0.4037;SGVEP=ATP6V1B1|+|NM_001692|4|c.274-72A>C|.|intronic GT:DP:AD:DP4 0/1:50:18,32:8,10,16,16 2 71190384 130632 C T 1275 PASS VARTYPE=1;BGN=0.00105744;ARL=210;DER=98;DEA=94;QR=36;QA=37;PBP=604;PBM=683;TYPE=SNP;DBXREF=dbSNP:rs2072462,g1000:0.4375,esp5400:0.3542,ExAC:0.4690,clinvar:rs2072462,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:117280,GnomAD_AN_exome:245882,GnomAD_AC_genome:11759,GnomAD_AN_genome:30800,GnomAD:0.4664;SGVEP=ATP6V1B1|+|NM_001692|10|c.1002C>T|p.(Arg334:)|synonymous GT:DP:AD:DP4 0/1:123:68,55:34,34,26,29 2 71190545 143389777 G A 200 off_target VARTYPE=1;BGN=0.00153147;ARL=252;DER=56;DEA=39;QR=32;QA=35;PBP=103;PBM=103;TYPE=SNP;DBXREF=dbSNP:rs2072463,g1000:0.4383,GnomAD_AC_genome:11795,GnomAD_AN_genome:30826,GnomAD:0.3826;SGVEP=ATP6V1B1|+|NM_001692|10|c.1060+103G>A|.|intronic GT:DP:AD:DP4 0/1:34:24,10:12,12,5,5 2 71191777 143390016 C T 477 off_target VARTYPE=1;BGN=0.00127257;ARL=255;DER=27;DEA=113;QR=35;QA=36;PBP=250;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs2270263,g1000:0.4151,GnomAD_AC_genome:10967,GnomAD_AN_genome:30846,GnomAD:0.3555;SGVEP=ATP6V1B1|+|NM_001692|13|c.1249-89C>T|.|intronic GT:DP:AD:DP4 0/1:29:10,19:6,4,10,9 2 71192257 130640 C A 476 off_target VARTYPE=1;BGN=0.00127257;ARL=219;DER=85;DEA=52;QR=36;QA=36;PBP=255;PBM=229;TYPE=SNP;DBXREF=dbSNP:rs45498896,g1000:0.0044,esp5400:0.0132,ExAC:0.0140,clinvar:rs45498896,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:3276,GnomAD_AN_exome:238434,GnomAD_AC_genome:521,GnomAD_AN_genome:30936,GnomAD:0.0141;SGVEP=ATP6V1B1|+|NM_001692|14|c.*6C>A|.|3'UTR GT:DP:AD:DP4 0/1:74:51,23:25,26,12,11 2 71351487 130646 G A 1867 PASS VARTYPE=1;BGN=0.00105744;ARL=237;DEA=115;QA=37;PBP=950;PBM=920;TYPE=SNP;DBXREF=dbSNP:rs11541017,g1000:0.1825,esp5400:0.2677,ExAC:0.3050,PhyloP:-1.1160,SIFT:0.7520,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0150,LRT:0.6550,MutationTaster:0.0000,GERP:-4.0500,clinvar:rs11541017,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:76185,GnomAD_AN_exome:246200,GnomAD_AC_genome:8419,GnomAD_AN_genome:30910,GnomAD:0.3053;SGVEP=MCEE|-|NM_032601|2|c.227C>T|p.(Ala76Val)|missense GT:DP:AD:DP4 1/1:63:0,63:0,0,32,31 2 71357417 143410815 C A 1357 off_target VARTYPE=1;BGN=0.00127257;ARL=220;DEA=70;QA=36;PBP=665;PBM=694;TYPE=SNP;DBXREF=dbSNP:rs2012479,g1000:0.4637,esp5400:0.6404,GnomAD_AC_genome:16491,GnomAD_AN_genome:30888,GnomAD:0.5339;SGVEP=MCEE|-|NM_032601|1|.|.|intergenic GT:DP:AD:DP4 1/1:47:0,47:0,0,23,24 2 71742736 130678 C T 1357 off_target VARTYPE=1;BGN=0.00105744;ARL=216;DER=63;DEA=61;QR=36;QA=37;PBP=711;PBM=656;TYPE=SNP;DBXREF=dbSNP:rs61104194,g1000:0.0988,esp5400:0.1277,ExAC:0.0810,clinvar:rs61104194,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:18765,GnomAD_AN_exome:245926,GnomAD_AC_genome:3333,GnomAD_AN_genome:30904,GnomAD:0.0798;SGVEP=DYSF|+|NM_001130455|7|c.667-17C>T|.|intronic GT:DP:AD:DP4 0/1:88:34,54:17,17,28,26 2 71747235 143454273 A G 1328 off_target VARTYPE=1;BGN=0.00127257;ARL=220;DEA=57;QA=36;PBP=665;PBM=665;TYPE=SNP;DBXREF=dbSNP:rs11675897,g1000:0.6560,esp5400:0.8306,GnomAD_AC_genome:24283,GnomAD_AN_genome:30944,GnomAD:0.7847;SGVEP=DYSF|+|NM_001130455|10|c.910-73A>G|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,23,23 2 71747432 143454377 G T 492 low_coverage;off_target VARTYPE=1;BGN=0.00184304;ARL=245;DEA=54;QA=34;PBP=246;PBM=246;TYPE=SNP;DBXREF=dbSNP:rs11687223,g1000:0.5637,GnomAD_AC_genome:20333,GnomAD_AN_genome:30886,GnomAD:0.6583;SGVEP=DYSF|+|NM_001130455|10|c.940+94G>T|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 71747851 143454449 T C 1069 off_target VARTYPE=1;BGN=0.00105744;ARL=245;DEA=55;QA=37;PBP=565;PBM=505;TYPE=SNP;DBXREF=dbSNP:rs12713755,g1000:0.6562,GnomAD_AC_genome:24265,GnomAD_AN_genome:30920,GnomAD:0.7848;SGVEP=DYSF|+|NM_001130455|11|c.941-68T>C|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,19,17 2 71747899 130699 G A 1037 off_target VARTYPE=1;BGN=0.00105744;ARL=220;DER=59;DEA=47;QR=36;QA=37;PBP=575;PBM=472;TYPE=SNP;DBXREF=dbSNP:rs12713756,g1000:0.3678,esp5400:0.4905,ExAC:0.4750,clinvar:rs12713756,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:118216,GnomAD_AN_exome:246118,GnomAD_AC_genome:14605,GnomAD_AN_genome:30862,GnomAD:0.4795;SGVEP=DYSF|+|NM_001130455|11|c.941-20G>A|.|intronic GT:DP:AD:DP4 0/1:93:49,44:25,24,24,20 2 71755380 143456038 A G 1926 off_target VARTYPE=1;BGN=0.00105744;ARL=241;DEA=41;QA=37;PBP=1039;PBM=891;TYPE=SNP;DBXREF=dbSNP:rs4852800,g1000:0.6564,esp5400:0.8459,ExAC:0.7260,clinvar:rs4852800,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:163091,GnomAD_AN_exome:222312,GnomAD_AC_genome:24456,GnomAD_AN_genome:30912,GnomAD:0.7406;SGVEP=DYSF|+|NM_001130455|13|c.1184-48A>G|.|intronic GT:DP:AD:DP4 1/1:65:0,65:0,0,35,30 2 71762232 130712 C T 1571 off_target VARTYPE=1;BGN=0.00105744;ARL=207;DEA=68;QA=37;PBP=743;PBM=832;TYPE=SNP;DBXREF=dbSNP:rs4852801,g1000:0.4577,esp5400:0.6232,ExAC:0.5850,clinvar:rs4852801,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:144724,GnomAD_AN_exome:246096,GnomAD_AC_genome:18131,GnomAD_AN_genome:30830,GnomAD:0.5881;SGVEP=DYSF|+|NM_001130455|14|c.1356+13C>T|.|intronic GT:DP:AD:DP4 1/1:53:0,53:0,0,25,28 2 71762310 143457093 A G 683 off_target VARTYPE=1;BGN=0.00105744;ARL=253;DEA=112;QA=37;PBP=327;PBM=357;TYPE=SNP;DBXREF=dbSNP:rs4852802,g1000:0.5377,GnomAD_AC_genome:20331,GnomAD_AN_genome:30874,GnomAD:0.6585;SGVEP=DYSF|+|NM_001130455|15|c.1357-88A>G|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,11,12 2 71780215 130734 T C 10000 PASS VARTYPE=1;BGN=0.00105744;ARL=208;DEA=100;QA=37;PBP=2073;PBM=1985;TYPE=SNP;DBXREF=dbSNP:rs2303596,g1000:0.5755,esp5400:0.7341,ExAC:0.6430,clinvar:rs2303596,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:158164,GnomAD_AN_exome:246178,GnomAD_AC_genome:21380,GnomAD_AN_genome:30886,GnomAD:0.6480;SGVEP=DYSF|+|NM_001130455|20|c.1830T>C|p.(Asp610:)|synonymous GT:DP:AD:DP4 1/1:137:0,137:0,0,70,67 2 71780821 143458341 T C 465 low_coverage;off_target VARTYPE=1;BGN=0.00184304;ARL=276;DEA=43;QA=34;PBP=301;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs2303597,g1000:0.5905,GnomAD_AC_genome:22060,GnomAD_AN_genome:30814,GnomAD:0.7159;SGVEP=DYSF|+|NM_001130455|21|c.1934-116T>C|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,11,6 2 71795152 130756 A T 10000 PASS VARTYPE=1;BGN=0.00105744;ARL=214;DEA=99;QA=37;PBP=2338;PBM=2426;TYPE=SNP;DBXREF=dbSNP:rs2288355,g1000:0.5505,esp5400:0.7188,ExAC:0.6040,clinvar:rs2288355,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:147078,GnomAD_AN_exome:246254,GnomAD_AC_genome:21035,GnomAD_AN_genome:30820,GnomAD:0.6067;SGVEP=DYSF|+|NM_001130455|25|c.2586A>T|p.(Ser862:)|synonymous GT:DP:AD:DP4 1/1:161:0,161:0,0,79,82 2 71796865 143461537 C G 1040 off_target VARTYPE=1;BGN=0.00127257;ARL=262;DEA=67;QA=36;PBP=521;PBM=521;TYPE=SNP;DBXREF=dbSNP:rs10205023,g1000:0.7067,GnomAD_AC_genome:23461,GnomAD_AN_genome:30868,GnomAD:0.7600;SGVEP=DYSF|+|NM_001130455|27|c.2814-85C>G|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,18,18 2 71797176 143461702 A C 416 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=261;DEA=44;QA=37;PBP=238;PBM=178;TYPE=SNP;DBXREF=dbSNP:rs10183967,g1000:0.5321,GnomAD_AC_genome:17780,GnomAD_AN_genome:30870,GnomAD:0.5760;SGVEP=DYSF|+|NM_001130455|27|c.2928+112A>C|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,8,6 2 71826008 143467036 T C 281 low_coverage;off_target VARTYPE=1;BGN=0.00153147;ARL=279;DEA=51;QA=35;PBP=113;PBM=169;TYPE=SNP;DBXREF=dbSNP:rs2303600,g1000:0.4463,GnomAD_AC_genome:14822,GnomAD_AN_genome:30734,GnomAD:0.4823;SGVEP=DYSF|+|NM_001130455|33|c.3705+133T>C|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,4,6 2 71829821 143467822 G T 565 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=247;DEA=57;QA=37;PBP=327;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs1529408,g1000:0.9111,esp5400:0.9598,GnomAD_AC_genome:29467,GnomAD_AN_genome:30944,GnomAD:0.9523;SGVEP=DYSF|+|NM_001130455|36|c.3877-85G>T|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,11,8 2 71838597 130813 C A 2248 PASS VARTYPE=1;BGN=0.00127257;ARL=228;DEA=92;QA=36;PBP=1155;PBM=1098;TYPE=SNP;DBXREF=dbSNP:rs2303606,g1000:0.4495,esp5400:0.4726,ExAC:0.5010,clinvar:rs2303606,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:124055,GnomAD_AN_exome:245934,GnomAD_AC_genome:14594,GnomAD_AN_genome:30842,GnomAD:0.5009;SGVEP=DYSF|+|NM_001130455|38|c.4011C>A|p.(Ile1337:)|synonymous GT:DP:AD:DP4 1/1:78:0,78:0,0,40,38 2 71871039 143474505 A G 217 low_coverage;off_target VARTYPE=1;BGN=0.00127257;ARL=235;DER=43;DEA=77;QR=37;QA=36;PBP=124;PBM=97;SP=0;TYPE=SNP;DBXREF=dbSNP:rs84181,g1000:0.8247,GnomAD_AC_genome:26505,GnomAD_AN_genome:30920,GnomAD:0.8572;SGVEP=DYSF|+|NM_001130455|41|c.4414-56A>G|.|intronic GT:DP:AD:DP4 0/1:17:8,9:4,4,5,4 2 71871236 143474603 A G 335 off_target VARTYPE=1;BGN=0.00105744;ARL=233;DER=33;DEA=78;QR=37;QA=37;PBP=170;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs84182,g1000:0.8383,esp5400:0.8905,ExAC:0.8370,clinvar:rs84182,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:165586,GnomAD_AN_exome:196036,GnomAD_AC_genome:26889,GnomAD_AN_genome:30926,GnomAD:0.8480;SGVEP=DYSF|+|NM_001130455|41|c.4512+43A>G|.|intronic GT:DP:AD:DP4 0/1:30:16,14:8,8,7,7 2 71886100 130829 G A 889 PASS VARTYPE=1;BGN=0.00105744;ARL=220;DER=94;DEA=91;QR=37;QA=37;PBP=424;PBM=475;TYPE=SNP;DBXREF=dbSNP:rs62145939,g1000:0.0074,esp5400:0.0197,ExAC:0.0180,clinvar:rs62145939,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:4475,GnomAD_AN_exome:246240,GnomAD_AC_genome:477,GnomAD_AN_genome:30958,GnomAD:0.0179;SGVEP=DYSF|+|NM_001130455|43|c.4734G>A|p.(Glu1578:)|synonymous GT:DP:AD:DP4 0/1:108:68,40:34,34,19,21 2 71891361 143477062 C T 325 off_target VARTYPE=1;BGN=0.00153147;ARL=230;DER=53;DEA=57;QR=37;QA=35;PBP=201;PBM=130;TYPE=SNP;DBXREF=dbSNP:rs2303599,g1000:0.7448,esp5400:0.8125,ExAC:0.8200,clinvar:rs2303599,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:200888,GnomAD_AN_exome:245944,GnomAD_AC_genome:24689,GnomAD_AN_genome:30906,GnomAD:0.8148;SGVEP=DYSF|+|NM_001130455|45|c.4890-37C>T|.|intronic GT:DP:AD:DP4 0/1:36:21,15:11,10,9,6 2 71901286 143478617 C T 343 off_target VARTYPE=1;BGN=0.00105744;ARL=234;DER=66;DEA=55;QR=38;QA=37;PBP=200;PBM=149;TYPE=SNP;DBXREF=dbSNP:rs2559081,g1000:0.7280,esp5400:0.7792,ExAC:0.8050,clinvar:rs2559081,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:197197,GnomAD_AN_exome:244312,GnomAD_AC_genome:24012,GnomAD_AN_genome:30862,GnomAD:0.8039;SGVEP=DYSF|+|NM_001130455|51|c.5671-41C>T|.|intronic GT:DP:AD:DP4 0/1:27:13,14:7,6,8,6 2 71906171 130867 T C 1199 off_target VARTYPE=1;BGN=0.00127257;ARL=227;DER=70;DEA=53;QR=36;QA=36;PBP=628;PBM=582;TYPE=SNP;DBXREF=dbSNP:rs1863812,g1000:0.8782,esp5400:0.9245,ExAC:0.8850,clinvar:rs1863812,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:217376,GnomAD_AN_exome:245898,GnomAD_AC_genome:28053,GnomAD_AN_genome:30892,GnomAD:0.8867;SGVEP=DYSF|+|NM_001130455|52|c.5771-16T>C|.|intronic GT:DP:AD:DP4 0/1:104:52,52:27,25,27,25 2 73339430 143628553 T G 1731 off_target VARTYPE=1;BGN=0.00127257;ARL=242;DEA=66;QA=36;PBP=954;PBM=780;TYPE=SNP;DBXREF=dbSNP:rs4143146,g1000:0.8814,esp5400:0.8909,ExAC:0.8410,GnomAD_AC_exome:107218,GnomAD_AN_exome:123018,GnomAD_AC_genome:26707,GnomAD_AN_genome:30922,GnomAD:0.8700;SGVEP=RAB11FIP5|-|NM_015470|1|c.431+45A>C|.|intronic GT:DP:AD:DP4 1/1:60:0,60:0,0,33,27 2 73339708 143628646 G A 10000 PASS VARTYPE=1;BGN=0.00127257;ARL=221;DEA=99;QA=36;PBP=2449;PBM=2649;TYPE=SNP;DBXREF=dbSNP:rs1864488,g1000:0.5206,esp5400:0.5690,ExAC:0.6260,GnomAD_AC_exome:140341,GnomAD_AN_exome:215080,GnomAD_AC_genome:17053,GnomAD_AN_genome:30694,GnomAD:0.6404;SGVEP=RAB11FIP5|-|NM_015470|1|c.198C>T|p.(Cys66:)|synonymous GT:DP:AD:DP4 1/1:177:0,177:0,0,85,92 2 73613031 130899 TGGAGGA T 1167 PASS VARTYPE=1;BGN=0.000878683;ARL=224;DER=30;DEA=58;QR=35;QA=205;PBP=578;PBM=597;TYPE=INDEL;DBXREF=dbSNP:rs61156725,g1000:0.7660,ExAC:0.1440,clinvar:rs61156725,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:22800,GnomAD_AN_exome:79474,GnomAD_AC_genome:10781,GnomAD_AN_genome:26780,GnomAD:0.3160;SGVEP=ALMS1|+|NM_015120|1|c.69_74del|p.(Glu27_Glu28del)|inframe_6 GT:DP:AD:DP4 1/1:44:2,40:2,0,20,20 2 73613341 143653463 G A 1572 off_target VARTYPE=1;BGN=0.00153147;ARL=230;DEA=68;QA=35;PBP=675;PBM=899;TYPE=SNP;DBXREF=dbSNP:rs11126399,g1000:0.2512,esp5400:0.2256,ExAC:0.1490,clinvar:rs11126399,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:30933,GnomAD_AN_exome:110818,GnomAD_AC_genome:8520,GnomAD_AN_genome:30814,GnomAD:0.2786;SGVEP=ALMS1|+|NM_015120|1|c.324+21G>A|.|intronic GT:DP:AD:DP4 1/1:56:0,56:0,0,24,32 2 73649928 143657935 G A 1188 off_target VARTYPE=1;BGN=0.000878683;ARL=230;DEA=47;QA=38;PBP=610;PBM=580;TYPE=SNP;DBXREF=dbSNP:rs1881245,g1000:0.3355,GnomAD_AC_genome:11027,GnomAD_AN_genome:30868,GnomAD:0.3572;SGVEP=ALMS1|+|NM_015120|4|c.647-57G>A|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,20,19 2 73651967 143658176 C T 1571 PASS VARTYPE=1;BGN=0.00105744;ARL=230;DEA=97;QA=37;PBP=772;PBM=802;TYPE=SNP;DBXREF=dbSNP:rs3813227,g1000:0.3636,esp5400:0.3891,ExAC:0.2680,PhyloP:-0.2000,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.8670,MutationTaster:0.0000,GERP:0.1850,clinvar:rs3813227,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:64475,GnomAD_AN_exome:242350,GnomAD_AC_genome:11776,GnomAD_AN_genome:30940,GnomAD:0.2790;SGVEP=ALMS1|+|NM_015120|5|c.1174C>T|p.(Arg392Cys)|missense GT:DP:AD:DP4 1/1:53:0,53:0,0,26,27 2 73675669 143660014 T G 10000 PASS VARTYPE=1;BGN=0.00127257;ARL=232;DEA=107;QA=36;PBP=1587;PBM=1731;TYPE=SNP;DBXREF=dbSNP:rs2037814,g1000:0.8722,esp5400:0.8809,ExAC:0.8630,PhyloP:-0.1960,SIFT:0.7290,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.7280,MutationTaster:0.0000,GERP:0.1510,GnomAD_AC_exome:212281,GnomAD_AN_exome:245398,GnomAD_AC_genome:26958,GnomAD_AN_genome:30900,GnomAD:0.8659;SGVEP=ALMS1|+|NM_015120|8|c.2012T>G|p.(Val671Gly)|missense GT:DP:AD:DP4 1/1:115:0,115:0,0,55,60 2 73677833 143660724 A G 2073 PASS VARTYPE=1;BGN=0.00105744;ARL=234;DEA=92;QA=37;PBP=1009;PBM=1069;TYPE=SNP;DBXREF=dbSNP:rs6546836,g1000:0.3383,esp5400:0.3650,ExAC:0.2610,clinvar:rs6546836,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:63814,GnomAD_AN_exome:245938,GnomAD_AC_genome:11038,GnomAD_AN_genome:30728,GnomAD:0.2706;SGVEP=ALMS1|+|NM_015120|8|c.4176A>G|p.(Gln1392:)|synonymous GT:DP:AD:DP4 1/1:70:0,70:0,0,34,36 2 73677898 143660753 G C 1985 PASS VARTYPE=1;BGN=0.00105744;ARL=229;DEA=111;QA=37;PBP=980;PBM=1009;TYPE=SNP;DBXREF=dbSNP:rs6546837,g1000:0.3636,esp5400:0.3890,ExAC:0.2680,PhyloP:-0.2860,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.4600,MutationTaster:0.0000,GERP:-0.1800,clinvar:rs6546837,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:65310,GnomAD_AN_exome:244070,GnomAD_AC_genome:11734,GnomAD_AN_genome:29412,GnomAD:0.2817;SGVEP=ALMS1|+|NM_015120|8|c.4241G>C|p.(Gly1414Ala)|missense GT:DP:AD:DP4 1/1:67:0,67:0,0,33,34 2 73679280 143661200 A G 1424 PASS VARTYPE=1;BGN=0.00105744;ARL=218;DEA=96;QA=37;PBP=713;PBM=713;TYPE=SNP;DBXREF=dbSNP:rs6546838,g1000:0.3588,esp5400:0.3860,ExAC:0.2670,PhyloP:-0.9970,SIFT:0.0000,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0000,LRT:0.0390,MutationTaster:0.0000,GERP:-3.3300,clinvar:rs6546838,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:65186,GnomAD_AN_exome:245650,GnomAD_AC_genome:11626,GnomAD_AN_genome:30796,GnomAD:0.2779;SGVEP=ALMS1|+|NM_015120|8|c.5623A>G|p.(Ile1875Val)|missense GT:DP:AD:DP4 1/1:48:0,48:0,0,24,24 2 73679866 143661402 T C 754 PASS VARTYPE=1;BGN=0.00127257;ARL=215;DER=90;DEA=103;QR=38;QA=36;PBP=393;PBM=365;TYPE=SNP;DBXREF=dbSNP:rs10496192,g1000:0.1036,esp5400:0.1368,ExAC:0.1420,PhyloP:-0.9650,SIFT:0.2120,PolyPhen2:0.0280,PolyPhen2_HumDiv:0.0430,LRT:0.8390,MutationTaster:0.0000,GERP:-5.0900,clinvar:rs10496192,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:35334,GnomAD_AN_exome:243304,GnomAD_AC_genome:3912,GnomAD_AN_genome:30930,GnomAD:0.1431;SGVEP=ALMS1|+|NM_015120|8|c.6209T>C|p.(Ile2070Thr)|missense GT:DP:AD:DP4 1/1:29:2,27:1,1,14,13 2 73679990 143661437 T A 980 PASS VARTYPE=1;BGN=0.00105744;ARL=225;DEA=106;QA=37;PBP=535;PBM=446;TYPE=SNP;DBXREF=dbSNP:rs6724782,g1000:0.3638,esp5400:0.3896,ExAC:0.2690,PhyloP:-1.4840,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.4600,MutationTaster:0.0000,GERP:-5.0600,clinvar:rs6724782,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:65329,GnomAD_AN_exome:244824,GnomAD_AC_genome:11793,GnomAD_AN_genome:30906,GnomAD:0.2797;SGVEP=ALMS1|+|NM_015120|8|c.6333T>A|p.(Ser2111Arg)|missense GT:DP:AD:DP4 1/1:33:0,33:0,0,18,15 2 73680508 143661585 G C 2563 PASS VARTYPE=1;BGN=0.00127257;ARL=230;DEA=96;QA=36;PBP=1299;PBM=1271;TYPE=SNP;DBXREF=dbSNP:rs6546839,g1000:0.3644,esp5400:0.3896,ExAC:0.2690,PhyloP:1.4810,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9980,MutationTaster:0.0000,GERP:5.4900,clinvar:rs6546839,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:65489,GnomAD_AN_exome:245090,GnomAD_AC_genome:11766,GnomAD_AN_genome:30856,GnomAD:0.2800;SGVEP=ALMS1|+|NM_015120|8|c.6851G>C|p.(Arg2284Pro)|missense GT:DP:AD:DP4 1/1:89:0,89:0,0,45,44 2 73717567 143669161 G T 1394 PASS VARTYPE=1;BGN=0.00105744;ARL=221;DEA=96;QA=37;PBP=713;PBM=683;TYPE=SNP;DBXREF=dbSNP:rs2056486,g1000:0.3582,esp5400:0.3845,ExAC:0.2660,PhyloP:-0.1890,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9240,MutationTaster:0.0000,GERP:0.2580,clinvar:rs2056486,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:64709,GnomAD_AN_exome:245736,GnomAD_AC_genome:11646,GnomAD_AN_genome:30918,GnomAD:0.2760;SGVEP=ALMS1|+|NM_015120|10|c.8478G>T|p.(Arg2826Ser)|missense GT:DP:AD:DP4 1/1:47:0,47:0,0,24,23 2 73717656 143669189 A G 1571 PASS VARTYPE=1;BGN=0.00105744;ARL=220;DEA=84;QA=37;PBP=772;PBM=802;TYPE=SNP;DBXREF=dbSNP:rs10193972,g1000:0.3582,esp5400:0.3863,ExAC:0.2660,PhyloP:-0.6900,SIFT:0.5810,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:0.2250,clinvar:rs10193972,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:64713,GnomAD_AN_exome:245656,GnomAD_AC_genome:11643,GnomAD_AN_genome:30920,GnomAD:0.2761;SGVEP=ALMS1|+|NM_015120|10|c.8567A>G|p.(Asn2856Ser)|missense GT:DP:AD:DP4 1/1:53:0,53:0,0,26,27 2 73746923 143672011 C T 1187 PASS VARTYPE=1;BGN=0.00105744;ARL=238;DEA=60;QA=37;PBP=624;PBM=565;TYPE=SNP;DBXREF=dbSNP:rs11884776,g1000:0.2568,esp5400:0.2959,ExAC:0.2170,clinvar:rs11884776,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:52268,GnomAD_AN_exome:245766,GnomAD_AC_genome:8991,GnomAD_AN_genome:30862,GnomAD:0.2214;SGVEP=ALMS1|+|NM_015120|11|c.9558C>T|p.(Thr3186:)|synonymous GT:DP:AD:DP4 1/1:40:0,40:0,0,21,19 2 73761881 143673225 G A 327 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=244;DEA=23;QA=37;PBP=178;PBM=149;TYPE=SNP;DBXREF=dbSNP:rs3738848,g1000:0.3534,GnomAD_AC_genome:11487,GnomAD_AN_genome:30874,GnomAD:0.3721;SGVEP=ALMS1|+|NM_015120|12|c.9779-70G>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 2 73829372 143680280 C T 2613 PASS VARTYPE=1;BGN=0.00105744;ARL=207;DER=65;DEA=69;QR=37;QA=37;PBP=1335;PBM=1289;TYPE=SNP;DBXREF=dbSNP:rs1052162,g1000:0.3417,esp5400:0.3919,ExAC:0.2640,clinvar:rs1052162,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:63801,GnomAD_AN_exome:246096,GnomAD_AC_genome:11162,GnomAD_AN_genome:30744,GnomAD:0.2708;SGVEP=ALMS1|+|NM_015120|20|c.12172C>T|p.(Leu4058:)|synonymous GT:DP:AD:DP4 1/1:90:1,89:0,1,45,44 2 74153905 143717640 C T 297 low_coverage;off_target VARTYPE=1;BGN=0.00105744;ARL=285;DEA=45;QA=37;PBP=208;PBM=89;TYPE=SNP;DBXREF=dbSNP:rs831526,g1000:0.9952,GnomAD_AC_genome:30616,GnomAD_AN_genome:30982,GnomAD:0.9882;SGVEP=DGUOK|+|NM_001318859|1|.|.|intergenic GT:DP:AD:DP4 1/1:10:0,10:0,0,7,3 2 74185876 131067 A T 358 PASS VARTYPE=1;BGN=0.00127257;ARL=212;DER=59;DEA=102;QR=38;QA=36;PBP=170;PBM=193;TYPE=SNP;DBXREF=dbSNP:rs4777,g1000:0.5308,esp5400:0.5663,ExAC:0.5860,clinvar:rs4777,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:144860,GnomAD_AN_exome:246148,GnomAD_AC_genome:18435,GnomAD_AN_genome:30890,GnomAD:0.5894;SGVEP=DGUOK|+|NM_001318859|5|c.*13A>T|.|3'UTR GT:DP:AD:DP4 0/1:28:13,15:6,7,7,8 2 74374884 143742081 G A 508 off_target VARTYPE=1;BGN=0.00127257;ARL=236;DER=94;DEA=65;QR=35;QA=36;PBP=282;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs1667605,g1000:0.3914,esp5400:0.3454,GnomAD_AC_genome:14861,GnomAD_AN_genome:30676,GnomAD:0.4845;SGVEP=BOLA3|-|NM_001035505|1|c.54+64C>T|.|intronic GT:DP:AD:DP4 0/1:29:9,20:5,4,11,9 2 75101454 143834846 T C 1532 PASS VARTYPE=1;BGN=0.00153147;ARL=224;DER=113;DEA=106;QR=35;QA=35;PBP=761;PBM=783;TYPE=SNP;DBXREF=dbSNP:rs2229622,g1000:0.3157,esp5400:0.3121,ExAC:0.2310,GnomAD_AC_exome:54555,GnomAD_AN_exome:246024,GnomAD_AC_genome:9515,GnomAD_AN_genome:30848,GnomAD:0.2314;SGVEP=HK2|+|NM_000189|7|c.753T>C|p.(Asp251:)|synonymous GT:DP:AD:DP4 0/1:158:87,71:43,44,35,36 2 75113572 143836731 G A 361 off_target VARTYPE=1;BGN=0.00105744;ARL=246;DER=33;DEA=42;QR=34;QA=37;PBP=173;PBM=194;TYPE=SNP;DBXREF=dbSNP:rs2306806,g1000:0.4852,esp5400:0.5247,ExAC:0.5610,GnomAD_AC_exome:137526,GnomAD_AN_exome:245994,GnomAD_AC_genome:16256,GnomAD_AN_genome:30814,GnomAD:0.5556;SGVEP=HK2|+|NM_000189|15|c.2036-45G>A|.|intronic GT:DP:AD:DP4 0/1:31:16,15:7,9,7,8 2 75115108 143837397 A G 1515 PASS VARTYPE=1;BGN=0.00105744;ARL=201;DER=95;DEA=104;QR=37;QA=37;PBP=751;PBM=777;TYPE=SNP;DBXREF=dbSNP:rs10194657,g1000:0.5242,esp5400:0.5719,ExAC:0.5900,GnomAD_AC_exome:143686,GnomAD_AN_exome:246194,GnomAD_AC_genome:17679,GnomAD_AN_genome:30866,GnomAD:0.5824;SGVEP=HK2|+|NM_000189|16|c.2298A>G|p.(Leu766:)|synonymous GT:DP:AD:DP4 0/1:141:76,65:38,38,32,33 2 75116627 143837822 C T 1265 off_target VARTYPE=1;BGN=0.00127257;ARL=251;DER=69;DEA=62;QR=36;QA=36;PBP=596;PBM=680;TYPE=SNP;DBXREF=dbSNP:rs4853069,g1000:0.6743,esp5400:0.6638,ExAC:0.5700,GnomAD_AC_exome:117583,GnomAD_AN_exome:200906,GnomAD_AC_genome:20216,GnomAD_AN_genome:30900,GnomAD:0.5945;SGVEP=HK2|+|NM_000189|17|c.2609+22C>T|.|intronic GT:DP:AD:DP4 0/1:121:65,56:29,36,26,30 2 85780268 680859022 C T 651 off_target VARTYPE=1;BGN=0.00127257;ARL=258;DER=106;DEA=69;QR=37;QA=36;PBP=277;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs927828797,GnomAD_AC_genome:2,GnomAD_AN_genome:30976,GnomAD:0.0001;SGVEP=GGCX|-|NM_000821|9|c.1156-75G>A|.|intronic GT:DP:AD:DP4 0/1:56:28,28:14,14,12,16 2 85781318 144968388 T G 3161 PASS VARTYPE=1;BGN=0.00105744;ARL=218;DEA=69;QA=37;PBP=1601;PBM=1571;TYPE=SNP;DBXREF=dbSNP:rs1254896,g1000:0.9966,esp5400:0.9895,ExAC:0.9880,GnomAD_AC_exome:243456,GnomAD_AN_exome:246228,GnomAD_AC_genome:30653,GnomAD_AN_genome:30966,GnomAD:0.9889;SGVEP=GGCX|-|NM_000821|7|c.837A>C|p.(Gly279:)|synonymous GT:DP:AD:DP4 1/1:107:0,107:0,0,54,53 2 85788140 144972769 C T 1335 off_target VARTYPE=1;BGN=0.00105744;ARL=235;DEA=57;QA=37;PBP=624;PBM=713;TYPE=SNP;DBXREF=dbSNP:rs1254898,g1000:0.1645,esp5400:0.2300,ExAC:0.2660,GnomAD_AC_exome:66616,GnomAD_AN_exome:245414,GnomAD_AC_genome:7393,GnomAD_AN_genome:30916,GnomAD:0.2678;SGVEP=GGCX|-|NM_000821|2|c.44-32G>A|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,21,24 2 85788476 144972809 A T 576 off_target VARTYPE=1;BGN=0.00105744;ARL=198;DER=64;DEA=40;QR=35;QA=37;PBP=301;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs78809601,g1000:0.0090,esp5400:0.0173,ExAC:0.0130,GnomAD_AC_exome:3081,GnomAD_AN_exome:149138,GnomAD_AC_genome:596,GnomAD_AN_genome:30402,GnomAD:0.0205;SGVEP=GGCX|-|NM_000821|1|c.43+33T>A|.|intronic GT:DP:AD:DP4 0/1:32:10,22:3,7,11,11 2 85890771 144983584 T G 10000 off_target VARTYPE=1;BGN=0.00105744;ARL=221;DEA=61;QA=37;PBP=2397;PBM=2426;TYPE=SNP;DBXREF=dbSNP:rs893159,g1000:0.9748,esp5400:0.9356,ExAC:0.9290,clinvar:rs893159,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:213170,GnomAD_AN_exome:227598,GnomAD_AC_genome:28847,GnomAD_AN_genome:30854,GnomAD:0.9364;SGVEP=SFTPB|-|NM_000542|8|c.892+16A>C|.|intronic GT:DP:AD:DP4 1/1:163:0,163:0,0,81,82 2 86116169 145009193 A G 235 low_coverage;off_target VARTYPE=1;BGN=0.000878683;ARL=239;DER=30;DEA=58;QR=38;QA=38;PBP=122;PBM=115;TYPE=SNP;DBXREF=dbSNP:rs28364794,g1000:0.5625,clinvar:rs28364794,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:14780,GnomAD_AN_genome:30314,GnomAD:0.4876;SGVEP=ST3GAL5|-|NM_003896|1|.|.|intergenic GT:DP:AD:DP4 1/1:9:1,8:0,1,4,4 2 86683642 145082348 A G 1069 PASS VARTYPE=1;BGN=0.00105744;ARL=185;DEA=90;QA=37;PBP=446;PBM=624;TYPE=SNP;DBXREF=dbSNP:rs2030259,g1000:0.8049,esp5400:0.8017,ExAC:0.7660,PhyloP:0.2460,SIFT:0.1380,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9940,MutationTaster:0.0000,GERP:3.5100,GnomAD_AC_exome:186519,GnomAD_AN_exome:244210,GnomAD_AC_genome:25046,GnomAD_AN_genome:30438,GnomAD:0.7703;SGVEP=KDM3A|+|NM_001146688|6|c.634A>G|p.(Ile212Val)|missense GT:DP:AD:DP4 1/1:36:0,36:0,0,15,21 2 86691250 145083751 G A 1370 PASS VARTYPE=1;BGN=0.000878683;ARL=205;DEA=101;QA=38;PBP=671;PBM=702;TYPE=SNP;DBXREF=dbSNP:rs12714187,g1000:0.8049,esp5400:0.8015,ExAC:0.7660,GnomAD_AC_exome:187625,GnomAD_AN_exome:245532,GnomAD_AC_genome:25420,GnomAD_AN_genome:30914,GnomAD:0.7707;SGVEP=KDM3A|+|NM_001146688|9|c.918G>A|p.(Ala306:)|synonymous GT:DP:AD:DP4 1/1:45:0,45:0,0,22,23 2 86707504 145086006 T C 2721 off_target VARTYPE=1;BGN=0.00105744;ARL=221;DEA=49;QA=37;PBP=1364;PBM=1364;TYPE=SNP;DBXREF=dbSNP:rs4832290,g1000:0.7951,esp5400:0.7949,ExAC:0.7750,GnomAD_AC_exome:186491,GnomAD_AN_exome:240166,GnomAD_AC_genome:25295,GnomAD_AN_genome:30946,GnomAD:0.7812;SGVEP=KDM3A|+|NM_001146688|16|c.2512+19T>C|.|intronic GT:DP:AD:DP4 1/1:92:0,92:0,0,46,46 2 87015633 145116990 T TGA 340 off_target VARTYPE=1;BGN=0.000878683;ARL=221;DER=82;DEA=55;QR=36;QA=72;PBP=172;PBM=175;TYPE=INDEL;DBXREF=dbSNP:rs397771650,g1000:0.8235,ExAC:0.7930,GnomAD_AC_exome:193525,GnomAD_AN_exome:243692,GnomAD_AC_genome:25685,GnomAD_AN_genome:30758,GnomAD:0.7987;SGVEP=CD8A|-|NM_001145873|8|c.656+18_656+19dup|.|intronic GT:DP:AD:DP4 0/1:65:49,16:26,23,8,8 2 88870632 145238539 A T 578 off_target VARTYPE=1;BGN=0.00127257;ARL=234;DEA=26;QA=36;PBP=260;PBM=318;TYPE=SNP;DBXREF=dbSNP:rs4972221,g1000:0.6488,GnomAD_AC_genome:21762,GnomAD_AN_genome:30938,GnomAD:0.7034;SGVEP=EIF2AK3|-|NM_001313915|14|c.2365-73T>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,9,11 2 88874891 131206 C A 1660 PASS VARTYPE=1;BGN=0.00105744;ARL=234;DEA=113;QA=37;PBP=802;PBM=861;TYPE=SNP;DBXREF=dbSNP:rs1805165,g1000:0.7206,esp5400:0.8022,ExAC:0.7020,PhyloP:0.5450,SIFT:0.0000,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0030,LRT:1.0000,MutationTaster:0.0000,GERP:4.9100,clinvar:rs1805165,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:171271,GnomAD_AN_exome:245766,GnomAD_AC_genome:23774,GnomAD_AN_genome:30924,GnomAD:0.7049;SGVEP=EIF2AK3|-|NM_001313915|13|c.1657G>T|p.(Ala553Ser)|missense GT:DP:AD:DP4 1/1:56:0,56:0,0,27,29 2 88882942 131208 T A 1542 off_target VARTYPE=1;BGN=0.00105744;ARL=212;DEA=46;QA=37;PBP=772;PBM=772;TYPE=SNP;DBXREF=dbSNP:rs6750998,g1000:0.2043,esp5400:0.2364,ExAC:0.2540,clinvar:rs6750998,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:61234,GnomAD_AN_exome:245218,GnomAD_AC_genome:6707,GnomAD_AN_genome:30854,GnomAD:0.2461;SGVEP=EIF2AK3|-|NM_001313915|10|c.1310+6A>T|.|intronic GT:DP:AD:DP4 1/1:52:0,52:0,0,26,26 2 88895123 131216 T C 610 PASS VARTYPE=1;BGN=0.000878683;ARL=205;DEA=86;QA=38;PBP=305;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs13045,g1000:0.6490,esp5400:0.7321,ExAC:0.6370,PhyloP:1.6380,SIFT:0.1200,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:6.1600,clinvar:rs13045,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:155042,GnomAD_AN_exome:245728,GnomAD_AC_genome:21728,GnomAD_AN_genome:30864,GnomAD:0.6391;SGVEP=EIF2AK3|-|NM_001313915|3|c.44A>G|p.(Gln15Arg)|missense GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 2 88926729 131221 CCAG C 335 low_variant_fraction VARTYPE=1;BGN=0.000878683;ARL=218;DER=105;DEA=80;QR=35;QA=107;PBP=190;PBM=154;TYPE=INDEL;DBXREF=dbSNP:rs72416210,g1000:0.7965,ExAC:0.4870,clinvar:rs72416210,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:45684,GnomAD_AN_exome:64522,GnomAD_AC_genome:23118,GnomAD_AN_genome:29748,GnomAD:0.7298;SGVEP=EIF2AK3|-|NM_004836|1|c.61_63del|p.(Leu21del)|inframe_3 GT:DP:AD:DP4 0/1:319:289,22:148,141,12,10 2 96780716 145672155 T G 2044 PASS VARTYPE=1;BGN=0.00104216;ARL=228;DER=102;DEA=113;QR=35;QA=37;PBP=1053;PBM=1008;TYPE=SNP;DBXREF=dbSNP:rs2229169,g1000:0.7053,esp5400:0.7032,ExAC:0.6730,GnomAD_AC_exome:162721,GnomAD_AN_exome:242266,GnomAD_AC_genome:20313,GnomAD_AN_genome:30858,GnomAD:0.6701;SGVEP=ADRA2B|-|NM_000682|1|c.1173A>C|p.(Gly391:)|synonymous GT:DP:AD:DP4 0/1:193:105,88:54,51,45,43 2 96780986 145672325 C CTCCTCCTCT 377 low_variant_fraction VARTYPE=1;BGN=0.000865644;ARL=220;DER=85;DEA=118;QR=36;QA=330;PBP=216;PBM=169;TYPE=INDEL;DBXREF=dbSNP:rs34667759,g1000:0.4706,ExAC:0.6040,GnomAD_AC_genome:20696,GnomAD_AN_genome:30462,GnomAD:0.6794;SGVEP=ADRA2B|-|NM_000682|1|c.894_902dup|p.(Glu304_Glu306dup)|inframe_9 GT:DP:AD:DP4 0/1:134:108,20:54,54,11,9 2 96781986 145672758 G C 112 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=277;DER=75;DEA=66;QR=35;QA=36;PBP=46;PBM=70;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3111873,g1000:0.7362,GnomAD_AC_genome:21110,GnomAD_AN_genome:30728,GnomAD:0.6870;SGVEP=ADRA2B|-|NM_000682|1|.|.|intergenic GT:DP:AD:DP4 0/1:14:9,5:4,5,2,3 2 96944553 145686466 G A 747 PASS VARTYPE=1;BGN=0.00125468;ARL=228;DER=85;DEA=106;QR=36;QA=36;PBP=356;PBM=399;TYPE=SNP;DBXREF=dbSNP:rs772175,g1000:0.2460,esp5400:0.2529,ExAC:0.3100,clinvar:rs772175,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:78133,GnomAD_AN_exome:246170,GnomAD_AC_genome:9441,GnomAD_AN_genome:30904,GnomAD:0.3161;SGVEP=SNRNP200|-|NM_014014|37|c.5317C>T|p.(Leu1773:)|synonymous GT:DP:AD:DP4 0/1:85:51,34:24,27,16,18 2 96956315 145692163 T G 1302 off_target VARTYPE=1;BGN=0.00125468;ARL=259;DEA=127;QA=36;PBP=609;PBM=695;TYPE=SNP;DBXREF=dbSNP:rs772176,g1000:0.9972,GnomAD_AC_genome:30724,GnomAD_AN_genome:30952,GnomAD:0.9926;SGVEP=SNRNP200|-|NM_014014|20|c.2554-63A>C|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,21,24 2 97526963 145756595 C T 1079 PASS VARTYPE=1;BGN=0.00104216;ARL=228;DER=106;DEA=108;QR=36;QA=37;PBP=545;PBM=545;TYPE=SNP;DBXREF=dbSNP:rs71427097,g1000:0.0050,esp5400:0.0186,ExAC:0.0190,GnomAD_AC_exome:4651,GnomAD_AN_exome:239356,GnomAD_AC_genome:581,GnomAD_AN_genome:30902,GnomAD:0.0194;SGVEP=SEMA4C|-|NM_017789|15|c.1902G>A|p.(Ala634:)|synonymous GT:DP:AD:DP4 0/1:124:76,48:38,38,24,24 2 97529360 145756837 T A 481 off_target VARTYPE=1;BGN=0.00125468;ARL=254;DER=60;DEA=66;QR=37;QA=36;PBP=267;PBM=220;TYPE=SNP;DBXREF=dbSNP:rs59271006,g1000:0.4241,GnomAD_AC_genome:7678,GnomAD_AN_genome:30892,GnomAD:0.2485;SGVEP=SEMA4C|-|NM_017789|12|c.1443+59A>T|.|intronic GT:DP:AD:DP4 0/1:36:16,20:9,7,11,9 2 98340364 145810032 A C 423 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=248;DEA=52;QA=35;PBP=254;PBM=169;TYPE=SNP;DBXREF=dbSNP:rs6712517,g1000:0.6498,GnomAD_AC_genome:24172,GnomAD_AN_genome:30918,GnomAD:0.7818;SGVEP=ZAP70|+|NM_001079|3|c.-21-115A>C|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,9,6 2 98986510 145860052 T C 896 PASS VARTYPE=1;BGN=0.00104216;ARL=212;DER=83;DEA=82;QR=35;QA=37;PBP=431;PBM=474;TYPE=SNP;DBXREF=dbSNP:rs6727412,g1000:0.0899,esp5400:0.1532,ExAC:0.1350,clinvar:rs6727412,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:32666,GnomAD_AN_exome:245576,GnomAD_AC_genome:3930,GnomAD_AN_genome:30952,GnomAD:0.1323;SGVEP=CNGA3|+|NM_001079878|2|c.72T>C|p.(Asp24:)|synonymous GT:DP:AD:DP4 0/1:106:66,40:31,35,19,21 2 98994309 145861018 T G 286 off_target VARTYPE=1;BGN=0.00125468;ARL=250;DER=54;DEA=69;QR=36;QA=36;PBP=148;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs58990587,g1000:0.0545,esp5400:0.0720,ExAC:0.0450,clinvar:rs58990587,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:8984,GnomAD_AN_exome:181616,GnomAD_AC_genome:1992,GnomAD_AN_genome:30942,GnomAD:0.0516;SGVEP=CNGA3|+|NM_001079878|3|c.215+46T>G|.|intronic GT:DP:AD:DP4 0/1:50:36,14:17,19,7,7 2 99220707 145882833 T C 548 off_target VARTYPE=1;BGN=0.00104216;ARL=221;DER=45;DEA=50;QR=38;QA=37;PBP=280;PBM=273;TYPE=SNP;DBXREF=dbSNP:rs4851144,g1000:0.2552,esp5400:0.2336,GnomAD_AC_genome:7114,GnomAD_AN_genome:30930,GnomAD:0.2300;SGVEP=COA5|-|NM_001008215|2|c.100-53A>G|.|intronic GT:DP:AD:DP4 1/1:25:5,20:2,3,10,10 2 99237792 145883936 C T 315 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=255;DER=26;DEA=49;QR=38;QA=37;PBP=160;PBM=160;TYPE=SNP;DBXREF=dbSNP:rs11892744,g1000:0.2426,GnomAD_AC_genome:6504,GnomAD_AN_genome:30898,GnomAD:0.2105;SGVEP=MGAT4A|-|NM_001160154|13|c.*102G>A|.|3'UTR GT:DP:AD:DP4 0/1:18:6,12:3,3,6,6 2 99272802 145887459 G A 571 off_target VARTYPE=1;BGN=0.000865644;ARL=196;DER=42;DEA=36;QR=38;QA=38;PBP=303;PBM=275;TYPE=SNP;DBXREF=dbSNP:rs11679648,g1000:0.1062,esp5400:0.2127,ExAC:0.2010,GnomAD_AC_exome:47828,GnomAD_AN_exome:237776,GnomAD_AC_genome:5689,GnomAD_AN_genome:30914,GnomAD:0.1992;SGVEP=MGAT4A|-|NM_001160154|4|c.314+13C>T|.|intronic GT:DP:AD:DP4 0/1:47:24,23:12,12,12,11 2 100176775 145975147 A G 358 off_target VARTYPE=1;BGN=0.000865644;ARL=246;DER=45;DEA=74;QR=36;QA=38;PBP=207;PBM=157;TYPE=SNP;DBXREF=dbSNP:rs13008878,g1000:0.1721,esp5400:0.1486,GnomAD_AC_genome:4101,GnomAD_AN_genome:30962,GnomAD:0.1325;SGVEP=AFF3|-|NM_001025108|20|c.3266+52T>C|.|intronic GT:DP:AD:DP4 0/1:26:12,14:7,5,8,6 2 100210074 145978146 G C 982 PASS VARTYPE=1;BGN=0.00104216;ARL=238;DER=110;DEA=111;QR=36;QA=37;PBP=492;PBM=500;TYPE=SNP;DBXREF=dbSNP:rs1047281,g1000:0.1468,esp5400:0.1684,ExAC:0.1820,GnomAD_AC_exome:44224,GnomAD_AN_exome:242840,GnomAD_AC_genome:5201,GnomAD_AN_genome:30788,GnomAD:0.1806;SGVEP=AFF3|-|NM_001025108|14|c.2124C>G|p.(Ser708:)|synonymous GT:DP:AD:DP4 0/1:93:51,42:27,24,21,21 2 100210642 145978386 T C 1320 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DER=115;DEA=96;QR=36;QA=37;PBP=651;PBM=681;TYPE=SNP;DBXREF=dbSNP:rs1047265,g1000:0.1478,esp5400:0.1709,ExAC:0.1830,PhyloP:-2.5140,SIFT:0.5650,PolyPhen2:0.0080,PolyPhen2_HumDiv:0.0020,LRT:0.1390,MutationTaster:0.0000,GERP:-11.7000,GnomAD_AC_exome:44685,GnomAD_AN_exome:245902,GnomAD_AC_genome:5216,GnomAD_AN_genome:30894,GnomAD:0.1803;SGVEP=AFF3|-|NM_001025108|14|c.1556A>G|p.(Asn519Ser)|missense GT:DP:AD:DP4 0/1:108:53,55:27,26,27,28 2 100288931 145986648 G A 171 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=219;DER=33;DEA=16;QR=35;QA=36;PBP=101;PBM=74;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4851222,g1000:0.5992,esp5400:0.5244,GnomAD_AC_genome:17215,GnomAD_AN_genome:30862,GnomAD:0.5578;SGVEP=AFF3|-|NM_001025108|11|c.1218+69C>T|.|intronic GT:DP:AD:DP4 0/1:13:6,7:3,3,4,3 2 100343557 145991526 C T 358 low_coverage VARTYPE=1;BGN=0.00104216;ARL=172;DEA=78;QA=37;PBP=179;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs4851223,g1000:1.0000,ExAC:1.0000,PhyloP:0.8440,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9980,MutationTaster:0.0000,GERP:5.2600,GnomAD_AC_exome:239285,GnomAD_AN_exome:239288,GnomAD_AC_genome:30980,GnomAD_AN_genome:30980,GnomAD:1.0000;SGVEP=AFF3|-|NM_001025108|10|c.1148G>A|p.(Ser383Asn)|missense GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 100454072 145999317 C CT 566 off_target VARTYPE=1;BGN=0.00125468;ARL=235;DER=0;DEA=35;QR=34;QA=36;PBP=290;PBM=280;TYPE=INDEL;DBXREF=dbSNP:rs5832886,g1000:0.6394,GnomAD_AC_genome:19688,GnomAD_AN_genome:30810,GnomAD:0.6390;SGVEP=AFF3|-|NM_001025108|7|c.949-87_949-86insA|.|intronic GT:DP:AD:DP4 1/1:21:1,20:0,1,10,10 2 100720794 146019367 G A 360 off_target VARTYPE=1;BGN=0.00151053;ARL=229;DER=50;DEA=45;QR=33;QA=35;PBP=182;PBM=185;TYPE=SNP;DBXREF=dbSNP:rs535369131,g1000:0.1108,esp5400:0.1316,GnomAD_AC_genome:2625,GnomAD_AN_genome:22922,GnomAD:0.1145;SGVEP=AFF3|-|NM_001025108|2|c.53+70C>T|.|intronic GT:DP:AD:DP4 0/1:33:17,16:9,8,8,8 2 101541798 146094210 C T 511 off_target VARTYPE=1;BGN=0.000865644;ARL=245;DER=58;DEA=51;QR=36;QA=38;PBP=261;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs356651,g1000:0.9129,esp5400:0.8514,ExAC:0.8680,GnomAD_AC_exome:206850,GnomAD_AN_exome:237066,GnomAD_AC_genome:26894,GnomAD_AN_genome:30908,GnomAD:0.8723;SGVEP=NPAS2|+|NM_002518|3|c.181+42C>T|.|intronic GT:DP:AD:DP4 0/1:60:38,22:18,20,11,11 2 101564628 146097122 A G 386 off_target VARTYPE=1;BGN=0.00104216;ARL=238;DER=68;DEA=36;QR=35;QA=37;PBP=180;PBM=211;TYPE=SNP;DBXREF=dbSNP:rs10207725,g1000:0.4431,GnomAD_AC_genome:15275,GnomAD_AN_genome:30904,GnomAD:0.4943;SGVEP=NPAS2|+|NM_002518|6|c.364-69A>G|.|intronic GT:DP:AD:DP4 0/1:24:9,15:5,4,7,8 2 101581976 146099319 A G 160 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=283;DER=27;DEA=27;QR=29;QA=37;PBP=79;PBM=83;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4851392,g1000:0.8724,GnomAD_AC_genome:24749,GnomAD_AN_genome:30812,GnomAD:0.8032;SGVEP=NPAS2|+|NM_002518|10|c.801-146A>G|.|intronic GT:DP:AD:DP4 0/1:9:3,6:2,1,3,3 2 101612051 146102486 G A 445 off_target VARTYPE=1;BGN=0.00125468;ARL=224;DER=58;DEA=76;QR=36;QA=36;PBP=204;PBM=248;TYPE=SNP;DBXREF=dbSNP:rs2305158,g1000:0.1749,esp5400:0.2182,ExAC:0.1960,GnomAD_AC_exome:45369,GnomAD_AN_exome:232788,GnomAD_AC_genome:6457,GnomAD_AN_genome:30862,GnomAD:0.1966;SGVEP=NPAS2|+|NM_002518|21|c.*7G>A|.|3'UTR GT:DP:AD:DP4 0/1:49:29,20:13,16,9,11 2 102018908 146156307 A G 272 PASS VARTYPE=1;BGN=0.00104216;ARL=228;DER=69;DEA=79;QR=36;QA=37;PBP=151;PBM=128;TYPE=SNP;DBXREF=dbSNP:rs2175968,g1000:0.4525,esp5400:0.5232,ExAC:0.4540,PhyloP:1.3540,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:3.8100,GnomAD_AC_exome:73040,GnomAD_AN_exome:148920,GnomAD_AC_genome:16123,GnomAD_AN_genome:30910,GnomAD:0.4958;SGVEP=RFX8|-|NM_001145664|11|c.1235T>C|p.(Met412Thr)|missense GT:DP:AD:DP4 0/1:50:37,13:19,18,7,6 2 102029646 146157593 T C 218 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=279;DER=22;DEA=52;QR=33;QA=38;PBP=82;PBM=140;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12620464,g1000:0.1512,GnomAD_AC_genome:4494,GnomAD_AN_genome:30958,GnomAD:0.1452;SGVEP=RFX8|-|NM_001145664|8|c.562-113A>G|.|intronic GT:DP:AD:DP4 0/1:12:4,8:2,2,3,5 2 102035192 146157883 C T 112 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=274;DER=42;DEA=31;QR=38;QA=35;PBP=69;PBM=46;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6709913,g1000:0.7087,GnomAD_AC_genome:22394,GnomAD_AN_genome:30886,GnomAD:0.7251;SGVEP=RFX8|-|NM_001145664|5|c.351+121G>A|.|intronic GT:DP:AD:DP4 0/1:12:7,5:4,3,3,2 2 102038849 146158083 T A 2018 PASS VARTYPE=1;BGN=0.00104216;ARL=222;DEA=81;QA=37;PBP=1041;PBM=982;TYPE=SNP;DBXREF=dbSNP:rs4851436,g1000:0.9020,esp5400:0.9641,ExAC:0.9710,PhyloP:0.4930,SIFT:0.4620,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:4.7400,GnomAD_AC_exome:143514,GnomAD_AN_exome:151306,GnomAD_AC_genome:28992,GnomAD_AN_genome:30968,GnomAD:0.9464;SGVEP=RFX8|-|NM_001145664|3|c.158A>T|p.(Gln53Leu)|missense GT:DP:AD:DP4 1/1:68:0,68:0,0,35,33 2 102083183 146163718 T C 655 off_target VARTYPE=1;BGN=0.00104216;ARL=252;DEA=85;QA=37;PBP=328;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs4851455,g1000:0.5238,esp5400:0.5918,GnomAD_AC_genome:18024,GnomAD_AN_genome:30912,GnomAD:0.5831;SGVEP=RFX8|-|NM_001145664|2|c.72+56A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 2 102788409 146255178 G A 1249 off_target VARTYPE=1;BGN=0.00104216;ARL=211;DEA=45;QA=37;PBP=596;PBM=655;TYPE=SNP;DBXREF=dbSNP:rs2041747,g1000:0.9870,esp5400:0.9668,ExAC:0.9710,GnomAD_AC_exome:202953,GnomAD_AN_exome:209100,GnomAD_AC_genome:30072,GnomAD_AN_genome:30808,GnomAD:0.9713;SGVEP=IL1R1|+|NM_000877|8|c.839+31G>A|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,20,22 2 103040247 146286309 TG TGG 602 off_target VARTYPE=1;BGN=0.00181855;ARL=242;DEA=61;QA=34;PBP=301;PBM=301;TYPE=INDEL;DBXREF=dbSNP:rs398104566,g1000:0.6893,ExAC:0.6910,GnomAD_AC_exome:158753,GnomAD_AN_exome:231110,GnomAD_AC_genome:24257,GnomAD_AN_genome:30774,GnomAD:0.6988;SGVEP=IL18RAP|+|NM_003853|4|c.71-23dupG|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 2 103040249 146286318 C T 685 off_target VARTYPE=1;BGN=0.00104216;ARL=240;DER=125;DEA=54;QR=10;QA=37;PBP=328;PBM=358;TYPE=SNP;DBXREF=dbSNP:rs2272129,g1000:0.6893,esp5400:0.7246,ExAC:0.6910,GnomAD_AC_exome:161044,GnomAD_AN_exome:234046,GnomAD_AC_genome:24258,GnomAD_AN_genome:30766,GnomAD:0.6997;SGVEP=IL18RAP|+|NM_003853|4|c.71-22C>T|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,11,12 2 103040945 146286700 G A 1870 off_target VARTYPE=1;BGN=0.00104216;ARL=210;DEA=43;QA=37;PBP=893;PBM=982;TYPE=SNP;DBXREF=dbSNP:rs887972,g1000:0.2796,GnomAD_AC_genome:8053,GnomAD_AN_genome:30882,GnomAD:0.2608;SGVEP=IL18RAP|+|NM_003853|5|c.579+71G>A|.|intronic GT:DP:AD:DP4 1/1:63:0,63:0,0,30,33 2 103059613 146289581 A G 714 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DEA=28;QA=37;PBP=417;PBM=298;TYPE=SNP;DBXREF=dbSNP:rs1558651,g1000:1.0000,esp5400:0.9998,ExAC:1.0000,GnomAD_AC_exome:224904,GnomAD_AN_exome:224924,GnomAD_AC_genome:30983,GnomAD_AN_genome:30984,GnomAD:0.9999;SGVEP=IL18RAP|+|NM_003853|8|c.797-47A>G|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,14,10 2 105977776 131350 G A 310 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DER=52;DEA=69;QR=38;QA=37;PBP=158;PBM=158;TYPE=SNP;DBXREF=dbSNP:rs3087523,g1000:0.0517,esp5400:0.0903,ExAC:0.0910,clinvar:rs3087523,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:23045,GnomAD_AN_exome:245676,GnomAD_AC_genome:2641,GnomAD_AN_genome:30968,GnomAD:0.0928;SGVEP=FHL2|-|NM_001039492|7|c.804C>T|p.(Asp268:)|synonymous GT:DP:AD:DP4 0/1:42:28,14:14,14,7,7 2 105979730 131355 C A 806 off_target VARTYPE=1;BGN=0.00104216;ARL=246;DER=82;DEA=74;QR=36;QA=37;PBP=449;PBM=367;TYPE=SNP;DBXREF=dbSNP:rs2278502,g1000:0.2774,esp5400:0.3138,ExAC:0.3320,clinvar:rs2278502,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:81388,GnomAD_AN_exome:244430,GnomAD_AC_genome:9660,GnomAD_AN_genome:30922,GnomAD:0.3307;SGVEP=FHL2|-|NM_001039492|6|c.688+12G>T|.|intronic GT:DP:AD:DP4 0/1:83:46,35:22,24,19,16 2 108618540 146873951 G A 283 off_target VARTYPE=1;BGN=0.00104216;ARL=239;DER=35;DEA=62;QR=36;QA=37;PBP=144;PBM=144;TYPE=SNP;DBXREF=dbSNP:rs3731683,g1000:0.3960,esp5400:0.4230,ExAC:0.3610,GnomAD_AC_exome:83619,GnomAD_AN_exome:228456,GnomAD_AC_genome:12971,GnomAD_AN_genome:30916,GnomAD:0.3724;SGVEP=SLC5A7|+|NM_001305005|6|c.741+44G>A|.|intronic GT:DP:AD:DP4 0/1:28:16,12:8,8,6,6 2 109347947 146958549 T G 323 off_target VARTYPE=1;BGN=0.000865644;ARL=208;DER=57;DEA=46;QR=37;QA=38;PBP=165;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs826526,g1000:0.3830,esp5400:0.3970,ExAC:0.2710,clinvar:rs826526,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:62538,GnomAD_AN_exome:243652,GnomAD_AC_genome:11014,GnomAD_AN_genome:30868,GnomAD:0.2679;SGVEP=RANBP2|+|NM_006267|4|c.405+17T>G|.|intronic GT:DP:AD:DP4 0/1:41:27,14:13,14,7,7 2 109352503 146958998 A G 353 off_target VARTYPE=1;BGN=0.00104216;ARL=247;DER=45;DEA=41;QR=36;QA=37;PBP=205;PBM=155;TYPE=SNP;DBXREF=dbSNP:rs826578,g1000:0.3830,GnomAD_AC_genome:11004,GnomAD_AN_genome:30912,GnomAD:0.3560;SGVEP=RANBP2|+|NM_006267|6|c.637-57A>G|.|intronic GT:DP:AD:DP4 0/1:48:32,16:16,16,9,7 2 109352542 146959012 G A 603 off_target VARTYPE=1;BGN=0.000865644;ARL=228;DER=57;DEA=55;QR=36;QA=38;PBP=318;PBM=294;TYPE=SNP;DBXREF=dbSNP:rs826577,g1000:0.3830,esp5400:0.3137,ExAC:0.2660,clinvar:rs826577,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:59688,GnomAD_AN_exome:239368,GnomAD_AC_genome:11011,GnomAD_AN_genome:30892,GnomAD:0.2616;SGVEP=RANBP2|+|NM_006267|6|c.637-18G>A|.|intronic GT:DP:AD:DP4 0/1:86:59,27:30,29,14,13 2 109365570 146960405 A G 163 low_variant_fraction VARTYPE=1;BGN=0.00104216;ARL=224;DER=64;DEA=75;QR=36;QA=37;PBP=86;PBM=83;SP=0;TYPE=SNP;DBXREF=dbSNP:rs200373569,g1000:0.0044,PhyloP:1.4160,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:5.4000,GnomAD_AC_genome:1,GnomAD_AN_genome:30968,GnomAD:0.0000;SGVEP=RANBP2|+|NM_006267|9|c.1258A>G|p.(Thr420Ala)|missense GT:DP:AD:DP4 0/1:106:96,10:45,51,5,5 2 109371497 146961583 C T 1084 PASS VARTYPE=1;BGN=0.00104216;ARL=204;DER=101;DEA=85;QR=36;QA=37;PBP=547;PBM=547;TYPE=SNP;DBXREF=dbSNP:rs61758802,g1000:0.0104,esp5400:0.0056,ExAC:0.0082,PhyloP:1.4380,SIFT:0.9940,PolyPhen2:0.0130,PolyPhen2_HumDiv:0.0800,MutationTaster:0.9910,GERP:4.9000,clinvar:rs61758802,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:1954,GnomAD_AN_exome:245744,GnomAD_AC_genome:124,GnomAD_AN_genome:30916,GnomAD:0.0075;SGVEP=RANBP2|+|NM_006267|16|c.2339C>T|p.(Pro780Leu)|missense GT:DP:AD:DP4 0/1:98:52,46:26,26,23,23 2 109379950 146962432 G A 1005 PASS VARTYPE=1;BGN=0.00125468;ARL=236;DER=110;DEA=108;QR=37;QA=36;PBP=549;PBM=466;TYPE=SNP;DBXREF=dbSNP:rs61748147,g1000:0.0104,esp5400:0.0056,ExAC:0.0082,clinvar:rs61748147,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:1951,GnomAD_AN_exome:245828,GnomAD_AC_genome:121,GnomAD_AN_genome:30970,GnomAD:0.0075;SGVEP=RANBP2|+|NM_006267|20|c.2955G>A|p.(Pro985:)|synonymous GT:DP:AD:DP4 0/1:104:59,45:28,31,24,21 2 109384848 146963788 A G 274 PASS VARTYPE=1;BGN=0.00104216;ARL=234;DER=47;DEA=84;QR=37;QA=37;PBP=140;PBM=140;TYPE=SNP;DBXREF=dbSNP:rs2949961,g1000:0.0106,esp5400:0.0006,clinvar:rs2949961,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:1086,GnomAD_AN_exome:239454,GnomAD_AC_genome:151,GnomAD_AN_genome:30930,GnomAD:0.0046;SGVEP=RANBP2|+|NM_006267|20|c.7849+4A>G|.|splice_donor_+4 GT:DP:AD:DP4 0/1:32:20,12:10,10,6,6 2 109389463 146964292 G A 1273 PASS VARTYPE=1;BGN=0.00125468;ARL=214;DEA=63;QA=36;PBP=609;PBM=666;TYPE=SNP;DBXREF=dbSNP:rs826580,g1000:0.9872,esp5400:0.9848,ExAC:0.9960,GnomAD_AC_exome:244908,GnomAD_AN_exome:245660,GnomAD_AC_genome:30624,GnomAD_AN_genome:30984,GnomAD:0.9960;SGVEP=RANBP2|+|NM_006267|23|c.8253G>A|p.(Glu2751:)|synonymous GT:DP:AD:DP4 1/1:44:0,44:0,0,21,23 2 109393522 146964696 TGGGG TGGG 398 off_target VARTYPE=1;BGN=0.0185336;ARL=254;DEA=54;QA=37;HL=4;PBP=208;PBM=191;TYPE=INDEL;DBXREF=dbSNP:rs796426065,g1000:0.9894,GnomAD_AC_genome:30652,GnomAD_AN_genome:30944,GnomAD:0.9906;SGVEP=RANBP2|+|NM_006267|25|c.8498-60del|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,12,11 2 109513321 131389 C A 1591 off_target VARTYPE=1;BGN=0.00125468;ARL=245;DEA=76;QA=36;PBP=840;PBM=753;TYPE=SNP;DBXREF=dbSNP:rs7607563,g1000:0.8830,esp5400:0.8588,ExAC:0.8960,clinvar:rs7607563,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:190278,GnomAD_AN_exome:209032,GnomAD_AC_genome:26863,GnomAD_AN_genome:30932,GnomAD:0.9049;SGVEP=EDAR|-|NM_022336|12|c.*42G>T|.|3'UTR GT:DP:AD:DP4 1/1:55:0,55:0,0,29,26 2 109513654 131396 G A 822 PASS VARTYPE=1;BGN=0.00125468;ARL=201;DER=63;DEA=63;QR=37;QA=36;PBP=391;PBM=440;TYPE=SNP;DBXREF=dbSNP:rs12623957,g1000:0.7119,esp5400:0.6937,ExAC:0.8080,clinvar:rs12623957,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:198091,GnomAD_AN_exome:241034,GnomAD_AC_genome:22831,GnomAD_AN_genome:30896,GnomAD:0.8124;SGVEP=EDAR|-|NM_022336|12|c.1056C>T|p.(Cys352:)|synonymous GT:DP:AD:DP4 0/1:77:41,36:20,21,17,19 2 109522720 131397 G A 470 off_target VARTYPE=1;BGN=0.00104216;ARL=219;DER=74;DEA=57;QR=38;QA=37;PBP=252;PBM=224;TYPE=SNP;DBXREF=dbSNP:rs260639,g1000:0.6743,esp5400:0.6761,ExAC:0.7950,clinvar:rs260639,CLNSIG:Uncertain_significance,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:198937,GnomAD_AN_exome:246062,GnomAD_AC_genome:22314,GnomAD_AN_genome:30670,GnomAD:0.7995;SGVEP=EDAR|-|NM_022336|11|c.1024+44C>T|.|intronic GT:DP:AD:DP4 0/1:35:16,19:8,8,10,9 2 109524409 146977118 G A 918 PASS VARTYPE=1;BGN=0.00104216;ARL=215;DER=102;DEA=108;QR=36;QA=37;PBP=453;PBM=476;TYPE=SNP;DBXREF=dbSNP:rs3749099,g1000:0.0120,esp5400:0.0067,ExAC:0.0083,clinvar:rs3749099,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:1915,GnomAD_AN_exome:243686,GnomAD_AC_genome:155,GnomAD_AN_genome:30910,GnomAD:0.0075;SGVEP=EDAR|-|NM_022336|10|c.870C>T|p.(Pro290:)|synonymous GT:DP:AD:DP4 0/1:138:95,43:47,48,21,22 2 109524466 146977134 A G 792 PASS VARTYPE=1;BGN=0.00104216;ARL=220;DER=69;DEA=71;QR=37;QA=37;PBP=377;PBM=425;TYPE=SNP;DBXREF=dbSNP:rs3749098,g1000:0.0108,esp5400:0.0057,ExAC:0.0079,GnomAD_AC_exome:1833,GnomAD_AN_exome:242894,GnomAD_AC_genome:116,GnomAD_AN_genome:30928,GnomAD:0.0071;SGVEP=EDAR|-|NM_022336|10|c.813T>C|p.(Asp271:)|synonymous GT:DP:AD:DP4 0/1:103:67,36:33,34,17,19 2 109526969 131400 G A 1456 PASS VARTYPE=1;BGN=0.00104216;ARL=227;DEA=83;QA=37;PBP=714;PBM=744;TYPE=SNP;DBXREF=dbSNP:rs260632,g1000:0.9213,esp5400:0.8983,ExAC:0.9160,clinvar:rs260632,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:225807,GnomAD_AN_exome:245760,GnomAD_AC_genome:27814,GnomAD_AN_genome:30848,GnomAD:0.9169;SGVEP=EDAR|-|NM_022336|9|c.750C>T|p.(Ser250:)|synonymous GT:DP:AD:DP4 1/1:49:0,49:0,0,24,25 2 109527087 131403 G A 306 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=262;DEA=124;QA=38;PBP=153;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs260631,g1000:0.6655,clinvar:rs260631,CLNSIG:Uncertain_significance,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_genome:21651,GnomAD_AN_genome:30802,GnomAD:0.7029;SGVEP=EDAR|-|NM_022336|9|c.731-99C>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 109527239 146977428 C T 574 PASS VARTYPE=1;BGN=0.00125468;ARL=230;DER=78;DEA=68;QR=36;QA=36;PBP=321;PBM=261;TYPE=SNP;DBXREF=dbSNP:rs3749108,g1000:0.0110,esp5400:0.0054,ExAC:0.0078,GnomAD_AC_exome:1834,GnomAD_AN_exome:246018,GnomAD_AC_genome:116,GnomAD_AN_genome:30898,GnomAD:0.0070;SGVEP=EDAR|-|NM_022336|8|c.723G>A|p.(Glu241:)|synonymous GT:DP:AD:DP4 0/1:78:51,27:29,22,15,12 2 109527373 131405 A G 10000 off_target VARTYPE=1;BGN=0.00104216;ARL=225;DEA=80;QA=37;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs260630,g1000:0.9275,esp5400:0.9071,ExAC:0.9190,PhyloP:-1.2810,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-3.6900,clinvar:rs260630,CLNSIG:Uncertain_significance,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:225536,GnomAD_AN_exome:244974,GnomAD_AC_genome:28014,GnomAD_AN_genome:30848,GnomAD:0.9193;SGVEP=EDAR|-|NM_022336|7|c.655+30T>C|.|intronic GT:DP:AD:DP4 1/1:283:0,283:0,0,143,140 2 109539765 146978527 T C 422 off_target VARTYPE=1;BGN=0.00104216;ARL=263;DER=81;DEA=92;QR=37;QA=37;PBP=224;PBM=204;TYPE=SNP;DBXREF=dbSNP:rs74690043,g1000:0.0106,GnomAD_AC_genome:108,GnomAD_AN_genome:30944,GnomAD:0.0035;SGVEP=EDAR|-|NM_022336|5|c.442+59A>G|.|intronic GT:DP:AD:DP4 0/1:31:14,17:8,6,9,8 2 109539774 146978529 G A 500 off_target VARTYPE=1;BGN=0.00104216;ARL=259;DER=85;DEA=86;QR=37;QA=37;PBP=276;PBM=231;TYPE=SNP;DBXREF=dbSNP:rs3749107,g1000:0.1172,esp5400:0.1102,ExAC:0.0830,GnomAD_AC_exome:19301,GnomAD_AN_exome:246072,GnomAD_AC_genome:2900,GnomAD_AN_genome:30936,GnomAD:0.0801;SGVEP=EDAR|-|NM_022336|5|c.442+50C>T|.|intronic GT:DP:AD:DP4 0/1:35:15,20:9,6,11,9 2 109540036 146978600 C G 118 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=268;DER=48;DEA=15;QR=36;QA=37;PBP=76;PBM=46;SP=2;TYPE=SNP;DBXREF=dbSNP:rs748224,g1000:0.2135,GnomAD_AC_genome:5666,GnomAD_AN_genome:30924,GnomAD:0.1832;SGVEP=EDAR|-|NM_022336|5|c.357-127G>C|.|intronic GT:DP:AD:DP4 0/1:13:8,5:3,5,3,2 2 109545895 146979186 C T 620 off_target VARTYPE=1;BGN=0.00125468;ARL=243;DER=42;DEA=50;QR=38;QA=36;PBP=315;PBM=310;TYPE=SNP;DBXREF=dbSNP:rs117489209,g1000:0.0136,GnomAD_AC_genome:185,GnomAD_AN_genome:30934,GnomAD:0.0060;SGVEP=EDAR|-|NM_022336|4|c.175-60G>A|.|intronic GT:DP:AD:DP4 0/1:33:9,24:4,5,12,12 2 110905664 147099233 G A 550 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=234;DEA=45;QA=38;PBP=275;PBM=275;TYPE=SNP;DBXREF=dbSNP:rs1509417,g1000:0.4750,GnomAD_AC_genome:11339,GnomAD_AN_genome:30854,GnomAD:0.3675;SGVEP=NPHP1|-|NM_000272|13|c.1327-61C>T|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 110919321 147099994 C T 596 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DEA=57;QA=37;PBP=298;PBM=298;TYPE=SNP;DBXREF=dbSNP:rs2271244,g1000:0.3780,esp5400:0.2836,ExAC:0.3330,clinvar:rs2271244,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:75785,GnomAD_AN_exome:214818,GnomAD_AC_genome:8757,GnomAD_AN_genome:30850,GnomAD:0.3441;SGVEP=NPHP1|-|NM_000272|10|c.1028-47G>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 2 110922703 131433 C T 1545 PASS VARTYPE=1;BGN=0.00104216;ARL=204;DEA=80;QA=37;PBP=774;PBM=774;TYPE=SNP;DBXREF=dbSNP:rs11675767,g1000:0.4744,esp5400:0.3835,ExAC:0.3790,clinvar:rs11675767,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:91945,GnomAD_AN_exome:246120,GnomAD_AC_genome:11349,GnomAD_AN_genome:30884,GnomAD:0.3729;SGVEP=NPHP1|-|NM_000272|7|c.654G>A|p.(Glu218:)|synonymous GT:DP:AD:DP4 1/1:52:0,52:0,0,26,26 2 111907691 147183454 T C 1659 PASS VARTYPE=1;BGN=0.00104216;ARL=216;DER=87;DEA=101;QR=37;QA=37;PBP=837;PBM=837;TYPE=SNP;DBXREF=dbSNP:rs724710,g1000:0.6925,esp5400:0.7104,ExAC:0.6550,GnomAD_AC_exome:158117,GnomAD_AN_exome:245852,GnomAD_AC_genome:21940,GnomAD_AN_genome:30924,GnomAD:0.6506;SGVEP=BCL2L11|+|NM_001204106|3|c.195T>C|p.(Ile65:)|synonymous GT:DP:AD:DP4 0/1:216:140,76:70,70,38,38 2 112656392 147236869 G A 619 off_target VARTYPE=1;BGN=0.00104216;ARL=202;DER=62;DEA=55;QR=35;QA=37;PBP=276;PBM=351;TYPE=SNP;DBXREF=dbSNP:rs115821982,g1000:0.0345,esp5400:0.0395,ExAC:0.0320,clinvar:rs115821982,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:6883,GnomAD_AN_exome:172620,GnomAD_AC_genome:1665,GnomAD_AN_genome:30862,GnomAD:0.0420;SGVEP=MERTK|+|NM_006343|1|c.61+19G>A|.|intronic GT:DP:AD:DP4 0/1:45:20,25:9,11,11,14 2 112705157 147242327 T C 2254 off_target VARTYPE=1;BGN=0.00104216;ARL=220;DEA=57;QA=37;PBP=1130;PBM=1130;TYPE=SNP;DBXREF=dbSNP:rs3761701,g1000:0.5148,esp5400:0.5842,ExAC:0.5830,clinvar:rs3761701,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:144305,GnomAD_AN_exome:245672,GnomAD_AC_genome:17836,GnomAD_AN_genome:30890,GnomAD:0.5863;SGVEP=MERTK|+|NM_006343|4|c.757+13T>C|.|intronic GT:DP:AD:DP4 1/1:76:0,76:0,0,38,38 2 112705185 147242341 G T 550 off_target VARTYPE=1;BGN=0.00104216;ARL=236;DER=37;DEA=65;QR=37;QA=37;PBP=266;PBM=290;TYPE=SNP;DBXREF=dbSNP:rs3761700,g1000:0.4920,esp5400:0.5348,ExAC:0.5200,GnomAD_AC_exome:127549,GnomAD_AN_exome:243364,GnomAD_AC_genome:16221,GnomAD_AN_genome:30898,GnomAD:0.5242;SGVEP=MERTK|+|NM_006343|4|c.757+41G>T|.|intronic GT:DP:AD:DP4 0/1:48:25,23:12,13,11,12 2 112725684 147244434 A G 334 off_target VARTYPE=1;BGN=0.00151053;ARL=239;DER=28;DEA=7;QR=28;QA=35;PBP=178;PBM=162;TYPE=SNP;DBXREF=dbSNP:rs75918730,esp5400:0.0155,ExAC:0.0006,GnomAD_AC_genome:45,GnomAD_AN_genome:29934,GnomAD:0.0015;SGVEP=MERTK|+|NM_006343|6|c.845-30A>G|.|intronic GT:DP:AD:DP4 0/1:60:2,17:1,1,9,8 2 112725684 147244441 A ATGTGTG 1108 off_target VARTYPE=1;BGN=0.000865644;ARL=239;DER=28;DEA=55;QR=28;QA=215;PBP=619;PBM=500;TYPE=INDEL;DBXREF=dbSNP:rs113538397,ExAC:0.5130,GnomAD_AC_genome:17464,GnomAD_AN_genome:29934,GnomAD:0.5834;SGVEP=MERTK|+|NM_006343|6|c.845-20_845-15dup|.|intronic GT:DP:AD:DP4 0/1:65:2,42:1,1,23,19 2 112740373 147246019 G A 398 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=246;DEA=59;QA=38;PBP=214;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs1996323,g1000:0.5613,esp5400:0.6357,ExAC:0.5970,GnomAD_AC_exome:147229,GnomAD_AN_exome:246048,GnomAD_AC_genome:19206,GnomAD_AN_genome:30884,GnomAD:0.6010;SGVEP=MERTK|+|NM_006343|8|c.1145-46G>A|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 2 112740596 147246117 GA G 167 off_target VARTYPE=1;BGN=0.00181855;ARL=228;DER=60;DEA=69;QR=38;QA=34;PBP=98;PBM=75;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs57740008,g1000:0.2368,ExAC:0.2650,GnomAD_AC_exome:66836,GnomAD_AN_exome:245452,GnomAD_AC_genome:7634,GnomAD_AN_genome:30852,GnomAD:0.2695;SGVEP=MERTK|+|NM_006343|8|c.1296+27del|.|intronic GT:DP:AD:DP4 0/1:36:27,9:13,14,5,4 2 112740598 147246128 T G 157 off_target VARTYPE=1;BGN=0.00151053;ARL=233;DER=58;DEA=73;QR=36;QA=35;PBP=82;PBM=80;SP=0;TYPE=SNP;DBXREF=dbSNP:rs57297275,g1000:0.2368,ExAC:0.2650,GnomAD_AC_exome:66842,GnomAD_AN_exome:245490,GnomAD_AC_genome:7634,GnomAD_AN_genome:30848,GnomAD:0.2695;SGVEP=MERTK|+|NM_006343|8|c.1296+28T>G|.|intronic GT:DP:AD:DP4 0/1:31:23,8:11,12,4,4 2 112751928 147247281 G A 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=216;DEA=86;QA=37;PBP=1693;PBM=1782;TYPE=SNP;DBXREF=dbSNP:rs7604639,g1000:0.5615,esp5400:0.6354,ExAC:0.5970,PhyloP:-0.8610,SIFT:0.1370,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9700,MutationTaster:0.0000,GERP:-3.1700,clinvar:rs7604639,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:147274,GnomAD_AN_exome:246156,GnomAD_AC_genome:19199,GnomAD_AN_genome:30880,GnomAD:0.6009;SGVEP=MERTK|+|NM_006343|9|c.1397G>A|p.(Arg466Lys)|missense GT:DP:AD:DP4 1/1:117:0,117:0,0,57,60 2 112755001 147248354 A G 2107 PASS VARTYPE=1;BGN=0.00104216;ARL=212;DEA=85;QA=37;PBP=1041;PBM=1071;TYPE=SNP;DBXREF=dbSNP:rs2230515,g1000:0.5615,esp5400:0.6353,ExAC:0.5970,PhyloP:-0.5840,SIFT:0.3260,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:0.7980,MutationTaster:0.0000,GERP:-2.0300,clinvar:rs2230515,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:147323,GnomAD_AN_exome:246180,GnomAD_AC_genome:19205,GnomAD_AN_genome:30888,GnomAD:0.6010;SGVEP=MERTK|+|NM_006343|10|c.1552A>G|p.(Ile518Val)|missense GT:DP:AD:DP4 1/1:71:0,71:0,0,35,36 2 112761653 147248881 C G 428 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=256;DEA=53;QA=38;PBP=184;PBM=245;TYPE=SNP;DBXREF=dbSNP:rs4848933,g1000:0.5152,GnomAD_AC_genome:17936,GnomAD_AN_genome:30890,GnomAD:0.5806;SGVEP=MERTK|+|NM_006343|13|c.1867+92C>G|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,6,8 2 112765973 147249294 A G 1071 PASS VARTYPE=1;BGN=0.00104216;ARL=213;DEA=83;QA=37;PBP=536;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs1131244,g1000:0.5152,esp5400:0.5880,ExAC:0.5820,clinvar:rs1131244,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:144343,GnomAD_AN_exome:246150,GnomAD_AC_genome:17934,GnomAD_AN_genome:30896,GnomAD:0.5857;SGVEP=MERTK|+|NM_006343|14|c.1881A>G|p.(Ser627:)|synonymous GT:DP:AD:DP4 1/1:36:0,36:0,0,18,18 2 112767483 147249512 A G 390 off_target VARTYPE=1;BGN=0.00104216;ARL=245;DER=67;DEA=35;QR=38;QA=37;PBP=237;PBM=160;TYPE=SNP;DBXREF=dbSNP:rs11884693,g1000:0.2486,esp5400:0.2347,ExAC:0.2690,GnomAD_AC_exome:67814,GnomAD_AN_exome:245812,GnomAD_AC_genome:8049,GnomAD_AN_genome:30900,GnomAD:0.2742;SGVEP=MERTK|+|NM_006343|15|c.1961-42A>G|.|intronic GT:DP:AD:DP4 0/1:43:26,17:13,13,10,7 2 112767739 147249603 A G 383 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=267;DER=117;DEA=36;QR=38;QA=35;PBP=169;PBM=216;TYPE=SNP;DBXREF=dbSNP:rs75313362,g1000:0.1883,GnomAD_AC_genome:6496,GnomAD_AN_genome:30922,GnomAD:0.2101;SGVEP=MERTK|+|NM_006343|15|c.2079+96A>G|.|intronic GT:DP:AD:DP4 1/1:15:1,14:0,1,6,8 2 112776979 147250685 C A 656 off_target VARTYPE=1;BGN=0.00125468;ARL=226;DER=35;DEA=75;QR=35;QA=36;PBP=316;PBM=347;TYPE=SNP;DBXREF=dbSNP:rs3811640,g1000:0.2969,esp5400:0.3000,ExAC:0.3090,clinvar:rs3811640,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:77475,GnomAD_AN_exome:246146,GnomAD_AC_genome:10089,GnomAD_AN_genome:30888,GnomAD:0.3161;SGVEP=MERTK|+|NM_006343|16|c.2080-11C>A|.|intronic GT:DP:AD:DP4 0/1:46:19,27:10,9,13,14 2 112786523 147252232 ATTT ATTTT 113 off_target VARTYPE=1;BGN=0.0149204;ARL=246;DER=33;DEA=62;QR=37;QA=38;HL=3;PBP=52;PBM=65;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs886054761,g1000:0.1873,clinvar:rs886054761,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:6520,GnomAD_AN_genome:30898,GnomAD:0.2110;SGVEP=MERTK|+|NM_006343|19|c.*85dupT|.|3'UTR GT:DP:AD:DP4 0/1:20:11,9:5,6,4,5 2 113588793 147333758 C T 126 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=264;DER=61;DEA=24;QR=36;QA=38;PBP=79;PBM=51;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1143639,g1000:0.1350,GnomAD_AC_genome:6051,GnomAD_AN_genome:30844,GnomAD:0.1962;SGVEP=IL1B|-|NM_000576|6|c.597+76G>A|.|intronic GT:DP:AD:DP4 0/1:11:6,5:3,3,3,2 2 113590390 147333965 G A 810 PASS VARTYPE=1;BGN=0.000865644;ARL=225;DER=78;DEA=74;QR=36;QA=38;PBP=373;PBM=446;TYPE=SNP;DBXREF=dbSNP:rs1143634,g1000:0.1328,esp5400:0.2017,ExAC:0.1960,GnomAD_AC_exome:47484,GnomAD_AN_exome:246248,GnomAD_AC_genome:5968,GnomAD_AN_genome:30914,GnomAD:0.1929;SGVEP=IL1B|-|NM_000576|5|c.315C>T|p.(Phe105:)|synonymous GT:DP:AD:DP4 0/1:94:59,35:28,31,16,19 2 113591162 147334087 G A 669 off_target VARTYPE=1;BGN=0.00104216;ARL=235;DER=86;DEA=55;QR=36;QA=37;PBP=328;PBM=349;TYPE=SNP;DBXREF=dbSNP:rs3917359,g1000:0.0084,esp5400:0.0059,ExAC:0.0095,GnomAD_AC_exome:2214,GnomAD_AN_exome:245216,GnomAD_AC_genome:120,GnomAD_AN_genome:30962,GnomAD:0.0085;SGVEP=IL1B|-|NM_000576|4|c.100-10C>T|.|intronic GT:DP:AD:DP4 0/1:69:40,29:19,21,14,15 2 113591275 147334105 A G 477 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=262;DEA=29;QA=37;PBP=238;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs3136558,g1000:0.2358,GnomAD_AC_genome:6849,GnomAD_AN_genome:30906,GnomAD:0.2216;SGVEP=IL1B|-|NM_000576|4|c.100-123T>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 2 113816940 147354194 C G 194 off_target VARTYPE=1;BGN=0.000865644;ARL=219;DER=38;DEA=32;QR=37;QA=38;PBP=99;PBM=99;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2278716,g1000:0.3207,esp5400:0.0288,GnomAD_AC_genome:10315,GnomAD_AN_genome:30760,GnomAD:0.3353;SGVEP=IL36RN|+|NM_012275|2|c.-27-49C>G|.|intronic GT:DP:AD:DP4 0/1:20:12,8:6,6,4,4 2 113816942 147354198 A C 194 off_target VARTYPE=1;BGN=0.000865644;ARL=219;DER=40;DEA=34;QR=36;QA=38;PBP=99;PBM=99;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2278717,g1000:0.3245,esp5400:0.0247,GnomAD_AC_genome:10313,GnomAD_AN_genome:30762,GnomAD:0.3353;SGVEP=IL36RN|+|NM_012275|2|c.-27-47A>C|.|intronic GT:DP:AD:DP4 0/1:20:12,8:6,6,4,4 2 113877713 147361271 A C 2431 off_target VARTYPE=1;BGN=0.00104216;ARL=206;DER=59;DEA=79;QR=11;QA=37;PBP=1219;PBM=1219;TYPE=SNP;DBXREF=dbSNP:rs878972,g1000:0.1897,esp5400:0.1980,ExAC:0.2450,clinvar:rs878972,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:62589,GnomAD_AN_exome:245992,GnomAD_AC_genome:6489,GnomAD_AN_genome:30872,GnomAD:0.2495;SGVEP=IL1RN|+|NM_000577|1|c.10+2108A>C|.|intronic GT:DP:AD:DP4 1/1:82:0,82:0,0,41,41 2 113887207 147362510 T C 176 low_coverage VARTYPE=1;BGN=0.000865644;ARL=203;DER=57;DEA=80;QR=37;QA=38;PBP=104;PBM=76;SP=0;TYPE=SNP;DBXREF=dbSNP:rs419598,g1000:0.1917,esp5400:0.2055,ExAC:0.2490,clinvar:rs419598,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:63383,GnomAD_AN_exome:246198,GnomAD_AC_genome:6642,GnomAD_AN_genome:30930,GnomAD:0.2527;SGVEP=IL1RN|+|NM_000577|3|c.117T>C|p.(Ala39:)|synonymous GT:DP:AD:DP4 0/1:15:8,7:4,4,4,3 2 113888557 147362685 G A 149 off_target VARTYPE=1;BGN=0.00125468;ARL=261;DER=66;DEA=39;QR=36;QA=36;PBP=88;PBM=66;SP=0;TYPE=SNP;DBXREF=dbSNP:rs451578,g1000:0.1947,GnomAD_AC_genome:6832,GnomAD_AN_genome:30824,GnomAD:0.2216;SGVEP=IL1RN|+|NM_000577|4|c.152-65G>A|.|intronic GT:DP:AD:DP4 0/1:23:16,7:9,7,4,3 2 113888579 147362691 T C 198 off_target VARTYPE=1;BGN=0.00151053;ARL=231;DER=58;DEA=46;QR=37;QA=35;PBP=100;PBM=103;TYPE=SNP;DBXREF=dbSNP:rs432014,g1000:0.2210,esp5400:0.2367,ExAC:0.2580,GnomAD_AC_exome:64930,GnomAD_AN_exome:244854,GnomAD_AC_genome:7445,GnomAD_AN_genome:30846,GnomAD:0.2625;SGVEP=IL1RN|+|NM_000577|4|c.152-43T>C|.|intronic GT:DP:AD:DP4 0/1:36:26,10:14,12,5,5 2 113888793 147362752 A T 499 off_target VARTYPE=1;BGN=0.000865644;ARL=256;DER=60;DEA=40;QR=36;QA=38;PBP=252;PBM=252;TYPE=SNP;DBXREF=dbSNP:rs454078,g1000:0.1909,GnomAD_AC_genome:6616,GnomAD_AN_genome:30864,GnomAD:0.2144;SGVEP=IL1RN|+|NM_000577|4|c.264+59A>T|.|intronic GT:DP:AD:DP4 0/1:24:6,18:3,3,9,9 2 113977862 147376343 T G 377 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=267;DEA=59;QA=36;PBP=174;PBM=203;TYPE=SNP;DBXREF=dbSNP:rs4849175,g1000:0.9910,GnomAD_AC_genome:30669,GnomAD_AN_genome:30926,GnomAD:0.9917;SGVEP=PAX8|-|NM_003466|11|c.1190-107A>C|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 2 113994417 147378110 G T 564 off_target VARTYPE=1;BGN=0.00151053;ARL=265;DEA=44;QA=35;PBP=254;PBM=310;TYPE=SNP;DBXREF=dbSNP:rs1110839,g1000:0.4766,GnomAD_AC_genome:13372,GnomAD_AN_genome:30874,GnomAD:0.4331;SGVEP=PAX8|-|NM_003466|8|c.778-119C>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,9,11 2 114000458 147378879 C A 290 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=246;DEA=28;QA=36;PBP=116;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs902691,g1000:0.9992,GnomAD_AC_genome:30876,GnomAD_AN_genome:30912,GnomAD:0.9988;SGVEP=PAX8|-|NM_003466|5|c.390-103G>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,4,6 2 114004237 147383653 G A 1041 off_target VARTYPE=1;BGN=0.00104216;ARL=277;DEA=65;QA=37;PBP=566;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs11678394,g1000:0.9970,GnomAD_AC_genome:30859,GnomAD_AN_genome:30958,GnomAD:0.9968;SGVEP=PAX8|-|NM_003466|3|c.191+94C>T|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,19,16 2 119988565 147986364 G A 905 off_target VARTYPE=1;BGN=0.00104216;ARL=209;DER=68;DEA=67;QR=37;QA=37;PBP=457;PBM=457;TYPE=SNP;DBXREF=dbSNP:rs838100,g1000:0.2788,esp5400:0.3358,ExAC:0.3500,GnomAD_AC_exome:84104,GnomAD_AN_exome:243658,GnomAD_AC_genome:10286,GnomAD_AN_genome:30904,GnomAD:0.3438;SGVEP=STEAP3|+|NM_001008410|1|c.-9+7101G>A|.|intronic GT:DP:AD:DP4 0/1:60:24,36:12,12,18,18 2 120003642 147989209 C T 348 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=267;DEA=25;QA=36;PBP=145;PBM=203;TYPE=SNP;DBXREF=dbSNP:rs838083,g1000:0.8810,GnomAD_AC_genome:27435,GnomAD_AN_genome:30954,GnomAD:0.8863;SGVEP=STEAP3|+|NM_001008410|2|c.492+78C>T|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,5,7 2 120005312 147989536 G A 597 PASS VARTYPE=1;BGN=0.00104216;ARL=233;DER=104;DEA=96;QR=36;QA=37;PBP=277;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs17013371,g1000:0.0819,esp5400:0.0841,ExAC:0.0360,PhyloP:-0.0210,SIFT:0.3930,PolyPhen2:0.0090,PolyPhen2_HumDiv:0.1080,LRT:0.8930,MutationTaster:0.0000,GERP:0.8430,GnomAD_AC_exome:7434,GnomAD_AN_exome:226258,GnomAD_AC_genome:2086,GnomAD_AN_genome:30894,GnomAD:0.0370;SGVEP=STEAP3|+|NM_001008410|3|c.550G>A|p.(Ala184Thr)|missense GT:DP:AD:DP4 0/1:93:65,28:33,32,13,15 2 120014985 147991011 A G 10000 off_target VARTYPE=1;BGN=0.00104216;ARL=209;DEA=72;QA=37;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs838072,g1000:0.9708,ExAC:0.9490,GnomAD_AC_exome:51560,GnomAD_AN_exome:53854,GnomAD_AC_genome:29432,GnomAD_AN_genome:30946,GnomAD:0.9551;SGVEP=STEAP3|+|NM_001008410|4|c.1185+2561A>G|.|intronic GT:DP:AD:DP4 1/1:244:0,244:0,0,124,120 2 120015197 147991076 A T 3190 PASS VARTYPE=1;BGN=0.00104216;ARL=214;DER=72;DEA=81;QR=37;QA=37;PBP=1663;PBM=1556;TYPE=SNP;DBXREF=dbSNP:rs6542517,g1000:0.0759,ExAC:0.0360,PhyloP:-0.0970,SIFT:1.0000,PolyPhen2:0.0660,PolyPhen2_HumDiv:0.1210,MutationTaster:0.0000,GERP:-0.3950,GnomAD_AC_exome:2784,GnomAD_AN_exome:93072,GnomAD_AC_genome:1944,GnomAD_AN_genome:30960,GnomAD:0.0381;SGVEP=STEAP3|+|NM_138637|5|c.1350A>T|p.(Gln450His)|missense GT:DP:AD:DP4 0/1:301:163,138:81,82,71,67 2 121709091 148189429 G A 290 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=221;DEA=43;QA=36;PBP=145;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs11681136,g1000:0.9387,clinvar:rs11681136,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:28839,GnomAD_AN_genome:30936,GnomAD:0.9322;SGVEP=GLI2|+|NM_005270|3|c.457+70G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 121713022 148190013 C G 1663 off_target VARTYPE=1;BGN=0.00104216;ARL=236;DEA=74;QA=37;PBP=804;PBM=863;TYPE=SNP;DBXREF=dbSNP:rs6718382,g1000:1.0000,ExAC:0.9980,clinvar:rs6718382,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:195663,GnomAD_AN_exome:195668,GnomAD_AC_genome:30859,GnomAD_AN_genome:30860,GnomAD:1.0000;SGVEP=GLI2|+|NM_005270|4|c.643+16C>G|.|intronic GT:DP:AD:DP4 1/1:56:0,56:0,0,27,29 2 121713030 148190017 G A 1331 off_target VARTYPE=1;BGN=0.00125468;ARL=243;DEA=77;QA=36;PBP=609;PBM=724;TYPE=SNP;DBXREF=dbSNP:rs12614482,g1000:0.7859,esp5400:0.7503,ExAC:0.9040,clinvar:rs12614482,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:162887,GnomAD_AN_exome:177594,GnomAD_AC_genome:24450,GnomAD_AN_genome:30842,GnomAD:0.8988;SGVEP=GLI2|+|NM_005270|4|c.643+24G>A|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,21,25 2 121713041 148190024 T C 1244 off_target VARTYPE=1;BGN=0.00125468;ARL=240;DEA=67;QA=36;PBP=580;PBM=666;TYPE=SNP;DBXREF=dbSNP:rs12617878,g1000:0.7859,esp5400:0.7520,ExAC:0.8980,clinvar:rs12617878,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:138596,GnomAD_AN_exome:151550,GnomAD_AC_genome:24458,GnomAD_AN_genome:30848,GnomAD:0.8939;SGVEP=GLI2|+|NM_005270|4|c.643+35T>C|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,20,23 2 121726447 148191576 G A 3138 PASS VARTYPE=1;BGN=0.00104216;ARL=210;DEA=77;QA=37;PBP=1575;PBM=1575;TYPE=SNP;DBXREF=dbSNP:rs2592595,g1000:0.8273,esp5400:0.8067,ExAC:0.9390,PhyloP:-2.5990,SIFT:0.0060,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0060,MutationTaster:1.0000,GERP:-9.8200,clinvar:rs2592595,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:233642,GnomAD_AN_exome:245980,GnomAD_AC_genome:26032,GnomAD_AN_genome:30936,GnomAD:0.9377;SGVEP=GLI2|+|NM_005270|5|c.801G>A|p.(Ser267:)|synonymous GT:DP:AD:DP4 1/1:106:0,106:0,0,53,53 2 121729490 148191826 C T 10000 off_target VARTYPE=1;BGN=0.00125468;ARL=228;DEA=54;QA=36;PBP=1763;PBM=1504;TYPE=SNP;DBXREF=dbSNP:rs2592591,g1000:0.8766,esp5400:0.8689,ExAC:0.9560,clinvar:rs2592591,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:236874,GnomAD_AN_exome:246092,GnomAD_AC_genome:27552,GnomAD_AN_genome:30912,GnomAD:0.9546;SGVEP=GLI2|+|NM_005270|7|c.1060-27C>T|.|intronic GT:DP:AD:DP4 1/1:113:0,113:0,0,61,52 2 121729686 148191881 T C 2343 off_target VARTYPE=1;BGN=0.00104216;ARL=233;DEA=45;QA=37;PBP=1130;PBM=1219;TYPE=SNP;DBXREF=dbSNP:rs2592590,g1000:0.8770,esp5400:0.8692,ExAC:0.9550,clinvar:rs2592590,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:233223,GnomAD_AN_exome:242218,GnomAD_AC_genome:27568,GnomAD_AN_genome:30926,GnomAD:0.9548;SGVEP=GLI2|+|NM_005270|7|c.1182+47T>C|.|intronic GT:DP:AD:DP4 1/1:79:0,79:0,0,38,41 2 121740190 148192531 C T 666 off_target VARTYPE=1;BGN=0.00125468;ARL=264;DEA=37;QA=36;PBP=464;PBM=203;TYPE=SNP;DBXREF=dbSNP:rs1968619,g1000:0.9317,GnomAD_AC_genome:28917,GnomAD_AN_genome:30960,GnomAD:0.9340;SGVEP=GLI2|+|NM_005270|10|c.1519-102C>T|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,16,7 2 121740194 148192532 T G 648 off_target VARTYPE=1;BGN=0.00151053;ARL=265;DEA=41;QA=35;PBP=451;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs1530580,g1000:0.9944,GnomAD_AC_genome:30760,GnomAD_AN_genome:30952,GnomAD:0.9938;SGVEP=GLI2|+|NM_005270|10|c.1519-98T>G|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,16,7 2 121740505 148192593 C T 934 off_target VARTYPE=1;BGN=0.00125468;ARL=236;DER=51;DEA=57;QR=34;QA=36;PBP=432;PBM=510;TYPE=SNP;DBXREF=dbSNP:rs280196,g1000:0.7798,esp5400:0.7690,ExAC:0.9060,clinvar:rs280196,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:217568,GnomAD_AN_exome:237170,GnomAD_AC_genome:24904,GnomAD_AN_genome:30886,GnomAD:0.9046;SGVEP=GLI2|+|NM_005270|10|c.1683+49C>T|.|intronic GT:DP:AD:DP4 0/1:54:17,37:8,9,17,20 2 121742307 148192770 C T 1544 PASS VARTYPE=1;BGN=0.00104216;ARL=225;DER=71;DEA=75;QR=37;QA=37;PBP=746;PBM=811;TYPE=SNP;DBXREF=dbSNP:rs13008360,g1000:0.0080,esp5400:0.0192,ExAC:0.0240,clinvar:rs13008360,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:5681,GnomAD_AN_exome:240174,GnomAD_AC_genome:708,GnomAD_AN_genome:30896,GnomAD:0.0236;SGVEP=GLI2|+|NM_005270|11|c.1944C>T|p.(Thr648:)|synonymous GT:DP:AD:DP4 0/1:132:67,65:31,36,31,34 2 121744225 148192983 A G 1850 off_target VARTYPE=1;BGN=0.00125468;ARL=234;DEA=67;QA=36;PBP=811;PBM=1042;TYPE=SNP;DBXREF=dbSNP:rs2276553,g1000:0.5196,esp5400:0.6320,ExAC:0.6360,clinvar:rs2276553,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:153490,GnomAD_AN_exome:239818,GnomAD_AC_genome:19182,GnomAD_AN_genome:30862,GnomAD:0.6379;SGVEP=GLI2|+|NM_005270|12|c.2293+35A>G|.|intronic GT:DP:AD:DP4 1/1:64:0,64:0,0,28,36 2 121746956 131534 G T 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=231;DEA=98;QA=37;PBP=2372;PBM=2166;TYPE=SNP;DBXREF=dbSNP:rs3738880,g1000:0.5090,esp5400:0.6258,ExAC:0.6270,PhyloP:-0.1760,SIFT:0.4850,PolyPhen2:0.0580,PolyPhen2_HumDiv:0.2420,LRT:0.6950,MutationTaster:0.0000,GERP:0.0393,clinvar:rs3738880,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:152906,GnomAD_AN_exome:241818,GnomAD_AC_genome:18775,GnomAD_AN_genome:30848,GnomAD:0.6296;SGVEP=GLI2|+|NM_005270|13|c.3466G>T|p.(Ala1156Ser)|missense GT:DP:AD:DP4 1/1:153:0,153:0,0,80,73 2 121747406 131538 G A 2873 PASS VARTYPE=1;BGN=0.00104216;ARL=240;DEA=115;QA=37;PBP=1486;PBM=1397;TYPE=SNP;DBXREF=dbSNP:rs12711538,g1000:0.5671,esp5400:0.6783,ExAC:0.6440,PhyloP:-0.0060,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.7730,MutationTaster:0.0000,GERP:2.1300,clinvar:rs12711538,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:156113,GnomAD_AN_exome:242028,GnomAD_AC_genome:20355,GnomAD_AN_genome:30878,GnomAD:0.6466;SGVEP=GLI2|+|NM_005270|13|c.3916G>A|p.(Asp1306Asn)|missense GT:DP:AD:DP4 1/1:97:0,97:0,0,50,47 2 121747429 131539 A G 3114 PASS VARTYPE=1;BGN=0.00125468;ARL=238;DEA=115;QA=36;PBP=1677;PBM=1446;TYPE=SNP;DBXREF=dbSNP:rs10167980,g1000:0.5124,esp5400:0.6254,ExAC:0.6320,clinvar:rs10167980,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:154436,GnomAD_AN_exome:242634,GnomAD_AC_genome:18923,GnomAD_AN_genome:30870,GnomAD:0.6338;SGVEP=GLI2|+|NM_005270|13|c.3939A>G|p.(Pro1313:)|synonymous GT:DP:AD:DP4 1/1:108:0,108:0,0,58,50 2 127447763 148532595 G A 463 off_target VARTYPE=1;BGN=0.00104216;ARL=236;DER=89;DEA=77;QR=38;QA=37;PBP=248;PBM=221;TYPE=SNP;DBXREF=dbSNP:rs6709803,g1000:0.6144,esp5400:0.5792,GnomAD_AC_genome:18275,GnomAD_AN_genome:30876,GnomAD:0.5919;SGVEP=GYPC|+|NM_001256584|3|c.-14-68G>A|.|intronic GT:DP:AD:DP4 0/1:37:18,19:9,9,10,9 2 127453664 148533174 A C 1088 PASS VARTYPE=1;BGN=0.000865644;ARL=209;DER=87;DEA=90;QR=36;QA=38;PBP=509;PBM=590;TYPE=SNP;DBXREF=dbSNP:rs1050967,g1000:0.6150,esp5400:0.5995,ExAC:0.5550,GnomAD_AC_exome:135065,GnomAD_AN_exome:246000,GnomAD_AC_genome:18260,GnomAD_AN_genome:30868,GnomAD:0.5538;SGVEP=GYPC|+|NM_001256584|5|c.270A>C|p.(Gly90:)|synonymous GT:DP:AD:DP4 0/1:99:54,45:27,27,21,24 2 127808226 148552863 A T 149 off_target VARTYPE=1;BGN=0.00125468;ARL=279;DER=119;DEA=69;QR=36;QA=36;PBP=65;PBM=89;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2071270,g1000:0.3990,GnomAD_AC_genome:10837,GnomAD_AN_genome:30872,GnomAD:0.3510;SGVEP=BIN1|-|NM_001320632|13|c.1066-128T>A|.|intronic GT:DP:AD:DP4 0/1:23:16,7:8,8,3,4 2 127808532 148552916 G A 787 off_target VARTYPE=1;BGN=0.00125468;ARL=255;DER=69;DEA=113;QR=36;QA=36;PBP=399;PBM=396;TYPE=SNP;DBXREF=dbSNP:rs2043798,g1000:0.3093,esp5400:0.3130,ExAC:0.3160,GnomAD_AC_exome:76827,GnomAD_AN_exome:244740,GnomAD_AC_genome:9555,GnomAD_AN_genome:30812,GnomAD:0.3135;SGVEP=BIN1|-|NM_001320632|12|c.955-44C>T|.|intronic GT:DP:AD:DP4 0/1:69:35,34:17,18,17,17 2 127808909 148552978 G A 197 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=234;DER=37;DEA=59;QR=36;QA=36;PBP=101;PBM=101;TYPE=SNP;DBXREF=dbSNP:rs6745677,g1000:0.4335,GnomAD_AC_genome:11659,GnomAD_AN_genome:30840,GnomAD:0.3780;SGVEP=BIN1|-|NM_001320632|12|c.955-421C>T|.|intronic GT:DP:AD:DP4 0/1:14:6,8:3,3,4,4 2 127816632 131586 G A 454 PASS VARTYPE=1;BGN=0.00125468;ARL=218;DER=85;DEA=89;QR=37;QA=36;PBP=228;PBM=233;TYPE=SNP;DBXREF=dbSNP:rs2276579,g1000:0.0946,esp5400:0.1374,ExAC:0.1350,clinvar:rs2276579,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:29838,GnomAD_AN_exome:183106,GnomAD_AC_genome:4248,GnomAD_AN_genome:30798,GnomAD:0.1594;SGVEP=BIN1|-|NM_001320632|11|c.909C>T|p.(Ala303:)|synonymous GT:DP:AD:DP4 0/1:73:51,22:27,24,11,11 2 127821085 148553891 C T 609 off_target VARTYPE=1;BGN=0.00125468;ARL=234;DER=61;DEA=57;QR=33;QA=36;PBP=383;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs2071268,g1000:0.3452,esp5400:0.3009,GnomAD_AC_genome:9486,GnomAD_AN_genome:30852,GnomAD:0.3075;SGVEP=BIN1|-|NM_001320632|8|c.681+62G>A|.|intronic GT:DP:AD:DP4 0/1:35:11,24:7,4,15,9 2 127821452 148553958 C T 170 off_target VARTYPE=1;BGN=0.000865644;ARL=229;DER=58;DEA=79;QR=35;QA=38;PBP=64;PBM=112;SP=2;TYPE=SNP;DBXREF=dbSNP:rs2071267,g1000:0.1456,esp5400:0.1592,GnomAD_AC_genome:4702,GnomAD_AN_genome:30858,GnomAD:0.1524;SGVEP=BIN1|-|NM_001320632|7|c.605+57G>A|.|intronic GT:DP:AD:DP4 0/1:36:28,8:14,14,3,5 2 127821499 131596 T C 332 off_target VARTYPE=1;BGN=0.000865644;ARL=214;DER=60;DEA=61;QR=36;QA=38;PBP=167;PBM=172;TYPE=SNP;DBXREF=dbSNP:rs72481904,g1000:0.3452,esp5400:0.2856,ExAC:0.3690,clinvar:rs72481904,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:92371,GnomAD_AN_exome:245944,GnomAD_AC_genome:9503,GnomAD_AN_genome:30860,GnomAD:0.3680;SGVEP=BIN1|-|NM_001320632|7|c.605+10A>G|.|intronic GT:DP:AD:DP4 0/1:73:57,16:31,26,8,8 2 127826533 131598 A G 1449 PASS VARTYPE=1;BGN=0.00104216;ARL=205;DER=89;DEA=60;QR=36;QA=37;PBP=755;PBM=708;TYPE=SNP;DBXREF=dbSNP:rs1060743,g1000:0.3546,esp5400:0.2720,ExAC:0.3340,clinvar:rs1060743,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:83228,GnomAD_AN_exome:246164,GnomAD_AC_genome:8901,GnomAD_AN_genome:30838,GnomAD:0.3326;SGVEP=BIN1|-|NM_001320632|6|c.486T>C|p.(Thr162:)|synonymous GT:DP:AD:DP4 0/1:158:94,64:48,46,33,31 2 127839474 148555195 G A 837 off_target VARTYPE=1;BGN=0.00104216;ARL=212;DER=69;DEA=49;QR=34;QA=37;PBP=429;PBM=418;TYPE=SNP;DBXREF=dbSNP:rs11682128,g1000:0.2831,GnomAD_AC_genome:10094,GnomAD_AN_genome:30826,GnomAD:0.3275;SGVEP=BIN1|-|NM_001320632|2|c.85-5192C>T|.|intronic GT:DP:AD:DP4 0/1:108:70,38:32,38,19,19 2 127839534 148555201 T C 201 off_target VARTYPE=1;BGN=0.00125468;ARL=241;DER=62;DEA=54;QR=35;QA=36;PBP=102;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs11690153,g1000:0.1064,GnomAD_AC_genome:4581,GnomAD_AN_genome:30900,GnomAD:0.1483;SGVEP=BIN1|-|NM_001320632|2|c.85-5252A>G|.|intronic GT:DP:AD:DP4 0/1:40:30,10:16,14,5,5 2 127864546 148556574 G A 830 off_target VARTYPE=1;BGN=0.00125468;ARL=219;DER=56;DEA=66;QR=35;QA=36;PBP=396;PBM=442;TYPE=SNP;DBXREF=dbSNP:rs11554586,g1000:0.0935,esp5400:0.1267,ExAC:0.1450,clinvar:rs11554586,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:34452,GnomAD_AN_exome:225480,GnomAD_AC_genome:4225,GnomAD_AN_genome:30836,GnomAD:0.1509;SGVEP=BIN1|-|NM_001320632|1|c.-27C>T|.|5'UTR GT:DP:AD:DP4 0/1:74:38,36:18,20,17,19 2 128180872 148573942 G T 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DER=55;DEA=102;QR=11;QA=37;PBP=2284;PBM=2520;TYPE=SNP;DBXREF=dbSNP:rs5936,g1000:0.6458,esp5400:0.7204,ExAC:0.5710,PhyloP:0.1520,MutationTaster:1.0000,GERP:0.2410,clinvar:rs5936,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:95954,GnomAD_AN_exome:141386,GnomAD_AC_genome:21205,GnomAD_AN_genome:30820,GnomAD:0.6803;SGVEP=PROC|+|NM_000312|6|c.423G>T|p.(Ser141:)|synonymous GT:DP:AD:DP4 1/1:162:0,162:0,0,77,85 2 128181028 148573965 A G 1041 off_target VARTYPE=1;BGN=0.00104216;ARL=264;DEA=66;QA=37;PBP=536;PBM=506;TYPE=SNP;DBXREF=dbSNP:rs1878844,g1000:0.9950,esp5400:0.9935,ExAC:0.9970,GnomAD_AC_exome:129941,GnomAD_AN_exome:130098,GnomAD_AC_genome:30744,GnomAD_AN_genome:30918,GnomAD:0.9979;SGVEP=PROC|+|NM_000312|6|c.535+44A>G|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,18,17 2 128184770 148574228 T C 1994 PASS VARTYPE=1;BGN=0.00125468;ARL=213;DEA=65;QA=36;PBP=984;PBM=1013;TYPE=SNP;DBXREF=dbSNP:rs5937,g1000:0.2298,esp5400:0.3282,ExAC:0.2800,clinvar:rs5937,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:66826,GnomAD_AN_exome:244450,GnomAD_AC_genome:9095,GnomAD_AN_genome:30822,GnomAD:0.2758;SGVEP=PROC|+|NM_000312|8|c.768T>C|p.(Asp256:)|synonymous GT:DP:AD:DP4 1/1:69:0,69:0,0,34,35 2 128321770 148581969 G A 1028 PASS VARTYPE=1;BGN=0.00104216;ARL=205;DER=85;DEA=88;QR=37;QA=37;PBP=529;PBM=510;TYPE=SNP;DBXREF=dbSNP:rs2404991,g1000:0.3954,esp5400:0.3961,ExAC:0.4230,PhyloP:0.0010,SIFT:0.6300,PolyPhen2:0.0070,PolyPhen2_HumDiv:0.0270,LRT:0.2120,MutationTaster:0.0000,GERP:-0.2840,GnomAD_AC_exome:90067,GnomAD_AN_exome:186256,GnomAD_AC_genome:12731,GnomAD_AN_genome:30894,GnomAD:0.4734;SGVEP=MYO7B|+|NM_001080527|3|c.61G>A|p.(Gly21Ser)|missense GT:DP:AD:DP4 0/1:136:89,47:46,43,24,23 2 128324125 . C T 105 off_target VARTYPE=1;BGN=0.00218938;ARL=250;DER=20;DEA=3;QR=22;QA=33;PBP=53;PBM=56;SP=0;TYPE=SNP;SGVEP=MYO7B|+|NM_001080527|5|c.286-93C>T|.|intronic GT:DP:AD:DP4 0/1:27:1,6:1,0,3,3 2 128324125 148582137 C CT 497 off_target VARTYPE=1;BGN=0.00218938;ARL=250;DER=20;DEA=48;QR=22;QA=33;PBP=261;PBM=241;TYPE=INDEL;DBXREF=dbSNP:rs11438188,g1000:0.9121,GnomAD_AC_genome:26113,GnomAD_AN_genome:30872,GnomAD:0.8458;SGVEP=MYO7B|+|NM_001080527|5|c.286-93_286-92insT|.|intronic GT:DP:AD:DP4 0/1:28:1,21:1,0,11,10 2 128331645 148582691 C A 1053 off_target VARTYPE=1;BGN=0.00104216;ARL=207;DER=61;DEA=64;QR=36;QA=37;PBP=518;PBM=545;TYPE=SNP;DBXREF=dbSNP:rs76746601,g1000:0.0956,esp5400:0.0539,ExAC:0.0790,GnomAD_AC_exome:18961,GnomAD_AN_exome:245254,GnomAD_AC_genome:1744,GnomAD_AN_genome:30902,GnomAD:0.0750;SGVEP=MYO7B|+|NM_001080527|7|c.735+8C>A|.|intronic GT:DP:AD:DP4 0/1:99:54,45:27,27,22,23 2 128339758 148583356 C G 564 off_target VARTYPE=1;BGN=0.00151053;ARL=266;DEA=61;QA=35;PBP=254;PBM=310;TYPE=SNP;DBXREF=dbSNP:rs17015424,g1000:0.4744,GnomAD_AC_genome:12992,GnomAD_AN_genome:30812,GnomAD:0.4217;SGVEP=MYO7B|+|NM_001080527|12|c.1201-121C>G|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,9,11 2 128342547 148583654 G A 1735 off_target VARTYPE=1;BGN=0.00125468;ARL=240;DEA=34;QA=36;PBP=840;PBM=898;TYPE=SNP;DBXREF=dbSNP:rs4662741,g1000:0.9187,GnomAD_AC_genome:27160,GnomAD_AN_genome:30936,GnomAD:0.8779;SGVEP=MYO7B|+|NM_001080527|14|c.1690+59G>A|.|intronic GT:DP:AD:DP4 1/1:60:0,60:0,0,29,31 2 128346228 148583861 A C 358 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=237;DEA=27;QA=37;PBP=149;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs11673952,g1000:0.9191,GnomAD_AC_genome:27173,GnomAD_AN_genome:30958,GnomAD:0.8777;SGVEP=MYO7B|+|NM_001080527|15|c.1854+98A>C|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,5,7 2 128350551 148584121 G A 2932 off_target VARTYPE=1;BGN=0.00104216;ARL=236;DEA=57;QA=37;PBP=1308;PBM=1634;TYPE=SNP;DBXREF=dbSNP:rs11678239,g1000:0.4756,esp5400:0.4194,ExAC:0.3970,GnomAD_AC_exome:71864,GnomAD_AN_exome:164030,GnomAD_AC_genome:12970,GnomAD_AN_genome:29006,GnomAD:0.4395;SGVEP=MYO7B|+|NM_001080527|17|c.2145+30G>A|.|intronic GT:DP:AD:DP4 1/1:99:0,99:0,0,44,55 2 128350578 148584125 TGG TGGG 1320 off_target VARTYPE=1;BGN=0.0123871;ARL=241;DER=3;DEA=48;QR=30;QA=35;HL=2;PBP=564;PBM=763;TYPE=INDEL;DBXREF=dbSNP:rs869308406,g1000:0.9790,GnomAD_AC_genome:29827,GnomAD_AN_genome:30860,GnomAD:0.9665;SGVEP=MYO7B|+|NM_001080527|17|c.2145+59dupG|.|intronic GT:DP:AD:DP4 1/1:73:2,71:2,0,31,40 2 128363530 148584864 GCC GCCC 433 off_target VARTYPE=1;BGN=0.0123871;ARL=204;DER=70;DEA=46;QR=38;QA=37;HL=2;PBP=218;PBM=218;TYPE=INDEL;DBXREF=dbSNP:rs11382004,g1000:1.0000,GnomAD_AC_exome:238794,GnomAD_AN_exome:238804,GnomAD_AC_genome:30962,GnomAD_AN_genome:30962,GnomAD:1.0000;SGVEP=MYO7B|+|NM_001080527|20|c.2424+29dupC|.|intronic GT:DP:AD:DP4 1/1:26:2,24:1,1,12,12 2 128377833 148585860 C G 795 off_target VARTYPE=1;BGN=0.000865644;ARL=256;DEA=51;QA=38;PBP=459;PBM=337;TYPE=SNP;DBXREF=dbSNP:rs2248519,g1000:0.6629,GnomAD_AC_genome:19870,GnomAD_AN_genome:30768,GnomAD:0.6458;SGVEP=MYO7B|+|NM_001080527|26|c.3321-82C>G|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,15,11 2 128378136 148585927 A C 209 off_target VARTYPE=1;BGN=0.00125468;ARL=277;DER=56;DEA=37;QR=37;QA=36;PBP=110;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs2245727,g1000:0.3658,GnomAD_AC_genome:10547,GnomAD_AN_genome:30848,GnomAD:0.3419;SGVEP=MYO7B|+|NM_001080527|26|c.3447+95A>C|.|intronic GT:DP:AD:DP4 0/1:34:24,10:10,14,5,5 2 128381808 148586230 C T 1430 PASS VARTYPE=1;BGN=0.00104216;ARL=217;DER=88;DEA=95;QR=37;QA=37;PBP=708;PBM=736;TYPE=SNP;DBXREF=dbSNP:rs13422424,g1000:0.1629,esp5400:0.1516,ExAC:0.1530,GnomAD_AC_exome:35190,GnomAD_AN_exome:215184,GnomAD_AC_genome:4735,GnomAD_AN_genome:30876,GnomAD:0.1623;SGVEP=MYO7B|+|NM_001080527|29|c.3882C>T|p.(His1294:)|synonymous GT:DP:AD:DP4 0/1:154:91,63:46,45,31,32 2 128382837 148586305 T C 347 off_target VARTYPE=1;BGN=0.00125468;ARL=271;DER=47;DEA=59;QR=34;QA=36;PBP=174;PBM=178;TYPE=SNP;DBXREF=dbSNP:rs76175605,g1000:0.0753,GnomAD_AC_genome:985,GnomAD_AN_genome:30870,GnomAD:0.0319;SGVEP=MYO7B|+|NM_001080527|30|c.3970-106T>C|.|intronic GT:DP:AD:DP4 0/1:23:9,14:5,4,7,7 2 128382859 148586310 C T 1070 off_target VARTYPE=1;BGN=0.00151053;ARL=254;DEA=51;QA=35;PBP=592;PBM=479;TYPE=SNP;DBXREF=dbSNP:rs2245297,g1000:0.6701,GnomAD_AC_genome:19951,GnomAD_AN_genome:30832,GnomAD:0.6471;SGVEP=MYO7B|+|NM_001080527|30|c.3970-84C>T|.|intronic GT:DP:AD:DP4 1/1:38:0,38:0,0,21,17 2 128386120 148586776 TGGGTG T 330 off_target VARTYPE=1;BGN=0.000865644;ARL=236;DER=47;DEA=72;QR=28;QA=148;PBP=284;PBM=71;SP=6;TYPE=INDEL;DBXREF=dbSNP:rs753459472,ExAC:0.2420,GnomAD_AC_exome:3329,GnomAD_AN_exome:14100,GnomAD_AC_genome:12200,GnomAD_AN_genome:19538,GnomAD:0.4617;SGVEP=MYO7B|+|NM_001080527|33|c.4546+39_4546+43del|.|intronic GT:DP:AD:DP4 0/1:37:15,14:8,7,11,3 2 128389343 148587166 C T 2540 off_target VARTYPE=1;BGN=0.00125468;ARL=225;DEA=54;QA=36;PBP=1216;PBM=1331;TYPE=SNP;DBXREF=dbSNP:rs10208043,g1000:0.4064,esp5400:0.3947,ExAC:0.4040,GnomAD_AC_exome:95617,GnomAD_AN_exome:240514,GnomAD_AC_genome:12238,GnomAD_AN_genome:30836,GnomAD:0.3975;SGVEP=MYO7B|+|NM_001080527|37|c.5171+15C>T|.|intronic GT:DP:AD:DP4 1/1:88:0,88:0,0,42,46 2 128389403 148587181 C G 303 off_target VARTYPE=1;BGN=0.00151053;ARL=250;DER=55;DEA=64;QR=34;QA=35;PBP=157;PBM=152;TYPE=SNP;DBXREF=dbSNP:rs139268124,g1000:0.0024,GnomAD_AC_genome:79,GnomAD_AN_genome:30940,GnomAD:0.0026;SGVEP=MYO7B|+|NM_001080527|37|c.5171+75C>G|.|intronic GT:DP:AD:DP4 0/1:34:20,14:9,11,7,7 2 128389422 148587182 G C 592 off_target VARTYPE=1;BGN=0.00151053;ARL=268;DEA=62;QA=35;PBP=254;PBM=338;TYPE=SNP;DBXREF=dbSNP:rs10183797,g1000:0.4099,GnomAD_AC_genome:12407,GnomAD_AN_genome:30872,GnomAD:0.4019;SGVEP=MYO7B|+|NM_001080527|37|c.5171+94G>C|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,9,12 2 128390689 148587319 A G 520 low_coverage;off_target VARTYPE=1;BGN=0.00181855;ARL=280;DEA=41;QA=34;PBP=329;PBM=192;TYPE=SNP;DBXREF=dbSNP:rs2009707,g1000:0.6721,GnomAD_AC_genome:20086,GnomAD_AN_genome:30842,GnomAD:0.6513;SGVEP=MYO7B|+|NM_001080527|39|c.5328-144A>G|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,12,7 2 128392622 148587537 G C 355 off_target VARTYPE=1;BGN=0.00151053;ARL=241;DER=46;DEA=47;QR=36;QA=35;PBP=207;PBM=155;TYPE=SNP;DBXREF=dbSNP:rs146138547,g1000:0.0076,GnomAD_AC_genome:97,GnomAD_AN_genome:30860,GnomAD:0.0031;SGVEP=MYO7B|+|NM_001080527|42|c.5636-73G>C|.|intronic GT:DP:AD:DP4 0/1:35:19,16:9,10,9,7 2 128392647 148587538 G T 672 off_target VARTYPE=1;BGN=0.00125468;ARL=229;DER=55;DEA=46;QR=37;QA=36;PBP=393;PBM=287;TYPE=SNP;DBXREF=dbSNP:rs60245561,g1000:0.1286,esp5400:0.1067,ExAC:0.0860,GnomAD_AC_exome:19348,GnomAD_AN_exome:203310,GnomAD_AC_genome:3394,GnomAD_AN_genome:30808,GnomAD:0.0971;SGVEP=MYO7B|+|NM_001080527|42|c.5636-48G>T|.|intronic GT:DP:AD:DP4 0/1:50:22,28:11,11,16,12 2 128393261 148587615 T C 1591 off_target VARTYPE=1;BGN=0.00125468;ARL=219;DEA=38;QA=36;PBP=811;PBM=782;TYPE=SNP;DBXREF=dbSNP:rs2255178,g1000:0.6751,esp5400:0.6954,ExAC:0.5580,GnomAD_AC_exome:106423,GnomAD_AN_exome:183048,GnomAD_AC_genome:20148,GnomAD_AN_genome:30842,GnomAD:0.5918;SGVEP=MYO7B|+|NM_001080527|43|c.5743-36T>C|.|intronic GT:DP:AD:DP4 1/1:55:0,55:0,0,28,27 2 128393289 148587625 T C 2655 off_target VARTYPE=1;BGN=0.00125468;ARL=217;DEA=49;QA=36;PBP=1360;PBM=1302;TYPE=SNP;DBXREF=dbSNP:rs2255177,g1000:0.3524,esp5400:0.3087,ExAC:0.3070,GnomAD_AC_exome:68298,GnomAD_AN_exome:216510,GnomAD_AC_genome:9741,GnomAD_AN_genome:30838,GnomAD:0.3155;SGVEP=MYO7B|+|NM_001080527|43|c.5743-8T>C|.|intronic GT:DP:AD:DP4 1/1:92:0,92:0,0,47,45 2 128393908 148587728 T C 1226 off_target VARTYPE=1;BGN=0.00125468;ARL=215;DER=49;DEA=82;QR=37;QA=36;PBP=633;PBM=603;TYPE=SNP;DBXREF=dbSNP:rs115299938,g1000:0.0070,esp5400:0.0104,ExAC:0.0099,GnomAD_AC_exome:2389,GnomAD_AN_exome:244676,GnomAD_AC_genome:209,GnomAD_AN_genome:30920,GnomAD:0.0094;SGVEP=MYO7B|+|NM_001080527|44|c.6045+9T>C|.|intronic GT:DP:AD:DP4 0/1:88:37,51:18,19,26,25 2 128394758 148587903 T C 348 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=280;DEA=30;QA=36;PBP=203;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs2255039,g1000:0.4509,ExAC:0.2980,GnomAD_AC_exome:58586,GnomAD_AN_exome:141760,GnomAD_AC_genome:13548,GnomAD_AN_genome:30772,GnomAD:0.4181;SGVEP=MYO7B|+|NM_001080527|47|c.6250-133T>C|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,7,5 2 128394875 148587939 C CA 1781 off_target VARTYPE=1;BGN=0.00151053;ARL=228;DEA=85;QA=35;PBP=873;PBM=914;TYPE=INDEL;DBXREF=dbSNP:rs59579995,g1000:0.3504,GnomAD_AC_exome:53791,GnomAD_AN_exome:152732,GnomAD_AC_genome:9495,GnomAD_AN_genome:26704,GnomAD:0.3527;SGVEP=MYO7B|+|NM_001080527|47|c.6250-16_6250-15insA|.|intronic GT:DP:AD:DP4 1/1:65:0,64:0,0,31,33 2 128394877 148587942 C T 1900 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DEA=88;QA=37;PBP=922;PBM=982;TYPE=SNP;DBXREF=dbSNP:rs56272236,g1000:0.3524,esp5400:0.0010,ExAC:0.2980,GnomAD_AC_exome:54674,GnomAD_AN_exome:170076,GnomAD_AC_genome:9532,GnomAD_AN_genome:30768,GnomAD:0.3197;SGVEP=MYO7B|+|NM_001080527|47|c.6250-14C>T|.|intronic GT:DP:AD:DP4 1/1:64:0,64:0,0,31,33 2 128849114 148614583 T C 596 PASS VARTYPE=1;BGN=0.00104216;ARL=250;DEA=45;QA=37;PBP=268;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs4476299,g1000:0.8349,ExAC:0.8580,GnomAD_AC_exome:73195,GnomAD_AN_exome:79146,GnomAD_AC_genome:28012,GnomAD_AN_genome:30944,GnomAD:0.9193;SGVEP=UGGT1|+|NM_020120|1|c.58+125T>C|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,9,11 2 128870808 148615801 T C 655 PASS VARTYPE=1;BGN=0.00104216;ARL=220;DEA=68;QA=37;PBP=328;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs4662775,g1000:0.8233,esp5400:0.8858,ExAC:0.9200,GnomAD_AC_exome:226562,GnomAD_AN_exome:244306,GnomAD_AC_genome:27737,GnomAD_AN_genome:30950,GnomAD:0.9239;SGVEP=UGGT1|+|NM_020120|6|c.672T>C|p.(Asn224:)|synonymous GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 2 128878014 148616247 G A 1555 PASS VARTYPE=1;BGN=0.000865644;ARL=214;DEA=76;QA=38;PBP=795;PBM=764;TYPE=SNP;DBXREF=dbSNP:rs4662594,g1000:0.8349,esp5400:0.8961,ExAC:0.9240,GnomAD_AC_exome:228725,GnomAD_AN_exome:245954,GnomAD_AC_genome:28029,GnomAD_AN_genome:30956,GnomAD:0.9272;SGVEP=UGGT1|+|NM_020120|9|c.957G>A|p.(Lys319:)|synonymous GT:DP:AD:DP4 1/1:51:0,51:0,0,26,25 2 128878667 148616297 T C 290 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=265;DEA=28;QA=36;PBP=145;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs6430990,g1000:0.8349,GnomAD_AC_genome:28025,GnomAD_AN_genome:30956,GnomAD:0.9053;SGVEP=UGGT1|+|NM_020120|10|c.974-106T>C|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 128880899 148616456 T A 536 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=265;DEA=57;QA=37;PBP=268;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs4480941,g1000:0.8227,GnomAD_AC_genome:27728,GnomAD_AN_genome:30954,GnomAD:0.8958;SGVEP=UGGT1|+|NM_020120|11|c.1134+79T>A|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 128890878 148617067 TG TGG 1712 off_target VARTYPE=1;BGN=0.00104216;ARL=235;DER=19;DEA=58;QR=35;QA=37;PBP=817;PBM=904;TYPE=INDEL;DBXREF=dbSNP:rs397692496,g1000:0.5727,ExAC:0.5550,GnomAD_AC_exome:137801,GnomAD_AN_exome:245918,GnomAD_AC_genome:17782,GnomAD_AN_genome:30822,GnomAD:0.5622;SGVEP=UGGT1|+|NM_020120|14|c.1497+45dupG|.|intronic GT:DP:AD:DP4 1/1:69:8,61:4,4,29,32 2 135096097 148955084 T C 464 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=271;DEA=46;QA=36;PBP=232;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs7598410,g1000:0.9665,GnomAD_AC_genome:30061,GnomAD_AN_genome:30936,GnomAD:0.9717;SGVEP=MGAT5|+|NM_002410|6|c.807+106T>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 2 135102453 148955393 TAAA TAA 511 off_target VARTYPE=1;BGN=0.0149204;ARL=268;DEA=65;QA=38;HL=3;PBP=274;PBM=237;TYPE=INDEL;DBXREF=dbSNP:rs397719490,g1000:0.2919,ExAC:0.2920,GnomAD_AC_exome:68478,GnomAD_AN_exome:238036,GnomAD_AC_genome:8246,GnomAD_AN_genome:30876,GnomAD:0.2853;SGVEP=MGAT5|+|NM_002410|8|c.978-45del|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,15,13 2 135160755 148958419 G A 271 off_target VARTYPE=1;BGN=0.00125468;ARL=216;DER=44;DEA=21;QR=36;QA=36;PBP=139;PBM=137;TYPE=SNP;DBXREF=dbSNP:rs3748900,g1000:0.3538,esp5400:0.2926,ExAC:0.3410,GnomAD_AC_exome:63610,GnomAD_AN_exome:186300,GnomAD_AC_genome:9438,GnomAD_AN_genome:30896,GnomAD:0.3363;SGVEP=MGAT5|+|NM_002410|11|c.1530+47G>A|.|intronic GT:DP:AD:DP4 0/1:29:17,12:8,9,6,6 2 135170691 . G A 229 off_target VARTYPE=1;BGN=0.00151053;ARL=272;DER=56;DEA=54;QR=36;QA=35;PBP=92;PBM=143;SP=0;TYPE=SNP;SGVEP=MGAT5|+|NM_002410|12|c.1677+105G>A|.|intronic GT:DP:AD:DP4 0/1:20:10,10:5,5,4,6 2 135893372 131701 A G 1096 PASS VARTYPE=1;BGN=0.00104216;ARL=218;DER=107;DEA=104;QR=37;QA=37;PBP=553;PBM=553;TYPE=SNP;DBXREF=dbSNP:rs10445686,g1000:0.2145,esp5400:0.1145,ExAC:0.2000,PhyloP:2.0510,SIFT:0.8450,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:0.9990,MutationTaster:1.0000,GERP:4.2600,clinvar:rs10445686,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:50246,GnomAD_AN_exome:246028,GnomAD_AC_genome:4347,GnomAD_AN_genome:30952,GnomAD:0.1971;SGVEP=RAB3GAP1|+|NM_001172435|17|c.1793A>G|p.(Asn598Ser)|missense GT:DP:AD:DP4 0/1:94:48,46:24,24,23,23 2 135911422 131705 T C 2741 PASS VARTYPE=1;BGN=0.00125468;ARL=226;DEA=64;QA=36;PBP=1389;PBM=1360;TYPE=SNP;DBXREF=dbSNP:rs17261772,g1000:0.7867,esp5400:0.4990,ExAC:0.5170,clinvar:rs17261772,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:127140,GnomAD_AN_exome:245670,GnomAD_AC_genome:16286,GnomAD_AN_genome:30926,GnomAD:0.5185;SGVEP=RAB3GAP1|+|NM_001172435|19|c.2265T>C|p.(Phe755:)|synonymous GT:DP:AD:DP4 1/1:95:0,95:0,0,48,47 2 136545844 149025300 C G 1160 off_target VARTYPE=1;BGN=0.00104216;ARL=232;DEA=45;QA=37;PBP=625;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs1042712,g1000:0.7396,esp5400:0.7851,ExAC:0.7960,clinvar:rs1042712,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:191233,GnomAD_AN_exome:240034,GnomAD_AC_genome:24676,GnomAD_AN_genome:30930,GnomAD:0.7968;SGVEP=LCT|-|NM_002299|17|c.*50G>C|.|3'UTR GT:DP:AD:DP4 1/1:39:0,39:0,0,21,18 2 136546110 149025346 A G 778 PASS VARTYPE=1;BGN=0.00104216;ARL=219;DER=68;DEA=60;QR=36;QA=37;PBP=369;PBM=418;TYPE=SNP;DBXREF=dbSNP:rs2278544,g1000:0.4415,esp5400:0.6260,ExAC:0.6210,clinvar:rs2278544,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:153107,GnomAD_AN_exome:245918,GnomAD_AC_genome:18964,GnomAD_AN_genome:30880,GnomAD:0.6216;SGVEP=LCT|-|NM_002299|17|c.5568T>C|p.(Ala1856:)|synonymous GT:DP:AD:DP4 0/1:83:49,34:24,25,16,18 2 136547067 149025409 A G 257 off_target VARTYPE=1;BGN=0.00151053;ARL=267;DER=63;DEA=22;QR=37;QA=35;PBP=152;PBM=110;TYPE=SNP;DBXREF=dbSNP:rs73958638,g1000:0.1745,GnomAD_AC_genome:2966,GnomAD_AN_genome:30924,GnomAD:0.0959;SGVEP=LCT|-|NM_002299|16|c.5563+74T>C|.|intronic GT:DP:AD:DP4 0/1:31:19,12:11,8,7,5 2 136548116 149025492 G C 464 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=271;DEA=49;QA=36;PBP=232;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs892717,g1000:0.9593,GnomAD_AC_genome:30097,GnomAD_AN_genome:30974,GnomAD:0.9717;SGVEP=LCT|-|NM_002299|15|c.5335+112C>G|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 2 136548169 149025498 A G 982 off_target VARTYPE=1;BGN=0.00104216;ARL=262;DEA=70;QA=37;PBP=506;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs892716,g1000:0.9593,GnomAD_AC_genome:30108,GnomAD_AN_genome:30986,GnomAD:0.9717;SGVEP=LCT|-|NM_002299|15|c.5335+59T>C|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,17,16 2 136548192 149025502 G A 1160 off_target VARTYPE=1;BGN=0.00104216;ARL=252;DEA=80;QA=37;PBP=625;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs1808756,g1000:0.9593,esp5400:0.9675,ExAC:0.9860,GnomAD_AC_exome:240965,GnomAD_AN_exome:243836,GnomAD_AC_genome:30098,GnomAD_AN_genome:30976,GnomAD:0.9864;SGVEP=LCT|-|NM_002299|15|c.5335+36C>T|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,21,18 2 136555484 149025917 T C 477 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=278;DEA=53;QA=37;PBP=268;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs1807356,g1000:0.3572,GnomAD_AC_genome:7973,GnomAD_AN_genome:30880,GnomAD:0.2582;SGVEP=LCT|-|NM_002299|13|c.4976+115A>G|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,9,7 2 136555659 149025952 T C 930 PASS VARTYPE=1;BGN=0.00104216;ARL=225;DER=107;DEA=105;QR=37;QA=37;PBP=470;PBM=470;TYPE=SNP;DBXREF=dbSNP:rs2322659,g1000:0.4427,esp5400:0.6124,ExAC:0.6060,PhyloP:-1.6510,SIFT:0.8660,PolyPhen2:0.0310,PolyPhen2_HumDiv:0.0130,LRT:0.9240,MutationTaster:0.0000,GERP:-8.8900,clinvar:rs2322659,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:149333,GnomAD_AN_exome:246206,GnomAD_AC_genome:18667,GnomAD_AN_genome:30840,GnomAD:0.6064;SGVEP=LCT|-|NM_002299|13|c.4916A>G|p.(Asn1639Ser)|missense GT:DP:AD:DP4 0/1:116:74,42:37,37,21,21 2 136561557 149026259 G A 778 PASS VARTYPE=1;BGN=0.000865644;ARL=213;DER=99;DEA=91;QR=38;QA=38;PBP=393;PBM=393;TYPE=SNP;DBXREF=dbSNP:rs2304371,g1000:0.6601,esp5400:0.6912,ExAC:0.7530,clinvar:rs2304371,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:186717,GnomAD_AN_exome:246080,GnomAD_AC_genome:21880,GnomAD_AN_genome:30888,GnomAD:0.7531;SGVEP=LCT|-|NM_002299|11|c.4606C>T|p.(Leu1536:)|synonymous GT:DP:AD:DP4 0/1:70:38,32:19,19,16,16 2 136561735 149026283 G A 252 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=251;DER=94;DEA=55;QR=37;QA=37;PBP=132;PBM=125;TYPE=SNP;DBXREF=dbSNP:rs2304370,g1000:0.2712,esp5400:0.2380,ExAC:0.2270,GnomAD_AC_exome:54940,GnomAD_AN_exome:243286,GnomAD_AC_genome:7084,GnomAD_AN_genome:30918,GnomAD:0.2262;SGVEP=LCT|-|NM_002299|11|c.4465-37C>T|.|intronic GT:DP:AD:DP4 0/1:18:8,10:3,5,5,5 2 136562472 149026354 G A 1318 PASS VARTYPE=1;BGN=0.00104216;ARL=221;DER=99;DEA=96;QR=36;QA=37;PBP=658;PBM=672;TYPE=SNP;DBXREF=dbSNP:rs3739022,g1000:0.2432,esp5400:0.1371,ExAC:0.1690,clinvar:rs3739022,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:41689,GnomAD_AN_exome:246090,GnomAD_AC_genome:4722,GnomAD_AN_genome:30912,GnomAD:0.1675;SGVEP=LCT|-|NM_002299|10|c.4329C>T|p.(Gly1443:)|synonymous GT:DP:AD:DP4 0/1:119:63,56:34,29,28,28 2 136565028 149026550 C G 507 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=243;DEA=40;QA=35;PBP=226;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs10928549,g1000:0.9792,GnomAD_AC_genome:30341,GnomAD_AN_genome:30912,GnomAD:0.9815;SGVEP=LCT|-|NM_002299|9|c.3905-62G>C|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,8,10 2 136567633 149026917 A G 477 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=253;DEA=55;QA=37;PBP=209;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs6430591,g1000:0.9792,GnomAD_AC_genome:30402,GnomAD_AN_genome:30976,GnomAD:0.9815;SGVEP=LCT|-|NM_002299|8|c.2354-70T>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,7,9 2 136575534 149027420 T C 2225 PASS VARTYPE=1;BGN=0.00104216;ARL=227;DEA=91;QA=37;PBP=1071;PBM=1160;TYPE=SNP;DBXREF=dbSNP:rs4954449,g1000:0.9792,esp5400:0.9766,ExAC:0.9940,PhyloP:1.5020,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:5.5600,clinvar:rs4954449,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:244483,GnomAD_AN_exome:245638,GnomAD_AC_genome:30391,GnomAD_AN_genome:30968,GnomAD:0.9937;SGVEP=LCT|-|NM_002299|6|c.1084A>G|p.(Ile362Val)|missense GT:DP:AD:DP4 1/1:75:0,75:0,0,36,39 2 136581354 149027719 T G 536 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=257;DEA=30;QA=37;PBP=268;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs895284,g1000:0.9792,GnomAD_AC_genome:30370,GnomAD_AN_genome:30946,GnomAD:0.9814;SGVEP=LCT|-|NM_002299|4|c.907+117A>C|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 136590746 149028234 C T 527 PASS VARTYPE=1;BGN=0.00104216;ARL=216;DER=97;DEA=56;QR=38;QA=37;PBP=267;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs3754689,g1000:0.3550,esp5400:0.2731,ExAC:0.2440,PhyloP:0.4080,SIFT:0.0000,PolyPhen2:0.0260,PolyPhen2_HumDiv:0.0090,LRT:0.8550,MutationTaster:0.0010,GERP:2.8100,clinvar:rs3754689,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:59135,GnomAD_AN_exome:246236,GnomAD_AC_genome:8094,GnomAD_AN_genome:30856,GnomAD:0.2426;SGVEP=LCT|-|NM_002299|2|c.655G>A|p.(Val219Ile)|missense GT:DP:AD:DP4 0/1:71:47,24:24,23,12,12 2 136622543 149030318 T G 454 off_target VARTYPE=1;BGN=0.000865644;ARL=236;DER=43;DEA=37;QR=37;QA=38;PBP=284;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs3087343,g1000:0.2179,esp5400:0.1680,ExAC:0.1870,GnomAD_AC_exome:24294,GnomAD_AN_exome:131126,GnomAD_AC_genome:4979,GnomAD_AN_genome:30938,GnomAD:0.1806;SGVEP=MCM6|-|NM_005915|7|c.1078+40A>C|.|intronic GT:DP:AD:DP4 0/1:35:17,18:9,8,11,7 2 136622825 149030356 A G 310 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=276;DEA=33;QA=35;PBP=113;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs309177,g1000:0.9792,GnomAD_AC_genome:30378,GnomAD_AN_genome:30950,GnomAD:0.9815;SGVEP=MCM6|-|NM_005915|7|c.928-92T>C|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,4,7 2 136633771 149031127 T C 1158 off_target VARTYPE=1;BGN=0.00125468;ARL=240;DEA=73;QA=36;PBP=609;PBM=551;TYPE=SNP;DBXREF=dbSNP:rs191079,g1000:0.6753,GnomAD_AC_genome:15167,GnomAD_AN_genome:30742,GnomAD:0.4934;SGVEP=MCM6|-|NM_005915|1|c.107+58A>G|.|intronic GT:DP:AD:DP4 1/1:40:0,40:0,0,21,19 2 136633962 149031166 G A 618 off_target VARTYPE=1;BGN=0.00104216;ARL=197;DER=45;DEA=54;QR=35;QA=37;PBP=328;PBM=298;TYPE=SNP;DBXREF=dbSNP:rs1057031,g1000:0.2372,esp5400:0.1637,ExAC:0.1920,GnomAD_AC_exome:39659,GnomAD_AN_exome:186412,GnomAD_AC_genome:5608,GnomAD_AN_genome:30892,GnomAD:0.2083;SGVEP=MCM6|-|NM_005915|1|c.-27C>T|.|5'UTR GT:DP:AD:DP4 0/1:67:40,27:19,21,14,13 2 136873549 149042678 A T 296 off_target VARTYPE=1;BGN=0.00104216;ARL=233;DER=22;DEA=30;QR=35;QA=37;PBP=152;PBM=149;TYPE=SNP;DBXREF=dbSNP:rs2680880,g1000:0.1697,esp5400:0.2987,ExAC:0.3580,GnomAD_AC_exome:84962,GnomAD_AN_exome:236714,GnomAD_AC_genome:10647,GnomAD_AN_genome:30852,GnomAD:0.3573;SGVEP=CXCR4|-|NM_001348056|3|c.229-67T>A|.|intronic GT:DP:AD:DP4 0/1:23:11,12:5,6,6,6 2 136874004 149042700 A G 641 off_target VARTYPE=1;BGN=0.00125468;ARL=240;DER=41;DEA=52;QR=36;QA=36;PBP=320;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs2471859,g1000:0.2927,GnomAD_AC_genome:8560,GnomAD_AN_genome:30798,GnomAD:0.2779;SGVEP=CXCR4|-|NM_001348056|2|c.228+42T>C|.|intronic GT:DP:AD:DP4 0/1:42:16,26:9,7,13,13 2 143787161 149398601 C A 536 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=213;DEA=59;QA=37;PBP=268;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs6429999,g1000:0.5891,esp5400:0.6024,ExAC:0.6660,GnomAD_AC_exome:158562,GnomAD_AN_exome:235670,GnomAD_AC_genome:19505,GnomAD_AN_genome:30762,GnomAD:0.6683;SGVEP=KYNU|+|NM_001199241|12|c.903-35C>A|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 143787274 149398616 C T 596 off_target VARTYPE=1;BGN=0.00104216;ARL=219;DEA=52;QA=37;PBP=298;PBM=298;TYPE=SNP;DBXREF=dbSNP:rs6430000,g1000:0.9760,esp5400:0.9919,ExAC:0.9880,GnomAD_AC_exome:242586,GnomAD_AN_exome:245812,GnomAD_AC_genome:30641,GnomAD_AN_genome:30980,GnomAD:0.9871;SGVEP=KYNU|+|NM_001199241|12|c.955+26C>T|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 2 148657117 149630616 G A 448 PASS VARTYPE=1;BGN=0.000865644;ARL=190;DER=62;DEA=90;QR=37;QA=38;PBP=214;PBM=241;TYPE=SNP;DBXREF=dbSNP:rs1128919,g1000:0.3526,esp5400:0.3153,ExAC:0.3490,GnomAD_AC_exome:86782,GnomAD_AN_exome:245382,GnomAD_AC_genome:10147,GnomAD_AN_genome:30846,GnomAD:0.3509;SGVEP=ACVR2A|+|NM_001278579|4|c.354G>A|p.(Pro118:)|synonymous GT:DP:AD:DP4 0/1:49:30,19:15,15,9,10 2 148674797 149631443 G C 362 off_target VARTYPE=1;BGN=0.00104216;ARL=251;DER=62;DEA=56;QR=35;QA=37;PBP=183;PBM=183;TYPE=SNP;DBXREF=dbSNP:rs3764955,g1000:0.2738,GnomAD_AC_genome:8239,GnomAD_AN_genome:30832,GnomAD:0.2672;SGVEP=ACVR2A|+|NM_001278579|7|c.673-55G>C|.|intronic GT:DP:AD:DP4 0/1:22:8,14:4,4,7,7 2 148733548 149634527 TAAAAAAA TAAAAAAAA 132 off_target VARTYPE=1;BGN=0.0352792;ARL=208;DER=65;DEA=82;QR=38;QA=44;HL=7;PBP=70;PBM=67;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs397719519,g1000:0.6462,ExAC:0.5940,GnomAD_AC_exome:143500,GnomAD_AN_exome:244158,GnomAD_AC_genome:19309,GnomAD_AN_genome:30870,GnomAD:0.5920;SGVEP=ORC4|-|NM_001190879|3|c.-17-5dupT|.|intronic GT:DP:AD:DP4 0/1:27:15,12:7,8,6,6 2 149520214 149671760 C A 477 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=232;DEA=45;QA=37;PBP=238;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs10193313,g1000:0.5248,esp5400:0.6945,ExAC:0.6460,GnomAD_AC_exome:114405,GnomAD_AN_exome:169118,GnomAD_AC_genome:20517,GnomAD_AN_genome:30840,GnomAD:0.6748;SGVEP=EPC2|+|NM_015630|6|c.816-25C>A|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 2 150426362 149711478 T C 223 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=295;DER=36;DEA=44;QR=38;QA=38;PBP=111;PBM=115;TYPE=SNP;DBXREF=dbSNP:rs6923,g1000:0.5531,clinvar:rs6923,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:15682,GnomAD_AN_genome:30904,GnomAD:0.5074;SGVEP=MMADHC|-|NM_015702|8|c.*126A>G|.|3'UTR GT:DP:AD:DP4 0/1:11:3,8:2,1,4,4 2 150426399 149711479 A G 428 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=283;DEA=65;QA=38;PBP=214;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs6742604,g1000:0.9960,clinvar:rs6742604,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:30906,GnomAD_AN_genome:30970,GnomAD:0.9979;SGVEP=MMADHC|-|NM_015702|8|c.*89T>C|.|3'UTR GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 150427516 149711580 C T 417 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=247;DEA=51;QA=37;PBP=209;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs4500908,g1000:0.6218,GnomAD_AC_genome:20435,GnomAD_AN_genome:30904,GnomAD:0.6612;SGVEP=MMADHC|-|NM_015702|7|c.696+83G>A|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 150432377 149711899 C G 863 off_target VARTYPE=1;BGN=0.00104216;ARL=214;DEA=36;QA=37;PBP=417;PBM=447;TYPE=SNP;DBXREF=dbSNP:rs12232959,g1000:0.6216,esp5400:0.6220,ExAC:0.7310,clinvar:rs12232959,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:165179,GnomAD_AN_exome:219734,GnomAD_AC_genome:20430,GnomAD_AN_genome:30882,GnomAD:0.7406;SGVEP=MMADHC|-|NM_015702|6|c.479-22G>C|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,14,15 2 150432976 132095 C T 1555 PASS VARTYPE=1;BGN=0.000865644;ARL=219;DEA=64;QA=38;PBP=795;PBM=764;TYPE=SNP;DBXREF=dbSNP:rs11545261,g1000:0.7596,esp5400:0.7712,ExAC:0.8680,clinvar:rs11545261,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:215209,GnomAD_AN_exome:246116,GnomAD_AC_genome:24735,GnomAD_AN_genome:30904,GnomAD:0.8662;SGVEP=MMADHC|-|NM_015702|5|c.453G>A|p.(Gln151:)|synonymous GT:DP:AD:DP4 1/1:51:0,51:0,0,26,25 2 150433128 149711992 C G 596 off_target VARTYPE=1;BGN=0.00104216;ARL=248;DEA=62;QA=37;PBP=298;PBM=298;TYPE=SNP;DBXREF=dbSNP:rs11680630,g1000:0.6314,GnomAD_AC_genome:20828,GnomAD_AN_genome:30906,GnomAD:0.6739;SGVEP=MMADHC|-|NM_015702|5|c.373-72G>C|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 2 150443689 149712589 C G 435 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=258;DEA=51;QA=36;PBP=203;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs4667420,g1000:0.6885,esp5400:0.7829,GnomAD_AC_genome:23139,GnomAD_AN_genome:30940,GnomAD:0.7479;SGVEP=MMADHC|-|NM_015702|2|c.-52-26G>C|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,7,8 2 152342481 149808021 A G 877 off_target VARTYPE=1;BGN=0.00104216;ARL=231;DER=60;DEA=41;QR=37;QA=37;PBP=399;PBM=485;TYPE=SNP;DBXREF=dbSNP:rs16830090,g1000:0.2486,esp5400:0.2294,ExAC:0.2860,clinvar:rs16830090,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:71014,GnomAD_AN_exome:240760,GnomAD_AC_genome:7915,GnomAD_AN_genome:30918,GnomAD:0.2905;SGVEP=NEB|-|NM_001164507|182|c.25405-34T>C|.|intronic GT:DP:AD:DP4 0/1:45:12,33:6,6,15,18 2 152346979 132108 T C 1554 PASS VARTYPE=1;BGN=0.00104216;ARL=211;DER=102;DEA=94;QR=37;QA=37;PBP=811;PBM=757;TYPE=SNP;DBXREF=dbSNP:rs1061305,g1000:0.3343,esp5400:0.4222,ExAC:0.3640,PhyloP:0.0510,SIFT:0.8620,PolyPhen2:0.0430,PolyPhen2_HumDiv:0.0150,LRT:0.9950,MutationTaster:1.0000,GERP:0.3970,clinvar:rs1061305,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:86118,GnomAD_AN_exome:234738,GnomAD_AC_genome:12558,GnomAD_AN_genome:30868,GnomAD:0.3715;SGVEP=NEB|-|NM_001164507|180|c.25204A>G|p.(Ile8402Val)|missense GT:DP:AD:DP4 0/1:161:93,68:46,47,35,33 2 152348842 149808459 T A 658 off_target VARTYPE=1;BGN=0.00104216;ARL=233;DER=70;DEA=105;QR=37;QA=37;PBP=362;PBM=304;TYPE=SNP;DBXREF=dbSNP:rs2288193,g1000:0.2017,esp5400:0.2669,ExAC:0.2940,clinvar:rs2288193,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:70412,GnomAD_AN_exome:233856,GnomAD_AC_genome:8457,GnomAD_AN_genome:30936,GnomAD:0.2979;SGVEP=NEB|-|NM_001164507|178|c.24874-47A>T|.|intronic GT:DP:AD:DP4 0/1:62:34,28:16,18,15,13 2 152349026 132115 G A 2048 off_target VARTYPE=1;BGN=0.00104216;ARL=216;DEA=48;QA=37;PBP=1011;PBM=1041;TYPE=SNP;DBXREF=dbSNP:rs2288195,g1000:0.6384,esp5400:0.6433,ExAC:0.6600,clinvar:rs2288195,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:161521,GnomAD_AN_exome:242056,GnomAD_AC_genome:20283,GnomAD_AN_genome:30864,GnomAD:0.6661;SGVEP=NEB|-|NM_001164507|177|c.24766-18C>T|.|intronic GT:DP:AD:DP4 1/1:69:0,69:0,0,34,35 2 152350462 149808634 T C 506 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=263;DEA=43;QA=37;PBP=238;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs4664455,g1000:0.6412,GnomAD_AC_genome:20329,GnomAD_AN_genome:30878,GnomAD:0.6584;SGVEP=NEB|-|NM_001164507|175|c.24580-81A>G|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,8,9 2 152352843 132119 C G 611 PASS VARTYPE=1;BGN=0.000865644;ARL=220;DEA=106;QA=38;PBP=306;PBM=306;TYPE=SNP;DBXREF=dbSNP:rs7575451,g1000:0.6278,esp5400:0.6306,ExAC:0.6390,PhyloP:0.6070,SIFT:0.9240,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:4.1100,clinvar:rs7575451,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:156984,GnomAD_AN_exome:242088,GnomAD_AC_genome:20072,GnomAD_AN_genome:30882,GnomAD:0.6486;SGVEP=NEB|-|NM_001164507|173|c.24433G>C|p.(Ala8145Pro)|missense GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 2 152353395 149808889 T G 140 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=218;DER=49;DEA=50;QR=37;QA=37;PBP=72;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10497081,g1000:0.2029,GnomAD_AC_genome:8498,GnomAD_AN_genome:30912,GnomAD:0.2749;SGVEP=NEB|-|NM_001164507|172|c.24393+60A>C|.|intronic GT:DP:AD:DP4 0/1:16:10,6:5,5,3,3 2 152369117 149809955 T C 290 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=274;DEA=46;QA=36;PBP=145;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs13023600,g1000:0.9966,GnomAD_AC_genome:30891,GnomAD_AN_genome:30968,GnomAD:0.9975;SGVEP=NEB|-|NM_001164507|161|c.23346+130A>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 152374800 149810353 G A 1389 off_target VARTYPE=1;BGN=0.00125468;ARL=229;DEA=60;QA=36;PBP=695;PBM=695;TYPE=SNP;DBXREF=dbSNP:rs16830136,g1000:0.5359,esp5400:0.5937,ExAC:0.5890,clinvar:rs16830136,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:147117,GnomAD_AN_exome:245908,GnomAD_AC_genome:18504,GnomAD_AN_genome:30892,GnomAD:0.5983;SGVEP=NEB|-|NM_001164507|156|c.22800+32C>T|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,24,24 2 152381895 149810853 G A 550 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=260;DEA=21;QA=38;PBP=214;PBM=337;TYPE=SNP;DBXREF=dbSNP:rs2288196,g1000:0.5443,GnomAD_AC_genome:18523,GnomAD_AN_genome:30916,GnomAD:0.5991;SGVEP=NEB|-|NM_001164507|151|c.22162-108C>T|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,7,11 2 152382329 149810872 G A 268 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=286;DEA=53;QA=37;PBP=119;PBM=149;TYPE=SNP;DBXREF=dbSNP:rs7597735,g1000:0.5946,GnomAD_AC_genome:18979,GnomAD_AN_genome:30912,GnomAD:0.6140;SGVEP=NEB|-|NM_001164507|150|c.22161+143C>T|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,4,5 2 152382454 132142 C G 2638 off_target VARTYPE=1;BGN=0.00104216;ARL=223;DEA=62;QA=37;PBP=1367;PBM=1278;TYPE=SNP;DBXREF=dbSNP:rs6721666,g1000:0.5457,esp5400:0.5969,ExAC:0.5940,clinvar:rs6721666,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:148215,GnomAD_AN_exome:245938,GnomAD_AC_genome:18536,GnomAD_AN_genome:30924,GnomAD:0.6023;SGVEP=NEB|-|NM_001164507|150|c.22161+18G>C|.|intronic GT:DP:AD:DP4 1/1:89:0,89:0,0,46,43 2 152383913 149811056 T C 566 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=241;DEA=48;QA=37;PBP=298;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs2288198,g1000:0.6068,GnomAD_AC_genome:19476,GnomAD_AN_genome:30900,GnomAD:0.6303;SGVEP=NEB|-|NM_001164507|147|c.21840+82A>G|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,10,9 2 152387553 132150 T C 2253 PASS VARTYPE=1;BGN=0.00125468;ARL=208;DER=62;DEA=103;QR=17;QA=36;PBP=1158;PBM=1100;TYPE=SNP;DBXREF=dbSNP:rs4664475,g1000:0.4916,esp5400:0.5549,ExAC:0.5770,clinvar:rs4664475,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:144186,GnomAD_AN_exome:244904,GnomAD_AC_genome:17393,GnomAD_AN_genome:30892,GnomAD:0.5859;SGVEP=NEB|-|NM_001164507|145|c.21585A>G|p.(Thr7195:)|synonymous GT:DP:AD:DP4 1/1:78:0,78:0,0,40,38 2 152388228 149811351 G C 795 off_target VARTYPE=1;BGN=0.000865644;ARL=239;DEA=36;QA=38;PBP=428;PBM=367;TYPE=SNP;DBXREF=dbSNP:rs60806638,g1000:0.5006,GnomAD_AC_genome:17375,GnomAD_AN_genome:30884,GnomAD:0.5626;SGVEP=NEB|-|NM_001164507|144|c.21522+78C>G|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,14,12 2 152388415 132154 ATT AT 851 PASS VARTYPE=1;BGN=0.0123871;ARL=213;DER=32;DEA=58;QR=37;QA=37;HL=2;PBP=405;PBM=451;TYPE=INDEL;DBXREF=dbSNP:rs56026241,g1000:0.4912,ExAC:0.5590,clinvar:rs56026241,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:125633,GnomAD_AN_exome:212778,GnomAD_AC_genome:17315,GnomAD_AN_genome:30850,GnomAD:0.5867;SGVEP=NEB|-|NM_001164507|144|c.21418-6del|.|intronic GT:DP:AD:DP4 1/1:53:4,48:2,2,23,25 2 152394534 149811733 T G 1427 off_target VARTYPE=1;BGN=0.00104216;ARL=231;DEA=90;QA=37;PBP=685;PBM=744;TYPE=SNP;DBXREF=dbSNP:rs3732310,g1000:0.4988,esp5400:0.5603,ExAC:0.5780,clinvar:rs3732310,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:141077,GnomAD_AN_exome:237642,GnomAD_AC_genome:17629,GnomAD_AN_genome:30904,GnomAD:0.5910;SGVEP=NEB|-|NM_001164507|140|c.20998-44A>C|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,23,25 2 152403014 149812251 C T 358 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=250;DEA=32;QA=37;PBP=179;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs4664486,g1000:0.5244,GnomAD_AC_genome:18240,GnomAD_AN_genome:30558,GnomAD:0.5969;SGVEP=NEB|-|NM_001164507|134|c.20368-57G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 152404294 149812390 C T 1302 off_target VARTYPE=1;BGN=0.00125468;ARL=230;DEA=51;QA=36;PBP=666;PBM=637;TYPE=SNP;DBXREF=dbSNP:rs2288201,g1000:0.6240,esp5400:0.6194,ExAC:0.6130,clinvar:rs2288201,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:132071,GnomAD_AN_exome:205668,GnomAD_AC_genome:19923,GnomAD_AN_genome:30846,GnomAD:0.6426;SGVEP=NEB|-|NM_001164507|132|c.20158-42G>A|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,23,22 2 152409809 149812759 C A 506 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=279;DEA=45;QA=37;PBP=268;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs4575719,g1000:0.4946,GnomAD_AC_genome:17416,GnomAD_AN_genome:30866,GnomAD:0.5642;SGVEP=NEB|-|NM_001164507|127|c.19731+103G>T|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 2 152417064 149813208 G A 1063 off_target VARTYPE=1;BGN=0.00125468;ARL=236;DER=41;DEA=58;QR=35;QA=36;PBP=572;PBM=501;TYPE=SNP;DBXREF=dbSNP:rs2288206,g1000:0.2889,esp5400:0.2795,ExAC:0.2540,clinvar:rs2288206,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:48257,GnomAD_AN_exome:162990,GnomAD_AC_genome:8557,GnomAD_AN_genome:30576,GnomAD:0.2935;SGVEP=NEB|-|NM_001164507|124|c.19314+42C>T|.|intronic GT:DP:AD:DP4 0/1:103:56,47:29,27,25,22 2 152417311 149813252 TCCC TCCCC 246 off_target VARTYPE=1;BGN=0.0149204;ARL=282;DER=51;DEA=66;QR=37;QA=37;HL=3;PBP=128;PBM=124;TYPE=INDEL;DBXREF=dbSNP:rs397722862,g1000:0.2071,GnomAD_AC_genome:8561,GnomAD_AN_genome:30872,GnomAD:0.2773;SGVEP=NEB|-|NM_001164507|124|c.19207-99dupG|.|intronic GT:DP:AD:DP4 0/1:31:13,18:6,7,9,9 2 152417998 149813336 G C 290 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=299;DEA=32;QA=36;PBP=116;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs55846441,g1000:0.2224,GnomAD_AC_genome:7419,GnomAD_AN_genome:30784,GnomAD:0.2410;SGVEP=NEB|-|NM_001164507|122|c.18997-172C>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,4,6 2 152417999 149813338 C T 319 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=299;DEA=30;QA=36;PBP=145;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs7424331,g1000:0.6526,GnomAD_AC_genome:20396,GnomAD_AN_genome:30604,GnomAD:0.6664;SGVEP=NEB|-|NM_001164507|122|c.18997-173G>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 2 152422076 132191 C G 506 low_coverage VARTYPE=1;BGN=0.00104216;ARL=225;DEA=95;QA=37;PBP=268;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs2288210,g1000:0.6532,esp5400:0.6476,ExAC:0.6570,PhyloP:0.9390,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.2800,clinvar:rs2288210,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:159639,GnomAD_AN_exome:239338,GnomAD_AC_genome:20758,GnomAD_AN_genome:30910,GnomAD:0.6675;SGVEP=NEB|-|NM_001164507|116|c.18305G>C|p.(Arg6102Thr)|missense GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 2 152422087 132192 A G 132 PASS VARTYPE=1;BGN=0.00104216;ARL=230;DER=94;DEA=22;QR=36;QA=37;PBP=92;PBM=44;SP=2;TYPE=SNP;DBXREF=dbSNP:rs2288211,g1000:0.2238,esp5400:0.2240,ExAC:0.2750,clinvar:rs2288211,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:68082,GnomAD_AN_exome:237572,GnomAD_AC_genome:7612,GnomAD_AN_genome:30936,GnomAD:0.2819;SGVEP=NEB|-|NM_001164507|116|c.18294T>C|p.(Tyr6098:)|synonymous GT:DP:AD:DP4 0/1:21:15,6:8,7,4,2 2 152425692 149814033 T C 426 off_target VARTYPE=1;BGN=0.00104216;ARL=244;DER=38;DEA=55;QR=36;QA=37;PBP=214;PBM=219;TYPE=SNP;DBXREF=dbSNP:rs3732312,g1000:0.2238,GnomAD_AC_genome:7607,GnomAD_AN_genome:30924,GnomAD:0.2460;SGVEP=NEB|-|NM_001164507|110|c.17535+90A>G|.|intronic GT:DP:AD:DP4 0/1:40:22,18:12,10,9,9 2 152426656 149814131 G A 1189 PASS VARTYPE=1;BGN=0.00104216;ARL=222;DER=98;DEA=95;QR=37;QA=37;PBP=642;PBM=558;TYPE=SNP;DBXREF=dbSNP:rs752014573,ExAC:0.0000,PhyloP:0.8630,SIFT:0.8980,PolyPhen2:0.0070,PolyPhen2_HumDiv:0.0010,LRT:1.0000,MutationTaster:1.0000,GERP:3.1900,GnomAD_AC_exome:5,GnomAD_AN_exome:244644,GnomAD:0.0000;SGVEP=NEB|-|NM_001164507|109|c.17369C>T|p.(Thr5790Ile)|missense GT:DP:AD:DP4 0/1:113:62,51:30,32,27,24 2 152432886 132204 G A 524 off_target VARTYPE=1;BGN=0.00104216;ARL=232;DER=30;DEA=61;QR=36;QA=37;PBP=252;PBM=279;TYPE=SNP;DBXREF=dbSNP:rs61254943,g1000:0.2640,esp5400:0.2398,ExAC:0.2670,clinvar:rs61254943,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:65646,GnomAD_AN_exome:240526,GnomAD_AC_genome:7960,GnomAD_AN_genome:29942,GnomAD:0.2721;SGVEP=NEB|-|NM_001164507|106|c.16705-18C>T|.|intronic GT:DP:AD:DP4 0/1:37:16,21:8,8,10,11 2 152435840 149814693 C G 2103 off_target VARTYPE=1;BGN=0.00125468;ARL=214;DER=46;DEA=33;QR=38;QA=36;PBP=1170;PBM=940;TYPE=SNP;DBXREF=dbSNP:rs62174689,g1000:0.3075,esp5400:0.0141,clinvar:rs62174689,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts;SGVEP=NEB|-|NM_001164507|105|c.16704+12G>C|.|intronic GT:DP:AD:DP4 1/1:76:2,74:1,1,41,33 2 152436012 149814713 T G 2386 PASS VARTYPE=1;BGN=0.00104216;ARL=220;DER=97;DEA=93;QR=37;QA=37;PBP=1166;PBM=1245;TYPE=SNP;DBXREF=dbSNP:rs62174690,esp5400:0.1030,ExAC:0.2030,PhyloP:0.9450,SIFT:0.9940,PolyPhen2:0.0830,PolyPhen2_HumDiv:0.1590,MutationTaster:1.0000,GERP:3.5700,clinvar:rs62174690,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:17452,GnomAD_AN_exome:61108,GnomAD_AC_genome:4332,GnomAD_AN_genome:22718,GnomAD:0.2599;SGVEP=NEB|-|NM_001164507|105|c.16544A>C|p.(Lys5515Thr)|missense GT:DP:AD:DP4 0/1:428:311,117:158,153,57,60 2 152437986 149814732 T C 2076 off_target VARTYPE=1;BGN=0.00104216;ARL=218;DER=46;DEA=59;QR=37;QA=37;PBP=1114;PBM=978;TYPE=SNP;DBXREF=dbSNP:rs367881797,g1000:0.0319,esp5400:0.0424,clinvar:rs367881797,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:2917,GnomAD_AN_exome:104218,GnomAD:0.0280;SGVEP=NEB|-|NM_001164507|103|c.16284+11A>G|.|intronic GT:DP:AD:DP4 0/1:153:68,85:34,34,45,40 2 152438012 149814735 G A 169 low_variant_fraction VARTYPE=1;BGN=0.00104216;ARL=209;DER=64;DEA=21;QR=37;QA=37;PBP=87;PBM=88;SP=0;TYPE=SNP;DBXREF=dbSNP:rs542916866,g1000:0.0032,clinvar:rs542916866,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:277,GnomAD_AN_exome:118732,GnomAD:0.0023;SGVEP=NEB|-|NM_001164507|103|c.16269C>T|p.(Ala5423:)|synonymous GT:DP:AD:DP4 0/1:207:195,12:99,96,6,6 2 152441905 . G C 815 off_target VARTYPE=1;BGN=0.00104216;ARL=265;DER=60;DEA=42;QR=37;QA=37;PBP=433;PBM=390;TYPE=SNP;SGVEP=NEB|-|NM_001164507|100|c.15663+116C>G|.|intronic GT:DP:AD:DP4 0/1:51:19,32:11,8,17,15 2 152442244 . G A 117 low_variant_fraction;off_target VARTYPE=1;BGN=0.000865644;ARL=280;DER=38;DEA=37;QR=34;QA=38;PBP=61;PBM=61;SP=0;TYPE=SNP;SGVEP=NEB|-|NM_001164507|100|c.15556-116C>T|.|intronic GT:DP:AD:DP4 0/1:42:36,6:18,18,3,3 2 152443055 149814785 T C 1459 off_target VARTYPE=1;BGN=0.00104216;ARL=241;DER=58;DEA=54;QR=36;QA=37;PBP=755;PBM=718;TYPE=SNP;DBXREF=dbSNP:rs144569150;SGVEP=NEB|-|NM_001164507|99|c.15451-32A>G|.|intronic GT:DP:AD:DP4 0/1:225:156,69:74,82,35,34 2 152444146 . C A 315 low_variant_fraction;off_target VARTYPE=1;BGN=0.00125468;ARL=251;DER=53;DEA=37;QR=37;QA=36;PBP=131;PBM=191;TYPE=SNP;SGVEP=NEB|-|NM_001164507|98|c.15247-55G>T|.|intronic GT:DP:AD:DP4 0/1:88:71,17:32,39,7,10 2 152446261 . T A 123 off_target VARTYPE=1;BGN=0.00151053;ARL=286;DER=37;DEA=45;QR=37;QA=35;PBP=62;PBM=65;SP=0;TYPE=SNP;SGVEP=NEB|-|NM_001164507|97|c.15246+142A>T|.|intronic GT:DP:AD:DP4 0/1:20:14,6:8,6,3,3 2 152446331 149814798 G A 951 off_target VARTYPE=1;BGN=0.00104216;ARL=245;DER=49;DEA=30;QR=36;QA=37;PBP=478;PBM=483;TYPE=SNP;DBXREF=dbSNP:rs146323641;SGVEP=NEB|-|NM_001164507|97|c.15246+72C>T|.|intronic GT:DP:AD:DP4 0/1:106:64,42:33,31,21,21 2 152446470 358737317 T C 1032 low_variant_fraction VARTYPE=1;BGN=0.00125468;ARL=217;DER=92;DEA=66;QR=37;QA=36;PBP=521;PBM=524;TYPE=SNP;DBXREF=dbSNP:rs886038444,PhyloP:1.1820,SIFT:0.7420,MutationTaster:0.9990,GERP:2.2500,clinvar:rs886038444,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts;SGVEP=NEB|-|NM_001164507|97|c.15179A>G|p.(His5060Arg)|missense GT:DP:AD:DP4 0/1:504:440,64:223,217,32,32 2 152446563 149814799 T G 264 low_variant_fraction VARTYPE=1;BGN=0.00104216;ARL=219;DER=93;DEA=62;QR=37;QA=37;PBP=128;PBM=144;TYPE=SNP;DBXREF=dbSNP:rs200053313,PhyloP:0.2390,SIFT:0.9690,MutationTaster:1.0000,GERP:0.8340,clinvar:rs200053313,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts;SGVEP=NEB|-|NM_001164507|97|c.15086A>C|p.(Lys5029Thr)|missense GT:DP:AD:DP4 0/1:474:453,21:224,229,10,11 2 152447845 149814828 G GC 2174 off_target VARTYPE=1;BGN=0.00125468;ARL=212;DER=49;DEA=58;QR=37;QA=36;PBP=1096;PBM=1100;TYPE=INDEL;DBXREF=dbSNP:rs11436831,g1000:0.1554,ExAC:0.0980,clinvar:rs11436831,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:32942,GnomAD_AN_exome:141314,GnomAD:0.2331;SGVEP=NEB|-|NM_001164507|96|c.14934+16_14934+17insG|.|intronic GT:DP:AD:DP4 0/1:467:341,114:172,169,57,57 2 152448640 149814876 T C 2210 PASS VARTYPE=1;BGN=0.00104216;ARL=209;DER=66;DEA=61;QR=37;QA=37;PBP=1108;PBM=1124;TYPE=SNP;DBXREF=dbSNP:rs10909569,esp5400:0.0152,PhyloP:0.4570,SIFT:0.7900,MutationTaster:1.0000,GERP:2.6500,clinvar:rs10909569,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:13032,GnomAD_AN_exome:105722,GnomAD:0.1233;SGVEP=NEB|-|NM_001164507|95|c.14734A>G|p.(Asn4912Asp)|missense GT:DP:AD:DP4 0/1:449:338,111:166,172,55,56 2 152452458 149814921 G C 460 off_target VARTYPE=1;BGN=0.00125468;ARL=271;DER=31;DEA=36;QR=36;QA=36;PBP=284;PBM=183;TYPE=SNP;DBXREF=dbSNP:rs140039820;SGVEP=NEB|-|NM_001164507|92|c.14205+116C>G|.|intronic GT:DP:AD:DP4 0/1:43:23,20:12,11,12,8 2 152453608 149814922 T C 1991 off_target VARTYPE=1;BGN=0.00104216;ARL=233;DER=50;DEA=54;QR=36;QA=37;PBP=1001;PBM=1008;TYPE=SNP;DBXREF=dbSNP:rs149849735;SGVEP=NEB|-|NM_001164507|91|c.13993-32A>G|.|intronic GT:DP:AD:DP4 0/1:268:176,92:90,86,46,46 2 152454699 . C A 315 off_target VARTYPE=1;BGN=0.00104216;ARL=238;DER=53;DEA=42;QR=36;QA=37;PBP=163;PBM=160;TYPE=SNP;SGVEP=NEB|-|NM_001164507|90|c.13789-55G>T|.|intronic GT:DP:AD:DP4 0/1:77:61,16:29,32,8,8 2 152456884 260518581 G A 505 off_target VARTYPE=1;BGN=0.00104216;ARL=247;DER=43;DEA=38;QR=36;QA=37;PBP=302;PBM=211;TYPE=SNP;SGVEP=NEB|-|NM_001164507|89|c.13788+72C>T|.|intronic GT:DP:AD:DP4 0/1:85:61,24:33,28,14,10 2 152457023 132206 T C 1275 low_variant_fraction VARTYPE=1;BGN=0.00104216;ARL=220;DER=88;DEA=91;QR=37;QA=37;PBP=666;PBM=625;TYPE=SNP;DBXREF=dbSNP:rs876657542,PhyloP:1.1720,SIFT:0.9010,MutationTaster:1.0000,GERP:2.5500,clinvar:rs876657542,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts;SGVEP=NEB|-|NM_001164507|89|c.13721A>G|p.(His4574Arg)|missense GT:DP:AD:DP4 0/1:473:401,72:202,199,37,35 2 152457116 132207 T G 577 low_variant_fraction VARTYPE=1;BGN=0.00125468;ARL=222;DER=102;DEA=104;QR=37;QA=36;PBP=303;PBM=284;TYPE=SNP;DBXREF=dbSNP:rs200125713,PhyloP:-0.5810,SIFT:0.9700,MutationTaster:1.0000,GERP:-3.2900,clinvar:rs200125713,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:2017,GnomAD_AN_exome:9916,GnomAD:0.2034;SGVEP=NEB|-|NM_001164507|89|c.13628A>C|p.(Lys4543Thr)|missense GT:DP:AD:DP4 0/1:524:483,41:240,243,21,20 2 152459090 132209 T C 1568 off_target VARTYPE=1;BGN=0.00104216;ARL=198;DER=58;DEA=58;QR=38;QA=37;PBP=758;PBM=823;TYPE=SNP;DBXREF=dbSNP:rs112260335,clinvar:rs112260335,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts;SGVEP=NEB|-|NM_001164507|87|c.13368+11A>G|.|intronic GT:DP:AD:DP4 0/1:134:68,66:36,32,32,34 2 152459116 132210 G A 189 low_variant_fraction VARTYPE=1;BGN=0.00125468;ARL=191;DER=76;DEA=11;QR=37;QA=36;PBP=125;PBM=71;SP=2;TYPE=SNP;DBXREF=dbSNP:rs774726264,clinvar:rs774726264,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:2,GnomAD_AN_exome:6,GnomAD:0.3333;SGVEP=NEB|-|NM_001164507|87|c.13353C>T|p.(Ala4451:)|synonymous GT:DP:AD:DP4 0/1:167:154,13:78,76,8,5 2 152464154 149815074 T C 673 off_target VARTYPE=1;BGN=0.00104216;ARL=221;DER=59;DEA=77;QR=37;QA=37;PBP=332;PBM=350;TYPE=SNP;DBXREF=dbSNP:rs4664489,g1000:0.1522,esp5400:0.1632,ExAC:0.1070,GnomAD_AC_exome:7168,GnomAD_AN_exome:52510,GnomAD:0.1365;SGVEP=NEB|-|NM_001164507|83|c.12535-32A>G|.|intronic GT:DP:AD:DP4 0/1:130:97,33:46,51,16,17 2 152465245 149815089 C A 289 low_variant_fraction;off_target VARTYPE=1;BGN=0.000865644;ARL=258;DER=60;DEA=45;QR=36;QA=38;PBP=115;PBM=182;TYPE=SNP;DBXREF=dbSNP:rs113316424,g1000:0.2296;SGVEP=NEB|-|NM_001164507|82|c.12331-55G>T|.|intronic GT:DP:AD:DP4 0/1:94:79,15:39,40,6,9 2 152465312 149815091 G A 109 low_variant_fraction;off_target VARTYPE=1;BGN=0.00151053;ARL=279;DER=45;DEA=56;QR=35;QA=35;PBP=37;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs200067860,g1000:0.4633;SGVEP=NEB|-|NM_001164507|82|c.12331-122C>T|.|intronic GT:DP:AD:DP4 0/1:33:27,6:12,15,2,4 2 152472417 149815628 C T 154 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=271;DER=49;DEA=27;QR=37;QA=38;PBP=107;PBM=51;SP=0;TYPE=SNP;DBXREF=dbSNP:rs62174707,g1000:0.1989,GnomAD_AC_genome:6086,GnomAD_AN_genome:30888,GnomAD:0.1970;SGVEP=NEB|-|NM_001164507|76|c.11289+99G>A|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,4,2 2 152474001 149815760 A G 283 off_target VARTYPE=1;BGN=0.00263583;ARL=213;DER=49;DEA=55;QR=38;QA=32;PBP=112;PBM=177;TYPE=SNP;DBXREF=dbSNP:rs4303716,esp5400:0.0546,ExAC:0.0300,GnomAD_AC_exome:8792,GnomAD_AN_exome:80468,GnomAD_AC_genome:4364,GnomAD_AN_genome:26366,GnomAD:0.1231;SGVEP=NEB|-|NM_001164507|75|c.11077-19T>C|.|intronic GT:DP:AD:DP4 0/1:39:22,15:11,11,6,9 2 152475938 149815928 T G 502 off_target VARTYPE=1;BGN=0.00104216;ARL=222;DER=49;DEA=46;QR=37;QA=37;PBP=240;PBM=270;TYPE=SNP;DBXREF=dbSNP:rs10186656,g1000:0.2488,esp5400:0.3172,ExAC:0.3270,clinvar:rs10186656,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:72315,GnomAD_AN_exome:214124,GnomAD_AC_genome:10085,GnomAD_AN_genome:30912,GnomAD:0.3363;SGVEP=NEB|-|NM_001164507|73|c.10872+27A>C|.|intronic GT:DP:AD:DP4 0/1:70:47,23:25,22,11,12 2 152476028 132227 C G 1272 PASS VARTYPE=1;BGN=0.00104216;ARL=199;DER=96;DEA=91;QR=36;QA=37;PBP=640;PBM=644;TYPE=SNP;DBXREF=dbSNP:rs10172023,g1000:0.2198,esp5400:0.2697,ExAC:0.2880,PhyloP:2.7930,SIFT:0.9990,PolyPhen2:0.9950,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.6100,clinvar:rs10172023,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:71827,GnomAD_AN_exome:245452,GnomAD_AC_genome:8548,GnomAD_AN_genome:30918,GnomAD:0.2908;SGVEP=NEB|-|NM_001164507|73|c.10809G>C|p.(Trp3603Cys)|missense GT:DP:AD:DP4 0/1:164:106,58:54,52,29,29 2 152481977 149816229 A G 1278 off_target VARTYPE=1;BGN=0.00104216;ARL=249;DEA=39;QA=37;PBP=655;PBM=625;TYPE=SNP;DBXREF=dbSNP:rs10186482,g1000:0.4565,GnomAD_AC_genome:16144,GnomAD_AN_genome:30886,GnomAD:0.5227;SGVEP=NEB|-|NM_001164507|71|c.10452+71T>C|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,22,21 2 152487574 149816722 T C 224 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=271;DER=78;DEA=76;QR=38;QA=36;PBP=128;PBM=101;TYPE=SNP;DBXREF=dbSNP:rs4233653,g1000:0.2270,GnomAD_AC_genome:7605,GnomAD_AN_genome:30950,GnomAD:0.2457;SGVEP=NEB|-|NM_001164507|66|c.9618+83A>G|.|intronic GT:DP:AD:DP4 0/1:15:6,9:3,3,5,4 2 152487963 149816805 G A 149 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=265;DER=31;DEA=39;QR=33;QA=38;PBP=76;PBM=76;SP=0;TYPE=SNP;DBXREF=dbSNP:rs752829395,GnomAD_AC_genome:4,GnomAD_AN_genome:30954,GnomAD:0.0001;SGVEP=NEB|-|NM_001164507|66|c.9415-103C>T|.|intronic GT:DP:AD:DP4 0/1:14:8,6:4,4,3,3 2 152490219 132241 A G 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=228;DEA=83;QA=37;PBP=2254;PBM=2225;TYPE=SNP;DBXREF=dbSNP:rs6709886,g1000:0.6260,esp5400:0.6067,ExAC:0.6360,clinvar:rs6709886,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:158274,GnomAD_AN_exome:245962,GnomAD_AC_genome:19250,GnomAD_AN_genome:30906,GnomAD:0.6412;SGVEP=NEB|-|NM_001164507|65|c.9363T>C|p.(Pro3121:)|synonymous GT:DP:AD:DP4 1/1:151:0,151:0,0,76,75 2 152490458 132242 A G 2991 PASS VARTYPE=1;BGN=0.00104216;ARL=232;DEA=60;QA=37;PBP=1427;PBM=1575;TYPE=SNP;DBXREF=dbSNP:rs6710212,g1000:0.9720,esp5400:0.9796,ExAC:0.9930,PhyloP:1.5640,SIFT:0.0290,MutationTaster:1.0000,GERP:6.0200,clinvar:rs6710212,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:244596,GnomAD_AN_exome:245988,GnomAD_AC_genome:30260,GnomAD_AN_genome:30968,GnomAD:0.9924;SGVEP=NEB|-|NM_001164507|65|c.9124T>C|p.(Cys3042Arg)|missense GT:DP:AD:DP4 1/1:101:0,101:0,0,48,53 2 152500449 132258 C G 2076 PASS VARTYPE=1;BGN=0.00104216;ARL=224;DER=103;DEA=108;QR=36;QA=37;PBP=1049;PBM=1045;TYPE=SNP;DBXREF=dbSNP:rs13013209,g1000:0.2933,esp5400:0.3507,ExAC:0.4140,PhyloP:2.7290,SIFT:0.9740,PolyPhen2:0.9980,PolyPhen2_HumDiv:0.9990,LRT:1.0000,MutationTaster:1.0000,GERP:5.7700,clinvar:rs13013209,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:103587,GnomAD_AN_exome:246218,GnomAD_AC_genome:10975,GnomAD_AN_genome:30886,GnomAD:0.4134;SGVEP=NEB|-|NM_001164507|57|c.7839G>C|p.(Lys2613Asn)|missense GT:DP:AD:DP4 0/1:226:134,92:66,68,46,46 2 152527572 132285 C T 3109 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DEA=86;QA=37;PBP=1575;PBM=1545;TYPE=SNP;DBXREF=dbSNP:rs7426114,g1000:0.5331,esp5400:0.6600,ExAC:0.7370,PhyloP:2.6910,SIFT:0.9700,PolyPhen2:0.4200,PolyPhen2_HumDiv:0.8200,LRT:1.0000,MutationTaster:1.0000,GERP:5.4200,clinvar:rs7426114,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:185105,GnomAD_AN_exome:246202,GnomAD_AC_genome:20521,GnomAD_AN_genome:30894,GnomAD:0.7421;SGVEP=NEB|-|NM_001164507|38|c.4471G>A|p.(Val1491Met)|missense GT:DP:AD:DP4 1/1:105:0,105:0,0,53,52 2 152531077 132296 A G 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=216;DEA=67;QA=37;PBP=1663;PBM=1723;TYPE=SNP;DBXREF=dbSNP:rs6711382,g1000:0.7161,esp5400:0.8198,ExAC:0.8260,PhyloP:1.3510,SIFT:0.5440,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0000,LRT:0.9990,MutationTaster:1.0000,GERP:5.5200,clinvar:rs6711382,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:205228,GnomAD_AN_exome:246082,GnomAD_AC_genome:24907,GnomAD_AN_genome:30920,GnomAD:0.8308;SGVEP=NEB|-|NM_001164507|36|c.3901T>C|p.(Tyr1301His)|missense GT:DP:AD:DP4 1/1:114:0,114:0,0,56,58 2 152536498 132314 T A 1545 PASS VARTYPE=1;BGN=0.00104216;ARL=240;DER=45;DEA=98;QR=9;QA=37;PBP=774;PBM=774;TYPE=SNP;DBXREF=dbSNP:rs6735208,g1000:0.5835,esp5400:0.7009,ExAC:0.7490,PhyloP:-0.2030,SIFT:0.8690,PolyPhen2:0.8550,PolyPhen2_HumDiv:0.9820,LRT:1.0000,MutationTaster:1.0000,GERP:-1.6200,clinvar:rs6735208,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:187391,GnomAD_AN_exome:246046,GnomAD_AC_genome:21442,GnomAD_AN_genome:30902,GnomAD:0.7541;SGVEP=NEB|-|NM_001164507|31|c.3081A>T|p.(Lys1027Asn)|missense GT:DP:AD:DP4 1/1:52:0,52:0,0,26,26 2 152552062 149821682 A C 1456 off_target VARTYPE=1;BGN=0.00104216;ARL=217;DEA=53;QA=37;PBP=744;PBM=714;TYPE=SNP;DBXREF=dbSNP:rs6433569,g1000:0.4988,esp5400:0.6285,ExAC:0.7160,clinvar:rs6433569,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:173889,GnomAD_AN_exome:237066,GnomAD_AC_genome:19458,GnomAD_AN_genome:30924,GnomAD:0.7215;SGVEP=NEB|-|NM_001164507|18|c.1674+30T>G|.|intronic GT:DP:AD:DP4 1/1:49:0,49:0,0,25,24 2 152573902 149822856 A AGGC 1421 off_target VARTYPE=1;BGN=0.000865644;ARL=233;DEA=52;QA=109;PBP=750;PBM=678;TYPE=INDEL;DBXREF=dbSNP:rs397718862,g1000:0.5693,ExAC:0.7370,clinvar:rs397718862,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:181208,GnomAD_AN_exome:240228,GnomAD_AC_genome:20856,GnomAD_AN_genome:30798,GnomAD:0.7456;SGVEP=NEB|-|NM_001164507|10|c.822+25_822+27dup|.|intronic GT:DP:AD:DP4 1/1:51:0,48:0,0,25,23 2 152573981 132335 A G 2697 PASS VARTYPE=1;BGN=0.00104216;ARL=213;DEA=101;QA=37;PBP=1308;PBM=1397;TYPE=SNP;DBXREF=dbSNP:rs4611637,g1000:0.5693,esp5400:0.6857,ExAC:0.7430,clinvar:rs4611637,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:185893,GnomAD_AN_exome:246044,GnomAD_AC_genome:20984,GnomAD_AN_genome:30932,GnomAD:0.7469;SGVEP=NEB|-|NM_001164507|10|c.771T>C|p.(Ala257:)|synonymous GT:DP:AD:DP4 1/1:91:0,91:0,0,44,47 2 152581866 149823326 T C 833 off_target VARTYPE=1;BGN=0.00104216;ARL=252;DER=72;DEA=36;QR=11;QA=37;PBP=417;PBM=417;TYPE=SNP;DBXREF=dbSNP:rs4300824,g1000:0.6619,GnomAD_AC_genome:23883,GnomAD_AN_genome:30932,GnomAD:0.7721;SGVEP=NEB|-|NM_001164507|6|c.402+101A>G|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,14,14 2 152584153 149823451 A C 1219 off_target VARTYPE=1;BGN=0.00104216;ARL=205;DEA=35;QA=37;PBP=625;PBM=596;TYPE=SNP;DBXREF=dbSNP:rs4664499,g1000:0.7482,GnomAD_AC_genome:26058,GnomAD_AN_genome:30936,GnomAD:0.8423;SGVEP=NEB|-|NM_001164507|5|c.294+52T>G|.|intronic GT:DP:AD:DP4 1/1:41:0,41:0,0,21,20 2 152827973 149835669 A G 1491 off_target VARTYPE=1;BGN=0.00151053;ARL=240;DEA=66;QA=35;PBP=761;PBM=732;TYPE=SNP;DBXREF=dbSNP:rs7567588,g1000:0.6448,GnomAD_AC_genome:25444,GnomAD_AN_genome:30874,GnomAD:0.8241;SGVEP=CACNB4|-|NM_000726|3|c.148-88089T>C|.|intronic GT:DP:AD:DP4 1/1:53:0,53:0,0,27,26 2 155265623 149958038 G A 128 off_target VARTYPE=1;BGN=0.000865644;ARL=219;DER=44;DEA=101;QR=37;QA=38;PBP=67;PBM=65;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1405936,g1000:0.5994,esp5400:0.5755,ExAC:0.6270,GnomAD_AC_exome:154668,GnomAD_AN_exome:244346,GnomAD_AC_genome:18701,GnomAD_AN_genome:30812,GnomAD:0.6301;SGVEP=GALNT13|+|NM_001301627|9|c.1395+29G>A|.|intronic GT:DP:AD:DP4 0/1:28:22,6:10,12,3,3 2 155306885 149960042 C T 863 off_target VARTYPE=1;BGN=0.00104216;ARL=206;DEA=36;QA=37;PBP=447;PBM=417;TYPE=SNP;DBXREF=dbSNP:rs697648,g1000:0.9822,esp5400:0.9753,ExAC:0.9940,GnomAD_AC_exome:212404,GnomAD_AN_exome:213492,GnomAD_AC_genome:30347,GnomAD_AN_genome:30930,GnomAD:0.9932;SGVEP=GALNT13|+|NM_001301627|12|c.*13-38C>T|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,15,14 2 157183211 150048328 TCCC TCC 603 off_target VARTYPE=1;BGN=0.0149204;ARL=234;DEA=54;QA=36;HL=3;PBP=310;PBM=292;TYPE=INDEL;DBXREF=dbSNP:rs398080746,g1000:0.7031,ExAC:0.7270,GnomAD_AC_exome:174302,GnomAD_AN_exome:243504,GnomAD_AC_genome:24655,GnomAD_AN_genome:30914,GnomAD:0.7250;SGVEP=NR4A2|-|NM_006186|6|c.1361+18del|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,17,16 2 157406249 150058344 G A 1291 PASS VARTYPE=1;BGN=0.00104216;ARL=229;DER=89;DEA=76;QR=36;QA=37;PBP=613;PBM=690;TYPE=SNP;DBXREF=dbSNP:rs2116665,g1000:0.6579,esp5400:0.6299,ExAC:0.6820,PhyloP:0.4120,SIFT:0.9180,PolyPhen2:0.0130,PolyPhen2_HumDiv:0.0200,LRT:0.9990,MutationTaster:0.8720,GERP:3.1700,GnomAD_AC_exome:169485,GnomAD_AN_exome:245476,GnomAD_AC_genome:19722,GnomAD_AN_genome:30922,GnomAD:0.6845;SGVEP=GPD2|+|NM_000408|7|c.791G>A|p.(Arg264His)|missense GT:DP:AD:DP4 0/1:118:63,55:31,32,26,29 2 157406296 150058357 A C 749 off_target VARTYPE=1;BGN=0.000865644;ARL=238;DER=73;DEA=66;QR=36;QA=38;PBP=310;PBM=448;TYPE=SNP;DBXREF=dbSNP:rs2116664,g1000:0.7252,esp5400:0.7111,ExAC:0.7110,GnomAD_AC_exome:173296,GnomAD_AN_exome:242104,GnomAD_AC_genome:21868,GnomAD_AN_genome:30922,GnomAD:0.7148;SGVEP=GPD2|+|NM_000408|7|c.826+12A>C|.|intronic GT:DP:AD:DP4 0/1:70:39,31:20,19,13,18 2 157427593 150059517 T C 1041 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DEA=60;QA=37;PBP=506;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs1469652,g1000:0.9820,GnomAD_AC_genome:30450,GnomAD_AN_genome:30962,GnomAD:0.9835;SGVEP=GPD2|+|NM_000408|13|c.1609-53T>C|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,17,18 2 157427837 150059552 C A 290 off_target VARTYPE=1;BGN=0.000865644;ARL=228;DER=55;DEA=37;QR=35;QA=38;PBP=151;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs1469651,g1000:0.6883,esp5400:0.6634,ExAC:0.6990,GnomAD_AC_exome:145356,GnomAD_AN_exome:205914,GnomAD_AC_genome:20637,GnomAD_AN_genome:30894,GnomAD:0.7010;SGVEP=GPD2|+|NM_000408|13|c.1767+33C>A|.|intronic GT:DP:AD:DP4 0/1:29:17,12:7,10,6,6 2 157427850 150059560 G A 239 off_target VARTYPE=1;BGN=0.000865644;ARL=232;DER=52;DEA=32;QR=37;QA=38;PBP=122;PBM=122;TYPE=SNP;DBXREF=dbSNP:rs1469650,g1000:0.6883,esp5400:0.6635,ExAC:0.6980,GnomAD_AC_exome:134898,GnomAD_AN_exome:191250,GnomAD_AC_genome:20645,GnomAD_AN_genome:30886,GnomAD:0.7002;SGVEP=GPD2|+|NM_000408|13|c.1767+46G>A|.|intronic GT:DP:AD:DP4 0/1:26:16,10:8,8,5,5 2 158115129 150090589 A T 782 PASS VARTYPE=1;BGN=0.00125468;ARL=212;DER=73;DEA=103;QR=37;QA=36;PBP=370;PBM=420;TYPE=SNP;DBXREF=dbSNP:rs61748237,g1000:0.0681,esp5400:0.1051,ExAC:0.0790,PhyloP:0.1720,SIFT:0.9780,PolyPhen2:0.0270,PolyPhen2_HumDiv:0.0750,LRT:0.0080,MutationTaster:0.0000,GERP:2.0500,GnomAD_AC_exome:18863,GnomAD_AN_exome:245174,GnomAD_AC_genome:2737,GnomAD_AN_genome:30808,GnomAD:0.0783;SGVEP=GALNT5|+|NM_014568|1|c.535A>T|p.(Thr179Ser)|missense GT:DP:AD:DP4 0/1:94:58,36:29,29,17,19 2 158140717 150092010 C T 462 off_target VARTYPE=1;BGN=0.00104216;ARL=251;DER=56;DEA=67;QR=33;QA=37;PBP=245;PBM=222;TYPE=SNP;DBXREF=dbSNP:rs2289942,g1000:0.2800,GnomAD_AC_genome:6625,GnomAD_AN_genome:30918,GnomAD:0.2143;SGVEP=GALNT5|+|NM_001329868|3|c.45-77C>T|.|intronic GT:DP:AD:DP4 1/1:22:5,17:3,2,9,8 2 158157361 150093059 C T 2077 PASS VARTYPE=1;BGN=0.00104216;ARL=232;DEA=110;QA=37;PBP=982;PBM=1100;TYPE=SNP;DBXREF=dbSNP:rs3214040,g1000:0.7989,esp5400:0.8205,ExAC:0.8650,GnomAD_AC_exome:212718,GnomAD_AN_exome:245970,GnomAD_AC_genome:25032,GnomAD_AN_genome:30900,GnomAD:0.8587;SGVEP=GALNT5|+|NM_001329868|8|c.879C>T|p.(His293:)|synonymous GT:DP:AD:DP4 1/1:70:0,70:0,0,33,37 2 158162475 150093367 C T 290 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=273;DEA=43;QA=36;PBP=145;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs3214039,g1000:0.7995,GnomAD_AC_genome:25033,GnomAD_AN_genome:30930,GnomAD:0.8093;SGVEP=GALNT5|+|NM_001329868|9|c.1110+134C>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 158165004 150093496 C T 356 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=237;DER=53;DEA=37;QR=37;QA=38;PBP=184;PBM=175;TYPE=SNP;DBXREF=dbSNP:rs6728956,g1000:0.7770,GnomAD_AC_genome:24802,GnomAD_AN_genome:30938,GnomAD:0.8017;SGVEP=GALNT5|+|NM_001329868|10|c.1111-75C>T|.|intronic GT:DP:AD:DP4 1/1:13:1,12:0,1,6,6 2 158395079 150104674 C G 1515 off_target VARTYPE=1;BGN=0.00104216;ARL=218;DEA=45;QA=37;PBP=774;PBM=744;TYPE=SNP;DBXREF=dbSNP:rs7576514,g1000:0.8446,esp5400:0.8481,ExAC:0.8640,GnomAD_AC_exome:179765,GnomAD_AN_exome:206358,GnomAD_AC_genome:26562,GnomAD_AN_genome:30934,GnomAD:0.8695;SGVEP=ACVR1C|-|NM_001111031|8|c.1206+6G>C|.|intronic GT:DP:AD:DP4 1/1:51:0,51:0,0,26,25 2 158400908 150104989 C T 551 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=259;DEA=49;QA=36;PBP=319;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs6728987,g1000:0.7845,esp5400:0.7628,ExAC:0.7980,GnomAD_AC_exome:172572,GnomAD_AN_exome:214604,GnomAD_AC_genome:24077,GnomAD_AN_genome:30770,GnomAD:0.8014;SGVEP=ACVR1C|-|NM_001111031|5|c.793+49G>A|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,11,8 2 158401137 150105027 T C 1071 off_target VARTYPE=1;BGN=0.00104216;ARL=248;DEA=69;QA=37;PBP=506;PBM=566;TYPE=SNP;DBXREF=dbSNP:rs10432556,g1000:0.7260,esp5400:0.7028,ExAC:0.7820,GnomAD_AC_exome:187797,GnomAD_AN_exome:237810,GnomAD_AC_genome:22447,GnomAD_AN_genome:30898,GnomAD:0.7824;SGVEP=ACVR1C|-|NM_001111031|5|c.626-13A>G|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,17,19 2 158626980 150115598 C T 1525 PASS VARTYPE=1;BGN=0.000865644;ARL=208;DEA=75;QA=38;PBP=795;PBM=734;TYPE=SNP;DBXREF=dbSNP:rs1146031,g1000:0.9139,esp5400:0.9111,ExAC:0.9640,clinvar:rs1146031,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:238385,GnomAD_AN_exome:245882,GnomAD_AC_genome:28444,GnomAD_AN_genome:30930,GnomAD:0.9639;SGVEP=ACVR1|-|NM_001105|7|c.690G>A|p.(Glu230:)|synonymous GT:DP:AD:DP4 1/1:50:0,50:0,0,26,24 2 158636910 150116152 G A 2785 PASS VARTYPE=1;BGN=0.00104216;ARL=218;DEA=83;QA=37;PBP=1367;PBM=1427;TYPE=SNP;DBXREF=dbSNP:rs2227861,g1000:0.6510,esp5400:0.6020,ExAC:0.7500,clinvar:rs2227861,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:187684,GnomAD_AN_exome:246000,GnomAD_AC_genome:19812,GnomAD_AN_genome:30876,GnomAD:0.7494;SGVEP=ACVR1|-|NM_001105|4|c.270C>T|p.(Ala90:)|synonymous GT:DP:AD:DP4 1/1:94:0,94:0,0,46,48 2 158637137 150116202 A G 747 off_target VARTYPE=1;BGN=0.00151053;ARL=193;DER=30;DEA=29;QR=35;QA=35;PBP=414;PBM=387;TYPE=SNP;DBXREF=dbSNP:rs1866885,g1000:0.7149,esp5400:0.5936,GnomAD_AC_genome:21066,GnomAD_AN_genome:28534,GnomAD:0.7383;SGVEP=ACVR1|-|NM_001105|4|c.68-25T>C|.|intronic GT:DP:AD:DP4 0/1:48:8,31:4,4,16,15 2 158637138 150116207 A G 109 low_variant_fraction;off_target VARTYPE=1;BGN=0.00104216;ARL=196;DER=31;DEA=93;QR=35;QA=37;PBP=56;PBM=57;SP=0;TYPE=SNP;DBXREF=dbSNP:rs35392775,g1000:0.1532,GnomAD_AC_exome:19468,GnomAD_AN_exome:108522,GnomAD_AC_genome:850,GnomAD_AN_genome:28992,GnomAD:0.1478;SGVEP=ACVR1|-|NM_001105|4|c.68-26T>C|.|intronic GT:DP:AD:DP4 0/1:47:41,6:21,20,3,3 2 160994764 150241112 A G 487 off_target VARTYPE=1;BGN=0.00125468;ARL=232;DER=98;DEA=56;QR=36;QA=36;PBP=232;PBM=260;TYPE=SNP;DBXREF=dbSNP:rs76007773,g1000:0.1915,GnomAD_AC_genome:3700,GnomAD_AN_genome:30958,GnomAD:0.1195;SGVEP=ITGB6|-|NM_000888|9|c.1108-54T>C|.|intronic GT:DP:AD:DP4 0/1:27:8,19:4,4,9,10 2 161025685 150242681 A G 250 off_target VARTYPE=1;BGN=0.000865644;ARL=204;DER=41;DEA=57;QR=37;QA=38;PBP=141;PBM=115;TYPE=SNP;DBXREF=dbSNP:rs7608557,g1000:0.2171,esp5400:0.1092,ExAC:0.1050,GnomAD_AC_exome:21482,GnomAD_AN_exome:211126,GnomAD_AC_genome:3824,GnomAD_AN_genome:30928,GnomAD:0.1045;SGVEP=ITGB6|-|NM_000888|7|c.1017+38T>C|.|intronic GT:DP:AD:DP4 0/1:35:24,11:12,12,6,5 2 161028992 150242904 T C 160 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=267;DER=44;DEA=65;QR=33;QA=38;PBP=82;PBM=82;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1037694,g1000:0.6090,GnomAD_AC_genome:18504,GnomAD_AN_genome:30940,GnomAD:0.5981;SGVEP=ITGB6|-|NM_000888|6|c.921+88A>G|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 2 161051853 150244170 A G 580 off_target VARTYPE=1;BGN=0.00151053;ARL=242;DER=63;DEA=49;QR=36;QA=35;PBP=291;PBM=296;TYPE=SNP;DBXREF=dbSNP:rs2124971,g1000:0.2280,esp5400:0.1196,ExAC:0.1100,GnomAD_AC_exome:25590,GnomAD_AN_exome:244794,GnomAD_AC_genome:4103,GnomAD_AN_genome:30952,GnomAD:0.1077;SGVEP=ITGB6|-|NM_000888|4|c.593+27T>C|.|intronic GT:DP:AD:DP4 0/1:54:28,26:15,13,13,13 2 162813807 150328019 A G 359 off_target VARTYPE=1;BGN=0.000865644;ARL=259;DER=54;DEA=66;QR=37;QA=38;PBP=169;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs10221808,g1000:0.3345,GnomAD_AC_genome:9425,GnomAD_AN_genome:30916,GnomAD:0.3049;SGVEP=SLC4A10|+|NM_001178015|20|c.2793+57A>G|.|intronic GT:DP:AD:DP4 0/1:37:22,15:11,11,7,8 2 163124051 150345549 C T 1160 PASS VARTYPE=1;BGN=0.000865644;ARL=214;DEA=86;QA=38;PBP=581;PBM=581;TYPE=SNP;DBXREF=dbSNP:rs1990760,g1000:0.3566,esp5400:0.4586,ExAC:0.5050,PhyloP:1.2430,SIFT:0.4870,PolyPhen2:0.0270,PolyPhen2_HumDiv:0.1050,LRT:0.9850,MutationTaster:1.0000,GERP:3.8700,clinvar:rs1990760,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:123983,GnomAD_AN_exome:245968,GnomAD_AC_genome:14179,GnomAD_AN_genome:30896,GnomAD:0.4990;SGVEP=IFIH1|-|NM_022168|15|c.2836G>A|p.(Ala946Thr)|missense GT:DP:AD:DP4 1/1:38:0,38:0,0,19,19 2 163128824 150345830 T C 2011 PASS VARTYPE=1;BGN=0.000865644;ARL=220;DEA=91;QA=38;PBP=947;PBM=1069;TYPE=SNP;DBXREF=dbSNP:rs3747517,g1000:0.5899,esp5400:0.6918,ExAC:0.6740,PhyloP:1.4490,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.7600,clinvar:rs3747517,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:166360,GnomAD_AN_exome:245158,GnomAD_AC_genome:20536,GnomAD_AN_genome:30880,GnomAD:0.6771;SGVEP=IFIH1|-|NM_022168|13|c.2528A>G|p.(His843Arg)|missense GT:DP:AD:DP4 1/1:66:0,66:0,0,31,35 2 165987772 132449 T G 318 PASS VARTYPE=1;BGN=0.00125468;ARL=193;DER=42;DEA=54;QR=38;QA=36;PBP=173;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs62174900,g1000:0.1817,esp5400:0.1614,ExAC:0.2020,clinvar:rs62174900,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:49182,GnomAD_AN_exome:240754,GnomAD_AC_genome:5072,GnomAD_AN_genome:30790,GnomAD:0.1998;SGVEP=SCN3A|-|NM_001081676|16|c.2400A>C|p.(Val800:)|synonymous GT:DP:AD:DP4 0/1:46:31,15:16,15,8,7 2 165996107 150485105 T A 1083 PASS VARTYPE=1;BGN=0.00104216;ARL=217;DER=64;DEA=70;QR=37;QA=37;PBP=521;PBM=572;TYPE=SNP;DBXREF=dbSNP:rs1946892,g1000:0.6346,esp5400:0.5049,ExAC:0.5070,GnomAD_AC_exome:125163,GnomAD_AN_exome:245720,GnomAD_AC_genome:15670,GnomAD_AN_genome:30894,GnomAD:0.5091;SGVEP=SCN3A|-|NM_001081676|14|c.1884A>T|p.(Thr628:)|synonymous GT:DP:AD:DP4 0/1:79:35,44:17,18,21,23 2 166003479 132456 G A 905 PASS VARTYPE=1;BGN=0.00125468;ARL=232;DER=93;DEA=109;QR=36;QA=36;PBP=419;PBM=494;TYPE=SNP;DBXREF=dbSNP:rs16850131,g1000:0.2574,esp5400:0.2238,ExAC:0.2210,clinvar:rs16850131,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:54712,GnomAD_AN_exome:245922,GnomAD_AC_genome:6653,GnomAD_AN_genome:30878,GnomAD:0.2217;SGVEP=SCN3A|-|NM_001081676|12|c.1441C>T|p.(Leu481:)|synonymous GT:DP:AD:DP4 0/1:78:39,39:19,20,18,21 2 166003573 150485561 C T 391 off_target VARTYPE=1;BGN=0.000865644;ARL=245;DER=53;DEA=87;QR=36;QA=38;PBP=198;PBM=198;TYPE=SNP;DBXREF=dbSNP:rs58539679,g1000:0.2570,esp5400:0.2217,ExAC:0.2200,GnomAD_AC_exome:54076,GnomAD_AN_exome:243502,GnomAD_AC_genome:6655,GnomAD_AN_genome:30888,GnomAD:0.2213;SGVEP=SCN3A|-|NM_001081676|12|c.1381-34G>A|.|intronic GT:DP:AD:DP4 0/1:36:20,16:10,10,8,8 2 166012203 150486001 C T 302 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=264;DER=46;DEA=34;QR=34;QA=37;PBP=164;PBM=141;TYPE=SNP;DBXREF=dbSNP:rs3731760,g1000:0.7328,GnomAD_AC_genome:22944,GnomAD_AN_genome:30912,GnomAD:0.7422;SGVEP=SCN3A|-|NM_001081676|10|c.1173+69G>A|.|intronic GT:DP:AD:DP4 1/1:14:3,11:2,1,6,5 2 166179779 132534 T C 1955 PASS VARTYPE=1;BGN=0.00104216;ARL=219;DER=107;DEA=82;QR=37;QA=37;PBP=1040;PBM=932;TYPE=SNP;DBXREF=dbSNP:rs141815642,g1000:0.0052,esp5400:0.0095,ExAC:0.0092,clinvar:rs141815642,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:2324,GnomAD_AN_exome:246054,GnomAD_AC_genome:255,GnomAD_AN_genome:30972,GnomAD:0.0093;SGVEP=SCN2A|+|NM_001040142|12|c.1785T>C|p.(Asp595:)|synonymous GT:DP:AD:DP4 0/1:183:99,84:49,50,44,40 2 166221582 150496170 C T 625 off_target VARTYPE=1;BGN=0.00104216;ARL=229;DEA=44;QA=37;PBP=298;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs3769951,g1000:0.2536,GnomAD_AC_genome:8418,GnomAD_AN_genome:30764,GnomAD:0.2736;SGVEP=SCN2A|+|NM_001040142|18|c.3400-71C>T|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,10,11 2 166229922 150496634 T C 916 off_target VARTYPE=1;BGN=0.000865644;ARL=231;DEA=37;QA=38;PBP=459;PBM=459;TYPE=SNP;DBXREF=dbSNP:rs6432821,g1000:0.9866,GnomAD_AC_genome:30571,GnomAD_AN_genome:30916,GnomAD:0.9888;SGVEP=SCN2A|+|NM_001040142|21|c.3972+65T>C|.|intronic GT:DP:AD:DP4 1/1:30:0,30:0,0,15,15 2 166231443 150496730 C T 880 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DER=79;DEA=79;QR=37;QA=37;PBP=421;PBM=468;TYPE=SNP;DBXREF=dbSNP:rs747792907,ExAC:0.0000,GnomAD_AC_exome:4,GnomAD_AN_exome:244790,GnomAD_AC_genome:2,GnomAD_AN_genome:30942,GnomAD:0.0000;SGVEP=SCN2A|+|NM_001040142|22|c.4221C>T|p.(Asn1407:)|synonymous GT:DP:AD:DP4 0/1:88:50,38:24,26,18,20 2 166245230 132657 T A 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=216;DEA=80;QA=37;PBP=2638;PBM=2520;TYPE=SNP;DBXREF=dbSNP:rs2060198,g1000:0.2494,esp5400:0.2396,ExAC:0.2850,clinvar:rs2060198,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:69983,GnomAD_AN_exome:246114,GnomAD_AC_genome:8304,GnomAD_AN_genome:30904,GnomAD:0.2826;SGVEP=SCN2A|+|NM_001040142|27|c.4914T>A|p.(Arg1638:)|synonymous GT:DP:AD:DP4 1/1:174:0,174:0,0,89,85 2 166621354 150515289 T C 927 off_target VARTYPE=1;BGN=0.00125468;ARL=242;DEA=63;QA=36;PBP=464;PBM=464;TYPE=SNP;DBXREF=dbSNP:rs2113840,g1000:0.9958,esp5400:0.9954,ExAC:0.9990,GnomAD_AC_exome:245457,GnomAD_AN_exome:245692,GnomAD_AC_genome:30836,GnomAD_AN_genome:30984,GnomAD:0.9986;SGVEP=GALNT3|-|NM_004482|3|c.688+40A>G|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,16,16 2 166626606 150515562 G A 325 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=229;DER=85;DEA=13;QR=30;QA=37;PBP=164;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs4667836,g1000:0.3405,ExAC:0.3450,GnomAD_AC_exome:75482,GnomAD_AN_exome:204462,GnomAD_AC_genome:10749,GnomAD_AN_genome:30896,GnomAD:0.3664;SGVEP=GALNT3|-|NM_004482|2|c.515+90C>T|.|intronic GT:DP:AD:DP4 0/1:16:4,12:2,2,6,6 2 166770120 132723 A G 536 low_coverage VARTYPE=1;BGN=0.00104216;ARL=210;DEA=92;QA=37;PBP=298;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs10176588,g1000:0.2774,esp5400:0.3455,ExAC:0.3290,clinvar:rs10176588,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:79746,GnomAD_AN_exome:245344,GnomAD_AC_genome:10232,GnomAD_AN_genome:30892,GnomAD:0.3257;SGVEP=TTC21B|-|NM_024753|16|c.2175T>C|p.(Phe725:)|synonymous GT:DP:AD:DP4 1/1:18:0,18:0,0,10,8 2 166771663 150523152 C T 642 off_target VARTYPE=1;BGN=0.000865644;ARL=225;DEA=35;QA=38;PBP=337;PBM=306;TYPE=SNP;DBXREF=dbSNP:rs7590559,g1000:0.3654,esp5400:0.4040,ExAC:0.3670,GnomAD_AC_exome:88570,GnomAD_AN_exome:242442,GnomAD_AC_genome:12148,GnomAD_AN_genome:30836,GnomAD:0.3686;SGVEP=TTC21B|-|NM_024753|15|c.2138+48G>A|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,11,10 2 166773971 132728 G A 2343 PASS VARTYPE=1;BGN=0.00104216;ARL=226;DEA=62;QA=37;PBP=1100;PBM=1249;TYPE=SNP;DBXREF=dbSNP:rs6750044,g1000:0.2917,esp5400:0.3604,ExAC:0.3330,clinvar:rs6750044,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:80571,GnomAD_AN_exome:245730,GnomAD_AC_genome:10612,GnomAD_AN_genome:30898,GnomAD:0.3296;SGVEP=TTC21B|-|NM_024753|14|c.1695C>T|p.(Tyr565:)|synonymous GT:DP:AD:DP4 1/1:79:0,79:0,0,37,42 2 166781242 150523825 TAAAA TAAAAA 312 low_coverage;off_target VARTYPE=1;BGN=0.0185336;ARL=250;DEA=54;QA=38;HL=4;PBP=156;PBM=156;TYPE=INDEL;DBXREF=dbSNP:rs397783596,g1000:0.2358,GnomAD_AC_genome:9050,GnomAD_AN_genome:30878,GnomAD:0.2931;SGVEP=TTC21B|-|NM_024753|12|c.1387-55dupT|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 166786137 150524113 G C 461 off_target VARTYPE=1;BGN=0.00104216;ARL=233;DER=87;DEA=56;QR=35;QA=37;PBP=235;PBM=235;TYPE=SNP;DBXREF=dbSNP:rs62177816,g1000:0.0166,esp5400:0.0340,ExAC:0.0330,GnomAD_AC_exome:8068,GnomAD_AN_exome:242932,GnomAD_AC_genome:1170,GnomAD_AN_genome:30926,GnomAD:0.0337;SGVEP=TTC21B|-|NM_024753|10|c.1185+23C>G|.|intronic GT:DP:AD:DP4 0/1:49:28,20:14,14,10,10 2 166788336 132739 T C 1100 PASS VARTYPE=1;BGN=0.00104216;ARL=228;DEA=89;QA=37;PBP=536;PBM=566;TYPE=SNP;DBXREF=dbSNP:rs7592429,g1000:0.9481,esp5400:0.9461,ExAC:0.9850,PhyloP:0.2660,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:2.1400,clinvar:rs7592429,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:243242,GnomAD_AN_exome:246052,GnomAD_AC_genome:29509,GnomAD_AN_genome:30930,GnomAD:0.9847;SGVEP=TTC21B|-|NM_024753|8|c.826A>G|p.(Thr276Ala)|missense GT:DP:AD:DP4 1/1:37:0,37:0,0,18,19 2 166799596 150524953 T C 268 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=283;DEA=28;QA=37;PBP=179;PBM=89;TYPE=SNP;DBXREF=dbSNP:rs13000534,g1000:0.9475,GnomAD_AC_genome:29511,GnomAD_AN_genome:30958,GnomAD:0.9533;SGVEP=TTC21B|-|NM_024753|5|c.552+133A>G|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,6,3 2 166799893 150525004 G A 520 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=226;DEA=42;QA=38;PBP=245;PBM=275;TYPE=SNP;DBXREF=dbSNP:rs10930190,g1000:0.9964,esp5400:0.9955,ExAC:0.9980,GnomAD_AC_exome:190826,GnomAD_AN_exome:190978,GnomAD_AC_genome:30840,GnomAD_AN_genome:30958,GnomAD:0.9988;SGVEP=TTC21B|-|NM_024753|5|c.430-42C>T|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,8,9 2 166802306 150525161 ACTGT A 258 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=255;DER=1;DEA=44;QR=36;QA=150;PBP=115;PBM=145;TYPE=INDEL;DBXREF=dbSNP:rs36017587,g1000:0.2360,GnomAD_AC_genome:8901,GnomAD_AN_genome:30800,GnomAD:0.2890;SGVEP=TTC21B|-|NM_024753|4|c.263-110_263-107del|.|intronic GT:DP:AD:DP4 1/1:11:2,9:1,1,4,5 2 166810053 150525607 C T 2461 off_target VARTYPE=1;BGN=0.00104216;ARL=221;DER=66;DEA=65;QR=7;QA=37;PBP=1427;PBM=1041;TYPE=SNP;DBXREF=dbSNP:rs6716946,g1000:0.9970,GnomAD_AC_genome:30800,GnomAD_AN_genome:30912,GnomAD:0.9964;SGVEP=TTC21B|-|NM_024753|1|c.21+142G>A|.|intronic GT:DP:AD:DP4 1/1:83:0,83:0,0,48,35 2 166810161 150525626 G GCCCGCTCA 2873 off_target VARTYPE=1;BGN=0.000865644;ARL=218;DER=62;DEA=88;QR=35;QA=293;PBP=1495;PBM=1402;TYPE=INDEL;DBXREF=dbSNP:rs569432248,g1000:0.5084,ExAC:0.5670,GnomAD_AC_genome:18107,GnomAD_AN_genome:28446,GnomAD:0.6365;SGVEP=TTC21B|-|NM_024753|1|c.21+26_21+33dup|.|intronic GT:DP:AD:DP4 0/1:185:47,112:25,22,58,54 2 166810161 150525629 G GCTCA 184 low_variant_fraction;off_target VARTYPE=1;BGN=0.000865644;ARL=218;DER=62;DEA=45;QR=35;QA=143;PBP=113;PBM=77;SP=1;TYPE=INDEL;DBXREF=dbSNP:rs569432248,ExAC:0.0014;SGVEP=TTC21B|-|NM_024753|1|c.21+33_21+34insTGAG|.|intronic GT:DP:AD:DP4 0/1:185:47,12:25,22,7,5 2 166810373 150525664 A G 1158 off_target VARTYPE=1;BGN=0.00125468;ARL=241;DEA=64;QA=36;PBP=435;PBM=724;TYPE=SNP;DBXREF=dbSNP:rs1347041,g1000:1.0000,GnomAD_AC_genome:30664,GnomAD_AN_genome:30664,GnomAD:1.0000;SGVEP=TTC21B|-|NM_024753|1|.|.|intergenic GT:DP:AD:DP4 1/1:40:0,40:0,0,15,25 2 166810433 150525671 GT G 348 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=260;DEA=49;QA=36;PBP=87;PBM=261;TYPE=INDEL;DBXREF=dbSNP:rs5836068,g1000:0.9970,GnomAD_AC_genome:30416,GnomAD_AN_genome:30542,GnomAD:0.9959;SGVEP=TTC21B|-|NM_024753|1|.|.|intergenic GT:DP:AD:DP4 1/1:12:0,12:0,0,3,9 2 166892788 133144 C T 2402 PASS VARTYPE=1;BGN=0.00104216;ARL=234;DEA=91;QA=37;PBP=1160;PBM=1249;TYPE=SNP;DBXREF=dbSNP:rs2298771,g1000:0.7885,esp5400:0.7238,ExAC:0.7250,PhyloP:-0.7780,SIFT:0.3970,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.6010,MutationTaster:0.0000,GERP:-2.8500,clinvar:rs2298771,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:177822,GnomAD_AN_exome:245320,GnomAD_AC_genome:23128,GnomAD_AN_genome:30912,GnomAD:0.7275;SGVEP=SCN1A|-|NM_001165963|16|c.3199G>A|p.(Ala1067Thr)|missense GT:DP:AD:DP4 1/1:81:0,81:0,0,39,42 2 166893081 150530222 G A 506 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=247;DEA=72;QA=37;PBP=238;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs7601520,g1000:0.7887,esp5400:0.7349,ExAC:0.7170,GnomAD_AC_exome:167577,GnomAD_AN_exome:231612,GnomAD_AC_genome:23101,GnomAD_AN_genome:30876,GnomAD:0.7264;SGVEP=SCN1A|-|NM_001165963|16|c.2947-41C>T|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,8,9 2 166894230 150530273 T C 1189 off_target VARTYPE=1;BGN=0.00104216;ARL=239;DEA=45;QA=37;PBP=625;PBM=566;TYPE=SNP;DBXREF=dbSNP:rs2020318,g1000:0.7893,GnomAD_AC_genome:23084,GnomAD_AN_genome:30870,GnomAD:0.7478;SGVEP=SCN1A|-|NM_001165963|15|c.2946+56A>G|.|intronic GT:DP:AD:DP4 1/1:40:0,40:0,0,21,19 2 166896143 150530512 T G 1186 off_target VARTYPE=1;BGN=0.00125468;ARL=247;DER=72;DEA=56;QR=27;QA=36;PBP=509;PBM=681;TYPE=SNP;DBXREF=dbSNP:rs2126152,g1000:0.7893,esp5400:0.7242,ExAC:0.7240,GnomAD_AC_exome:175262,GnomAD_AN_exome:241290,GnomAD_AC_genome:23110,GnomAD_AN_genome:30890,GnomAD:0.7288;SGVEP=SCN1A|-|NM_001165963|14|c.2416-37A>C|.|intronic GT:DP:AD:DP4 1/1:44:2,42:1,1,18,24 2 166897864 133254 A G 2540 PASS VARTYPE=1;BGN=0.00125468;ARL=215;DER=12;DEA=97;QR=9;QA=36;PBP=1244;PBM=1302;TYPE=SNP;DBXREF=dbSNP:rs6432860,g1000:0.7889,esp5400:0.7242,ExAC:0.7260,clinvar:rs6432860,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:178466,GnomAD_AN_exome:246078,GnomAD_AC_genome:23042,GnomAD_AN_genome:30792,GnomAD:0.7278;SGVEP=SCN1A|-|NM_001165963|13|c.2292T>C|p.(Val764:)|synonymous GT:DP:AD:DP4 1/1:88:0,88:0,0,43,45 2 166898017 150530658 G T 173 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=214;DER=34;DEA=56;QR=31;QA=37;PBP=25;PBM=152;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10198801,g1000:0.2081,esp5400:0.2556,ExAC:0.2800,GnomAD_AC_exome:60636,GnomAD_AN_exome:217316,GnomAD_AC_genome:7581,GnomAD_AN_genome:29852,GnomAD:0.2760;SGVEP=SCN1A|-|NM_001165963|13|c.2177-38C>A|.|intronic GT:DP:AD:DP4 0/1:14:7,7:2,5,1,6 2 166900606 150530868 A C 1308 off_target VARTYPE=1;BGN=0.00104216;ARL=245;DEA=62;QA=37;PBP=596;PBM=714;TYPE=SNP;DBXREF=dbSNP:rs6753355,g1000:0.7893,esp5400:0.7290,ExAC:0.7180,GnomAD_AC_exome:166557,GnomAD_AN_exome:229118,GnomAD_AC_genome:23130,GnomAD_AN_genome:30912,GnomAD:0.7295;SGVEP=SCN1A|-|NM_001165963|11|c.1663-47T>G|.|intronic GT:DP:AD:DP4 1/1:44:0,44:0,0,20,24 2 166901897 150530995 AGGG AGG 113 off_target VARTYPE=1;BGN=0.0149204;ARL=227;DER=54;DEA=36;QR=37;QA=37;HL=3;PBP=50;PBM=68;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs67636132,g1000:0.2161,GnomAD_AC_genome:7972,GnomAD_AN_genome:30876,GnomAD:0.2582;SGVEP=SCN1A|-|NM_001165963|10|c.1378-61del|.|intronic GT:DP:AD:DP4 0/1:20:11,9:6,5,4,5 2 166903188 150531055 A C 625 off_target VARTYPE=1;BGN=0.00104216;ARL=241;DEA=55;QA=37;PBP=358;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs538921,g1000:0.9463,GnomAD_AC_genome:29475,GnomAD_AN_genome:30936,GnomAD:0.9528;SGVEP=SCN1A|-|NM_001165963|9|c.1377+92T>G|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,12,9 2 166903228 150531057 C T 1302 off_target VARTYPE=1;BGN=0.00125468;ARL=226;DEA=62;QA=36;PBP=666;PBM=637;TYPE=SNP;DBXREF=dbSNP:rs6432861,g1000:0.4978,esp5400:0.4710,GnomAD_AC_genome:15261,GnomAD_AN_genome:30898,GnomAD:0.4939;SGVEP=SCN1A|-|NM_001165963|9|c.1377+52G>A|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,23,22 2 166903445 133342 T C 2465 PASS VARTYPE=1;BGN=0.000865644;ARL=228;DEA=85;QA=38;PBP=1251;PBM=1221;TYPE=SNP;DBXREF=dbSNP:rs7580482,g1000:0.7093,esp5400:0.6397,ExAC:0.7030,clinvar:rs7580482,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:173999,GnomAD_AN_exome:245978,GnomAD_AC_genome:20927,GnomAD_AN_genome:30920,GnomAD:0.7040;SGVEP=SCN1A|-|NM_001165963|9|c.1212A>G|p.(Val404:)|synonymous GT:DP:AD:DP4 1/1:81:0,81:0,0,41,40 2 166903494 133358 CAAAAA CAAA 1004 off_target VARTYPE=1;BGN=0.0211747;ARL=226;DER=48;DEA=58;QR=36;QA=75;HL=5;PBP=475;PBM=535;TYPE=INDEL;DBXREF=dbSNP:rs372840031,g1000:0.0118,ExAC:0.0270,clinvar:rs372840031,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:6843,GnomAD_AN_exome:244842,GnomAD_AC_genome:848,GnomAD_AN_genome:30946,GnomAD:0.0279;SGVEP=SCN1A|-|NM_001165963|9|c.1171-10_1171-9del|.|intronic GT:DP:AD:DP4 0/1:64:33,31:17,16,15,16 2 166904025 150531149 G A 520 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=265;DEA=42;QA=38;PBP=306;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs11690959,g1000:0.4932,GnomAD_AC_genome:15206,GnomAD_AN_genome:30868,GnomAD:0.4926;SGVEP=SCN1A|-|NM_001165963|8|c.1170+112C>T|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,10,7 2 166904062 150531153 G T 119 off_target VARTYPE=1;BGN=0.00151053;ARL=266;DER=55;DEA=93;QR=38;QA=35;PBP=84;PBM=40;SP=2;TYPE=SNP;DBXREF=dbSNP:rs11690962,g1000:0.2161,GnomAD_AC_genome:7990,GnomAD_AN_genome:30892,GnomAD:0.2586;SGVEP=SCN1A|-|NM_001165963|8|c.1170+75C>A|.|intronic GT:DP:AD:DP4 0/1:23:17,6:9,8,4,2 2 166904346 150531213 G A 428 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=251;DEA=33;QA=38;PBP=184;PBM=245;TYPE=SNP;DBXREF=dbSNP:rs1461193,g1000:0.7895,GnomAD_AC_genome:23122,GnomAD_AN_genome:30876,GnomAD:0.7489;SGVEP=SCN1A|-|NM_001165963|8|c.1029-68C>T|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,6,8 2 166905375 150531267 A G 337 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=232;DEA=78;QA=38;PBP=153;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs1542484,g1000:0.4980,esp5400:0.4755,ExAC:0.5220,GnomAD_AC_exome:127976,GnomAD_AN_exome:244052,GnomAD_AC_genome:15182,GnomAD_AN_genome:30786,GnomAD:0.5209;SGVEP=SCN1A|-|NM_001165963|7|c.1028+21T>C|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 2 166905480 150531297 G A 328 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=201;DEA=47;QA=37;PBP=179;PBM=149;TYPE=SNP;DBXREF=dbSNP:rs994399,g1000:0.7091,esp5400:0.6397,ExAC:0.7020,clinvar:rs994399,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:172998,GnomAD_AN_exome:244654,GnomAD_AC_genome:20881,GnomAD_AN_genome:30848,GnomAD:0.7037;SGVEP=SCN1A|-|NM_001165963|7|c.965-21C>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 2 166909544 133453 C T 447 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=263;DEA=63;QA=37;PBP=238;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs3812718,g1000:0.4934,clinvar:rs3812718,CLNSIG:drug_response,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_genome:15183,GnomAD_AN_genome:30842,GnomAD:0.4923;SGVEP=SCN1A|-|NM_001165963|5|c.603-91G>A|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 2 166909559 150531590 C A 417 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=258;DEA=41;QA=37;PBP=209;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs3812719,g1000:0.7091,GnomAD_AC_genome:20901,GnomAD_AN_genome:30880,GnomAD:0.6768;SGVEP=SCN1A|-|NM_001165963|5|c.603-106G>T|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 166930214 150532666 T A 298 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=243;DEA=15;QA=37;PBP=119;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs566839,g1000:0.9854,GnomAD_AC_genome:30634,GnomAD_AN_genome:30982,GnomAD:0.9888;SGVEP=SCN1A|-|NM_001202435|3|c.-49-34A>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,4,6 2 167056337 133544 C A 813 PASS VARTYPE=1;BGN=0.00125468;ARL=223;DER=52;DEA=54;QR=36;QA=36;PBP=427;PBM=395;TYPE=SNP;DBXREF=dbSNP:rs149207258,g1000:0.0319,esp5400:0.0714,ExAC:0.0620,clinvar:rs149207258,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:15190,GnomAD_AN_exome:246206,GnomAD_AC_genome:2121,GnomAD_AN_genome:30862,GnomAD:0.0625;SGVEP=SCN9A|-|NM_002977|27|c.4779G>T|p.(Val1593:)|synonymous GT:DP:AD:DP4 0/1:92:55,37:26,29,19,18 2 167056428 150538999 G A 122 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=226;DER=29;DEA=23;QR=38;QA=38;PBP=76;PBM=49;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4303728,g1000:0.1492,GnomAD_AC_genome:3831,GnomAD_AN_genome:29654,GnomAD:0.1292;SGVEP=SCN9A|-|NM_002977|27|c.4742-54C>T|.|intronic GT:DP:AD:DP4 0/1:13:8,5:4,4,3,2 2 167060449 150539255 A T 714 off_target VARTYPE=1;BGN=0.00104216;ARL=262;DEA=91;QA=37;PBP=358;PBM=358;TYPE=SNP;DBXREF=dbSNP:rs10180721,g1000:0.9014,esp5400:0.8896,ExAC:0.8650,clinvar:rs10180721,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:156131,GnomAD_AN_exome:176814,GnomAD_AC_genome:27768,GnomAD_AN_genome:30914,GnomAD:0.8853;SGVEP=SCN9A|-|NM_002977|26|c.4741+16T>A|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 2 167060980 133550 GAAAC G 1046 off_target VARTYPE=1;BGN=0.000865644;ARL=214;DER=8;DEA=65;QR=37;QA=152;PBP=482;PBM=571;TYPE=INDEL;DBXREF=dbSNP:rs77944059,g1000:0.8988,ExAC:0.8800,clinvar:rs77944059,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:192348,GnomAD_AN_exome:218384,GnomAD_AC_genome:27522,GnomAD_AN_genome:30700,GnomAD:0.8827;SGVEP=SCN9A|-|NM_002977|25|c.4366-10_4366-7del|.|intronic GT:DP:AD:DP4 1/1:45:8,37:4,4,17,20 2 167082978 150540442 T C 367 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=282;DEA=38;QA=38;PBP=184;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs7595255,g1000:0.8908,GnomAD_AC_genome:27502,GnomAD_AN_genome:30922,GnomAD:0.8894;SGVEP=SCN9A|-|NM_002977|24|c.4365+99A>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 167089976 133563 T C 538 PASS VARTYPE=1;BGN=0.00104216;ARL=219;DER=67;DEA=61;QR=38;QA=37;PBP=272;PBM=272;TYPE=SNP;DBXREF=dbSNP:rs75230218,g1000:0.0321,esp5400:0.0735,ExAC:0.0630,clinvar:rs75230218,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:12940,GnomAD_AN_exome:198174,GnomAD_AC_genome:2145,GnomAD_AN_genome:30868,GnomAD:0.0659;SGVEP=SCN9A|-|NM_002977|21|c.3769-4A>G|.|intronic GT:DP:AD:DP4 0/1:42:20,22:10,10,11,11 2 167090042 150540957 G A 477 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=241;DEA=47;QA=37;PBP=209;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs722204,g1000:0.7608,GnomAD_AC_genome:25229,GnomAD_AN_genome:30896,GnomAD:0.8166;SGVEP=SCN9A|-|NM_002977|21|c.3769-70C>T|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,7,9 2 167099158 133570 A G 2080 PASS VARTYPE=1;BGN=0.00125468;ARL=240;DEA=58;QA=36;PBP=1013;PBM=1071;TYPE=SNP;DBXREF=dbSNP:rs6746030,g1000:0.8872,esp5400:0.8779,ExAC:0.8520,PhyloP:0.4790,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9400,MutationTaster:0.0000,GERP:3.8300,clinvar:rs6746030,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:134106,GnomAD_AN_exome:152480,GnomAD_AC_genome:27367,GnomAD_AN_genome:30894,GnomAD:0.8806;SGVEP=SCN9A|-|NM_002977|19|c.3448T>C|p.(Trp1150Arg)|missense GT:DP:AD:DP4 1/1:72:0,72:0,0,35,37 2 167162277 150545089 G A 1278 off_target VARTYPE=1;BGN=0.00104216;ARL=234;DEA=71;QA=37;PBP=625;PBM=655;TYPE=SNP;DBXREF=dbSNP:rs4429487,g1000:0.7324,esp5400:0.7522,ExAC:0.7180,GnomAD_AC_exome:174861,GnomAD_AN_exome:245536,GnomAD_AC_genome:22636,GnomAD_AN_genome:30864,GnomAD:0.7145;SGVEP=SCN9A|-|NM_002977|5|c.596+25C>T|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,21,22 2 167163043 133644 T C 916 PASS VARTYPE=1;BGN=0.000865644;ARL=236;DEA=92;QA=38;PBP=459;PBM=459;TYPE=SNP;DBXREF=dbSNP:rs9646771,g1000:0.6412,esp5400:0.7097,ExAC:0.6050,clinvar:rs9646771,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:124230,GnomAD_AN_exome:197698,GnomAD_AC_genome:21506,GnomAD_AN_genome:30880,GnomAD:0.6376;SGVEP=SCN9A|-|NM_002977|4|c.444A>G|p.(Pro148:)|synonymous GT:DP:AD:DP4 1/1:30:0,30:0,0,15,15 2 167163199 150545189 A T 377 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=278;DEA=38;QA=36;PBP=174;PBM=203;TYPE=SNP;DBXREF=dbSNP:rs9646772,g1000:0.6496,GnomAD_AC_genome:21602,GnomAD_AN_genome:30856,GnomAD:0.7001;SGVEP=SCN9A|-|NM_002977|4|c.378-90T>A|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 2 167163663 150545259 C T 306 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=246;DEA=40;QA=38;PBP=153;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs4447616,g1000:0.6160,GnomAD_AC_genome:21098,GnomAD_AN_genome:30888,GnomAD:0.6830;SGVEP=SCN9A|-|NM_002977|3|c.259-79G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 167168093 133647 C T 2579 PASS VARTYPE=1;BGN=0.00104216;ARL=213;DEA=70;QA=37;PBP=1278;PBM=1308;TYPE=SNP;DBXREF=dbSNP:rs6432901,g1000:0.5743,esp5400:0.6703,ExAC:0.5870,clinvar:rs6432901,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:141829,GnomAD_AN_exome:246180,GnomAD_AC_genome:19409,GnomAD_AN_genome:30340,GnomAD:0.5831;SGVEP=SCN9A|-|NM_002977|2|c.174G>A|p.(Gln58:)|synonymous GT:DP:AD:DP4 1/1:87:0,87:0,0,43,44 2 167279922 150551343 C A 290 low_coverage VARTYPE=1;BGN=0.00125468;ARL=248;DEA=17;QA=36;PBP=145;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs6738031,g1000:0.7446,esp5400:0.7555,ExAC:0.6830,PhyloP:-0.6670,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0010,GERP:-1.4700,GnomAD_AC_exome:142483,GnomAD_AN_exome:204952,GnomAD_AC_genome:22750,GnomAD_AN_genome:30822,GnomAD:0.7008;SGVEP=SCN7A|-|NM_002976|18|c.2874G>T|p.(Met958Ile)|missense GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 167284520 150551621 T C 428 off_target VARTYPE=1;BGN=0.00104216;ARL=245;DER=29;DEA=44;QR=35;QA=37;PBP=222;PBM=211;TYPE=SNP;DBXREF=dbSNP:rs3748895,g1000:0.2224,GnomAD_AC_genome:8449,GnomAD_AN_genome:30858,GnomAD:0.2738;SGVEP=SCN7A|-|NM_002976|17|c.2699-68A>G|.|intronic GT:DP:AD:DP4 0/1:22:6,16:2,4,8,8 2 167322522 150553792 G A 399 off_target VARTYPE=1;BGN=0.000865644;ARL=230;DER=72;DEA=38;QR=38;QA=38;PBP=204;PBM=201;TYPE=SNP;DBXREF=dbSNP:rs7593452,g1000:0.2308,esp5400:0.2873,ExAC:0.2720,GnomAD_AC_exome:58263,GnomAD_AN_exome:186542,GnomAD_AC_genome:8612,GnomAD_AN_genome:30884,GnomAD:0.3076;SGVEP=SCN7A|-|NM_002976|7|c.665-25C>T|.|intronic GT:DP:AD:DP4 0/1:33:17,16:8,9,8,8 2 167328750 150554042 C T 580 off_target VARTYPE=1;BGN=0.00125468;ARL=252;DEA=26;QA=36;PBP=290;PBM=290;TYPE=SNP;DBXREF=dbSNP:rs2293567,g1000:0.6859,GnomAD_AC_genome:20914,GnomAD_AN_genome:30794,GnomAD:0.6792;SGVEP=SCN7A|-|NM_002976|5|c.572+77G>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 2 167334085 150554366 G T 1486 PASS VARTYPE=1;BGN=0.00104216;ARL=218;DEA=108;QA=37;PBP=744;PBM=744;TYPE=SNP;DBXREF=dbSNP:rs7565062,g1000:0.6887,esp5400:0.7035,ExAC:0.6570,PhyloP:-0.1320,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.8990,MutationTaster:0.0000,GERP:1.1100,GnomAD_AC_exome:137193,GnomAD_AN_exome:200624,GnomAD_AC_genome:21124,GnomAD_AN_genome:30826,GnomAD:0.6840;SGVEP=SCN7A|-|NM_002976|2|c.122C>A|p.(Thr41Asn)|missense GT:DP:AD:DP4 1/1:50:0,50:0,0,25,25 2 168986154 150642195 A G 792 off_target VARTYPE=1;BGN=0.00104216;ARL=226;DER=106;DEA=99;QR=38;QA=37;PBP=398;PBM=402;TYPE=SNP;DBXREF=dbSNP:rs925846,g1000:0.8029,esp5400:0.8026,ExAC:0.8150,GnomAD_AC_exome:200245,GnomAD_AN_exome:245812,GnomAD_AC_genome:25263,GnomAD_AN_genome:30926,GnomAD:0.8149;SGVEP=STK39|-|NM_013233|10|c.1024-38T>C|.|intronic GT:DP:AD:DP4 0/1:57:25,32:13,12,16,16 2 168986376 150642224 T G 406 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=241;DER=78;DEA=23;QR=31;QA=36;PBP=194;PBM=215;TYPE=SNP;DBXREF=dbSNP:rs2246258,g1000:0.7929,GnomAD_AC_genome:25186,GnomAD_AN_genome:30930,GnomAD:0.8143;SGVEP=STK39|-|NM_013233|9|c.975-108A>C|.|intronic GT:DP:AD:DP4 1/1:18:3,15:1,2,7,8 2 169103796 150648311 C CGCCGGG 1838 PASS VARTYPE=1;BGN=0.000865644;ARL=202;DER=19;DEA=86;QR=34;QA=213;PBP=833;PBM=1017;TYPE=INDEL;DBXREF=dbSNP:rs754360919,g1000:0.3658,GnomAD_AC_genome:12631,GnomAD_AN_genome:23504,GnomAD:0.5374;SGVEP=STK39|-|NM_013233|1|c.144_149dup|p.(Pro49_Ala50dup)|inframe_6 GT:DP:AD:DP4 1/1:83:15,66:8,7,30,36 2 169104054 . C CCCGCCGCCG 377 off_target VARTYPE=1;BGN=0.000865644;ARL=215;DER=5;DEA=76;QR=33;QA=320;PBP=205;PBM=180;NVF=0.19;TYPE=INDEL;SGVEP=STK39|-|NM_013233|1|c.-118_-110dup|.|5'UTR GT:DP:AD:DP4 0/1:103:9,19:6,3,10,9 2 169104054 150648364 C CCCGCCGCCGCCG 1929 off_target VARTYPE=1;BGN=0.000865644;ARL=215;DER=5;DEA=49;QR=33;QA=423;PBP=874;PBM=1073;NVF=0.80;TYPE=INDEL;DBXREF=dbSNP:rs571309687,g1000:0.4293;SGVEP=STK39|-|NM_013233|1|c.-121_-110dup|.|5'UTR GT:DP:AD:DP4 0/1:103:9,72:6,3,33,39 2 169571414 150671289 G T 385 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=280;DER=53;DEA=47;QR=37;QA=36;PBP=222;PBM=166;TYPE=SNP;DBXREF=dbSNP:rs13014488,g1000:0.2959,GnomAD_AC_genome:12109,GnomAD_AN_genome:30900,GnomAD:0.3919;SGVEP=CERS6|+|NM_001256126|7|c.610-97G>T|.|intronic GT:DP:AD:DP4 1/1:16:2,14:1,1,8,6 2 169763148 150682096 T C 1930 off_target VARTYPE=1;BGN=0.00104216;ARL=239;DEA=66;QA=37;PBP=982;PBM=952;TYPE=SNP;DBXREF=dbSNP:rs560887,g1000:0.8870,esp5400:0.7931,ExAC:0.7890,GnomAD_AC_exome:193836,GnomAD_AN_exome:245776,GnomAD_AC_genome:24473,GnomAD_AN_genome:30942,GnomAD:0.7889;SGVEP=G6PC2|+|NM_001081686|4|c.441-930T>C|.|intronic GT:DP:AD:DP4 1/1:65:0,65:0,0,33,32 2 169764176 150682214 G C 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=221;DEA=99;QA=37;PBP=1693;PBM=1723;TYPE=SNP;DBXREF=dbSNP:rs492594,g1000:0.4635,esp5400:0.4108,ExAC:0.4860,PhyloP:0.3980,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9400,MutationTaster:1.0000,GERP:3.0600,GnomAD_AC_exome:122792,GnomAD_AN_exome:246230,GnomAD_AC_genome:12948,GnomAD_AN_genome:30858,GnomAD:0.4899;SGVEP=G6PC2|+|NM_021176|5|c.655G>C|p.(Val219Leu)|missense GT:DP:AD:DP4 1/1:115:0,115:0,0,57,58 2 169764546 150682308 C G 453 PASS VARTYPE=1;BGN=0.00104216;ARL=229;DER=76;DEA=78;QR=37;QA=37;PBP=194;PBM=267;TYPE=SNP;DBXREF=dbSNP:rs2232328,g1000:0.2115,esp5400:0.2312,ExAC:0.1230,PhyloP:0.8090,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:4.8900,GnomAD_AC_exome:28538,GnomAD_AN_exome:245968,GnomAD_AC_genome:6442,GnomAD_AN_genome:30934,GnomAD:0.1263;SGVEP=G6PC2|+|NM_021176|5|c.1025C>G|p.(Ser342Cys)|missense GT:DP:AD:DP4 0/1:68:47,21:23,24,9,12 2 169780366 150683209 T C 521 off_target VARTYPE=1;BGN=0.00104216;ARL=226;DER=46;DEA=44;QR=36;QA=37;PBP=252;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs579275,g1000:0.4974,esp5400:0.4579,ExAC:0.5460,GnomAD_AC_exome:134147,GnomAD_AN_exome:241136,GnomAD_AC_genome:14442,GnomAD_AN_genome:30872,GnomAD:0.5463;SGVEP=ABCB11|-|NM_003742|28|c.3766-34A>G|.|intronic GT:DP:AD:DP4 0/1:38:17,21:8,9,10,11 2 169789016 150683750 T C 677 PASS VARTYPE=1;BGN=0.000865644;ARL=195;DER=56;DEA=53;QR=37;QA=38;PBP=345;PBM=340;TYPE=SNP;DBXREF=dbSNP:rs497692,g1000:0.4968,esp5400:0.4587,ExAC:0.5460,clinvar:rs497692,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:135653,GnomAD_AN_exome:244632,GnomAD_AC_genome:14448,GnomAD_AN_genome:30900,GnomAD:0.5448;SGVEP=ABCB11|-|NM_003742|24|c.3084A>G|p.(Ala1028:)|synonymous GT:DP:AD:DP4 0/1:91:61,30:29,32,15,15 2 169801488 150684531 A G 1427 off_target VARTYPE=1;BGN=0.00104216;ARL=242;DEA=79;QA=37;PBP=685;PBM=744;TYPE=SNP;DBXREF=dbSNP:rs853789,g1000:0.8552,esp5400:0.7510,ExAC:0.7140,clinvar:rs853789,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:98256,GnomAD_AN_exome:130348,GnomAD_AC_genome:23065,GnomAD_AN_genome:30792,GnomAD:0.7529;SGVEP=ABCB11|-|NM_003742|20|c.2344-17T>C|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,23,25 2 169828277 150686061 G A 644 off_target VARTYPE=1;BGN=0.00104216;ARL=251;DER=50;DEA=42;QR=38;QA=37;PBP=325;PBM=325;TYPE=SNP;DBXREF=dbSNP:rs2241341,g1000:0.5960,GnomAD_AC_genome:17560,GnomAD_AN_genome:30802,GnomAD:0.5701;SGVEP=ABCB11|-|NM_003742|14|c.1638+80C>T|.|intronic GT:DP:AD:DP4 0/1:32:8,24:4,4,12,12 2 169828325 150686068 A G 925 off_target VARTYPE=1;BGN=0.00125468;ARL=232;DER=55;DEA=71;QR=37;QA=36;PBP=478;PBM=455;TYPE=SNP;DBXREF=dbSNP:rs2241340,g1000:0.5962,esp5400:0.6014,ExAC:0.5810,GnomAD_AC_exome:139554,GnomAD_AN_exome:244416,GnomAD_AC_genome:17604,GnomAD_AN_genome:30804,GnomAD:0.5710;SGVEP=ABCB11|-|NM_003742|14|c.1638+32T>C|.|intronic GT:DP:AD:DP4 0/1:56:19,37:10,9,19,18 2 169828689 150686144 C T 165 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=267;DER=22;DEA=23;QR=36;QA=35;PBP=75;PBM=94;SP=0;TYPE=SNP;DBXREF=dbSNP:rs141899900,g1000:0.0028,GnomAD_AC_genome:292,GnomAD_AN_genome:30898,GnomAD:0.0095;SGVEP=ABCB11|-|NM_003742|14|c.1435-129G>A|.|intronic GT:DP:AD:DP4 0/1:13:6,7:2,4,3,4 2 169830155 150686250 G A 466 off_target VARTYPE=1;BGN=0.00104216;ARL=252;DER=51;DEA=31;QR=35;QA=37;PBP=235;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs2287623,g1000:0.5970,GnomAD_AC_genome:17605,GnomAD_AN_genome:30778,GnomAD:0.5720;SGVEP=ABCB11|-|NM_003742|13|c.1434+70C>T|.|intronic GT:DP:AD:DP4 0/1:47:27,20:14,13,10,10 2 169830328 133662 A G 1428 PASS VARTYPE=1;BGN=0.00104216;ARL=217;DER=68;DEA=81;QR=36;QA=37;PBP=711;PBM=729;TYPE=SNP;DBXREF=dbSNP:rs2287622,g1000:0.5887,esp5400:0.6029,ExAC:0.5790,PhyloP:1.1140,SIFT:0.7500,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0010,LRT:0.9700,MutationTaster:0.9240,GERP:4.6200,clinvar:rs2287622,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:139572,GnomAD_AN_exome:245460,GnomAD_AC_genome:17573,GnomAD_AN_genome:30796,GnomAD:0.5688;SGVEP=ABCB11|-|NM_003742|13|c.1331T>C|p.(Val444Ala)|missense GT:DP:AD:DP4 0/1:132:71,61:34,37,30,31 2 169842809 150687088 T C 1064 off_target VARTYPE=1;BGN=0.00104216;ARL=209;DER=40;DEA=45;QR=36;QA=37;PBP=513;PBM=561;TYPE=SNP;DBXREF=dbSNP:rs2287618,g1000:0.7742,esp5400:0.7428,ExAC:0.7050,clinvar:rs2287618,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:169954,GnomAD_AN_exome:244656,GnomAD_AC_genome:22580,GnomAD_AN_genome:30882,GnomAD:0.6988;SGVEP=ABCB11|-|NM_003742|10|c.909-15A>G|.|intronic GT:DP:AD:DP4 0/1:106:60,46:29,31,22,24 2 169997051 133677 G A 381 PASS VARTYPE=1;BGN=0.00125468;ARL=221;DER=83;DEA=92;QR=36;QA=36;PBP=181;PBM=206;TYPE=SNP;DBXREF=dbSNP:rs990626,g1000:0.5595,esp5400:0.5999,ExAC:0.6830,clinvar:rs990626,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:170149,GnomAD_AN_exome:245480,GnomAD_AC_genome:18677,GnomAD_AN_genome:30874,GnomAD:0.6833;SGVEP=LRP2|-|NM_004525|72|c.13113C>T|p.(Ile4371:)|synonymous GT:DP:AD:DP4 0/1:41:24,17:12,12,8,9 2 170002500 150695967 C T 116 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=247;DER=31;DEA=52;QR=35;QA=36;PBP=48;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs41265945,g1000:0.0407,GnomAD_AC_genome:2663,GnomAD_AN_genome:30918,GnomAD:0.0861;SGVEP=LRP2|-|NM_004525|70|c.12812-67G>A|.|intronic GT:DP:AD:DP4 0/1:12:7,5:3,4,2,3 2 170003432 133679 T G 2991 PASS VARTYPE=1;BGN=0.00104216;ARL=224;DEA=95;QA=37;PBP=1486;PBM=1515;TYPE=SNP;DBXREF=dbSNP:rs4667591,g1000:0.5559,esp5400:0.6018,ExAC:0.7110,PhyloP:0.9570,SIFT:1.0000,PolyPhen2:0.9920,PolyPhen2_HumDiv:0.9950,LRT:1.0000,MutationTaster:1.0000,GERP:4.5000,clinvar:rs4667591,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:178089,GnomAD_AN_exome:245252,GnomAD_AC_genome:18697,GnomAD_AN_genome:30884,GnomAD:0.7126;SGVEP=LRP2|-|NM_004525|69|c.12628A>C|p.(Ile4210Leu)|missense GT:DP:AD:DP4 1/1:101:0,101:0,0,50,51 2 170010985 133682 T C 248 low_coverage VARTYPE=1;BGN=0.00104216;ARL=232;DER=35;DEA=85;QR=37;QA=37;PBP=125;PBM=128;TYPE=SNP;DBXREF=dbSNP:rs2075252,g1000:0.7780,esp5400:0.7989,ExAC:0.7620,PhyloP:1.3410,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.5500,clinvar:rs2075252,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:187260,GnomAD_AN_exome:245960,GnomAD_AC_genome:24241,GnomAD_AN_genome:30896,GnomAD:0.7639;SGVEP=LRP2|-|NM_004525|66|c.12280A>G|p.(Lys4094Glu)|missense GT:DP:AD:DP4 0/1:19:9,10:5,4,5,5 2 170025083 133687 A G 832 PASS VARTYPE=1;BGN=0.00104216;ARL=221;DER=77;DEA=73;QR=37;QA=37;PBP=421;PBM=421;TYPE=SNP;DBXREF=dbSNP:rs2229268,g1000:0.1907,esp5400:0.1556,ExAC:0.2020,PhyloP:1.0450,SIFT:0.8060,MutationTaster:1.0000,GERP:3.4400,clinvar:rs2229268,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:50025,GnomAD_AN_exome:246080,GnomAD_AC_genome:5140,GnomAD_AN_genome:30934,GnomAD:0.1991;SGVEP=LRP2|-|NM_004525|61|c.11601T>C|p.(Cys3867:)|synonymous GT:DP:AD:DP4 0/1:84:48,36:24,24,18,18 2 170025198 150697327 GAAAAAAA GAAAAAA 165 off_target VARTYPE=1;BGN=0.0352792;ARL=223;DER=55;DEA=85;QR=36;QA=40;HL=7;PBP=87;PBM=85;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs143342962,g1000:0.0459,ExAC:0.0770,clinvar:rs143342962,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:18891,GnomAD_AN_exome:245706,GnomAD_AC_genome:2157,GnomAD_AN_genome:30792,GnomAD:0.0761;SGVEP=LRP2|-|NM_004525|61|c.11498-13del|.|intronic GT:DP:AD:DP4 0/1:59:31,26:15,16,13,13 2 170029800 150697697 T C 532 off_target VARTYPE=1;BGN=0.000865644;ARL=248;DER=38;DEA=26;QR=37;QA=38;PBP=276;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs17848190,g1000:0.2133,GnomAD_AC_genome:5570,GnomAD_AN_genome:30934,GnomAD:0.1801;SGVEP=LRP2|-|NM_004525|57|c.11015-66A>G|.|intronic GT:DP:AD:DP4 0/1:31:11,20:4,7,10,10 2 170038571 150698403 C T 307 off_target VARTYPE=1;BGN=0.00104216;ARL=265;DER=57;DEA=54;QR=37;QA=37;PBP=183;PBM=128;TYPE=SNP;DBXREF=dbSNP:rs17848180,g1000:0.1807,GnomAD_AC_genome:3872,GnomAD_AN_genome:30928,GnomAD:0.1252;SGVEP=LRP2|-|NM_004525|51|c.9998+106G>A|.|intronic GT:DP:AD:DP4 0/1:20:8,12:4,4,7,5 2 170050472 150699248 T C 198 off_target VARTYPE=1;BGN=0.00125468;ARL=256;DER=41;DEA=53;QR=37;QA=36;PBP=89;PBM=114;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2075248,g1000:0.5240,GnomAD_AC_genome:15329,GnomAD_AN_genome:30908,GnomAD:0.4960;SGVEP=LRP2|-|NM_004525|47|c.8699-70A>G|.|intronic GT:DP:AD:DP4 0/1:25:16,9:8,8,4,5 2 170053505 133701 C T 833 PASS VARTYPE=1;BGN=0.00104216;ARL=221;DER=87;DEA=97;QR=37;QA=37;PBP=410;PBM=433;TYPE=SNP;DBXREF=dbSNP:rs2228171,g1000:0.2680,esp5400:0.2399,ExAC:0.2670,PhyloP:-3.0620,SIFT:0.0380,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9110,MutationTaster:0.0000,GERP:-10.7000,clinvar:rs2228171,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:65600,GnomAD_AN_exome:245922,GnomAD_AC_genome:8357,GnomAD_AN_genome:30934,GnomAD:0.2671;SGVEP=LRP2|-|NM_004525|46|c.8614G>A|p.(Ala2872Thr)|missense GT:DP:AD:DP4 0/1:126:87,39:43,44,19,20 2 170053580 150699429 C T 362 off_target VARTYPE=1;BGN=0.00104216;ARL=242;DER=48;DEA=70;QR=38;QA=37;PBP=172;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs2302696,g1000:0.3429,esp5400:0.3241,ExAC:0.2920,GnomAD_AC_exome:69451,GnomAD_AN_exome:242318,GnomAD_AC_genome:10539,GnomAD_AN_genome:30884,GnomAD:0.2928;SGVEP=LRP2|-|NM_004525|46|c.8579-40G>A|.|intronic GT:DP:AD:DP4 0/1:59:42,17:21,21,8,9 2 170055255 150699515 T C 235 off_target VARTYPE=1;BGN=0.00104216;ARL=231;DER=66;DEA=27;QR=33;QA=37;PBP=118;PBM=122;TYPE=SNP;DBXREF=dbSNP:rs16823023,g1000:0.2664,esp5400:0.2425,ExAC:0.2680,GnomAD_AC_exome:65691,GnomAD_AN_exome:245232,GnomAD_AC_genome:8413,GnomAD_AN_genome:30924,GnomAD:0.2683;SGVEP=LRP2|-|NM_004525|45|c.8578+41A>G|.|intronic GT:DP:AD:DP4 0/1:24:14,10:8,6,5,5 2 170059190 150699809 T C 276 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=241;DER=28;DEA=51;QR=37;QA=38;PBP=140;PBM=140;TYPE=SNP;DBXREF=dbSNP:rs2239599,g1000:0.3466,GnomAD_AC_genome:10531,GnomAD_AN_genome:30886,GnomAD:0.3410;SGVEP=LRP2|-|NM_004525|43|c.8209+76A>G|.|intronic GT:DP:AD:DP4 0/1:14:4,10:2,2,5,5 2 170063783 150700332 T C 443 off_target VARTYPE=1;BGN=0.00104216;ARL=244;DER=66;DEA=69;QR=38;QA=37;PBP=224;PBM=224;TYPE=SNP;DBXREF=dbSNP:rs13417389,g1000:0.2788,esp5400:0.2349,ExAC:0.2210,GnomAD_AC_exome:52261,GnomAD_AN_exome:238814,GnomAD_AC_genome:7420,GnomAD_AN_genome:30922,GnomAD:0.2213;SGVEP=LRP2|-|NM_004525|39|c.6470-23A>G|.|intronic GT:DP:AD:DP4 0/1:34:16,18:8,8,9,9 2 170077165 150701224 C T 171 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=283;DER=75;DEA=54;QR=37;QA=37;PBP=74;PBM=101;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3815572,g1000:0.4006,GnomAD_AC_genome:10394,GnomAD_AN_genome:29714,GnomAD:0.3498;SGVEP=LRP2|-|NM_004525|34|c.5539-92G>A|.|intronic GT:DP:AD:DP4 0/1:15:8,7:4,4,3,4 2 170082013 150701501 A G 270 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=259;DER=41;DEA=75;QR=38;QA=36;PBP=124;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs2075246,g1000:0.5715,esp5400:0.5188,ExAC:0.4790,GnomAD_AC_exome:114623,GnomAD_AN_exome:244226,GnomAD_AC_genome:15644,GnomAD_AN_genome:30886,GnomAD:0.4735;SGVEP=LRP2|-|NM_004525|33|c.5395-50T>C|.|intronic GT:DP:AD:DP4 0/1:19:8,11:4,4,5,6 2 170089824 150701975 T C 276 off_target VARTYPE=1;BGN=0.00125468;ARL=261;DER=33;DEA=24;QR=37;QA=36;PBP=165;PBM=116;TYPE=SNP;DBXREF=dbSNP:rs2239596,g1000:0.4629,GnomAD_AC_genome:11000,GnomAD_AN_genome:30878,GnomAD:0.3562;SGVEP=LRP2|-|NM_004525|30|c.5098+97A>G|.|intronic GT:DP:AD:DP4 0/1:27:15,12:8,7,7,5 2 170089851 150701976 G A 407 off_target VARTYPE=1;BGN=0.00104216;ARL=258;DER=48;DEA=49;QR=35;QA=37;PBP=192;PBM=221;TYPE=SNP;DBXREF=dbSNP:rs2239595,g1000:0.2019,GnomAD_AC_genome:3878,GnomAD_AN_genome:30932,GnomAD:0.1254;SGVEP=LRP2|-|NM_004525|30|c.5098+70C>T|.|intronic GT:DP:AD:DP4 0/1:36:19,17:10,9,8,9 2 170092395 133726 A G 607 PASS VARTYPE=1;BGN=0.00104216;ARL=238;DER=78;DEA=66;QR=35;QA=37;PBP=338;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs2229267,g1000:0.4613,esp5400:0.3794,ExAC:0.3340,clinvar:rs2229267,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:81858,GnomAD_AN_exome:246190,GnomAD_AC_genome:11581,GnomAD_AN_genome:30920,GnomAD:0.3372;SGVEP=LRP2|-|NM_004525|29|c.4875T>C|p.(Cys1625:)|synonymous GT:DP:AD:DP4 0/1:40:16,24:7,9,13,11 2 170096018 150702476 G A 376 off_target VARTYPE=1;BGN=0.00104216;ARL=214;DER=30;DEA=35;QR=37;QA=37;PBP=190;PBM=192;TYPE=SNP;DBXREF=dbSNP:rs830973,g1000:0.4441,esp5400:0.3431,ExAC:0.3930,clinvar:rs830973,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:98345,GnomAD_AN_exome:245972,GnomAD_AC_genome:10938,GnomAD_AN_genome:30878,GnomAD:0.3947;SGVEP=LRP2|-|NM_004525|26|c.4294+19C>T|.|intronic GT:DP:AD:DP4 0/1:37:21,16:11,10,8,8 2 170099446 150702750 T G 517 off_target VARTYPE=1;BGN=0.00104216;ARL=227;DER=63;DEA=67;QR=37;QA=37;PBP=302;PBM=223;TYPE=SNP;DBXREF=dbSNP:rs831041,g1000:0.6186,esp5400:0.5373,ExAC:0.5380,clinvar:rs831041,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:132376,GnomAD_AN_exome:246170,GnomAD_AC_genome:16199,GnomAD_AN_genome:30880,GnomAD:0.5363;SGVEP=LRP2|-|NM_004525|24|c.3667+20A>C|.|intronic GT:DP:AD:DP4 0/1:62:39,23:19,20,13,10 2 170099473 133735 T C 927 PASS VARTYPE=1;BGN=0.00104216;ARL=212;DER=71;DEA=66;QR=37;QA=37;PBP=521;PBM=416;TYPE=SNP;DBXREF=dbSNP:rs831042,g1000:0.5819,esp5400:0.5041,ExAC:0.5230,clinvar:rs831042,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:129151,GnomAD_AN_exome:246220,GnomAD_AC_genome:15298,GnomAD_AN_genome:30874,GnomAD:0.5213;SGVEP=LRP2|-|NM_004525|24|c.3660A>G|p.(Ala1220:)|synonymous GT:DP:AD:DP4 0/1:92:52,40:26,26,22,18 2 170099895 150702804 A C 529 off_target VARTYPE=1;BGN=0.00104216;ARL=225;DER=70;DEA=41;QR=37;QA=37;PBP=296;PBM=242;TYPE=SNP;DBXREF=dbSNP:rs2075255,g1000:0.0212,esp5400:0.5550,ExAC:0.5500,clinvar:rs2075255,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:134827,GnomAD_AN_exome:245800,GnomAD_AC_genome:16530,GnomAD_AN_genome:30682,GnomAD:0.5474;SGVEP=LRP2|-|NM_004525|23|c.3550+18T>G|.|intronic GT:DP:AD:DP4 0/1:70:46,24:22,24,13,11 2 170099899 150702807 G A 514 off_target VARTYPE=1;BGN=0.00104216;ARL=220;DER=66;DEA=43;QR=37;QA=37;PBP=287;PBM=236;TYPE=SNP;DBXREF=dbSNP:rs2075254,g1000:0.6186,esp5400:0.5363,ExAC:0.5370,clinvar:rs2075254,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:131972,GnomAD_AN_exome:245834,GnomAD_AC_genome:15975,GnomAD_AN_genome:30684,GnomAD:0.5350;SGVEP=LRP2|-|NM_004525|23|c.3550+14C>T|.|intronic GT:DP:AD:DP4 0/1:79:55,24:27,28,13,11 2 170103336 133740 T C 564 PASS VARTYPE=1;BGN=0.00104216;ARL=233;DER=98;DEA=118;QR=36;QA=37;PBP=323;PBM=249;TYPE=SNP;DBXREF=dbSNP:rs831043,g1000:0.6186,esp5400:0.5376,ExAC:0.5380,clinvar:rs831043,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:132426,GnomAD_AN_exome:246200,GnomAD_AC_genome:16197,GnomAD_AN_genome:30888,GnomAD:0.5364;SGVEP=LRP2|-|NM_004525|21|c.3069A>G|p.(Thr1023:)|synonymous GT:DP:AD:DP4 0/1:66:41,25:21,20,14,11 2 170103351 133741 G T 2372 PASS VARTYPE=1;BGN=0.00104216;ARL=235;DEA=94;QA=37;PBP=1249;PBM=1130;TYPE=SNP;DBXREF=dbSNP:rs2075249,g1000:0.4565,esp5400:0.4008,ExAC:0.4920,clinvar:rs2075249,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:123443,GnomAD_AN_exome:246186,GnomAD_AC_genome:12656,GnomAD_AN_genome:30888,GnomAD:0.4912;SGVEP=LRP2|-|NM_004525|21|c.3054C>A|p.(Thr1018:)|synonymous GT:DP:AD:DP4 1/1:80:0,80:0,0,42,38 2 170115588 133749 T C 533 PASS VARTYPE=1;BGN=0.000865644;ARL=221;DER=111;DEA=84;QR=37;QA=38;PBP=270;PBM=271;TYPE=SNP;DBXREF=dbSNP:rs2241190,g1000:0.6224,esp5400:0.5442,ExAC:0.5460,clinvar:rs2241190,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:134287,GnomAD_AN_exome:245858,GnomAD_AC_genome:16326,GnomAD_AN_genome:30770,GnomAD:0.5445;SGVEP=LRP2|-|NM_004525|17|c.2460A>G|p.(Thr820:)|synonymous GT:DP:AD:DP4 0/1:79:55,24:28,27,12,12 2 170129528 133752 G A 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=221;DEA=89;QA=37;PBP=1782;PBM=1841;TYPE=SNP;DBXREF=dbSNP:rs830994,g1000:0.6096,esp5400:0.6174,ExAC:0.6240,clinvar:rs830994,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:153774,GnomAD_AN_exome:245542,GnomAD_AC_genome:19353,GnomAD_AN_genome:30852,GnomAD:0.6264;SGVEP=LRP2|-|NM_004525|15|c.2025C>T|p.(Val675:)|synonymous GT:DP:AD:DP4 1/1:122:0,122:0,0,60,62 2 170129636 150704518 A G 1011 off_target VARTYPE=1;BGN=0.00104216;ARL=257;DEA=55;QA=37;PBP=447;PBM=566;TYPE=SNP;DBXREF=dbSNP:rs830995,g1000:0.6743,GnomAD_AC_genome:21733,GnomAD_AN_genome:30892,GnomAD:0.7035;SGVEP=LRP2|-|NM_004525|15|c.1976-59T>C|.|intronic GT:DP:AD:DP4 1/1:34:0,34:0,0,15,19 2 170134191 150704790 G C 840 off_target VARTYPE=1;BGN=0.00125468;ARL=271;DEA=72;QA=36;PBP=464;PBM=377;TYPE=SNP;DBXREF=dbSNP:rs831003,g1000:0.7644,GnomAD_AC_genome:24113,GnomAD_AN_genome:30934,GnomAD:0.7795;SGVEP=LRP2|-|NM_004525|13|c.1772+64C>G|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,16,13 2 170139346 150705211 C T 1427 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DEA=50;QA=37;PBP=744;PBM=685;TYPE=SNP;DBXREF=dbSNP:rs831010,g1000:0.8323,esp5400:0.8282,ExAC:0.8300,GnomAD_AC_exome:204071,GnomAD_AN_exome:245570,GnomAD_AC_genome:25908,GnomAD_AN_genome:30940,GnomAD:0.8317;SGVEP=LRP2|-|NM_004525|10|c.1171+37G>A|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,25,23 2 170145426 150705585 G A 395 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=278;DEA=45;QA=35;PBP=226;PBM=169;TYPE=SNP;DBXREF=dbSNP:rs831017,g1000:0.4431,GnomAD_AC_genome:13230,GnomAD_AN_genome:30818,GnomAD:0.4293;SGVEP=LRP2|-|NM_004525|9|c.1042+110C>T|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,8,6 2 170150671 133768 G A 1205 PASS VARTYPE=1;BGN=0.000865644;ARL=212;DER=70;DEA=75;QR=37;QA=38;PBP=619;PBM=597;TYPE=SNP;DBXREF=dbSNP:rs2229266,g1000:0.3702,esp5400:0.2829,ExAC:0.3200,clinvar:rs2229266,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:80258,GnomAD_AN_exome:246088,GnomAD_AC_genome:8963,GnomAD_AN_genome:30866,GnomAD:0.3222;SGVEP=LRP2|-|NM_004525|6|c.639C>T|p.(Asp213:)|synonymous GT:DP:AD:DP4 0/1:123:72,51:37,35,26,25 2 170163768 150706704 T C 750 off_target VARTYPE=1;BGN=0.00104216;ARL=227;DER=47;DEA=60;QR=36;QA=37;PBP=378;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs2247506,g1000:0.2059,esp5400:0.2456,ExAC:0.1990,GnomAD_AC_exome:47953,GnomAD_AN_exome:245936,GnomAD_AC_genome:7305,GnomAD_AN_genome:30892,GnomAD:0.1996;SGVEP=LRP2|-|NM_004525|4|c.427+23A>G|.|intronic GT:DP:AD:DP4 0/1:71:39,32:20,19,16,16 2 170218816 150709637 T C 1619 off_target VARTYPE=1;BGN=0.00125468;ARL=214;DEA=57;QA=36;PBP=869;PBM=753;TYPE=SNP;DBXREF=dbSNP:rs1559013,g1000:0.9846,esp5400:0.9887,ExAC:0.9940,clinvar:rs1559013,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:143476,GnomAD_AN_exome:143810,GnomAD_AC_genome:30615,GnomAD_AN_genome:30918,GnomAD:0.9964;SGVEP=LRP2|-|NM_004525|1|c.79+15A>G|.|intronic GT:DP:AD:DP4 1/1:56:0,56:0,0,30,26 2 170218847 133774 C G 2225 PASS VARTYPE=1;BGN=0.00104216;ARL=214;DEA=74;QA=37;PBP=1160;PBM=1071;TYPE=SNP;DBXREF=dbSNP:rs1559014,g1000:0.9846,esp5400:0.9895,ExAC:0.9960,clinvar:rs1559014,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:160950,GnomAD_AN_exome:161314,GnomAD_AC_genome:30629,GnomAD_AN_genome:30932,GnomAD:0.9965;SGVEP=LRP2|-|NM_004525|1|c.63G>C|p.(Ala21:)|synonymous GT:DP:AD:DP4 1/1:75:0,75:0,0,39,36 2 170336024 150715870 G C 1870 off_target VARTYPE=1;BGN=0.00104216;ARL=226;DEA=73;QA=37;PBP=893;PBM=982;TYPE=SNP;DBXREF=dbSNP:rs1879466,g1000:0.9175,esp5400:0.9001,ExAC:0.9100,clinvar:rs1879466,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:222028,GnomAD_AN_exome:242566,GnomAD_AC_genome:27947,GnomAD_AN_genome:30944,GnomAD:0.9140;SGVEP=BBS5|+|NM_152384|1|c.-40G>C|.|5'UTR GT:DP:AD:DP4 1/1:63:0,63:0,0,30,33 2 170355944 150716943 A T 114 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=241;DER=48;DEA=103;QR=33;QA=36;PBP=72;PBM=46;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12692909,g1000:0.3828,esp5400:0.3728,GnomAD_AC_genome:12443,GnomAD_AN_genome:30870,GnomAD:0.4031;SGVEP=BBS5|+|NM_152384|9|c.682-52A>T|.|intronic GT:DP:AD:DP4 0/1:13:8,5:4,4,3,2 2 170762487 150740127 C T 367 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=246;DEA=66;QA=38;PBP=184;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs10171268,g1000:0.9750,GnomAD_AC_genome:30277,GnomAD_AN_genome:30976,GnomAD:0.9774;SGVEP=UBR3|+|NM_172070|10|c.1646-54C>T|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 170762566 150740131 A T 567 PASS VARTYPE=1;BGN=0.00104216;ARL=215;DER=52;DEA=65;QR=37;QA=37;PBP=287;PBM=288;TYPE=SNP;DBXREF=dbSNP:rs10194785,g1000:0.2772,esp5400:0.1892,ExAC:0.2290,GnomAD_AC_exome:33091,GnomAD_AN_exome:152064,GnomAD_AC_genome:6055,GnomAD_AN_genome:30930,GnomAD:0.2139;SGVEP=UBR3|+|NM_172070|10|c.1671A>T|p.(Leu557:)|synonymous GT:DP:AD:DP4 0/1:79:53,26:27,26,13,13 2 170782037 150741107 C T 489 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=252;DEA=42;QA=38;PBP=245;PBM=245;TYPE=SNP;DBXREF=dbSNP:rs1461958,g1000:0.9766,GnomAD_AC_genome:30306,GnomAD_AN_genome:30982,GnomAD:0.9782;SGVEP=UBR3|+|NM_172070|14|c.2023-92C>T|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 2 170850738 150744330 T C 581 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=269;DEA=64;QA=38;PBP=306;PBM=275;TYPE=SNP;DBXREF=dbSNP:rs1461959,g1000:0.9818,GnomAD_AC_genome:30418,GnomAD_AN_genome:30978,GnomAD:0.9819;SGVEP=UBR3|+|NM_172070|26|c.3785-95T>C|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,10,9 2 170885930 150746087 C A 264 PASS VARTYPE=1;BGN=0.000865644;ARL=205;DER=70;DEA=63;QR=37;QA=38;PBP=135;PBM=135;TYPE=SNP;DBXREF=dbSNP:rs77587723,g1000:0.0561,esp5400:0.0363,ExAC:0.0350,PhyloP:2.3150,SIFT:0.9930,PolyPhen2:0.9940,PolyPhen2_HumDiv:0.9960,LRT:1.0000,MutationTaster:0.7940,GERP:4.7300,GnomAD_AC_exome:8398,GnomAD_AN_exome:244008,GnomAD_AC_genome:1338,GnomAD_AN_genome:30888,GnomAD:0.0354;SGVEP=UBR3|+|NM_172070|31|c.4528C>A|p.(Leu1510Ile)|missense GT:DP:AD:DP4 0/1:44:32,12:16,16,6,6 2 170911950 150747286 T C 726 off_target VARTYPE=1;BGN=0.00104216;ARL=222;DER=113;DEA=50;QR=38;QA=37;PBP=366;PBM=366;TYPE=SNP;DBXREF=dbSNP:rs6741614,g1000:0.2408,esp5400:0.1607,ExAC:0.2000,GnomAD_AC_exome:46852,GnomAD_AN_exome:238218,GnomAD_AC_genome:5334,GnomAD_AN_genome:30948,GnomAD:0.1939;SGVEP=UBR3|+|NM_172070|33|c.4661-20T>C|.|intronic GT:DP:AD:DP4 0/1:42:14,28:7,7,14,14 2 170917544 150747572 T A 156 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=276;DER=113;DEA=90;QR=38;QA=37;PBP=79;PBM=79;SP=0;TYPE=SNP;DBXREF=dbSNP:rs72876447,g1000:0.1342,esp5400:0.1223,ExAC:0.1460,GnomAD_AC_exome:23647,GnomAD_AN_exome:149318,GnomAD_AC_genome:4489,GnomAD_AN_genome:30886,GnomAD:0.1561;SGVEP=UBR3|+|NM_172070|34|c.4786-45T>A|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 2 170917648 150747597 A G 337 PASS VARTYPE=1;BGN=0.000865644;ARL=226;DER=97;DEA=120;QR=37;QA=38;PBP=171;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs10203212,g1000:0.3321,esp5400:0.2753,ExAC:0.2800,PhyloP:-2.0180,MutationTaster:1.0000,GERP:-10.7000,GnomAD_AC_exome:62345,GnomAD_AN_exome:233160,GnomAD_AC_genome:8603,GnomAD_AN_genome:30924,GnomAD:0.2687;SGVEP=UBR3|+|NM_172070|34|c.4845A>G|p.(Leu1615:)|synonymous GT:DP:AD:DP4 0/1:34:20,14:10,10,7,7 2 170929880 150748250 G A 383 off_target VARTYPE=1;BGN=0.00104216;ARL=223;DER=45;DEA=19;QR=37;QA=37;PBP=195;PBM=195;TYPE=SNP;DBXREF=dbSNP:rs10202446,g1000:0.3403,GnomAD_AC_genome:8698,GnomAD_AN_genome:30874,GnomAD:0.2817;SGVEP=UBR3|+|NM_172070|36|c.5020-58G>A|.|intronic GT:DP:AD:DP4 0/1:34:18,16:9,9,8,8 2 171678625 150788079 T C 443 PASS VARTYPE=1;BGN=0.000865644;ARL=219;DER=99;DEA=95;QR=35;QA=38;PBP=251;PBM=198;TYPE=SNP;DBXREF=dbSNP:rs769404,g1000:0.3572,esp5400:0.3378,ExAC:0.3920,clinvar:rs769404,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:94604,GnomAD_AN_exome:240164,GnomAD_AC_genome:11162,GnomAD_AN_genome:30872,GnomAD:0.3902;SGVEP=GAD1|+|NM_000817|3|c.111T>C|p.(His37:)|synonymous GT:DP:AD:DP4 0/1:39:21,18:11,10,10,8 2 171693455 150788949 A C 302 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=237;DER=50;DEA=37;QR=31;QA=37;PBP=141;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs769390,g1000:0.2083,GnomAD_AC_genome:6451,GnomAD_AN_genome:30946,GnomAD:0.2085;SGVEP=GAD1|+|NM_000817|6|c.638+62A>C|.|intronic GT:DP:AD:DP4 1/1:14:3,11:1,2,5,6 2 171702480 150789444 C T 330 off_target VARTYPE=1;BGN=0.00104216;ARL=241;DER=76;DEA=65;QR=37;QA=37;PBP=168;PBM=168;TYPE=SNP;DBXREF=dbSNP:rs701492,g1000:0.2929,esp5400:0.2709,ExAC:0.2960,GnomAD_AC_exome:73257,GnomAD_AN_exome:245850,GnomAD_AC_genome:8649,GnomAD_AN_genome:30892,GnomAD:0.2960;SGVEP=GAD1|+|NM_000817|10|c.948-39C>T|.|intronic GT:DP:AD:DP4 0/1:32:18,14:9,9,7,7 2 171709430 150789845 A G 194 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=274;DER=28;DEA=54;QR=37;QA=36;PBP=98;PBM=101;SP=0;TYPE=SNP;DBXREF=dbSNP:rs769391,g1000:0.3031,GnomAD_AC_genome:8837,GnomAD_AN_genome:30868,GnomAD:0.2863;SGVEP=GAD1|+|NM_000817|13|c.1263+128A>G|.|intronic GT:DP:AD:DP4 0/1:15:7,8:4,3,4,4 2 171716157 150790220 T C 309 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=255;DER=6;DEA=64;QR=38;QA=37;PBP=170;PBM=141;TYPE=SNP;DBXREF=dbSNP:rs186144501,g1000:0.0012,GnomAD_AC_genome:86,GnomAD_AN_genome:30978,GnomAD:0.0028;SGVEP=GAD1|+|NM_000817|17|c.1612-62T>C|.|intronic GT:DP:AD:DP4 1/1:13:2,11:1,1,6,5 2 172291616 133792 C T 303 PASS VARTYPE=1;BGN=0.000865644;ARL=219;DER=78;DEA=104;QR=35;QA=38;PBP=180;PBM=130;TYPE=SNP;DBXREF=dbSNP:rs6751956,g1000:0.3067,esp5400:0.2713,ExAC:0.2720,clinvar:rs6751956,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:67716,GnomAD_AN_exome:246074,GnomAD_AC_genome:8524,GnomAD_AN_genome:30906,GnomAD:0.2753;SGVEP=DCAF17|+|NM_001164821|2|c.150C>T|p.(Val50:)|synonymous GT:DP:AD:DP4 0/1:54:40,14:20,20,8,6 2 172336541 133802 C T 333 off_target VARTYPE=1;BGN=0.00104216;ARL=233;DER=67;DEA=73;QR=36;QA=37;PBP=171;PBM=168;TYPE=SNP;DBXREF=dbSNP:rs3731981,g1000:0.2061,esp5400:0.1880,ExAC:0.2240,clinvar:rs3731981,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:56627,GnomAD_AN_exome:245782,GnomAD_AC_genome:6007,GnomAD_AN_genome:30930,GnomAD:0.2264;SGVEP=DCAF17|+|NM_001164821|11|c.1066-7C>T|.|intronic GT:DP:AD:DP4 0/1:31:17,14:8,9,7,7 2 172398311 150824871 T C 764 off_target VARTYPE=1;BGN=0.000865644;ARL=230;DEA=45;QA=38;PBP=459;PBM=306;TYPE=SNP;DBXREF=dbSNP:rs7586144,g1000:0.8043,esp5400:0.7602,ExAC:0.7530,GnomAD_AC_exome:183507,GnomAD_AN_exome:244990,GnomAD_AC_genome:23845,GnomAD_AN_genome:30694,GnomAD:0.7521;SGVEP=CYBRD1|+|NM_001127383|2|c.194-11545T>C|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,15,10 2 172411273 150825526 G A 1513 PASS VARTYPE=1;BGN=0.00104216;ARL=211;DER=123;DEA=74;QR=35;QA=37;PBP=730;PBM=789;TYPE=SNP;DBXREF=dbSNP:rs10455,g1000:0.6831,esp5400:0.7352,ExAC:0.6510,PhyloP:-1.6280,SIFT:0.0740,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.8420,MutationTaster:0.8350,GERP:-3.3300,GnomAD_AC_exome:157543,GnomAD_AN_exome:245464,GnomAD_AC_genome:22021,GnomAD_AN_genome:30892,GnomAD:0.6498;SGVEP=CYBRD1|+|NM_001256909|4|c.623G>A|p.(Ser208Asn)|missense GT:DP:AD:DP4 1/1:54:2,52:1,1,25,27 2 172642057 150837837 C T 249 off_target VARTYPE=1;BGN=0.00104216;ARL=230;DER=38;DEA=37;QR=36;QA=37;PBP=140;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs12692973,g1000:0.2648,GnomAD_AC_genome:8820,GnomAD_AN_genome:30872,GnomAD:0.2857;SGVEP=SLC25A12|-|NM_003705|18|c.1836-72G>A|.|intronic GT:DP:AD:DP4 0/1:31:20,11:10,10,6,5 2 172644229 150837952 T C 1591 off_target VARTYPE=1;BGN=0.00125468;ARL=247;DEA=119;QA=36;PBP=782;PBM=811;TYPE=SNP;DBXREF=dbSNP:rs2292813,g1000:0.7915,GnomAD_AC_genome:25543,GnomAD_AN_genome:30914,GnomAD:0.8263;SGVEP=SLC25A12|-|NM_003705|17|c.1745-58A>G|.|intronic GT:DP:AD:DP4 1/1:55:0,55:0,0,27,28 2 172650332 685914993 C T 209 off_target VARTYPE=1;BGN=0.00125468;ARL=267;DER=87;DEA=35;QR=32;QA=36;PBP=95;PBM=118;SP=0;TYPE=SNP;DBXREF=dbSNP:rs900867729;SGVEP=SLC25A12|-|NM_003705|14|c.1306-55G>A|.|intronic GT:DP:AD:DP4 0/1:20:11,9:5,6,4,5 2 172683481 150839865 A C 166 off_target VARTYPE=1;BGN=0.00181855;ARL=237;DER=45;DEA=34;QR=35;QA=34;PBP=61;PBM=110;SP=2;TYPE=SNP;DBXREF=dbSNP:rs17615262,g1000:0.2694,GnomAD_AC_genome:6372,GnomAD_AN_genome:29712,GnomAD:0.2145;SGVEP=SLC25A12|-|NM_003705|9|c.846-89T>G|.|intronic GT:DP:AD:DP4 0/1:21:13,8:7,6,3,5 2 172693780 150840395 G A 661 PASS VARTYPE=1;BGN=0.00104216;ARL=203;DER=67;DEA=80;QR=38;QA=37;PBP=362;PBM=307;TYPE=SNP;DBXREF=dbSNP:rs3765166,g1000:0.2674,esp5400:0.2070,ExAC:0.2670,clinvar:rs3765166,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:64807,GnomAD_AN_exome:245770,GnomAD_AC_genome:6963,GnomAD_AN_genome:30916,GnomAD:0.2594;SGVEP=SLC25A12|-|NM_003705|6|c.466-3C>T|.|intronic GT:DP:AD:DP4 0/1:61:33,28:16,17,15,13 2 172712480 150841275 T C 1475 off_target VARTYPE=1;BGN=0.00125468;ARL=224;DEA=53;QA=36;PBP=753;PBM=724;TYPE=SNP;DBXREF=dbSNP:rs2056202,g1000:0.7580,esp5400:0.7785,ExAC:0.8090,GnomAD_AC_exome:198024,GnomAD_AN_exome:245812,GnomAD_AC_genome:24072,GnomAD_AN_genome:30946,GnomAD:0.8025;SGVEP=SLC25A12|-|NM_003705|4|c.210-21A>G|.|intronic GT:DP:AD:DP4 1/1:51:0,51:0,0,26,25 2 172725301 150841872 A G 2166 PASS VARTYPE=1;BGN=0.00125468;ARL=215;DEA=61;QA=36;PBP=1071;PBM=1100;TYPE=SNP;DBXREF=dbSNP:rs1878583,g1000:0.7909,esp5400:0.8159,ExAC:0.8570,clinvar:rs1878583,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:210586,GnomAD_AN_exome:246240,GnomAD_AC_genome:25449,GnomAD_AN_genome:30904,GnomAD:0.8517;SGVEP=SLC25A12|-|NM_003705|3|c.99T>C|p.(Tyr33:)|synonymous GT:DP:AD:DP4 1/1:75:0,75:0,0,37,38 2 173339808 150873225 G A 353 PASS VARTYPE=1;BGN=0.00104216;ARL=219;DER=83;DEA=68;QR=37;QA=37;PBP=182;PBM=178;TYPE=SNP;DBXREF=dbSNP:rs11895564,g1000:0.2516,esp5400:0.3159,ExAC:0.2810,PhyloP:1.2250,SIFT:0.8550,PolyPhen2:0.8340,PolyPhen2_HumDiv:0.8580,LRT:1.0000,MutationTaster:1.0000,GERP:4.4600,clinvar:rs11895564,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:68869,GnomAD_AN_exome:246140,GnomAD_AC_genome:8800,GnomAD_AN_genome:30908,GnomAD:0.2803;SGVEP=ITGA6|+|NM_000210|7|c.1138G>A|p.(Ala380Thr)|missense GT:DP:AD:DP4 0/1:48:32,16:15,17,8,8 2 173344474 150873536 A G 508 off_target VARTYPE=1;BGN=0.00104216;ARL=229;DER=74;DEA=61;QR=36;QA=37;PBP=245;PBM=269;TYPE=SNP;DBXREF=dbSNP:rs1920979,g1000:0.4071,esp5400:0.4114,ExAC:0.3710,clinvar:rs1920979,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:90517,GnomAD_AN_exome:246108,GnomAD_AC_genome:11828,GnomAD_AN_genome:30812,GnomAD:0.3696;SGVEP=ITGA6|+|NM_000210|10|c.1487+7A>G|.|intronic GT:DP:AD:DP4 0/1:42:21,21:10,11,10,11 2 173427053 150878647 T G 382 off_target VARTYPE=1;BGN=0.00125468;ARL=211;DER=55;DEA=49;QR=38;QA=36;PBP=194;PBM=194;TYPE=SNP;DBXREF=dbSNP:rs10176813,g1000:0.0699,esp5400:0.1025,ExAC:0.0940,GnomAD_AC_exome:22452,GnomAD_AN_exome:235298,GnomAD_AC_genome:2843,GnomAD_AN_genome:30958,GnomAD:0.0950;SGVEP=PDK1|+|NM_001278549|3|c.410+34T>G|.|intronic GT:DP:AD:DP4 0/1:30:14,16:7,7,8,8 2 173460640 150880603 T C 940 PASS VARTYPE=1;BGN=0.000865644;ARL=198;DER=90;DEA=98;QR=37;QA=38;PBP=475;PBM=475;TYPE=SNP;DBXREF=dbSNP:rs12693005,g1000:0.0697,esp5400:0.1023,ExAC:0.0940,GnomAD_AC_exome:23156,GnomAD_AN_exome:245684,GnomAD_AC_genome:2844,GnomAD_AN_genome:30950,GnomAD:0.0940;SGVEP=PDK1|+|NM_001278549|12|c.1314T>C|p.(Asp438:)|synonymous GT:DP:AD:DP4 0/1:100:60,40:30,30,20,20 2 175431990 150979892 AAGAG A 629 off_target VARTYPE=1;BGN=0.000865644;ARL=258;DER=9;DEA=62;QR=33;QA=147;PBP=267;PBM=370;TYPE=INDEL;DBXREF=dbSNP:rs143689509,g1000:0.1953,GnomAD_AC_genome:7916,GnomAD_AN_genome:30848,GnomAD:0.2566;SGVEP=WIPF1|-|NM_001077269|7|c.1343-83_1343-80del|.|intronic GT:DP:AD:DP4 0/1:32:9,23:6,3,10,13 2 175436940 150980255 G A 10000 PASS VARTYPE=1;BGN=0.00125468;ARL=220;DER=87;DEA=99;QR=9;QA=36;PBP=2368;PBM=2425;TYPE=SNP;DBXREF=dbSNP:rs4972450,g1000:0.9079,esp5400:0.9198,ExAC:0.9410,PhyloP:0.7650,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9710,MutationTaster:1.0000,GERP:5.0200,clinvar:rs4972450,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:231343,GnomAD_AN_exome:244878,GnomAD_AC_genome:28713,GnomAD_AN_genome:30902,GnomAD:0.9430;SGVEP=WIPF1|-|NM_001077269|5|c.593C>T|p.(Pro198Leu)|missense GT:DP:AD:DP4 1/1:166:0,166:0,0,82,84 2 175613059 150988768 A C 113 low_variant_fraction;off_target VARTYPE=1;BGN=0.00104216;ARL=246;DER=41;DEA=21;QR=37;QA=37;PBP=60;PBM=58;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3816448,g1000:0.3666,GnomAD_AC_genome:10832,GnomAD_AN_genome:30924,GnomAD:0.3503;SGVEP=CHRNA1|-|NM_000079|9|c.1243-76T>G|.|intronic GT:DP:AD:DP4 0/1:40:34,6:16,18,3,3 2 175613600 150988854 T C 734 off_target VARTYPE=1;BGN=0.000865644;ARL=243;DEA=59;QA=38;PBP=367;PBM=367;TYPE=SNP;DBXREF=dbSNP:rs2646159,g1000:0.8832,GnomAD_AC_genome:27033,GnomAD_AN_genome:30960,GnomAD:0.8732;SGVEP=CHRNA1|-|NM_000079|8|c.1003-53A>G|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 2 175622178 150989487 TGGG TGG 329 low_coverage;off_target VARTYPE=1;BGN=0.0149204;ARL=272;DEA=43;QA=37;HL=3;PBP=164;PBM=164;TYPE=INDEL;DBXREF=dbSNP:rs398080830,g1000:0.7310,GnomAD_AC_genome:23590,GnomAD_AN_genome:30854,GnomAD:0.7646;SGVEP=CHRNA1|-|NM_000079|4|c.344+115del|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 175622788 150989584 G A 3021 off_target VARTYPE=1;BGN=0.00104216;ARL=225;DEA=97;QA=37;PBP=1545;PBM=1486;TYPE=SNP;DBXREF=dbSNP:rs2646164,g1000:0.9982,esp5400:0.9975,ExAC:0.9990,clinvar:rs2646164,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:243354,GnomAD_AN_exome:243484,GnomAD_AC_genome:30897,GnomAD_AN_genome:30976,GnomAD:0.9992;SGVEP=CHRNA1|-|NM_000079|4|c.235-385C>T|.|intronic GT:DP:AD:DP4 1/1:102:0,102:0,0,52,50 2 175622907 150989595 T C 782 off_target VARTYPE=1;BGN=0.00125468;ARL=259;DEA=33;QA=36;PBP=377;PBM=406;TYPE=SNP;DBXREF=dbSNP:rs2600687,g1000:0.9022,GnomAD_AC_genome:27359,GnomAD_AN_genome:30950,GnomAD:0.8840;SGVEP=CHRNA1|-|NM_000079|4|c.235-504A>G|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,13,14 2 175629021 150989961 C A 196 off_target VARTYPE=1;BGN=0.00125468;ARL=221;DER=47;DEA=70;QR=37;QA=36;PBP=88;PBM=114;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7560774,g1000:0.2808,esp5400:0.4029,GnomAD_AC_genome:10949,GnomAD_AN_genome:30904,GnomAD:0.3543;SGVEP=CHRNA1|-|NM_000079|1|c.43+59G>T|.|intronic GT:DP:AD:DP4 0/1:26:17,9:9,8,4,5 2 175666656 150991962 G A 655 off_target VARTYPE=1;BGN=0.00104216;ARL=275;DEA=54;QA=37;PBP=328;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs2646153,g1000:0.5671,GnomAD_AC_genome:17487,GnomAD_AN_genome:30920,GnomAD:0.5656;SGVEP=CHN1|-|NM_001025201|12|c.1025-116C>T|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 2 175677022 150992528 C T 895 off_target VARTYPE=1;BGN=0.00104216;ARL=225;DER=29;DEA=56;QR=36;QA=37;PBP=474;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs12613075,g1000:0.3369,esp5400:0.3598,ExAC:0.4280,clinvar:rs12613075,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:102626,GnomAD_AN_exome:240840,GnomAD_AC_genome:11405,GnomAD_AN_genome:30886,GnomAD:0.4197;SGVEP=CHN1|-|NM_001025201|9|c.808+15G>A|.|intronic GT:DP:AD:DP4 0/1:48:14,34:8,6,18,16 2 175711942 150994189 C T 290 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=300;DEA=97;QA=36;PBP=116;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs14228,g1000:0.3768,GnomAD_AC_genome:12820,GnomAD_AN_genome:30860,GnomAD:0.4154;SGVEP=CHN1|-|NM_001025201|8|c.550-22696G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,4,6 2 176957822 133854 G A 1597 PASS VARTYPE=1;BGN=0.00125468;ARL=215;DER=101;DEA=92;QR=35;QA=36;PBP=811;PBM=799;TYPE=SNP;DBXREF=dbSNP:rs2518053,g1000:0.4479,esp5400:0.3557,ExAC:0.1700,clinvar:rs2518053,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:24257,GnomAD_AN_exome:70728,GnomAD_AC_genome:12684,GnomAD_AN_genome:29674,GnomAD:0.3679;SGVEP=HOXD13|+|NM_000523|1|c.204G>A|p.(Ala68:)|synonymous GT:DP:AD:DP4 0/1:167:95,72:45,50,36,36 2 176959113 151054677 G GCA 114 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=240;DER=37;DEA=37;QR=30;QA=71;PBP=71;PBM=47;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs775653772,GnomAD_AC_genome:5442,GnomAD_AN_genome:28002,GnomAD:0.1943;SGVEP=HOXD13|+|NM_000523|2|c.782-64_782-63dup|.|intronic GT:DP:AD:DP4 0/1:18:11,5:6,5,3,2 2 176983598 151056579 CAAAACCAAAACA C 393 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=264;DER=54;DEA=65;QR=38;QA=399;PBP=199;PBM=199;NVF=0.74;TYPE=INDEL;DBXREF=dbSNP:rs559802024,g1000:0.2418,GnomAD_AC_genome:8239,GnomAD_AN_genome:30464,GnomAD:0.2705;SGVEP=HOXD10|+|NM_002148|2|c.746-78_746-67del|.|intronic GT:DP:AD:DP4 1/1:18:4,14:2,2,7,7 2 177016728 151058751 T C 1330 PASS VARTYPE=1;BGN=0.00104216;ARL=217;DER=77;DEA=110;QR=35;QA=37;PBP=654;PBM=687;TYPE=SNP;DBXREF=dbSNP:rs34727427,g1000:0.2364,esp5400:0.3094,ExAC:0.2590,PhyloP:0.7840,SIFT:0.6750,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0980,MutationTaster:1.0000,GERP:2.9100,GnomAD_AC_exome:61255,GnomAD_AN_exome:239188,GnomAD_AC_genome:9268,GnomAD_AN_genome:30806,GnomAD:0.2612;SGVEP=HOXD4|+|NM_014621|1|c.367T>C|p.(Ser123Pro)|missense GT:DP:AD:DP4 0/1:96:42,54:18,24,26,28 2 178362572 151126306 G A 550 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=241;DEA=76;QA=38;PBP=275;PBM=275;TYPE=SNP;DBXREF=dbSNP:rs12468046,g1000:0.9026,GnomAD_AC_genome:27022,GnomAD_AN_genome:30842,GnomAD:0.8761;SGVEP=AGPS|+|NM_003659|13|c.1362+79G>A|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 178378452 151127092 T A 149 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=243;DER=50;DEA=28;QR=38;QA=38;PBP=76;PBM=76;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2364854,g1000:0.5423,GnomAD_AC_genome:18130,GnomAD_AN_genome:30892,GnomAD:0.5869;SGVEP=AGPS|+|NM_003659|17|c.1608-95T>A|.|intronic GT:DP:AD:DP4 0/1:14:8,6:4,4,3,3 2 178494173 151133424 G GGGA 1557 PASS VARTYPE=1;BGN=0.000865644;ARL=197;DER=79;DEA=61;QR=37;QA=109;PBP=839;PBM=732;TYPE=INDEL;DBXREF=dbSNP:rs397723704,g1000:0.5877,ExAC:0.6930,GnomAD_AC_exome:174980,GnomAD_AN_exome:246232,GnomAD_AC_genome:19331,GnomAD_AN_genome:30770,GnomAD:0.7015;SGVEP=PDE11A|-|NM_001077196|17|c.1429_1431dup|p.(Ser477dup)|inframe_3 GT:DP:AD:DP4 0/1:158:92,66:46,46,35,31 2 178528703 151135321 C T 552 off_target VARTYPE=1;BGN=0.000865644;ARL=204;DER=50;DEA=37;QR=37;QA=38;PBP=278;PBM=281;TYPE=SNP;DBXREF=dbSNP:rs13025391,g1000:0.8321,esp5400:0.7963,ExAC:0.8580,GnomAD_AC_exome:212574,GnomAD_AN_exome:245292,GnomAD_AC_genome:25367,GnomAD_AN_genome:30920,GnomAD:0.8614;SGVEP=PDE11A|-|NM_001077196|16|c.1231-26G>A|.|intronic GT:DP:AD:DP4 0/1:43:21,22:11,10,11,11 2 178534324 151135655 A G 479 off_target VARTYPE=1;BGN=0.00104216;ARL=216;DER=65;DEA=76;QR=32;QA=37;PBP=245;PBM=240;TYPE=SNP;DBXREF=dbSNP:rs6433687,g1000:0.8295,esp5400:0.7927,ExAC:0.8570,GnomAD_AC_exome:211034,GnomAD_AN_exome:243802,GnomAD_AC_genome:25307,GnomAD_AN_genome:30940,GnomAD:0.8602;SGVEP=PDE11A|-|NM_001077196|15|c.1156-29T>C|.|intronic GT:DP:AD:DP4 0/1:25:7,18:3,4,9,9 2 178540293 151136018 A G 638 off_target VARTYPE=1;BGN=0.00125468;ARL=221;DER=31;DEA=73;QR=38;QA=36;PBP=293;PBM=349;TYPE=SNP;DBXREF=dbSNP:rs3770016,g1000:0.7049,esp5400:0.6936,ExAC:0.7970,GnomAD_AC_exome:192770,GnomAD_AN_exome:236908,GnomAD_AC_genome:22681,GnomAD_AN_genome:30892,GnomAD:0.8045;SGVEP=PDE11A|-|NM_001077196|14|c.1092-47T>C|.|intronic GT:DP:AD:DP4 1/1:30:6,24:3,3,11,13 2 178561947 151137086 G C 358 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=256;DEA=35;QA=37;PBP=179;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs2886424,g1000:0.7784,GnomAD_AC_genome:24569,GnomAD_AN_genome:30900,GnomAD:0.7951;SGVEP=PDE11A|-|NM_001077196|12|c.1013+113C>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 178565815 151137324 T C 863 off_target VARTYPE=1;BGN=0.00104216;ARL=236;DEA=61;QA=37;PBP=447;PBM=417;TYPE=SNP;DBXREF=dbSNP:rs10201180,g1000:0.7618,esp5400:0.7632,ExAC:0.7700,GnomAD_AC_exome:189239,GnomAD_AN_exome:243870,GnomAD_AC_genome:23635,GnomAD_AN_genome:30916,GnomAD:0.7747;SGVEP=PDE11A|-|NM_001077196|11|c.912+34A>G|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,15,14 2 178681534 151143083 C T 457 off_target VARTYPE=1;BGN=0.00125468;ARL=214;DER=50;DEA=55;QR=36;QA=36;PBP=232;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs6433698,g1000:0.4181,esp5400:0.4275,ExAC:0.3330,GnomAD_AC_exome:79379,GnomAD_AN_exome:245600,GnomAD_AC_genome:12197,GnomAD_AN_genome:30878,GnomAD:0.3312;SGVEP=PDE11A|-|NM_001077196|6|c.405+22G>A|.|intronic GT:DP:AD:DP4 0/1:44:24,20:12,12,10,10 2 178681716 151143111 G C 141 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=254;DER=37;DEA=96;QR=37;QA=38;PBP=73;PBM=73;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1438059,g1000:0.4207,GnomAD_AC_genome:12318,GnomAD_AN_genome:30900,GnomAD:0.3986;SGVEP=PDE11A|-|NM_001077196|6|c.313-68C>G|.|intronic GT:DP:AD:DP4 0/1:18:12,6:6,6,3,3 2 178682558 151143175 A ATATAAAC 109 off_target VARTYPE=1;BGN=0.000865644;ARL=220;DER=59;DEA=86;QR=36;QA=261;PBP=70;PBM=44;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs3841879,g1000:0.4175,GnomAD_AC_exome:74921,GnomAD_AN_exome:238292,GnomAD_AC_genome:12088,GnomAD_AN_genome:30766,GnomAD:0.3234;SGVEP=PDE11A|-|NM_001077196|5|c.312+26_312+27insGTTTATA|.|intronic GT:DP:AD:DP4 0/1:22:17,5:8,9,3,2 2 178682603 151143190 T C 112 PASS VARTYPE=1;BGN=0.00151053;ARL=213;DER=79;DEA=123;QR=38;QA=35;PBP=59;PBM=57;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6720891,g1000:0.4181,esp5400:0.4247,ExAC:0.3330,PhyloP:-1.7400,MutationTaster:1.0000,GERP:-11.6000,GnomAD_AC_exome:78896,GnomAD_AN_exome:244860,GnomAD_AC_genome:12150,GnomAD_AN_genome:30858,GnomAD:0.3302;SGVEP=PDE11A|-|NM_001077196|5|c.294A>G|p.(Ala98:)|synonymous GT:DP:AD:DP4 0/1:30:24,6:11,13,3,3 2 178682655 151143201 A G 118 PASS VARTYPE=1;BGN=0.00125468;ARL=220;DER=70;DEA=108;QR=37;QA=36;PBP=63;PBM=60;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3821010,g1000:0.4181,esp5400:0.4271,ExAC:0.3330,GnomAD_AC_exome:79070,GnomAD_AN_exome:244964,GnomAD_AC_genome:12162,GnomAD_AN_genome:30858,GnomAD:0.3308;SGVEP=PDE11A|-|NM_001077196|5|c.245-3T>C|.|intronic GT:DP:AD:DP4 0/1:28:22,6:10,12,3,3 2 178684921 151143380 G A 191 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=228;DER=47;DEA=74;QR=38;QA=36;PBP=98;PBM=98;SP=0;TYPE=SNP;DBXREF=dbSNP:rs13386827,g1000:0.2853,esp5400:0.3045,ExAC:0.2410,GnomAD_AC_exome:56045,GnomAD_AN_exome:240856,GnomAD_AC_genome:8569,GnomAD_AN_genome:30768,GnomAD:0.2379;SGVEP=PDE11A|-|NM_001077196|4|c.244+26C>T|.|intronic GT:DP:AD:DP4 0/1:16:8,8:4,4,4,4 2 178936373 151155316 T G 2697 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DEA=111;QA=37;PBP=1338;PBM=1367;TYPE=SNP;DBXREF=dbSNP:rs1435573,g1000:0.8874,esp5400:0.8414,ExAC:0.8740,GnomAD_AC_exome:216248,GnomAD_AN_exome:246238,GnomAD_AC_genome:25933,GnomAD_AN_genome:30888,GnomAD:0.8739;SGVEP=PDE11A|-|NM_016953|1|c.792A>C|p.(Thr264:)|synonymous GT:DP:AD:DP4 1/1:91:0,91:0,0,45,46 2 178936614 151155359 C T 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=224;DEA=105;QA=37;PBP=1693;PBM=1663;TYPE=SNP;DBXREF=dbSNP:rs6433711,g1000:0.9902,esp5400:0.9933,ExAC:0.9980,PhyloP:0.8550,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.2800,GnomAD_AC_exome:245867,GnomAD_AN_exome:246266,GnomAD_AC_genome:30745,GnomAD_AN_genome:30946,GnomAD:0.9978;SGVEP=PDE11A|-|NM_016953|1|c.551G>A|p.(Arg184Gln)|missense GT:DP:AD:DP4 1/1:113:0,113:0,0,57,56 2 179395958 134055 T C 1068 PASS VARTYPE=1;BGN=0.00125468;ARL=211;DER=95;DEA=96;QR=36;QA=36;PBP=542;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs3813250,g1000:0.5082,esp5400:0.3178,ExAC:0.3520,clinvar:rs3813250,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:86548,GnomAD_AN_exome:245958,GnomAD_AC_genome:10897,GnomAD_AN_genome:30868,GnomAD:0.3520;SGVEP=TTN|-|NM_001256850|308|c.100461A>G|p.(Ala33487:)|synonymous GT:DP:AD:DP4 0/1:137:87,50:42,45,25,25 2 179403750 134334 C T 1268 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DER=96;DEA=108;QR=37;QA=37;PBP=641;PBM=639;TYPE=SNP;DBXREF=dbSNP:rs4894028,g1000:0.0769,esp5400:0.0239,ExAC:0.0680,PhyloP:2.8820,SIFT:0.9980,PolyPhen2:0.9990,PolyPhen2_HumDiv:1.0000,MutationTaster:1.0000,GERP:6.0600,clinvar:rs4894028,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:18266,GnomAD_AN_exome:245422,GnomAD_AC_genome:976,GnomAD_AN_genome:30922,GnomAD:0.0696;SGVEP=TTN|-|NM_001256850|303|c.93989G>A|p.(Arg31330His)|missense GT:DP:AD:DP4 0/1:139:83,56:41,42,28,28 2 179406003 134407 C A 514 off_target VARTYPE=1;BGN=0.000865644;ARL=217;DER=75;DEA=50;QR=37;QA=38;PBP=246;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs3731750,g1000:0.5046,esp5400:0.3007,ExAC:0.2230,clinvar:rs3731750,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:42726,GnomAD_AN_exome:121236,GnomAD_AC_genome:10805,GnomAD_AN_genome:30882,GnomAD:0.3519;SGVEP=TTN|-|NM_001256850|300|c.92872+6G>T|.|intronic GT:DP:AD:DP4 0/1:74:49,23:26,23,11,12 2 179408713 134502 A G 1405 PASS VARTYPE=1;BGN=0.00104216;ARL=224;DER=109;DEA=107;QR=37;QA=37;PBP=722;PBM=695;TYPE=SNP;DBXREF=dbSNP:rs62621236,g1000:0.1158,esp5400:0.0709,ExAC:0.0810,PhyloP:2.1800,SIFT:0.8480,PolyPhen2:0.0340,PolyPhen2_HumDiv:0.0280,MutationTaster:1.0000,GERP:5.7200,clinvar:rs62621236,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:20992,GnomAD_AN_exome:245836,GnomAD_AC_genome:2141,GnomAD_AN_genome:30924,GnomAD:0.0836;SGVEP=TTN|-|NM_001256850|296|c.91235T>C|p.(Ile30412Thr)|missense GT:DP:AD:DP4 0/1:141:80,61:40,40,31,30 2 179414318 134698 C T 1007 PASS VARTYPE=1;BGN=0.00104216;ARL=220;DER=71;DEA=86;QR=37;QA=37;PBP=505;PBM=511;TYPE=SNP;DBXREF=dbSNP:rs747122,g1000:0.1502,esp5400:0.1015,ExAC:0.0900,PhyloP:2.8730,SIFT:0.9960,PolyPhen2:0.6910,PolyPhen2_HumDiv:0.9660,MutationTaster:1.0000,GERP:5.7400,clinvar:rs747122,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:22675,GnomAD_AN_exome:243698,GnomAD_AC_genome:3077,GnomAD_AN_genome:30948,GnomAD:0.0938;SGVEP=TTN|-|NM_001256850|288|c.87208G>A|p.(Val29070Met)|missense GT:DP:AD:DP4 0/1:84:42,42:22,20,21,21 2 179416556 134752 A C 687 PASS VARTYPE=1;BGN=0.00104216;ARL=224;DER=95;DEA=101;QR=37;QA=37;PBP=335;PBM=360;TYPE=SNP;DBXREF=dbSNP:rs11897366,g1000:0.1524,esp5400:0.1030,ExAC:0.0910,clinvar:rs11897366,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:23087,GnomAD_AN_exome:245366,GnomAD_AC_genome:3113,GnomAD_AN_genome:30910,GnomAD:0.0948;SGVEP=TTN|-|NM_001256850|285|c.86148T>G|p.(Thr28716:)|synonymous GT:DP:AD:DP4 0/1:87:56,31:28,28,15,16 2 179421609 134877 C T 667 PASS VARTYPE=1;BGN=0.00125468;ARL=217;DER=76;DEA=64;QR=37;QA=36;PBP=360;PBM=315;TYPE=SNP;DBXREF=dbSNP:rs9808036,g1000:0.0843,esp5400:0.0314,ExAC:0.0700,clinvar:rs9808036,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:18588,GnomAD_AN_exome:245298,GnomAD_AC_genome:1153,GnomAD_AN_genome:30950,GnomAD:0.0715;SGVEP=TTN|-|NM_001256850|280|c.83349G>A|p.(Glu27783:)|synonymous GT:DP:AD:DP4 0/1:72:42,30:22,20,16,14 2 179421694 134879 A G 884 PASS VARTYPE=1;BGN=0.00104216;ARL=225;DER=99;DEA=94;QR=36;QA=37;PBP=445;PBM=449;TYPE=SNP;DBXREF=dbSNP:rs9808377,g1000:0.5072,esp5400:0.3178,ExAC:0.3500,PhyloP:-1.2020,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:-2.9000,clinvar:rs9808377,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:85964,GnomAD_AN_exome:245364,GnomAD_AC_genome:10861,GnomAD_AN_genome:30848,GnomAD:0.3505;SGVEP=TTN|-|NM_001256850|280|c.83264T>C|p.(Ile27755Thr)|missense GT:DP:AD:DP4 0/1:112:72,40:37,35,20,20 2 179427186 135064 A G 939 PASS VARTYPE=1;BGN=0.00125468;ARL=230;DER=102;DEA=113;QR=37;QA=36;PBP=488;PBM=460;TYPE=SNP;DBXREF=dbSNP:rs2366751,g1000:0.5088,esp5400:0.3167,ExAC:0.3510,clinvar:rs2366751,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:85766,GnomAD_AN_exome:244506,GnomAD_AC_genome:10885,GnomAD_AN_genome:30848,GnomAD:0.3510;SGVEP=TTN|-|NM_001256850|276|c.78750T>C|p.(Gly26250:)|synonymous GT:DP:AD:DP4 0/1:86:45,41:22,23,21,20 2 179427536 135079 T C 936 PASS VARTYPE=1;BGN=0.00104216;ARL=225;DER=90;DEA=107;QR=37;QA=37;PBP=485;PBM=461;TYPE=SNP;DBXREF=dbSNP:rs3829746,g1000:0.5084,esp5400:0.3195,ExAC:0.3500,PhyloP:0.8830,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:5.1500,clinvar:rs3829746,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:85658,GnomAD_AN_exome:243402,GnomAD_AC_genome:10886,GnomAD_AN_genome:30864,GnomAD:0.3520;SGVEP=TTN|-|NM_001256850|276|c.78400A>G|p.(Ile26134Val)|missense GT:DP:AD:DP4 0/1:100:59,41:30,29,21,20 2 179432185 135301 A G 1348 PASS VARTYPE=1;BGN=0.00104216;ARL=219;DER=101;DEA=96;QR=35;QA=37;PBP=650;PBM=709;TYPE=SNP;DBXREF=dbSNP:rs12463674,g1000:0.1300,esp5400:0.2243,ExAC:0.2360,PhyloP:2.1400,SIFT:0.9520,PolyPhen2:0.1920,PolyPhen2_HumDiv:0.8010,MutationTaster:1.0000,GERP:5.6500,clinvar:rs12463674,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:57594,GnomAD_AN_exome:244902,GnomAD_AC_genome:7219,GnomAD_AN_genome:30876,GnomAD:0.2350;SGVEP=TTN|-|NM_001256850|276|c.73751T>C|p.(Ile24584Thr)|missense GT:DP:AD:DP4 0/1:91:37,54:19,18,26,28 2 179435337 135418 T G 1022 PASS VARTYPE=1;BGN=0.00104216;ARL=230;DER=107;DEA=110;QR=37;QA=37;PBP=592;PBM=442;TYPE=SNP;DBXREF=dbSNP:rs6732060,g1000:0.1432,esp5400:0.0906,ExAC:0.0880,clinvar:rs6732060,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:22467,GnomAD_AN_exome:245312,GnomAD_AC_genome:2769,GnomAD_AN_genome:30898,GnomAD:0.0914;SGVEP=TTN|-|NM_001256850|276|c.70599A>C|p.(Ala23533:)|synonymous GT:DP:AD:DP4 0/1:155:107,48:53,54,27,21 2 179438866 135561 C T 1063 PASS VARTYPE=1;BGN=0.00104216;ARL=221;DER=87;DEA=107;QR=37;QA=37;PBP=529;PBM=545;TYPE=SNP;DBXREF=dbSNP:rs10164753,g1000:0.0978,esp5400:0.0476,ExAC:0.0740,PhyloP:2.6350,SIFT:1.0000,PolyPhen2:0.9990,PolyPhen2_HumDiv:1.0000,MutationTaster:1.0000,GERP:5.5800,clinvar:rs10164753,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:19551,GnomAD_AN_exome:245072,GnomAD_AC_genome:1575,GnomAD_AN_genome:30898,GnomAD:0.0766;SGVEP=TTN|-|NM_001256850|276|c.67070G>A|p.(Arg22357His)|missense GT:DP:AD:DP4 0/1:95:50,45:23,27,22,23 2 179440029 135606 G A 694 PASS VARTYPE=1;BGN=0.00104216;ARL=237;DER=93;DEA=112;QR=36;QA=37;PBP=364;PBM=339;TYPE=SNP;DBXREF=dbSNP:rs12464787,g1000:0.1466,esp5400:0.2365,ExAC:0.2390,clinvar:rs12464787,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:58115,GnomAD_AN_exome:244962,GnomAD_AC_genome:7787,GnomAD_AN_genome:30866,GnomAD:0.2389;SGVEP=TTN|-|NM_001256850|276|c.65907C>T|p.(Ser21969:)|synonymous GT:DP:AD:DP4 0/1:115:82,33:41,41,17,16 2 179443540 135729 A G 665 PASS VARTYPE=1;BGN=0.00104216;ARL=240;DER=90;DEA=72;QR=37;QA=37;PBP=323;PBM=349;TYPE=SNP;DBXREF=dbSNP:rs10497517,g1000:0.1360,esp5400:0.0837,ExAC:0.0860,clinvar:rs10497517,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:21936,GnomAD_AN_exome:243692,GnomAD_AC_genome:2603,GnomAD_AN_genome:30894,GnomAD:0.0894;SGVEP=TTN|-|NM_001256850|270|c.63294T>C|p.(His21098:)|synonymous GT:DP:AD:DP4 0/1:71:42,29:21,21,14,15 2 179444768 135778 C G 2579 PASS VARTYPE=1;BGN=0.00104216;ARL=226;DEA=98;QA=37;PBP=1308;PBM=1278;TYPE=SNP;DBXREF=dbSNP:rs4145333,g1000:0.9946,esp5400:0.9960,ExAC:0.9990,PhyloP:0.0590,SIFT:0.6900,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0850,GERP:1.8200,clinvar:rs4145333,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:245174,GnomAD_AN_exome:245484,GnomAD_AC_genome:30798,GnomAD_AN_genome:30894,GnomAD:0.9985;SGVEP=TTN|-|NM_001256850|268|c.62323G>C|p.(Ala20775Pro)|missense GT:DP:AD:DP4 1/1:87:0,87:0,0,44,43 2 179444939 135789 C T 124 low_variant_fraction VARTYPE=1;BGN=0.000865644;ARL=204;DER=83;DEA=70;QR=37;QA=38;PBP=64;PBM=64;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2303838,g1000:0.3512,esp5400:0.2226,ExAC:0.2420,PhyloP:0.2610,SIFT:0.9270,PolyPhen2:0.0110,PolyPhen2_HumDiv:0.0030,MutationTaster:1.0000,GERP:2.6100,clinvar:rs2303838,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:58454,GnomAD_AN_exome:244462,GnomAD_AC_genome:7532,GnomAD_AN_genome:30848,GnomAD:0.2397;SGVEP=TTN|-|NM_001256850|268|c.62152G>A|p.(Val20718Ile)|missense GT:DP:AD:DP4 0/1:32:26,6:13,13,3,3 2 179447848 135863 T C 1525 PASS VARTYPE=1;BGN=0.00104216;ARL=214;DER=82;DEA=89;QR=37;QA=37;PBP=782;PBM=755;TYPE=SNP;DBXREF=dbSNP:rs4894029,g1000:0.5138,esp5400:0.3212,ExAC:0.3520,clinvar:rs4894029,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:85888,GnomAD_AN_exome:242236,GnomAD_AC_genome:10923,GnomAD_AN_genome:30808,GnomAD:0.3546;SGVEP=TTN|-|NM_001256850|263|c.60759A>G|p.(Thr20253:)|synonymous GT:DP:AD:DP4 0/1:119:56,63:28,28,32,31 2 179448911 151188930 G A 325 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=247;DER=14;DEA=60;QR=37;QA=37;PBP=160;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs16866400,g1000:0.3574,GnomAD_AC_genome:7611,GnomAD_AN_genome:30816,GnomAD:0.2470;SGVEP=TTN|-|NM_001256850|261|c.60352+92C>T|.|intronic GT:DP:AD:DP4 0/1:16:4,12:3,1,6,6 2 179449131 135893 G A 1231 PASS VARTYPE=1;BGN=0.00104216;ARL=222;DER=101;DEA=96;QR=36;QA=37;PBP=637;PBM=606;TYPE=SNP;DBXREF=dbSNP:rs13021201,g1000:0.0108,esp5400:0.0306,ExAC:0.0260,PhyloP:2.8310,SIFT:0.9690,PolyPhen2:0.2660,PolyPhen2_HumDiv:0.6690,MutationTaster:1.0000,GERP:5.9700,clinvar:rs13021201,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:6058,GnomAD_AN_exome:245118,GnomAD_AC_genome:677,GnomAD_AN_genome:30902,GnomAD:0.0244;SGVEP=TTN|-|NM_001256850|261|c.60224C>T|p.(Ser20075Leu)|missense GT:DP:AD:DP4 0/1:119:66,53:32,34,27,26 2 179451420 135934 G A 1269 PASS VARTYPE=1;BGN=0.00104216;ARL=214;DER=94;DEA=103;QR=37;QA=37;PBP=629;PBM=652;TYPE=SNP;DBXREF=dbSNP:rs2042996,g1000:0.5076,esp5400:0.3118,ExAC:0.3510,PhyloP:1.1200,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:6.0700,clinvar:rs2042996,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:86125,GnomAD_AN_exome:245524,GnomAD_AC_genome:10709,GnomAD_AN_genome:30834,GnomAD:0.3504;SGVEP=TTN|-|NM_001256850|258|c.59285C>T|p.(Thr19762Ile)|missense GT:DP:AD:DP4 0/1:152:95,57:47,48,28,29 2 179454394 136036 A G 569 PASS VARTYPE=1;BGN=0.00104216;ARL=230;DER=107;DEA=74;QR=37;QA=37;PBP=287;PBM=290;TYPE=SNP;DBXREF=dbSNP:rs1560221,g1000:0.5124,esp5400:0.3205,ExAC:0.3540,clinvar:rs1560221,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:86826,GnomAD_AN_exome:244862,GnomAD_AC_genome:10869,GnomAD_AN_genome:30832,GnomAD:0.3544;SGVEP=TTN|-|NM_001256850|254|c.57135T>C|p.(Tyr19045:)|synonymous GT:DP:AD:DP4 0/1:78:52,26:27,25,13,13 2 179455207 136061 T C 850 PASS VARTYPE=1;BGN=0.00125468;ARL=215;DER=81;DEA=86;QR=37;QA=36;PBP=388;PBM=471;TYPE=SNP;DBXREF=dbSNP:rs2163009,g1000:0.5124,esp5400:0.3189,ExAC:0.3540,clinvar:rs2163009,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:86816,GnomAD_AN_exome:245066,GnomAD_AC_genome:10868,GnomAD_AN_genome:30826,GnomAD:0.3541;SGVEP=TTN|-|NM_001256850|254|c.56322A>G|p.(Thr18774:)|synonymous GT:DP:AD:DP4 0/1:77:40,37:21,19,17,20 2 179457446 151190215 A G 637 off_target VARTYPE=1;BGN=0.00104216;ARL=244;DER=97;DEA=125;QR=36;QA=37;PBP=283;PBM=362;TYPE=SNP;DBXREF=dbSNP:rs72646841,g1000:0.1000,GnomAD_AC_genome:1948,GnomAD_AN_genome:30908,GnomAD:0.0630;SGVEP=TTN|-|NM_001256850|250|c.54421+56T>C|.|intronic GT:DP:AD:DP4 0/1:85:56,29:29,27,13,16 2 179462494 136254 A G 687 PASS VARTYPE=1;BGN=0.00125468;ARL=210;DER=91;DEA=92;QR=37;QA=36;PBP=372;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs35833641,g1000:0.1270,esp5400:0.2173,ExAC:0.2340,clinvar:rs35833641,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:57278,GnomAD_AN_exome:244786,GnomAD_AC_genome:7190,GnomAD_AN_genome:30872,GnomAD:0.2339;SGVEP=TTN|-|NM_001256850|244|c.52392T>C|p.(His17464:)|synonymous GT:DP:AD:DP4 0/1:88:56,32:28,28,17,15 2 179463823 151191047 T A 616 off_target VARTYPE=1;BGN=0.00104216;ARL=244;DER=77;DEA=112;QR=36;QA=37;PBP=299;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs182163713,g1000:0.0066,esp5400:0.0056,ExAC:0.0068,GnomAD_AC_exome:1132,GnomAD_AN_exome:157702,GnomAD_AC_genome:116,GnomAD_AN_genome:30352,GnomAD:0.0066;SGVEP=TTN|-|NM_001256850|241|c.51725-34A>T|.|intronic GT:DP:AD:DP4 0/1:46:21,25:10,11,12,13 2 179464527 136310 T C 364 PASS VARTYPE=1;BGN=0.000865644;ARL=213;DER=96;DEA=52;QR=37;QA=38;PBP=174;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs1001238,g1000:0.5128,esp5400:0.3217,ExAC:0.3530,PhyloP:1.3860,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:5.6000,clinvar:rs1001238,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:85410,GnomAD_AN_exome:240690,GnomAD_AC_genome:10875,GnomAD_AN_genome:30826,GnomAD:0.3546;SGVEP=TTN|-|NM_001256850|239|c.51178A>G|p.(Asn17060Asp)|missense GT:DP:AD:DP4 0/1:35:20,15:9,11,7,8 2 179469386 151191704 A G 284 off_target VARTYPE=1;BGN=0.00125468;ARL=242;DER=35;DEA=46;QR=38;QA=36;PBP=144;PBM=144;TYPE=SNP;DBXREF=dbSNP:rs10497518,g1000:0.1192,esp5400:0.0624,ExAC:0.0700,GnomAD_AC_exome:13440,GnomAD_AN_exome:187410,GnomAD_AC_genome:2439,GnomAD_AN_genome:30860,GnomAD:0.0727;SGVEP=TTN|-|NM_001256850|231|c.49458+49T>C|.|intronic GT:DP:AD:DP4 0/1:24:12,12:6,6,6,6 2 179470047 151191830 C A 398 off_target VARTYPE=1;BGN=0.00104216;ARL=231;DER=122;DEA=67;QR=36;QA=37;PBP=204;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs2303833,g1000:0.0833,esp5400:0.0428,ExAC:0.0350,GnomAD_AC_exome:6895,GnomAD_AN_exome:180138,GnomAD_AC_genome:1620,GnomAD_AN_genome:30840,GnomAD:0.0404;SGVEP=TTN|-|NM_001256850|230|c.48959-25G>T|.|intronic GT:DP:AD:DP4 0/1:29:13,16:6,7,8,8 2 179474668 136544 G A 553 PASS VARTYPE=1;BGN=0.00104216;ARL=236;DER=76;DEA=80;QR=37;QA=37;PBP=266;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs16866412,g1000:0.0727,esp5400:0.0299,ExAC:0.0350,PhyloP:2.6730,SIFT:0.9850,PolyPhen2:0.7510,PolyPhen2_HumDiv:0.9890,MutationTaster:1.0000,GERP:5.7000,clinvar:rs16866412,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:8326,GnomAD_AN_exome:244850,GnomAD_AC_genome:1223,GnomAD_AN_genome:30856,GnomAD:0.0346;SGVEP=TTN|-|NM_001256850|222|c.46559C>T|p.(Ala15520Val)|missense GT:DP:AD:DP4 0/1:47:24,23:12,12,11,12 2 179477717 136629 A G 785 PASS VARTYPE=1;BGN=0.00104216;ARL=218;DER=91;DEA=73;QR=35;QA=37;PBP=389;PBM=404;TYPE=SNP;DBXREF=dbSNP:rs2115558,g1000:0.0737,esp5400:0.0304,ExAC:0.0350,clinvar:rs2115558,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:8352,GnomAD_AN_exome:245044,GnomAD_AC_genome:1227,GnomAD_AN_genome:30848,GnomAD:0.0347;SGVEP=TTN|-|NM_001256850|215|c.44808T>C|p.(His14936:)|synonymous GT:DP:AD:DP4 0/1:69:36,33:16,20,16,17 2 179479245 136669 C T 819 PASS VARTYPE=1;BGN=0.00125468;ARL=230;DER=97;DEA=96;QR=37;QA=36;PBP=399;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs72677244,g1000:0.0725,esp5400:0.0290,ExAC:0.0340,clinvar:rs72677244,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:8190,GnomAD_AN_exome:244454,GnomAD_AC_genome:1173,GnomAD_AN_genome:30862,GnomAD:0.0340;SGVEP=TTN|-|NM_001256850|211|c.44073G>A|p.(Glu14691:)|synonymous GT:DP:AD:DP4 0/1:68:33,35:17,16,17,18 2 179482309 151193665 CAATT C 214 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=244;DER=30;DEA=112;QR=38;QA=136;PBP=140;PBM=79;SP=2;TYPE=INDEL;DBXREF=dbSNP:rs56737043,g1000:0.0819,GnomAD_AC_genome:1561,GnomAD_AN_genome:30832,GnomAD:0.0506;SGVEP=TTN|-|NM_001256850|204|c.42650-74_42650-71del|.|intronic GT:DP:AD:DP4 0/1:13:5,8:2,3,5,3 2 179514208 151196433 G A 154 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=259;DER=71;DEA=103;QR=36;QA=38;PBP=79;PBM=79;SP=0;TYPE=SNP;DBXREF=dbSNP:rs116254094,g1000:0.0327,GnomAD_AC_genome:802,GnomAD_AN_genome:30912,GnomAD:0.0259;SGVEP=TTN|-|NM_001256850|166|c.35374+336C>T|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 2 179514433 151196448 T C 330 off_target VARTYPE=1;BGN=0.00125468;ARL=264;DER=119;DEA=109;QR=36;QA=36;PBP=142;PBM=194;TYPE=SNP;DBXREF=dbSNP:rs2562845,g1000:0.3249,GnomAD_AC_genome:7479,GnomAD_AN_genome:30860,GnomAD:0.2424;SGVEP=TTN|-|NM_001256850|166|c.35374+111A>G|.|intronic GT:DP:AD:DP4 0/1:28:14,14:7,7,6,8 2 179514941 137059 TTTTCCTCTTCAGGAGCAA T 107 PASS VARTYPE=1;BGN=0.000865644;ARL=220;DER=98;DEA=86;QR=37;QA=669;PBP=56;PBM=56;SP=1;NVF=0.41;TYPE=INDEL;DBXREF=dbSNP:rs139512154,g1000:0.0331,clinvar:rs139512154,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:2289,GnomAD_AN_exome:220950,GnomAD_AC_genome:811,GnomAD_AN_genome:30904,GnomAD:0.0123;SGVEP=TTN|-|NM_001256850|165|c.35228_35245del|p.(Ile11743_Glu11748del)|inframe_18 GT:DP:AD:DP4 0/1:59:53,6:27,26,3,3 2 179519389 151197235 A T 101 low_variant_fraction;off_target VARTYPE=1;BGN=0.00125468;ARL=248;DER=106;DEA=36;QR=37;QA=36;PBP=53;PBM=53;SP=0;TYPE=SNP;DBXREF=dbSNP:rs141949217;SGVEP=TTN|-|NM_001256850|157|c.34523-2121T>A|.|intronic GT:DP:AD:DP4 0/1:52:46,6:23,23,3,3 2 179522337 151197275 G A 455 off_target VARTYPE=1;BGN=0.00104216;ARL=237;DER=90;DEA=96;QR=37;QA=37;PBP=231;PBM=231;TYPE=SNP;DBXREF=dbSNP:rs79253568,g1000:0.1366,GnomAD_AC_exome:3270,GnomAD_AN_exome:121886,GnomAD_AC_genome:2399,GnomAD_AN_genome:20980,GnomAD:0.0397;SGVEP=TTN|-|NM_001256850|156|c.34522+1395C>T|.|intronic GT:DP:AD:DP4 0/1:52:32,20:16,16,10,10 2 179523214 705232770 C T 512 low_variant_fraction VARTYPE=1;BGN=0.000865644;ARL=225;DER=99;DEA=83;QR=37;QA=38;PBP=260;PBM=261;TYPE=SNP;SGVEP=TTN|-|NM_001267550|184|c.37608G>A|p.(Pro12536:)|synonymous GT:DP:AD:DP4 0/1:205:177,28:89,88,14,14 2 179523590 151197349 C A 496 off_target VARTYPE=1;BGN=0.00104216;ARL=245;DER=96;DEA=74;QR=35;QA=37;PBP=228;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs2366755;SGVEP=TTN|-|NM_001256850|156|c.34522+142G>T|.|intronic GT:DP:AD:DP4 0/1:92:68,24:34,34,11,13 2 179523611 151197351 T C 292 low_variant_fraction;off_target VARTYPE=1;BGN=0.00104216;ARL=254;DER=105;DEA=124;QR=36;QA=37;PBP=137;PBM=162;TYPE=SNP;DBXREF=dbSNP:rs62178969;SGVEP=TTN|-|NM_001256850|156|c.34522+121A>G|.|intronic GT:DP:AD:DP4 0/1:77:62,15:32,30,7,8 2 179523649 151197352 A T 302 off_target VARTYPE=1;BGN=0.00104216;ARL=262;DER=115;DEA=116;QR=36;QA=37;PBP=164;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs72650059,g1000:0.0068;SGVEP=TTN|-|NM_001256850|156|c.34522+83T>A|.|intronic GT:DP:AD:DP4 0/1:67:52,15:28,24,8,7 2 179527475 137150 C T 262 low_variant_fraction VARTYPE=1;BGN=0.000865644;ARL=210;DER=100;DEA=84;QR=37;QA=38;PBP=155;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs535294541,g1000:0.0329,esp5400:0.0142,clinvar:rs535294541,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:891,GnomAD_AN_exome:52710,GnomAD:0.0169;SGVEP=TTN|-|NM_001267550|175|c.36855G>A|p.(Pro12285:)|synonymous GT:DP:AD:DP4 0/1:189:173,16:85,88,9,7 2 179527910 151197482 A T 114 low_variant_fraction;off_target VARTYPE=1;BGN=0.00104216;ARL=281;DER=107;DEA=80;QR=36;QA=37;PBP=60;PBM=59;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2435089;SGVEP=TTN|-|NM_001256850|154|c.34265-128T>A|.|intronic GT:DP:AD:DP4 0/1:39:33,6:16,17,3,3 2 179528378 137157 C T 466 PASS VARTYPE=1;BGN=0.00104216;ARL=240;DER=88;DEA=119;QR=35;QA=37;PBP=249;PBM=225;TYPE=SNP;DBXREF=dbSNP:rs2163008,g1000:0.2592,esp5400:0.2102,ExAC:0.1460,PhyloP:0.3400,SIFT:0.4180,MutationTaster:1.0000,GERP:3.7700,clinvar:rs2163008,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:35718,GnomAD_AN_exome:244022,GnomAD_AC_genome:5762,GnomAD_AN_genome:30614,GnomAD:0.1510;SGVEP=TTN|-|NM_001267550|171|c.36508G>A|p.(Glu12170Lys)|missense GT:DP:AD:DP4 0/1:60:39,21:20,19,11,10 2 179541899 151198680 C G 952 off_target VARTYPE=1;BGN=0.00104216;ARL=205;DEA=53;QA=37;PBP=477;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs2742351,g1000:0.7734,ExAC:0.5920,GnomAD_AC_exome:4495,GnomAD_AN_exome:6242,GnomAD_AC_genome:23132,GnomAD_AN_genome:30242,GnomAD:0.7572;SGVEP=TTN|-|NM_001256850|144|c.33340+449G>C|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,16,16 2 179545859 137259 C T 507 PASS VARTYPE=1;BGN=0.00104216;ARL=206;DER=79;DEA=73;QR=37;QA=37;PBP=246;PBM=269;TYPE=SNP;DBXREF=dbSNP:rs36051007,g1000:0.1260,esp5400:0.2243,ExAC:0.2330,PhyloP:-0.6600,SIFT:0.5820,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0190,GERP:-2.7600,clinvar:rs36051007,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:54984,GnomAD_AN_exome:236632,GnomAD_AC_genome:7182,GnomAD_AN_genome:30866,GnomAD:0.2324;SGVEP=TTN|-|NM_001256850|136|c.32336G>A|p.(Arg10779His)|missense GT:DP:AD:DP4 0/1:103:78,25:39,39,12,13 2 179547860 151199324 A G 179 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=245;DER=43;DEA=37;QR=38;QA=38;PBP=104;PBM=79;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2303828,g1000:0.2849,GnomAD_AC_genome:6515,GnomAD_AN_genome:30860,GnomAD:0.2111;SGVEP=TTN|-|NM_001256850|132|c.31936+78T>C|.|intronic GT:DP:AD:DP4 0/1:14:7,7:4,3,4,3 2 179550069 137317 T C 423 off_target VARTYPE=1;BGN=0.000865644;ARL=231;DER=60;DEA=122;QR=37;QA=38;PBP=201;PBM=229;TYPE=SNP;DBXREF=dbSNP:rs16866434,g1000:0.0329,esp5400:0.0228,ExAC:0.0085,clinvar:rs16866434,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:2237,GnomAD_AN_exome:147216,GnomAD_AC_genome:803,GnomAD_AN_genome:30952,GnomAD:0.0171;SGVEP=TTN|-|NM_001256850|127|c.31442-12A>G|.|intronic GT:DP:AD:DP4 0/1:35:18,17:9,9,8,9 2 179550439 151199611 A G 144 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=281;DER=66;DEA=37;QR=37;QA=36;PBP=74;PBM=74;SP=0;TYPE=SNP;DBXREF=dbSNP:rs148757560,g1000:0.0066,GnomAD_AC_genome:115,GnomAD_AN_genome:30976,GnomAD:0.0037;SGVEP=TTN|-|NM_001256850|126|c.31361-114T>C|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 2 179553566 151199794 A G 381 off_target VARTYPE=1;BGN=0.00125468;ARL=245;DER=58;DEA=53;QR=38;QA=36;PBP=179;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs72650026,g1000:0.0066,GnomAD_AC_genome:118,GnomAD_AN_genome:30962,GnomAD:0.0038;SGVEP=TTN|-|NM_001256850|124|c.31145-61T>C|.|intronic GT:DP:AD:DP4 0/1:41:24,17:13,11,8,9 2 179553917 151199862 G A 592 off_target VARTYPE=1;BGN=0.00104216;ARL=231;DER=112;DEA=66;QR=33;QA=37;PBP=279;PBM=320;TYPE=SNP;DBXREF=dbSNP:rs2627038,g1000:0.2616,esp5400:0.1419,GnomAD_AC_genome:5754,GnomAD_AN_genome:30738,GnomAD:0.1872;SGVEP=TTN|-|NM_001256850|123|c.31061-54C>T|.|intronic GT:DP:AD:DP4 0/1:44:20,24:8,12,11,13 2 179554305 137342 C T 893 PASS VARTYPE=1;BGN=0.00104216;ARL=193;DEA=73;QA=37;PBP=417;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs2244492,g1000:0.4133,esp5400:0.4313,ExAC:0.3780,PhyloP:0.9710,SIFT:0.2080,MutationTaster:1.0000,GERP:5.3400,clinvar:rs2244492,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:88816,GnomAD_AN_exome:233136,GnomAD_AC_genome:13778,GnomAD_AN_genome:30894,GnomAD:0.3886;SGVEP=TTN|-|NM_001256850|121|c.30913G>A|p.(Gly10305Arg)|missense GT:DP:AD:DP4 1/1:30:0,30:0,0,14,16 2 179558366 137365 T C 181 PASS VARTYPE=1;BGN=0.00125468;ARL=190;DER=53;DEA=69;QR=38;QA=36;PBP=118;PBM=68;SP=2;TYPE=SNP;DBXREF=dbSNP:rs2042995,g1000:0.4778,esp5400:0.3287,ExAC:0.3380,PhyloP:1.4980,SIFT:0.0000,MutationTaster:1.0000,GERP:5.8500,clinvar:rs2042995,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:81454,GnomAD_AN_exome:242260,GnomAD_AC_genome:10688,GnomAD_AN_genome:30902,GnomAD:0.3373;SGVEP=TTN|-|NM_001256850|117|c.30613A>G|p.(Ile10205Val)|missense GT:DP:AD:DP4 0/1:20:12,8:6,6,5,3 2 179583317 137693 G A 699 PASS VARTYPE=1;BGN=0.00125468;ARL=243;DER=115;DEA=96;QR=37;QA=36;PBP=340;PBM=368;TYPE=SNP;DBXREF=dbSNP:rs72648978,g1000:0.0735,esp5400:0.0978,ExAC:0.0890,clinvar:rs72648978,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:21536,GnomAD_AN_exome:244566,GnomAD_AC_genome:2879,GnomAD_AN_genome:30934,GnomAD:0.0886;SGVEP=TTN|-|NM_001256850|83|c.23565C>T|p.(Thr7855:)|synonymous GT:DP:AD:DP4 0/1:70:39,31:20,19,15,16 2 179585266 137762 C T 1427 PASS VARTYPE=1;BGN=0.00104216;ARL=230;DEA=89;QA=37;PBP=744;PBM=685;TYPE=SNP;DBXREF=dbSNP:rs2562831,g1000:0.9820,esp5400:0.9819,ExAC:0.9950,clinvar:rs2562831,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:244357,GnomAD_AN_exome:245394,GnomAD_AC_genome:30456,GnomAD_AN_genome:30948,GnomAD:0.9945;SGVEP=TTN|-|NM_001256850|78|c.22272G>A|p.(Gln7424:)|synonymous GT:DP:AD:DP4 1/1:48:0,48:0,0,25,23 2 179600563 138144 G A 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=226;DEA=100;QA=37;PBP=1634;PBM=1634;TYPE=SNP;DBXREF=dbSNP:rs2742348,g1000:0.9818,esp5400:0.9814,ExAC:0.9950,clinvar:rs2742348,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:244542,GnomAD_AN_exome:245602,GnomAD_AC_genome:30462,GnomAD_AN_genome:30956,GnomAD:0.9944;SGVEP=TTN|-|NM_001256850|48|c.13659C>T|p.(Ser4553:)|synonymous GT:DP:AD:DP4 1/1:110:0,110:0,0,55,55 2 179614952 138496 A G 3138 PASS VARTYPE=1;BGN=0.00104216;ARL=230;DEA=112;QA=37;PBP=1575;PBM=1575;TYPE=SNP;DBXREF=dbSNP:rs10803917,g1000:0.9750,esp5400:0.9709,ExAC:0.9930,clinvar:rs10803917,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:244276,GnomAD_AN_exome:245630,GnomAD_AC_genome:30121,GnomAD_AN_genome:30864,GnomAD:0.9924;SGVEP=TTN|-|NM_133379|46|c.12175T>C|p.(Leu4059:)|synonymous GT:DP:AD:DP4 1/1:106:0,106:0,0,53,53 2 179615887 138526 T C 1158 PASS VARTYPE=1;BGN=0.00125468;ARL=250;DEA=93;QA=36;PBP=580;PBM=580;TYPE=SNP;DBXREF=dbSNP:rs922984,g1000:0.7330,esp5400:0.8148,ExAC:0.8260,PhyloP:2.3260,SIFT:0.8030,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:4.5400,clinvar:rs922984,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:200081,GnomAD_AN_exome:243754,GnomAD_AC_genome:25139,GnomAD_AN_genome:30830,GnomAD:0.8202;SGVEP=TTN|-|NM_133379|46|c.11240A>G|p.(Asp3747Gly)|missense GT:DP:AD:DP4 1/1:40:0,40:0,0,20,20 2 179615931 138528 C G 833 PASS VARTYPE=1;BGN=0.00104216;ARL=250;DEA=114;QA=37;PBP=387;PBM=447;TYPE=SNP;DBXREF=dbSNP:rs922985,g1000:0.9750,esp5400:0.9709,ExAC:0.9930,PhyloP:1.5160,SIFT:0.8970,PolyPhen2:0.0040,PolyPhen2_HumDiv:0.0030,MutationTaster:0.0000,GERP:3.9000,clinvar:rs922985,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:240681,GnomAD_AN_exome:242024,GnomAD_AC_genome:30124,GnomAD_AN_genome:30858,GnomAD:0.9924;SGVEP=TTN|-|NM_133379|46|c.11196G>C|p.(Leu3732Phe)|missense GT:DP:AD:DP4 1/1:28:0,28:0,0,13,15 2 179615994 138531 T C 1071 PASS VARTYPE=1;BGN=0.00104216;ARL=237;DEA=109;QA=37;PBP=536;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs922986,g1000:0.9750,esp5400:0.9708,ExAC:0.9930,clinvar:rs922986,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:240262,GnomAD_AN_exome:241616,GnomAD_AC_genome:30145,GnomAD_AN_genome:30886,GnomAD:0.9923;SGVEP=TTN|-|NM_133379|46|c.11133A>G|p.(Thr3711:)|synonymous GT:DP:AD:DP4 1/1:36:0,36:0,0,18,18 2 179620951 138560 C T 1575 PASS VARTYPE=1;BGN=0.00104216;ARL=240;DEA=49;QA=37;PBP=833;PBM=744;TYPE=SNP;DBXREF=dbSNP:rs7585334,g1000:0.8045,esp5400:0.8999,ExAC:0.8490,PhyloP:0.8710,SIFT:0.0000,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0050,MutationTaster:1.0000,GERP:4.2000,clinvar:rs7585334,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:201072,GnomAD_AN_exome:239750,GnomAD_AC_genome:27228,GnomAD_AN_genome:30922,GnomAD:0.8435;SGVEP=TTN|-|NM_001267550|46|c.11252G>A|p.(Gly3751Asp)|missense GT:DP:AD:DP4 1/1:53:0,53:0,0,28,25 2 179621477 138579 C T 1693 PASS VARTYPE=1;BGN=0.00104216;ARL=224;DEA=52;QA=37;PBP=774;PBM=922;TYPE=SNP;DBXREF=dbSNP:rs6433728,g1000:0.9990,esp5400:0.9992,ExAC:1.0000,PhyloP:0.1640,SIFT:0.3490,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:1.9200,clinvar:rs6433728,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:245279,GnomAD_AN_exome:245342,GnomAD_AC_genome:30932,GnomAD_AN_genome:30956,GnomAD:0.9997;SGVEP=TTN|-|NM_001267550|46|c.10726G>A|p.(Ala3576Thr)|missense GT:DP:AD:DP4 1/1:57:0,57:0,0,26,31 2 179623758 138592 C T 2495 PASS VARTYPE=1;BGN=0.000865644;ARL=222;DEA=78;QA=38;PBP=1251;PBM=1251;TYPE=SNP;DBXREF=dbSNP:rs2291310,g1000:0.8089,esp5400:0.8990,ExAC:0.8510,PhyloP:-0.5970,SIFT:0.4670,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0030,MutationTaster:0.0000,GERP:-3.2300,clinvar:rs2291310,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:206872,GnomAD_AN_exome:245922,GnomAD_AC_genome:27332,GnomAD_AN_genome:30924,GnomAD:0.8460;SGVEP=TTN|-|NM_001256850|44|c.10256G>A|p.(Ser3419Asn)|missense GT:DP:AD:DP4 1/1:82:0,82:0,0,41,41 2 179623939 151208455 T C 1811 off_target VARTYPE=1;BGN=0.00104216;ARL=230;DEA=71;QA=37;PBP=893;PBM=922;TYPE=SNP;DBXREF=dbSNP:rs6705594,g1000:0.9984,esp5400:0.9990,ExAC:1.0000,GnomAD_AC_exome:242674,GnomAD_AN_exome:242762,GnomAD_AC_genome:30937,GnomAD_AN_genome:30966,GnomAD:0.9996;SGVEP=TTN|-|NM_001256850|44|c.10115-40A>G|.|intronic GT:DP:AD:DP4 1/1:61:0,61:0,0,30,31 2 179629363 138618 T C 3197 PASS VARTYPE=1;BGN=0.00104216;ARL=214;DEA=106;QA=37;PBP=1604;PBM=1604;TYPE=SNP;DBXREF=dbSNP:rs4894043,g1000:0.9736,esp5400:0.9687,ExAC:0.9920,clinvar:rs4894043,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:244384,GnomAD_AN_exome:245838,GnomAD_AC_genome:30184,GnomAD_AN_genome:30976,GnomAD:0.9919;SGVEP=TTN|-|NM_001256850|42|c.9879A>G|p.(Glu3293:)|synonymous GT:DP:AD:DP4 1/1:108:0,108:0,0,54,54 2 179629461 138629 C T 2726 PASS VARTYPE=1;BGN=0.00104216;ARL=219;DEA=103;QA=37;PBP=1367;PBM=1367;TYPE=SNP;DBXREF=dbSNP:rs2291311,g1000:0.8049,esp5400:0.8928,ExAC:0.8500,PhyloP:1.4230,SIFT:0.8950,PolyPhen2:0.8710,PolyPhen2_HumDiv:0.9990,MutationTaster:0.0010,GERP:4.8200,clinvar:rs2291311,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:206324,GnomAD_AN_exome:245606,GnomAD_AC_genome:27225,GnomAD_AN_genome:30936,GnomAD:0.8445;SGVEP=TTN|-|NM_001256850|42|c.9781G>A|p.(Val3261Met)|missense GT:DP:AD:DP4 1/1:92:0,92:0,0,46,46 2 179632710 151209091 T C 2933 off_target VARTYPE=1;BGN=0.00125468;ARL=235;DER=126;DEA=93;QR=36;QA=36;PBP=1487;PBM=1458;TYPE=SNP;DBXREF=dbSNP:rs2291313,g1000:0.5040,esp5400:0.6805,ExAC:0.6650,GnomAD_AC_exome:162580,GnomAD_AN_exome:245944,GnomAD_AC_genome:20638,GnomAD_AN_genome:30886,GnomAD:0.6618;SGVEP=TTN|-|NM_001256850|39|c.9305+31A>G|.|intronic GT:DP:AD:DP4 1/1:105:2,103:1,1,52,51 2 179633298 151209170 G T 417 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=280;DEA=45;QA=37;PBP=179;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs4471922,g1000:0.5575,GnomAD_AC_genome:22256,GnomAD_AN_genome:30908,GnomAD:0.7201;SGVEP=TTN|-|NM_001256850|38|c.9163+102C>A|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,6,8 2 179634376 138682 GTA G 742 off_target VARTYPE=1;BGN=0.000865644;ARL=225;DER=65;DEA=66;QR=37;QA=74;PBP=370;PBM=377;TYPE=INDEL;DBXREF=dbSNP:rs794729235,ExAC:0.7870,clinvar:rs794729235,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:107191,GnomAD_AN_exome:122460,GnomAD_AC_genome:23923,GnomAD_AN_genome:28000,GnomAD:0.8714;SGVEP=TTN|-|NM_001256850|37|c.8902+28_8902+29del|.|intronic GT:DP:AD:DP4 1/1:31:5,26:3,2,13,13 2 179635882 151209528 C T 863 off_target VARTYPE=1;BGN=0.00104216;ARL=257;DEA=45;QA=37;PBP=447;PBM=417;TYPE=SNP;DBXREF=dbSNP:rs4894047,g1000:0.9679,GnomAD_AC_genome:30155,GnomAD_AN_genome:30982,GnomAD:0.9733;SGVEP=TTN|-|NM_001256850|34|c.8116+56G>A|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,15,14 2 179638238 138740 G A 842 PASS VARTYPE=1;BGN=0.00104216;ARL=239;DER=92;DEA=84;QR=37;QA=37;PBP=399;PBM=452;TYPE=SNP;DBXREF=dbSNP:rs2291306,g1000:0.0755,esp5400:0.1015,ExAC:0.0910,clinvar:rs2291306,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:22263,GnomAD_AN_exome:245680,GnomAD_AC_genome:2915,GnomAD_AN_genome:30956,GnomAD:0.0910;SGVEP=TTN|-|NM_001256850|32|c.7545C>T|p.(Tyr2515:)|synonymous GT:DP:AD:DP4 0/1:80:44,36:22,22,17,19 2 179642425 138880 G A 922 off_target VARTYPE=1;BGN=0.00104216;ARL=262;DEA=116;QA=37;PBP=477;PBM=447;TYPE=SNP;DBXREF=dbSNP:rs719201,g1000:0.9115,esp5400:0.9457,ExAC:0.9590,clinvar:rs719201,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:236036,GnomAD_AN_exome:245586,GnomAD_AC_genome:29177,GnomAD_AN_genome:30962,GnomAD:0.9590;SGVEP=TTN|-|NM_001256850|25|c.4480+6C>T|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,16,15 2 179643886 151210651 A G 1308 off_target VARTYPE=1;BGN=0.00104216;ARL=233;DEA=64;QA=37;PBP=655;PBM=655;TYPE=SNP;DBXREF=dbSNP:rs2291302,g1000:0.9199,esp5400:0.9497,ExAC:0.9600,GnomAD_AC_exome:234696,GnomAD_AN_exome:243876,GnomAD_AC_genome:29298,GnomAD_AN_genome:30962,GnomAD:0.9605;SGVEP=TTN|-|NM_001256850|24|c.3964-41T>C|.|intronic GT:DP:AD:DP4 1/1:44:0,44:0,0,22,22 2 179643934 151210658 A G 1041 off_target VARTYPE=1;BGN=0.00104216;ARL=230;DEA=96;QA=37;PBP=506;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs2291301,g1000:0.9201,esp5400:0.9513,ExAC:0.9600,GnomAD_AC_exome:235458,GnomAD_AN_exome:244666,GnomAD_AC_genome:29300,GnomAD_AN_genome:30956,GnomAD:0.9606;SGVEP=TTN|-|NM_001256850|23|c.3963+22T>C|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,17,18 2 179644035 138920 G A 1130 PASS VARTYPE=1;BGN=0.00104216;ARL=218;DEA=98;QA=37;PBP=566;PBM=566;TYPE=SNP;DBXREF=dbSNP:rs1552280,g1000:0.9201,esp5400:0.9495,ExAC:0.9600,PhyloP:1.0080,SIFT:0.6710,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0010,GERP:5.7200,clinvar:rs1552280,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:235881,GnomAD_AN_exome:245120,GnomAD_AC_genome:29286,GnomAD_AN_genome:30948,GnomAD:0.9605;SGVEP=TTN|-|NM_001256850|23|c.3884C>T|p.(Ser1295Leu)|missense GT:DP:AD:DP4 1/1:38:0,38:0,0,19,19 2 179644855 138934 T C 2313 PASS VARTYPE=1;BGN=0.00104216;ARL=200;DEA=85;QA=37;PBP=1160;PBM=1160;TYPE=SNP;DBXREF=dbSNP:rs10497520,g1000:0.5002,esp5400:0.7314,ExAC:0.6940,PhyloP:2.2040,SIFT:0.8900,PolyPhen2:0.4530,PolyPhen2_HumDiv:0.8600,MutationTaster:0.2040,GERP:4.5600,clinvar:rs10497520,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:169142,GnomAD_AN_exome:245670,GnomAD_AC_genome:21703,GnomAD_AN_genome:30892,GnomAD:0.6901;SGVEP=TTN|-|NM_001256850|22|c.3601A>G|p.(Lys1201Glu)|missense GT:DP:AD:DP4 1/1:78:0,78:0,0,39,39 2 179650701 139023 C T 1515 PASS VARTYPE=1;BGN=0.00104216;ARL=215;DER=86;DEA=95;QR=37;QA=37;PBP=790;PBM=737;TYPE=SNP;DBXREF=dbSNP:rs6715406,g1000:0.2047,esp5400:0.3320,ExAC:0.3190,clinvar:rs6715406,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:78130,GnomAD_AN_exome:245836,GnomAD_AC_genome:10480,GnomAD_AN_genome:30900,GnomAD:0.3202;SGVEP=TTN|-|NM_001256850|14|c.2244G>A|p.(Glu748:)|synonymous GT:DP:AD:DP4 0/1:132:68,64:34,34,33,31 2 179667090 151212762 C T 1297 off_target VARTYPE=1;BGN=0.00104216;ARL=220;DER=57;DEA=53;QR=37;QA=37;PBP=613;PBM=695;TYPE=SNP;DBXREF=dbSNP:rs3816849,g1000:0.7035,esp5400:0.6003,ExAC:0.6190,GnomAD_AC_exome:147767,GnomAD_AN_exome:233228,GnomAD_AC_genome:19713,GnomAD_AN_genome:30902,GnomAD:0.6341;SGVEP=TTN|-|NM_001256850|3|c.92-22G>A|.|intronic GT:DP:AD:DP4 0/1:116:61,55:31,30,26,29 2 182403792 151353508 A AT 306 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=251;DEA=52;QA=38;PBP=153;PBM=153;TYPE=INDEL;DBXREF=dbSNP:rs57234957,g1000:0.9912,ExAC:0.9970,GnomAD_AC_exome:245323,GnomAD_AN_exome:245820,GnomAD_AC_genome:30744,GnomAD_AN_genome:30950,GnomAD:0.9975;SGVEP=CERKL|-|NM_001030311|13|c.1616+26_1616+27insA|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 182403851 139152 G A 625 PASS VARTYPE=1;BGN=0.00104216;ARL=230;DEA=60;QA=37;PBP=328;PBM=298;TYPE=SNP;DBXREF=dbSNP:rs10180793,g1000:0.9912,esp5400:0.9926,ExAC:0.9970,clinvar:rs10180793,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:245566,GnomAD_AN_exome:246064,GnomAD_AC_genome:30728,GnomAD_AN_genome:30936,GnomAD:0.9975;SGVEP=CERKL|-|NM_001030311|13|c.1584C>T|p.(Asp528:)|synonymous GT:DP:AD:DP4 1/1:21:0,21:0,0,11,10 2 182412633 151354070 G GACACACACACACAC 186 off_target VARTYPE=1;BGN=0.000865644;ARL=240;DER=45;DEA=110;QR=36;QA=512;PBP=61;PBM=132;SP=1;NVF=0.50;TYPE=INDEL;DBXREF=dbSNP:rs58144427,GnomAD_AC_genome:20526,GnomAD_AN_genome:30124,GnomAD:0.6814;SGVEP=CERKL|-|NM_001030311|10|c.1212-60_1212-59insGTGTGTGTGTGTGT|.|intronic GT:DP:AD:DP4 0/1:45:32,9:16,16,3,6 2 182412723 151354077 C CGT 189 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=277;DER=26;DEA=61;QR=37;QA=74;PBP=82;PBM=111;SP=0;NVF=0.50;TYPE=INDEL;DBXREF=dbSNP:rs34890422,g1000:0.8201,GnomAD_AC_genome:23021,GnomAD_AN_genome:30788,GnomAD:0.7477;SGVEP=CERKL|-|NM_001030311|10|c.1212-151_1212-150dup|.|intronic GT:DP:AD:DP4 0/1:11:4,7:2,2,3,4 2 182413259 151354127 A G 101 low_variant_fraction;off_target VARTYPE=1;BGN=0.00104216;ARL=222;DER=51;DEA=65;QR=37;QA=37;PBP=64;PBM=41;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12997453,g1000:0.6484,esp5400:0.5949,ExAC:0.6130,clinvar:rs12997453,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:146745,GnomAD_AN_exome:240508,GnomAD_AC_genome:17898,GnomAD_AN_genome:30882,GnomAD:0.6067;SGVEP=CERKL|-|NM_001030311|9|c.1211+13T>C|.|intronic GT:DP:AD:DP4 0/1:26:21,5:11,10,3,2 2 182413602 139155 A T 672 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DER=68;DEA=54;QR=36;QA=37;PBP=314;PBM=365;TYPE=SNP;DBXREF=dbSNP:rs13003064,g1000:0.6480,esp5400:0.5944,ExAC:0.6160,clinvar:rs13003064,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:149457,GnomAD_AN_exome:244624,GnomAD_AC_genome:17882,GnomAD_AN_genome:30880,GnomAD:0.6074;SGVEP=CERKL|-|NM_001030311|8|c.974-18T>A|.|intronic GT:DP:AD:DP4 0/1:57:29,28:14,15,13,15 2 182521578 139168 G A 1618 PASS VARTYPE=1;BGN=0.00104216;ARL=212;DER=103;DEA=103;QR=37;QA=37;PBP=871;PBM=761;TYPE=SNP;DBXREF=dbSNP:rs1473295,g1000:0.5074,esp5400:0.4006,ExAC:0.5180,clinvar:rs1473295,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:124199,GnomAD_AN_exome:235434,GnomAD_AC_genome:12526,GnomAD_AN_genome:30772,GnomAD:0.5136;SGVEP=CERKL|-|NM_001030311|1|c.156C>T|p.(Phe52:)|synonymous GT:DP:AD:DP4 0/1:137:69,68:34,35,36,32 2 182543455 151360922 T C 869 PASS VARTYPE=1;BGN=0.000865644;ARL=230;DER=107;DEA=116;QR=35;QA=38;PBP=453;PBM=426;TYPE=SNP;DBXREF=dbSNP:rs1801262,g1000:0.7708,esp5400:0.6722,ExAC:0.6960,PhyloP:0.7410,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.8560,MutationTaster:1.0000,GERP:4.4300,GnomAD_AC_exome:169948,GnomAD_AN_exome:242316,GnomAD_AC_genome:21079,GnomAD_AN_genome:30876,GnomAD:0.6992;SGVEP=NEUROD1|-|NM_002500|2|c.133A>G|p.(Thr45Ala)|missense GT:DP:AD:DP4 0/1:93:56,37:28,28,19,18 2 183817724 151425092 A G 536 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=249;DEA=55;QA=37;PBP=268;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs35971883,g1000:0.0984,GnomAD_AC_genome:2988,GnomAD_AN_genome:30956,GnomAD:0.0965;SGVEP=NCKAP1|-|NM_013436|22|c.2373-73T>C|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 183817957 151425117 T A 1397 PASS VARTYPE=1;BGN=0.00104216;ARL=212;DEA=92;QA=37;PBP=685;PBM=714;TYPE=SNP;DBXREF=dbSNP:rs66829551,g1000:0.0986,esp5400:0.1117,ExAC:0.0730,GnomAD_AC_exome:17516,GnomAD_AN_exome:246010,GnomAD_AC_genome:2999,GnomAD_AN_genome:30962,GnomAD:0.0741;SGVEP=NCKAP1|-|NM_013436|21|c.2256A>T|p.(Ser752:)|synonymous GT:DP:AD:DP4 1/1:47:0,47:0,0,23,24 2 183829635 151425792 C T 358 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=261;DEA=52;QA=37;PBP=179;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs12994001,g1000:0.1707,GnomAD_AC_genome:4904,GnomAD_AN_genome:30930,GnomAD:0.1586;SGVEP=NCKAP1|-|NM_013436|17|c.1629-99G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 183848114 151426744 T C 954 PASS VARTYPE=1;BGN=0.00104216;ARL=209;DER=24;DEA=65;QR=38;QA=37;PBP=464;PBM=494;TYPE=SNP;DBXREF=dbSNP:rs1400130,g1000:0.2969,esp5400:0.3681,ExAC:0.2270,GnomAD_AC_exome:53115,GnomAD_AN_exome:244680,GnomAD_AC_genome:9976,GnomAD_AN_genome:30896,GnomAD:0.2289;SGVEP=NCKAP1|-|NM_013436|11|c.1005-4A>G|.|intronic GT:DP:AD:DP4 1/1:35:2,33:1,1,16,17 2 188216783 151643782 C T 142 low_variant_fraction;off_target VARTYPE=1;BGN=0.000865644;ARL=251;DER=95;DEA=33;QR=37;QA=38;PBP=85;PBM=63;SP=0;TYPE=SNP;DBXREF=dbSNP:rs858744,g1000:0.2895,GnomAD_AC_genome:9717,GnomAD_AN_genome:30800,GnomAD:0.3155;SGVEP=CALCRL|-|NM_001271751|12|c.1128+58G>A|.|intronic GT:DP:AD:DP4 0/1:39:31,7:17,14,4,3 2 188216807 151643787 T C 1397 off_target VARTYPE=1;BGN=0.00104216;ARL=248;DEA=82;QA=37;PBP=774;PBM=625;TYPE=SNP;DBXREF=dbSNP:rs858745,g1000:0.8267,esp5400:0.8807,ExAC:0.8460,GnomAD_AC_exome:206651,GnomAD_AN_exome:244374,GnomAD_AC_genome:27002,GnomAD_AN_genome:30830,GnomAD:0.8490;SGVEP=CALCRL|-|NM_001271751|12|c.1128+34A>G|.|intronic GT:DP:AD:DP4 1/1:47:0,47:0,0,26,21 2 188224057 151644197 A G 451 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=205;DEA=40;QA=35;PBP=169;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs1706287,g1000:0.8283,esp5400:0.8847,GnomAD_AC_genome:26900,GnomAD_AN_genome:30706,GnomAD:0.8761;SGVEP=CALCRL|-|NM_001271751|10|c.782-58T>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,6,10 2 188243633 151645168 A G 343 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=232;DER=15;DEA=61;QR=38;QA=37;PBP=188;PBM=160;TYPE=SNP;DBXREF=dbSNP:rs3771084,g1000:0.5471,esp5400:0.5109,ExAC:0.5680,GnomAD_AC_exome:138475,GnomAD_AN_exome:235698,GnomAD_AC_genome:16619,GnomAD_AN_genome:30840,GnomAD:0.5819;SGVEP=CALCRL|-|NM_001271751|7|c.500+34T>C|.|intronic GT:DP:AD:DP4 0/1:19:6,13:3,3,7,6 2 188245640 151645324 G A 625 off_target VARTYPE=1;BGN=0.00104216;ARL=264;DEA=18;QA=37;PBP=298;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs1511877,g1000:0.9673,GnomAD_AC_genome:29970,GnomAD_AN_genome:30838,GnomAD:0.9719;SGVEP=CALCRL|-|NM_001271751|5|c.185-126C>T|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,10,11 2 188332692 151649060 A G 424 off_target VARTYPE=1;BGN=0.00125468;ARL=246;DER=59;DEA=74;QR=37;QA=36;PBP=201;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs8176592,g1000:0.2995,esp5400:0.3400,ExAC:0.2940,GnomAD_AC_exome:56055,GnomAD_AN_exome:186646,GnomAD_AC_genome:10136,GnomAD_AN_genome:30870,GnomAD:0.3043;SGVEP=TFPI|-|NM_001329239|9|c.629-33T>C|.|intronic GT:DP:AD:DP4 0/1:27:10,17:5,5,8,9 2 188343497 151649588 T C 675 PASS VARTYPE=1;BGN=0.000865644;ARL=234;DER=79;DEA=93;QR=37;QA=38;PBP=347;PBM=337;TYPE=SNP;DBXREF=dbSNP:rs7586970,g1000:0.2817,esp5400:0.3238,ExAC:0.2930,PhyloP:1.7380,SIFT:0.5280,PolyPhen2:0.0450,PolyPhen2_HumDiv:0.1940,MutationTaster:1.0000,GERP:3.5700,GnomAD_AC_exome:69994,GnomAD_AN_exome:245340,GnomAD_AC_genome:9709,GnomAD_AN_genome:30900,GnomAD:0.2885;SGVEP=TFPI|-|NM_001032281|7|c.662A>G|p.(Asn221Ser)|missense GT:DP:AD:DP4 0/1:64:36,28:16,20,14,14 2 189864582 139486 T C 626 PASS VARTYPE=1;BGN=0.00104216;ARL=204;DER=84;DEA=93;QR=36;QA=37;PBP=303;PBM=330;TYPE=SNP;DBXREF=dbSNP:rs1801184,g1000:0.2121,esp5400:0.2878,ExAC:0.2220,clinvar:rs1801184,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:50201,GnomAD_AN_exome:214664,GnomAD_AC_genome:7776,GnomAD_AN_genome:30884,GnomAD:0.2361;SGVEP=COL3A1|+|NM_000090|32|c.2244T>C|p.(Gly748:)|synonymous GT:DP:AD:DP4 0/1:43:18,25:9,9,12,13 2 189866199 151722806 T A 339 off_target VARTYPE=1;BGN=0.000865644;ARL=215;DER=52;DEA=48;QR=36;QA=38;PBP=171;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs2271682,g1000:0.7764,esp5400:0.6982,ExAC:0.7590,clinvar:rs2271682,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:188039,GnomAD_AN_exome:246152,GnomAD_AC_genome:22861,GnomAD_AN_genome:30922,GnomAD:0.7612;SGVEP=COL3A1|+|NM_000090|33|c.2337+23T>A|.|intronic GT:DP:AD:DP4 0/1:33:19,14:10,9,7,7 2 189870246 151723240 A C 183 off_target VARTYPE=1;BGN=0.000865644;ARL=249;DER=67;DEA=42;QR=36;QA=38;PBP=70;PBM=118;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7583195,g1000:0.0847,GnomAD_AC_genome:2690,GnomAD_AN_genome:30948,GnomAD:0.0869;SGVEP=COL3A1|+|NM_000090|41|c.3039+63A>C|.|intronic GT:DP:AD:DP4 0/1:26:18,8:8,10,3,5 2 189875421 139705 T G 1604 PASS VARTYPE=1;BGN=0.00104216;ARL=217;DEA=66;QA=37;PBP=774;PBM=833;TYPE=SNP;DBXREF=dbSNP:rs1516446,g1000:0.9966,esp5400:0.9944,ExAC:0.9990,PhyloP:0.0030,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0180,GERP:1.4200,clinvar:rs1516446,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:245776,GnomAD_AN_exome:246070,GnomAD_AC_genome:30847,GnomAD_AN_genome:30978,GnomAD:0.9985;SGVEP=COL3A1|+|NM_000090|50|c.4059T>G|p.(His1353Gln)|missense GT:DP:AD:DP4 1/1:54:0,54:0,0,26,28 2 189899572 151725149 T C 774 off_target VARTYPE=1;BGN=0.00104216;ARL=224;DEA=26;QA=37;PBP=417;PBM=358;TYPE=SNP;DBXREF=dbSNP:rs7420715,g1000:0.8448,GnomAD_AC_genome:28047,GnomAD_AN_genome:30946,GnomAD:0.9063;SGVEP=COL5A2|-|NM_000393|53|c.4353+70A>G|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,14,12 2 189901295 151725271 G A 506 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=219;DEA=56;QA=37;PBP=268;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs12693526,g1000:0.6434,esp5400:0.7120,ExAC:0.6990,clinvar:rs12693526,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:148188,GnomAD_AN_exome:202110,GnomAD_AC_genome:22414,GnomAD_AN_genome:30852,GnomAD:0.7323;SGVEP=COL5A2|-|NM_000393|52|c.4113+47C>T|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 2 189907937 139756 A G 1841 PASS VARTYPE=1;BGN=0.00104216;ARL=228;DEA=105;QA=37;PBP=893;PBM=952;TYPE=SNP;DBXREF=dbSNP:rs6434312,g1000:0.9409,esp5400:0.9710,ExAC:0.9540,GnomAD_AC_exome:233672,GnomAD_AN_exome:245964,GnomAD_AC_genome:29835,GnomAD_AN_genome:30954,GnomAD:0.9516;SGVEP=COL5A2|-|NM_000393|48|c.3411T>C|p.(Gly1137:)|synonymous GT:DP:AD:DP4 1/1:62:0,62:0,0,30,32 2 189918787 151726559 C T 522 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=258;DEA=92;QA=36;PBP=261;PBM=261;TYPE=SNP;DBXREF=dbSNP:rs6738371,g1000:0.6404,GnomAD_AC_genome:22390,GnomAD_AN_genome:30898,GnomAD:0.7246;SGVEP=COL5A2|-|NM_000393|36|c.2445+98G>A|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 189923104 151726826 A G 1071 off_target VARTYPE=1;BGN=0.00104216;ARL=225;DEA=47;QA=37;PBP=536;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs7556733,g1000:0.9431,esp5400:0.9625,ExAC:0.9590,GnomAD_AC_exome:232571,GnomAD_AN_exome:243032,GnomAD_AC_genome:29865,GnomAD_AN_genome:30966,GnomAD:0.9578;SGVEP=COL5A2|-|NM_000393|33|c.2229+51T>C|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,18,18 2 189925548 151727001 T A 428 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=213;DEA=20;QA=38;PBP=214;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs6414122,g1000:0.9425,esp5400:0.9620,ExAC:0.9590,clinvar:rs6414122,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:234268,GnomAD_AN_exome:244824,GnomAD_AC_genome:29834,GnomAD_AN_genome:30952,GnomAD:0.9577;SGVEP=COL5A2|-|NM_000393|31|c.2032-39A>T|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 189927506 151727108 C G 564 off_target VARTYPE=1;BGN=0.00151053;ARL=221;DEA=46;QA=35;PBP=282;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs7424947,g1000:0.8295,GnomAD_AC_genome:27741,GnomAD_AN_genome:30920,GnomAD:0.8972;SGVEP=COL5A2|-|NM_000393|29|c.1977+85G>C|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 2 189932831 139835 T C 1604 PASS VARTYPE=1;BGN=0.00104216;ARL=204;DEA=73;QA=37;PBP=774;PBM=833;TYPE=SNP;DBXREF=dbSNP:rs2229495,g1000:0.9429,esp5400:0.9622,ExAC:0.9590,GnomAD_AC_exome:235303,GnomAD_AN_exome:245922,GnomAD_AC_genome:29847,GnomAD_AN_genome:30948,GnomAD:0.9577;SGVEP=COL5A2|-|NM_000393|21|c.1311A>G|p.(Pro437:)|synonymous GT:DP:AD:DP4 1/1:54:0,54:0,0,26,28 2 189974958 139867 G T 2549 PASS VARTYPE=1;BGN=0.00104216;ARL=219;DEA=55;QA=37;PBP=1278;PBM=1278;TYPE=SNP;DBXREF=dbSNP:rs4128539,g1000:0.8886,esp5400:0.9404,ExAC:0.9320,clinvar:rs4128539,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:229023,GnomAD_AN_exome:246064,GnomAD_AC_genome:29152,GnomAD_AN_genome:30964,GnomAD:0.9319;SGVEP=COL5A2|-|NM_000393|2|c.315C>A|p.(Thr105:)|synonymous GT:DP:AD:DP4 1/1:86:0,86:0,0,43,43 2 190430177 151751498 A G 648 PASS VARTYPE=1;BGN=0.00104216;ARL=226;DER=103;DEA=77;QR=37;QA=37;PBP=302;PBM=355;TYPE=SNP;DBXREF=dbSNP:rs2304704,g1000:0.5501,esp5400:0.5015,ExAC:0.6140,clinvar:rs2304704,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:154700,GnomAD_AN_exome:246130,GnomAD_AC_genome:15702,GnomAD_AN_genome:30898,GnomAD:0.6151;SGVEP=SLC40A1|-|NM_014585|6|c.663T>C|p.(Val221:)|synonymous GT:DP:AD:DP4 0/1:94:64,30:33,31,14,16 2 190444630 151752287 C G 863 off_target VARTYPE=1;BGN=0.00104216;ARL=222;DEA=60;QA=37;PBP=387;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs1439816,g1000:0.6595,esp5400:0.6875,ExAC:0.7860,GnomAD_AC_exome:196025,GnomAD_AN_exome:245664,GnomAD_AC_genome:22090,GnomAD_AN_genome:30872,GnomAD:0.7887;SGVEP=SLC40A1|-|NM_014585|2|c.44-24G>C|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,13,16 2 190445076 151752313 T G 898 off_target VARTYPE=1;BGN=0.00125468;ARL=226;DEA=44;QA=36;PBP=464;PBM=435;TYPE=SNP;DBXREF=dbSNP:rs4287798,g1000:0.5605,esp5400:0.5693,GnomAD_AC_genome:16705,GnomAD_AN_genome:30884,GnomAD:0.5409;SGVEP=SLC40A1|-|NM_014585|1|c.43+68A>C|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,16,15 2 191109533 151786327 C T 358 off_target VARTYPE=1;BGN=0.00104216;ARL=264;DER=38;DEA=37;QR=37;QA=37;PBP=180;PBM=183;TYPE=SNP;DBXREF=dbSNP:rs11883568,g1000:0.3450,GnomAD_AC_genome:8949,GnomAD_AN_genome:30876,GnomAD:0.2898;SGVEP=HIBCH|-|NM_014362|11|c.891+80G>A|.|intronic GT:DP:AD:DP4 0/1:23:9,14:5,4,7,7 2 191159232 151789142 A G 319 off_target VARTYPE=1;BGN=0.00151053;ARL=230;DER=65;DEA=23;QR=38;QA=35;PBP=162;PBM=162;TYPE=SNP;DBXREF=dbSNP:rs188339,g1000:0.6843,esp5400:0.7203,ExAC:0.7390,GnomAD_AC_exome:183461,GnomAD_AN_exome:245916,GnomAD_AC_genome:22651,GnomAD_AN_genome:30876,GnomAD:0.7446;SGVEP=HIBCH|-|NM_014362|4|c.304+40T>C|.|intronic GT:DP:AD:DP4 0/1:28:14,14:7,7,7,7 2 191161622 151789305 T C 434 PASS VARTYPE=1;BGN=0.00104216;ARL=206;DER=89;DEA=88;QR=37;QA=37;PBP=220;PBM=221;TYPE=SNP;DBXREF=dbSNP:rs1058180,g1000:0.6843,esp5400:0.7219,ExAC:0.7390,PhyloP:1.2740,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.3300,clinvar:rs1058180,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:183586,GnomAD_AN_exome:246132,GnomAD_AC_genome:22689,GnomAD_AN_genome:30926,GnomAD:0.7445;SGVEP=HIBCH|-|NM_014362|3|c.136A>G|p.(Thr46Ala)|missense GT:DP:AD:DP4 0/1:103:81,22:41,40,11,11 2 191175639 151790110 GTTTT GTTT 224 off_target VARTYPE=1;BGN=0.0185336;ARL=265;DER=3;DEA=48;QR=33;QA=38;HL=4;PBP=101;PBM=133;TYPE=INDEL;DBXREF=dbSNP:rs397743364,g1000:0.7159,GnomAD_AC_genome:24397,GnomAD_AN_genome:30896,GnomAD:0.7896;SGVEP=HIBCH|-|NM_014362|2|c.36-118del|.|intronic GT:DP:AD:DP4 0/1:23:6,16:3,3,7,9 2 191184475 151790604 A G 1335 PASS VARTYPE=1;BGN=0.00125468;ARL=218;DER=72;DEA=83;QR=37;QA=36;PBP=688;PBM=658;TYPE=SNP;DBXREF=dbSNP:rs291466,g1000:0.4317,esp5400:0.5500,ExAC:0.5190,PhyloP:1.9880,SIFT:1.0000,PolyPhen2:0.0400,PolyPhen2_HumDiv:0.0650,LRT:0.9980,MutationTaster:1.0000,GERP:3.8800,clinvar:rs291466,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:123422,GnomAD_AN_exome:240322,GnomAD_AC_genome:16414,GnomAD_AN_genome:30912,GnomAD:0.5156;SGVEP=HIBCH|-|NM_014362|1|c.2T>C|p.(Met1?)|no-start GT:DP:AD:DP4 0/1:108:51,57:25,26,29,28 2 191184524 151790625 C T 1763 off_target VARTYPE=1;BGN=0.00125468;ARL=233;DEA=62;QA=36;PBP=840;PBM=927;TYPE=SNP;DBXREF=dbSNP:rs3749022,g1000:0.5487,esp5400:0.6545,ExAC:0.6640,clinvar:rs3749022,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:141261,GnomAD_AN_exome:208034,GnomAD_AC_genome:19629,GnomAD_AN_genome:30924,GnomAD:0.6733;SGVEP=HIBCH|-|NM_014362|1|c.-48G>A|.|5'UTR GT:DP:AD:DP4 1/1:61:0,61:0,0,29,32 2 191839464 151822198 G A 328 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=260;DER=64;DEA=33;QR=37;QA=36;PBP=194;PBM=137;TYPE=SNP;DBXREF=dbSNP:rs2066793,g1000:0.0695,GnomAD_AC_genome:3291,GnomAD_AN_genome:30944,GnomAD:0.1064;SGVEP=STAT1|-|NM_007315|24|c.2238+92C>T|.|intronic GT:DP:AD:DP4 1/1:14:2,12:1,1,7,5 2 191848312 151822783 T C 387 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=222;DEA=23;QA=37;PBP=209;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs12477076,g1000:0.9998,GnomAD_AC_genome:30975,GnomAD_AN_genome:30978,GnomAD:0.9999;SGVEP=STAT1|-|NM_007315|17|c.1446+56A>G|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 2 191895607 151825552 C T 186 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=248;DER=21;DEA=76;QR=35;QA=36;PBP=95;PBM=95;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3024903,g1000:0.1194,GnomAD_AC_genome:2954,GnomAD_AN_genome:30954,GnomAD:0.0954;SGVEP=STAT4|-|NM_001243835|23|c.2220+91G>A|.|intronic GT:DP:AD:DP4 0/1:18:8,8:4,4,4,4 2 191922841 151827108 G A 418 PASS VARTYPE=1;BGN=0.00104216;ARL=222;DER=70;DEA=91;QR=37;QA=37;PBP=211;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs3024866,g1000:0.4964,esp5400:0.5683,ExAC:0.6410,clinvar:rs3024866,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:157899,GnomAD_AN_exome:245710,GnomAD_AC_genome:17839,GnomAD_AN_genome:30874,GnomAD:0.6354;SGVEP=STAT4|-|NM_001243835|13|c.1113-4C>T|.|intronic GT:DP:AD:DP4 0/1:43:25,18:13,12,9,9 2 191923026 151827126 T C 305 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=232;DER=34;DEA=53;QR=38;QA=38;PBP=140;PBM=169;TYPE=SNP;DBXREF=dbSNP:rs1818625,g1000:0.5312,esp5400:0.6591,GnomAD_AC_genome:18415,GnomAD_AN_genome:30906,GnomAD:0.5958;SGVEP=STAT4|-|NM_001243835|12|c.1095-81A>G|.|intronic GT:DP:AD:DP4 0/1:15:4,11:2,2,5,6 2 191923543 151827173 G C 299 off_target VARTYPE=1;BGN=0.00104216;ARL=208;DER=33;DEA=60;QR=37;QA=37;PBP=152;PBM=152;TYPE=SNP;DBXREF=dbSNP:rs3024865,g1000:0.0865,esp5400:0.1246,ExAC:0.1040,GnomAD_AC_exome:19983,GnomAD_AN_exome:172750,GnomAD_AC_genome:3434,GnomAD_AN_genome:30828,GnomAD:0.1150;SGVEP=STAT4|-|NM_001243835|11|c.1035-48C>G|.|intronic GT:DP:AD:DP4 0/1:22:10,12:5,5,6,6 2 198257795 152137757 T C 1930 PASS VARTYPE=1;BGN=0.00104216;ARL=221;DEA=62;QA=37;PBP=922;PBM=1011;TYPE=SNP;DBXREF=dbSNP:rs4685,g1000:0.7184,esp5400:0.7407,ExAC:0.6710,PhyloP:0.6600,MutationTaster:1.0000,GERP:3.2100,GnomAD_AC_exome:161990,GnomAD_AN_exome:246032,GnomAD_AC_genome:21035,GnomAD_AN_genome:30914,GnomAD:0.6609;SGVEP=SF3B1|-|NM_012433|24|c.3657A>G|p.(Val1219:)|synonymous GT:DP:AD:DP4 1/1:65:0,65:0,0,31,34 2 198263146 152138070 T C 825 off_target VARTYPE=1;BGN=0.000865644;ARL=234;DEA=43;QA=38;PBP=428;PBM=398;TYPE=SNP;DBXREF=dbSNP:rs16865262,g1000:0.1573,esp5400:0.1815,ExAC:0.1990,GnomAD_AC_exome:48631,GnomAD_AN_exome:240780,GnomAD_AC_genome:5549,GnomAD_AN_genome:30936,GnomAD:0.1994;SGVEP=SF3B1|-|NM_012433|21|c.3134+39A>G|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,14,13 2 198264903 152138172 AAAT A 1874 off_target VARTYPE=1;BGN=0.000865644;ARL=217;DER=7;DEA=95;QR=33;QA=112;PBP=943;PBM=943;TYPE=INDEL;DBXREF=dbSNP:rs869168461,g1000:0.1446,ExAC:0.1730,GnomAD_AC_exome:43249,GnomAD_AN_exome:245060,GnomAD_AC_genome:4726,GnomAD_AN_genome:30896,GnomAD:0.1739;SGVEP=SF3B1|-|NM_012433|20|c.2902-16_2902-14del|.|intronic GT:DP:AD:DP4 1/1:78:12,66:6,6,33,33 2 198265173 152138205 T A 1130 off_target VARTYPE=1;BGN=0.000865644;ARL=220;DEA=67;QA=38;PBP=581;PBM=550;TYPE=SNP;DBXREF=dbSNP:rs788017,g1000:0.7179,esp5400:0.7283,ExAC:0.6670,GnomAD_AC_exome:139414,GnomAD_AN_exome:213146,GnomAD_AC_genome:20926,GnomAD_AN_genome:30714,GnomAD:0.6575;SGVEP=SF3B1|-|NM_012433|19|c.2719-15A>T|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,19,18 2 198265526 152138247 A G 1723 PASS VARTYPE=1;BGN=0.00104216;ARL=228;DEA=104;QA=37;PBP=863;PBM=863;TYPE=SNP;DBXREF=dbSNP:rs788018,g1000:0.7167,esp5400:0.7396,ExAC:0.6710,GnomAD_AC_exome:161755,GnomAD_AN_exome:245876,GnomAD_AC_genome:21015,GnomAD_AN_genome:30876,GnomAD:0.6604;SGVEP=SF3B1|-|NM_012433|18|c.2631T>C|p.(Gly877:)|synonymous GT:DP:AD:DP4 1/1:58:0,58:0,0,29,29 2 198266943 152138370 C T 522 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=262;DEA=50;QA=36;PBP=232;PBM=290;TYPE=SNP;DBXREF=dbSNP:rs788019,g1000:0.9950,GnomAD_AC_genome:30843,GnomAD_AN_genome:30982,GnomAD:0.9955;SGVEP=SF3B1|-|NM_012433|15|c.2078-89G>A|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,8,10 2 198267770 152138454 GAAAA GAAAAAA 762 off_target VARTYPE=1;BGN=0.0185336;ARL=215;DER=7;DEA=67;QR=35;QA=75;HL=4;PBP=398;PBM=364;TYPE=INDEL;DBXREF=dbSNP:rs397804827,g1000:0.7175,ExAC:0.6690,GnomAD_AC_exome:159127,GnomAD_AN_exome:242010,GnomAD_AC_genome:20951,GnomAD_AN_genome:30844,GnomAD:0.6600;SGVEP=SF3B1|-|NM_012433|13|c.1720-13_1720-12dup|.|intronic GT:DP:AD:DP4 0/1:44:12,31:6,6,16,15 2 198267775 152138456 G A 246 off_target VARTYPE=1;BGN=0.00125468;ARL=215;DER=61;DEA=2;QR=37;QA=36;PBP=125;PBM=127;TYPE=SNP;DBXREF=dbSNP:rs77741206,g1000:0.0010,esp5400:0.0003,ExAC:0.0003,GnomAD_AC_exome:57,GnomAD_AN_exome:239194,GnomAD_AC_genome:31,GnomAD_AN_genome:30486,GnomAD:0.0003;SGVEP=SF3B1|-|NM_012433|13|c.1720-16C>T|.|intronic GT:DP:AD:DP4 0/1:43:31,12:16,15,6,6 2 198272956 152138761 C T 296 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=281;DER=74;DEA=63;QR=34;QA=37;PBP=164;PBM=136;TYPE=SNP;DBXREF=dbSNP:rs748213062,GnomAD_AC_genome:4,GnomAD_AN_genome:30940,GnomAD:0.0001;SGVEP=SF3B1|-|NM_012433|9|c.1118-113G>A|.|intronic GT:DP:AD:DP4 0/1:15:4,11:2,2,6,5 2 198273347 152138803 T C 1129 off_target VARTYPE=1;BGN=0.00125468;ARL=245;DEA=45;QA=36;PBP=493;PBM=637;TYPE=SNP;DBXREF=dbSNP:rs77132083,g1000:0.1314,esp5400:0.1438,ExAC:0.1600,GnomAD_AC_exome:39688,GnomAD_AN_exome:238664,GnomAD_AC_genome:4461,GnomAD_AN_genome:30958,GnomAD:0.1637;SGVEP=SF3B1|-|NM_012433|8|c.905-42A>G|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,17,22 2 198281743 152139287 T C 447 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=271;DEA=40;QA=37;PBP=179;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs699318,g1000:0.7151,GnomAD_AC_genome:20904,GnomAD_AN_genome:30930,GnomAD:0.6758;SGVEP=SF3B1|-|NM_012433|6|c.496-108A>G|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,6,9 2 198283305 152139387 T C 535 low_coverage VARTYPE=1;BGN=0.00151053;ARL=246;DEA=110;QA=35;PBP=254;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs788023,g1000:0.7206,esp5400:0.7443,ExAC:0.6720,GnomAD_AC_exome:160602,GnomAD_AN_exome:243922,GnomAD_AC_genome:21103,GnomAD_AN_genome:30862,GnomAD:0.6613;SGVEP=SF3B1|-|NM_012433|5|c.423A>G|p.(Lys141:)|synonymous GT:DP:AD:DP4 1/1:19:0,19:0,0,9,10 2 198570104 152154171 T G 755 off_target VARTYPE=1;BGN=0.00125468;ARL=229;DER=84;DEA=44;QR=34;QA=36;PBP=366;PBM=397;TYPE=SNP;DBXREF=dbSNP:rs202121719,g1000:0.0048,esp5400:0.0059,ExAC:0.0021,GnomAD_AC_exome:347,GnomAD_AN_exome:205632,GnomAD_AC_genome:174,GnomAD_AN_genome:30902,GnomAD:0.0022;SGVEP=MARS2|+|NM_138395|1|c.-26T>G|.|5'UTR GT:DP:AD:DP4 0/1:52:21,31:11,10,15,16 2 200173684 152230676 T G 1389 PASS VARTYPE=1;BGN=0.00125468;ARL=243;DEA=68;QA=36;PBP=609;PBM=782;TYPE=SNP;DBXREF=dbSNP:rs10153730,g1000:0.9309,esp5400:0.9316,ExAC:0.9810,GnomAD_AC_exome:241965,GnomAD_AN_exome:245528,GnomAD_AC_genome:29213,GnomAD_AN_genome:30936,GnomAD:0.9809;SGVEP=SATB2|-|NM_001172509|10|c.1543-4A>C|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,21,27 2 200245245 152233953 C G 1841 off_target VARTYPE=1;BGN=0.00104216;ARL=234;DEA=51;QA=37;PBP=893;PBM=952;TYPE=SNP;DBXREF=dbSNP:rs1348813,g1000:0.4974,esp5400:0.6273,ExAC:0.6650,GnomAD_AC_exome:160823,GnomAD_AN_exome:241202,GnomAD_AC_genome:19792,GnomAD_AN_genome:30924,GnomAD:0.6637;SGVEP=SATB2|-|NM_001172509|5|c.474-35G>C|.|intronic GT:DP:AD:DP4 1/1:62:0,62:0,0,30,32 2 200298313 152236338 A G 477 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=253;DEA=51;QA=37;PBP=238;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs7596597,g1000:0.9319,GnomAD_AC_genome:29239,GnomAD_AN_genome:30964,GnomAD:0.9443;SGVEP=SATB2|-|NM_001172509|3|c.170-76T>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 2 202050677 152321672 A G 1490 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DER=100;DEA=105;QR=37;QA=37;PBP=750;PBM=753;TYPE=SNP;DBXREF=dbSNP:rs3900115,g1000:0.3942,esp5400:0.5059,ExAC:0.4520,clinvar:rs3900115,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:110268,GnomAD_AN_exome:245734,GnomAD_AC_genome:15128,GnomAD_AN_genome:30896,GnomAD:0.4533;SGVEP=CASP10|+|NM_001206524|2|c.177A>G|p.(Ser59:)|synonymous GT:DP:AD:DP4 0/1:141:77,64:39,38,32,32 2 202068433 152322674 C T 190 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=202;DER=41;DEA=62;QR=38;QA=37;PBP=96;PBM=98;SP=0;TYPE=SNP;DBXREF=dbSNP:rs17860401,g1000:0.0327,esp5400:0.0319,ExAC:0.0350,GnomAD_AC_exome:8562,GnomAD_AN_exome:246158,GnomAD_AC_genome:1107,GnomAD_AN_genome:30928,GnomAD:0.0349;SGVEP=CASP10|+|NM_001206524|6|c.685-20C>T|.|intronic GT:DP:AD:DP4 0/1:19:11,8:6,5,4,4 2 202070735 152322832 A T 200 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=199;DER=49;DEA=21;QR=38;QA=37;PBP=101;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs6712872,g1000:0.4625,esp5400:0.5340,ExAC:0.4550,GnomAD_AC_exome:90092,GnomAD_AN_exome:198976,GnomAD_AC_genome:16932,GnomAD_AN_genome:30728,GnomAD:0.4659;SGVEP=CASP10|+|NM_001206524|6|c.721+2246A>T|.|intronic GT:DP:AD:DP4 0/1:15:5,8:3,2,4,4 2 202122995 152325656 A G 782 PASS VARTYPE=1;BGN=0.00104216;ARL=216;DER=64;DEA=54;QR=37;QA=37;PBP=396;PBM=395;TYPE=SNP;DBXREF=dbSNP:rs3769823,g1000:0.6464,esp5400:0.6710,ExAC:0.6670,PhyloP:0.8750,SIFT:0.0000,PolyPhen2:0.0150,PolyPhen2_HumDiv:0.0080,LRT:0.0000,MutationTaster:0.0000,GERP:2.7800,clinvar:rs3769823,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:162482,GnomAD_AN_exome:246142,GnomAD_AC_genome:20381,GnomAD_AN_genome:30798,GnomAD:0.6603;SGVEP=CASP8|+|NM_001080125|1|c.41A>G|p.(Lys14Arg)|missense GT:DP:AD:DP4 0/1:109:73,36:36,37,18,18 2 202131587 152326104 T G 185 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=284;DER=67;DEA=49;QR=36;QA=38;PBP=82;PBM=107;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2293554,g1000:0.2804,GnomAD_AC_genome:5450,GnomAD_AN_genome:30896,GnomAD:0.1764;SGVEP=CASP8|+|NM_001080124|3|c.305+73T>G|.|intronic GT:DP:AD:DP4 0/1:12:5,7:2,3,3,4 2 202149696 152327103 G A 1451 PASS VARTYPE=1;BGN=0.00104216;ARL=233;DER=104;DEA=92;QR=37;QA=37;PBP=789;PBM=675;TYPE=SNP;DBXREF=dbSNP:rs1045487,g1000:0.1753,esp5400:0.1081,ExAC:0.1020,clinvar:rs1045487,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:23312,GnomAD_AN_exome:246242,GnomAD_AC_genome:3018,GnomAD_AN_genome:30898,GnomAD:0.0950;SGVEP=CASP8|+|NM_001080124|8|c.915G>A|p.(Lys305:)|synonymous GT:DP:AD:DP4 0/1:114:54,60:26,28,32,28 2 202151163 152327231 A G 947 off_target VARTYPE=1;BGN=0.00125468;ARL=239;DER=50;DEA=56;QR=36;QA=36;PBP=500;PBM=455;TYPE=SNP;DBXREF=dbSNP:rs3769818,g1000:0.7452,esp5400:0.7425,ExAC:0.7150,GnomAD_AC_exome:172049,GnomAD_AN_exome:245322,GnomAD_AC_genome:22579,GnomAD_AN_genome:30908,GnomAD:0.7046;SGVEP=CASP8|+|NM_001080124|9|c.1260-19A>G|.|intronic GT:DP:AD:DP4 0/1:58:20,38:11,9,20,18 2 202501448 152344730 T C 312 off_target VARTYPE=1;BGN=0.000865644;ARL=206;DER=42;DEA=60;QR=35;QA=38;PBP=189;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs1208081,g1000:0.5851,esp5400:0.6709,ExAC:0.5570,clinvar:rs1208081,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:103126,GnomAD_AN_exome:167378,GnomAD_AC_genome:19648,GnomAD_AN_genome:30930,GnomAD:0.6191;SGVEP=TMEM237|-|NM_001044385|5|c.274+23A>G|.|intronic GT:DP:AD:DP4 0/1:21:9,12:4,5,7,5 2 202507982 152345201 T C 125 low_coverage;off_target VARTYPE=1;BGN=0.00263583;ARL=234;DER=72;DEA=41;QR=33;QA=32;PBP=62;PBM=67;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6723016,g1000:0.5210,GnomAD_AC_genome:15574,GnomAD_AN_genome:30670,GnomAD:0.5078;SGVEP=TMEM237|-|NM_001044385|1|c.42+100A>G|.|intronic GT:DP:AD:DP4 0/1:12:6,6:4,2,3,3 2 202566741 152348654 T C 387 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=250;DEA=37;QA=37;PBP=179;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs7603563,g1000:0.9056,GnomAD_AC_genome:27630,GnomAD_AN_genome:30720,GnomAD:0.8994;SGVEP=ALS2|-|NM_020919|34|c.4936-129A>G|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 2 202569992 152348847 A T 804 off_target VARTYPE=1;BGN=0.00104216;ARL=239;DEA=102;QA=37;PBP=387;PBM=417;TYPE=SNP;DBXREF=dbSNP:rs3219171,g1000:0.9060,esp5400:0.8970,GnomAD_AC_genome:27840,GnomAD_AN_genome:30958,GnomAD:0.8993;SGVEP=ALS2|-|NM_020919|31|c.4627-69T>A|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,13,14 2 202570232 152348872 A G 596 off_target VARTYPE=1;BGN=0.00104216;ARL=217;DEA=41;QA=37;PBP=298;PBM=298;TYPE=SNP;DBXREF=dbSNP:rs3219170,g1000:0.9060,esp5400:0.8905,ExAC:0.9220,clinvar:rs3219170,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:219245,GnomAD_AN_exome:237494,GnomAD_AC_genome:27817,GnomAD_AN_genome:30940,GnomAD:0.9204;SGVEP=ALS2|-|NM_020919|30|c.4581-48T>C|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 2 202574825 152349167 C T 856 off_target VARTYPE=1;BGN=0.000865644;ARL=252;DEA=41;QA=38;PBP=398;PBM=459;TYPE=SNP;DBXREF=dbSNP:rs1210940,g1000:0.9782,GnomAD_AC_genome:30376,GnomAD_AN_genome:30972,GnomAD:0.9808;SGVEP=ALS2|-|NM_020919|27|c.4123-64G>A|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,13,15 2 202575821 152349223 G A 1663 PASS VARTYPE=1;BGN=0.00104216;ARL=220;DEA=66;QA=37;PBP=833;PBM=833;TYPE=SNP;DBXREF=dbSNP:rs3219168,g1000:0.9054,esp5400:0.8896,ExAC:0.9230,clinvar:rs3219168,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:226622,GnomAD_AN_exome:245502,GnomAD_AC_genome:27809,GnomAD_AN_genome:30938,GnomAD:0.9204;SGVEP=ALS2|-|NM_020919|26|c.4015C>T|p.(Leu1339:)|synonymous GT:DP:AD:DP4 1/1:56:0,56:0,0,28,28 2 202575907 152349237 A G 417 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=241;DEA=45;QA=37;PBP=209;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs2882231,g1000:0.5062,GnomAD_AC_genome:18566,GnomAD_AN_genome:30910,GnomAD:0.6006;SGVEP=ALS2|-|NM_020919|26|c.4005-76T>C|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 202580268 152349443 T C 423 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=259;DEA=36;QA=35;PBP=226;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs10469756,g1000:0.9054,GnomAD_AC_genome:27841,GnomAD_AN_genome:30972,GnomAD:0.8989;SGVEP=ALS2|-|NM_020919|25|c.4004+127A>G|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 2 202580370 152349455 G A 1456 off_target VARTYPE=1;BGN=0.00104216;ARL=234;DEA=73;QA=37;PBP=744;PBM=714;TYPE=SNP;DBXREF=dbSNP:rs3219167,g1000:0.8041,esp5400:0.8241,ExAC:0.8300,clinvar:rs3219167,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:202532,GnomAD_AN_exome:243486,GnomAD_AC_genome:25246,GnomAD_AN_genome:30944,GnomAD:0.8300;SGVEP=ALS2|-|NM_020919|25|c.4004+25C>T|.|intronic GT:DP:AD:DP4 1/1:49:0,49:0,0,25,24 2 202598113 152350721 C T 2434 PASS VARTYPE=1;BGN=0.000865644;ARL=206;DEA=75;QA=38;PBP=1221;PBM=1221;TYPE=SNP;DBXREF=dbSNP:rs2276615,g1000:0.3724,esp5400:0.4662,ExAC:0.5270,clinvar:rs2276615,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:132492,GnomAD_AN_exome:245650,GnomAD_AC_genome:14377,GnomAD_AN_genome:30892,GnomAD:0.5311;SGVEP=ALS2|-|NM_020919|13|c.2466G>A|p.(Val822:)|synonymous GT:DP:AD:DP4 1/1:80:0,80:0,0,40,40 2 202606639 152351182 G A 1367 off_target VARTYPE=1;BGN=0.00104216;ARL=258;DEA=53;QA=37;PBP=685;PBM=685;TYPE=SNP;DBXREF=dbSNP:rs3731703,g1000:0.4341,GnomAD_AC_genome:16833,GnomAD_AN_genome:30920,GnomAD:0.5444;SGVEP=ALS2|-|NM_020919|11|c.2171-62C>T|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,23,23 2 202608877 152351276 C A 417 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=250;DEA=31;QA=37;PBP=209;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs4673207,g1000:0.4599,GnomAD_AC_genome:18201,GnomAD_AN_genome:30864,GnomAD:0.5897;SGVEP=ALS2|-|NM_020919|10|c.2170+104G>T|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 202625615 152352338 C T 1959 PASS VARTYPE=1;BGN=0.00104216;ARL=220;DEA=96;QA=37;PBP=1011;PBM=952;TYPE=SNP;DBXREF=dbSNP:rs3219156,g1000:0.8966,esp5400:0.8587,ExAC:0.9100,PhyloP:-1.8030,SIFT:0.8280,PolyPhen2:0.0090,PolyPhen2_HumDiv:0.0060,LRT:0.1670,MutationTaster:0.0000,GERP:-3.7800,clinvar:rs3219156,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:224413,GnomAD_AN_exome:245810,GnomAD_AC_genome:26910,GnomAD_AN_genome:30962,GnomAD:0.9081;SGVEP=ALS2|-|NM_001135745|4|c.1102G>A|p.(Val368Met)|missense GT:DP:AD:DP4 1/1:66:0,66:0,0,34,32 2 204732850 152457880 A G 1100 off_target VARTYPE=1;BGN=0.00125468;ARL=236;DER=52;DEA=33;QR=11;QA=36;PBP=551;PBM=551;TYPE=SNP;DBXREF=dbSNP:rs231776,g1000:0.9906,GnomAD_AC_genome:30661,GnomAD_AN_genome:30982,GnomAD:0.9896;SGVEP=CTLA4|+|NM_001037631|1|c.109+76A>G|.|intronic GT:DP:AD:DP4 1/1:38:0,38:0,0,19,19 2 204824178 152462431 AGT A 245 off_target VARTYPE=1;BGN=0.000865644;ARL=255;DER=52;DEA=23;QR=31;QA=65;PBP=122;PBM=129;TYPE=INDEL;DBXREF=dbSNP:rs879167520,GnomAD_AC_genome:8167,GnomAD_AN_genome:29636,GnomAD:0.2756;SGVEP=ICOS|+|NM_012092|5|c.587-109_587-108del|.|intronic GT:DP:AD:DP4 0/1:23:9,10:6,3,5,5 2 204824283 152462444 T G 687 off_target VARTYPE=1;BGN=0.00104216;ARL=221;DER=60;DEA=87;QR=37;QA=37;PBP=359;PBM=337;TYPE=SNP;DBXREF=dbSNP:rs10172036,g1000:0.5154,esp5400:0.5949,ExAC:0.5730,GnomAD_AC_exome:140595,GnomAD_AN_exome:245584,GnomAD_AC_genome:17695,GnomAD_AN_genome:30822,GnomAD:0.5727;SGVEP=ICOS|+|NM_012092|5|c.587-26T>G|.|intronic GT:DP:AD:DP4 0/1:87:56,31:29,27,16,15 2 205829991 152513316 C T 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=215;DEA=80;QA=37;PBP=1693;PBM=1693;TYPE=SNP;DBXREF=dbSNP:rs236843,g1000:0.8037,esp5400:0.6713,ExAC:0.6610,GnomAD_AC_exome:162376,GnomAD_AN_exome:245684,GnomAD_AC_genome:20728,GnomAD_AN_genome:30898,GnomAD:0.6620;SGVEP=PARD3B|+|NM_001302769|3|c.339C>T|p.(Ala113:)|synonymous GT:DP:AD:DP4 1/1:114:0,114:0,0,57,57 2 205912210 152517432 C A 510 off_target VARTYPE=1;BGN=0.00125468;ARL=266;DER=49;DEA=55;QR=38;QA=36;PBP=283;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs7563474,g1000:0.6212,GnomAD_AC_genome:20994,GnomAD_AN_genome:30912,GnomAD:0.6792;SGVEP=PARD3B|+|NM_001302769|4|c.395-94C>A|.|intronic GT:DP:AD:DP4 0/1:29:9,20:5,4,11,9 2 206036918 152524111 C T 795 off_target VARTYPE=1;BGN=0.000865644;ARL=225;DEA=71;QA=38;PBP=428;PBM=367;TYPE=SNP;DBXREF=dbSNP:rs736320,g1000:0.7107,esp5400:0.7810,ExAC:0.7230,GnomAD_AC_exome:175464,GnomAD_AN_exome:245218,GnomAD_AC_genome:23418,GnomAD_AN_genome:30928,GnomAD:0.7202;SGVEP=PARD3B|+|NM_001302769|12|c.1621-17C>T|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,14,12 2 206364737 152541321 T C 851 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DER=74;DEA=87;QR=37;QA=37;PBP=431;PBM=429;TYPE=SNP;DBXREF=dbSNP:rs10197347,g1000:0.4485,esp5400:0.3786,ExAC:0.4420,GnomAD_AC_exome:111031,GnomAD_AN_exome:245430,GnomAD_AC_genome:13072,GnomAD_AN_genome:30916,GnomAD:0.4491;SGVEP=PARD3B|+|NM_001302769|21|c.3162T>C|p.(Ser1054:)|synonymous GT:DP:AD:DP4 0/1:101:63,38:31,32,19,19 2 206364791 152541338 C G 913 off_target VARTYPE=1;BGN=0.00104216;ARL=239;DER=80;DEA=39;QR=37;QA=37;PBP=461;PBM=461;TYPE=SNP;DBXREF=dbSNP:rs11683289,g1000:0.3882,esp5400:0.4797,ExAC:0.4780,GnomAD_AC_exome:115552,GnomAD_AN_exome:242880,GnomAD_AC_genome:13712,GnomAD_AN_genome:30898,GnomAD:0.4721;SGVEP=PARD3B|+|NM_001302769|21|c.3180+36C>G|.|intronic GT:DP:AD:DP4 0/1:58:22,36:11,11,18,18 2 206418032 152544192 G A 833 off_target VARTYPE=1;BGN=0.00104216;ARL=214;DER=18;DEA=46;QR=11;QA=37;PBP=477;PBM=358;TYPE=SNP;DBXREF=dbSNP:rs6730102,g1000:0.9425,esp5400:0.9375,ExAC:0.9820,GnomAD_AC_exome:241821,GnomAD_AN_exome:245328,GnomAD_AC_genome:29214,GnomAD_AN_genome:30960,GnomAD:0.9810;SGVEP=PARD3B|+|NM_001302769|22|c.3181-16G>A|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,16,12 2 206562250 152551478 C T 2254 off_target VARTYPE=1;BGN=0.00104216;ARL=211;DEA=50;QA=37;PBP=1100;PBM=1160;TYPE=SNP;DBXREF=dbSNP:rs849558,g1000:0.8914,esp5400:0.9176,ExAC:0.9520,GnomAD_AC_exome:234265,GnomAD_AN_exome:245556,GnomAD_AC_genome:28586,GnomAD_AN_genome:30872,GnomAD:0.9509;SGVEP=NRP2|+|NM_003872|2|c.74-18C>T|.|intronic GT:DP:AD:DP4 1/1:76:0,76:0,0,37,39 2 206581033 152552470 G A 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=215;DER=88;DEA=87;QR=10;QA=37;PBP=1575;PBM=1752;TYPE=SNP;DBXREF=dbSNP:rs849541,g1000:0.9643,esp5400:0.9622,ExAC:0.9890,PhyloP:1.1580,SIFT:0.0000,PolyPhen2:0.0040,PolyPhen2_HumDiv:0.0010,LRT:1.0000,MutationTaster:0.0030,GERP:6.1700,GnomAD_AC_exome:244002,GnomAD_AN_exome:246028,GnomAD_AC_genome:29902,GnomAD_AN_genome:30942,GnomAD:0.9889;SGVEP=NRP2|+|NM_003872|3|c.368G>A|p.(Arg123Lys)|missense GT:DP:AD:DP4 1/1:112:0,112:0,0,53,59 2 206590686 152553054 T C 567 PASS VARTYPE=1;BGN=0.00104216;ARL=225;DER=98;DEA=90;QR=37;QA=37;PBP=288;PBM=287;TYPE=SNP;DBXREF=dbSNP:rs2228639,g1000:0.0397,esp5400:0.0786,ExAC:0.0680,GnomAD_AC_exome:17052,GnomAD_AN_exome:246228,GnomAD_AC_genome:2476,GnomAD_AN_genome:30934,GnomAD:0.0705;SGVEP=NRP2|+|NM_003872|6|c.870T>C|p.(Asn290:)|synonymous GT:DP:AD:DP4 0/1:79:53,26:26,27,13,13 2 206592525 152553159 A G 240 off_target VARTYPE=1;BGN=0.00104216;ARL=248;DER=34;DEA=18;QR=37;QA=37;PBP=147;PBM=98;SP=0;TYPE=SNP;DBXREF=dbSNP:rs849527,g1000:0.5152,GnomAD_AC_genome:13957,GnomAD_AN_genome:30892,GnomAD:0.4518;SGVEP=NRP2|+|NM_003872|7|c.991-90A>G|.|intronic GT:DP:AD:DP4 0/1:22:12,10:7,5,6,4 2 206592695 152553199 T C 695 PASS VARTYPE=1;BGN=0.00125468;ARL=208;DER=85;DEA=88;QR=36;QA=36;PBP=327;PBM=377;TYPE=SNP;DBXREF=dbSNP:rs849526,g1000:0.5176,esp5400:0.4074,ExAC:0.5690,GnomAD_AC_exome:142771,GnomAD_AN_exome:245882,GnomAD_AC_genome:13965,GnomAD_AN_genome:30920,GnomAD:0.5662;SGVEP=NRP2|+|NM_003872|7|c.1071T>C|p.(Tyr357:)|synonymous GT:DP:AD:DP4 0/1:84:52,32:26,26,15,17 2 206608039 152554004 T C 10000 PASS VARTYPE=1;BGN=0.00125468;ARL=224;DER=34;DEA=106;QR=33;QA=36;PBP=2033;PBM=1931;TYPE=SNP;DBXREF=dbSNP:rs849568,g1000:0.9647,esp5400:0.9554,ExAC:0.9800,GnomAD_AC_exome:241553,GnomAD_AN_exome:246026,GnomAD_AC_genome:29836,GnomAD_AN_genome:30960,GnomAD:0.9798;SGVEP=NRP2|+|NM_003872|9|c.1404T>C|p.(Val468:)|synonymous GT:DP:AD:DP4 1/1:142:3,139:1,2,71,68 2 206614646 152554516 T G 261 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=240;DEA=22;QA=36;PBP=116;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs10932123,g1000:0.5487,GnomAD_AC_genome:19175,GnomAD_AN_genome:30848,GnomAD:0.6216;SGVEP=NRP2|+|NM_003872|11|c.1903+81T>G|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,4,5 2 206631618 152555500 C A 252 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=236;DER=16;DEA=46;QR=37;QA=35;PBP=101;PBM=155;TYPE=SNP;DBXREF=dbSNP:rs13001214,g1000:0.0070,esp5400:0.0215,GnomAD_AC_genome:481,GnomAD_AN_genome:30830,GnomAD:0.0156;SGVEP=NRP2|+|NM_003872|15|c.2425+91C>A|.|intronic GT:DP:AD:DP4 0/1:14:4,10:2,2,4,6 2 206659474 152557001 G A 859 PASS VARTYPE=1;BGN=0.00125468;ARL=227;DER=58;DEA=52;QR=36;QA=36;PBP=448;PBM=419;TYPE=SNP;DBXREF=dbSNP:rs36087789,g1000:0.0074,esp5400:0.0189,ExAC:0.0170,PhyloP:-1.5740,SIFT:0.6240,MutationTaster:0.0000,GERP:-8.9800,GnomAD_AC_exome:4288,GnomAD_AN_exome:245798,GnomAD_AC_genome:491,GnomAD_AN_genome:30972,GnomAD:0.0173;SGVEP=NRP2|+|NM_003872|17|c.2477-4G>A|.|intronic GT:DP:AD:DP4 0/1:74:37,37:18,19,19,18 2 206995010 152574582 A G 511 off_target VARTYPE=1;BGN=0.00104216;ARL=239;DER=54;DEA=63;QR=38;QA=37;PBP=235;PBM=283;TYPE=SNP;DBXREF=dbSNP:rs4147725,g1000:0.3079,esp5400:0.3588,ExAC:0.3040,GnomAD_AC_exome:73268,GnomAD_AN_exome:240930,GnomAD_AC_genome:10418,GnomAD_AN_genome:30952,GnomAD:0.3078;SGVEP=NDUFS1|-|NM_001199981|14|c.1446-44T>C|.|intronic GT:DP:AD:DP4 0/1:52:30,22:14,16,10,12 2 207006676 140160 T C 475 PASS VARTYPE=1;BGN=0.000865644;ARL=219;DER=72;DEA=53;QR=34;QA=38;PBP=241;PBM=241;TYPE=SNP;DBXREF=dbSNP:rs1801318,g1000:0.3099,esp5400:0.3648,ExAC:0.3100,clinvar:rs1801318,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:75510,GnomAD_AN_exome:246084,GnomAD_AC_genome:10522,GnomAD_AN_genome:30904,GnomAD:0.3106;SGVEP=NDUFS1|-|NM_001199981|11|c.1143A>G|p.(Arg381:)|synonymous GT:DP:AD:DP4 0/1:50:30,20:15,15,10,10 2 207006825 152575316 C A 573 off_target VARTYPE=1;BGN=0.000865644;ARL=227;DER=52;DEA=48;QR=37;QA=38;PBP=288;PBM=292;TYPE=SNP;DBXREF=dbSNP:rs4147718,g1000:0.3806,esp5400:0.4351,ExAC:0.3910,GnomAD_AC_exome:95386,GnomAD_AN_exome:237478,GnomAD_AC_genome:13041,GnomAD_AN_genome:30880,GnomAD:0.4040;SGVEP=NDUFS1|-|NM_001199981|11|c.1026-32G>T|.|intronic GT:DP:AD:DP4 0/1:37:15,22:8,7,11,11 2 207008675 152575463 C CT 145 low_coverage;off_target VARTYPE=1;BGN=0.00181855;ARL=276;DER=77;DEA=49;QR=35;QA=34;PBP=86;PBM=63;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs35409448,g1000:0.4928,GnomAD_AC_genome:16103,GnomAD_AN_genome:30862,GnomAD:0.5218;SGVEP=NDUFS1|-|NM_001199981|9|c.879+66_879+67insA|.|intronic GT:DP:AD:DP4 0/1:19:12,7:6,6,4,3 2 207008763 140165 C A 434 PASS VARTYPE=1;BGN=0.00104216;ARL=226;DER=82;DEA=90;QR=35;QA=37;PBP=222;PBM=220;TYPE=SNP;DBXREF=dbSNP:rs1127566,g1000:0.4623,esp5400:0.5136,ExAC:0.4540,clinvar:rs1127566,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:111937,GnomAD_AN_exome:246152,GnomAD_AC_genome:15383,GnomAD_AN_genome:30914,GnomAD:0.4595;SGVEP=NDUFS1|-|NM_001199981|9|c.858G>T|p.(Ala286:)|synonymous GT:DP:AD:DP4 0/1:63:43,20:21,22,10,10 2 207041053 152577793 T C 1312 PASS VARTYPE=1;BGN=0.00104216;ARL=220;DER=92;DEA=97;QR=36;QA=37;PBP=714;PBM=611;TYPE=SNP;DBXREF=dbSNP:rs3732083,g1000:0.4625,esp5400:0.5149,ExAC:0.4580,PhyloP:2.1770,SIFT:0.6650,PolyPhen2:0.0110,PolyPhen2_HumDiv:0.0800,LRT:1.0000,MutationTaster:0.9850,GERP:5.7000,GnomAD_AC_exome:113155,GnomAD_AN_exome:246220,GnomAD_AC_genome:15459,GnomAD_AN_genome:30868,GnomAD:0.4642;SGVEP=GPR1|-|NM_001098199|3|c.919A>G|p.(Ile307Val)|missense GT:DP:AD:DP4 0/1:121:65,56:33,32,30,26 2 207041441 152577866 G A 1145 PASS VARTYPE=1;BGN=0.00104216;ARL=218;DER=98;DEA=94;QR=36;QA=37;PBP=595;PBM=561;TYPE=SNP;DBXREF=dbSNP:rs3732082,g1000:0.3452,esp5400:0.3825,ExAC:0.3500,GnomAD_AC_exome:85393,GnomAD_AN_exome:246152,GnomAD_AC_genome:11545,GnomAD_AN_genome:30916,GnomAD:0.3499;SGVEP=GPR1|-|NM_001098199|3|c.531C>T|p.(Asp177:)|synonymous GT:DP:AD:DP4 0/1:108:59,49:28,31,25,24 2 207653653 152610051 G A 475 off_target VARTYPE=1;BGN=0.000865644;ARL=204;DER=12;DEA=78;QR=37;QA=38;PBP=242;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs76270461,g1000:0.1220,esp5400:0.0813,ExAC:0.1110,GnomAD_AC_exome:26881,GnomAD_AN_exome:243278,GnomAD_AC_genome:2941,GnomAD_AN_genome:30898,GnomAD:0.1088;SGVEP=FASTKD2|+|NM_001136193|10|c.1898+26G>A|.|intronic GT:DP:AD:DP4 0/1:29:11,18:5,6,9,9 2 208442095 152648576 G A 214 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=287;DER=38;DEA=55;QR=38;QA=38;PBP=107;PBM=111;TYPE=SNP;DBXREF=dbSNP:rs2709387,g1000:0.1092,GnomAD_AC_genome:5294,GnomAD_AN_genome:30934,GnomAD:0.1711;SGVEP=CREB1|+|NM_004379|7|c.689-134G>A|.|intronic GT:DP:AD:DP4 0/1:13:5,8:3,2,4,4 2 208986385 152676186 A G 1308 off_target VARTYPE=1;BGN=0.00104216;ARL=239;DEA=59;QA=37;PBP=685;PBM=625;TYPE=SNP;DBXREF=dbSNP:rs2305429,g1000:0.8117,esp5400:0.9387,ExAC:0.8790,clinvar:rs2305429,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:214686,GnomAD_AN_exome:244670,GnomAD_AC_genome:28523,GnomAD_AN_genome:30958,GnomAD:0.8824;SGVEP=CRYGD|-|NM_006891|3|c.*12T>C|.|3'UTR GT:DP:AD:DP4 1/1:44:0,44:0,0,23,21 2 208986637 152676242 T C 1041 PASS VARTYPE=1;BGN=0.00104216;ARL=214;DEA=68;QA=37;PBP=566;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs2305430,g1000:0.7768,esp5400:0.8942,ExAC:0.8500,clinvar:rs2305430,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:208504,GnomAD_AN_exome:245862,GnomAD_AC_genome:27326,GnomAD_AN_genome:30948,GnomAD:0.8520;SGVEP=CRYGD|-|NM_006891|3|c.285A>G|p.(Arg95:)|synonymous GT:DP:AD:DP4 1/1:35:0,35:0,0,19,16 2 208989037 152676401 A G 3225 PASS VARTYPE=1;BGN=0.00104216;ARL=211;DER=86;DEA=68;QR=36;QA=37;PBP=1598;PBM=1656;TYPE=SNP;DBXREF=dbSNP:rs2242074,g1000:0.6448,esp5400:0.5772,ExAC:0.5740,clinvar:rs2242074,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:135650,GnomAD_AN_exome:232386,GnomAD_AC_genome:18157,GnomAD_AN_genome:30866,GnomAD:0.5843;SGVEP=CRYGD|-|NM_006891|2|c.51T>C|p.(Tyr17:)|synonymous GT:DP:AD:DP4 0/1:288:150,138:76,74,68,70 2 209007559 152677750 T G 1107 PASS VARTYPE=1;BGN=0.00104216;ARL=220;DER=101;DEA=96;QR=37;QA=37;PBP=559;PBM=559;TYPE=SNP;DBXREF=dbSNP:rs796287,g1000:0.6446,esp5400:0.7158,ExAC:0.6880,PhyloP:-0.2470,SIFT:0.9200,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9840,MutationTaster:0.0000,GERP:0.4680,GnomAD_AC_exome:167929,GnomAD_AN_exome:245314,GnomAD_AC_genome:21835,GnomAD_AN_genome:30910,GnomAD:0.6870;SGVEP=CRYGB|-|NM_005210|3|c.331A>C|p.(Ile111Leu)|missense GT:DP:AD:DP4 0/1:90:44,46:22,22,23,23 2 209010558 152677997 A G 1081 PASS VARTYPE=1;BGN=0.00104216;ARL=197;DER=65;DEA=46;QR=37;QA=37;PBP=538;PBM=553;TYPE=SNP;DBXREF=dbSNP:rs2854723,g1000:0.4020,esp5400:0.4982,ExAC:0.4800,GnomAD_AC_exome:116950,GnomAD_AN_exome:245948,GnomAD_AC_genome:14813,GnomAD_AN_genome:30814,GnomAD:0.4761;SGVEP=CRYGB|-|NM_005210|2|c.192T>C|p.(Pro64:)|synonymous GT:DP:AD:DP4 0/1:89:44,45:20,24,22,23 2 209010891 152678095 G A 828 off_target VARTYPE=1;BGN=0.00104216;ARL=216;DER=55;DEA=77;QR=37;QA=37;PBP=418;PBM=418;TYPE=SNP;DBXREF=dbSNP:rs2289917,g1000:0.2272,esp5400:0.3152,ExAC:0.3250,GnomAD_AC_exome:79008,GnomAD_AN_exome:242520,GnomAD_AC_genome:9184,GnomAD_AN_genome:30878,GnomAD:0.3226;SGVEP=CRYGB|-|NM_005210|1|.|.|intergenic GT:DP:AD:DP4 0/1:86:50,36:25,25,18,18 2 209028191 152679283 C T 1384 off_target VARTYPE=1;BGN=0.00125468;ARL=235;DER=83;DEA=91;QR=35;QA=36;PBP=629;PBM=767;TYPE=SNP;DBXREF=dbSNP:rs796280,g1000:0.2941,esp5400:0.1735,ExAC:0.2500,GnomAD_AC_exome:63205,GnomAD_AN_exome:246086,GnomAD_AC_genome:6512,GnomAD_AN_genome:30638,GnomAD:0.2519;SGVEP=CRYGA|-|NM_014617|2|c.10-21G>A|.|intronic GT:DP:AD:DP4 0/1:111:52,59:27,25,27,32 2 209101905 152683690 GAAAAAAAAAA GAAAAAAAAA 266 homopolymer_region;off_target VARTYPE=1;BGN=0.191075;ARL=231;DER=23;DEA=80;QR=37;QA=39;HL=10;PBP=124;PBM=151;TYPE=INDEL;DBXREF=dbSNP:rs796498057,g1000:0.9826,ExAC:0.9760,GnomAD_AC_exome:213521,GnomAD_AN_exome:214882,GnomAD_AC_genome:30345,GnomAD_AN_genome:30774,GnomAD:0.9927;SGVEP=IDH1|-|NM_001282386|10|c.1155-13del|.|intronic GT:DP:AD:DP4 1/1:56:9,47:5,4,22,25 2 209163556 152687172 C T 655 off_target VARTYPE=1;BGN=0.00104216;ARL=260;DEA=56;QA=37;PBP=268;PBM=387;TYPE=SNP;DBXREF=dbSNP:rs7569723,g1000:0.9115,GnomAD_AC_genome:28825,GnomAD_AN_genome:30948,GnomAD:0.9314;SGVEP=PIKFYVE|+|NM_001178000|8|c.1050+53C>T|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,9,13 2 209168853 152687492 C T 804 off_target VARTYPE=1;BGN=0.00104216;ARL=266;DEA=75;QA=37;PBP=417;PBM=387;TYPE=SNP;DBXREF=dbSNP:rs893256,g1000:0.9107,esp5400:0.9189,ExAC:0.9590,GnomAD_AC_exome:236927,GnomAD_AN_exome:245616,GnomAD_AC_genome:28782,GnomAD_AN_genome:30948,GnomAD:0.9608;SGVEP=PIKFYVE|+|NM_001178000|11|c.1321-42C>T|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,14,13 2 209184999 152688467 C T 306 low_coverage VARTYPE=1;BGN=0.000865644;ARL=245;DEA=28;QA=38;PBP=153;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs10932259,g1000:0.9115,esp5400:0.9194,ExAC:0.9600,clinvar:rs10932259,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:236337,GnomAD_AN_exome:244942,GnomAD_AC_genome:28809,GnomAD_AN_genome:30938,GnomAD:0.9611;SGVEP=PIKFYVE|+|NM_015040|17|c.2106C>T|p.(Pro702:)|synonymous GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 209189912 152688811 A G 338 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=243;DEA=106;QA=35;PBP=169;PBM=169;TYPE=SNP;DBXREF=dbSNP:rs893255,g1000:0.9113,GnomAD_AC_genome:28832,GnomAD_AN_genome:30970,GnomAD:0.9310;SGVEP=PIKFYVE|+|NM_015040|20|c.2459-82A>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 209190330 152688888 T C 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=227;DER=8;DEA=111;QR=12;QA=37;PBP=1959;PBM=1930;TYPE=SNP;DBXREF=dbSNP:rs2363468,g1000:0.9117,esp5400:0.9200,ExAC:0.9600,PhyloP:1.5980,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9110,MutationTaster:1.0000,GERP:5.1900,clinvar:rs2363468,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:237120,GnomAD_AN_exome:245802,GnomAD_AC_genome:28795,GnomAD_AN_genome:30932,GnomAD:0.9609;SGVEP=PIKFYVE|+|NM_015040|20|c.2795T>C|p.(Leu932Ser)|missense GT:DP:AD:DP4 1/1:131:0,131:0,0,66,65 2 209190519 152688940 A T 1752 PASS VARTYPE=1;BGN=0.00104216;ARL=234;DEA=85;QA=37;PBP=893;PBM=863;TYPE=SNP;DBXREF=dbSNP:rs893254,g1000:0.9115,esp5400:0.9199,ExAC:0.9600,PhyloP:1.1010,SIFT:0.9040,PolyPhen2:0.0140,PolyPhen2_HumDiv:0.0110,LRT:0.9940,MutationTaster:1.0000,GERP:4.2400,clinvar:rs893254,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:236931,GnomAD_AN_exome:245562,GnomAD_AC_genome:28714,GnomAD_AN_genome:30860,GnomAD:0.9610;SGVEP=PIKFYVE|+|NM_015040|20|c.2984A>T|p.(Gln995Leu)|missense GT:DP:AD:DP4 1/1:59:0,59:0,0,30,29 2 209190528 152688942 C G 1693 PASS VARTYPE=1;BGN=0.00104216;ARL=235;DEA=83;QA=37;PBP=833;PBM=863;TYPE=SNP;DBXREF=dbSNP:rs893253,g1000:0.9121,esp5400:0.9209,ExAC:0.9600,PhyloP:-0.2780,SIFT:0.2590,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0390,LRT:0.0150,MutationTaster:0.0000,GERP:-1.7500,clinvar:rs893253,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:237024,GnomAD_AN_exome:245592,GnomAD_AC_genome:28736,GnomAD_AN_genome:30864,GnomAD:0.9613;SGVEP=PIKFYVE|+|NM_015040|20|c.2993C>G|p.(Thr998Ser)|missense GT:DP:AD:DP4 1/1:57:0,57:0,0,28,29 2 209191082 152689039 C A 1486 PASS VARTYPE=1;BGN=0.00104216;ARL=230;DEA=76;QA=37;PBP=714;PBM=774;TYPE=SNP;DBXREF=dbSNP:rs1529979,g1000:0.9115,esp5400:0.9199,ExAC:0.9600,PhyloP:1.0390,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.9430,GERP:4.6500,clinvar:rs1529979,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:236524,GnomAD_AN_exome:245142,GnomAD_AC_genome:28832,GnomAD_AN_genome:30968,GnomAD:0.9611;SGVEP=PIKFYVE|+|NM_015040|20|c.3547C>A|p.(Gln1183Lys)|missense GT:DP:AD:DP4 1/1:50:0,50:0,0,24,26 2 209191099 152689042 T C 1100 PASS VARTYPE=1;BGN=0.00104216;ARL=241;DEA=80;QA=37;PBP=536;PBM=566;TYPE=SNP;DBXREF=dbSNP:rs1529978,g1000:0.9960,esp5400:0.9948,ExAC:0.9980,clinvar:rs1529978,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:245094,GnomAD_AN_exome:245380,GnomAD_AC_genome:30843,GnomAD_AN_genome:30978,GnomAD:0.9985;SGVEP=PIKFYVE|+|NM_015040|20|c.3564T>C|p.(Asn1188:)|synonymous GT:DP:AD:DP4 1/1:37:0,37:0,0,18,19 2 209194696 152689301 G C 290 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=231;DEA=29;QA=36;PBP=145;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs1437414,g1000:0.9121,esp5400:0.9442,GnomAD_AC_genome:28833,GnomAD_AN_genome:30948,GnomAD:0.9317;SGVEP=PIKFYVE|+|NM_015040|22|c.3791+59G>C|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 209195491 152689383 G GAGA 388 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=249;DER=25;DEA=63;QR=33;QA=103;PBP=193;PBM=199;TYPE=INDEL;DBXREF=dbSNP:rs112938452,g1000:0.9113,GnomAD_AC_genome:26283,GnomAD_AN_genome:28304,GnomAD:0.9286;SGVEP=PIKFYVE|+|NM_015040|23|c.3963+75_3963+76insAAG|.|intronic GT:DP:AD:DP4 0/1:19:4,14:2,2,7,7 2 209204714 152690059 G A 670 off_target VARTYPE=1;BGN=0.000865644;ARL=230;DER=72;DEA=88;QR=38;QA=38;PBP=339;PBM=339;TYPE=SNP;DBXREF=dbSNP:rs2289171,g1000:0.3123,esp5400:0.3061,ExAC:0.3830,GnomAD_AC_exome:97137,GnomAD_AN_exome:245018,GnomAD_AC_genome:10551,GnomAD_AN_genome:30904,GnomAD:0.3903;SGVEP=PIKFYVE|+|NM_015040|31|c.4811-21G>A|.|intronic GT:DP:AD:DP4 0/1:66:38,28:19,19,14,14 2 209209827 152690362 G A 596 off_target VARTYPE=1;BGN=0.00104216;ARL=216;DEA=45;QA=37;PBP=298;PBM=298;TYPE=SNP;DBXREF=dbSNP:rs2304544,g1000:0.9109,esp5400:0.9188,ExAC:0.9590,clinvar:rs2304544,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:237247,GnomAD_AN_exome:245888,GnomAD_AC_genome:28795,GnomAD_AN_genome:30952,GnomAD:0.9610;SGVEP=PIKFYVE|+|NM_015040|33|c.5028-8G>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 2 209209997 152690383 C T 328 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=245;DEA=31;QA=37;PBP=149;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs2043718,g1000:0.9918,GnomAD_AC_genome:30743,GnomAD_AN_genome:30954,GnomAD:0.9932;SGVEP=PIKFYVE|+|NM_015040|33|c.5111+79C>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 2 209212707 152690548 G A 1782 PASS VARTYPE=1;BGN=0.00104216;ARL=235;DEA=84;QA=37;PBP=863;PBM=922;TYPE=SNP;DBXREF=dbSNP:rs2304545,g1000:0.7161,esp5400:0.6783,ExAC:0.8100,clinvar:rs2304545,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:202880,GnomAD_AN_exome:246232,GnomAD_AC_genome:22245,GnomAD_AN_genome:30930,GnomAD:0.8123;SGVEP=PIKFYVE|+|NM_015040|35|c.5334G>A|p.(Thr1778:)|synonymous GT:DP:AD:DP4 1/1:60:0,60:0,0,29,31 2 209214770 152690670 A G 489 low_coverage VARTYPE=1;BGN=0.000865644;ARL=212;DEA=101;QA=38;PBP=245;PBM=245;TYPE=SNP;DBXREF=dbSNP:rs2118297,g1000:0.9111,esp5400:0.9192,ExAC:0.9600,clinvar:rs2118297,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:236939,GnomAD_AN_exome:245580,GnomAD_AC_genome:28764,GnomAD_AN_genome:30912,GnomAD:0.9610;SGVEP=PIKFYVE|+|NM_015040|36|c.5397A>G|p.(Thr1799:)|synonymous GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 2 209215448 152690711 A G 655 off_target VARTYPE=1;BGN=0.00104216;ARL=232;DEA=39;QA=37;PBP=328;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs994696,g1000:0.9111,esp5400:0.9198,ExAC:0.9600,GnomAD_AC_exome:235852,GnomAD_AN_exome:244460,GnomAD_AC_genome:28812,GnomAD_AN_genome:30960,GnomAD:0.9609;SGVEP=PIKFYVE|+|NM_015040|37|c.5435-47A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 2 209215586 152690740 A G 2461 PASS VARTYPE=1;BGN=0.00104216;ARL=214;DEA=87;QA=37;PBP=1249;PBM=1219;TYPE=SNP;DBXREF=dbSNP:rs994697,g1000:0.9111,esp5400:0.9192,ExAC:0.9600,clinvar:rs994697,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:237601,GnomAD_AN_exome:246254,GnomAD_AC_genome:28807,GnomAD_AN_genome:30956,GnomAD:0.9610;SGVEP=PIKFYVE|+|NM_015040|37|c.5526A>G|p.(Glu1842:)|synonymous GT:DP:AD:DP4 1/1:83:0,83:0,0,42,41 2 209219190 152691036 A G 275 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=250;DEA=47;QA=38;PBP=153;PBM=122;TYPE=SNP;DBXREF=dbSNP:rs6435453,g1000:0.9117,GnomAD_AC_genome:28809,GnomAD_AN_genome:30958,GnomAD:0.9306;SGVEP=PIKFYVE|+|NM_015040|41|c.6107-105A>G|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,5,4 2 210517785 152756349 C T 489 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=254;DEA=25;QA=38;PBP=275;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs2254169,g1000:0.9994,GnomAD_AC_genome:30975,GnomAD_AN_genome:30984,GnomAD:0.9997;SGVEP=MAP2|+|NM_001039538|5|c.-29-81C>T|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,9,7 2 210594540 152760518 A G 1841 off_target VARTYPE=1;BGN=0.00104216;ARL=248;DEA=58;QA=37;PBP=952;PBM=893;TYPE=SNP;DBXREF=dbSNP:rs4673486,g1000:0.7400,esp5400:0.7484,ExAC:0.8430,GnomAD_AC_exome:204426,GnomAD_AN_exome:239648,GnomAD_AC_genome:23788,GnomAD_AN_genome:30920,GnomAD:0.8435;SGVEP=MAP2|+|NM_001039538|14|c.1352-34A>G|.|intronic GT:DP:AD:DP4 1/1:62:0,62:0,0,32,30 2 210594717 152760548 CTTTTT CTTTTTT 908 off_target VARTYPE=1;BGN=0.0211747;ARL=239;DER=13;DEA=52;QR=35;QA=37;HL=5;PBP=457;PBM=457;TYPE=INDEL;DBXREF=dbSNP:rs375816397,g1000:0.7430,ExAC:0.8440,GnomAD_AC_exome:192650,GnomAD_AN_exome:223510,GnomAD_AC_genome:23833,GnomAD_AN_genome:30246,GnomAD:0.8531;SGVEP=MAP2|+|NM_001039538|14|c.1464+36dupT|.|intronic GT:DP:AD:DP4 1/1:80:16,64:8,8,32,32 2 210594768 152760565 T C 493 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=277;DEA=70;QA=36;PBP=174;PBM=319;TYPE=SNP;DBXREF=dbSNP:rs7594601,g1000:0.8085,GnomAD_AC_genome:26187,GnomAD_AN_genome:30950,GnomAD:0.8461;SGVEP=MAP2|+|NM_001039538|14|c.1464+82T>C|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,6,11 2 210642131 152762747 C A 719 PASS VARTYPE=1;BGN=0.00125468;ARL=234;DER=103;DEA=112;QR=37;QA=36;PBP=363;PBM=365;TYPE=SNP;DBXREF=dbSNP:rs201833017,ExAC:0.0000,PhyloP:2.8940,SIFT:0.9940,PolyPhen2:0.5200,PolyPhen2_HumDiv:0.9020,LRT:1.0000,MutationTaster:1.0000,GERP:6.0800,GnomAD_AC_exome:14,GnomAD_AN_exome:246252,GnomAD:0.0001;SGVEP=UNC80|+|NM_032504|4|c.448C>A|p.(His150Asn)|missense GT:DP:AD:DP4 0/1:99:65,34:33,32,17,17 2 210682485 152764742 A G 476 off_target VARTYPE=1;BGN=0.000865644;ARL=226;DER=43;DEA=68;QR=37;QA=38;PBP=253;PBM=229;TYPE=SNP;DBXREF=dbSNP:rs114681423,g1000:0.0226,esp5400:0.0408,GnomAD_AC_genome:946,GnomAD_AN_genome:30942,GnomAD:0.0306;SGVEP=UNC80|+|NM_032504|11|c.1553-51A>G|.|intronic GT:DP:AD:DP4 0/1:38:19,19:10,9,10,9 2 210707144 152765991 A C 347 PASS VARTYPE=1;BGN=0.00104216;ARL=236;DER=99;DEA=91;QR=37;QA=37;PBP=164;PBM=190;TYPE=SNP;DBXREF=dbSNP:rs78912192,g1000:0.0006,esp5400:0.0012,ExAC:0.0003,PhyloP:1.9400,SIFT:0.9960,PolyPhen2:0.0710,PolyPhen2_HumDiv:0.4470,LRT:1.0000,MutationTaster:1.0000,GERP:5.1800,GnomAD_AC_exome:75,GnomAD_AN_exome:151126,GnomAD_AC_genome:22,GnomAD_AN_genome:30956,GnomAD:0.0005;SGVEP=UNC80|+|NM_032504|21|c.3434A>C|p.(Glu1145Ala)|missense GT:DP:AD:DP4 0/1:37:22,15:11,11,7,8 2 210745681 152767833 C A 1782 PASS VARTYPE=1;BGN=0.00104216;ARL=232;DEA=75;QA=37;PBP=893;PBM=893;TYPE=SNP;DBXREF=dbSNP:rs2370838,g1000:0.9806,esp5400:0.9802,ExAC:0.9760,GnomAD_AC_exome:149823,GnomAD_AN_exome:152308,GnomAD_AC_genome:30447,GnomAD_AN_genome:30984,GnomAD:0.9835;SGVEP=UNC80|+|NM_032504|25|c.3983-4C>A|.|intronic GT:DP:AD:DP4 1/1:60:0,60:0,0,30,30 2 210843383 152772572 G A 981 PASS VARTYPE=1;BGN=0.00104216;ARL=228;DER=87;DEA=89;QR=36;QA=37;PBP=459;PBM=532;TYPE=SNP;DBXREF=dbSNP:rs2075117,g1000:0.6458,esp5400:0.6293,ExAC:0.6280,GnomAD_AC_exome:97947,GnomAD_AN_exome:150416,GnomAD_AC_genome:20122,GnomAD_AN_genome:30906,GnomAD:0.6512;SGVEP=UNC80|+|NM_032504|58|c.8871G>A|p.(Gln2957:)|synonymous GT:DP:AD:DP4 0/1:105:62,43:30,32,20,23 2 210846867 152772746 A G 734 off_target VARTYPE=1;BGN=0.00151053;ARL=247;DER=52;DEA=51;QR=37;QA=35;PBP=380;PBM=362;TYPE=SNP;DBXREF=dbSNP:rs2723222,g1000:0.4559,esp5400:0.4539,ExAC:0.4890,GnomAD_AC_exome:73826,GnomAD_AN_exome:145120,GnomAD_AC_genome:13124,GnomAD_AN_genome:30848,GnomAD:0.4941;SGVEP=UNC80|+|NM_032504|59|c.8921-36A>G|.|intronic GT:DP:AD:DP4 0/1:51:20,31:11,9,16,15 2 211060050 140261 T G 1016 PASS VARTYPE=1;BGN=0.00104216;ARL=215;DER=63;DEA=62;QR=37;QA=37;PBP=473;PBM=553;TYPE=SNP;DBXREF=dbSNP:rs2286963,g1000:0.2111,esp5400:0.2739,ExAC:0.3010,PhyloP:2.2130,SIFT:0.9490,PolyPhen2:0.8410,PolyPhen2_HumDiv:0.9780,LRT:1.0000,MutationTaster:1.0000,GERP:5.7700,clinvar:rs2286963,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:74028,GnomAD_AN_exome:245520,GnomAD_AC_genome:8754,GnomAD_AN_genome:30920,GnomAD:0.2995;SGVEP=ACADL|-|NM_001608|9|c.997A>C|p.(Lys333Gln)|missense GT:DP:AD:DP4 0/1:91:48,43:24,24,20,23 2 211069438 152783633 G A 1011 off_target VARTYPE=1;BGN=0.00104216;ARL=227;DEA=36;QA=37;PBP=506;PBM=506;TYPE=SNP;DBXREF=dbSNP:rs263677,g1000:0.9756,esp5400:0.9799,ExAC:0.9940,GnomAD_AC_exome:244160,GnomAD_AN_exome:245278,GnomAD_AC_genome:30407,GnomAD_AN_genome:30970,GnomAD:0.9939;SGVEP=ACADL|-|NM_001608|7|c.769-32C>T|.|intronic GT:DP:AD:DP4 1/1:34:0,34:0,0,17,17 2 211074909 152783890 T C 209 off_target VARTYPE=1;BGN=0.00125468;ARL=226;DER=60;DEA=78;QR=36;QA=36;PBP=118;PBM=95;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3764913,g1000:0.2117,esp5400:0.2745,ExAC:0.3020,clinvar:rs3764913,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:74394,GnomAD_AN_exome:245894,GnomAD_AC_genome:8808,GnomAD_AN_genome:30920,GnomAD:0.3006;SGVEP=ACADL|-|NM_001608|5|c.603+11A>G|.|intronic GT:DP:AD:DP4 0/1:20:11,9:6,5,5,4 2 211167132 152788281 A T 224 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=258;DER=57;DEA=92;QR=37;QA=37;PBP=128;PBM=101;TYPE=SNP;DBXREF=dbSNP:rs2292300,g1000:0.4367,esp5400:0.3760,GnomAD_AC_genome:12387,GnomAD_AN_genome:30872,GnomAD:0.4012;SGVEP=MYL1|-|NM_079420|2|c.160+80T>A|.|intronic GT:DP:AD:DP4 0/1:17:8,9:4,4,5,4 2 211168181 152788363 T TC 198 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=213;DER=39;DEA=61;QR=38;QA=38;PBP=101;PBM=101;TYPE=INDEL;DBXREF=dbSNP:rs35179660,g1000:0.4373,GnomAD_AC_genome:12340,GnomAD_AN_genome:30850,GnomAD:0.4000;SGVEP=MYL1|-|NM_079420|2|c.133-943_133-942insG|.|intronic GT:DP:AD:DP4 0/1:18:10,8:5,5,4,4 2 211168346 152788389 A C 362 off_target VARTYPE=1;BGN=0.00104216;ARL=200;DER=40;DEA=45;QR=38;QA=37;PBP=171;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs12469767,g1000:0.5417,esp5400:0.4947,GnomAD_AC_genome:15795,GnomAD_AN_genome:30882,GnomAD:0.5115;SGVEP=MYL1|-|NM_079420|2|c.133-1107T>G|.|intronic GT:DP:AD:DP4 0/1:31:16,15:8,8,7,8 2 211342502 140262 G A 694 off_target VARTYPE=1;BGN=0.00104216;ARL=197;DER=84;DEA=91;QR=37;QA=37;PBP=334;PBM=366;TYPE=SNP;DBXREF=dbSNP:rs17552879,g1000:0.4808,esp5400:0.4233,ExAC:0.5050,clinvar:rs17552879,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:125201,GnomAD_AN_exome:244304,GnomAD_AC_genome:13876,GnomAD_AN_genome:30916,GnomAD:0.5053;SGVEP=CPS1|+|NM_001122633|1|c.3+12G>A|.|intronic GT:DP:AD:DP4 0/1:42:15,27:8,7,13,14 2 211421452 140263 A ATCT 977 PASS VARTYPE=1;BGN=0.000865644;ARL=205;DER=48;DEA=50;QR=35;QA=109;PBP=492;PBM=494;TYPE=INDEL;DBXREF=dbSNP:rs61509952,g1000:0.4770,ExAC:0.4350,clinvar:rs61509952,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:107078,GnomAD_AN_exome:244942,GnomAD_AC_genome:13550,GnomAD_AN_genome:30672,GnomAD:0.4377;SGVEP=CPS1|+|NM_001122633|2|c.15_16insTTC|p.(Ile5_Lys6insPhe)|inframe_3 GT:DP:AD:DP4 0/1:85:44,40:23,21,20,20 2 211456637 140269 A G 633 PASS VARTYPE=1;BGN=0.000865644;ARL=219;DER=95;DEA=67;QR=35;QA=38;PBP=306;PBM=335;TYPE=SNP;DBXREF=dbSNP:rs1047883,esp5400:0.5970,ExAC:0.5680,PhyloP:-0.6090,SIFT:0.9360,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0010,LRT:1.0000,MutationTaster:1.0000,GERP:-0.9200,clinvar:rs1047883,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:138701,GnomAD_AN_exome:244398,GnomAD_AC_genome:17669,GnomAD_AN_genome:30628,GnomAD:0.5686;SGVEP=CPS1|+|NM_001122633|11|c.1048A>G|p.(Thr350Ala)|missense GT:DP:AD:DP4 0/1:70:43,27:22,21,13,14 2 211456639 140271 C T 631 PASS VARTYPE=1;BGN=0.000865644;ARL=219;DER=93;DEA=65;QR=34;QA=38;PBP=304;PBM=335;TYPE=SNP;DBXREF=dbSNP:rs2229589,g1000:0.5913,esp5400:0.6027,ExAC:0.5720,clinvar:rs2229589,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:139603,GnomAD_AN_exome:244534,GnomAD_AC_genome:18047,GnomAD_AN_genome:30608,GnomAD:0.5730;SGVEP=CPS1|+|NM_001122633|11|c.1050C>T|p.(Thr350:)|synonymous GT:DP:AD:DP4 0/1:71:44,27:23,21,13,14 2 211481257 140286 C G 1218 PASS VARTYPE=1;BGN=0.00125468;ARL=211;DER=61;DEA=54;QR=37;QA=36;PBP=616;PBM=612;TYPE=SNP;DBXREF=dbSNP:rs2287599,g1000:0.6492,esp5400:0.6665,ExAC:0.5860,clinvar:rs2287599,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:141583,GnomAD_AN_exome:245308,GnomAD_AC_genome:19425,GnomAD_AN_genome:30754,GnomAD:0.5832;SGVEP=CPS1|+|NM_001122633|22|c.2697C>G|p.(Gly899:)|synonymous GT:DP:AD:DP4 0/1:99:47,52:23,24,26,26 2 211513118 152806302 C T 387 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=237;DEA=30;QA=37;PBP=209;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs4673540,g1000:1.0000,GnomAD_AC_genome:30973,GnomAD_AN_genome:30978,GnomAD:0.9998;SGVEP=CPS1|+|NM_001122633|28|c.3355-79C>T|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 2 211515058 152806411 A T 232 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=242;DER=79;DEA=66;QR=37;QA=35;PBP=117;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs3213784,g1000:0.4227,esp5400:0.3553,ExAC:0.4180,clinvar:rs3213784,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:104375,GnomAD_AN_exome:245808,GnomAD_AC_genome:12081,GnomAD_AN_genome:30860,GnomAD:0.4209;SGVEP=CPS1|+|NM_001122633|29|c.3423-29A>T|.|intronic GT:DP:AD:DP4 0/1:19:9,10:5,4,5,5 2 211521227 152806762 CTTTTTTTTTTTTTTT CTTTTTTTTTTTTTT 108 homopolymer_region;off_target VARTYPE=1;BGN=0.689908;ARL=194;DER=63;DEA=45;QR=32;QA=52;HL=15;PBP=63;PBM=47;TYPE=INDEL;DBXREF=dbSNP:rs796104481,g1000:0.8331,ExAC:0.3520,GnomAD_AC_exome:65030,GnomAD_AN_exome:138152,GnomAD_AC_genome:15271,GnomAD_AN_genome:17972,GnomAD:0.5143;SGVEP=CPS1|+|NM_001122633|31|c.3577-7del|.|intronic GT:DP:AD:DP4 0/1:72:16,53:11,5,30,23 2 211523487 152806920 C T 122 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=253;DER=37;DEA=68;QR=38;QA=38;PBP=49;PBM=76;SP=0;TYPE=SNP;DBXREF=dbSNP:rs541617676,g1000:0.0002,GnomAD_AC_genome:7,GnomAD_AN_genome:30964,GnomAD:0.0002;SGVEP=CPS1|+|NM_001122633|32|c.3774+75C>T|.|intronic GT:DP:AD:DP4 0/1:13:8,5:4,4,2,3 2 211533070 152807495 A G 795 off_target VARTYPE=1;BGN=0.000865644;ARL=241;DEA=59;QA=38;PBP=367;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs10932347,g1000:0.9513,GnomAD_AC_genome:29206,GnomAD_AN_genome:30908,GnomAD:0.9449;SGVEP=CPS1|+|NM_001122633|35|c.4119+62A>G|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,12,14 2 211540507 140298 C A 689 PASS VARTYPE=1;BGN=0.00104216;ARL=206;DER=97;DEA=102;QR=37;QA=37;PBP=322;PBM=377;TYPE=SNP;DBXREF=dbSNP:rs1047891,g1000:0.2885,esp5400:0.3293,ExAC:0.3030,PhyloP:1.5800,SIFT:0.8980,PolyPhen2:0.0250,PolyPhen2_HumDiv:0.0090,LRT:0.9980,MutationTaster:0.3610,GERP:5.2000,clinvar:rs1047891,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:74795,GnomAD_AN_exome:245812,GnomAD_AC_genome:10125,GnomAD_AN_genome:30914,GnomAD:0.3069;SGVEP=CPS1|+|NM_001122633|37|c.4235C>A|p.(Thr1412Asn)|missense GT:DP:AD:DP4 0/1:101:69,32:36,33,15,17 2 211542525 152808042 A G 144 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=261;DER=58;DEA=42;QR=32;QA=37;PBP=74;PBM=74;SP=0;TYPE=SNP;DBXREF=dbSNP:rs17832175,g1000:0.0535,GnomAD_AC_genome:2295,GnomAD_AN_genome:30968,GnomAD:0.0741;SGVEP=CPS1|+|NM_001122633|39|c.4423-86A>G|.|intronic GT:DP:AD:DP4 0/1:14:8,6:4,4,3,3 2 212248628 152846309 G A 1125 PASS VARTYPE=1;BGN=0.00104216;ARL=242;DER=119;DEA=110;QR=36;QA=37;PBP=556;PBM=579;TYPE=SNP;DBXREF=dbSNP:rs140175824,esp5400:0.0003,ExAC:0.0004,GnomAD_AC_exome:108,GnomAD_AN_exome:246062,GnomAD_AC_genome:5,GnomAD_AN_genome:30946,GnomAD:0.0004;SGVEP=ERBB4|-|NM_001042599|27|c.3591C>T|p.(Ala1197:)|synonymous GT:DP:AD:DP4 0/1:94:47,47:23,24,23,24 2 212295590 152848966 GTTT GTTTT 103 low_coverage;off_target VARTYPE=1;BGN=0.0149204;ARL=243;DER=40;DEA=47;QR=36;QA=37;HL=3;PBP=52;PBM=55;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs141267844,g1000:0.2855,GnomAD_AC_genome:9971,GnomAD_AN_genome:30802,GnomAD:0.3237;SGVEP=ERBB4|-|NM_001042599|21|c.2643+79dupA|.|intronic GT:DP:AD:DP4 0/1:17:5,8:3,2,4,4 2 212295875 152849016 C T 714 off_target VARTYPE=1;BGN=0.00104216;ARL=235;DEA=57;QA=37;PBP=328;PBM=387;TYPE=SNP;DBXREF=dbSNP:rs6710946,g1000:0.7935,esp5400:0.7850,ExAC:0.7330,GnomAD_AC_exome:174197,GnomAD_AN_exome:239444,GnomAD_AC_genome:23562,GnomAD_AN_genome:30886,GnomAD:0.7315;SGVEP=ERBB4|-|NM_001042599|21|c.2488-50G>A|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,11,13 2 212488870 152859334 G GC 201 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=279;DER=45;DEA=52;QR=37;QA=38;PBP=107;PBM=99;SP=2;TYPE=INDEL;DBXREF=dbSNP:rs76332141,g1000:0.8522,GnomAD_AC_genome:26758,GnomAD_AN_genome:30884,GnomAD:0.8664;SGVEP=ERBB4|-|NM_001042599|18|c.2080-102_2080-101insG|.|intronic GT:DP:AD:DP4 0/1:17:9,8:3,6,4,4 2 212576980 152864211 T C 290 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=287;DEA=81;QA=36;PBP=116;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs12994961,g1000:0.0713,GnomAD_AC_genome:2735,GnomAD_AN_genome:30924,GnomAD:0.0884;SGVEP=ERBB4|-|NM_001042599|9|c.998-79A>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,4,6 2 212578379 152864310 TAAAAAAAAAAAAAA TAAAAAAAAAAAA 162 homopolymer_region;off_target VARTYPE=1;BGN=0.583149;ARL=217;DER=24;DEA=58;QR=36;QA=57;HL=14;PBP=84;PBM=86;TYPE=INDEL;DBXREF=dbSNP:rs748883732,GnomAD_AC_genome:29,GnomAD_AN_genome:24278,GnomAD:0.0012;SGVEP=ERBB4|-|NM_001042599|8|c.884-8_884-7del|.|intronic GT:DP:AD:DP4 0/1:77:25,52:14,11,24,28 2 212587321 152864858 G A 922 off_target VARTYPE=1;BGN=0.00104216;ARL=248;DEA=48;QA=37;PBP=477;PBM=447;TYPE=SNP;DBXREF=dbSNP:rs13002712,g1000:0.6957,GnomAD_AC_genome:21137,GnomAD_AN_genome:30920,GnomAD:0.6836;SGVEP=ERBB4|-|NM_001042599|7|c.742-62C>T|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,16,15 2 212812097 152876796 T C 112 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=241;DER=67;DEA=24;QR=34;QA=36;PBP=70;PBM=46;SP=0;TYPE=SNP;DBXREF=dbSNP:rs839541,g1000:0.3550,GnomAD_AC_genome:8432,GnomAD_AN_genome:30924,GnomAD:0.2727;SGVEP=ERBB4|-|NM_001042599|3|c.421+58A>G|.|intronic GT:DP:AD:DP4 0/1:14:9,5:5,4,3,2 2 215593851 153017360 G C 695 off_target VARTYPE=1;BGN=0.00125468;ARL=274;DEA=31;QA=36;PBP=348;PBM=348;TYPE=SNP;DBXREF=dbSNP:rs2075623,g1000:0.5976,GnomAD_AC_genome:20324,GnomAD_AN_genome:30918,GnomAD:0.6574;SGVEP=BARD1|-|NM_000465|11|c.2002-119C>G|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 2 215632124 153019580 ATTTT ATT 260 low_coverage;off_target VARTYPE=1;BGN=0.0185336;ARL=262;DEA=38;QA=75;HL=4;PBP=139;PBM=121;TYPE=INDEL;DBXREF=dbSNP:rs398048293,g1000:0.3662,GnomAD_AC_genome:11877,GnomAD_AN_genome:30860,GnomAD:0.3849;SGVEP=BARD1|-|NM_000465|6|c.1568+80_1568+81del|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 2 215632155 153019581 T C 551 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=258;DEA=56;QA=36;PBP=290;PBM=261;TYPE=SNP;DBXREF=dbSNP:rs5031009,g1000:0.3662,esp5400:0.3616,ExAC:0.3740,GnomAD_AC_exome:88794,GnomAD_AN_exome:238716,GnomAD_AC_genome:11904,GnomAD_AN_genome:30888,GnomAD:0.3735;SGVEP=BARD1|-|NM_000465|6|c.1568+51A>G|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,10,9 2 215632192 153019591 G A 1071 off_target VARTYPE=1;BGN=0.00104216;ARL=236;DEA=65;QA=37;PBP=536;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs5031011,g1000:0.3522,esp5400:0.3381,ExAC:0.3610,clinvar:rs5031011,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:87783,GnomAD_AN_exome:245412,GnomAD_AC_genome:11283,GnomAD_AN_genome:30874,GnomAD:0.3586;SGVEP=BARD1|-|NM_000465|6|c.1568+14C>T|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,18,18 2 215632255 140531 C T 2549 PASS VARTYPE=1;BGN=0.00104216;ARL=216;DEA=79;QA=37;PBP=1278;PBM=1278;TYPE=SNP;DBXREF=dbSNP:rs2070094,g1000:0.3662,esp5400:0.2714,ExAC:0.3780,PhyloP:-3.3280,SIFT:0.7560,PolyPhen2:0.0190,PolyPhen2_HumDiv:0.0580,LRT:0.1230,MutationTaster:0.2060,GERP:-11.3000,clinvar:rs2070094,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:92221,GnomAD_AN_exome:246036,GnomAD_AC_genome:11877,GnomAD_AN_genome:30890,GnomAD:0.3759;SGVEP=BARD1|-|NM_000465|6|c.1519G>A|p.(Val507Met)|missense GT:DP:AD:DP4 1/1:86:0,86:0,0,43,43 2 215632256 140532 A G 2549 PASS VARTYPE=1;BGN=0.00104216;ARL=216;DEA=80;QA=37;PBP=1278;PBM=1278;TYPE=SNP;DBXREF=dbSNP:rs2070093,g1000:0.7706,esp5400:0.7121,ExAC:0.8130,clinvar:rs2070093,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:201220,GnomAD_AN_exome:246078,GnomAD_AC_genome:23664,GnomAD_AN_genome:30900,GnomAD:0.8119;SGVEP=BARD1|-|NM_000465|6|c.1518T>C|p.(His506:)|synonymous GT:DP:AD:DP4 1/1:86:0,86:0,0,43,43 2 215634055 153019776 C T 1042 off_target VARTYPE=1;BGN=0.00125468;ARL=215;DEA=44;QA=36;PBP=493;PBM=551;TYPE=SNP;DBXREF=dbSNP:rs6704780,g1000:0.3652,esp5400:0.3618,ExAC:0.3770,clinvar:rs6704780,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:91416,GnomAD_AN_exome:244234,GnomAD_AC_genome:11914,GnomAD_AN_genome:30902,GnomAD:0.3756;SGVEP=BARD1|-|NM_000465|5|c.1315-19G>A|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,17,19 2 215645464 140622 C G 2756 PASS VARTYPE=1;BGN=0.00104216;ARL=226;DEA=102;QA=37;PBP=1397;PBM=1367;TYPE=SNP;DBXREF=dbSNP:rs2229571,g1000:0.4593,esp5400:0.5274,ExAC:0.5480,PhyloP:0.0960,SIFT:0.8260,PolyPhen2:0.0150,PolyPhen2_HumDiv:0.0310,LRT:0.9610,MutationTaster:0.0000,GERP:-1.0300,clinvar:rs2229571,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:134062,GnomAD_AN_exome:246028,GnomAD_AC_genome:17011,GnomAD_AN_genome:30820,GnomAD:0.5457;SGVEP=BARD1|-|NM_000465|4|c.1134G>C|p.(Arg378Ser)|missense GT:DP:AD:DP4 1/1:93:0,93:0,0,47,46 2 215674090 153022239 T G 2080 off_target VARTYPE=1;BGN=0.00125468;ARL=234;DEA=62;QA=36;PBP=1042;PBM=1042;TYPE=SNP;DBXREF=dbSNP:rs35933323,g1000:0.7448,esp5400:0.7387,ExAC:0.7240,GnomAD_AC_exome:169036,GnomAD_AN_exome:228618,GnomAD_AC_genome:23119,GnomAD_AN_genome:30892,GnomAD:0.7405;SGVEP=BARD1|-|NM_000465|1|c.158+46A>C|.|intronic GT:DP:AD:DP4 1/1:72:0,72:0,0,36,36 2 215674224 140844 G A 10000 PASS VARTYPE=1;BGN=0.00125468;ARL=216;DEA=92;QA=36;PBP=1907;PBM=1965;TYPE=SNP;DBXREF=dbSNP:rs1048108,g1000:0.3313,esp5400:0.2984,ExAC:0.3670,PhyloP:2.2210,SIFT:1.0000,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0020,LRT:1.0000,MutationTaster:1.0000,GERP:3.1000,clinvar:rs1048108,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:86043,GnomAD_AN_exome:223960,GnomAD_AC_genome:10518,GnomAD_AN_genome:30860,GnomAD:0.3789;SGVEP=BARD1|-|NM_000465|1|c.70C>T|p.(Pro24Ser)|missense GT:DP:AD:DP4 1/1:134:0,134:0,0,66,68 2 215674323 153022317 C G 1693 PASS VARTYPE=1;BGN=0.00104216;ARL=236;DEA=56;QA=37;PBP=833;PBM=863;TYPE=SNP;DBXREF=dbSNP:rs1129804,g1000:0.7446,esp5400:0.7632,ExAC:0.6620,clinvar:rs1129804,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:98896,GnomAD_AN_exome:134730,GnomAD_AC_genome:23039,GnomAD_AN_genome:30830,GnomAD:0.7365;SGVEP=BARD1|-|NM_000465|1|c.-30G>C|.|5'UTR GT:DP:AD:DP4 1/1:57:0,57:0,0,28,29 2 215674341 153022321 A G 1302 PASS VARTYPE=1;BGN=0.00125468;ARL=241;DEA=48;QA=36;PBP=580;PBM=724;TYPE=SNP;DBXREF=dbSNP:rs17489363,g1000:0.7450,esp5400:0.7726,ExAC:0.6520,clinvar:rs17489363,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:96141,GnomAD_AN_exome:131078,GnomAD_AC_genome:23042,GnomAD_AN_genome:30824,GnomAD:0.7361;SGVEP=BARD1|-|NM_000465|1|c.-48T>C|.|5'UTR GT:DP:AD:DP4 1/1:45:0,45:0,0,20,25 2 215674371 153022322 C T 833 PASS VARTYPE=1;BGN=0.00104216;ARL=232;DEA=39;QA=37;PBP=387;PBM=447;TYPE=SNP;DBXREF=dbSNP:rs34732883,g1000:0.6583,clinvar:rs34732883,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:20067,GnomAD_AN_genome:30870,GnomAD:0.6500;SGVEP=BARD1|-|NM_000465|1|c.-78G>A|.|5'UTR GT:DP:AD:DP4 1/1:28:0,28:0,0,13,15 2 215797332 153028214 C T 1586 PASS VARTYPE=1;BGN=0.000865644;ARL=231;DEA=55;QA=38;PBP=825;PBM=764;TYPE=SNP;DBXREF=dbSNP:rs17426207,g1000:0.3982,esp5400:0.3869,ExAC:0.4190,clinvar:rs17426207,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:102346,GnomAD_AN_exome:242478,GnomAD_AC_genome:12327,GnomAD_AN_genome:30876,GnomAD:0.4195;SGVEP=ABCA12|-|NM_015657|45|c.*26G>A|.|3'UTR GT:DP:AD:DP4 1/1:52:0,52:0,0,27,25 2 215797527 153028254 AATTC A 861 off_target VARTYPE=1;BGN=0.000865644;ARL=256;DER=31;DEA=68;QR=37;QA=144;PBP=407;PBM=459;TYPE=INDEL;DBXREF=dbSNP:rs71399159,g1000:0.3077,GnomAD_AC_genome:10005,GnomAD_AN_genome:30684,GnomAD:0.3261;SGVEP=ABCA12|-|NM_015657|45|c.6727-66_6727-63del|.|intronic GT:DP:AD:DP4 1/1:35:5,30:2,3,14,16 2 215812297 153029068 G A 1648 off_target VARTYPE=1;BGN=0.00125468;ARL=226;DEA=63;QA=36;PBP=840;PBM=811;TYPE=SNP;DBXREF=dbSNP:rs2274412,g1000:0.5234,esp5400:0.5261,ExAC:0.4670,clinvar:rs2274412,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:113244,GnomAD_AN_exome:244680,GnomAD_AC_genome:15770,GnomAD_AN_genome:30738,GnomAD:0.4684;SGVEP=ABCA12|-|NM_015657|40|c.6151-17C>T|.|intronic GT:DP:AD:DP4 1/1:57:0,57:0,0,29,28 2 215818724 153029539 G A 1004 PASS VARTYPE=1;BGN=0.00125468;ARL=203;DER=91;DEA=106;QR=37;QA=36;PBP=532;PBM=482;TYPE=SNP;DBXREF=dbSNP:rs143387234,g1000:0.0020,esp5400:0.0073,ExAC:0.0056,GnomAD_AC_exome:1361,GnomAD_AN_exome:246014,GnomAD_AC_genome:204,GnomAD_AN_genome:30976,GnomAD:0.0057;SGVEP=ABCA12|-|NM_015657|36|c.5547C>T|p.(Asp1849:)|synonymous GT:DP:AD:DP4 0/1:116:70,46:35,35,24,22 2 215820013 153029633 G A 2284 PASS VARTYPE=1;BGN=0.00104216;ARL=200;DEA=95;QA=37;PBP=1160;PBM=1130;TYPE=SNP;DBXREF=dbSNP:rs10498027,g1000:0.3500,esp5400:0.3815,ExAC:0.4050,clinvar:rs10498027,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:99982,GnomAD_AN_exome:245988,GnomAD_AC_genome:11818,GnomAD_AN_genome:30918,GnomAD:0.4037;SGVEP=ABCA12|-|NM_015657|35|c.5352C>T|p.(Tyr1784:)|synonymous GT:DP:AD:DP4 1/1:77:0,77:0,0,39,38 2 215821580 153029762 T C 535 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=230;DEA=49;QA=35;PBP=226;PBM=310;TYPE=SNP;DBXREF=dbSNP:rs17492577,g1000:0.3033,GnomAD_AC_genome:10473,GnomAD_AN_genome:30798,GnomAD:0.3401;SGVEP=ABCA12|-|NM_015657|34|c.5164-78A>G|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,8,11 2 215833415 153030369 A G 1427 off_target VARTYPE=1;BGN=0.00104216;ARL=235;DEA=55;QA=37;PBP=744;PBM=685;TYPE=SNP;DBXREF=dbSNP:rs4673925,g1000:0.4577,esp5400:0.5130,ExAC:0.5040,GnomAD_AC_exome:123901,GnomAD_AN_exome:245406,GnomAD_AC_genome:15754,GnomAD_AN_genome:30840,GnomAD:0.5055;SGVEP=ABCA12|-|NM_015657|30|c.4824+29T>C|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,25,23 2 215833622 153030402 G T 493 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=258;DEA=28;QA=36;PBP=232;PBM=261;TYPE=SNP;DBXREF=dbSNP:rs6756540,g1000:0.4497,GnomAD_AC_genome:15553,GnomAD_AN_genome:30784,GnomAD:0.5052;SGVEP=ABCA12|-|NM_015657|30|c.4737-91C>A|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,8,9 2 215840414 153030759 C A 447 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=258;DEA=45;QA=37;PBP=238;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs17493319,g1000:0.4451,GnomAD_AC_genome:15168,GnomAD_AN_genome:30900,GnomAD:0.4909;SGVEP=ABCA12|-|NM_015657|26|c.4427+95G>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 2 215840829 153030826 A G 535 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=255;DEA=33;QA=35;PBP=254;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs7594021,g1000:0.3494,GnomAD_AC_genome:12985,GnomAD_AN_genome:30868,GnomAD:0.4207;SGVEP=ABCA12|-|NM_015657|26|c.4175-68T>C|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,9,10 2 215847177 153031282 C A 298 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=239;DEA=28;QA=37;PBP=149;PBM=149;TYPE=SNP;DBXREF=dbSNP:rs4610055,g1000:0.6953,GnomAD_AC_genome:22983,GnomAD_AN_genome:30914,GnomAD:0.7434;SGVEP=ABCA12|-|NM_015657|22|c.3429-70G>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 215848674 153031381 GAAAAAA GAAAAAAA 225 low_coverage;off_target VARTYPE=1;BGN=0.0244456;ARL=257;DEA=38;QA=36;HL=6;PBP=113;PBM=113;TYPE=INDEL;DBXREF=dbSNP:rs79840575,g1000:0.3175,GnomAD_AC_genome:11776,GnomAD_AN_genome:30732,GnomAD:0.3832;SGVEP=ABCA12|-|NM_015657|21|c.3210-86dupT|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 215851246 153031501 A G 1219 off_target VARTYPE=1;BGN=0.00104216;ARL=217;DEA=57;QA=37;PBP=655;PBM=566;TYPE=SNP;DBXREF=dbSNP:rs7559069,g1000:0.9990,esp5400:0.9986,ExAC:1.0000,clinvar:rs7559069,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:245925,GnomAD_AN_exome:245988,GnomAD_AC_genome:30941,GnomAD_AN_genome:30972,GnomAD:0.9997;SGVEP=ABCA12|-|NM_015657|20|c.3209+20T>C|.|intronic GT:DP:AD:DP4 1/1:41:0,41:0,0,22,19 2 215855780 153031877 G A 1367 off_target VARTYPE=1;BGN=0.00104216;ARL=232;DEA=71;QA=37;PBP=685;PBM=685;TYPE=SNP;DBXREF=dbSNP:rs4533467,g1000:0.3001,esp5400:0.3624,ExAC:0.4350,GnomAD_AC_exome:103630,GnomAD_AN_exome:239288,GnomAD_AC_genome:11401,GnomAD_AN_genome:30880,GnomAD:0.4258;SGVEP=ABCA12|-|NM_015657|16|c.2341-25C>T|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,23,23 2 215862383 153032204 G A 1427 off_target VARTYPE=1;BGN=0.00104216;ARL=221;DEA=38;QA=37;PBP=714;PBM=714;TYPE=SNP;DBXREF=dbSNP:rs1980844,g1000:0.7155,esp5400:0.7219,ExAC:0.8420,GnomAD_AC_exome:205948,GnomAD_AN_exome:243282,GnomAD_AC_genome:23628,GnomAD_AN_genome:30934,GnomAD:0.8372;SGVEP=ABCA12|-|NM_015657|15|c.2340+36C>T|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,24,24 2 215862633 153032240 C G 387 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=258;DEA=33;QA=37;PBP=179;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs1326748,g1000:0.9974,GnomAD_AC_genome:30890,GnomAD_AN_genome:30968,GnomAD:0.9975;SGVEP=ABCA12|-|NM_015657|15|c.2226-100G>C|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 2 215865849 153032436 G A 411 low_coverage;off_target VARTYPE=1;BGN=0.00181855;ARL=278;DEA=38;QA=34;PBP=137;PBM=274;TYPE=SNP;DBXREF=dbSNP:rs2049361,g1000:0.9950,GnomAD_AC_genome:30851,GnomAD_AN_genome:30976,GnomAD:0.9960;SGVEP=ABCA12|-|NM_015657|14|c.1910-105C>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,5,10 2 215872334 153032732 G A 435 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=265;DEA=28;QA=36;PBP=232;PBM=203;TYPE=SNP;DBXREF=dbSNP:rs940279,g1000:0.7175,GnomAD_AC_genome:23752,GnomAD_AN_genome:30898,GnomAD:0.7687;SGVEP=ABCA12|-|NM_015657|11|c.1638+117C>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 2 215874965 153032884 G T 417 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=269;DEA=41;QA=37;PBP=209;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs6733264,g1000:0.7163,GnomAD_AC_genome:23665,GnomAD_AN_genome:30914,GnomAD:0.7655;SGVEP=ABCA12|-|NM_015657|10|c.1518+90C>A|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 2 215875251 153032918 A T 753 off_target VARTYPE=1;BGN=0.00125468;ARL=228;DEA=33;QA=36;PBP=348;PBM=406;TYPE=SNP;DBXREF=dbSNP:rs1409607,g1000:0.9998,GnomAD_AC_genome:30935,GnomAD_AN_genome:30952,GnomAD:0.9995;SGVEP=ABCA12|-|NM_015657|10|c.1379-57T>A|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,12,14 2 215876166 153032963 A T 753 PASS VARTYPE=1;BGN=0.00125468;ARL=235;DEA=42;QA=36;PBP=377;PBM=377;TYPE=SNP;DBXREF=dbSNP:rs7560008,g1000:0.9984,esp5400:0.9978,ExAC:0.9990,PhyloP:-0.5860,SIFT:0.7120,PolyPhen2:0.0070,PolyPhen2_HumDiv:0.0000,LRT:0.5130,MutationTaster:0.0200,GERP:-2.8800,clinvar:rs7560008,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:244451,GnomAD_AN_exome:244572,GnomAD_AC_genome:30905,GnomAD_AN_genome:30966,GnomAD:0.9993;SGVEP=ABCA12|-|NM_015657|9|c.1375T>A|p.(Ser459Thr)|missense GT:DP:AD:DP4 1/1:26:0,26:0,0,13,13 2 215883988 153033498 T C 1397 off_target VARTYPE=1;BGN=0.00104216;ARL=243;DEA=52;QA=37;PBP=685;PBM=714;TYPE=SNP;DBXREF=dbSNP:rs1403835,g1000:0.9984,GnomAD_AC_genome:30921,GnomAD_AN_genome:30982,GnomAD:0.9980;SGVEP=ABCA12|-|NM_015657|5|c.703+72A>G|.|intronic GT:DP:AD:DP4 1/1:47:0,47:0,0,23,24 2 215890352 153033869 GTTTTTTTTTTT GTTTTTTTTT 119 homopolymer_region;off_target VARTYPE=1;BGN=0.313991;ARL=237;DER=28;DEA=46;QR=34;QA=71;HL=11;PBP=60;PBM=60;TYPE=INDEL;DBXREF=dbSNP:rs796828852,g1000:1.0000,ExAC:0.9910,GnomAD_AC_genome:26026,GnomAD_AN_genome:26182,GnomAD:0.9940;SGVEP=ABCA12|-|NM_015657|3|c.333+43_333+44del|.|intronic GT:DP:AD:DP4 1/1:24:1,23:0,1,12,11 2 215976231 153038479 A T 268 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=254;DER=47;DEA=58;QR=10;QA=37;PBP=149;PBM=119;TYPE=SNP;DBXREF=dbSNP:rs2948978,g1000:0.9651,GnomAD_AC_genome:29952,GnomAD_AN_genome:30916,GnomAD:0.9688;SGVEP=ABCA12|-|NM_173076|2|c.163+89T>A|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,5,4 2 216176780 153049183 C T 196 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=219;DER=35;DEA=58;QR=36;QA=38;PBP=129;PBM=73;SP=2;TYPE=SNP;DBXREF=dbSNP:rs28366034,g1000:0.1546,esp5400:0.1586,GnomAD_AC_genome:3498,GnomAD_AN_genome:30892,GnomAD:0.1132;SGVEP=ATIC|+|NM_004044|1|c.-86C>T|.|5'UTR GT:DP:AD:DP4 0/1:19:11,8:5,6,5,3 2 216176824 153049191 C T 384 off_target VARTYPE=1;BGN=0.00104216;ARL=209;DER=63;DEA=50;QR=37;QA=37;PBP=231;PBM=160;TYPE=SNP;DBXREF=dbSNP:rs28366035,g1000:0.1617,esp5400:0.1090,ExAC:0.0810,GnomAD_AC_exome:21809,GnomAD_AN_exome:121002,GnomAD_AC_genome:3702,GnomAD_AN_genome:30878,GnomAD:0.1680;SGVEP=ATIC|+|NM_004044|1|c.-42C>T|.|5'UTR GT:DP:AD:DP4 0/1:46:29,17:16,13,10,7 2 216190654 153050211 C T 637 off_target VARTYPE=1;BGN=0.00125468;ARL=244;DEA=50;QA=36;PBP=377;PBM=261;TYPE=SNP;DBXREF=dbSNP:rs7563206,g1000:0.4018,GnomAD_AC_genome:14288,GnomAD_AN_genome:30928,GnomAD:0.4620;SGVEP=ATIC|+|NM_004044|6|c.380-56C>T|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,13,9 2 216190691 153050218 A C 1677 off_target VARTYPE=1;BGN=0.00125468;ARL=230;DEA=50;QA=36;PBP=869;PBM=811;TYPE=SNP;DBXREF=dbSNP:rs2177737,g1000:1.0000,esp5400:0.9998,ExAC:1.0000,GnomAD_AC_exome:244546,GnomAD_AN_exome:244566,GnomAD_AC_genome:30971,GnomAD_AN_genome:30978,GnomAD:0.9999;SGVEP=ATIC|+|NM_004044|6|c.380-19A>C|.|intronic GT:DP:AD:DP4 1/1:58:0,58:0,0,30,28 2 216191515 153050315 C T 1367 off_target VARTYPE=1;BGN=0.00104216;ARL=235;DEA=49;QA=37;PBP=685;PBM=685;TYPE=SNP;DBXREF=dbSNP:rs6751557,g1000:0.4195,esp5400:0.5049,ExAC:0.4260,GnomAD_AC_exome:102676,GnomAD_AN_exome:244358,GnomAD_AC_genome:14815,GnomAD_AN_genome:30872,GnomAD:0.4269;SGVEP=ATIC|+|NM_004044|7|c.532-30C>T|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,23,23 2 216198049 153050786 A G 582 off_target VARTYPE=1;BGN=0.00104216;ARL=232;DER=78;DEA=102;QR=36;QA=37;PBP=309;PBM=280;TYPE=SNP;DBXREF=dbSNP:rs10179873,g1000:0.1392,esp5400:0.2594,ExAC:0.2170,GnomAD_AC_exome:53266,GnomAD_AN_exome:246006,GnomAD_AC_genome:7812,GnomAD_AN_genome:30894,GnomAD:0.2206;SGVEP=ATIC|+|NM_004044|9|c.815-24A>G|.|intronic GT:DP:AD:DP4 0/1:58:33,25:16,17,13,12 2 216211604 153051666 A G 1282 PASS VARTYPE=1;BGN=0.00104216;ARL=210;DER=104;DEA=94;QR=36;QA=37;PBP=672;PBM=621;TYPE=SNP;DBXREF=dbSNP:rs112288749,g1000:0.0052,esp5400:0.0198,ExAC:0.0190,PhyloP:-0.1750,MutationTaster:1.0000,GERP:-0.2420,GnomAD_AC_exome:4385,GnomAD_AN_exome:246136,GnomAD_AC_genome:561,GnomAD_AN_genome:30970,GnomAD:0.0178;SGVEP=ATIC|+|NM_004044|14|c.1443A>G|p.(Gly481:)|synonymous GT:DP:AD:DP4 0/1:111:57,54:29,28,28,26 2 216211712 153051698 A T 1723 off_target VARTYPE=1;BGN=0.00104216;ARL=237;DEA=44;QA=37;PBP=893;PBM=833;TYPE=SNP;DBXREF=dbSNP:rs10932609,g1000:1.0000,esp5400:0.9998,ExAC:1.0000,GnomAD_AC_exome:242251,GnomAD_AN_exome:242260,GnomAD_AC_genome:30983,GnomAD_AN_genome:30986,GnomAD:1.0000;SGVEP=ATIC|+|NM_004044|14|c.1503+48A>T|.|intronic GT:DP:AD:DP4 1/1:58:0,58:0,0,30,28 2 216214492 153051958 T G 447 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=269;DER=6;DEA=41;QR=21;QA=37;PBP=179;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs10498036,g1000:0.5952,GnomAD_AC_genome:18827,GnomAD_AN_genome:30890,GnomAD:0.6095;SGVEP=ATIC|+|NM_004044|16|c.*114T>G|.|3'UTR GT:DP:AD:DP4 1/1:15:0,15:0,0,6,9 2 216226642 153052678 A C 378 off_target VARTYPE=1;BGN=0.00104216;ARL=232;DER=49;DEA=45;QR=37;QA=37;PBP=190;PBM=195;TYPE=SNP;DBXREF=dbSNP:rs13394662,g1000:0.1855,esp5400:0.3204,ExAC:0.2910,GnomAD_AC_exome:70935,GnomAD_AN_exome:240454,GnomAD_AC_genome:9754,GnomAD_AN_genome:30764,GnomAD:0.2975;SGVEP=FN1|-|NM_001306129|46|c.7269+50T>G|.|intronic GT:DP:AD:DP4 0/1:36:20,16:11,9,8,8 2 216232556 153053079 C T 356 off_target VARTYPE=1;BGN=0.00125468;ARL=210;DER=36;DEA=52;QR=36;QA=36;PBP=194;PBM=168;TYPE=SNP;DBXREF=dbSNP:rs7568287,g1000:0.1296,esp5400:0.2504,ExAC:0.2210,GnomAD_AC_exome:53950,GnomAD_AN_exome:244450,GnomAD_AC_genome:7485,GnomAD_AN_genome:30930,GnomAD:0.2231;SGVEP=FN1|-|NM_001306129|43|c.6925+30G>A|.|intronic GT:DP:AD:DP4 0/1:29:14,15:7,7,8,7 2 216235089 153053253 C T 1545 PASS VARTYPE=1;BGN=0.00104216;ARL=210;DEA=95;QA=37;PBP=744;PBM=804;TYPE=SNP;DBXREF=dbSNP:rs1250209,g1000:0.9998,esp5400:0.9998,ExAC:1.0000,PhyloP:0.9600,SIFT:0.0000,PolyPhen2:0.0200,PolyPhen2_HumDiv:0.0220,LRT:1.0000,MutationTaster:1.0000,GERP:5.6000,GnomAD_AC_exome:246243,GnomAD_AN_exome:246248,GnomAD_AC_genome:30863,GnomAD_AN_genome:30868,GnomAD:1.0000;SGVEP=FN1|-|NM_001306129|42|c.6688G>A|p.(Val2230Ile)|missense GT:DP:AD:DP4 1/1:52:0,52:0,0,25,27 2 216240126 153053745 AAC A 584 off_target VARTYPE=1;BGN=0.000865644;ARL=205;DER=52;DEA=64;QR=37;QA=75;PBP=310;PBM=282;TYPE=INDEL;DBXREF=dbSNP:rs71044591,g1000:0.3796,ExAC:0.3000,GnomAD_AC_exome:75642,GnomAD_AN_exome:242686,GnomAD_AC_genome:8433,GnomAD_AN_genome:30874,GnomAD:0.3073;SGVEP=FN1|-|NM_001306129|38|c.5978-12_5978-11del|.|intronic GT:DP:AD:DP4 0/1:66:41,25:20,21,13,12 2 216242917 153053985 T A 136 PASS VARTYPE=1;BGN=0.000865644;ARL=225;DER=97;DEA=73;QR=35;QA=38;PBP=70;PBM=71;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1132741,g1000:0.3247,esp5400:0.1870,ExAC:0.2870,GnomAD_AC_exome:73854,GnomAD_AN_exome:245812,GnomAD_AC_genome:7001,GnomAD_AN_genome:30906,GnomAD:0.2922;SGVEP=FN1|-|NM_001306129|35|c.5691A>T|p.(Gly1897:)|synonymous GT:DP:AD:DP4 0/1:21:15,6:8,7,3,3 2 216243832 153054052 T C 1811 off_target VARTYPE=1;BGN=0.00104216;ARL=229;DEA=59;QA=37;PBP=922;PBM=893;TYPE=SNP;DBXREF=dbSNP:rs1250204,g1000:0.9375,esp5400:0.9274,ExAC:0.9520,GnomAD_AC_exome:234984,GnomAD_AN_exome:246006,GnomAD_AC_genome:28990,GnomAD_AN_genome:30962,GnomAD:0.9531;SGVEP=FN1|-|NM_001306129|34|c.5622+21A>G|.|intronic GT:DP:AD:DP4 1/1:61:0,61:0,0,31,30 2 216248305 153054434 G T 611 off_target VARTYPE=1;BGN=0.000865644;ARL=265;DEA=66;QA=38;PBP=275;PBM=337;TYPE=SNP;DBXREF=dbSNP:rs1250203,g1000:0.8275,GnomAD_AC_genome:25997,GnomAD_AN_genome:30936,GnomAD:0.8403;SGVEP=FN1|-|NM_001306129|31|c.4895-99C>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,9,11 2 216248707 153054462 TAAAA TAA 619 off_target VARTYPE=1;BGN=0.0185336;ARL=212;DER=58;DEA=42;QR=38;QA=75;HL=4;PBP=332;PBM=293;TYPE=INDEL;DBXREF=dbSNP:rs796905613,g1000:0.3738,ExAC:0.3020,GnomAD_AC_exome:76855,GnomAD_AN_exome:245706,GnomAD_AC_genome:8315,GnomAD_AN_genome:30866,GnomAD:0.3079;SGVEP=FN1|-|NM_001306129|30|c.4894+34_4894+35del|.|intronic GT:DP:AD:DP4 0/1:53:32,21:16,16,11,10 2 216249587 153054556 C T 2454 PASS VARTYPE=1;BGN=0.00125468;ARL=222;DEA=72;QA=36;PBP=1273;PBM=1187;TYPE=SNP;DBXREF=dbSNP:rs13652,g1000:0.8686,esp5400:0.8435,ExAC:0.8750,GnomAD_AC_exome:216249,GnomAD_AN_exome:245728,GnomAD_AC_genome:27017,GnomAD_AN_genome:30932,GnomAD:0.8793;SGVEP=FN1|-|NM_001306129|29|c.4725G>A|p.(Glu1575:)|synonymous GT:DP:AD:DP4 1/1:85:0,85:0,0,44,41 2 216251697 153054759 G A 1138 off_target VARTYPE=1;BGN=0.00125468;ARL=219;DER=34;DEA=62;QR=37;QA=36;PBP=537;PBM=609;TYPE=SNP;DBXREF=dbSNP:rs35343655,g1000:0.3736,esp5400:0.2390,ExAC:0.2950,GnomAD_AC_exome:72478,GnomAD_AN_exome:228560,GnomAD_AC_genome:8173,GnomAD_AN_genome:30040,GnomAD:0.3119;SGVEP=FN1|-|NM_001306129|28|c.4343-16C>T|.|intronic GT:DP:AD:DP4 0/1:65:20,45:9,11,21,24 2 216253039 153054835 G C 722 off_target VARTYPE=1;BGN=0.00104216;ARL=238;DER=104;DEA=75;QR=37;QA=37;PBP=362;PBM=366;TYPE=SNP;DBXREF=dbSNP:rs1250215,g1000:0.4117,esp5400:0.5169,ExAC:0.5490,GnomAD_AC_exome:134527,GnomAD_AN_exome:245712,GnomAD_AC_genome:16287,GnomAD_AN_genome:30924,GnomAD:0.5452;SGVEP=FN1|-|NM_001306129|27|c.4253-15C>G|.|intronic GT:DP:AD:DP4 0/1:43:15,28:8,7,14,14 2 216259479 153055315 G A 388 off_target VARTYPE=1;BGN=0.000865644;ARL=246;DER=64;DEA=80;QR=36;QA=38;PBP=198;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs71428382,g1000:0.0304,esp5400:0.0716,ExAC:0.0650,GnomAD_AC_exome:15743,GnomAD_AN_exome:243040,GnomAD_AC_genome:1969,GnomAD_AN_genome:30960,GnomAD:0.0646;SGVEP=FN1|-|NM_001306129|24|c.3605-37C>T|.|intronic GT:DP:AD:DP4 0/1:37:21,16:10,11,8,8 2 216262621 153055516 A C 318 off_target VARTYPE=1;BGN=0.00125468;ARL=245;DER=47;DEA=57;QR=36;QA=36;PBP=152;PBM=172;TYPE=SNP;DBXREF=dbSNP:rs6725958,g1000:0.6542,esp5400:0.5930,ExAC:0.6010,GnomAD_AC_exome:148249,GnomAD_AN_exome:244470,GnomAD_AC_genome:18771,GnomAD_AN_genome:30910,GnomAD:0.6065;SGVEP=FN1|-|NM_001306129|22|c.3349-50T>G|.|intronic GT:DP:AD:DP4 0/1:46:31,15:14,17,7,8 2 216263926 153055579 C A 288 off_target VARTYPE=1;BGN=0.00151053;ARL=254;DER=48;DEA=54;QR=36;QA=35;PBP=159;PBM=134;TYPE=SNP;DBXREF=dbSNP:rs2692224,g1000:0.6168,esp5400:0.5526,GnomAD_AC_genome:17883,GnomAD_AN_genome:30860,GnomAD:0.5795;SGVEP=FN1|-|NM_001306129|21|c.3348+54G>T|.|intronic GT:DP:AD:DP4 0/1:29:16,13:8,8,7,6 2 216263938 153055580 CT CTT 316 off_target VARTYPE=1;BGN=0.00181855;ARL=239;DER=49;DEA=58;QR=37;QA=34;PBP=173;PBM=149;TYPE=INDEL;DBXREF=dbSNP:rs397708033,g1000:0.6170,ExAC:0.5890,GnomAD_AC_exome:146032,GnomAD_AN_exome:244764,GnomAD_AC_genome:17868,GnomAD_AN_genome:30846,GnomAD:0.5947;SGVEP=FN1|-|NM_001306129|21|c.3348+41dupA|.|intronic GT:DP:AD:DP4 0/1:35:20,15:10,10,8,7 2 216269031 153055843 G T 205 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=254;DER=20;DEA=36;QR=37;QA=36;PBP=109;PBM=109;TYPE=SNP;DBXREF=dbSNP:rs7575551,g1000:0.4073,GnomAD_AC_genome:8323,GnomAD_AN_genome:18850,GnomAD:0.4415;SGVEP=FN1|-|NM_001306129|20|c.3253+81C>A|.|intronic GT:DP:AD:DP4 0/1:12:2,8:1,1,4,4 2 216269033 153055846 T G 209 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=261;DER=22;DEA=41;QR=38;QA=35;PBP=133;PBM=79;SP=0;TYPE=SNP;DBXREF=dbSNP:rs72943909,g1000:0.3866,GnomAD_AC_genome:7854,GnomAD_AN_genome:30556,GnomAD:0.2570;SGVEP=FN1|-|NM_001306129|20|c.3253+79A>C|.|intronic GT:DP:AD:DP4 1/1:10:2,8:1,1,5,3 2 216269095 153055861 C T 393 off_target VARTYPE=1;BGN=0.000865644;ARL=238;DER=62;DEA=41;QR=36;QA=38;PBP=198;PBM=201;TYPE=SNP;DBXREF=dbSNP:rs13306359,g1000:0.2869,esp5400:0.3414,ExAC:0.3640,GnomAD_AC_exome:88664,GnomAD_AN_exome:245544,GnomAD_AC_genome:10199,GnomAD_AN_genome:30468,GnomAD:0.3582;SGVEP=FN1|-|NM_001306129|20|c.3253+17G>A|.|intronic GT:DP:AD:DP4 0/1:35:19,16:10,9,8,8 2 216269209 153055885 T G 448 PASS VARTYPE=1;BGN=0.000865644;ARL=223;DER=85;DEA=94;QR=37;QA=38;PBP=216;PBM=240;TYPE=SNP;DBXREF=dbSNP:rs1053238,g1000:0.2867,esp5400:0.3415,ExAC:0.3640,GnomAD_AC_exome:88949,GnomAD_AN_exome:246178,GnomAD_AC_genome:10377,GnomAD_AN_genome:30740,GnomAD:0.3587;SGVEP=FN1|-|NM_001306129|20|c.3156A>C|p.(Pro1052:)|synonymous GT:DP:AD:DP4 0/1:83:62,21:31,31,10,11 2 216269254 153055900 T G 623 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DER=104;DEA=102;QR=37;QA=37;PBP=305;PBM=327;TYPE=SNP;DBXREF=dbSNP:rs7589580,g1000:0.2869,esp5400:0.3419,ExAC:0.3640,GnomAD_AC_exome:89003,GnomAD_AN_exome:246192,GnomAD_AC_genome:10418,GnomAD_AN_genome:30790,GnomAD:0.3589;SGVEP=FN1|-|NM_001306129|20|c.3111A>C|p.(Gly1037:)|synonymous GT:DP:AD:DP4 0/1:93:64,29:31,33,14,15 2 216271763 153056112 A T 190 off_target VARTYPE=1;BGN=0.000865644;ARL=267;DER=29;DEA=54;QR=35;QA=38;PBP=96;PBM=99;SP=0;TYPE=SNP;DBXREF=dbSNP:rs17457002,g1000:0.3163,GnomAD_AC_genome:11159,GnomAD_AN_genome:30908,GnomAD:0.3610;SGVEP=FN1|-|NM_001306129|18|c.2713+87T>A|.|intronic GT:DP:AD:DP4 0/1:22:14,8:8,6,4,4 2 216271812 153056116 A T 225 off_target VARTYPE=1;BGN=0.000865644;ARL=243;DER=62;DEA=81;QR=37;QA=38;PBP=114;PBM=117;TYPE=SNP;DBXREF=dbSNP:rs7592898,g1000:0.2768,esp5400:0.3284,ExAC:0.3570,GnomAD_AC_exome:87196,GnomAD_AN_exome:245790,GnomAD_AC_genome:10133,GnomAD_AN_genome:30930,GnomAD:0.3517;SGVEP=FN1|-|NM_001306129|18|c.2713+38T>A|.|intronic GT:DP:AD:DP4 0/1:34:24,10:13,11,5,5 2 216272819 153056228 C G 529 off_target VARTYPE=1;BGN=0.00104216;ARL=212;DER=53;DEA=56;QR=37;QA=37;PBP=266;PBM=269;TYPE=SNP;DBXREF=dbSNP:rs7570208,g1000:0.6659,esp5400:0.6095,ExAC:0.6050,GnomAD_AC_exome:149784,GnomAD_AN_exome:246116,GnomAD_AC_genome:19135,GnomAD_AN_genome:30890,GnomAD:0.6098;SGVEP=FN1|-|NM_001306129|17|c.2518+12G>C|.|intronic GT:DP:AD:DP4 0/1:45:23,22:12,11,11,11 2 216272900 153056243 T G 1723 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DEA=109;QA=37;PBP=863;PBM=863;TYPE=SNP;DBXREF=dbSNP:rs2577301,g1000:0.9998,esp5400:0.9999,ExAC:1.0000,PhyloP:1.5340,SIFT:0.9450,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.9300,GnomAD_AC_exome:246152,GnomAD_AN_exome:246154,GnomAD_AC_genome:30971,GnomAD_AN_genome:30976,GnomAD:1.0000;SGVEP=FN1|-|NM_001306129|17|c.2449A>C|p.(Thr817Pro)|missense GT:DP:AD:DP4 1/1:58:0,58:0,0,29,29 2 216272907 153056245 A T 649 PASS VARTYPE=1;BGN=0.00125468;ARL=223;DER=91;DEA=113;QR=35;QA=36;PBP=327;PBM=330;TYPE=SNP;DBXREF=dbSNP:rs7596677,g1000:0.4215,esp5400:0.2503,ExAC:0.3390,GnomAD_AC_exome:86688,GnomAD_AN_exome:246086,GnomAD_AC_genome:9037,GnomAD_AN_genome:30906,GnomAD:0.3456;SGVEP=FN1|-|NM_001306129|17|c.2442T>A|p.(Pro814:)|synonymous GT:DP:AD:DP4 0/1:57:29,28:15,14,14,14 2 216274853 153056468 A AAC 231 off_target VARTYPE=1;BGN=0.000865644;ARL=239;DER=17;DEA=76;QR=35;QA=71;PBP=106;PBM=131;TYPE=INDEL;DBXREF=dbSNP:rs567632293,g1000:0.2374,ExAC:0.1980,GnomAD_AC_exome:43649,GnomAD_AN_exome:135674,GnomAD_AC_genome:9205,GnomAD_AN_genome:30114,GnomAD:0.3188;SGVEP=FN1|-|NM_001306129|14|c.1942-18_1942-17dup|.|intronic GT:DP:AD:DP4 0/1:50:24,11:13,11,5,6 2 216274853 153056472 AAC A 206 off_target VARTYPE=1;BGN=0.000865644;ARL=239;DER=17;DEA=64;QR=35;QA=70;PBP=81;PBM=131;SP=1;TYPE=INDEL;DBXREF=dbSNP:rs796781337,g1000:0.3940,ExAC:0.2420,GnomAD_AC_exome:38923,GnomAD_AN_exome:135674,GnomAD_AC_genome:7903,GnomAD_AN_genome:30114,GnomAD:0.2824;SGVEP=FN1|-|NM_001306129|14|c.1942-18_1942-17del|.|intronic GT:DP:AD:DP4 0/1:50:24,10:13,11,4,6 2 216283958 153056948 T A 522 off_target VARTYPE=1;BGN=0.000865644;ARL=213;DER=50;DEA=59;QR=36;QA=38;PBP=278;PBM=251;TYPE=SNP;DBXREF=dbSNP:rs3796123,g1000:0.4115,esp5400:0.2338,ExAC:0.3200,GnomAD_AC_exome:82148,GnomAD_AN_exome:245864,GnomAD_AC_genome:8635,GnomAD_AN_genome:30940,GnomAD:0.3280;SGVEP=FN1|-|NM_001306129|12|c.1819+7A>T|.|intronic GT:DP:AD:DP4 0/1:43:22,21:11,11,11,10 2 216290147 153057511 T A 197 low_coverage;off_target VARTYPE=1;BGN=0.00181855;ARL=288;DER=30;DEA=45;QR=31;QA=34;PBP=110;PBM=94;SP=6;TYPE=SNP;DBXREF=dbSNP:rs2577289,g1000:0.4203,GnomAD_AC_genome:9025,GnomAD_AN_genome:30906,GnomAD:0.2920;SGVEP=FN1|-|NM_001306129|7|c.845-139A>T|.|intronic GT:DP:AD:DP4 0/1:11:3,8:0,3,4,4 2 216299550 153058183 G A 764 PASS VARTYPE=1;BGN=0.00104216;ARL=227;DER=73;DEA=59;QR=35;QA=37;PBP=389;PBM=383;TYPE=SNP;DBXREF=dbSNP:rs2577290,g1000:0.4223,esp5400:0.1338,ExAC:0.3200,GnomAD_AC_exome:81980,GnomAD_AN_exome:246102,GnomAD_AC_genome:9083,GnomAD_AN_genome:30208,GnomAD:0.3296;SGVEP=FN1|-|NM_001306129|2|c.149-3C>T|.|intronic GT:DP:AD:DP4 0/1:66:34,32:16,18,16,16 2 216299551 153058186 C A 714 PASS VARTYPE=1;BGN=0.00104216;ARL=228;DER=72;DEA=62;QR=35;QA=37;PBP=365;PBM=357;TYPE=SNP;DBXREF=dbSNP:rs2692234,g1000:0.4223,esp5400:0.1229,ExAC:0.3200,GnomAD_AC_exome:81988,GnomAD_AN_exome:246118,GnomAD_AC_genome:9082,GnomAD_AN_genome:30162,GnomAD:0.3296;SGVEP=FN1|-|NM_001306129|2|c.149-4G>T|.|intronic GT:DP:AD:DP4 0/1:63:33,30:15,18,15,15 2 216299571 153058192 T TTAC 528 off_target VARTYPE=1;BGN=0.000865644;ARL=236;DER=65;DEA=57;QR=36;QA=113;PBP=270;PBM=265;TYPE=INDEL;DBXREF=dbSNP:rs397752826,g1000:0.5689,GnomAD_AC_exome:125870,GnomAD_AN_exome:245880,GnomAD_AC_genome:16166,GnomAD_AN_genome:30836,GnomAD:0.5133;SGVEP=FN1|-|NM_001306129|2|c.149-27_149-25dup|.|intronic GT:DP:AD:DP4 0/1:52:29,22:13,16,11,11 2 216299629 153058201 C G 127 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=268;DER=45;DEA=40;QR=38;QA=35;PBP=67;PBM=64;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1250247,g1000:0.7925,GnomAD_AC_genome:24435,GnomAD_AN_genome:30956,GnomAD:0.7893;SGVEP=FN1|-|NM_001306129|2|c.149-82G>C|.|intronic GT:DP:AD:DP4 0/1:18:12,6:5,7,3,3 2 216300482 153058265 T A 880 PASS VARTYPE=1;BGN=0.00104216;ARL=231;DER=89;DEA=104;QR=35;QA=37;PBP=458;PBM=431;TYPE=SNP;DBXREF=dbSNP:rs1250259,g1000:0.7951,esp5400:0.7911,ExAC:0.7400,PhyloP:0.8730,SIFT:0.0000,PolyPhen2:0.0090,PolyPhen2_HumDiv:0.0070,LRT:0.9560,MutationTaster:0.0000,GERP:5.3500,GnomAD_AC_exome:163070,GnomAD_AN_exome:215572,GnomAD_AC_genome:24444,GnomAD_AN_genome:30896,GnomAD:0.7608;SGVEP=FN1|-|NM_001306129|1|c.44A>T|p.(Gln15Leu)|missense GT:DP:AD:DP4 0/1:77:40,37:20,20,19,18 2 216810468 153083872 A C 264 off_target VARTYPE=1;BGN=0.00125468;ARL=221;DER=60;DEA=63;QR=38;QA=36;PBP=137;PBM=133;TYPE=SNP;DBXREF=dbSNP:rs62183184,g1000:0.2420,esp5400:0.3217,ExAC:0.3050,GnomAD_AC_exome:74256,GnomAD_AN_exome:239192,GnomAD_AC_genome:9820,GnomAD_AN_genome:30878,GnomAD:0.3113;SGVEP=MREG|-|NM_018000|4|c.347-11T>G|.|intronic GT:DP:AD:DP4 0/1:32:20,12:9,11,6,6 2 216811707 153083953 G T 128 off_target VARTYPE=1;BGN=0.000865644;ARL=235;DER=53;DEA=36;QR=38;QA=38;PBP=65;PBM=67;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1344695,g1000:0.4421,esp5400:0.5518,ExAC:0.5000,GnomAD_AC_exome:110231,GnomAD_AN_exome:211124,GnomAD_AC_genome:16145,GnomAD_AN_genome:30904,GnomAD:0.5222;SGVEP=MREG|-|NM_018000|3|c.346+39C>A|.|intronic GT:DP:AD:DP4 0/1:28:22,6:12,10,3,3 2 216878008 153087446 C G 1663 PASS VARTYPE=1;BGN=0.00104216;ARL=216;DER=119;DEA=90;QR=9;QA=37;PBP=774;PBM=893;TYPE=SNP;DBXREF=dbSNP:rs1864253,g1000:0.6771,esp5400:0.6737,ExAC:0.4860,PhyloP:0.9140,SIFT:0.1300,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.5620,MutationTaster:1.0000,GERP:3.7100,GnomAD_AC_exome:94991,GnomAD_AN_exome:141978,GnomAD_AC_genome:20623,GnomAD_AN_genome:30762,GnomAD:0.6693;SGVEP=MREG|-|NM_018000|1|c.43G>C|p.(Gly15Arg)|missense GT:DP:AD:DP4 1/1:56:0,56:0,0,26,30 2 216904019 153088801 A T 744 PASS VARTYPE=1;BGN=0.00104216;ARL=182;DEA=69;QA=37;PBP=387;PBM=358;TYPE=SNP;DBXREF=dbSNP:rs9288513,g1000:0.1813,esp5400:0.1456,ExAC:0.1320,PhyloP:-1.6390,SIFT:0.7210,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:0.0940,MutationTaster:0.0000,GERP:-8.6300,GnomAD_AC_exome:31690,GnomAD_AN_exome:246198,GnomAD_AC_genome:4219,GnomAD_AN_genome:30930,GnomAD:0.1296;SGVEP=PECR|-|NM_018441|8|c.891T>A|p.(Phe297Leu)|missense GT:DP:AD:DP4 1/1:25:0,25:0,0,13,12 2 216923679 153090024 C T 367 low_coverage VARTYPE=1;BGN=0.000865644;ARL=243;DEA=92;QA=38;PBP=184;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs1429148,g1000:0.1751,esp5400:0.1141,ExAC:0.1100,PhyloP:-0.5310,SIFT:0.3600,PolyPhen2:0.0620,PolyPhen2_HumDiv:0.0150,LRT:0.9220,MutationTaster:0.8920,GERP:-1.0100,GnomAD_AC_exome:26385,GnomAD_AN_exome:245936,GnomAD_AC_genome:3468,GnomAD_AN_genome:30944,GnomAD:0.1078;SGVEP=PECR|-|NM_018441|4|c.445G>A|p.(Glu149Lys)|missense GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 217012901 153095295 A G 1249 PASS VARTYPE=1;BGN=0.00104216;ARL=215;DEA=92;QA=37;PBP=655;PBM=596;TYPE=SNP;DBXREF=dbSNP:rs207906,g1000:0.8828,esp5400:0.8724,ExAC:0.8710,GnomAD_AC_exome:215445,GnomAD_AN_exome:245938,GnomAD_AC_genome:27269,GnomAD_AN_genome:30936,GnomAD:0.8766;SGVEP=XRCC5|+|NM_021141|14|c.1572A>G|p.(Thr524:)|synonymous GT:DP:AD:DP4 1/1:42:0,42:0,0,22,20 2 217055171 153097610 A G 477 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=270;DEA=36;QA=37;PBP=209;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs12470053,g1000:0.8295,GnomAD_AC_genome:22327,GnomAD_AN_genome:30922,GnomAD:0.7220;SGVEP=XRCC5|+|NM_021141|17|c.1944+114A>G|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,7,9 2 217069151 153098367 A G 1038 off_target VARTYPE=1;BGN=0.000865644;ARL=220;DEA=59;QA=38;PBP=489;PBM=550;TYPE=SNP;DBXREF=dbSNP:rs1438162,g1000:0.4207,esp5400:0.3173,ExAC:0.4120,GnomAD_AC_exome:105686,GnomAD_AN_exome:245664,GnomAD_AC_genome:11218,GnomAD_AN_genome:30914,GnomAD:0.4227;SGVEP=XRCC5|+|NM_021141|20|c.2184+32A>G|.|intronic GT:DP:AD:DP4 1/1:34:0,34:0,0,16,18 2 217280876 153109507 T C 477 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=240;DER=20;DEA=31;QR=38;QA=38;PBP=265;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs71577872,g1000:0.0891,GnomAD_AC_genome:3031,GnomAD_AN_genome:30974,GnomAD:0.0979;SGVEP=SMARCAL1|+|NM_001127207|4|c.812-104T>C|.|intronic GT:DP:AD:DP4 1/1:17:1,16:1,0,9,7 2 217281150 153109546 ACCCCCCCC ACCCCCCC 126 low_coverage;off_target VARTYPE=1;BGN=0.061712;ARL=260;DER=31;DEA=59;QR=20;QA=37;HL=8;PBP=64;PBM=64;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs398081055,g1000:0.7608,GnomAD_AC_genome:22236,GnomAD_AN_genome:30806,GnomAD:0.7218;SGVEP=SMARCAL1|+|NM_001127207|4|c.862+128del|.|intronic GT:DP:AD:DP4 1/1:14:2,12:1,1,6,6 2 217297350 153110447 G A 207 off_target VARTYPE=1;BGN=0.00104216;ARL=250;DER=34;DEA=34;QR=36;QA=37;PBP=118;PBM=94;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2271334,g1000:0.2588,GnomAD_AC_genome:6546,GnomAD_AN_genome:30900,GnomAD:0.2118;SGVEP=SMARCAL1|+|NM_001127207|8|c.1335-91G>A|.|intronic GT:DP:AD:DP4 0/1:24:15,9:8,7,5,4 2 217311630 153111241 G T 152 off_target VARTYPE=1;BGN=0.00125468;ARL=269;DER=45;DEA=37;QR=37;QA=36;PBP=89;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs284550,g1000:0.4503,GnomAD_AC_genome:11446,GnomAD_AN_genome:30866,GnomAD:0.3708;SGVEP=SMARCAL1|+|NM_001127207|11|c.1711-111G>T|.|intronic GT:DP:AD:DP4 0/1:21:14,7:8,6,4,3 2 217315787 153111536 T C 618 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DER=64;DEA=72;QR=36;QA=37;PBP=326;PBM=300;TYPE=SNP;DBXREF=dbSNP:rs2066527,g1000:0.0845,esp5400:0.0978,ExAC:0.1120,clinvar:rs2066527,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:26861,GnomAD_AN_exome:244698,GnomAD_AC_genome:3203,GnomAD_AN_genome:30944,GnomAD:0.1091;SGVEP=SMARCAL1|+|NM_001127207|12|c.2070T>C|p.(Thr690:)|synonymous GT:DP:AD:DP4 0/1:67:40,27:20,20,14,13 2 217342000 153112905 T C 1389 off_target VARTYPE=1;BGN=0.00125468;ARL=236;DEA=33;QA=36;PBP=637;PBM=753;TYPE=SNP;DBXREF=dbSNP:rs284523,g1000:0.4028,GnomAD_AC_genome:11346,GnomAD_AN_genome:30874,GnomAD:0.3675;SGVEP=SMARCAL1|+|NM_001127207|16|c.2528+68T>C|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,22,26 2 217343136 153112995 GCC GCCC 229 low_coverage;off_target VARTYPE=1;BGN=0.0123871;ARL=284;DEA=76;QA=35;HL=2;PBP=114;PBM=114;TYPE=INDEL;DBXREF=dbSNP:rs397693463,g1000:0.4343,GnomAD_AC_genome:12673,GnomAD_AN_genome:30844,GnomAD:0.4109;SGVEP=SMARCAL1|+|NM_001127207|17|c.2625+116dupC|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 219128506 153210161 C T 648 off_target VARTYPE=1;BGN=0.00151053;ARL=229;DEA=35;QA=35;PBP=310;PBM=338;TYPE=SNP;DBXREF=dbSNP:rs2292549,g1000:0.7887,GnomAD_AC_genome:25150,GnomAD_AN_genome:30918,GnomAD:0.8134;SGVEP=GPBAR1|+|NM_001077191|2|c.*66C>T|.|3'UTR GT:DP:AD:DP4 1/1:23:0,23:0,0,11,12 2 219187901 153214012 C T 724 off_target VARTYPE=1;BGN=0.00125468;ARL=239;DEA=56;QA=36;PBP=493;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs1870125,g1000:0.4728,GnomAD_AC_genome:14893,GnomAD_AN_genome:30534,GnomAD:0.4878;SGVEP=PNKD|+|NM_015488|3|c.237-16605C>T|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,17,8 2 219206919 153215211 C T 435 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=241;DEA=54;QA=36;PBP=203;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs3816562,g1000:0.4800,esp5400:0.4269,ExAC:0.5220,GnomAD_AC_exome:122340,GnomAD_AN_exome:227466,GnomAD_AC_genome:13927,GnomAD_AN_genome:30880,GnomAD:0.5275;SGVEP=PNKD|+|NM_015488|7|c.781+52C>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,7,8 2 219209393 153215423 A G 1042 off_target VARTYPE=1;BGN=0.00125468;ARL=255;DEA=67;QA=36;PBP=522;PBM=522;TYPE=SNP;DBXREF=dbSNP:rs1350336,g1000:0.9902,GnomAD_AC_genome:30693,GnomAD_AN_genome:30894,GnomAD:0.9935;SGVEP=PNKD|+|NM_015488|9|c.984+100A>G|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,18,18 2 219254622 153218556 A G 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=227;DEA=80;QA=37;PBP=1870;PBM=2018;TYPE=SNP;DBXREF=dbSNP:rs2695342,g1000:0.9846,esp5400:0.9865,ExAC:0.9960,GnomAD_AC_exome:244750,GnomAD_AN_exome:245618,GnomAD_AC_genome:30558,GnomAD_AN_genome:30932,GnomAD:0.9955;SGVEP=SLC11A1|+|NM_000578|9|c.825A>G|p.(Ala275:)|synonymous GT:DP:AD:DP4 1/1:131:0,131:0,0,63,68 2 219257688 153218876 T C 2608 off_target VARTYPE=1;BGN=0.00104216;ARL=225;DER=82;DEA=62;QR=38;QA=37;PBP=1338;PBM=1278;TYPE=SNP;DBXREF=dbSNP:rs2045433,g1000:0.9868,esp5400:0.9909,ExAC:0.9970,GnomAD_AC_exome:216278,GnomAD_AN_exome:216852,GnomAD_AC_genome:30629,GnomAD_AN_genome:30912,GnomAD:0.9965;SGVEP=SLC11A1|+|NM_000578|12|c.1165-16T>C|.|intronic GT:DP:AD:DP4 1/1:88:0,88:0,0,45,43 2 219678877 141010 C T 705 PASS VARTYPE=1;BGN=0.00104216;ARL=224;DER=75;DEA=73;QR=35;QA=37;PBP=357;PBM=357;TYPE=SNP;DBXREF=dbSNP:rs41272687,g1000:0.0086,esp5400:0.0178,ExAC:0.0190,PhyloP:2.7060,SIFT:0.9980,PolyPhen2:0.9910,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.7600,clinvar:rs41272687,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:4686,GnomAD_AN_exome:246178,GnomAD_AC_genome:394,GnomAD_AN_genome:30970,GnomAD:0.0183;SGVEP=CYP27A1|+|NM_000784|6|c.1151C>T|p.(Pro384Leu)|missense GT:DP:AD:DP4 0/1:66:36,30:18,18,15,15 2 219691566 153245573 A G 774 off_target VARTYPE=1;BGN=0.00104216;ARL=226;DEA=34;QA=37;PBP=477;PBM=298;TYPE=SNP;DBXREF=dbSNP:rs1467320,g1000:0.8259,GnomAD_AC_genome:26671,GnomAD_AN_genome:30912,GnomAD:0.8628;SGVEP=PRKAG3|-|NM_017431|10|c.1168+85T>C|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,16,10 2 219692527 153245750 GCCC GCCCC 467 off_target VARTYPE=1;BGN=0.0149204;ARL=259;DER=2;DEA=96;QR=34;QA=36;HL=3;PBP=256;PBM=217;TYPE=INDEL;DBXREF=dbSNP:rs397695159,g1000:1.0000,ExAC:1.0000,GnomAD_AC_exome:246123,GnomAD_AN_exome:246128,GnomAD_AC_genome:30882,GnomAD_AN_genome:30882,GnomAD:1.0000;SGVEP=PRKAG3|-|NM_017431|7|c.820+28dupG|.|intronic GT:DP:AD:DP4 1/1:29:1,27:0,1,14,13 2 219692790 153245811 AGGG AGGGG 803 PASS VARTYPE=1;BGN=0.0149204;ARL=212;DEA=75;QA=36;HL=3;PBP=402;PBM=402;TYPE=INDEL;DBXREF=dbSNP:rs869169516,g1000:0.9984,ExAC:1.0000,GnomAD_AC_exome:156294,GnomAD_AN_exome:156300,GnomAD_AC_genome:30894,GnomAD_AN_genome:30894,GnomAD:1.0000;SGVEP=PRKAG3|-|NM_017431|6|c.716-6dupC|.|intronic GT:DP:AD:DP4 1/1:44:0,44:0,0,22,22 2 219696014 153246175 G A 644 off_target VARTYPE=1;BGN=0.00125468;ARL=222;DER=49;DEA=68;QR=36;QA=36;PBP=340;PBM=312;TYPE=SNP;DBXREF=dbSNP:rs650898,g1000:0.9551,esp5400:0.9387,ExAC:0.9150,GnomAD_AC_exome:161966,GnomAD_AN_exome:175782,GnomAD_AC_genome:28549,GnomAD_AN_genome:30902,GnomAD:0.9218;SGVEP=PRKAG3|-|NM_017431|2|c.73+45C>T|.|intronic GT:DP:AD:DP4 0/1:70:41,29:20,21,15,14 2 219920037 153259253 A G 3028 PASS VARTYPE=1;BGN=0.00125468;ARL=235;DEA=113;QA=36;PBP=1562;PBM=1475;TYPE=SNP;DBXREF=dbSNP:rs394452,g1000:0.8862,esp5400:0.8533,ExAC:0.8340,GnomAD_AC_exome:203387,GnomAD_AN_exome:243620,GnomAD_AC_genome:26691,GnomAD_AN_genome:30922,GnomAD:0.8380;SGVEP=IHH|-|NM_002181|3|c.1128T>C|p.(Thr376:)|synonymous GT:DP:AD:DP4 1/1:105:0,105:0,0,54,51 2 219920412 153259352 A G 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=233;DER=80;DEA=109;QR=38;QA=37;PBP=1989;PBM=2048;TYPE=SNP;DBXREF=dbSNP:rs3731881,g1000:0.4848,esp5400:0.5914,ExAC:0.5980,clinvar:rs3731881,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:147050,GnomAD_AN_exome:245762,GnomAD_AC_genome:18320,GnomAD_AN_genome:30820,GnomAD:0.5979;SGVEP=IHH|-|NM_002181|3|c.753T>C|p.(Pro251:)|synonymous GT:DP:AD:DP4 1/1:136:0,136:0,0,67,69 2 219922073 153259480 G C 139 off_target VARTYPE=1;BGN=0.00125468;ARL=224;DEA=1;QA=36;PBP=83;PBM=60;SP=0;TYPE=SNP;DBXREF=dbSNP:rs76433127;SGVEP=IHH|-|NM_002181|2|c.577+82C>G|.|intronic GT:DP:AD:DP4 0/1:31:0,7:0,0,4,3 2 219922073 153259481 GC GCC 650 off_target VARTYPE=1;BGN=0.00104216;ARL=224;DEA=40;QA=37;PBP=325;PBM=331;TYPE=INDEL;DBXREF=dbSNP:rs397987874,g1000:0.4842,GnomAD_AC_genome:18312,GnomAD_AN_genome:30760,GnomAD:0.5953;SGVEP=IHH|-|NM_002181|2|c.577+81dupG|.|intronic GT:DP:AD:DP4 1/1:31:0,24:0,0,12,12 2 219941063 153260424 G A 1130 off_target VARTYPE=1;BGN=0.00104216;ARL=199;DEA=47;QA=37;PBP=596;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs897477,g1000:0.6384,esp5400:0.7399,ExAC:0.7100,GnomAD_AC_exome:174265,GnomAD_AN_exome:245878,GnomAD_AC_genome:22640,GnomAD_AN_genome:30862,GnomAD:0.7115;SGVEP=NHEJ1|-|NM_024782|8|c.*40C>T|.|3'UTR GT:DP:AD:DP4 1/1:38:0,38:0,0,20,18 2 220012576 153263843 G C 506 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=259;DEA=47;QA=37;PBP=238;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs7585742,g1000:0.4137,GnomAD_AC_genome:15888,GnomAD_AN_genome:30920,GnomAD:0.5138;SGVEP=NHEJ1|-|NM_024782|4|c.391-59C>G|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,8,9 2 220022176 153264299 C T 1041 off_target VARTYPE=1;BGN=0.00104216;ARL=242;DEA=58;QA=37;PBP=536;PBM=506;TYPE=SNP;DBXREF=dbSNP:rs6436120,g1000:0.9024,esp5400:0.9133,ExAC:0.9640,GnomAD_AC_exome:238079,GnomAD_AN_exome:245314,GnomAD_AC_genome:28851,GnomAD_AN_genome:30942,GnomAD:0.9662;SGVEP=NHEJ1|-|NM_024782|3|c.390+18G>A|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,18,17 2 220022435 153264357 G C 1900 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DEA=55;QA=37;PBP=893;PBM=1011;TYPE=SNP;DBXREF=dbSNP:rs2030452,g1000:0.4157,esp5400:0.5093,ExAC:0.5480,GnomAD_AC_exome:126383,GnomAD_AN_exome:222974,GnomAD_AC_genome:15919,GnomAD_AN_genome:30916,GnomAD:0.5605;SGVEP=NHEJ1|-|NM_024782|3|c.178-29C>G|.|intronic GT:DP:AD:DP4 1/1:64:0,64:0,0,30,34 2 220078496 153269182 T C 2166 off_target VARTYPE=1;BGN=0.00104216;ARL=249;DEA=76;QA=37;PBP=1071;PBM=1100;TYPE=SNP;DBXREF=dbSNP:rs2139823,g1000:0.9710,esp5400:0.9732,GnomAD_AC_genome:30174,GnomAD_AN_genome:30952,GnomAD:0.9749;SGVEP=ABCB6|-|NM_005689|9|c.1578+52A>G|.|intronic GT:DP:AD:DP4 1/1:73:0,73:0,0,36,37 2 220083279 153269859 C T 2626 PASS VARTYPE=1;BGN=0.00125468;ARL=216;DEA=96;QA=36;PBP=1216;PBM=1418;TYPE=SNP;DBXREF=dbSNP:rs1109866,g1000:0.7380,esp5400:0.7599,ExAC:0.8440,GnomAD_AC_exome:206297,GnomAD_AN_exome:241066,GnomAD_AC_genome:24180,GnomAD_AN_genome:30920,GnomAD:0.8474;SGVEP=ABCB6|-|NM_005689|1|c.117G>A|p.(Leu39:)|synonymous GT:DP:AD:DP4 1/1:91:0,91:0,0,42,49 2 220083453 153269895 G T 596 off_target VARTYPE=1;BGN=0.00104216;ARL=243;DEA=56;QA=37;PBP=268;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs1109867,g1000:0.7380,GnomAD_AC_genome:24166,GnomAD_AN_genome:30910,GnomAD:0.7818;SGVEP=ABCB6|-|NM_005689|1|c.-58C>A|.|5'UTR GT:DP:AD:DP4 1/1:20:0,20:0,0,9,11 2 220283259 141118 A G 2253 PASS VARTYPE=1;BGN=0.00125468;ARL=231;DEA=99;QA=36;PBP=1187;PBM=1071;TYPE=SNP;DBXREF=dbSNP:rs1318299,g1000:0.8862,esp5400:0.8908,ExAC:0.9580,clinvar:rs1318299,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:216321,GnomAD_AN_exome:223470,GnomAD_AC_genome:27703,GnomAD_AN_genome:30876,GnomAD:0.9594;SGVEP=DES|+|NM_001927|1|c.75A>G|p.(Pro25:)|synonymous GT:DP:AD:DP4 1/1:78:0,78:0,0,41,37 2 220283277 141120 T C 2540 PASS VARTYPE=1;BGN=0.00125468;ARL=231;DEA=92;QA=36;PBP=1331;PBM=1216;TYPE=SNP;DBXREF=dbSNP:rs2017800,g1000:0.8660,esp5400:0.8715,ExAC:0.9520,clinvar:rs2017800,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:217356,GnomAD_AN_exome:225456,GnomAD_AC_genome:27195,GnomAD_AN_genome:30882,GnomAD:0.9540;SGVEP=DES|+|NM_001927|1|c.93T>C|p.(Ser31:)|synonymous GT:DP:AD:DP4 1/1:88:0,88:0,0,46,42 2 220283826 153284367 T G 1634 off_target VARTYPE=1;BGN=0.00104216;ARL=233;DEA=52;QA=37;PBP=714;PBM=922;TYPE=SNP;DBXREF=dbSNP:rs907677,g1000:1.0000,GnomAD_AC_genome:30911,GnomAD_AN_genome:30914,GnomAD:0.9999;SGVEP=DES|+|NM_001927|1|c.578+64T>G|.|intronic GT:DP:AD:DP4 1/1:55:0,55:0,0,24,31 2 220284717 153284398 G C 423 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=245;DEA=58;QA=35;PBP=226;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs2666106,g1000:0.9906,GnomAD_AC_genome:30725,GnomAD_AN_genome:30932,GnomAD:0.9933;SGVEP=DES|+|NM_001927|2|c.579-100G>C|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 2 220284779 153284403 C T 377 off_target VARTYPE=1;BGN=0.000865644;ARL=226;DER=48;DEA=46;QR=36;QA=38;PBP=165;PBM=218;TYPE=SNP;DBXREF=dbSNP:rs12991025,g1000:0.5294,esp5400:0.4782,ExAC:0.6170,clinvar:rs12991025,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:154752,GnomAD_AN_exome:246144,GnomAD_AC_genome:16289,GnomAD_AN_genome:30884,GnomAD:0.6174;SGVEP=DES|+|NM_001927|2|c.579-38C>T|.|intronic GT:DP:AD:DP4 0/1:42:26,16:13,13,7,9 2 220285309 141194 C T 1374 PASS VARTYPE=1;BGN=0.00104216;ARL=219;DER=95;DEA=111;QR=37;QA=37;PBP=693;PBM=693;TYPE=SNP;DBXREF=dbSNP:rs1058261,g1000:0.3375,esp5400:0.3846,ExAC:0.3360,clinvar:rs1058261,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:81216,GnomAD_AN_exome:245052,GnomAD_AC_genome:10824,GnomAD_AN_genome:30844,GnomAD:0.3336;SGVEP=DES|+|NM_001927|4|c.828C>T|p.(Asp276:)|synonymous GT:DP:AD:DP4 0/1:142:82,60:41,41,30,30 2 220285666 141212 G C 1069 PASS VARTYPE=1;BGN=0.00104216;ARL=226;DER=76;DEA=66;QR=36;QA=37;PBP=518;PBM=561;TYPE=SNP;DBXREF=dbSNP:rs12920,g1000:0.3377,esp5400:0.3859,ExAC:0.3350,clinvar:rs12920,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:80749,GnomAD_AN_exome:243828,GnomAD_AC_genome:10875,GnomAD_AN_genome:30864,GnomAD:0.3336;SGVEP=DES|+|NM_001927|5|c.1014G>C|p.(Leu338:)|synonymous GT:DP:AD:DP4 0/1:104:58,46:27,31,22,24 2 220286142 141231 G A 1676 PASS VARTYPE=1;BGN=0.00125468;ARL=214;DER=83;DEA=106;QR=37;QA=36;PBP=838;PBM=852;TYPE=SNP;DBXREF=dbSNP:rs1058284,g1000:0.3337,esp5400:0.3840,ExAC:0.3360,clinvar:rs1058284,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:81662,GnomAD_AN_exome:246192,GnomAD_AC_genome:10822,GnomAD_AN_genome:30830,GnomAD:0.3339;SGVEP=DES|+|NM_001927|6|c.1104G>A|p.(Ala368:)|synonymous GT:DP:AD:DP4 0/1:180:104,76:55,49,38,38 2 220404381 153293720 A G 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=234;DEA=102;QA=37;PBP=1693;PBM=1604;TYPE=SNP;DBXREF=dbSNP:rs1976616,g1000:0.9770,esp5400:0.9794,ExAC:0.9930,GnomAD_AC_exome:241403,GnomAD_AN_exome:242686,GnomAD_AC_genome:30368,GnomAD_AN_genome:30948,GnomAD:0.9932;SGVEP=CHPF|-|NM_001195731|4|c.1566T>C|p.(Tyr522:)|synonymous GT:DP:AD:DP4 1/1:111:0,111:0,0,57,54 2 220404648 153293771 C T 10000 PASS VARTYPE=1;BGN=0.00125468;ARL=235;DER=3;DEA=116;QR=38;QA=36;PBP=1763;PBM=1774;TYPE=SNP;DBXREF=dbSNP:rs1043833,g1000:0.3063,esp5400:0.3900,ExAC:0.4050,GnomAD_AC_exome:101382,GnomAD_AN_exome:244942,GnomAD_AC_genome:12234,GnomAD_AN_genome:30912,GnomAD:0.4119;SGVEP=CHPF|-|NM_001195731|4|c.1299G>A|p.(Leu433:)|synonymous GT:DP:AD:DP4 1/1:124:1,123:0,1,61,62 2 220404726 153293799 G A 10000 PASS VARTYPE=1;BGN=0.00125468;ARL=229;DER=81;DEA=110;QR=35;QA=36;PBP=1706;PBM=1803;TYPE=SNP;DBXREF=dbSNP:rs1043832,g1000:0.3063,esp5400:0.3906,ExAC:0.4050,GnomAD_AC_exome:101290,GnomAD_AN_exome:244628,GnomAD_AC_genome:12237,GnomAD_AN_genome:30904,GnomAD:0.4120;SGVEP=CHPF|-|NM_001195731|4|c.1221C>T|p.(His407:)|synonymous GT:DP:AD:DP4 1/1:123:1,122:0,1,59,63 2 220405230 153293936 G A 10000 PASS VARTYPE=1;BGN=0.00125468;ARL=223;DER=45;DEA=107;QR=24;QA=36;PBP=1965;PBM=2138;TYPE=SNP;DBXREF=dbSNP:rs6436154,g1000:0.3111,esp5400:0.3958,ExAC:0.4070,GnomAD_AC_exome:101650,GnomAD_AN_exome:244930,GnomAD_AC_genome:12340,GnomAD_AN_genome:30822,GnomAD:0.4134;SGVEP=CHPF|-|NM_001195731|4|c.717C>T|p.(His239:)|synonymous GT:DP:AD:DP4 1/1:142:0,142:0,0,68,74 2 220405321 153293960 T C 2932 PASS VARTYPE=1;BGN=0.00104216;ARL=222;DEA=75;QA=37;PBP=1308;PBM=1634;TYPE=SNP;DBXREF=dbSNP:rs6436155,g1000:0.9615,esp5400:0.9783,ExAC:0.9850,PhyloP:0.6350,SIFT:0.1560,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.9870,MutationTaster:0.0000,GERP:2.6000,GnomAD_AC_exome:235676,GnomAD_AN_exome:239018,GnomAD_AC_genome:30215,GnomAD_AN_genome:30940,GnomAD:0.9849;SGVEP=CHPF|-|NM_001195731|4|c.626A>G|p.(Gln209Arg)|missense GT:DP:AD:DP4 1/1:99:0,99:0,0,44,55 2 220406722 153294150 T C 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=213;DEA=99;QA=37;PBP=2431;PBM=2313;TYPE=SNP;DBXREF=dbSNP:rs3731912,g1000:0.7548,esp5400:0.7067,ExAC:0.7360,GnomAD_AC_exome:164702,GnomAD_AN_exome:220406,GnomAD_AC_genome:22122,GnomAD_AN_genome:30808,GnomAD:0.7437;SGVEP=CHPF|-|NM_001195731|2|c.18A>G|p.(Leu6:)|synonymous GT:DP:AD:DP4 1/1:160:0,160:0,0,82,78 2 220406944 153294179 G A 377 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=201;DEA=21;QA=36;PBP=203;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs7581251,g1000:0.9698,esp5400:0.9780,ExAC:0.9880,GnomAD_AC_exome:2496,GnomAD_AN_exome:2560,GnomAD_AC_genome:28112,GnomAD_AN_genome:28802,GnomAD:0.9760;SGVEP=CHPF|-|NM_001195731|2|c.-172-33C>T|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 2 220407918 153294238 G T 927 off_target VARTYPE=1;BGN=0.00125468;ARL=242;DEA=75;QA=36;PBP=493;PBM=435;TYPE=SNP;DBXREF=dbSNP:rs10932810,g1000:0.1564,esp5400:0.1450,ExAC:0.1500,GnomAD_AC_exome:15965,GnomAD_AN_exome:90924,GnomAD_AC_genome:5614,GnomAD_AN_genome:30828,GnomAD:0.1772;SGVEP=CHPF|-|NM_024536|1|c.314+29C>A|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,17,15 2 220415595 153295018 GGA G 1350 off_target VARTYPE=1;BGN=0.000865644;ARL=228;DER=0;DEA=78;QR=36;QA=73;PBP=659;PBM=720;TYPE=INDEL;DBXREF=dbSNP:rs869062633,g1000:0.3840,ExAC:0.4080,GnomAD_AC_exome:97663,GnomAD_AN_exome:229436,GnomAD_AC_genome:13798,GnomAD_AN_genome:30782,GnomAD:0.4283;SGVEP=OBSL1|-|NM_015311|21|c.5684-33_5684-32del|.|intronic GT:DP:AD:DP4 1/1:50:2,46:1,1,22,24 2 220415646 153295024 T C 778 off_target VARTYPE=1;BGN=0.00104216;ARL=236;DEA=53;QA=37;PBP=346;PBM=435;TYPE=SNP;DBXREF=dbSNP:rs1043582,g1000:0.3842,esp5400:0.4323,GnomAD_AC_genome:13864,GnomAD_AN_genome:30802,GnomAD:0.4501;SGVEP=OBSL1|-|NM_015311|21|c.5684-82A>G|.|intronic GT:DP:AD:DP4 1/1:29:0,27:0,0,12,15 2 220416164 153295054 T C 464 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=257;DEA=48;QA=36;PBP=232;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs6761575,g1000:0.9389,GnomAD_AC_genome:28975,GnomAD_AN_genome:30772,GnomAD:0.9416;SGVEP=OBSL1|-|NM_015311|20|c.5683+87A>G|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 2 220416570 153295151 C T 1456 off_target VARTYPE=1;BGN=0.00104216;ARL=248;DEA=61;QA=37;PBP=536;PBM=922;TYPE=SNP;DBXREF=dbSNP:rs4672931,g1000:0.9287,esp5400:0.9480,ExAC:0.9740,GnomAD_AC_exome:169232,GnomAD_AN_exome:173142,GnomAD_AC_genome:28775,GnomAD_AN_genome:30898,GnomAD:0.9704;SGVEP=OBSL1|-|NM_015311|20|c.5414-50G>A|.|intronic GT:DP:AD:DP4 1/1:49:0,49:0,0,18,31 2 220416591 153295153 C T 1013 off_target VARTYPE=1;BGN=0.00125468;ARL=248;DEA=58;QA=36;PBP=406;PBM=609;TYPE=SNP;DBXREF=dbSNP:rs4672932,g1000:0.9287,GnomAD_AC_genome:28777,GnomAD_AN_genome:30902,GnomAD:0.9312;SGVEP=OBSL1|-|NM_015311|20|c.5414-71G>A|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,14,21 2 220416803 153295168 A T 2080 off_target VARTYPE=1;BGN=0.00125468;ARL=220;DEA=56;QA=36;PBP=1129;PBM=956;TYPE=SNP;DBXREF=dbSNP:rs4672933,g1000:0.9782,esp5400:0.9839,ExAC:0.9930,GnomAD_AC_exome:187306,GnomAD_AN_exome:188176,GnomAD_AC_genome:30372,GnomAD_AN_genome:30918,GnomAD:0.9935;SGVEP=OBSL1|-|NM_015311|19|c.5413+31T>A|.|intronic GT:DP:AD:DP4 1/1:72:0,72:0,0,39,33 2 220416942 141286 G C 2608 PASS VARTYPE=1;BGN=0.00104216;ARL=215;DEA=55;QA=37;PBP=1278;PBM=1338;TYPE=SNP;DBXREF=dbSNP:rs34490902,g1000:0.3876,esp5400:0.4347,ExAC:0.4090,clinvar:rs34490902,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:91133,GnomAD_AN_exome:204254,GnomAD_AC_genome:14157,GnomAD_AN_genome:30906,GnomAD:0.4477;SGVEP=OBSL1|-|NM_015311|19|c.5309-4C>G|.|intronic GT:DP:AD:DP4 1/1:88:0,88:0,0,43,45 2 220417228 153295231 G T 1634 off_target VARTYPE=1;BGN=0.00104216;ARL=219;DEA=59;QA=37;PBP=922;PBM=714;TYPE=SNP;DBXREF=dbSNP:rs60549465,g1000:0.3391,esp5400:0.3779,ExAC:0.3910,GnomAD_AC_exome:81813,GnomAD_AN_exome:194346,GnomAD_AC_genome:12748,GnomAD_AN_genome:30716,GnomAD:0.4202;SGVEP=OBSL1|-|NM_015311|18|c.5308+30C>A|.|intronic GT:DP:AD:DP4 1/1:55:0,55:0,0,31,24 2 220417266 153295238 C T 3168 PASS VARTYPE=1;BGN=0.00104216;ARL=211;DEA=66;QA=37;PBP=1693;PBM=1486;TYPE=SNP;DBXREF=dbSNP:rs59332477,g1000:0.3766,esp5400:0.4205,ExAC:0.4160,PhyloP:2.3900,SIFT:0.9510,PolyPhen2:0.9970,PolyPhen2_HumDiv:1.0000,MutationTaster:1.0000,GERP:4.6100,clinvar:rs59332477,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:92353,GnomAD_AN_exome:214318,GnomAD_AC_genome:13635,GnomAD_AN_genome:30804,GnomAD:0.4324;SGVEP=OBSL1|-|NM_015311|18|c.5300G>A|p.(Arg1767Gln)|missense GT:DP:AD:DP4 1/1:107:0,107:0,0,57,50 2 220419236 153295447 T C 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=215;DEA=83;QA=37;PBP=1900;PBM=1663;TYPE=SNP;DBXREF=dbSNP:rs10932813,g1000:0.9852,esp5400:0.9891,ExAC:0.9960,clinvar:rs10932813,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:244169,GnomAD_AN_exome:244980,GnomAD_AC_genome:30566,GnomAD_AN_genome:30920,GnomAD:0.9958;SGVEP=OBSL1|-|NM_015311|15|c.4836A>G|p.(Thr1612:)|synonymous GT:DP:AD:DP4 1/1:120:0,120:0,0,64,56 2 220419339 153295467 T C 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=219;DEA=94;QA=37;PBP=2048;PBM=2048;TYPE=SNP;DBXREF=dbSNP:rs10932814,g1000:0.9611,esp5400:0.9619,ExAC:0.9850,PhyloP:1.0750,SIFT:0.6770,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:4.3700,clinvar:rs10932814,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:240903,GnomAD_AN_exome:244016,GnomAD_AC_genome:29810,GnomAD_AN_genome:30896,GnomAD:0.9847;SGVEP=OBSL1|-|NM_015311|15|c.4733A>G|p.(Gln1578Arg)|missense GT:DP:AD:DP4 1/1:138:0,138:0,0,69,69 2 220420956 153295650 A G 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=226;DEA=90;QA=37;PBP=1693;PBM=1900;TYPE=SNP;DBXREF=dbSNP:rs10932816,g1000:0.9637,esp5400:0.9704,ExAC:0.9890,PhyloP:-1.3070,SIFT:1.0000,MutationTaster:1.0000,GERP:-5.7200,clinvar:rs10932816,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:236950,GnomAD_AN_exome:238944,GnomAD_AC_genome:30044,GnomAD_AN_genome:30928,GnomAD:0.9893;SGVEP=OBSL1|-|NM_001173431|14|c.4395T>C|p.(Asp1465:)|synonymous GT:DP:AD:DP4 1/1:121:0,121:0,0,57,64 2 220421417 153295760 C G 3197 PASS VARTYPE=1;BGN=0.00104216;ARL=235;DEA=76;QA=37;PBP=1604;PBM=1604;TYPE=SNP;DBXREF=dbSNP:rs1983210,g1000:0.7246,esp5400:0.7021,ExAC:0.7400,PhyloP:0.9540,SIFT:0.8790,PolyPhen2:0.7590,PolyPhen2_HumDiv:0.8460,MutationTaster:1.0000,GERP:2.1100,clinvar:rs1983210,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:179878,GnomAD_AN_exome:243562,GnomAD_AC_genome:21741,GnomAD_AN_genome:30864,GnomAD:0.7347;SGVEP=OBSL1|-|NM_001173431|13|c.4095G>C|p.(Glu1365Asp)|missense GT:DP:AD:DP4 1/1:108:0,108:0,0,54,54 2 220421456 153295768 C A 2339 off_target VARTYPE=1;BGN=0.00125468;ARL=247;DEA=56;QA=36;PBP=1071;PBM=1273;TYPE=SNP;DBXREF=dbSNP:rs1983211,g1000:0.1170,esp5400:0.1242,ExAC:0.1600,clinvar:rs1983211,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:38545,GnomAD_AN_exome:228178,GnomAD_AC_genome:4555,GnomAD_AN_genome:30878,GnomAD:0.1664;SGVEP=OBSL1|-|NM_001173431|13|c.4067-11G>T|.|intronic GT:DP:AD:DP4 1/1:81:0,81:0,0,37,44 2 220422029 153295800 G A 1677 off_target VARTYPE=1;BGN=0.00125468;ARL=239;DER=21;DEA=55;QR=38;QA=36;PBP=984;PBM=695;TYPE=SNP;DBXREF=dbSNP:rs55873563,g1000:0.1188,esp5400:0.1163,ExAC:0.0830,GnomAD_AC_exome:11099,GnomAD_AN_exome:70176,GnomAD_AC_genome:4574,GnomAD_AN_genome:30892,GnomAD:0.1551;SGVEP=OBSL1|-|NM_001173431|12|c.4066+36C>T|.|intronic GT:DP:AD:DP4 1/1:58:0,58:0,0,34,24 2 220422400 153295877 C G 833 off_target VARTYPE=1;BGN=0.00104216;ARL=251;DEA=73;QA=37;PBP=298;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs2278200,g1000:0.4087,GnomAD_AC_genome:14361,GnomAD_AN_genome:30796,GnomAD:0.4663;SGVEP=OBSL1|-|NM_001173431|12|c.3791-60G>C|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,10,18 2 220422501 153295883 AGG AG 412 off_target VARTYPE=1;BGN=0.0123871;ARL=238;DER=74;DEA=34;QR=36;QA=35;HL=2;PBP=225;PBM=195;TYPE=INDEL;DBXREF=dbSNP:rs559123134,g1000:0.0040,ExAC:0.0063,GnomAD_AC_exome:1340,GnomAD_AN_exome:199590,GnomAD_AC_genome:172,GnomAD_AN_genome:30920,GnomAD:0.0066;SGVEP=OBSL1|-|NM_001173431|11|c.3790+43del|.|intronic GT:DP:AD:DP4 0/1:51:22,29:9,13,15,14 2 220422774 153295952 A G 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=222;DEA=91;QA=37;PBP=1930;PBM=2136;TYPE=SNP;DBXREF=dbSNP:rs2278201,g1000:0.4191,esp5400:0.4553,ExAC:0.4290,PhyloP:-2.1930,MutationTaster:1.0000,GERP:-8.3100,clinvar:rs2278201,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:105218,GnomAD_AN_exome:242446,GnomAD_AC_genome:14652,GnomAD_AN_genome:30874,GnomAD:0.4386;SGVEP=OBSL1|-|NM_001173431|11|c.3561T>C|p.(Pro1187:)|synonymous GT:DP:AD:DP4 1/1:137:0,137:0,0,65,72 2 220427101 153296380 G A 847 off_target VARTYPE=1;BGN=0.00125468;ARL=223;DER=54;DEA=40;QR=36;QA=36;PBP=437;PBM=419;TYPE=SNP;DBXREF=dbSNP:rs375456363,esp5400:0.0001,ExAC:0.0000,GnomAD_AC_exome:11,GnomAD_AN_exome:239804,GnomAD_AC_genome:3,GnomAD_AN_genome:30926,GnomAD:0.0001;SGVEP=OBSL1|-|NM_001173408|8|c.2953+23C>T|.|intronic GT:DP:AD:DP4 0/1:78:41,37:22,19,19,18 2 220427996 153296504 T C 1504 off_target VARTYPE=1;BGN=0.00125468;ARL=252;DEA=48;QA=36;PBP=811;PBM=695;TYPE=SNP;DBXREF=dbSNP:rs11904583,g1000:0.9780,GnomAD_AC_genome:30285,GnomAD_AN_genome:30894,GnomAD:0.9803;SGVEP=OBSL1|-|NM_001173408|7|c.2680+81A>G|.|intronic GT:DP:AD:DP4 1/1:52:0,52:0,0,28,24 2 220428381 153296611 A T 1870 off_target VARTYPE=1;BGN=0.00104216;ARL=236;DEA=67;QA=37;PBP=863;PBM=1011;TYPE=SNP;DBXREF=dbSNP:rs2303543,g1000:0.5567,esp5400:0.5597,ExAC:0.6440,GnomAD_AC_exome:149889,GnomAD_AN_exome:232554,GnomAD_AC_genome:17789,GnomAD_AN_genome:30748,GnomAD:0.6368;SGVEP=OBSL1|-|NM_001173408|7|c.2408-32T>A|.|intronic GT:DP:AD:DP4 1/1:63:0,63:0,0,29,34 2 220430203 153296777 C T 2284 PASS VARTYPE=1;BGN=0.00104216;ARL=230;DEA=82;QA=37;PBP=1100;PBM=1189;TYPE=SNP;DBXREF=dbSNP:rs1039898,g1000:0.7927,esp5400:0.8270,ExAC:0.8650,PhyloP:-0.0960,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:2.1200,clinvar:rs1039898,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:211737,GnomAD_AN_exome:244152,GnomAD_AC_genome:25590,GnomAD_AN_genome:30898,GnomAD:0.8629;SGVEP=OBSL1|-|NM_001173408|6|c.2168G>A|p.(Arg723Lys)|missense GT:DP:AD:DP4 1/1:77:0,77:0,0,37,40 2 220431458 153296862 A C 214 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=248;DER=57;DEA=36;QR=38;QA=36;PBP=121;PBM=98;SP=0;TYPE=SNP;DBXREF=dbSNP:rs62191614,g1000:0.1791,GnomAD_AC_genome:6087,GnomAD_AN_genome:30914,GnomAD:0.1969;SGVEP=OBSL1|-|NM_001173408|5|c.2134+94T>G|.|intronic GT:DP:AD:DP4 0/1:18:9,9:5,4,5,4 2 220431631 153296894 G T 1768 PASS VARTYPE=1;BGN=0.00104216;ARL=207;DER=94;DEA=98;QR=37;QA=37;PBP=894;PBM=888;TYPE=SNP;DBXREF=dbSNP:rs1043537,g1000:0.1709,esp5400:0.1941,ExAC:0.2260,clinvar:rs1043537,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:55011,GnomAD_AN_exome:244950,GnomAD_AC_genome:5847,GnomAD_AN_genome:30894,GnomAD:0.2206;SGVEP=OBSL1|-|NM_001173408|5|c.2055C>A|p.(Ala685:)|synonymous GT:DP:AD:DP4 0/1:146:72,74:35,37,37,37 2 220431919 153296962 A G 1782 off_target VARTYPE=1;BGN=0.00104216;ARL=249;DEA=97;QA=37;PBP=893;PBM=893;TYPE=SNP;DBXREF=dbSNP:rs4674412,g1000:0.9796,GnomAD_AC_genome:30314,GnomAD_AN_genome:30946,GnomAD:0.9796;SGVEP=OBSL1|-|NM_001173408|5|c.1838-71T>C|.|intronic GT:DP:AD:DP4 1/1:60:0,60:0,0,30,30 2 220432014 153296982 G A 1936 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DER=67;DEA=75;QR=36;QA=37;PBP=1048;PBM=903;TYPE=SNP;DBXREF=dbSNP:rs61732787,g1000:0.1717,esp5400:0.1957,ExAC:0.2220,clinvar:rs61732787,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:53128,GnomAD_AN_exome:237662,GnomAD_AC_genome:5839,GnomAD_AN_genome:30880,GnomAD:0.2196;SGVEP=OBSL1|-|NM_001173408|4|c.1818C>T|p.(Phe606:)|synonymous GT:DP:AD:DP4 0/1:169:87,82:46,41,44,38 2 220432709 153297141 A T 1249 off_target VARTYPE=1;BGN=0.00151053;ARL=244;DER=116;DEA=107;QR=35;QA=35;PBP=592;PBM=668;TYPE=SNP;DBXREF=dbSNP:rs2292360,g1000:0.3678,esp5400:0.3487,ExAC:0.4220,GnomAD_AC_exome:103298,GnomAD_AN_exome:244330,GnomAD_AC_genome:11883,GnomAD_AN_genome:30854,GnomAD:0.4186;SGVEP=OBSL1|-|NM_001173408|3|c.1283-18T>A|.|intronic GT:DP:AD:DP4 0/1:103:48,55:24,24,26,29 2 220433113 153297253 T C 378 off_target VARTYPE=1;BGN=0.00104216;ARL=257;DER=57;DEA=84;QR=31;QA=37;PBP=156;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs12623922,g1000:0.1701,GnomAD_AC_genome:5764,GnomAD_AN_genome:30868,GnomAD:0.1867;SGVEP=OBSL1|-|NM_001173408|2|c.1013-67A>G|.|intronic GT:DP:AD:DP4 0/1:26:11,15:4,7,6,9 2 220435034 141300 A G 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=221;DEA=97;QA=37;PBP=1782;PBM=1782;TYPE=SNP;DBXREF=dbSNP:rs10180675,g1000:0.7833,esp5400:0.8189,ExAC:0.8610,clinvar:rs10180675,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:206170,GnomAD_AN_exome:238330,GnomAD_AC_genome:25348,GnomAD_AN_genome:30878,GnomAD:0.8600;SGVEP=OBSL1|-|NM_001173408|1|c.921T>C|p.(Leu307:)|synonymous GT:DP:AD:DP4 1/1:120:0,120:0,0,60,60 2 220435375 153297455 G A 1620 PASS VARTYPE=1;BGN=0.00125468;ARL=215;DER=86;DEA=104;QR=36;QA=36;PBP=858;PBM=774;TYPE=SNP;DBXREF=dbSNP:rs1061399,g1000:0.3588,esp5400:0.2946,ExAC:0.2610,clinvar:rs1061399,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:43622,GnomAD_AN_exome:101886,GnomAD_AC_genome:11430,GnomAD_AN_genome:30410,GnomAD:0.4161;SGVEP=OBSL1|-|NM_001173408|1|c.580C>T|p.(Leu194:)|synonymous GT:DP:AD:DP4 0/1:112:45,67:22,23,35,32 2 220436973 153297618 A G 140 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=268;DER=29;DEA=68;QR=32;QA=37;PBP=70;PBM=74;SP=0;TYPE=SNP;DBXREF=dbSNP:rs11893842,g1000:0.4209,GnomAD_AC_genome:13528,GnomAD_AN_genome:30770,GnomAD:0.4396;SGVEP=INHA|+|NM_002191|1|c.-124A>G|.|5'UTR GT:DP:AD:DP4 0/1:16:10,6:6,4,3,3 2 220462640 153299200 G T 825 off_target VARTYPE=1;BGN=0.000865644;ARL=193;DEA=90;QA=38;PBP=398;PBM=428;TYPE=SNP;DBXREF=dbSNP:rs681747,g1000:0.8333,esp5400:0.8392,ExAC:0.9350,PhyloP:-1.1630,SIFT:1.0000,MutationTaster:0.0010,GERP:-4.1800,GnomAD_AC_exome:228687,GnomAD_AN_exome:242528,GnomAD_AC_genome:25952,GnomAD_AN_genome:30922,GnomAD:0.9312;SGVEP=STK11IP|+|NM_052902|1|c.-32G>T|.|5'UTR GT:DP:AD:DP4 1/1:27:0,27:0,0,13,14 2 220466199 153299485 G T 984 off_target VARTYPE=1;BGN=0.00125468;ARL=229;DEA=70;QA=36;PBP=522;PBM=464;TYPE=SNP;DBXREF=dbSNP:rs620698,g1000:0.8047,esp5400:0.8098,ExAC:0.9250,GnomAD_AC_exome:223248,GnomAD_AN_exome:238074,GnomAD_AC_genome:25159,GnomAD_AN_genome:30932,GnomAD:0.9234;SGVEP=STK11IP|+|NM_052902|3|c.267+37G>T|.|intronic GT:DP:AD:DP4 1/1:34:0,34:0,0,18,16 2 220471116 153299948 C G 927 off_target VARTYPE=1;BGN=0.00125468;ARL=241;DEA=101;QA=36;PBP=493;PBM=435;TYPE=SNP;DBXREF=dbSNP:rs633200,g1000:0.8924,ExAC:0.9420,GnomAD_AC_exome:163608,GnomAD_AN_exome:170796,GnomAD_AC_genome:27503,GnomAD_AN_genome:30926,GnomAD:0.9474;SGVEP=STK11IP|+|NM_052902|11|c.946-82C>G|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,17,15 2 220471252 153299982 G T 353 off_target VARTYPE=1;BGN=0.00104216;ARL=218;DER=90;DEA=103;QR=34;QA=37;PBP=207;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs181018339,g1000:0.0014,esp5400:0.0035,ExAC:0.0027,GnomAD_AC_exome:650,GnomAD_AN_exome:243250,GnomAD_AC_genome:99,GnomAD_AN_genome:30938,GnomAD:0.0027;SGVEP=STK11IP|+|NM_052902|11|c.987+13G>T|.|intronic GT:DP:AD:DP4 0/1:48:32,16:15,17,9,7 2 220472596 153300151 G T 310 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=289;DEA=35;QA=35;PBP=169;PBM=141;TYPE=SNP;DBXREF=dbSNP:rs630063,g1000:0.8311,GnomAD_AC_genome:26095,GnomAD_AN_genome:30870,GnomAD:0.8453;SGVEP=STK11IP|+|NM_052902|14|c.1220-173G>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 2 220473355 153300302 G A 721 PASS VARTYPE=1;BGN=0.00104216;ARL=233;DER=100;DEA=114;QR=35;QA=37;PBP=327;PBM=402;TYPE=SNP;DBXREF=dbSNP:rs673951,g1000:0.3504,esp5400:0.2429,ExAC:0.3630,PhyloP:-0.1020,SIFT:0.7470,PolyPhen2:0.0900,PolyPhen2_HumDiv:0.3940,LRT:0.5530,MutationTaster:0.0000,GERP:0.4560,GnomAD_AC_exome:91203,GnomAD_AN_exome:245080,GnomAD_AC_genome:9397,GnomAD_AN_genome:30844,GnomAD:0.3646;SGVEP=STK11IP|+|NM_052902|15|c.1654G>A|p.(Val552Ile)|missense GT:DP:AD:DP4 0/1:51:22,29:10,12,13,16 2 220476443 153300647 C T 3168 PASS VARTYPE=1;BGN=0.00104216;ARL=234;DEA=112;QA=37;PBP=1575;PBM=1604;TYPE=SNP;DBXREF=dbSNP:rs627530,g1000:0.8391,esp5400:0.8406,ExAC:0.9360,PhyloP:0.4840,SIFT:0.9470,PolyPhen2:0.0070,PolyPhen2_HumDiv:0.0040,LRT:0.5840,MutationTaster:0.0000,GERP:1.3100,GnomAD_AC_exome:231942,GnomAD_AN_exome:245658,GnomAD_AC_genome:26105,GnomAD_AN_genome:30872,GnomAD:0.9332;SGVEP=STK11IP|+|NM_052902|18|c.2222C>T|p.(Ser741Phe)|missense GT:DP:AD:DP4 1/1:107:0,107:0,0,53,54 2 220476645 153300688 T C 10000 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DEA=80;QA=37;PBP=1959;PBM=2018;TYPE=SNP;DBXREF=dbSNP:rs581547,g1000:0.8672,esp5400:0.8762,ExAC:0.9560,GnomAD_AC_exome:183381,GnomAD_AN_exome:189040,GnomAD_AC_genome:27140,GnomAD_AN_genome:30884,GnomAD:0.9572;SGVEP=STK11IP|+|NM_052902|19|c.2336-32T>C|.|intronic GT:DP:AD:DP4 1/1:134:0,134:0,0,66,68 2 220479312 153300977 T C 922 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DEA=65;QA=37;PBP=447;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs624773,g1000:0.9792,esp5400:0.9767,ExAC:0.9930,GnomAD_AC_exome:243248,GnomAD_AN_exome:244608,GnomAD_AC_genome:30272,GnomAD_AN_genome:30954,GnomAD:0.9926;SGVEP=STK11IP|+|NM_052902|23|c.2869+44T>C|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,15,16 2 220480693 153301139 G C 1013 off_target VARTYPE=1;BGN=0.00125468;ARL=233;DEA=31;QA=36;PBP=551;PBM=464;TYPE=SNP;DBXREF=dbSNP:rs665845,g1000:0.9702,GnomAD_AC_genome:30021,GnomAD_AN_genome:30932,GnomAD:0.9705;SGVEP=STK11IP|+|NM_052902|25|c.3118-73G>C|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,19,16 2 220495167 153302085 A C 338 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=275;DEA=72;QA=35;PBP=141;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs612078,g1000:0.9449,GnomAD_AC_genome:29484,GnomAD_AN_genome:30838,GnomAD:0.9561;SGVEP=SLC4A3|+|NM_001326559|6|c.892+93A>C|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,5,7 2 220500321 153302628 C G 271 off_target VARTYPE=1;BGN=0.00125468;ARL=264;DER=82;DEA=88;QR=35;QA=36;PBP=127;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs2305055,g1000:0.2328,GnomAD_AC_genome:6275,GnomAD_AN_genome:30882,GnomAD:0.2032;SGVEP=SLC4A3|+|NM_001326559|14|c.2054-74C>G|.|intronic GT:DP:AD:DP4 0/1:43:30,13:15,15,6,7 2 220500423 153302640 A G 1389 PASS VARTYPE=1;BGN=0.00125468;ARL=226;DEA=76;QA=36;PBP=666;PBM=724;TYPE=SNP;DBXREF=dbSNP:rs589767,g1000:0.9469,esp5400:0.9479,ExAC:0.9840,GnomAD_AC_exome:213370,GnomAD_AN_exome:215940,GnomAD_AC_genome:29457,GnomAD_AN_genome:30862,GnomAD:0.9839;SGVEP=SLC4A3|+|NM_001326559|14|c.2082A>G|p.(Glu694:)|synonymous GT:DP:AD:DP4 1/1:48:0,48:0,0,23,25 2 220500426 153302643 A G 1397 PASS VARTYPE=1;BGN=0.00104216;ARL=226;DEA=80;QA=37;PBP=655;PBM=744;TYPE=SNP;DBXREF=dbSNP:rs639214,g1000:0.9064,esp5400:0.8927,ExAC:0.9630,GnomAD_AC_exome:206568,GnomAD_AN_exome:213242,GnomAD_AC_genome:28062,GnomAD_AN_genome:30858,GnomAD:0.9612;SGVEP=SLC4A3|+|NM_001326559|14|c.2085A>G|p.(Ala695:)|synonymous GT:DP:AD:DP4 1/1:47:0,47:0,0,22,25 2 220502367 153302889 A C 653 PASS VARTYPE=1;BGN=0.00125468;ARL=225;DER=104;DEA=93;QR=36;QA=36;PBP=342;PBM=320;TYPE=SNP;DBXREF=dbSNP:rs635311,g1000:0.6775,esp5400:0.6738,ExAC:0.7430,PhyloP:-0.2310,SIFT:0.7850,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0000,MutationTaster:0.0000,GERP:-2.3400,GnomAD_AC_exome:184509,GnomAD_AN_exome:245086,GnomAD_AC_genome:21938,GnomAD_AN_genome:30736,GnomAD:0.7485;SGVEP=SLC4A3|+|NM_001326559|17|c.2681A>C|p.(Asp894Ala)|missense GT:DP:AD:DP4 0/1:92:61,31:31,30,16,15 2 220505265 153303231 T C 1706 PASS VARTYPE=1;BGN=0.00125468;ARL=218;DEA=86;QA=36;PBP=811;PBM=898;TYPE=SNP;DBXREF=dbSNP:rs684428,g1000:0.6909,esp5400:0.7109,ExAC:0.7940,GnomAD_AC_exome:197641,GnomAD_AN_exome:246114,GnomAD_AC_genome:22990,GnomAD_AN_genome:30856,GnomAD:0.7966;SGVEP=SLC4A3|+|NM_001326559|21|c.3472T>C|p.(Leu1158:)|synonymous GT:DP:AD:DP4 1/1:59:0,59:0,0,28,31 2 223096709 153437829 G C 120 low_coverage;off_target VARTYPE=1;BGN=0.00263583;ARL=278;DER=64;DEA=112;QR=37;QA=32;PBP=62;PBM=62;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1965791,g1000:0.6621,GnomAD_AC_genome:23983,GnomAD_AN_genome:30926,GnomAD:0.7755;SGVEP=PAX3|-|NM_001127366|5|c.789+88C>G|.|intronic GT:DP:AD:DP4 0/1:14:8,6:4,4,3,3 2 223158424 153441027 ACT A 115 low_variant_fraction;off_target VARTYPE=1;BGN=0.000865644;ARL=220;DER=85;DEA=93;QR=36;QA=75;PBP=60;PBM=60;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs150420509,ExAC:0.0270,GnomAD_AC_exome:18,GnomAD_AN_exome:235562,GnomAD_AC_genome:0,GnomAD_AN_genome:30564,GnomAD:0.0001;SGVEP=PAX3|-|NM_001127366|4|c.583+460_583+461del|.|intronic GT:DP:AD:DP4 0/1:44:38,6:19,19,3,3 2 223161606 153441340 C A 247 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=280;DER=34;DEA=43;QR=36;QA=35;PBP=150;PBM=101;TYPE=SNP;DBXREF=dbSNP:rs13405641,g1000:0.0897,GnomAD_AC_genome:4976,GnomAD_AN_genome:30930,GnomAD:0.1609;SGVEP=PAX3|-|NM_000438|2|c.321+91G>T|.|intronic GT:DP:AD:DP4 0/1:15:5,10:3,2,6,4 2 223161624 153441343 A G 625 off_target VARTYPE=1;BGN=0.00104216;ARL=265;DEA=44;QA=37;PBP=387;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs12694578,g1000:0.5419,GnomAD_AC_genome:15145,GnomAD_AN_genome:30870,GnomAD:0.4906;SGVEP=PAX3|-|NM_000438|2|c.321+73T>C|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,13,8 2 223161889 141341 A G 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=225;DER=68;DEA=89;QR=10;QA=37;PBP=1811;PBM=1930;TYPE=SNP;DBXREF=dbSNP:rs12623857,g1000:0.9044,esp5400:0.8483,ExAC:0.8700,clinvar:rs12623857,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:192383,GnomAD_AN_exome:217550,GnomAD_AC_genome:26363,GnomAD_AN_genome:30964,GnomAD:0.8802;SGVEP=PAX3|-|NM_000438|2|c.129T>C|p.(Gly43:)|synonymous GT:DP:AD:DP4 1/1:126:0,126:0,0,61,65 2 223162024 153441398 T G 602 off_target VARTYPE=1;BGN=0.00181855;ARL=264;DEA=45;QA=34;PBP=301;PBM=301;TYPE=SNP;DBXREF=dbSNP:rs6754024,g1000:0.9040,GnomAD_AC_genome:26348,GnomAD_AN_genome:30942,GnomAD:0.8515;SGVEP=PAX3|-|NM_000438|2|c.86-92A>C|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 2 223917629 153480424 C T 1154 PASS VARTYPE=1;BGN=0.00125468;ARL=220;DER=98;DEA=92;QR=37;QA=36;PBP=573;PBM=592;TYPE=SNP;DBXREF=dbSNP:rs3795886,g1000:0.7250,esp5400:0.7015,ExAC:0.7130,GnomAD_AC_exome:176233,GnomAD_AN_exome:245812,GnomAD_AC_genome:22299,GnomAD_AN_genome:30888,GnomAD:0.7175;SGVEP=KCNE4|+|NM_080671|2|c.234C>T|p.(Gly78:)|synonymous GT:DP:AD:DP4 0/1:134:81,53:39,42,26,27 2 223917812 153480465 T C 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=215;DEA=101;QA=37;PBP=1959;PBM=1930;TYPE=SNP;DBXREF=dbSNP:rs10201907,g1000:0.9667,esp5400:0.9568,ExAC:0.9480,GnomAD_AC_exome:233242,GnomAD_AN_exome:245972,GnomAD_AC_genome:29755,GnomAD_AN_genome:30942,GnomAD:0.9497;SGVEP=KCNE4|+|NM_080671|2|c.417T>C|p.(Pro139:)|synonymous GT:DP:AD:DP4 1/1:131:0,131:0,0,66,65 2 223917983 153480498 T G 880 PASS VARTYPE=1;BGN=0.00104216;ARL=223;DER=90;DEA=89;QR=35;QA=37;PBP=400;PBM=490;TYPE=SNP;DBXREF=dbSNP:rs12621643,g1000:0.6709,esp5400:0.6385,ExAC:0.7020,PhyloP:-2.3090,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:-10.7000,GnomAD_AC_exome:174344,GnomAD_AN_exome:245344,GnomAD_AC_genome:20699,GnomAD_AN_genome:30846,GnomAD:0.7062;SGVEP=KCNE4|+|NM_080671|2|c.588T>G|p.(Asp196Glu)|missense GT:DP:AD:DP4 0/1:114:72,40:33,39,18,22 2 223918080 153480519 C G 1367 off_target VARTYPE=1;BGN=0.00104216;ARL=225;DEA=48;QA=37;PBP=625;PBM=744;TYPE=SNP;DBXREF=dbSNP:rs10189762,g1000:0.9451,esp5400:0.9384,ExAC:0.9340,GnomAD_AC_exome:221463,GnomAD_AN_exome:236048,GnomAD_AC_genome:29261,GnomAD_AN_genome:30946,GnomAD:0.9391;SGVEP=KCNE4|+|NM_080671|2|c.*19C>G|.|3'UTR GT:DP:AD:DP4 1/1:46:0,46:0,0,21,25 2 225368321 153557011 A G 804 off_target VARTYPE=1;BGN=0.00104216;ARL=221;DEA=35;QA=37;PBP=417;PBM=387;TYPE=SNP;DBXREF=dbSNP:rs3738951,g1000:0.5397,esp5400:0.4626,ExAC:0.4870,GnomAD_AC_exome:75416,GnomAD_AN_exome:148408,GnomAD_AC_genome:14886,GnomAD_AN_genome:30880,GnomAD:0.5037;SGVEP=CUL3|-|NM_001257197|8|c.1179+48T>C|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,14,13 2 227661395 153674341 TTGC T 157 low_variant_fraction VARTYPE=1;BGN=0.000865644;ARL=225;DER=102;DEA=75;QR=36;QA=109;PBP=82;PBM=81;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs138975702,g1000:0.0140,ExAC:0.0100,GnomAD_AC_exome:1237,GnomAD_AN_exome:233612,GnomAD_AC_genome:285,GnomAD_AN_genome:30636,GnomAD:0.0058;SGVEP=IRS1|-|NM_005544|1|c.2057_2059del|p.(Ser686del)|inframe_3 GT:DP:AD:DP4 0/1:145:134,10:66,68,5,5 2 227872182 153685408 G A 1341 PASS VARTYPE=1;BGN=0.00104216;ARL=229;DER=102;DEA=121;QR=36;QA=37;PBP=648;PBM=705;TYPE=SNP;DBXREF=dbSNP:rs2228557,g1000:0.5144,esp5400:0.4545,ExAC:0.4660,clinvar:rs2228557,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:115143,GnomAD_AN_exome:246098,GnomAD_AC_genome:15008,GnomAD_AN_genome:30892,GnomAD:0.4699;SGVEP=COL4A4|-|NM_000092|48|c.4932C>T|p.(Phe1644:)|synonymous GT:DP:AD:DP4 0/1:132:74,58:38,36,28,30 2 227872995 153685536 T C 1092 PASS VARTYPE=1;BGN=0.00104216;ARL=213;DER=72;DEA=63;QR=37;QA=37;PBP=513;PBM=589;TYPE=SNP;DBXREF=dbSNP:rs2228555,g1000:0.6406,esp5400:0.5858,ExAC:0.5600,clinvar:rs2228555,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:136886,GnomAD_AN_exome:245332,GnomAD_AC_genome:17915,GnomAD_AN_genome:30866,GnomAD:0.5605;SGVEP=COL4A4|-|NM_000092|47|c.4548A>G|p.(Val1516:)|synonymous GT:DP:AD:DP4 0/1:106:59,47:29,30,22,25 2 227873028 153685544 A G 468 off_target VARTYPE=1;BGN=0.00104216;ARL=229;DER=70;DEA=60;QR=37;QA=37;PBP=203;PBM=272;TYPE=SNP;DBXREF=dbSNP:rs13419076,g1000:0.5156,esp5400:0.4486,ExAC:0.4640,clinvar:rs13419076,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:113883,GnomAD_AN_exome:243652,GnomAD_AC_genome:15002,GnomAD_AN_genome:30856,GnomAD:0.4695;SGVEP=COL4A4|-|NM_000092|47|c.4523-8T>C|.|intronic GT:DP:AD:DP4 0/1:59:38,21:17,21,9,12 2 227876807 153685794 A C 255 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=252;DER=22;DEA=64;QR=36;QA=37;PBP=156;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs142958995,g1000:0.0032,GnomAD_AC_genome:151,GnomAD_AN_genome:30956,GnomAD:0.0049;SGVEP=COL4A4|-|NM_000092|45|c.4333+90T>G|.|intronic GT:DP:AD:DP4 0/1:17:7,10:4,3,6,4 2 227877037 153685840 G A 1192 off_target VARTYPE=1;BGN=0.00125468;ARL=211;DER=55;DEA=62;QR=36;QA=36;PBP=561;PBM=641;TYPE=SNP;DBXREF=dbSNP:rs10188770,g1000:0.5206,esp5400:0.4646,ExAC:0.4760,GnomAD_AC_exome:117244,GnomAD_AN_exome:245130,GnomAD_AC_genome:14992,GnomAD_AN_genome:30428,GnomAD:0.4799;SGVEP=COL4A4|-|NM_000092|45|c.4217-24C>T|.|intronic GT:DP:AD:DP4 0/1:81:32,49:16,16,23,26 2 227886773 153686381 A G 681 PASS VARTYPE=1;BGN=0.000865644;ARL=215;DER=59;DEA=86;QR=36;QA=38;PBP=355;PBM=335;TYPE=SNP;DBXREF=dbSNP:rs3752895,g1000:0.5262,esp5400:0.4686,ExAC:0.4760,PhyloP:1.5250,SIFT:0.3290,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:5.6300,clinvar:rs3752895,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:117528,GnomAD_AN_exome:245974,GnomAD_AC_genome:15449,GnomAD_AN_genome:30892,GnomAD:0.4803;SGVEP=COL4A4|-|NM_000092|44|c.4207T>C|p.(Ser1403Pro)|missense GT:DP:AD:DP4 0/1:74:45,29:24,21,15,14 2 227886925 153686420 C T 440 off_target VARTYPE=1;BGN=0.00125468;ARL=234;DER=65;DEA=60;QR=36;QA=36;PBP=209;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs3752896,g1000:0.4485,esp5400:0.4024,ExAC:0.4540,GnomAD_AC_exome:112372,GnomAD_AN_exome:243924,GnomAD_AC_genome:13425,GnomAD_AN_genome:30866,GnomAD:0.4578;SGVEP=COL4A4|-|NM_000092|44|c.4091-36G>A|.|intronic GT:DP:AD:DP4 0/1:40:21,19:11,10,9,10 2 227892619 153686753 C T 575 PASS VARTYPE=1;BGN=0.00104216;ARL=201;DER=41;DEA=70;QR=36;QA=37;PBP=304;PBM=278;TYPE=SNP;DBXREF=dbSNP:rs2228556,g1000:0.4918,esp5400:0.4451,ExAC:0.4690,clinvar:rs2228556,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:116066,GnomAD_AN_exome:245746,GnomAD_AC_genome:14685,GnomAD_AN_genome:30852,GnomAD:0.4727;SGVEP=COL4A4|-|NM_000092|42|c.4080G>A|p.(Pro1360:)|synonymous GT:DP:AD:DP4 0/1:61:36,25:18,18,13,12 2 227892720 141376 C T 588 PASS VARTYPE=1;BGN=0.00104216;ARL=202;DER=60;DEA=52;QR=37;QA=37;PBP=272;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs2229813,g1000:0.4930,esp5400:0.4448,ExAC:0.4610,PhyloP:-0.1320,SIFT:0.5680,PolyPhen2:0.0040,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:1.6000,clinvar:rs2229813,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:111348,GnomAD_AN_exome:236660,GnomAD_AC_genome:14547,GnomAD_AN_genome:30642,GnomAD:0.4710;SGVEP=COL4A4|-|NM_000092|42|c.3979G>A|p.(Val1327Met)|missense GT:DP:AD:DP4 0/1:68:42,26:21,21,12,14 2 227895125 153686871 A G 572 off_target VARTYPE=1;BGN=0.00104216;ARL=245;DER=81;DEA=53;QR=37;QA=37;PBP=330;PBM=248;TYPE=SNP;DBXREF=dbSNP:rs1917127,g1000:0.4966,esp5400:0.4444,ExAC:0.4720,GnomAD_AC_exome:116020,GnomAD_AN_exome:244180,GnomAD_AC_genome:14713,GnomAD_AN_genome:30908,GnomAD:0.4752;SGVEP=COL4A4|-|NM_000092|41|c.3973+34T>C|.|intronic GT:DP:AD:DP4 0/1:41:18,23:9,9,13,10 2 227896652 153686991 C G 511 off_target VARTYPE=1;BGN=0.00104216;ARL=219;DER=61;DEA=47;QR=36;QA=37;PBP=257;PBM=261;TYPE=SNP;DBXREF=dbSNP:rs13423714,g1000:0.4960,esp5400:0.4403,ExAC:0.4700,clinvar:rs13423714,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:115317,GnomAD_AN_exome:243320,GnomAD_AC_genome:14640,GnomAD_AN_genome:30812,GnomAD:0.4741;SGVEP=COL4A4|-|NM_000092|40|c.3817+9G>C|.|intronic GT:DP:AD:DP4 0/1:52:30,22:16,14,11,11 2 227912331 153687934 G A 329 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=280;DER=122;DEA=64;QR=34;QA=38;PBP=164;PBM=169;TYPE=SNP;DBXREF=dbSNP:rs2272200,g1000:0.5531,GnomAD_AC_genome:15881,GnomAD_AN_genome:30832,GnomAD:0.5151;SGVEP=COL4A4|-|NM_000092|35|c.3215-66C>T|.|intronic GT:DP:AD:DP4 0/1:17:5,12:3,2,6,6 2 227915601 153688105 G T 207 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=281;DER=21;DEA=31;QR=38;QA=37;PBP=132;PBM=79;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2272204,g1000:0.5473,GnomAD_AC_genome:15714,GnomAD_AN_genome:30876,GnomAD:0.5089;SGVEP=COL4A4|-|NM_000092|33|c.3150+92C>A|.|intronic GT:DP:AD:DP4 0/1:13:5,8:3,2,5,3 2 227915832 153688141 G A 712 PASS VARTYPE=1;BGN=0.00104216;ARL=235;DER=72;DEA=93;QR=37;QA=37;PBP=371;PBM=350;TYPE=SNP;DBXREF=dbSNP:rs1800517,g1000:0.5473,esp5400:0.5159,ExAC:0.5200,PhyloP:1.3360,SIFT:1.0000,PolyPhen2:0.2000,PolyPhen2_HumDiv:0.6340,MutationTaster:1.0000,GERP:4.6400,clinvar:rs1800517,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:128162,GnomAD_AN_exome:246196,GnomAD_AC_genome:15740,GnomAD_AN_genome:30886,GnomAD:0.5193;SGVEP=COL4A4|-|NM_000092|33|c.3011C>T|p.(Pro1004Leu)|missense GT:DP:AD:DP4 0/1:103:70,33:36,34,17,16 2 227922104 153688584 T C 353 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=280;DER=91;DEA=66;QR=38;QA=38;PBP=193;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs7567789,g1000:0.6665,esp5400:0.6536,ExAC:0.5760,GnomAD_AC_exome:99805,GnomAD_AN_exome:157372,GnomAD_AC_genome:19317,GnomAD_AN_genome:30676,GnomAD:0.6335;SGVEP=COL4A4|-|NM_000092|29|c.2545+51A>G|.|intronic GT:DP:AD:DP4 0/1:19:6,13:3,3,7,6 2 227922109 153688588 T A 362 off_target VARTYPE=1;BGN=0.00104216;ARL=270;DER=73;DEA=66;QR=37;QA=37;PBP=183;PBM=183;TYPE=SNP;DBXREF=dbSNP:rs7567796,g1000:0.6338,esp5400:0.6188,ExAC:0.5570,GnomAD_AC_exome:102479,GnomAD_AN_exome:163832,GnomAD_AC_genome:18372,GnomAD_AN_genome:30674,GnomAD:0.6213;SGVEP=COL4A4|-|NM_000092|29|c.2545+46A>T|.|intronic GT:DP:AD:DP4 0/1:22:8,14:4,4,7,7 2 227973410 153691742 C A 395 off_target VARTYPE=1;BGN=0.00104216;ARL=244;DER=122;DEA=67;QR=36;QA=37;PBP=200;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs55741079,g1000:0.3391,esp5400:0.4886,GnomAD_AC_genome:14251,GnomAD_AN_genome:30912,GnomAD:0.4610;SGVEP=COL4A4|-|NM_000092|12|c.694-72G>T|.|intronic GT:DP:AD:DP4 0/1:30:14,16:7,7,8,8 2 227973623 153691768 A G 714 off_target VARTYPE=1;BGN=0.00104216;ARL=204;DER=55;DEA=49;QR=37;QA=37;PBP=389;PBM=333;TYPE=SNP;DBXREF=dbSNP:rs12475686,g1000:0.6004,esp5400:0.6249,ExAC:0.6050,GnomAD_AC_exome:141772,GnomAD_AN_exome:234562,GnomAD_AC_genome:19302,GnomAD_AN_genome:30890,GnomAD:0.6068;SGVEP=COL4A4|-|NM_000092|11|c.658-39T>C|.|intronic GT:DP:AD:DP4 0/1:63:33,30:16,17,16,14 2 227979533 153692213 A C 141 low_coverage;off_target VARTYPE=1;BGN=0.00181855;ARL=261;DER=11;DEA=13;QR=36;QA=34;PBP=72;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12465531,g1000:0.6422,GnomAD_AC_genome:15902,GnomAD_AN_genome:30896,GnomAD:0.5147;SGVEP=COL4A4|-|NM_000092|8|c.490-121T>G|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 2 228102723 153699145 G C 190 PASS VARTYPE=1;BGN=0.000865644;ARL=224;DER=110;DEA=99;QR=35;QA=38;PBP=97;PBM=97;SP=0;TYPE=SNP;DBXREF=dbSNP:rs13424243,g1000:0.2302,esp5400:0.3529,ExAC:0.2880,PhyloP:1.3150,SIFT:0.9990,PolyPhen2:0.9970,PolyPhen2_HumDiv:1.0000,LRT:0.9960,MutationTaster:0.0000,GERP:4.3100,clinvar:rs13424243,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:69935,GnomAD_AN_exome:246178,GnomAD_AC_genome:9646,GnomAD_AN_genome:30850,GnomAD:0.2873;SGVEP=COL4A3|+|NM_000091|2|c.127G>C|p.(Gly43Arg)|missense GT:DP:AD:DP4 0/1:22:14,8:7,7,4,4 2 228102752 153699153 C A 297 off_target VARTYPE=1;BGN=0.00125468;ARL=224;DER=69;DEA=76;QR=38;QA=36;PBP=178;PBM=124;TYPE=SNP;DBXREF=dbSNP:rs1882435,g1000:0.3051,esp5400:0.2850,ExAC:0.3080,clinvar:rs1882435,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:76120,GnomAD_AN_exome:246134,GnomAD_AC_genome:9192,GnomAD_AN_genome:30824,GnomAD:0.3080;SGVEP=COL4A3|+|NM_000091|2|c.144+12C>A|.|intronic GT:DP:AD:DP4 0/1:20:8,12:4,4,7,5 2 228109626 153699605 T TG 388 off_target VARTYPE=1;BGN=0.00218938;ARL=212;DER=52;DEA=58;QR=38;QA=33;PBP=196;PBM=196;TYPE=INDEL;DBXREF=dbSNP:rs113428834,g1000:0.7492,GnomAD_AC_exome:156518,GnomAD_AN_exome:216176,GnomAD_AC_genome:22717,GnomAD_AN_genome:29778,GnomAD:0.7287;SGVEP=COL4A3|+|NM_000091|5|c.280-41_280-40insG|.|intronic GT:DP:AD:DP4 1/1:20:2,16:1,1,8,8 2 228109784 153699637 C T 328 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=209;DEA=40;QA=37;PBP=149;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs6750210,g1000:0.7480,esp5400:0.7579,GnomAD_AC_genome:22533,GnomAD_AN_genome:30848,GnomAD:0.7305;SGVEP=COL4A3|+|NM_000091|5|c.324+73C>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 2 228111435 153699740 T C 328 low_coverage VARTYPE=1;BGN=0.00104216;ARL=227;DEA=113;QA=37;PBP=179;PBM=149;TYPE=SNP;DBXREF=dbSNP:rs10178458,g1000:0.7967,esp5400:0.7742,ExAC:0.8300,PhyloP:0.6970,SIFT:0.3970,PolyPhen2:0.0110,PolyPhen2_HumDiv:0.0420,LRT:0.9290,MutationTaster:0.6200,GERP:3.6200,clinvar:rs10178458,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:205041,GnomAD_AN_exome:245874,GnomAD_AC_genome:24107,GnomAD_AN_genome:30886,GnomAD:0.8280;SGVEP=COL4A3|+|NM_000091|7|c.422T>C|p.(Leu141Pro)|missense GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 2 228112186 153699815 A G 840 off_target VARTYPE=1;BGN=0.00125468;ARL=227;DEA=38;QA=36;PBP=435;PBM=406;TYPE=SNP;DBXREF=dbSNP:rs4321358,g1000:0.9894,esp5400:0.9756,GnomAD_AC_genome:30368,GnomAD_AN_genome:30946,GnomAD:0.9813;SGVEP=COL4A3|+|NM_000091|8|c.442-88A>G|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,15,14 2 228113175 153699898 A G 550 low_coverage VARTYPE=1;BGN=0.000865644;ARL=217;DEA=51;QA=38;PBP=275;PBM=275;TYPE=SNP;DBXREF=dbSNP:rs6436669,g1000:0.7963,esp5400:0.7735,ExAC:0.8300,PhyloP:0.0680,SIFT:0.1720,PolyPhen2:0.0110,PolyPhen2_HumDiv:0.0190,LRT:0.8360,MutationTaster:0.0000,GERP:1.2400,clinvar:rs6436669,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:205195,GnomAD_AN_exome:246014,GnomAD_AC_genome:24137,GnomAD_AN_genome:30914,GnomAD:0.8281;SGVEP=COL4A3|+|NM_000091|9|c.485A>G|p.(Glu162Gly)|missense GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 2 228118403 153700300 T G 609 off_target VARTYPE=1;BGN=0.00125468;ARL=218;DEA=62;QA=36;PBP=319;PBM=290;TYPE=SNP;DBXREF=dbSNP:rs12621551,g1000:0.7869,esp5400:0.7712,ExAC:0.8120,GnomAD_AC_exome:199538,GnomAD_AN_exome:244822,GnomAD_AC_genome:23983,GnomAD_AN_genome:30842,GnomAD:0.8108;SGVEP=COL4A3|+|NM_000091|13|c.765+49T>G|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,11,10 2 228128540 153700934 C T 1634 PASS VARTYPE=1;BGN=0.00104216;ARL=224;DEA=79;QA=37;PBP=833;PBM=804;TYPE=SNP;DBXREF=dbSNP:rs10205042,g1000:0.7676,esp5400:0.7157,ExAC:0.7640,clinvar:rs10205042,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:188522,GnomAD_AN_exome:245506,GnomAD_AC_genome:22927,GnomAD_AN_genome:30902,GnomAD:0.7650;SGVEP=COL4A3|+|NM_000091|21|c.1195C>T|p.(Leu399:)|synonymous GT:DP:AD:DP4 1/1:55:0,55:0,0,28,27 2 228135631 153701386 C T 366 PASS VARTYPE=1;BGN=0.000865644;ARL=202;DER=55;DEA=102;QR=37;QA=38;PBP=190;PBM=183;TYPE=SNP;DBXREF=dbSNP:rs28381984,g1000:0.4000,esp5400:0.3852,ExAC:0.4690,PhyloP:2.7400,SIFT:0.9950,PolyPhen2:1.0000,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.8000,clinvar:rs28381984,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:115412,GnomAD_AN_exome:245990,GnomAD_AC_genome:12251,GnomAD_AN_genome:30884,GnomAD:0.4611;SGVEP=COL4A3|+|NM_000091|25|c.1721C>T|p.(Pro574Leu)|missense GT:DP:AD:DP4 0/1:48:32,16:14,18,8,8 2 228145543 153701992 C T 337 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=238;DEA=36;QA=38;PBP=184;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs6436671,g1000:0.9101,GnomAD_AC_genome:28922,GnomAD_AN_genome:30970,GnomAD:0.9339;SGVEP=COL4A3|+|NM_000091|31|c.2375-66C>T|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 2 228149107 153702267 A G 673 off_target VARTYPE=1;BGN=0.000865644;ARL=236;DEA=55;QA=38;PBP=337;PBM=337;TYPE=SNP;DBXREF=dbSNP:rs6436672,g1000:0.8149,esp5400:0.8764,ExAC:0.8680,GnomAD_AC_exome:187528,GnomAD_AN_exome:212694,GnomAD_AC_genome:26855,GnomAD_AN_genome:30900,GnomAD:0.8801;SGVEP=COL4A3|+|NM_000091|34|c.2881+46A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 2 228159661 153702936 T G 127 low_coverage;off_target VARTYPE=1;BGN=0.00218938;ARL=195;DER=32;DEA=1;QR=32;QA=33;PBP=91;PBM=45;SP=0;TYPE=SNP;DBXREF=dbSNP:rs202211797,ExAC:0.0440;SGVEP=COL4A3|+|NM_000091|40|c.3419-19T>G|.|intronic GT:DP:AD:DP4 0/1:13:5,6:3,2,4,2 2 228169632 153703597 C T 125 low_coverage;off_target VARTYPE=1;BGN=0.00181855;ARL=226;DER=20;DEA=52;QR=38;QA=34;PBP=65;PBM=65;SP=0;TYPE=SNP;DBXREF=dbSNP:rs11680670,g1000:0.2690,GnomAD_AC_genome:8525,GnomAD_AN_genome:30894,GnomAD:0.2759;SGVEP=COL4A3|+|NM_000091|47|c.4154-69C>T|.|intronic GT:DP:AD:DP4 0/1:16:10,6:5,5,3,3 2 228194570 153705138 G A 358 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=228;DEA=40;QA=37;PBP=179;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs6706656,g1000:0.8399,esp5400:0.9057,GnomAD_AC_genome:26185,GnomAD_AN_genome:30588,GnomAD:0.8561;SGVEP=MFF|+|NM_001277061|3|c.38+71G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 228197368 153705384 A G 447 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=250;DEA=60;QA=37;PBP=209;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs4500938,g1000:0.8399,GnomAD_AC_genome:26332,GnomAD_AN_genome:30964,GnomAD:0.8504;SGVEP=MFF|+|NM_001277061|5|c.429+64A>G|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,7,8 2 228204929 153705781 C T 977 off_target VARTYPE=1;BGN=0.000865644;ARL=248;DEA=60;QA=38;PBP=459;PBM=520;TYPE=SNP;DBXREF=dbSNP:rs4420693,g1000:0.8397,GnomAD_AC_genome:26322,GnomAD_AN_genome:30942,GnomAD:0.8507;SGVEP=MFF|+|NM_001277061|6|c.430-79C>T|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,15,17 2 228204982 153705789 C T 2077 off_target VARTYPE=1;BGN=0.00104216;ARL=226;DEA=63;QA=37;PBP=982;PBM=1100;TYPE=SNP;DBXREF=dbSNP:rs4442987,g1000:0.8397,esp5400:0.8598,ExAC:0.9040,GnomAD_AC_exome:221838,GnomAD_AN_exome:244488,GnomAD_AC_genome:26306,GnomAD_AN_genome:30930,GnomAD:0.9010;SGVEP=MFF|+|NM_001277061|6|c.430-26C>T|.|intronic GT:DP:AD:DP4 1/1:70:0,70:0,0,33,37 2 228207625 153705992 G A 673 off_target VARTYPE=1;BGN=0.000865644;ARL=229;DEA=44;QA=38;PBP=337;PBM=337;TYPE=SNP;DBXREF=dbSNP:rs6738078,g1000:0.7304,GnomAD_AC_genome:21839,GnomAD_AN_genome:30824,GnomAD:0.7085;SGVEP=MFF|+|NM_001277061|7|c.593+90G>A|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 2 228220528 153706691 T C 484 off_target VARTYPE=1;BGN=0.00104216;ARL=226;DER=63;DEA=58;QR=38;QA=37;PBP=245;PBM=245;TYPE=SNP;DBXREF=dbSNP:rs12478005,g1000:0.3357,esp5400:0.3053,ExAC:0.3450,GnomAD_AC_exome:82697,GnomAD_AN_exome:233194,GnomAD_AC_genome:9969,GnomAD_AN_genome:30896,GnomAD:0.3509;SGVEP=MFF|+|NM_001277061|10|c.897+51T>C|.|intronic GT:DP:AD:DP4 0/1:40:20,20:10,10,10,10 2 228553070 153725271 G A 462 off_target VARTYPE=1;BGN=0.00125468;ARL=250;DER=79;DEA=83;QR=36;QA=36;PBP=247;PBM=220;TYPE=SNP;DBXREF=dbSNP:rs73997321,g1000:0.0373,esp5400:0.0430,ExAC:0.0410,GnomAD_AC_exome:9651,GnomAD_AN_exome:236918,GnomAD_AC_genome:1241,GnomAD_AN_genome:30960,GnomAD:0.0407;SGVEP=SLC19A3|-|NM_025243|5|c.1173-47C>T|.|intronic GT:DP:AD:DP4 0/1:33:14,19:7,7,10,9 2 228560800 141413 GAAAAAAAA GAAAAAAA 590 PASS VARTYPE=1;BGN=0.061712;ARL=231;DER=8;DEA=71;QR=36;QA=36;HL=8;PBP=300;PBM=300;TYPE=INDEL;DBXREF=dbSNP:rs11334205,g1000:0.9413,ExAC:0.9830,clinvar:rs11334205,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:242272,GnomAD_AN_exome:245564,GnomAD_AC_genome:29327,GnomAD_AN_genome:30942,GnomAD:0.9823;SGVEP=SLC19A3|-|NM_025243|4|c.980-4del|.|intronic GT:DP:AD:DP4 1/1:62:6,56:3,3,28,28 2 230632268 153837039 G A 1752 PASS VARTYPE=1;BGN=0.00104216;ARL=224;DEA=58;QA=37;PBP=893;PBM=863;TYPE=SNP;DBXREF=dbSNP:rs6687,g1000:0.1472,esp5400:0.1644,ExAC:0.1390,GnomAD_AC_exome:33300,GnomAD_AN_exome:238268,GnomAD_AC_genome:4379,GnomAD_AN_genome:30956,GnomAD:0.1400;SGVEP=TRIP12|-|NM_001284214|42|c.*2C>T|.|3'UTR GT:DP:AD:DP4 1/1:59:0,59:0,0,30,29 2 230655733 153838469 C T 261 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=268;DEA=23;QA=36;PBP=145;PBM=116;TYPE=SNP;DBXREF=dbSNP:rs722268,g1000:0.9659,GnomAD_AC_genome:28419,GnomAD_AN_genome:30964,GnomAD:0.9178;SGVEP=TRIP12|-|NM_001284214|30|c.4462+107G>A|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,5,4 2 230668858 153839391 T C 1723 PASS VARTYPE=1;BGN=0.00104216;ARL=231;DEA=100;QA=37;PBP=863;PBM=863;TYPE=SNP;DBXREF=dbSNP:rs13018957,g1000:0.3508,esp5400:0.3914,ExAC:0.4260,GnomAD_AC_exome:106024,GnomAD_AN_exome:246140,GnomAD_AC_genome:11725,GnomAD_AN_genome:30884,GnomAD:0.4250;SGVEP=TRIP12|-|NM_001284214|19|c.2655A>G|p.(Thr885:)|synonymous GT:DP:AD:DP4 1/1:58:0,58:0,0,29,29 2 230668968 153839426 G A 744 off_target VARTYPE=1;BGN=0.00104216;ARL=242;DEA=49;QA=37;PBP=328;PBM=417;TYPE=SNP;DBXREF=dbSNP:rs4972915,g1000:0.8155,esp5400:0.8185,ExAC:0.7910,GnomAD_AC_exome:182129,GnomAD_AN_exome:230612,GnomAD_AC_genome:24978,GnomAD_AN_genome:30912,GnomAD:0.7919;SGVEP=TRIP12|-|NM_001284214|19|c.2570-25C>T|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,11,14 2 230668982 153839429 T G 435 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=239;DEA=37;QA=36;PBP=174;PBM=261;TYPE=SNP;DBXREF=dbSNP:rs4973229,g1000:0.3494,esp5400:0.3712,ExAC:0.4210,GnomAD_AC_exome:88731,GnomAD_AN_exome:209874,GnomAD_AC_genome:11685,GnomAD_AN_genome:30834,GnomAD:0.4172;SGVEP=TRIP12|-|NM_001284214|19|c.2570-39A>C|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,6,9 2 231035575 153858946 A G 528 off_target VARTYPE=1;BGN=0.000865644;ARL=269;DER=41;DEA=46;QR=37;QA=38;PBP=267;PBM=267;TYPE=SNP;DBXREF=dbSNP:rs9784019,g1000:0.0795,GnomAD_AC_genome:3321,GnomAD_AN_genome:30926,GnomAD:0.1074;SGVEP=SP110|-|NM_004509|17|c.1816-98T>C|.|intronic GT:DP:AD:DP4 0/1:32:12,20:6,6,10,10 2 231035589 153858948 T C 465 off_target VARTYPE=1;BGN=0.00104216;ARL=273;DER=33;DEA=37;QR=36;QA=37;PBP=240;PBM=231;TYPE=SNP;DBXREF=dbSNP:rs9783992,g1000:0.0795,GnomAD_AC_genome:3320,GnomAD_AN_genome:30922,GnomAD:0.1074;SGVEP=SP110|-|NM_004509|17|c.1816-112A>G|.|intronic GT:DP:AD:DP4 0/1:28:10,18:4,6,9,9 2 231036754 153859037 A G 170 off_target VARTYPE=1;BGN=0.000865644;ARL=241;DER=73;DEA=107;QR=37;QA=38;PBP=88;PBM=88;SP=0;TYPE=SNP;DBXREF=dbSNP:rs34897866,g1000:0.0789,esp5400:0.1148,ExAC:0.1000,GnomAD_AC_exome:24032,GnomAD_AN_exome:245932,GnomAD_AC_genome:3328,GnomAD_AN_genome:30952,GnomAD:0.0988;SGVEP=SP110|-|NM_004509|16|c.1815+28T>C|.|intronic GT:DP:AD:DP4 0/1:36:28,8:14,14,4,4 2 231036768 153859044 T C 210 off_target VARTYPE=1;BGN=0.000865644;ARL=235;DER=70;DEA=98;QR=37;QA=38;PBP=132;PBM=84;SP=1;TYPE=SNP;DBXREF=dbSNP:rs34034766,g1000:0.0789,esp5400:0.1145,ExAC:0.1000,clinvar:rs34034766,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:24033,GnomAD_AN_exome:246016,GnomAD_AC_genome:3328,GnomAD_AN_genome:30952,GnomAD:0.0988;SGVEP=SP110|-|NM_004509|16|c.1815+14A>G|.|intronic GT:DP:AD:DP4 0/1:46:36,10:18,18,6,4 2 231036866 153859058 G A 466 PASS VARTYPE=1;BGN=0.00104216;ARL=236;DER=89;DEA=118;QR=37;QA=37;PBP=276;PBM=198;TYPE=SNP;DBXREF=dbSNP:rs13018234,g1000:0.0681,esp5400:0.1056,ExAC:0.0970,clinvar:rs13018234,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:23425,GnomAD_AN_exome:246112,GnomAD_AC_genome:3080,GnomAD_AN_genome:30960,GnomAD:0.0957;SGVEP=SP110|-|NM_004509|16|c.1731C>T|p.(Cys577:)|synonymous GT:DP:AD:DP4 0/1:60:39,21:19,20,12,9 2 231037481 153859102 T G 327 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=273;DER=61;DEA=60;QR=38;QA=35;PBP=177;PBM=155;TYPE=SNP;DBXREF=dbSNP:rs12995739,g1000:0.0789,GnomAD_AC_genome:3325,GnomAD_AN_genome:30906,GnomAD:0.1076;SGVEP=SP110|-|NM_004509|15|c.1706+79A>C|.|intronic GT:DP:AD:DP4 0/1:18:5,13:3,2,7,6 2 231042276 153859450 A G 2785 PASS VARTYPE=1;BGN=0.00104216;ARL=229;DEA=63;QA=37;PBP=1427;PBM=1367;TYPE=SNP;DBXREF=dbSNP:rs1135791,g1000:0.3249,esp5400:0.4148,ExAC:0.4260,PhyloP:-0.4980,SIFT:0.8120,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.5170,MutationTaster:0.0000,GERP:-0.7820,clinvar:rs1135791,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:103459,GnomAD_AN_exome:246214,GnomAD_AC_genome:12127,GnomAD_AN_genome:30894,GnomAD:0.4171;SGVEP=SP110|-|NM_001185015|15|c.1586T>C|p.(Met529Thr)|missense GT:DP:AD:DP4 1/1:94:0,94:0,0,48,46 2 231050715 141441 A G 1811 PASS VARTYPE=1;BGN=0.00104216;ARL=203;DEA=47;QA=37;PBP=952;PBM=863;TYPE=SNP;DBXREF=dbSNP:rs3948464,g1000:0.9040,esp5400:0.8634,ExAC:0.8870,PhyloP:-0.8960,SIFT:0.8430,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.3670,MutationTaster:0.0000,GERP:-1.7700,clinvar:rs3948464,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:218976,GnomAD_AN_exome:246242,GnomAD_AC_genome:26945,GnomAD_AN_genome:30930,GnomAD:0.8873;SGVEP=SP110|-|NM_001185015|12|c.1292T>C|p.(Leu431Ser)|missense GT:DP:AD:DP4 1/1:61:0,61:0,0,32,29 2 231072709 153861134 C T 159 PASS VARTYPE=1;BGN=0.000865644;ARL=206;DER=87;DEA=60;QR=36;QA=38;PBP=96;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1365776,g1000:0.8025,esp5400:0.7015,ExAC:0.6650,PhyloP:-0.2890,SIFT:0.8440,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.1630,MutationTaster:0.0000,GERP:-0.1420,clinvar:rs1365776,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:155507,GnomAD_AN_exome:226828,GnomAD_AC_genome:21823,GnomAD_AN_genome:30932,GnomAD:0.6880;SGVEP=SP110|-|NM_001185015|9|c.913G>A|p.(Gly305Arg)|missense GT:DP:AD:DP4 0/1:24:17,7:8,9,4,3 2 231076289 153861347 T G 428 off_target VARTYPE=1;BGN=0.00104216;ARL=218;DER=50;DEA=44;QR=37;QA=37;PBP=192;PBM=243;TYPE=SNP;DBXREF=dbSNP:rs3820974,g1000:0.5417,esp5400:0.4723,ExAC:0.4780,GnomAD_AC_exome:120132,GnomAD_AN_exome:245528,GnomAD_AC_genome:14778,GnomAD_AN_genome:30862,GnomAD:0.4881;SGVEP=SP110|-|NM_001185015|7|c.686-21A>C|.|intronic GT:DP:AD:DP4 0/1:39:21,18:10,11,8,10 2 231077725 153861510 A G 1190 PASS VARTYPE=1;BGN=0.00104216;ARL=244;DER=83;DEA=63;QR=38;QA=37;PBP=494;PBM=700;TYPE=SNP;DBXREF=dbSNP:rs1129411,g1000:0.9511,esp5400:0.9165,ExAC:0.9090,PhyloP:-0.4300,SIFT:0.6440,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0030,LRT:0.1030,MutationTaster:0.0000,GERP:-0.8590,clinvar:rs1129411,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:221651,GnomAD_AN_exome:243692,GnomAD_AC_genome:28209,GnomAD_AN_genome:30876,GnomAD:0.9100;SGVEP=SP110|-|NM_001185015|5|c.352T>C|p.(Trp118Arg)|missense GT:DP:AD:DP4 1/1:43:2,41:1,1,17,24 2 231081405 153861707 T C 252 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=265;DER=7;DEA=71;QR=36;QA=35;PBP=150;PBM=106;TYPE=SNP;DBXREF=dbSNP:rs7580912,g1000:0.3552,GnomAD_AC_genome:11129,GnomAD_AN_genome:30830,GnomAD:0.3610;SGVEP=SP110|-|NM_001185015|3|c.165+91A>G|.|intronic GT:DP:AD:DP4 0/1:14:4,10:3,1,6,4 2 232260537 153928206 T G 956 off_target VARTYPE=1;BGN=0.00125468;ARL=213;DEA=99;QA=36;PBP=435;PBM=522;TYPE=SNP;DBXREF=dbSNP:rs4972989,g1000:0.8215,esp5400:0.7066,GnomAD_AC_genome:23135,GnomAD_AN_genome:28952,GnomAD:0.7991;SGVEP=B3GNT7|+|NM_145236|1|c.11+12T>G|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,15,18 2 232263127 153928466 G A 1450 PASS VARTYPE=1;BGN=0.00125468;ARL=231;DER=107;DEA=103;QR=36;QA=36;PBP=688;PBM=774;TYPE=SNP;DBXREF=dbSNP:rs2290130,g1000:0.2332,esp5400:0.2109,ExAC:0.2460,PhyloP:0.9880,SIFT:0.9480,PolyPhen2:0.2970,PolyPhen2_HumDiv:0.9540,LRT:0.9950,MutationTaster:0.0000,GERP:3.8400,GnomAD_AC_exome:60534,GnomAD_AN_exome:246182,GnomAD_AC_genome:7166,GnomAD_AN_genome:30866,GnomAD:0.2444;SGVEP=B3GNT7|+|NM_145236|2|c.697G>A|p.(Val233Ile)|missense GT:DP:AD:DP4 0/1:109:47,61:24,23,29,32 2 232790053 153960653 C T 956 off_target VARTYPE=1;BGN=0.00125468;ARL=235;DEA=48;QA=36;PBP=609;PBM=348;TYPE=SNP;DBXREF=dbSNP:rs5268,g1000:0.4195,GnomAD_AC_genome:17423,GnomAD_AN_genome:30850,GnomAD:0.5648;SGVEP=NPPC|-|NM_024409|2|c.*20+62G>A|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,21,12 2 233075081 153973905 C T 250 PASS VARTYPE=1;BGN=0.00104216;ARL=217;DER=74;DEA=104;QR=37;QA=37;PBP=142;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs17272089,g1000:0.0154,esp5400:0.0244,ExAC:0.0220,clinvar:rs17272089,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:5302,GnomAD_AN_exome:246198,GnomAD_AC_genome:429,GnomAD_AN_genome:30970,GnomAD:0.0207;SGVEP=DIS3L2|+|NM_001257281|10|c.1170C>T|p.(Leu390:)|synonymous GT:DP:AD:DP4 0/1:30:19,11:9,10,6,5 2 233199346 141481 T C 362 low_variant_fraction VARTYPE=1;BGN=0.000865644;ARL=214;DER=71;DEA=65;QR=36;QA=38;PBP=174;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs763103187,esp5400:0.0089,PhyloP:-1.2510,MutationTaster:1.0000,GERP:-5.1200,clinvar:rs763103187,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=DIS3L2|+|NM_152383|19|c.2295T>C|p.(Ser765:)|synonymous GT:DP:AD:DP4 0/1:198:177,21:90,87,10,11 2 233199380 141482 A G 373 low_variant_fraction VARTYPE=1;BGN=0.000865644;ARL=207;DER=93;DEA=94;QR=36;QA=38;PBP=169;PBM=212;TYPE=SNP;DBXREF=dbSNP:rs2697798,PhyloP:0.8560,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:3.1500,clinvar:rs2697798,CLNSIG:Uncertain_significance,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=DIS3L2|+|NM_152383|19|c.2329A>G|p.(Ile777Val)|missense GT:DP:AD:DP4 0/1:221:199,22:101,98,10,12 2 233385202 153993190 C T 154 low_coverage;off_target VARTYPE=1;BGN=0.00181855;ARL=250;DER=45;DEA=45;QR=38;QA=34;PBP=67;PBM=91;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2741294,g1000:0.3067,GnomAD_AC_genome:9245,GnomAD_AN_genome:30860,GnomAD:0.2996;SGVEP=PRSS56|+|NM_001195129|1|c.-107C>T|.|5'UTR GT:DP:AD:DP4 0/1:15:8,7:4,4,3,4 2 233385396 153993206 G A 997 PASS VARTYPE=1;BGN=0.000865644;ARL=214;DER=89;DEA=67;QR=37;QA=38;PBP=479;PBM=528;TYPE=SNP;DBXREF=dbSNP:rs1550094,g1000:0.6657,ExAC:0.6090,GnomAD_AC_exome:92489,GnomAD_AN_exome:128886,GnomAD_AC_genome:20308,GnomAD_AN_genome:30834,GnomAD:0.7062;SGVEP=PRSS56|+|NM_001195129|1|c.88G>A|p.(Ala30Thr)|missense GT:DP:AD:DP4 0/1:78:38,40:18,20,19,21 2 233385968 153993243 C T 556 off_target VARTYPE=1;BGN=0.00151053;ARL=233;DER=33;DEA=64;QR=36;QA=35;PBP=315;PBM=249;TYPE=SNP;DBXREF=dbSNP:rs62193795,g1000:0.0697,GnomAD_AC_genome:2550,GnomAD_AN_genome:30918,GnomAD:0.0825;SGVEP=PRSS56|+|NM_001195129|2|c.98-63C>T|.|intronic GT:DP:AD:DP4 0/1:76:49,27:26,23,15,12 2 233386229 153993272 T C 1302 off_target VARTYPE=1;BGN=0.00125468;ARL=247;DEA=50;QA=36;PBP=580;PBM=724;TYPE=SNP;DBXREF=dbSNP:rs2853444,g1000:0.8592,GnomAD_AC_genome:25487,GnomAD_AN_genome:30910,GnomAD:0.8246;SGVEP=PRSS56|+|NM_001195129|2|c.205+91T>C|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,20,25 2 233386432 153993283 G A 140 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=248;DER=10;DEA=44;QR=37;QA=35;PBP=72;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs11902035,g1000:0.1240,GnomAD_AC_genome:3571,GnomAD_AN_genome:30920,GnomAD:0.1155;SGVEP=PRSS56|+|NM_001195129|3|c.206-94G>A|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 2 233386583 153993290 T C 364 off_target VARTYPE=1;BGN=0.000865644;ARL=218;DER=112;DEA=84;QR=37;QA=38;PBP=212;PBM=159;TYPE=SNP;DBXREF=dbSNP:rs2853445,g1000:0.4447,ExAC:0.3410,GnomAD_AC_exome:51962,GnomAD_AN_exome:129348,GnomAD_AC_genome:14463,GnomAD_AN_genome:30810,GnomAD:0.4147;SGVEP=PRSS56|+|NM_001195129|3|c.256+7T>C|.|intronic GT:DP:AD:DP4 0/1:49:33,16:16,17,9,7 2 233387635 153993359 A G 956 off_target VARTYPE=1;BGN=0.00125468;ARL=229;DEA=68;QA=36;PBP=493;PBM=464;TYPE=SNP;DBXREF=dbSNP:rs733603,g1000:0.8610,GnomAD_AC_genome:25590,GnomAD_AN_genome:30642,GnomAD:0.8351;SGVEP=PRSS56|+|NM_001195129|6|c.706+64A>G|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,17,16 2 233388813 153993452 T G 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=207;DEA=96;QA=37;PBP=1841;PBM=1930;TYPE=SNP;DBXREF=dbSNP:rs2741299,g1000:0.8616,ExAC:0.7670,GnomAD_AC_exome:93312,GnomAD_AN_exome:109546,GnomAD_AC_genome:25616,GnomAD_AN_genome:30876,GnomAD:0.8469;SGVEP=PRSS56|+|NM_001195129|10|c.1251T>G|p.(Pro417:)|synonymous GT:DP:AD:DP4 1/1:127:0,127:0,0,62,65 2 233389326 153993483 C T 224 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=278;DER=55;DEA=58;QR=37;QA=36;PBP=128;PBM=101;TYPE=SNP;DBXREF=dbSNP:rs2853446,g1000:0.4802,GnomAD_AC_genome:14200,GnomAD_AN_genome:30864,GnomAD:0.4601;SGVEP=PRSS56|+|NM_001195129|12|c.1415-122C>T|.|intronic GT:DP:AD:DP4 0/1:15:6,9:3,3,5,4 2 233389918 153993515 A G 1055 off_target VARTYPE=1;BGN=0.000865644;ARL=225;DER=50;DEA=86;QR=35;QA=38;PBP=573;PBM=492;TYPE=SNP;DBXREF=dbSNP:rs2853447,g1000:0.7077,ExAC:0.6090,GnomAD_AC_exome:56537,GnomAD_AN_exome:76718,GnomAD_AC_genome:21722,GnomAD_AN_genome:30792,GnomAD:0.7279;SGVEP=PRSS56|+|NM_001195129|13|c.1522-8A>G|.|intronic GT:DP:AD:DP4 0/1:70:29,41:15,14,22,19 2 233390937 141527 A G 347 PASS VARTYPE=1;BGN=0.00104216;ARL=215;DER=76;DEA=70;QR=35;QA=37;PBP=174;PBM=180;TYPE=SNP;DBXREF=dbSNP:rs2245601,g1000:0.4834,esp5400:0.4486,ExAC:0.4980,clinvar:rs2245601,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:123250,GnomAD_AN_exome:244844,GnomAD_AC_genome:14358,GnomAD_AN_genome:30696,GnomAD:0.4994;SGVEP=CHRND|+|NM_000751|1|c.12A>G|p.(Pro4:)|synonymous GT:DP:AD:DP4 0/1:52:36,16:20,16,8,8 2 233392268 153993785 C A 238 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=258;DER=10;DEA=36;QR=37;QA=36;PBP=109;PBM=132;TYPE=SNP;DBXREF=dbSNP:rs62193797,g1000:0.0497,GnomAD_AC_genome:1722,GnomAD_AN_genome:30930,GnomAD:0.0557;SGVEP=CHRND|+|NM_000751|3|c.243+113C>A|.|intronic GT:DP:AD:DP4 0/1:12:3,9:1,2,4,5 2 233396025 153994160 G A 1663 off_target VARTYPE=1;BGN=0.00104216;ARL=236;DER=60;DEA=66;QR=36;QA=37;PBP=911;PBM=765;TYPE=SNP;DBXREF=dbSNP:rs41265125,g1000:0.0491,esp5400:0.0611,ExAC:0.0680,clinvar:rs41265125,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:16353,GnomAD_AN_exome:232496,GnomAD_AC_genome:1717,GnomAD_AN_genome:25466,GnomAD:0.0700;SGVEP=CHRND|+|NM_000751|8|c.821-37G>A|.|intronic GT:DP:AD:DP4 0/1:123:55,68:30,25,37,31 2 233406204 153995146 C T 1323 PASS VARTYPE=1;BGN=0.00104216;ARL=231;DER=86;DEA=59;QR=36;QA=37;PBP=666;PBM=669;TYPE=SNP;DBXREF=dbSNP:rs143272752,g1000:0.0008,esp5400:0.0007,ExAC:0.0014,clinvar:rs143272752,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:394,GnomAD_AN_exome:246226,GnomAD_AC_genome:90,GnomAD_AN_genome:30924,GnomAD:0.0017;SGVEP=CHRNG|+|NM_005199|5|c.471C>T|p.(Phe157:)|synonymous GT:DP:AD:DP4 0/1:117:61,56:31,30,28,28 2 233407120 141563 C T 626 off_target VARTYPE=1;BGN=0.00125468;ARL=223;DER=82;DEA=77;QR=38;QA=36;PBP=301;PBM=333;TYPE=SNP;DBXREF=dbSNP:rs2853462,g1000:0.1711,esp5400:0.2051,ExAC:0.2130,clinvar:rs2853462,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:51167,GnomAD_AN_exome:242632,GnomAD_AC_genome:6763,GnomAD_AN_genome:30890,GnomAD:0.2118;SGVEP=CHRNG|+|NM_005199|6|c.507-13C>T|.|intronic GT:DP:AD:DP4 0/1:55:28,27:15,13,13,14 2 233407516 153995280 G C 811 off_target VARTYPE=1;BGN=0.00125468;ARL=256;DEA=57;QA=36;PBP=493;PBM=319;TYPE=SNP;DBXREF=dbSNP:rs2697782,g1000:0.3289,GnomAD_AC_genome:11392,GnomAD_AN_genome:30868,GnomAD:0.3691;SGVEP=CHRNG|+|NM_005199|7|c.605-76G>C|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,17,11 2 233408220 153995438 AGGGGGGG AGGGGGG 580 off_target VARTYPE=1;BGN=0.0352792;ARL=265;DER=25;DEA=100;QR=34;QA=33;HL=7;PBP=284;PBM=305;TYPE=INDEL;DBXREF=dbSNP:rs398091155,GnomAD_AC_genome:30230,GnomAD_AN_genome:30720,GnomAD:0.9840;SGVEP=CHRNG|+|NM_005199|9|c.921-68del|.|intronic GT:DP:AD:DP4 1/1:56:9,47:5,4,23,24 2 233408239 153995440 C G 1792 off_target VARTYPE=1;BGN=0.00125468;ARL=249;DEA=74;QA=36;PBP=898;PBM=898;TYPE=SNP;DBXREF=dbSNP:rs2573206,g1000:0.8622,GnomAD_AC_genome:25582,GnomAD_AN_genome:30730,GnomAD:0.8325;SGVEP=CHRNG|+|NM_005199|9|c.921-56C>G|.|intronic GT:DP:AD:DP4 1/1:62:0,62:0,0,31,31 2 233409013 153995550 G A 257 off_target VARTYPE=1;BGN=0.00104216;ARL=237;DER=56;DEA=39;QR=37;QA=37;PBP=144;PBM=118;TYPE=SNP;DBXREF=dbSNP:rs2250451,g1000:0.1717,GnomAD_AC_genome:6854,GnomAD_AN_genome:30908,GnomAD:0.2218;SGVEP=CHRNG|+|NM_005199|10|c.1036-64G>A|.|intronic GT:DP:AD:DP4 0/1:27:16,11:8,8,6,5 2 233641083 154008802 G C 714 off_target VARTYPE=1;BGN=0.00104216;ARL=244;DEA=74;QA=37;PBP=387;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs737027,g1000:0.6871,esp5400:0.6658,ExAC:0.6090,GnomAD_AC_exome:120813,GnomAD_AN_exome:187206,GnomAD_AC_genome:20295,GnomAD_AN_genome:30912,GnomAD:0.6469;SGVEP=GIGYF2|+|NM_001103146|9|c.533-10777G>C|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,13,11 2 233652137 154009439 TG TGG 407 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=279;DER=2;DEA=64;QR=36;QA=38;PBP=205;PBM=205;TYPE=INDEL;DBXREF=dbSNP:rs398043014,g1000:0.1134,GnomAD_AC_genome:5557,GnomAD_AN_genome:30920,GnomAD:0.1797;SGVEP=GIGYF2|+|NM_001103146|9|c.712+99dupG|.|intronic GT:DP:AD:DP4 1/1:16:2,14:1,1,7,7 2 233660704 154010026 T G 536 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=225;DEA=36;QA=37;PBP=298;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs2305139,g1000:0.1134,GnomAD_AC_genome:5561,GnomAD_AN_genome:30932,GnomAD:0.1798;SGVEP=GIGYF2|+|NM_001103146|14|c.1480-68T>G|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,10,8 2 233708806 154012691 A G 1959 PASS VARTYPE=1;BGN=0.00104216;ARL=211;DEA=67;QA=37;PBP=982;PBM=982;TYPE=SNP;DBXREF=dbSNP:rs3816334,g1000:0.6404,esp5400:0.6792,ExAC:0.6330,PhyloP:0.1850,SIFT:1.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:2.2900,GnomAD_AC_exome:153268,GnomAD_AN_exome:236166,GnomAD_AC_genome:21661,GnomAD_AN_genome:30858,GnomAD:0.6551;SGVEP=GIGYF2|+|NM_001103146|24|c.2940A>G|p.(Gln980:)|synonymous GT:DP:AD:DP4 1/1:66:0,66:0,0,33,33 2 233710713 154012872 G C 406 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=283;DEA=53;QA=36;PBP=145;PBM=261;TYPE=SNP;DBXREF=dbSNP:rs4973054,g1000:0.6224,GnomAD_AC_genome:21234,GnomAD_AN_genome:30886,GnomAD:0.6875;SGVEP=GIGYF2|+|NM_001103146|26|c.3460+117G>C|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,5,9 2 233711987 154012935 G A 464 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=270;DEA=50;QA=36;PBP=232;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs12328140,g1000:0.1132,GnomAD_AC_genome:5554,GnomAD_AN_genome:30926,GnomAD:0.1796;SGVEP=GIGYF2|+|NM_001103146|27|c.3461-71G>A|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 2 233712049 154012949 G A 1338 off_target VARTYPE=1;BGN=0.00104216;ARL=233;DEA=64;QA=37;PBP=685;PBM=655;TYPE=SNP;DBXREF=dbSNP:rs2305137,g1000:0.6052,esp5400:0.6429,ExAC:0.6350,GnomAD_AC_exome:157959,GnomAD_AN_exome:246186,GnomAD_AC_genome:20749,GnomAD_AN_genome:30900,GnomAD:0.6450;SGVEP=GIGYF2|+|NM_001103146|27|c.3461-9G>A|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,23,22 2 233712226 154013008 CACA C 800 PASS VARTYPE=1;BGN=0.000865644;ARL=205;DER=11;DEA=77;QR=36;QA=111;PBP=390;PBM=418;TYPE=INDEL;DBXREF=dbSNP:rs10555297,g1000:0.5591,ExAC:0.5490,GnomAD_AC_exome:125916,GnomAD_AN_exome:226488,GnomAD_AC_genome:18295,GnomAD_AN_genome:29826,GnomAD:0.5626;SGVEP=GIGYF2|+|NM_001103146|27|c.3630_3632del|p.(Gln1216del)|inframe_3 GT:DP:AD:DP4 0/1:53:20,31:10,10,15,16 2 233712227 154013007 A G 349 PASS VARTYPE=1;BGN=0.00151053;ARL=199;DEA=10;QA=35;PBP=226;PBM=254;TYPE=SNP;DBXREF=dbSNP:rs7563724,g1000:0.0982,esp5400:0.2068,GnomAD_AC_exome:1821,GnomAD_AN_exome:225532,GnomAD_AC_genome:8,GnomAD_AN_genome:30648,GnomAD:0.0071;SGVEP=GIGYF2|+|NM_001103146|27|c.3630A>G|p.(Pro1210:)|synonymous GT:DP:AD:DP4 0/1:50:0,17:0,0,8,9 2 233712248 154013032 G A 1008 PASS VARTYPE=1;BGN=0.000865644;ARL=208;DEA=58;QA=38;PBP=489;PBM=520;TYPE=SNP;DBXREF=dbSNP:rs12328151,g1000:0.1138,esp5400:0.1561,ExAC:0.1790,GnomAD_AC_exome:43756,GnomAD_AN_exome:233680,GnomAD_AC_genome:5516,GnomAD_AN_genome:30786,GnomAD:0.1863;SGVEP=GIGYF2|+|NM_001103146|27|c.3651G>A|p.(Pro1217:)|synonymous GT:DP:AD:DP4 1/1:33:0,33:0,0,16,17 2 233712296 154013046 G A 655 off_target VARTYPE=1;BGN=0.00104216;ARL=218;DEA=32;QA=37;PBP=298;PBM=358;TYPE=SNP;DBXREF=dbSNP:rs6437074,g1000:0.6400,esp5400:0.6842,ExAC:0.6440,GnomAD_AC_exome:157993,GnomAD_AN_exome:243100,GnomAD_AC_genome:21688,GnomAD_AN_genome:30890,GnomAD:0.6558;SGVEP=GIGYF2|+|NM_001103146|27|c.3684+15G>A|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,10,12 2 233721455 154013539 G A 1870 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DEA=73;QA=37;PBP=952;PBM=922;TYPE=SNP;DBXREF=dbSNP:rs1947105,g1000:0.6402,esp5400:0.6816,ExAC:0.6450,GnomAD_AC_exome:158214,GnomAD_AN_exome:243306,GnomAD_AC_genome:21690,GnomAD_AN_genome:30900,GnomAD:0.6561;SGVEP=GIGYF2|+|NM_001103146|29|c.3833-48G>A|.|intronic GT:DP:AD:DP4 1/1:63:0,63:0,0,32,31 2 233899126 154024730 C A 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=229;DEA=105;QA=37;PBP=2284;PBM=2136;TYPE=SNP;DBXREF=dbSNP:rs2233391,g1000:0.2320,esp5400:0.3867,ExAC:0.3760,PhyloP:0.0970,SIFT:0.4770,PolyPhen2:0.1020,PolyPhen2_HumDiv:0.0370,LRT:0.0750,MutationTaster:0.0000,GERP:0.6880,GnomAD_AC_exome:92199,GnomAD_AN_exome:245658,GnomAD_AC_genome:11867,GnomAD_AN_genome:30810,GnomAD:0.3764;SGVEP=NEU2|+|NM_005383|2|c.502C>A|p.(His168Asn)|missense GT:DP:AD:DP4 1/1:149:0,149:0,0,77,72 2 233987114 154030095 T C 261 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=287;DEA=56;QA=36;PBP=87;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs9288685,g1000:0.4275,GnomAD_AC_genome:15756,GnomAD_AN_genome:30878,GnomAD:0.5103;SGVEP=INPP5D|+|NM_001017915|3|c.349+147T>C|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,3,6 2 233990412 154030306 C T 1486 off_target VARTYPE=1;BGN=0.00104216;ARL=241;DEA=63;QA=37;PBP=833;PBM=655;TYPE=SNP;DBXREF=dbSNP:rs55913569,g1000:0.2742,esp5400:0.4227,ExAC:0.3880,GnomAD_AC_exome:83960,GnomAD_AN_exome:209542,GnomAD_AC_genome:12978,GnomAD_AN_genome:30794,GnomAD:0.4033;SGVEP=INPP5D|+|NM_001017915|4|c.350-43C>T|.|intronic GT:DP:AD:DP4 1/1:50:0,50:0,0,28,22 2 234054873 154031233 G A 1042 PASS VARTYPE=1;BGN=0.00125468;ARL=222;DEA=108;QA=36;PBP=551;PBM=493;TYPE=SNP;DBXREF=dbSNP:rs1135173,g1000:0.2003,esp5400:0.4116,ExAC:0.2810,GnomAD_AC_exome:48938,GnomAD_AN_exome:137636,GnomAD_AC_genome:11210,GnomAD_AN_genome:30890,GnomAD:0.3569;SGVEP=INPP5D|+|NM_001017915|8|c.738G>A|p.(Ser246:)|synonymous GT:DP:AD:DP4 1/1:36:0,36:0,0,19,17 2 234070233 154032161 T C 348 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=282;DEA=34;QA=36;PBP=203;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs28576692,g1000:0.2069,GnomAD_AC_genome:11219,GnomAD_AN_genome:30880,GnomAD:0.3633;SGVEP=INPP5D|+|NM_001017915|12|c.1057-137T>C|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,7,5 2 234072626 154032375 T C 329 low_coverage;off_target VARTYPE=1;BGN=0.00181855;ARL=260;DEA=66;QA=34;PBP=137;PBM=192;TYPE=SNP;DBXREF=dbSNP:rs141642539,g1000:0.9816,GnomAD_AC_genome:30505,GnomAD_AN_genome:30942,GnomAD:0.9859;SGVEP=INPP5D|+|NM_001017915|13|c.1356+77T>C|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,5,7 2 234078056 154032736 AC A 1782 off_target VARTYPE=1;BGN=0.00104216;ARL=192;DER=1;DEA=49;QR=36;QA=37;PBP=895;PBM=895;TYPE=INDEL;DBXREF=dbSNP:rs868506689,g1000:0.1901,ExAC:0.3200,GnomAD_AC_exome:68649,GnomAD_AN_exome:191934,GnomAD_AC_genome:10358,GnomAD_AN_genome:30778,GnomAD:0.3547;SGVEP=INPP5D|+|NM_001017915|15|c.1571+10del|.|intronic GT:DP:AD:DP4 1/1:66:4,62:2,2,31,31 2 234078582 154032779 G A 564 off_target VARTYPE=1;BGN=0.00151053;ARL=275;DEA=56;QA=35;PBP=338;PBM=226;TYPE=SNP;DBXREF=dbSNP:rs10754947,g1000:0.1913,GnomAD_AC_genome:10433,GnomAD_AN_genome:30878,GnomAD:0.3379;SGVEP=INPP5D|+|NM_001017915|16|c.1572-90G>A|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,12,8 2 234104029 154034457 G A 548 off_target VARTYPE=1;BGN=0.00125468;ARL=243;DER=71;DEA=54;QR=36;QA=36;PBP=315;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs6706611,g1000:0.2766,esp5400:0.2174,ExAC:0.2480,GnomAD_AC_exome:62922,GnomAD_AN_exome:246058,GnomAD_AC_genome:7408,GnomAD_AN_genome:30904,GnomAD:0.2539;SGVEP=INPP5D|+|NM_001017915|25|c.2516-16G>A|.|intronic GT:DP:AD:DP4 0/1:28:7,21:4,3,12,9 2 234107070 154034703 G A 1249 off_target VARTYPE=1;BGN=0.00104216;ARL=225;DEA=38;QA=37;PBP=596;PBM=655;TYPE=SNP;DBXREF=dbSNP:rs7569827,g1000:0.7710,esp5400:0.6877,ExAC:0.6850,GnomAD_AC_exome:143345,GnomAD_AN_exome:204364,GnomAD_AC_genome:22069,GnomAD_AN_genome:30882,GnomAD:0.7032;SGVEP=INPP5D|+|NM_001017915|26|c.2894+48G>A|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,20,22 2 234181593 154039254 G C 624 off_target VARTYPE=1;BGN=0.00104216;ARL=206;DER=32;DEA=43;QR=36;QA=37;PBP=315;PBM=315;TYPE=SNP;DBXREF=dbSNP:rs2289475,g1000:0.6360,esp5400:0.7085,ExAC:0.6760,GnomAD_AC_exome:164195,GnomAD_AN_exome:245682,GnomAD_AC_genome:20670,GnomAD_AN_genome:30900,GnomAD:0.6684;SGVEP=ATG16L1|+|NM_001190266|7|c.456-19G>C|.|intronic GT:DP:AD:DP4 0/1:36:12,24:6,6,12,12 2 234201767 154040728 A G 280 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=289;DER=91;DEA=38;QR=34;QA=36;PBP=194;PBM=87;SP=0;TYPE=SNP;DBXREF=dbSNP:rs78930461,g1000:0.0465,GnomAD_AC_genome:2125,GnomAD_AN_genome:30962,GnomAD:0.0686;SGVEP=ATG16L1|+|NM_001190266|17|c.1377-135A>G|.|intronic GT:DP:AD:DP4 1/1:11:1,10:1,0,7,3 2 234224637 154042170 C T 306 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=215;DEA=31;QA=38;PBP=153;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs112149360,g1000:0.0459,GnomAD_AC_genome:1941,GnomAD_AN_genome:30914,GnomAD:0.0628;SGVEP=SAG|+|NM_000541|3|c.76-84C>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 2 234235820 154042929 C T 275 PASS VARTYPE=1;BGN=0.000865644;ARL=214;DER=82;DEA=63;QR=36;QA=38;PBP=139;PBM=141;TYPE=SNP;DBXREF=dbSNP:rs2304773,g1000:0.1062,esp5400:0.1271,ExAC:0.1010,clinvar:rs2304773,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:24552,GnomAD_AN_exome:245916,GnomAD_AC_genome:4003,GnomAD_AN_genome:30888,GnomAD:0.1032;SGVEP=SAG|+|NM_000541|7|c.489C>T|p.(Ala163:)|synonymous GT:DP:AD:DP4 0/1:37:25,12:13,12,6,6 2 234238254 154043180 T G 392 off_target VARTYPE=1;BGN=0.00104216;ARL=245;DER=36;DEA=75;QR=36;QA=37;PBP=200;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs745498,g1000:0.7095,esp5400:0.7594,ExAC:0.7010,GnomAD_AC_exome:164876,GnomAD_AN_exome:235544,GnomAD_AC_genome:22684,GnomAD_AN_genome:30892,GnomAD:0.7040;SGVEP=SAG|+|NM_000541|9|c.733+31T>G|.|intronic GT:DP:AD:DP4 0/1:31:15,16:7,8,8,8 2 234240204 154043265 C T 543 off_target VARTYPE=1;BGN=0.00104216;ARL=255;DER=33;DEA=69;QR=38;QA=37;PBP=317;PBM=229;TYPE=SNP;DBXREF=dbSNP:rs143841408,g1000:0.0028,GnomAD_AC_genome:31,GnomAD_AN_genome:30960,GnomAD:0.0010;SGVEP=SAG|+|NM_000541|10|c.734-82C>T|.|intronic GT:DP:AD:DP4 1/1:21:2,19:1,1,11,8 2 234297156 154046517 T C 303 off_target VARTYPE=1;BGN=0.00104216;ARL=285;DER=35;DEA=57;QR=36;QA=37;PBP=128;PBM=180;TYPE=SNP;DBXREF=dbSNP:rs838719,g1000:0.2901,GnomAD_AC_genome:10557,GnomAD_AN_genome:30878,GnomAD:0.3419;SGVEP=DGKD|+|NM_003648|1|c.135+143T>C|.|intronic GT:DP:AD:DP4 0/1:21:9,12:4,5,5,7 2 234345200 154049268 G A 162 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=281;DER=42;DEA=67;QR=33;QA=36;PBP=98;PBM=70;SP=0;TYPE=SNP;DBXREF=dbSNP:rs13406462,g1000:0.1402,GnomAD_AC_genome:3605,GnomAD_AN_genome:30956,GnomAD:0.1165;SGVEP=DGKD|+|NM_003648|6|c.687+113G>A|.|intronic GT:DP:AD:DP4 0/1:16:9,7:4,5,4,3 2 234347044 154049444 A G 535 off_target VARTYPE=1;BGN=0.00104216;ARL=216;DER=61;DEA=45;QR=37;QA=37;PBP=261;PBM=280;TYPE=SNP;DBXREF=dbSNP:rs59458664,g1000:0.1436,esp5400:0.1272,ExAC:0.0920,GnomAD_AC_exome:20215,GnomAD_AN_exome:235816,GnomAD_AC_genome:3649,GnomAD_AN_genome:30908,GnomAD:0.0895;SGVEP=DGKD|+|NM_003648|8|c.953+19A>G|.|intronic GT:DP:AD:DP4 0/1:54:31,23:14,17,11,12 2 234354245 154049952 G A 682 off_target VARTYPE=1;BGN=0.00104216;ARL=227;DER=61;DEA=49;QR=35;QA=37;PBP=357;PBM=333;TYPE=SNP;DBXREF=dbSNP:rs2305542,g1000:0.3231,esp5400:0.3105,ExAC:0.2100,GnomAD_AC_exome:44162,GnomAD_AN_exome:222774,GnomAD_AC_genome:8785,GnomAD_AN_genome:30884,GnomAD:0.2087;SGVEP=DGKD|+|NM_003648|10|c.1063-24G>A|.|intronic GT:DP:AD:DP4 0/1:64:35,29:18,17,15,14 2 234354320 154049965 C T 1113 PASS VARTYPE=1;BGN=0.00104216;ARL=204;DER=96;DEA=94;QR=37;QA=37;PBP=561;PBM=563;TYPE=SNP;DBXREF=dbSNP:rs2305541,g1000:0.1122,esp5400:0.1006,ExAC:0.0830,GnomAD_AC_exome:19195,GnomAD_AN_exome:245166,GnomAD_AC_genome:2883,GnomAD_AN_genome:30900,GnomAD:0.0800;SGVEP=DGKD|+|NM_003648|10|c.1114C>T|p.(Leu372:)|synonymous GT:DP:AD:DP4 0/1:109:61,48:31,30,24,24 2 234359774 154050594 C A 261 off_target VARTYPE=1;BGN=0.00125468;ARL=246;DER=52;DEA=20;QR=36;QA=36;PBP=121;PBM=144;TYPE=SNP;DBXREF=dbSNP:rs73117559,g1000:0.1134,GnomAD_AC_genome:3210,GnomAD_AN_genome:30864,GnomAD:0.1040;SGVEP=DGKD|+|NM_003648|16|c.2035+78C>A|.|intronic GT:DP:AD:DP4 0/1:22:11,11:5,6,5,6 2 234367112 154051193 G A 529 off_target VARTYPE=1;BGN=0.00104216;ARL=263;DER=60;DEA=54;QR=35;QA=37;PBP=245;PBM=290;TYPE=SNP;DBXREF=dbSNP:rs28588417,g1000:0.1042,GnomAD_AC_genome:2880,GnomAD_AN_genome:30874,GnomAD:0.0933;SGVEP=DGKD|+|NM_003648|21|c.2562+69G>A|.|intronic GT:DP:AD:DP4 0/1:45:23,22:10,13,10,12 2 234368821 154051335 T C 1098 off_target VARTYPE=1;BGN=0.00104216;ARL=207;DER=36;DEA=36;QR=37;QA=37;PBP=579;PBM=529;TYPE=SNP;DBXREF=dbSNP:rs2290464,g1000:0.3568,esp5400:0.3365,ExAC:0.2320,GnomAD_AC_exome:53805,GnomAD_AN_exome:244044,GnomAD_AC_genome:9453,GnomAD_AN_genome:30482,GnomAD:0.2304;SGVEP=DGKD|+|NM_003648|23|c.2698-19T>C|.|intronic GT:DP:AD:DP4 0/1:93:47,46:24,23,24,22 2 234372767 154051771 T C 931 off_target VARTYPE=1;BGN=0.00104216;ARL=233;DER=53;DEA=52;QR=37;QA=37;PBP=463;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs2924811,g1000:0.2630,esp5400:0.2930,ExAC:0.2100,GnomAD_AC_exome:49883,GnomAD_AN_exome:241780,GnomAD_AC_genome:8889,GnomAD_AN_genome:30906,GnomAD:0.2155;SGVEP=DGKD|+|NM_003648|26|c.3055-43T>C|.|intronic GT:DP:AD:DP4 0/1:70:32,38:18,14,19,19 2 234372985 154051826 A C 745 off_target VARTYPE=1;BGN=0.00104216;ARL=238;DER=47;DEA=54;QR=34;QA=37;PBP=371;PBM=382;TYPE=SNP;DBXREF=dbSNP:rs2242098,g1000:0.3930,GnomAD_AC_genome:12576,GnomAD_AN_genome:30860,GnomAD:0.4075;SGVEP=DGKD|+|NM_003648|26|c.3174+56A>C|.|intronic GT:DP:AD:DP4 0/1:45:16,29:6,10,14,15 2 234526871 154060794 C G 1778 PASS VARTYPE=1;BGN=0.00125468;ARL=226;DER=106;DEA=74;QR=36;QA=36;PBP=924;PBM=868;TYPE=SNP;DBXREF=dbSNP:rs1042597,g1000:0.2560,esp5400:0.1863,ExAC:0.2670,PhyloP:-0.0520,SIFT:0.8980,PolyPhen2:0.1160,PolyPhen2_HumDiv:0.0440,MutationTaster:0.0000,GERP:-0.1800,GnomAD_AC_exome:66530,GnomAD_AN_exome:245944,GnomAD_AC_genome:6539,GnomAD_AN_genome:30896,GnomAD:0.2639;SGVEP=UGT1A8|+|NM_019076|1|c.518C>G|p.(Ala173Gly)|missense GT:DP:AD:DP4 0/1:143:67,76:33,34,39,37 2 234590527 154064714 T G 165 off_target VARTYPE=1;BGN=0.00151053;ARL=242;DER=41;DEA=40;QR=36;QA=35;PBP=106;PBM=64;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7586110,g1000:0.2977,clinvar:rs7586110,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:10620,GnomAD_AN_genome:30922,GnomAD:0.3434;SGVEP=UGT1A10|+|NM_019075|1|c.855+44504T>G|.|intronic GT:DP:AD:DP4 0/1:25:17,8:10,7,5,3 2 234590616 154064728 C A 503 PASS VARTYPE=1;BGN=0.00125468;ARL=226;DER=72;DEA=75;QR=37;QA=36;PBP=315;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs7577677,g1000:0.2973,esp5400:0.3494,ExAC:0.3510,clinvar:rs7577677,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:85995,GnomAD_AN_exome:245536,GnomAD_AC_genome:10582,GnomAD_AN_genome:30900,GnomAD:0.3494;SGVEP=UGT1A7|+|NM_019077|1|c.33C>A|p.(Pro11:)|synonymous GT:DP:AD:DP4 0/1:91:65,25:33,32,15,10 2 234590970 154064822 T G 721 PASS VARTYPE=1;BGN=0.00104216;ARL=234;DER=98;DEA=118;QR=37;QA=37;PBP=351;PBM=378;TYPE=SNP;DBXREF=dbSNP:rs17868323,g1000:0.5763,esp5400:0.5640,ExAC:0.5890,PhyloP:-3.1350,SIFT:0.6950,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-9.0100,clinvar:rs17868323,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:139786,GnomAD_AN_exome:237160,GnomAD_AC_genome:18987,GnomAD_AN_genome:30548,GnomAD:0.5931;SGVEP=UGT1A7|+|NM_019077|1|c.387T>G|p.(Asn129Lys)|missense GT:DP:AD:DP4 0/1:98:65,33:33,32,16,17 2 234590974 154064826 C A 676 PASS VARTYPE=1;BGN=0.00104216;ARL=235;DER=97;DEA=123;QR=36;QA=37;PBP=330;PBM=355;TYPE=SNP;DBXREF=dbSNP:rs17863778,g1000:0.5763,esp5400:0.4119,ExAC:0.5890,clinvar:rs17863778,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:139858,GnomAD_AN_exome:237332,GnomAD_AC_genome:18995,GnomAD_AN_genome:30538,GnomAD:0.5930;SGVEP=UGT1A7|+|NM_019077|1|c.391C>A|p.(Arg131:)|synonymous GT:DP:AD:DP4 0/1:93:62,31:31,31,15,16 2 234590975 154064831 G A 687 PASS VARTYPE=1;BGN=0.00125468;ARL=236;DER=112;DEA=126;QR=36;QA=36;PBP=348;PBM=348;TYPE=SNP;DBXREF=dbSNP:rs17868324,g1000:0.5763,esp5400:0.4099,PhyloP:-2.1280,SIFT:0.8120,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-9.0100,clinvar:rs17868324,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:139858,GnomAD_AN_exome:237468,GnomAD_AC_genome:19001,GnomAD_AN_genome:30564,GnomAD:0.5927;SGVEP=UGT1A7|+|NM_019077|1|c.392G>A|p.(Arg131Gln)|missense GT:DP:AD:DP4 0/1:88:56,32:28,28,16,16 2 234591205 154064880 T C 1536 PASS VARTYPE=1;BGN=0.00104216;ARL=239;DER=114;DEA=105;QR=37;QA=37;PBP=776;PBM=772;TYPE=SNP;DBXREF=dbSNP:rs11692021,g1000:0.2977,esp5400:0.3497,ExAC:0.3510,PhyloP:-4.8590,SIFT:0.8450,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-8.3200,clinvar:rs11692021,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:86213,GnomAD_AN_exome:245824,GnomAD_AC_genome:10603,GnomAD_AN_genome:30892,GnomAD:0.3499;SGVEP=UGT1A7|+|NM_019077|1|c.622T>C|p.(Trp208Arg)|missense GT:DP:AD:DP4 0/1:107:45,62:22,23,31,31 2 234601669 154065486 T G 749 PASS VARTYPE=1;BGN=0.00104216;ARL=245;DER=90;DEA=79;QR=37;QA=37;PBP=389;PBM=368;TYPE=SNP;DBXREF=dbSNP:rs6759892,g1000:0.3622,esp5400:0.4039,ExAC:0.3890,PhyloP:-0.1870,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-0.7180,clinvar:rs6759892,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:95364,GnomAD_AN_exome:245716,GnomAD_AC_genome:12143,GnomAD_AN_genome:30898,GnomAD:0.3887;SGVEP=UGT1A6|+|NM_001072|1|c.19T>G|p.(Ser7Ala)|missense GT:DP:AD:DP4 0/1:61:30,31:16,14,16,15 2 234601965 154065552 A G 1680 PASS VARTYPE=1;BGN=0.00104216;ARL=230;DER=116;DEA=92;QR=36;QA=37;PBP=850;PBM=844;TYPE=SNP;DBXREF=dbSNP:rs1105880,g1000:0.3427,esp5400:0.3602,ExAC:0.3520,clinvar:rs1105880,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:86299,GnomAD_AN_exome:245928,GnomAD_AC_genome:11054,GnomAD_AN_genome:30904,GnomAD:0.3517;SGVEP=UGT1A6|+|NM_001072|1|c.315A>G|p.(Leu105:)|synonymous GT:DP:AD:DP4 0/1:136:66,70:32,34,35,35 2 234602191 154065593 A G 1134 PASS VARTYPE=1;BGN=0.00104216;ARL=220;DER=107;DEA=85;QR=37;QA=37;PBP=571;PBM=574;TYPE=SNP;DBXREF=dbSNP:rs2070959,g1000:0.2776,esp5400:0.3050,ExAC:0.3130,PhyloP:-1.8920,SIFT:0.4890,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-9.4300,clinvar:rs2070959,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:76960,GnomAD_AN_exome:246040,GnomAD_AC_genome:9460,GnomAD_AN_genome:30894,GnomAD:0.3121;SGVEP=UGT1A6|+|NM_001072|1|c.541A>G|p.(Thr181Ala)|missense GT:DP:AD:DP4 0/1:101:53,48:27,26,24,24 2 234602202 154065596 A C 1069 PASS VARTYPE=1;BGN=0.00104216;ARL=218;DER=105;DEA=93;QR=36;QA=37;PBP=550;PBM=529;TYPE=SNP;DBXREF=dbSNP:rs1105879,g1000:0.3247,esp5400:0.3397,ExAC:0.3460,PhyloP:-0.4350,SIFT:0.9660,PolyPhen2:0.1030,PolyPhen2_HumDiv:0.0380,MutationTaster:0.0010,GERP:-3.3100,clinvar:rs1105879,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:85283,GnomAD_AN_exome:246030,GnomAD_AC_genome:10526,GnomAD_AN_genome:30884,GnomAD:0.3460;SGVEP=UGT1A6|+|NM_001072|1|c.552A>C|p.(Arg184Ser)|missense GT:DP:AD:DP4 0/1:93:48,45:25,23,23,22 2 234621780 154066663 T C 586 PASS VARTYPE=1;BGN=0.00104216;ARL=231;DER=101;DEA=102;QR=36;QA=37;PBP=285;PBM=310;TYPE=SNP;DBXREF=dbSNP:rs3755323,g1000:0.1450,esp5400:0.0911,ExAC:0.1210,PhyloP:1.8360,SIFT:0.9980,PolyPhen2:0.2610,PolyPhen2_HumDiv:0.0960,LRT:0.8610,MutationTaster:1.0000,GERP:4.8300,GnomAD_AC_exome:29174,GnomAD_AN_exome:246156,GnomAD_AC_genome:3058,GnomAD_AN_genome:30904,GnomAD:0.1163;SGVEP=UGT1A5|+|NM_019078|1|c.143T>C|p.(Leu48Ser)|missense GT:DP:AD:DP4 0/1:120:91,29:46,45,14,15 2 234621787 154066670 C G 586 PASS VARTYPE=1;BGN=0.00104216;ARL=233;DER=98;DEA=105;QR=36;QA=37;PBP=285;PBM=310;TYPE=SNP;DBXREF=dbSNP:rs3755322,g1000:0.1450,esp5400:0.0912,ExAC:0.1210,PhyloP:0.4840,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.9340,MutationTaster:0.5010,GERP:3.0000,GnomAD_AC_exome:29193,GnomAD_AN_exome:246154,GnomAD_AC_genome:3072,GnomAD_AN_genome:30886,GnomAD:0.1165;SGVEP=UGT1A5|+|NM_019078|1|c.150C>G|p.(Asp50Glu)|missense GT:DP:AD:DP4 0/1:120:91,29:46,45,14,15 2 234621825 154066685 T C 779 PASS VARTYPE=1;BGN=0.000865644;ARL=231;DER=95;DEA=95;QR=36;QA=38;PBP=373;PBM=416;TYPE=SNP;DBXREF=dbSNP:rs3755321,g1000:0.1450,esp5400:0.0913,ExAC:0.1210,PhyloP:0.4970,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:3.9600,GnomAD_AC_exome:29192,GnomAD_AN_exome:246224,GnomAD_AC_genome:3080,GnomAD_AN_genome:30948,GnomAD:0.1164;SGVEP=UGT1A5|+|NM_019078|1|c.188T>C|p.(Leu63Pro)|missense GT:DP:AD:DP4 0/1:129:93,36:44,49,17,19 2 234622061 154066758 C A 782 PASS VARTYPE=1;BGN=0.00125468;ARL=224;DER=106;DEA=80;QR=37;QA=36;PBP=422;PBM=369;TYPE=SNP;DBXREF=dbSNP:rs3755320,g1000:0.1444,esp5400:0.0914,ExAC:0.1210,PhyloP:0.6650,SIFT:0.7620,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.7280,MutationTaster:0.0000,GERP:3.3000,GnomAD_AC_exome:29146,GnomAD_AN_exome:246262,GnomAD_AC_genome:3078,GnomAD_AN_genome:30950,GnomAD:0.1162;SGVEP=UGT1A5|+|NM_019078|1|c.424C>A|p.(His142Asn)|missense GT:DP:AD:DP4 0/1:94:58,36:28,30,19,17 2 234622110 154066773 C G 992 PASS VARTYPE=1;BGN=0.00125468;ARL=225;DER=89;DEA=70;QR=36;QA=36;PBP=529;PBM=473;TYPE=SNP;DBXREF=dbSNP:rs12475068,g1000:0.1450,esp5400:0.0912,ExAC:0.1210,PhyloP:1.0790,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:4.8800,GnomAD_AC_exome:29198,GnomAD_AN_exome:246202,GnomAD_AC_genome:3078,GnomAD_AN_genome:30940,GnomAD:0.1165;SGVEP=UGT1A5|+|NM_019078|1|c.473C>G|p.(Ala158Gly)|missense GT:DP:AD:DP4 0/1:98:54,44:26,28,23,21 2 234622282 154066818 C T 1019 PASS VARTYPE=1;BGN=0.00104216;ARL=222;DER=104;DEA=54;QR=36;QA=37;PBP=492;PBM=537;TYPE=SNP;DBXREF=dbSNP:rs17868333,g1000:0.1442,esp5400:0.0912,ExAC:0.1200,GnomAD_AC_exome:29086,GnomAD_AN_exome:245946,GnomAD_AC_genome:3069,GnomAD_AN_genome:30936,GnomAD:0.1161;SGVEP=UGT1A5|+|NM_019078|1|c.645C>T|p.(Leu215:)|synonymous GT:DP:AD:DP4 0/1:101:57,44:27,30,21,23 2 234622294 154066821 C T 870 PASS VARTYPE=1;BGN=0.00104216;ARL=219;DER=100;DEA=61;QR=36;QA=37;PBP=429;PBM=451;TYPE=SNP;DBXREF=dbSNP:rs17863790,esp5400:0.0910,ExAC:0.1210,GnomAD_AC_exome:29080,GnomAD_AN_exome:245936,GnomAD_AC_genome:3069,GnomAD_AN_genome:30950,GnomAD:0.1161;SGVEP=UGT1A5|+|NM_019078|1|c.657C>T|p.(Ala219:)|synonymous GT:DP:AD:DP4 0/1:105:66,39:32,34,19,20 2 234622310 154066826 C T 769 PASS VARTYPE=1;BGN=0.00104216;ARL=229;DER=103;DEA=51;QR=36;QA=37;PBP=364;PBM=414;TYPE=SNP;DBXREF=dbSNP:rs17862867,esp5400:0.0911,ExAC:0.1210,PhyloP:-1.1400,SIFT:0.8040,PolyPhen2:0.3630,PolyPhen2_HumDiv:0.2530,LRT:0.5030,MutationTaster:0.0000,GERP:-3.5100,GnomAD_AC_exome:29069,GnomAD_AN_exome:245906,GnomAD_AC_genome:3072,GnomAD_AN_genome:30958,GnomAD:0.1161;SGVEP=UGT1A5|+|NM_019078|1|c.673C>T|p.(His225Tyr)|missense GT:DP:AD:DP4 0/1:87:53,34:26,27,16,18 2 234622379 154066840 C A 260 low_variant_fraction VARTYPE=1;BGN=0.00104216;ARL=217;DER=93;DEA=75;QR=35;QA=37;PBP=132;PBM=134;TYPE=SNP;DBXREF=dbSNP:rs2012736,g1000:0.1442,esp5400:0.0208,PhyloP:-3.6930,SIFT:0.6770,PolyPhen2:0.0260,PolyPhen2_HumDiv:0.0020,LRT:0.8900,MutationTaster:0.0010,GERP:-9.5500,GnomAD_AC_exome:16330,GnomAD_AN_exome:221564,GnomAD_AC_genome:3048,GnomAD_AN_genome:30882,GnomAD:0.0768;SGVEP=UGT1A5|+|NM_019078|1|c.742C>A|p.(Leu248Ile)|missense GT:DP:AD:DP4 0/1:87:73,14:38,35,7,7 2 234622382 154066841 G C 222 low_variant_fraction VARTYPE=1;BGN=0.000865644;ARL=215;DER=91;DEA=89;QR=37;QA=38;PBP=115;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs17862868,g1000:0.1442,esp5400:0.0212,PhyloP:-1.4360,SIFT:0.4740,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.8900,MutationTaster:0.0010,GERP:-7.0800,GnomAD_AC_exome:15634,GnomAD_AN_exome:220106,GnomAD_AC_genome:3047,GnomAD_AN_genome:30900,GnomAD:0.0744;SGVEP=UGT1A5|+|NM_019078|1|c.745G>C|p.(Val249Leu)|missense GT:DP:AD:DP4 0/1:91:77,12:38,39,6,6 2 234622412 154066849 G C 318 low_variant_fraction VARTYPE=1;BGN=0.00104216;ARL=210;DER=94;DEA=63;QR=36;QA=37;PBP=174;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs3892170,g1000:0.1442,esp5400:0.0206,PhyloP:-0.1160,SIFT:0.7670,PolyPhen2:0.0120,PolyPhen2_HumDiv:0.0000,LRT:0.0700,MutationTaster:0.0000,GERP:-1.0400,GnomAD_AC_exome:15158,GnomAD_AN_exome:219492,GnomAD_AC_genome:3063,GnomAD_AN_genome:30932,GnomAD:0.0728;SGVEP=UGT1A5|+|NM_019078|1|c.775G>C|p.(Gly259Arg)|missense GT:DP:AD:DP4 0/1:101:84,17:42,42,9,8 2 234622420 154066853 T C 326 low_variant_fraction VARTYPE=1;BGN=0.00125468;ARL=208;DER=94;DEA=70;QR=37;QA=36;PBP=166;PBM=166;TYPE=SNP;DBXREF=dbSNP:rs17862869,esp5400:0.0254,GnomAD_AC_exome:14589,GnomAD_AN_exome:218508,GnomAD_AC_genome:3054,GnomAD_AN_genome:30914,GnomAD:0.0707;SGVEP=UGT1A5|+|NM_019078|1|c.783T>C|p.(Phe261:)|synonymous GT:DP:AD:DP4 0/1:102:84,18:42,42,9,9 2 234622429 154066855 T C 342 low_variant_fraction VARTYPE=1;BGN=0.00104216;ARL=209;DER=100;DEA=79;QR=37;QA=37;PBP=175;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs2012734,g1000:0.5781,esp5400:0.5247,ExAC:0.5080,GnomAD_AC_exome:115404,GnomAD_AN_exome:229148,GnomAD_AC_genome:16901,GnomAD_AN_genome:30838,GnomAD:0.5089;SGVEP=UGT1A5|+|NM_019078|1|c.792T>C|p.(Asp264:)|synonymous GT:DP:AD:DP4 0/1:99:81,18:40,41,9,9 2 234627608 141612 T G 1614 PASS VARTYPE=1;BGN=0.00104216;ARL=230;DER=105;DEA=112;QR=34;QA=37;PBP=845;PBM=783;TYPE=SNP;DBXREF=dbSNP:rs2011425,g1000:0.1384,esp5400:0.0884,ExAC:0.1160,PhyloP:0.7310,SIFT:0.0410,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0010,GERP:2.3300,clinvar:rs2011425,CLNSIG:drug_response,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:27966,GnomAD_AN_exome:246222,GnomAD_AC_genome:2924,GnomAD_AN_genome:30928,GnomAD:0.1115;SGVEP=UGT1A4|+|NM_007120|1|c.142T>G|p.(Leu48Val)|missense GT:DP:AD:DP4 0/1:160:90,70:43,47,36,34 2 234627914 154067324 T C 1208 PASS VARTYPE=1;BGN=0.00104216;ARL=229;DER=101;DEA=83;QR=36;QA=37;PBP=545;PBM=675;TYPE=SNP;DBXREF=dbSNP:rs12468274,g1000:0.1310,esp5400:0.0686,ExAC:0.0940,GnomAD_AC_exome:22990,GnomAD_AN_exome:246238,GnomAD_AC_genome:2244,GnomAD_AN_genome:30932,GnomAD:0.0910;SGVEP=UGT1A4|+|NM_007120|1|c.448T>C|p.(Leu150:)|synonymous GT:DP:AD:DP4 0/1:106:55,51:27,28,23,28 2 234627937 154067334 T C 2520 PASS VARTYPE=1;BGN=0.00104216;ARL=235;DEA=104;QA=37;PBP=1219;PBM=1308;TYPE=SNP;DBXREF=dbSNP:rs2011404,g1000:0.9079,esp5400:0.8742,ExAC:0.8660,GnomAD_AC_exome:212816,GnomAD_AN_exome:246154,GnomAD_AC_genome:27246,GnomAD_AN_genome:30928,GnomAD:0.8664;SGVEP=UGT1A4|+|NM_007120|1|c.471T>C|p.(Cys157:)|synonymous GT:DP:AD:DP4 1/1:85:0,85:0,0,41,44 2 234628270 154067441 G A 1674 PASS VARTYPE=1;BGN=0.00104216;ARL=213;DER=105;DEA=92;QR=37;QA=37;PBP=819;PBM=870;TYPE=SNP;DBXREF=dbSNP:rs3732217,g1000:0.1276,esp5400:0.0672,ExAC:0.0880,GnomAD_AC_exome:22170,GnomAD_AN_exome:246008,GnomAD_AC_genome:2260,GnomAD_AN_genome:30930,GnomAD:0.0882;SGVEP=UGT1A4|+|NM_007120|1|c.804G>A|p.(Pro268:)|synonymous GT:DP:AD:DP4 0/1:182:108,74:54,54,36,38 2 234628376 154067475 C T 525 off_target VARTYPE=1;BGN=0.00104216;ARL=237;DER=72;DEA=36;QR=37;QA=37;PBP=257;PBM=276;TYPE=SNP;DBXREF=dbSNP:rs2011219,g1000:0.1234,esp5400:0.0547,ExAC:0.0890,GnomAD_AC_exome:22247,GnomAD_AN_exome:244994,GnomAD_AC_genome:1979,GnomAD_AN_genome:30922,GnomAD:0.0878;SGVEP=UGT1A10|+|NM_019075|2|c.856-47304C>T|.|intronic GT:DP:AD:DP4 0/1:58:35,23:16,19,11,12 2 234637803 154067997 T C 524 PASS VARTYPE=1;BGN=0.00104216;ARL=234;DER=84;DEA=61;QR=37;QA=37;PBP=254;PBM=277;TYPE=SNP;DBXREF=dbSNP:rs3821242,g1000:0.5349,esp5400:0.5115,ExAC:0.4790,PhyloP:-2.0640,SIFT:0.8760,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-6.7500,GnomAD_AC_exome:117029,GnomAD_AN_exome:245776,GnomAD_AC_genome:15299,GnomAD_AN_genome:30910,GnomAD:0.4783;SGVEP=UGT1A3|+|NM_019093|1|c.31T>C|p.(Trp11Arg)|missense GT:DP:AD:DP4 0/1:90:65,25:32,33,12,13 2 234637853 154068008 G A 825 PASS VARTYPE=1;BGN=0.00104216;ARL=226;DER=101;DEA=69;QR=37;QA=37;PBP=382;PBM=453;TYPE=SNP;DBXREF=dbSNP:rs6706232,g1000:0.5725,esp5400:0.5567,ExAC:0.4910,GnomAD_AC_exome:119652,GnomAD_AN_exome:246058,GnomAD_AC_genome:16376,GnomAD_AN_genome:30904,GnomAD:0.4911;SGVEP=UGT1A3|+|NM_019093|1|c.81G>A|p.(Glu27:)|synonymous GT:DP:AD:DP4 0/1:131:92,39:45,47,18,21 2 234638249 154068137 A G 2101 PASS VARTYPE=1;BGN=0.00104216;ARL=225;DER=92;DEA=109;QR=37;QA=37;PBP=1079;PBM=1040;TYPE=SNP;DBXREF=dbSNP:rs7574296,g1000:0.5731,esp5400:0.5573,ExAC:0.4910,GnomAD_AC_exome:119668,GnomAD_AN_exome:246066,GnomAD_AC_genome:16364,GnomAD_AN_genome:30850,GnomAD:0.4912;SGVEP=UGT1A3|+|NM_019093|1|c.477A>G|p.(Ala159:)|synonymous GT:DP:AD:DP4 0/1:193:103,90:54,49,46,44 2 234638690 154068274 A T 412 off_target VARTYPE=1;BGN=0.00104216;ARL=254;DER=55;DEA=64;QR=37;QA=37;PBP=211;PBM=207;TYPE=SNP;DBXREF=dbSNP:rs2361501,g1000:0.4766,esp5400:0.5590,ExAC:0.4910,GnomAD_AC_exome:118261,GnomAD_AN_exome:243674,GnomAD_AC_genome:16720,GnomAD_AN_genome:30846,GnomAD:0.4917;SGVEP=UGT1A10|+|NM_019075|2|c.856-36990A>T|.|intronic GT:DP:AD:DP4 0/1:46:28,18:13,15,9,9 2 234676413 154070805 T C 368 off_target VARTYPE=1;BGN=0.00125468;ARL=248;DER=27;DEA=48;QR=37;QA=36;PBP=186;PBM=188;TYPE=SNP;DBXREF=dbSNP:rs2302538,g1000:0.1925,GnomAD_AC_genome:5845,GnomAD_AN_genome:30930,GnomAD:0.1890;SGVEP=UGT1A1|+|NM_000463|3|c.997-82T>C|.|intronic GT:DP:AD:DP4 0/1:35:19,16:10,9,8,8 2 238233483 141665 G A 511 off_target VARTYPE=1;BGN=0.00104216;ARL=201;DER=74;DEA=63;QR=35;QA=37;PBP=219;PBM=299;TYPE=SNP;DBXREF=dbSNP:rs13032404,g1000:0.2296,esp5400:0.2538,ExAC:0.2900,clinvar:rs13032404,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:70097,GnomAD_AN_exome:241178,GnomAD_AC_genome:8127,GnomAD_AN_genome:30854,GnomAD:0.2876;SGVEP=COL6A3|-|NM_004369|44|c.9494-26C>T|.|intronic GT:DP:AD:DP4 0/1:41:20,21:10,10,9,12 2 238243292 141675 G A 736 PASS VARTYPE=1;BGN=0.00104216;ARL=216;DER=75;DEA=55;QR=37;QA=37;PBP=384;PBM=360;TYPE=SNP;DBXREF=dbSNP:rs1131296,g1000:0.3462,esp5400:0.3620,ExAC:0.3880,PhyloP:-0.6020,SIFT:0.8320,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0030,LRT:0.6410,MutationTaster:1.0000,GERP:-1.1300,clinvar:rs1131296,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:94690,GnomAD_AN_exome:245704,GnomAD_AC_genome:11855,GnomAD_AN_genome:30910,GnomAD:0.3852;SGVEP=COL6A3|-|NM_004369|41|c.9206C>T|p.(Thr3069Ile)|missense GT:DP:AD:DP4 0/1:90:57,33:29,28,17,16 2 238243464 141682 C G 757 PASS VARTYPE=1;BGN=0.00125468;ARL=222;DER=91;DEA=83;QR=36;QA=36;PBP=397;PBM=369;TYPE=SNP;DBXREF=dbSNP:rs2270669,g1000:0.7923,esp5400:0.8354,ExAC:0.7730,PhyloP:1.2470,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.2900,clinvar:rs2270669,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:188059,GnomAD_AN_exome:246176,GnomAD_AC_genome:25251,GnomAD_AN_genome:30916,GnomAD:0.7698;SGVEP=COL6A3|-|NM_004369|41|c.9034G>C|p.(Ala3012Pro)|missense GT:DP:AD:DP4 0/1:93:58,35:28,30,18,17 2 238244963 141692 A G 1526 PASS VARTYPE=1;BGN=0.00125468;ARL=231;DER=109;DEA=103;QR=36;QA=36;PBP=799;PBM=740;TYPE=SNP;DBXREF=dbSNP:rs6728818,g1000:0.6366,esp5400:0.7003,ExAC:0.6380,PhyloP:0.2550,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.1350,MutationTaster:0.0000,GERP:2.2100,clinvar:rs6728818,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:155308,GnomAD_AN_exome:246028,GnomAD_AC_genome:21140,GnomAD_AN_genome:30926,GnomAD:0.6371;SGVEP=COL6A3|-|NM_004369|40|c.8780T>C|p.(Met2927Thr)|missense GT:DP:AD:DP4 0/1:151:83,68:40,43,35,33 2 238249630 141714 C T 1137 PASS VARTYPE=1;BGN=0.00104216;ARL=234;DER=107;DEA=106;QR=36;QA=37;PBP=573;PBM=575;TYPE=SNP;DBXREF=dbSNP:rs4433949,g1000:0.3425,esp5400:0.3676,ExAC:0.3980,clinvar:rs4433949,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:97544,GnomAD_AN_exome:245754,GnomAD_AC_genome:11946,GnomAD_AN_genome:30896,GnomAD:0.3958;SGVEP=COL6A3|-|NM_004369|38|c.7929G>A|p.(Ala2643:)|synonymous GT:DP:AD:DP4 0/1:123:71,50:36,35,25,25 2 238258814 141765 C G 302 PASS VARTYPE=1;BGN=0.00181855;ARL=224;DER=114;DEA=70;QR=37;QA=34;PBP=142;PBM=167;TYPE=SNP;DBXREF=dbSNP:rs3790993,g1000:0.5543,esp5400:0.5553,ExAC:0.5490,clinvar:rs3790993,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:133510,GnomAD_AN_exome:246150,GnomAD_AC_genome:17446,GnomAD_AN_genome:30852,GnomAD:0.5450;SGVEP=COL6A3|-|NM_004369|28|c.6855G>C|p.(Gly2285:)|synonymous GT:DP:AD:DP4 0/1:74:57,17:30,27,8,9 2 238259675 154280126 G A 231 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=267;DER=58;DEA=33;QR=36;QA=37;PBP=132;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs3790995,g1000:0.3367,GnomAD_AC_genome:11997,GnomAD_AN_genome:30888,GnomAD:0.3884;SGVEP=COL6A3|-|NM_004369|27|c.6816+98C>T|.|intronic GT:DP:AD:DP4 0/1:15:6,9:3,3,5,4 2 238261112 154280238 G A 312 off_target VARTYPE=1;BGN=0.00104216;ARL=218;DER=54;DEA=42;QR=37;QA=37;PBP=171;PBM=147;TYPE=SNP;DBXREF=dbSNP:rs4663726,g1000:0.5557,esp5400:0.4941,GnomAD_AC_genome:17859,GnomAD_AN_genome:30702,GnomAD:0.5817;SGVEP=COL6A3|-|NM_004369|26|c.6753+53C>T|.|intronic GT:DP:AD:DP4 0/1:28:15,13:8,7,7,6 2 238261113 154280241 C A 295 off_target VARTYPE=1;BGN=0.000865644;ARL=218;DER=55;DEA=40;QR=37;QA=38;PBP=149;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs4663727,g1000:0.5557,esp5400:0.5349,GnomAD_AC_genome:17860,GnomAD_AN_genome:30700,GnomAD:0.5818;SGVEP=COL6A3|-|NM_004369|26|c.6753+52G>T|.|intronic GT:DP:AD:DP4 0/1:27:15,12:8,7,6,6 2 238266633 154280705 G A 256 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=277;DER=104;DEA=32;QR=37;QA=38;PBP=104;PBM=157;TYPE=SNP;DBXREF=dbSNP:rs4663730,g1000:0.2768,GnomAD_AC_genome:10505,GnomAD_AN_genome:30896,GnomAD:0.3400;SGVEP=COL6A3|-|NM_004369|22|c.6472-108C>T|.|intronic GT:DP:AD:DP4 0/1:19:9,10:4,5,4,6 2 238275569 141812 T C 1952 PASS VARTYPE=1;BGN=0.00104216;ARL=233;DER=113;DEA=96;QR=36;QA=37;PBP=965;PBM=1002;TYPE=SNP;DBXREF=dbSNP:rs77632596,g1000:0.0020,esp5400:0.0073,ExAC:0.0078,PhyloP:0.9650,SIFT:0.8100,PolyPhen2:0.5500,PolyPhen2_HumDiv:0.8750,LRT:0.9970,MutationTaster:0.0000,GERP:1.7900,clinvar:rs77632596,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:1920,GnomAD_AN_exome:246260,GnomAD_AC_genome:216,GnomAD_AN_genome:30972,GnomAD:0.0077;SGVEP=COL6A3|-|NM_004369|11|c.5261A>G|p.(Lys1754Arg)|missense GT:DP:AD:DP4 0/1:154:73,81:38,35,40,41 2 238419543 154290723 CGT C 470 off_target VARTYPE=1;BGN=0.000865644;ARL=258;DER=107;DEA=81;QR=35;QA=70;PBP=251;PBM=226;TYPE=INDEL;DBXREF=dbSNP:rs71887544,ExAC:0.2930,GnomAD_AC_genome:4254,GnomAD_AN_genome:29298,GnomAD:0.1452;SGVEP=MLPH|+|NM_001042467|4|c.333-65_333-64del|.|intronic GT:DP:AD:DP4 0/1:40:19,19:10,9,10,9 2 238419611 154290753 A G 1032 off_target VARTYPE=1;BGN=0.00125468;ARL=230;DER=66;DEA=78;QR=35;QA=36;PBP=494;PBM=547;TYPE=SNP;DBXREF=dbSNP:rs2292879,g1000:0.3754,esp5400:0.3436,ExAC:0.2780,GnomAD_AC_exome:67314,GnomAD_AN_exome:246152,GnomAD_AC_genome:9613,GnomAD_AN_genome:30716,GnomAD:0.2778;SGVEP=MLPH|+|NM_001042467|4|c.333-21A>G|.|intronic GT:DP:AD:DP4 0/1:84:40,44:20,20,21,23 2 238427142 154291290 T C 361 off_target VARTYPE=1;BGN=0.00104216;ARL=241;DER=55;DEA=43;QR=36;QA=37;PBP=181;PBM=187;TYPE=SNP;DBXREF=dbSNP:rs3751110,g1000:0.1785,esp5400:0.2267,ExAC:0.1320,GnomAD_AC_exome:28646,GnomAD_AN_exome:204084,GnomAD_AC_genome:6085,GnomAD_AN_genome:30812,GnomAD:0.1479;SGVEP=MLPH|+|NM_001042467|5|c.446-40T>C|.|intronic GT:DP:AD:DP4 0/1:80:62,18:34,28,9,9 2 238427194 154291298 T C 501 low_variant_fraction VARTYPE=1;BGN=0.00104216;ARL=225;DER=75;DEA=80;QR=36;QA=37;PBP=253;PBM=256;TYPE=SNP;DBXREF=dbSNP:rs3751109,g1000:0.1787,esp5400:0.2308,ExAC:0.1510,PhyloP:-1.1890,SIFT:0.7890,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.0050,MutationTaster:0.0000,GERP:-2.7600,GnomAD_AC_exome:35312,GnomAD_AN_exome:244204,GnomAD_AC_genome:6094,GnomAD_AN_genome:30826,GnomAD:0.1506;SGVEP=MLPH|+|NM_001042467|5|c.458T>C|p.(Leu153Pro)|missense GT:DP:AD:DP4 0/1:132:106,26:55,51,13,13 2 238427251 154291311 G A 512 low_variant_fraction VARTYPE=1;BGN=0.000865644;ARL=221;DER=101;DEA=78;QR=36;QA=38;PBP=260;PBM=260;TYPE=SNP;DBXREF=dbSNP:rs3751107,g1000:0.1787,esp5400:0.2313,ExAC:0.1510,PhyloP:0.0590,SIFT:0.7930,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0010,LRT:0.0270,MutationTaster:0.0000,GERP:1.4900,GnomAD_AC_exome:35526,GnomAD_AN_exome:245170,GnomAD_AC_genome:6096,GnomAD_AN_genome:30838,GnomAD:0.1508;SGVEP=MLPH|+|NM_001042467|5|c.515G>A|p.(Gly172Asp)|missense GT:DP:AD:DP4 0/1:142:116,26:58,58,13,13 2 238428418 154291421 G A 109 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=275;DER=40;DEA=40;QR=36;QA=36;PBP=68;PBM=45;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3751106,g1000:0.2600,GnomAD_AC_genome:7686,GnomAD_AN_genome:30858,GnomAD:0.2491;SGVEP=MLPH|+|NM_001042467|6|c.556-135G>A|.|intronic GT:DP:AD:DP4 0/1:16:11,5:6,5,3,2 2 238428454 154291427 T C 356 off_target VARTYPE=1;BGN=0.00125468;ARL=262;DER=66;DEA=43;QR=36;QA=36;PBP=191;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs75559690,g1000:0.1424,GnomAD_AC_genome:4778,GnomAD_AN_genome:30844,GnomAD:0.1549;SGVEP=MLPH|+|NM_001042467|6|c.556-99T>C|.|intronic GT:DP:AD:DP4 0/1:29:14,15:8,6,8,7 2 238428459 154291430 G A 399 off_target VARTYPE=1;BGN=0.000865644;ARL=260;DER=59;DEA=48;QR=36;QA=38;PBP=201;PBM=204;TYPE=SNP;DBXREF=dbSNP:rs3751105,g1000:0.1671,GnomAD_AC_genome:5668,GnomAD_AN_genome:30842,GnomAD:0.1838;SGVEP=MLPH|+|NM_001042467|6|c.556-94G>A|.|intronic GT:DP:AD:DP4 0/1:33:17,16:9,8,8,8 2 238434434 154291887 C T 547 PASS VARTYPE=1;BGN=0.00104216;ARL=222;DER=70;DEA=97;QR=34;QA=37;PBP=328;PBM=227;TYPE=SNP;DBXREF=dbSNP:rs11883500,g1000:0.1312,esp5400:0.1889,ExAC:0.1360,PhyloP:-1.0220,SIFT:0.5440,PolyPhen2:0.0250,PolyPhen2_HumDiv:0.0140,LRT:0.0010,MutationTaster:0.0000,GERP:-4.4300,GnomAD_AC_exome:32183,GnomAD_AN_exome:243198,GnomAD_AC_genome:5083,GnomAD_AN_genome:30916,GnomAD:0.1360;SGVEP=MLPH|+|NM_001042467|7|c.866C>T|p.(Thr289Ile)|missense GT:DP:AD:DP4 0/1:61:37,24:19,18,14,10 2 238443226 154292485 A G 454 PASS VARTYPE=1;BGN=0.000865644;ARL=198;DER=78;DEA=66;QR=36;QA=38;PBP=232;PBM=229;TYPE=SNP;DBXREF=dbSNP:rs2292884,g1000:0.3714,esp5400:0.3588,ExAC:0.2890,PhyloP:-0.1770,SIFT:0.0600,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.6020,MutationTaster:0.0000,GERP:0.0132,GnomAD_AC_exome:69656,GnomAD_AN_exome:246182,GnomAD_AC_genome:10046,GnomAD_AN_genome:30900,GnomAD:0.2876;SGVEP=MLPH|+|NM_024101|9|c.1040A>G|p.(His347Arg)|missense GT:DP:AD:DP4 0/1:35:17,18:8,9,9,9 2 238443407 154292513 G C 156 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=234;DER=9;DEA=2;QR=36;QA=37;PBP=79;PBM=79;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2292885,g1000:0.4698,GnomAD_AC_genome:11969,GnomAD_AN_genome:30886,GnomAD:0.3875;SGVEP=MLPH|+|NM_001042467|9|c.1021-5584G>C|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 2 238449107 154292922 A G 1111 PASS VARTYPE=1;BGN=0.00104216;ARL=210;DER=94;DEA=101;QR=37;QA=37;PBP=532;PBM=589;TYPE=SNP;DBXREF=dbSNP:rs2271809,g1000:0.5056,esp5400:0.4361,ExAC:0.3540,PhyloP:-0.3720,MutationTaster:0.0000,GERP:0.8380,GnomAD_AC_exome:84964,GnomAD_AN_exome:244886,GnomAD_AC_genome:13225,GnomAD_AN_genome:30850,GnomAD:0.3561;SGVEP=MLPH|+|NM_001042467|9|c.1137A>G|p.(Glu379:)|synonymous GT:DP:AD:DP4 0/1:110:62,48:32,30,23,25 2 239165636 154337732 C T 1484 PASS VARTYPE=1;BGN=0.00125468;ARL=217;DER=99;DEA=91;QR=36;QA=36;PBP=759;PBM=738;TYPE=SNP;DBXREF=dbSNP:rs2304670,g1000:0.0935,esp5400:0.0925,ExAC:0.1010,GnomAD_AC_exome:24103,GnomAD_AN_exome:245874,GnomAD_AC_genome:3289,GnomAD_AN_genome:30934,GnomAD:0.0990;SGVEP=PER2|-|NM_022817|17|c.1992G>A|p.(Ala664:)|synonymous GT:DP:AD:DP4 0/1:181:112,69:57,55,35,34 2 239180200 154338981 G A 557 off_target VARTYPE=1;BGN=0.00125468;ARL=238;DER=40;DEA=34;QR=37;QA=36;PBP=244;PBM=320;TYPE=SNP;DBXREF=dbSNP:rs71426511,g1000:0.0887,esp5400:0.0870,ExAC:0.0970,GnomAD_AC_exome:21772,GnomAD_AN_exome:234046,GnomAD_AC_genome:3136,GnomAD_AN_genome:30920,GnomAD:0.0940;SGVEP=PER2|-|NM_022817|6|c.571-46C>T|.|intronic GT:DP:AD:DP4 0/1:40:17,23:8,9,10,13 2 239180241 154338984 G A 176 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=253;DER=40;DEA=46;QR=37;QA=37;PBP=76;PBM=104;SP=0;TYPE=SNP;DBXREF=dbSNP:rs370324291,g1000:0.0026,GnomAD_AC_genome:3,GnomAD_AN_genome:30920,GnomAD:0.0001;SGVEP=PER2|-|NM_022817|6|c.571-87C>T|.|intronic GT:DP:AD:DP4 0/1:13:6,7:3,3,3,4 2 239181851 154339116 T TCA 1091 off_target VARTYPE=1;BGN=0.000865644;ARL=217;DER=33;DEA=68;QR=37;QA=75;PBP=538;PBM=563;TYPE=INDEL;DBXREF=dbSNP:rs35193535,g1000:0.0891,ExAC:0.0960,GnomAD_AC_exome:22379,GnomAD_AN_exome:240080,GnomAD_AC_genome:3149,GnomAD_AN_genome:30936,GnomAD:0.0942;SGVEP=PER2|-|NM_022817|5|c.449-21_449-20dup|.|intronic GT:DP:AD:DP4 0/1:98:51,45:25,26,22,23 2 239181860 154339118 G A 1172 off_target VARTYPE=1;BGN=0.000865644;ARL=222;DER=44;DEA=57;QR=37;QA=38;PBP=577;PBM=605;TYPE=SNP;DBXREF=dbSNP:rs13033501,g1000:0.0885,esp5400:0.0859,ExAC:0.0960,GnomAD_AC_exome:22230,GnomAD_AN_exome:238194,GnomAD_AC_genome:3124,GnomAD_AN_genome:30936,GnomAD:0.0942;SGVEP=PER2|-|NM_022817|5|c.449-28C>T|.|intronic GT:DP:AD:DP4 0/1:73:28,45:14,14,22,23 2 239181904 154339126 A G 611 off_target VARTYPE=1;BGN=0.00104216;ARL=244;DER=69;DEA=45;QR=36;QA=37;PBP=311;PBM=307;TYPE=SNP;DBXREF=dbSNP:rs2304674,g1000:0.3486,GnomAD_AC_genome:10830,GnomAD_AN_genome:30888,GnomAD:0.3506;SGVEP=PER2|-|NM_022817|5|c.449-72T>C|.|intronic GT:DP:AD:DP4 0/1:39:15,24:7,8,12,12 2 239184581 154339310 G A 175 off_target VARTYPE=1;BGN=0.00125468;ARL=244;DER=60;DEA=39;QR=37;QA=36;PBP=79;PBM=101;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10462023,g1000:0.2256,esp5400:0.2782,ExAC:0.3140,GnomAD_AC_exome:77462,GnomAD_AN_exome:245694,GnomAD_AC_genome:8686,GnomAD_AN_genome:30952,GnomAD:0.3114;SGVEP=PER2|-|NM_022817|4|c.294-43C>T|.|intronic GT:DP:AD:DP4 0/1:42:33,9:16,17,4,5 2 239186589 154339500 G C 1187 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DER=68;DEA=60;QR=36;QA=37;PBP=577;PBM=621;TYPE=SNP;DBXREF=dbSNP:rs2304672,g1000:0.0893,esp5400:0.0878,ExAC:0.0970,GnomAD_AC_exome:22490,GnomAD_AN_exome:238094,GnomAD_AC_genome:3171,GnomAD_AN_genome:30960,GnomAD:0.0954;SGVEP=PER2|-|NM_022817|2|c.-12C>G|.|5'UTR GT:DP:AD:DP4 0/1:103:53,50:25,28,24,26 2 240003870 154384795 G A 615 PASS VARTYPE=1;BGN=0.00104216;ARL=203;DER=96;DEA=94;QR=36;QA=37;PBP=327;PBM=297;TYPE=SNP;DBXREF=dbSNP:rs1063639,g1000:0.5952,esp5400:0.5118,ExAC:0.5330,GnomAD_AC_exome:132056,GnomAD_AN_exome:246256,GnomAD_AC_genome:15717,GnomAD_AN_genome:30864,GnomAD:0.5332;SGVEP=HDAC4|-|NM_006037|21|c.2565C>T|p.(Pro855:)|synonymous GT:DP:AD:DP4 0/1:98:69,29:33,36,15,14 2 240029736 154386751 T C 2712 off_target VARTYPE=1;BGN=0.00125468;ARL=223;DEA=60;QA=36;PBP=1418;PBM=1302;TYPE=SNP;DBXREF=dbSNP:rs7585225,g1000:0.8387,esp5400:0.7890,ExAC:0.8310,GnomAD_AC_exome:203501,GnomAD_AN_exome:243202,GnomAD_AC_genome:24914,GnomAD_AN_genome:30910,GnomAD:0.8333;SGVEP=HDAC4|-|NM_006037|15|c.2097+10A>G|.|intronic GT:DP:AD:DP4 1/1:94:0,94:0,0,49,45 2 240048481 154388360 C T 224 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=280;DER=82;DEA=65;QR=36;QA=37;PBP=104;PBM=125;TYPE=SNP;DBXREF=dbSNP:rs35504237,g1000:0.0811,GnomAD_AC_genome:4187,GnomAD_AN_genome:30904,GnomAD:0.1355;SGVEP=HDAC4|-|NM_006037|12|c.1295-106G>A|.|intronic GT:DP:AD:DP4 0/1:17:8,9:3,5,4,5 2 240055901 154388790 G A 487 off_target VARTYPE=1;BGN=0.00104216;ARL=232;DER=59;DEA=73;QR=33;QA=37;PBP=299;PBM=195;TYPE=SNP;DBXREF=dbSNP:rs2278778,g1000:0.5889,esp5400:0.4734,ExAC:0.6190,GnomAD_AC_exome:146895,GnomAD_AN_exome:231220,GnomAD_AC_genome:15674,GnomAD_AN_genome:30878,GnomAD:0.6203;SGVEP=HDAC4|-|NM_006037|11|c.1294+40C>T|.|intronic GT:DP:AD:DP4 0/1:39:19,20:10,9,12,8 2 240066417 154389653 A G 2667 off_target VARTYPE=1;BGN=0.00104216;ARL=223;DEA=67;QA=37;PBP=1219;PBM=1456;TYPE=SNP;DBXREF=dbSNP:rs2290087,g1000:0.8878,esp5400:0.8952,ExAC:0.8610,GnomAD_AC_exome:209359,GnomAD_AN_exome:246082,GnomAD_AC_genome:27704,GnomAD_AN_genome:30958,GnomAD:0.8557;SGVEP=HDAC4|-|NM_006037|8|c.734-7T>C|.|intronic GT:DP:AD:DP4 1/1:90:0,90:0,0,41,49 2 240066526 154389668 T C 366 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=270;DEA=30;QA=35;PBP=141;PBM=226;TYPE=SNP;DBXREF=dbSNP:rs2290088,g1000:0.6903,GnomAD_AC_genome:21695,GnomAD_AN_genome:30928,GnomAD:0.7015;SGVEP=HDAC4|-|NM_006037|8|c.734-116A>G|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,5,8 2 240085403 154390998 C A 423 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=266;DEA=47;QA=35;PBP=226;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs11124182,g1000:0.9046,GnomAD_AC_genome:27696,GnomAD_AN_genome:30882,GnomAD:0.8968;SGVEP=HDAC4|-|NM_006037|6|c.611+96G>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 2 240085674 154391061 C T 982 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DEA=55;QA=37;PBP=477;PBM=506;TYPE=SNP;DBXREF=dbSNP:rs13010577,g1000:0.4692,GnomAD_AC_genome:15850,GnomAD_AN_genome:30828,GnomAD:0.5141;SGVEP=HDAC4|-|NM_006037|6|c.491-55G>A|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,16,17 2 240098002 154391733 C T 816 low_variant_fraction;off_target VARTYPE=1;BGN=0.00151053;ARL=174;DER=83;DEA=18;QR=32;QA=35;PBP=153;PBM=689;NVF=0.03;TYPE=SNP;DBXREF=dbSNP:rs138604304,g1000:0.2628;SGVEP=HDAC4|-|NM_006037|5|c.490+107G>A|.|intronic GT:DP:AD:DP4 0/1:245:198,47:84,114,10,37 2 240098010 154391734 T C 169 low_variant_fraction;off_target VARTYPE=1;BGN=0.00263583;ARL=179;DER=78;DEA=26;QR=30;QA=32;PBP=59;PBM=116;SP=0;NVF=0.08;TYPE=SNP;DBXREF=dbSNP:rs573094758,g1000:0.2628;SGVEP=HDAC4|-|NM_006037|5|c.490+99A>G|.|intronic GT:DP:AD:DP4 0/1:195:180,15:64,116,5,10 2 240098053 154391744 C CCCCTCCCTCTGCCCGGCCT 977 off_target VARTYPE=1;BGN=0.000865644;ARL=180;DER=39;DEA=85;QR=32;QA=671;PBP=282;PBM=714;NVF=0.96;TYPE=INDEL;DBXREF=dbSNP:rs771121773,GnomAD_AC_genome:9,GnomAD_AN_genome:5654,GnomAD:0.0016;SGVEP=HDAC4|-|NM_006037|5|c.490+37_490+55dup|.|intronic GT:DP:AD:DP4 0/1:176:125,46:57,68,14,32 2 240098086 706742974 T C 296 low_variant_fraction;off_target VARTYPE=1;BGN=0.00125468;ARL=206;DER=101;DEA=23;QR=33;QA=36;PBP=69;PBM=234;SP=2;NVF=0.02;TYPE=SNP;SGVEP=HDAC4|-|NM_006037|5|c.490+23A>G|.|intronic GT:DP:AD:DP4 0/1:112:95,17:30,65,4,13 2 240111477 154392672 A T 1100 off_target VARTYPE=1;BGN=0.00104216;ARL=223;DEA=56;QA=37;PBP=566;PBM=536;TYPE=SNP;DBXREF=dbSNP:rs531993,g1000:0.5615,esp5400:0.5941,GnomAD_AC_genome:18339,GnomAD_AN_genome:30790,GnomAD:0.5956;SGVEP=HDAC4|-|NM_006037|4|c.339+52T>A|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,19,18 2 240900607 141947 TGGGGG TGGGG 1372 PASS VARTYPE=1;BGN=0.0211747;ARL=214;DER=46;DEA=90;QR=37;QA=36;HL=5;PBP=667;PBM=711;TYPE=INDEL;DBXREF=dbSNP:rs138479490,g1000:0.2474,ExAC:0.3050,clinvar:rs138479490,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:76660,GnomAD_AN_exome:245908,GnomAD_AC_genome:9547,GnomAD_AN_genome:30808,GnomAD:0.3115;SGVEP=NDUFA10|-|NM_001322020|9|c.891-5del|.|intronic GT:DP:AD:DP4 1/1:95:7,88:4,3,43,45 2 240946766 141950 T C 655 PASS VARTYPE=1;BGN=0.00104216;ARL=212;DEA=95;QA=37;PBP=328;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs13848,g1000:0.3562,esp5400:0.3694,ExAC:0.3920,PhyloP:0.1390,SIFT:0.9750,MutationTaster:0.0000,GERP:1.6600,clinvar:rs13848,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:97539,GnomAD_AN_exome:243722,GnomAD_AC_genome:12729,GnomAD_AN_genome:30912,GnomAD:0.4015;SGVEP=NDUFA10|-|NM_001322019|7|c.771A>G|p.(Gln257:)|synonymous GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 2 240954110 154442068 A G 1486 PASS VARTYPE=1;BGN=0.00104216;ARL=222;DEA=47;QA=37;PBP=744;PBM=744;TYPE=SNP;DBXREF=dbSNP:rs2289407,g1000:0.2778,esp5400:0.2788,ExAC:0.3140,GnomAD_AC_exome:78782,GnomAD_AN_exome:246078,GnomAD_AC_genome:10046,GnomAD_AN_genome:30920,GnomAD:0.3207;SGVEP=NDUFA10|-|NM_001322019|5|c.669+46T>C|.|intronic GT:DP:AD:DP4 1/1:50:0,50:0,0,25,25 2 240958129 154442410 C T 637 off_target VARTYPE=1;BGN=0.00125468;ARL=233;DEA=49;QA=36;PBP=290;PBM=348;TYPE=SNP;DBXREF=dbSNP:rs4149540,g1000:0.6831,GnomAD_AC_genome:21556,GnomAD_AN_genome:30894,GnomAD:0.6977;SGVEP=NDUFA10|-|NM_001322019|4|c.461-73G>A|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,10,12 2 240961728 141962 T C 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=203;DEA=65;QA=37;PBP=1693;PBM=1723;TYPE=SNP;DBXREF=dbSNP:rs2083411,g1000:0.7025,esp5400:0.6927,ExAC:0.6660,clinvar:rs2083411,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:163629,GnomAD_AN_exome:246178,GnomAD_AC_genome:21920,GnomAD_AN_genome:30918,GnomAD:0.6696;SGVEP=NDUFA10|-|NM_001322019|2|c.105A>G|p.(Lys35:)|synonymous GT:DP:AD:DP4 1/1:115:0,115:0,0,57,58 2 241533345 154479829 C T 823 PASS VARTYPE=1;BGN=0.00104216;ARL=219;DER=63;DEA=73;QR=34;QA=37;PBP=446;PBM=386;TYPE=SNP;DBXREF=dbSNP:rs13007017,g1000:0.0170,esp5400:0.0382,ExAC:0.0370,GnomAD_AC_exome:9324,GnomAD_AN_exome:243190,GnomAD_AC_genome:1198,GnomAD_AN_genome:30922,GnomAD:0.0384;SGVEP=CAPN10|+|NM_023083|5|c.711C>T|p.(Phe237:)|synonymous GT:DP:AD:DP4 0/1:66:31,34:15,16,18,16 2 241534381 154479972 A G 1071 off_target VARTYPE=1;BGN=0.00104216;ARL=246;DEA=59;QA=37;PBP=566;PBM=506;TYPE=SNP;DBXREF=dbSNP:rs2975764,g1000:0.8389,GnomAD_AC_genome:25722,GnomAD_AN_genome:30870,GnomAD:0.8332;SGVEP=CAPN10|+|NM_023083|7|c.998-60A>G|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,19,17 2 241537421 154480424 G A 2932 PASS VARTYPE=1;BGN=0.00104216;ARL=221;DEA=98;QA=37;PBP=1456;PBM=1486;TYPE=SNP;DBXREF=dbSNP:rs3749166,g1000:0.5118,esp5400:0.5148,ExAC:0.5780,GnomAD_AC_exome:143033,GnomAD_AN_exome:245234,GnomAD_AC_genome:16270,GnomAD_AN_genome:30784,GnomAD:0.5771;SGVEP=CAPN10|+|NM_023083|10|c.1860G>A|p.(Ala620:)|synonymous GT:DP:AD:DP4 1/1:99:0,99:0,0,49,50 2 241538074 154480537 A G 1723 PASS VARTYPE=1;BGN=0.00104216;ARL=220;DEA=94;QA=37;PBP=863;PBM=863;TYPE=SNP;DBXREF=dbSNP:rs2975766,g1000:0.9898,esp5400:0.9786,ExAC:0.9740,PhyloP:-1.5450,SIFT:0.3920,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0080,LRT:0.9590,MutationTaster:0.9560,GERP:-6.0100,GnomAD_AC_exome:182844,GnomAD_AN_exome:186836,GnomAD_AC_genome:30339,GnomAD_AN_genome:30888,GnomAD:0.9791;SGVEP=CAPN10|+|NM_023083|12|c.1996A>G|p.(Ile666Val)|missense GT:DP:AD:DP4 1/1:58:0,58:0,0,29,29 2 241538229 154480551 A G 203 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=275;DEA=43;QA=36;PBP=116;PBM=87;TYPE=SNP;DBXREF=dbSNP:rs2975767,g1000:0.7264,GnomAD_AC_genome:23737,GnomAD_AN_genome:30866,GnomAD:0.7690;SGVEP=CAPN10|+|NM_023083|12|c.*132A>G|.|3'UTR GT:DP:AD:DP4 1/1:7:0,7:0,0,4,3 2 241656673 154487994 G A 288 low_coverage;off_target VARTYPE=1;BGN=0.000865644;ARL=258;DER=66;DEA=68;QR=37;QA=38;PBP=160;PBM=132;TYPE=SNP;DBXREF=dbSNP:rs1061113,g1000:0.0078,clinvar:rs1061113,CLNSIG:Uncertain_significance,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:414,GnomAD_AN_genome:30938,GnomAD:0.0134;SGVEP=KIF1A|-|NM_001244008|49|c.*108C>T|.|3'UTR GT:DP:AD:DP4 0/1:19:8,11:4,4,6,5 2 241656845 154488022 C T 1163 off_target VARTYPE=1;BGN=0.000865644;ARL=214;DER=72;DEA=63;QR=38;QA=38;PBP=531;PBM=643;TYPE=SNP;DBXREF=dbSNP:rs747320289,ExAC:0.0000,GnomAD_AC_exome:12,GnomAD_AN_exome:239614,GnomAD_AC_genome:3,GnomAD_AN_genome:30914,GnomAD:0.0001;SGVEP=KIF1A|-|NM_001244008|49|c.5334-22G>A|.|intronic GT:DP:AD:DP4 0/1:84:38,46:19,19,21,25 2 241659368 154488330 C A 1407 off_target VARTYPE=1;BGN=0.00151053;ARL=246;DER=24;DEA=60;QR=9;QA=35;PBP=592;PBM=817;TYPE=SNP;DBXREF=dbSNP:rs6437368,g1000:0.8201,esp5400:0.7695,ExAC:0.7650,GnomAD_AC_exome:174147,GnomAD_AN_exome:224230,GnomAD_AC_genome:24270,GnomAD_AN_genome:30730,GnomAD:0.7782;SGVEP=KIF1A|-|NM_001244008|46|c.4869-25G>T|.|intronic GT:DP:AD:DP4 1/1:50:0,50:0,0,21,29 2 241666418 154488961 G A 926 off_target VARTYPE=1;BGN=0.00104216;ARL=243;DER=38;DEA=38;QR=38;QA=37;PBP=441;PBM=493;TYPE=SNP;DBXREF=dbSNP:rs2060194,g1000:0.1967,GnomAD_AC_genome:6134,GnomAD_AN_genome:30914,GnomAD:0.1984;SGVEP=KIF1A|-|NM_001244008|39|c.4008-61C>T|.|intronic GT:DP:AD:DP4 0/1:55:19,36:9,10,17,19 2 241674222 154489407 T C 965 off_target VARTYPE=1;BGN=0.00104216;ARL=208;DER=60;DEA=63;QR=33;QA=37;PBP=517;PBM=458;TYPE=SNP;DBXREF=dbSNP:rs3755533,GnomAD_AC_genome:23905,GnomAD_AN_genome:30744,GnomAD:0.7776;SGVEP=KIF1A|-|NM_001244008|38|c.4007+2258A>G|.|intronic GT:DP:AD:DP4 0/1:78:36,40:17,19,21,19 2 241680644 154489884 G C 320 off_target VARTYPE=1;BGN=0.00125468;ARL=255;DER=74;DEA=55;QR=34;QA=36;PBP=175;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs1013225,g1000:0.2272,esp5400:0.2570,ExAC:0.1790,GnomAD_AC_exome:33106,GnomAD_AN_exome:145056,GnomAD_AC_genome:8610,GnomAD_AN_genome:30856,GnomAD:0.2371;SGVEP=KIF1A|-|NM_001244008|35|c.3749+42C>G|.|intronic GT:DP:AD:DP4 0/1:45:28,15:14,14,8,7 2 241696840 142006 ATCCTCC A 139 low_variant_fraction VARTYPE=1;BGN=0.000865644;ARL=208;DER=64;DEA=92;QR=33;QA=195;PBP=72;PBM=73;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs778420481,ExAC:0.0130,clinvar:rs778420481,CLNSIG:Uncertain_significance,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:1984,GnomAD_AN_exome:106004,GnomAD_AC_genome:392,GnomAD_AN_genome:27422,GnomAD:0.0178;SGVEP=KIF1A|-|NM_001244008|27|c.2748_2753del|p.(Glu916_Glu917del)|inframe_6 GT:DP:AD:DP4 0/1:83:46,8:24,22,4,4 2 241696840 154491079 ATCC A 608 PASS VARTYPE=1;BGN=0.000865644;ARL=208;DER=64;DEA=83;QR=33;QA=98;PBP=319;PBM=297;TYPE=INDEL;DBXREF=dbSNP:rs10594016,ExAC:0.2470,clinvar:rs10594016,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:55478,GnomAD_AN_exome:106004,GnomAD_AC_genome:18325,GnomAD_AN_genome:27422,GnomAD:0.5531;SGVEP=KIF1A|-|NM_001244008|27|c.2751_2753del|p.(Glu917del)|inframe_3 GT:DP:AD:DP4 0/1:83:46,27:24,22,14,13 2 241700676 142010 G A 993 PASS VARTYPE=1;BGN=0.00104216;ARL=221;DER=66;DEA=90;QR=37;QA=37;PBP=539;PBM=463;TYPE=SNP;DBXREF=dbSNP:rs35945835,g1000:0.0190,esp5400:0.0382,ExAC:0.0380,clinvar:rs35945835,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:9148,GnomAD_AN_exome:245954,GnomAD_AC_genome:864,GnomAD_AN_genome:30966,GnomAD:0.0362;SGVEP=KIF1A|-|NM_001244008|24|c.2235C>T|p.(Ala745:)|synonymous GT:DP:AD:DP4 0/1:100:57,43:29,28,23,20 2 241702561 154491554 T A 1096 off_target VARTYPE=1;BGN=0.00125468;ARL=238;DER=110;DEA=108;QR=35;QA=36;PBP=506;PBM=601;TYPE=SNP;DBXREF=dbSNP:rs11688298,g1000:0.6024,esp5400:0.6025,ExAC:0.5350,GnomAD_AC_exome:124361,GnomAD_AN_exome:234110,GnomAD_AC_genome:18210,GnomAD_AN_genome:30820,GnomAD:0.5381;SGVEP=KIF1A|-|NM_001244008|21|c.1949+22A>T|.|intronic GT:DP:AD:DP4 0/1:101:53,48:25,28,22,26 2 241708675 154491987 C T 331 off_target VARTYPE=1;BGN=0.00125468;ARL=239;DER=57;DEA=92;QR=35;QA=36;PBP=158;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs2288753,g1000:0.3353,esp5400:0.2532,ExAC:0.2500,GnomAD_AC_exome:50722,GnomAD_AN_exome:177242,GnomAD_AC_genome:8813,GnomAD_AN_genome:30916,GnomAD:0.2860;SGVEP=KIF1A|-|NM_001244008|17|c.1422-50G>A|.|intronic GT:DP:AD:DP4 0/1:39:24,15:11,13,7,8 2 241713646 142017 A G 451 PASS VARTYPE=1;BGN=0.00151053;ARL=200;DER=92;DEA=86;QR=37;QA=35;PBP=241;PBM=217;TYPE=SNP;DBXREF=dbSNP:rs1063353,g1000:0.5136,esp5400:0.4513,ExAC:0.3840,PhyloP:0.8200,LRT:1.0000,MutationTaster:1.0000,GERP:4.3300,clinvar:rs1063353,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:91399,GnomAD_AN_exome:244654,GnomAD_AC_genome:13912,GnomAD_AN_genome:30868,GnomAD:0.3822;SGVEP=KIF1A|-|NM_001244008|12|c.991T>C|p.(Leu331:)|synonymous GT:DP:AD:DP4 0/1:51:30,21:15,15,11,10 2 241722445 154493022 G A 519 off_target VARTYPE=1;BGN=0.000865644;ARL=216;DER=78;DEA=44;QR=37;QA=38;PBP=273;PBM=254;TYPE=SNP;DBXREF=dbSNP:rs2288750,g1000:0.2883,esp5400:0.2747,ExAC:0.2220,PhyloP:-1.3450,SIFT:0.9880,LRT:0.9680,MutationTaster:0.0000,GERP:-4.8700,clinvar:rs2288750,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:53787,GnomAD_AN_exome:245750,GnomAD_AC_genome:8424,GnomAD_AN_genome:30852,GnomAD:0.2249;SGVEP=KIF1A|-|NM_001244008|9|c.864+16C>T|.|intronic GT:DP:AD:DP4 0/1:71:48,23:26,22,12,11 2 241722613 154493058 A G 338 off_target VARTYPE=1;BGN=0.00104216;ARL=233;DER=64;DEA=27;QR=33;QA=37;PBP=176;PBM=168;TYPE=SNP;DBXREF=dbSNP:rs2288749,g1000:0.5403,GnomAD_AC_genome:17567,GnomAD_AN_genome:30802,GnomAD:0.5703;SGVEP=KIF1A|-|NM_001244008|9|c.799-87T>C|.|intronic GT:DP:AD:DP4 0/1:29:15,14:6,9,7,7 2 241724678 154493267 G A 187 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=278;DER=29;DEA=21;QR=33;QA=36;PBP=29;PBM=160;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2288747,g1000:0.2833,GnomAD_AC_genome:8306,GnomAD_AN_genome:30856,GnomAD:0.2692;SGVEP=KIF1A|-|NM_001244008|7|c.609-161C>T|.|intronic GT:DP:AD:DP4 0/1:9:2,7:0,2,1,6 2 241726646 154493445 A G 571 off_target VARTYPE=1;BGN=0.00104216;ARL=227;DER=76;DEA=72;QR=36;QA=37;PBP=293;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs2288746,g1000:0.4832,esp5400:0.5224,ExAC:0.4220,GnomAD_AC_exome:101173,GnomAD_AN_exome:244960,GnomAD_AC_genome:15187,GnomAD_AN_genome:30868,GnomAD:0.4219;SGVEP=KIF1A|-|NM_001244008|5|c.429+22T>C|.|intronic GT:DP:AD:DP4 0/1:51:27,24:12,15,12,12 2 241737017 154494119 C A 599 off_target VARTYPE=1;BGN=0.00104216;ARL=229;DER=52;DEA=51;QR=36;QA=37;PBP=323;PBM=283;TYPE=SNP;DBXREF=dbSNP:rs10167412,g1000:0.3221,esp5400:0.3179,ExAC:0.2910,GnomAD_AC_exome:63278,GnomAD_AN_exome:202436,GnomAD_AC_genome:10672,GnomAD_AN_genome:30896,GnomAD:0.3169;SGVEP=KIF1A|-|NM_001244008|2|c.106+47G>T|.|intronic GT:DP:AD:DP4 0/1:63:37,26:21,16,14,12 2 241808825 142136 AGGCCTCCCT A 763 off_target VARTYPE=1;BGN=0.000865644;ARL=251;DER=41;DEA=105;QR=35;QA=321;PBP=337;PBM=435;TYPE=INDEL;DBXREF=dbSNP:rs180177209,g1000:0.2402,ExAC:0.3000,clinvar:rs180177209,CLNSIG:Uncertain_significance,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:51246,GnomAD_AN_exome:167736,GnomAD_AC_genome:9174,GnomAD_AN_genome:30700,GnomAD:0.3045;SGVEP=AGXT|+|NM_000030|2|c.358+56_358+64del|.|intronic GT:DP:AD:DP4 0/1:76:44,32:20,24,14,18 2 241808942 154498378 G T 435 off_target VARTYPE=1;BGN=0.00151053;ARL=279;DER=42;DEA=22;QR=37;QA=35;PBP=155;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs11681134,g1000:0.2408,GnomAD_AC_genome:9409,GnomAD_AN_genome:30886,GnomAD:0.3046;SGVEP=AGXT|+|NM_000030|2|c.358+163G>T|.|intronic GT:DP:AD:DP4 1/1:22:5,17:2,3,6,11 2 241810957 142175 C T 345 off_target VARTYPE=1;BGN=0.00181855;ARL=238;DER=47;DEA=32;QR=36;QA=34;PBP=151;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs10196315,g1000:0.2398,clinvar:rs10196315,CLNSIG:Uncertain_significance,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_genome:9386,GnomAD_AN_genome:30806,GnomAD:0.3047;SGVEP=AGXT|+|NM_000030|4|c.524+91C>T|.|intronic GT:DP:AD:DP4 0/1:34:18,16:9,9,7,9 2 241815308 142234 A G 374 off_target VARTYPE=1;BGN=0.00104216;ARL=235;DER=73;DEA=46;QR=35;QA=37;PBP=204;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs12464426,g1000:0.7814,esp5400:0.8062,ExAC:0.7230,clinvar:rs12464426,CLNSIG:Uncertain_significance,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:173284,GnomAD_AN_exome:242344,GnomAD_AC_genome:24470,GnomAD_AN_genome:30850,GnomAD:0.7239;SGVEP=AGXT|+|NM_000030|8|c.777-44A>G|.|intronic GT:DP:AD:DP4 0/1:27:12,15:6,6,8,7 2 241815473 142255 G A 396 off_target VARTYPE=1;BGN=0.00125468;ARL=216;DER=36;DEA=46;QR=33;QA=36;PBP=191;PBM=211;TYPE=SNP;DBXREF=dbSNP:rs12695032,g1000:0.3433,esp5400:0.4422,ExAC:0.4680,clinvar:rs12695032,CLNSIG:Uncertain_significance,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:111518,GnomAD_AN_exome:234394,GnomAD_AC_genome:14005,GnomAD_AN_genome:30894,GnomAD:0.4732;SGVEP=AGXT|+|NM_000030|8|c.846+52G>A|.|intronic GT:DP:AD:DP4 0/1:35:18,17:8,10,8,9 2 242046151 154514545 G A 924 off_target VARTYPE=1;BGN=0.00104216;ARL=212;DER=43;DEA=53;QR=38;QA=37;PBP=494;PBM=440;TYPE=SNP;DBXREF=dbSNP:rs3732227,g1000:0.2095,esp5400:0.1458,ExAC:0.0920,GnomAD_AC_exome:22159,GnomAD_AN_exome:243866,GnomAD_AC_genome:4538,GnomAD_AN_genome:30944,GnomAD:0.0971;SGVEP=PASK|-|NM_001252119|18|c.3836-13C>T|.|intronic GT:DP:AD:DP4 0/1:72:34,38:17,17,20,18 2 242046737 154514577 T C 1041 off_target VARTYPE=1;BGN=0.00104216;ARL=230;DEA=71;QA=37;PBP=566;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs2240540,g1000:0.3229,esp5400:0.2337,ExAC:0.1900,GnomAD_AC_exome:46533,GnomAD_AN_exome:246248,GnomAD_AC_genome:7415,GnomAD_AN_genome:30932,GnomAD:0.1946;SGVEP=PASK|-|NM_001252119|17|c.3835+31A>G|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,19,16 2 242046785 154514591 A C 2741 PASS VARTYPE=1;BGN=0.00125468;ARL=211;DEA=69;QA=36;PBP=1446;PBM=1302;TYPE=SNP;DBXREF=dbSNP:rs1131293,g1000:0.3229,esp5400:0.2347,ExAC:0.1900,PhyloP:0.5510,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9970,MutationTaster:1.0000,GERP:3.2300,GnomAD_AC_exome:46545,GnomAD_AN_exome:246262,GnomAD_AC_genome:7424,GnomAD_AN_genome:30878,GnomAD:0.1947;SGVEP=PASK|-|NM_001252119|17|c.3818T>G|p.(Phe1273Cys)|missense GT:DP:AD:DP4 1/1:95:0,95:0,0,50,45 2 242046993 154514632 ACCCCCCC ACCCCCC 202 low_coverage;off_target VARTYPE=1;BGN=0.0352792;ARL=236;DER=49;DEA=33;QR=37;QA=36;HL=7;PBP=86;PBM=121;SP=2;TYPE=INDEL;DBXREF=dbSNP:rs397868757,g1000:0.3227,GnomAD_AC_genome:7407,GnomAD_AN_genome:30848,GnomAD:0.2401;SGVEP=PASK|-|NM_001252119|17|c.3689-80del|.|intronic GT:DP:AD:DP4 1/1:19:3,16:2,1,7,9 2 242047750 154514722 A G 1011 off_target VARTYPE=1;BGN=0.00104216;ARL=238;DEA=64;QA=37;PBP=417;PBM=596;NVF=0.98;TYPE=SNP;DBXREF=dbSNP:rs6708265,g1000:0.4189,esp5400:0.3323,ExAC:0.2630,GnomAD_AC_exome:63739,GnomAD_AN_exome:243804,GnomAD_AC_genome:10051,GnomAD_AN_genome:30866,GnomAD:0.2686;SGVEP=PASK|-|NM_001252119|16|c.3555-35T>C|.|intronic GT:DP:AD:DP4 1/1:34:0,34:0,0,14,20 2 242047775 154514729 CCCATGGGAAGCA C 102 off_target VARTYPE=1;BGN=0.000865644;ARL=254;DER=55;DEA=88;QR=33;QA=434;PBP=41;PBM=66;SP=1;NVF=0.30;TYPE=INDEL;DBXREF=dbSNP:rs373602982,g1000:0.0615,GnomAD_AC_genome:1962,GnomAD_AN_genome:30916,GnomAD:0.0635;SGVEP=PASK|-|NM_001252119|16|c.3555-72_3555-61del|.|intronic GT:DP:AD:DP4 0/1:29:23,5:13,10,2,3 2 242051559 154514983 G A 231 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=276;DER=14;DEA=61;QR=35;QA=37;PBP=128;PBM=107;TYPE=SNP;DBXREF=dbSNP:rs16843288,g1000:0.0889,GnomAD_AC_genome:2302,GnomAD_AN_genome:30904,GnomAD:0.0745;SGVEP=PASK|-|NM_001252119|15|c.3554+96C>T|.|intronic GT:DP:AD:DP4 0/1:15:6,9:4,2,5,4 2 242051777 154515029 G A 2372 PASS VARTYPE=1;BGN=0.00104216;ARL=224;DEA=95;QA=37;PBP=1160;PBM=1219;TYPE=SNP;DBXREF=dbSNP:rs2074824,g1000:0.3229,esp5400:0.2348,ExAC:0.1900,GnomAD_AC_exome:46513,GnomAD_AN_exome:246068,GnomAD_AC_genome:7389,GnomAD_AN_genome:30828,GnomAD:0.1947;SGVEP=PASK|-|NM_001252119|15|c.3432C>T|p.(Ala1144:)|synonymous GT:DP:AD:DP4 1/1:80:0,80:0,0,39,41 2 242054403 154515220 G A 2520 PASS VARTYPE=1;BGN=0.00104216;ARL=229;DEA=81;QA=37;PBP=1308;PBM=1219;TYPE=SNP;DBXREF=dbSNP:rs3815305,g1000:0.2436,ExAC:0.1640,PhyloP:-0.6770,SIFT:0.9980,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-2.3000,GnomAD_AC_exome:40964,GnomAD_AN_exome:245790,GnomAD_AC_genome:5321,GnomAD_AN_genome:30882,GnomAD:0.1673;SGVEP=PASK|-|NM_001252124|14|c.3388C>T|p.(Arg1130Trp)|missense GT:DP:AD:DP4 1/1:85:0,85:0,0,44,41 2 242062162 154515839 C T 2343 PASS VARTYPE=1;BGN=0.00104216;ARL=229;DEA=66;QA=37;PBP=1219;PBM=1130;TYPE=SNP;DBXREF=dbSNP:rs2302050,g1000:0.2947,esp5400:0.2031,ExAC:0.1760,GnomAD_AC_exome:43223,GnomAD_AN_exome:246236,GnomAD_AC_genome:6460,GnomAD_AN_genome:30834,GnomAD:0.1793;SGVEP=PASK|-|NM_001252119|12|c.3057G>A|p.(Lys1019:)|synonymous GT:DP:AD:DP4 1/1:79:0,79:0,0,41,38 2 242063350 154515974 T C 2254 off_target VARTYPE=1;BGN=0.00104216;ARL=213;DEA=49;QA=37;PBP=1219;PBM=1041;TYPE=SNP;DBXREF=dbSNP:rs13385610,g1000:0.3906,esp5400:0.2997,ExAC:0.2480,GnomAD_AC_exome:60607,GnomAD_AN_exome:244802,GnomAD_AC_genome:9081,GnomAD_AN_genome:30874,GnomAD:0.2528;SGVEP=PASK|-|NM_001252119|11|c.2904+14A>G|.|intronic GT:DP:AD:DP4 1/1:76:0,76:0,0,41,35 2 242065594 154516173 T C 169 off_target VARTYPE=1;BGN=0.000865644;ARL=223;DER=62;DEA=88;QR=36;QA=38;PBP=87;PBM=88;SP=0;TYPE=SNP;DBXREF=dbSNP:rs147286655,g1000:0.0056,esp5400:0.0065,ExAC:0.0054,GnomAD_AC_exome:1257,GnomAD_AN_exome:243164,GnomAD_AC_genome:236,GnomAD_AN_genome:30910,GnomAD:0.0054;SGVEP=PASK|-|NM_001252119|10|c.2719+17A>G|.|intronic GT:DP:AD:DP4 0/1:37:29,8:15,14,4,4 2 242065624 154516185 A G 432 PASS VARTYPE=1;BGN=0.00151053;ARL=221;DER=60;DEA=52;QR=35;QA=35;PBP=217;PBM=222;TYPE=SNP;DBXREF=dbSNP:rs2240541,g1000:0.1741,esp5400:0.1897,ExAC:0.1020,GnomAD_AC_exome:23741,GnomAD_AN_exome:244982,GnomAD_AC_genome:5133,GnomAD_AN_genome:30834,GnomAD:0.1047;SGVEP=PASK|-|NM_001252119|10|c.2706T>C|p.(Asp902:)|synonymous GT:DP:AD:DP4 0/1:76:54,22:29,25,11,11 2 242072280 154516934 G A 2549 off_target VARTYPE=1;BGN=0.00104216;ARL=225;DEA=66;QA=37;PBP=1308;PBM=1249;TYPE=SNP;DBXREF=dbSNP:rs11684830,g1000:0.2436,esp5400:0.3500,ExAC:0.3650,GnomAD_AC_exome:89540,GnomAD_AN_exome:245810,GnomAD_AC_genome:9975,GnomAD_AN_genome:30874,GnomAD:0.3597;SGVEP=PASK|-|NM_001252119|9|c.1463+9C>T|.|intronic GT:DP:AD:DP4 1/1:86:0,86:0,0,44,42 2 242075192 154517153 A G 348 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=267;DEA=36;QA=36;PBP=174;PBM=174;TYPE=SNP;DBXREF=dbSNP:rs2108484,g1000:0.6200,GnomAD_AC_genome:15650,GnomAD_AN_genome:30730,GnomAD:0.5093;SGVEP=PASK|-|NM_001252119|8|c.1306+94T>C|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 2 242077496 154517464 C T 1782 PASS VARTYPE=1;BGN=0.00104216;ARL=222;DEA=58;QA=37;PBP=833;PBM=952;TYPE=SNP;DBXREF=dbSNP:rs1470414,g1000:0.2224,esp5400:0.2935,ExAC:0.3130,PhyloP:-0.4210,SIFT:0.0000,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0010,LRT:0.9810,MutationTaster:0.0000,GERP:-2.4500,GnomAD_AC_exome:78068,GnomAD_AN_exome:245362,GnomAD_AC_genome:8949,GnomAD_AN_genome:30910,GnomAD:0.3150;SGVEP=PASK|-|NM_001252119|6|c.748G>A|p.(Val250Ile)|missense GT:DP:AD:DP4 1/1:60:0,60:0,0,28,32 2 242079233 154517621 T C 1041 off_target VARTYPE=1;BGN=0.00104216;ARL=250;DEA=37;QA=37;PBP=566;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs10933531,g1000:0.6202,GnomAD_AC_genome:15735,GnomAD_AN_genome:30874,GnomAD:0.5097;SGVEP=PASK|-|NM_001252119|4|c.600+67A>G|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,19,16 2 242082222 154517907 C A 1071 off_target VARTYPE=1;BGN=0.00104216;ARL=245;DEA=60;QA=37;PBP=596;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs2074834,g1000:0.1727,esp5400:0.2792,ExAC:0.2890,GnomAD_AC_exome:70851,GnomAD_AN_exome:242850,GnomAD_AC_genome:8096,GnomAD_AN_genome:30924,GnomAD:0.2884;SGVEP=PASK|-|NM_001252119|2|c.196+30G>T|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,20,16 2 242082262 154517920 T C 2077 PASS VARTYPE=1;BGN=0.00104216;ARL=228;DEA=61;QA=37;PBP=1130;PBM=952;TYPE=SNP;DBXREF=dbSNP:rs6709462,g1000:0.5976,esp5400:0.4588,ExAC:0.5330,PhyloP:-2.0560,SIFT:1.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-5.9800,GnomAD_AC_exome:132932,GnomAD_AN_exome:245400,GnomAD_AC_genome:14921,GnomAD_AN_genome:30904,GnomAD:0.5351;SGVEP=PASK|-|NM_001252119|2|c.186A>G|p.(Thr62:)|synonymous GT:DP:AD:DP4 1/1:70:0,70:0,0,38,32 2 242082480 154517970 A C 1870 off_target VARTYPE=1;BGN=0.00104216;ARL=223;DEA=46;QA=37;PBP=922;PBM=952;TYPE=SNP;DBXREF=dbSNP:rs758068,g1000:0.3958,esp5400:0.4241,ExAC:0.4370,GnomAD_AC_exome:106306,GnomAD_AN_exome:240474,GnomAD_AC_genome:12416,GnomAD_AN_genome:30896,GnomAD:0.4375;SGVEP=PASK|-|NM_001252119|2|c.-33T>G|.|5'UTR GT:DP:AD:DP4 1/1:63:0,63:0,0,31,32 2 242129487 154521166 G T 2080 PASS VARTYPE=1;BGN=0.00104216;ARL=217;DER=85;DEA=61;QR=37;QA=37;PBP=1144;PBM=953;TYPE=SNP;DBXREF=dbSNP:rs11695874,g1000:0.1488,esp5400:0.2248,ExAC:0.1800,GnomAD_AC_exome:39668,GnomAD_AN_exome:184100,GnomAD_AC_genome:6915,GnomAD_AN_genome:30788,GnomAD:0.2168;SGVEP=ANO7|+|NM_001001666|2|c.171G>T|p.(Arg57:)|synonymous GT:DP:AD:DP4 0/1:170:83,87:41,42,47,40 2 242135017 154521556 A C 536 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=266;DEA=19;QA=37;PBP=328;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs12694996,g1000:0.6897,GnomAD_AC_genome:23769,GnomAD_AN_genome:30868,GnomAD:0.7700;SGVEP=ANO7|+|NM_001001666|4|c.329-104A>C|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,11,7 2 242135352 154521626 CA CAA 765 off_target VARTYPE=1;BGN=0.000865644;ARL=219;DER=41;DEA=60;QR=36;QA=38;PBP=386;PBM=386;TYPE=INDEL;DBXREF=dbSNP:rs141256141,g1000:0.0014,ExAC:0.0022,GnomAD_AC_exome:533,GnomAD_AN_exome:237842,GnomAD_AC_genome:66,GnomAD_AN_genome:30972,GnomAD:0.0022;SGVEP=ANO7|+|NM_001001891|4|c.471+93dupA|.|intronic GT:DP:AD:DP4 0/1:54:24,30:12,12,15,15 2 242139491 154521921 C T 1821 off_target VARTYPE=1;BGN=0.00125468;ARL=232;DEA=78;QA=36;PBP=984;PBM=840;TYPE=SNP;DBXREF=dbSNP:rs2013250,g1000:0.5357,esp5400:0.7492,ExAC:0.6640,GnomAD_AC_exome:159073,GnomAD_AN_exome:241916,GnomAD_AC_genome:21386,GnomAD_AN_genome:30826,GnomAD:0.6616;SGVEP=ANO7|+|NM_001001891|6|c.580-13C>T|.|intronic GT:DP:AD:DP4 1/1:63:0,63:0,0,34,29 2 242141719 154522187 C T 2626 PASS VARTYPE=1;BGN=0.00125468;ARL=224;DEA=58;QA=36;PBP=1244;PBM=1389;TYPE=SNP;DBXREF=dbSNP:rs2074840,g1000:0.4147,esp5400:0.6359,ExAC:0.5540,GnomAD_AC_exome:135446,GnomAD_AN_exome:244976,GnomAD_AC_genome:18331,GnomAD_AN_genome:30864,GnomAD:0.5575;SGVEP=ANO7|+|NM_001001891|8|c.885C>T|p.(Asp295:)|synonymous GT:DP:AD:DP4 1/1:91:0,91:0,0,43,48 2 242142737 154522262 T C 1367 off_target VARTYPE=1;BGN=0.00104216;ARL=222;DEA=61;QA=37;PBP=744;PBM=625;TYPE=SNP;DBXREF=dbSNP:rs1179530,g1000:1.0000,esp5400:0.9998,ExAC:1.0000,GnomAD_AC_exome:153011,GnomAD_AN_exome:153036,GnomAD_AC_genome:30869,GnomAD_AN_genome:30880,GnomAD:0.9998;SGVEP=ANO7|+|NM_001001891|9|c.886-11T>C|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,25,21 2 242149073 154522894 G A 10000 off_target VARTYPE=1;BGN=0.00151053;ARL=222;DEA=48;QA=35;PBP=1418;PBM=1865;TYPE=SNP;DBXREF=dbSNP:rs10192730,g1000:0.7175,esp5400:0.8030,ExAC:0.7030,GnomAD_AC_exome:123517,GnomAD_AN_exome:171778,GnomAD_AC_genome:23639,GnomAD_AN_genome:30840,GnomAD:0.7263;SGVEP=ANO7|+|NM_001001891|13|c.1521+23G>A|.|intronic GT:DP:AD:DP4 1/1:120:0,118:0,0,51,67 2 242157087 154523691 C T 667 off_target VARTYPE=1;BGN=0.00104216;ARL=216;DER=59;DEA=94;QR=36;QA=37;PBP=274;PBM=402;TYPE=SNP;DBXREF=dbSNP:rs111770284,g1000:0.1116,esp5400:0.1287,ExAC:0.1130,PhyloP:1.3200,MutationTaster:0.0260,GERP:2.3700,GnomAD_AC_exome:25469,GnomAD_AN_exome:176130,GnomAD_AC_genome:3750,GnomAD_AN_genome:30856,GnomAD:0.1412;SGVEP=ANO7|+|NM_001001891|20|c.2135-14C>T|.|intronic GT:DP:AD:DP4 0/1:70:41,29:20,21,12,17 2 242157241 154523737 G A 834 PASS VARTYPE=1;BGN=0.00125468;ARL=200;DER=70;DEA=69;QR=37;QA=36;PBP=463;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs76832527,g1000:0.1108,esp5400:0.1322,ExAC:0.1430,PhyloP:1.3050,SIFT:0.9990,PolyPhen2:0.2720,PolyPhen2_HumDiv:0.7590,LRT:1.0000,MutationTaster:1.0000,GERP:2.8400,GnomAD_AC_exome:34914,GnomAD_AN_exome:235674,GnomAD_AC_genome:3681,GnomAD_AN_genome:30386,GnomAD:0.1451;SGVEP=ANO7|+|NM_001001891|20|c.2275G>A|p.(Ala759Thr)|missense GT:DP:AD:DP4 0/1:83:46,37:22,24,20,17 2 242157776 154523847 C G 761 PASS VARTYPE=1;BGN=0.00125468;ARL=210;DER=46;DEA=64;QR=36;QA=36;PBP=379;PBM=391;TYPE=SNP;DBXREF=dbSNP:rs201381970,g1000:0.0313,esp5400:0.0287,ExAC:0.0097,PhyloP:-3.8090,MutationTaster:0.0000,GERP:-5.2300,GnomAD_AC_exome:940,GnomAD_AN_exome:83470,GnomAD_AC_genome:1118,GnomAD_AN_genome:30488,GnomAD:0.0181;SGVEP=ANO7|+|NM_001001891|21|c.2463C>G|p.(Ala821:)|synonymous GT:DP:AD:DP4 0/1:68:35,33:15,20,16,17 2 242163359 154524313 G A 278 PASS VARTYPE=1;BGN=0.00125468;ARL=229;DER=97;DEA=120;QR=36;QA=36;PBP=120;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs7590653,g1000:0.1422,esp5400:0.2120,ExAC:0.1720,PhyloP:0.0350,SIFT:0.3440,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.3050,MutationTaster:0.0000,GERP:1.7600,GnomAD_AC_exome:41913,GnomAD_AN_exome:244538,GnomAD_AC_genome:6325,GnomAD_AN_genome:29882,GnomAD:0.1758;SGVEP=ANO7|+|NM_001001891|24|c.2734G>A|p.(Glu912Lys)|missense GT:DP:AD:DP4 0/1:56:42,14:20,22,6,8 2 242173398 154525208 G A 860 off_target VARTYPE=1;BGN=0.00104216;ARL=237;DER=63;DEA=46;QR=38;QA=37;PBP=398;PBM=470;TYPE=SNP;DBXREF=dbSNP:rs73013896,g1000:0.0028,esp5400:0.0049,ExAC:0.0043,GnomAD_AC_exome:1029,GnomAD_AN_exome:246030,GnomAD_AC_genome:120,GnomAD_AN_genome:30968,GnomAD:0.0041;SGVEP=HDLBP|-|NM_001243900|24|c.3046-20C>T|.|intronic GT:DP:AD:DP4 0/1:64:29,35:13,16,16,19 2 242176019 154525504 T C 737 off_target VARTYPE=1;BGN=0.00104216;ARL=209;DER=64;DEA=64;QR=36;QA=37;PBP=386;PBM=359;TYPE=SNP;DBXREF=dbSNP:rs2305073,g1000:0.2833,esp5400:0.3283,ExAC:0.3000,GnomAD_AC_exome:72711,GnomAD_AN_exome:245298,GnomAD_AC_genome:9904,GnomAD_AN_genome:30846,GnomAD:0.2992;SGVEP=HDLBP|-|NM_001243900|21|c.2805+11A>G|.|intronic GT:DP:AD:DP4 0/1:65:34,31:17,17,16,15 2 242179134 154525825 G A 1252 PASS VARTYPE=1;BGN=0.00104216;ARL=207;DER=94;DEA=87;QR=36;QA=37;PBP=654;PBM=609;TYPE=SNP;DBXREF=dbSNP:rs10153800,g1000:0.1360,esp5400:0.2188,ExAC:0.1840,PhyloP:-1.8630,MutationTaster:1.0000,GERP:-10.8000,GnomAD_AC_exome:45184,GnomAD_AN_exome:246176,GnomAD_AC_genome:6427,GnomAD_AN_genome:30864,GnomAD:0.1863;SGVEP=HDLBP|-|NM_001243900|19|c.2394C>T|p.(Gly798:)|synonymous GT:DP:AD:DP4 0/1:101:49,52:26,23,27,25 2 242186039 154526312 G A 204 low_coverage;off_target VARTYPE=1;BGN=0.00104216;ARL=291;DER=55;DEA=48;QR=36;QA=37;PBP=104;PBM=104;TYPE=SNP;DBXREF=dbSNP:rs73114196,g1000:0.0192,GnomAD_AC_genome:713,GnomAD_AN_genome:30950,GnomAD:0.0230;SGVEP=HDLBP|-|NM_001243900|16|c.1851+128C>T|.|intronic GT:DP:AD:DP4 0/1:14:6,8:3,3,4,4 2 242192848 154526897 T C 187 low_variant_fraction VARTYPE=1;BGN=0.00104216;ARL=213;DER=96;DEA=93;QR=37;QA=37;PBP=74;PBM=119;SP=1;TYPE=SNP;DBXREF=dbSNP:rs7578199,g1000:0.1378,esp5400:0.2244,ExAC:0.1870,PhyloP:-2.6530,SIFT:0.8190,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0030,LRT:0.9630,MutationTaster:0.0000,GERP:-11.9000,GnomAD_AC_exome:45783,GnomAD_AN_exome:246214,GnomAD_AC_genome:6536,GnomAD_AN_genome:30892,GnomAD:0.1888;SGVEP=HDLBP|-|NM_001243900|10|c.1154A>G|p.(Asn385Ser)|missense GT:DP:AD:DP4 0/1:63:53,10:27,26,4,6 2 242196324 154527234 T C 209 off_target VARTYPE=1;BGN=0.00104216;ARL=255;DER=39;DEA=62;QR=37;QA=37;PBP=94;PBM=120;SP=0;TYPE=SNP;DBXREF=dbSNP:rs11693403,g1000:0.1639,GnomAD_AC_genome:6109,GnomAD_AN_genome:30934,GnomAD:0.1975;SGVEP=HDLBP|-|NM_001243900|7|c.559-103A>G|.|intronic GT:DP:AD:DP4 0/1:23:14,9:7,7,4,5 2 242203916 154527743 A C 1397 PASS VARTYPE=1;BGN=0.00104216;ARL=205;DEA=67;QA=37;PBP=655;PBM=744;TYPE=SNP;DBXREF=dbSNP:rs11891776,g1000:0.9996,ExAC:1.0000,PhyloP:1.3840,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9990,MutationTaster:0.0000,GERP:5.6400,GnomAD_AC_exome:246162,GnomAD_AN_exome:246196,GnomAD_AC_genome:30884,GnomAD_AN_genome:30886,GnomAD:0.9999;SGVEP=HDLBP|-|NM_001243900|5|c.289T>G|p.(Ser97Ala)|missense GT:DP:AD:DP4 1/1:47:0,47:0,0,22,25 2 242206048 154527888 C T 210 low_coverage;off_target VARTYPE=1;BGN=0.00125468;ARL=284;DER=12;DEA=24;QR=38;QA=36;PBP=104;PBM=109;TYPE=SNP;DBXREF=dbSNP:rs573558386,g1000:0.0008,GnomAD_AC_genome:21,GnomAD_AN_genome:30984,GnomAD:0.0007;SGVEP=HDLBP|-|NM_001243900|4|c.184+161G>A|.|intronic GT:DP:AD:DP4 0/1:11:3,8:2,1,4,4 2 242206311 154527915 C T 1199 PASS VARTYPE=1;BGN=0.00104216;ARL=203;DER=64;DEA=68;QR=37;QA=37;PBP=605;PBM=605;TYPE=SNP;DBXREF=dbSNP:rs79913511,g1000:0.0014,esp5400:0.0024,ExAC:0.0024,PhyloP:1.3330,SIFT:1.0000,PolyPhen2:0.9140,PolyPhen2_HumDiv:0.9990,MutationTaster:1.0000,GERP:4.6300,GnomAD_AC_exome:563,GnomAD_AN_exome:246196,GnomAD_AC_genome:65,GnomAD_AN_genome:30980,GnomAD:0.0023;SGVEP=HDLBP|-|NM_001243900|4|c.82G>A|p.(Gly28Arg)|missense GT:DP:AD:DP4 0/1:146:92,54:46,46,27,27 2 242206956 154527973 C T 1663 off_target VARTYPE=1;BGN=0.00104216;ARL=248;DEA=70;QA=37;PBP=863;PBM=804;TYPE=SNP;DBXREF=dbSNP:rs35334418,g1000:0.9517,ExAC:0.8660,GnomAD_AC_exome:112675,GnomAD_AN_exome:123492,GnomAD_AC_genome:28340,GnomAD_AN_genome:30938,GnomAD:0.9131;SGVEP=HDLBP|-|NM_001243900|3|c.71+37G>A|.|intronic GT:DP:AD:DP4 1/1:56:0,56:0,0,29,27 2 242674549 154558056 C G 397 PASS VARTYPE=1;BGN=0.00125468;ARL=252;DER=41;DEA=43;QR=37;QA=36;PBP=225;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs62191976,g1000:0.0345,clinvar:rs62191976,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:1329,GnomAD_AN_genome:30942,GnomAD:0.0430;SGVEP=D2HGDH|+|NM_001287249|1|c.-111+439C>G|.|intronic GT:DP:AD:DP4 0/1:46:28,18:15,13,10,8 2 242674959 142310 T G 593 off_target VARTYPE=1;BGN=0.00125468;ARL=236;DER=60;DEA=72;QR=34;QA=36;PBP=297;PBM=304;TYPE=SNP;DBXREF=dbSNP:rs62191977,g1000:0.7424,esp5400:0.7274,ExAC:0.6750,clinvar:rs62191977,CLNSIG:Likely_benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:151571,GnomAD_AN_exome:220890,GnomAD_AC_genome:22939,GnomAD_AN_genome:30898,GnomAD:0.6931;SGVEP=D2HGDH|+|NM_001287249|1|c.-111+849T>G|.|intronic GT:DP:AD:DP4 0/1:47:22,25:8,14,12,13 2 242680366 154558522 A G 231 off_target VARTYPE=1;BGN=0.00104216;ARL=228;DER=46;DEA=38;QR=37;QA=37;PBP=144;PBM=92;SP=2;TYPE=SNP;DBXREF=dbSNP:rs4073890,g1000:0.5669,GnomAD_AC_genome:16709,GnomAD_AN_genome:30170,GnomAD:0.5538;SGVEP=D2HGDH|+|NM_001287249|2|c.-110-82A>G|.|intronic GT:DP:AD:DP4 0/1:26:16,10:8,8,6,4 2 242680430 142313 A G 695 off_target VARTYPE=1;BGN=0.00104216;ARL=220;DER=67;DEA=69;QR=35;QA=37;PBP=368;PBM=335;TYPE=SNP;DBXREF=dbSNP:rs4073889,g1000:0.5647,esp5400:0.5691,ExAC:0.4900,clinvar:rs4073889,CLNSIG:Likely_benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:118596,GnomAD_AN_exome:243814,GnomAD_AC_genome:16816,GnomAD_AN_genome:30696,GnomAD:0.4933;SGVEP=D2HGDH|+|NM_001287249|2|c.-110-18A>G|.|intronic GT:DP:AD:DP4 0/1:59:30,29:14,16,15,14 2 242684115 142319 T C 691 off_target VARTYPE=1;BGN=0.00104216;ARL=212;DER=56;DEA=67;QR=36;QA=37;PBP=384;PBM=315;TYPE=SNP;DBXREF=dbSNP:rs4234097,g1000:0.5611,esp5400:0.5639,ExAC:0.4880,clinvar:rs4234097,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:119007,GnomAD_AN_exome:246130,GnomAD_AC_genome:16757,GnomAD_AN_genome:30884,GnomAD:0.4901;SGVEP=D2HGDH|+|NM_001287249|5|c.283-9T>C|.|intronic GT:DP:AD:DP4 0/1:85:54,31:29,25,17,14 2 242684394 154558968 G C 383 low_coverage;off_target VARTYPE=1;BGN=0.00151053;ARL=278;DEA=31;QA=35;PBP=141;PBM=254;TYPE=SNP;DBXREF=dbSNP:rs4675884,g1000:0.9605,GnomAD_AC_genome:28565,GnomAD_AN_genome:30654,GnomAD:0.9319;SGVEP=D2HGDH|+|NM_001287249|5|c.451+102G>C|.|intronic GT:DP:AD:DP4 1/1:15:0,14:0,0,5,9 2 242690745 142327 C T 1625 PASS VARTYPE=1;BGN=0.00104216;ARL=222;DER=99;DEA=101;QR=37;QA=37;PBP=795;PBM=844;TYPE=SNP;DBXREF=dbSNP:rs1105273,g1000:0.2153,esp5400:0.1622,ExAC:0.1550,PhyloP:-1.6800,SIFT:0.0000,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0070,LRT:0.8940,MutationTaster:0.9500,GERP:-7.9000,clinvar:rs1105273,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:39720,GnomAD_AN_exome:245878,GnomAD_AC_genome:5249,GnomAD_AN_genome:30930,GnomAD:0.1625;SGVEP=D2HGDH|+|NM_001287249|7|c.680C>T|p.(Ala227Val)|missense GT:DP:AD:DP4 0/1:179:107,72:53,54,35,37 2 242695497 154560000 T C 446 off_target VARTYPE=1;BGN=0.00104216;ARL=238;DER=53;DEA=37;QR=35;QA=37;PBP=204;PBM=248;TYPE=SNP;DBXREF=dbSNP:rs62192024,g1000:0.3546,GnomAD_AC_genome:12532,GnomAD_AN_genome:30866,GnomAD:0.4060;SGVEP=D2HGDH|+|NM_001287249|8|c.904+68T>C|.|intronic GT:DP:AD:DP4 0/1:33:15,18:6,9,8,10 2 242707101 142340 A G 1168 off_target VARTYPE=1;BGN=0.00125468;ARL=234;DER=55;DEA=55;QR=35;QA=36;PBP=573;PBM=604;TYPE=SNP;DBXREF=dbSNP:rs6756901,g1000:0.6300,esp5400:0.6181,ExAC:0.5270,clinvar:rs6756901,CLNSIG:Likely_benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:124586,GnomAD_AN_exome:240800,GnomAD_AC_genome:18370,GnomAD_AN_genome:30402,GnomAD:0.5271;SGVEP=D2HGDH|+|NM_001287249|9|c.905-24A>G|.|intronic GT:DP:AD:DP4 0/1:72:25,47:13,12,23,24 2 242738427 154562601 G A 428 off_target VARTYPE=1;BGN=0.00151053;ARL=245;DER=49;DEA=53;QR=30;QA=35;PBP=261;PBM=172;TYPE=SNP;DBXREF=dbSNP:rs77028102,g1000:0.0359,esp5400:0.0526,GnomAD_AC_genome:1700,GnomAD_AN_genome:30814,GnomAD:0.0552;SGVEP=GAL3ST2|+|NM_022134|2|c.30-53G>A|.|intronic GT:DP:AD:DP4 0/1:30:12,18:8,4,11,7 2 242743357 154563063 G A 1549 PASS VARTYPE=1;BGN=0.00125468;ARL=228;DER=110;DEA=106;QR=36;QA=36;PBP=768;PBM=794;TYPE=SNP;DBXREF=dbSNP:rs78253117,g1000:0.0310,esp5400:0.0449,ExAC:0.0270,PhyloP:-0.4650,SIFT:0.5310,PolyPhen2:0.4650,PolyPhen2_HumDiv:0.8270,LRT:0.3430,MutationTaster:0.0000,GERP:-0.9810,GnomAD_AC_exome:3508,GnomAD_AN_exome:78842,GnomAD_AC_genome:1563,GnomAD_AN_genome:30882,GnomAD:0.0462;SGVEP=GAL3ST2|+|NM_022134|4|c.973G>A|p.(Gly325Ser)|missense GT:DP:AD:DP4 0/1:153:84,69:42,42,34,35 2 242793273 154566612 A G 10000 PASS VARTYPE=1;BGN=0.00104216;ARL=212;DEA=84;QA=37;PBP=2638;PBM=2254;TYPE=SNP;DBXREF=dbSNP:rs2227981,g1000:0.6480,esp5400:0.5886,ExAC:0.6250,GnomAD_AC_exome:154619,GnomAD_AN_exome:244434,GnomAD_AC_genome:18637,GnomAD_AN_genome:30820,GnomAD:0.6294;SGVEP=PDCD1|-|NM_005018|5|c.804T>C|p.(Ala268:)|synonymous GT:DP:AD:DP4 1/1:165:0,165:0,0,89,76 2 242793559 154566669 T C 580 off_target VARTYPE=1;BGN=0.00125468;ARL=251;DEA=39;QA=36;PBP=261;PBM=319;TYPE=SNP;DBXREF=dbSNP:rs6705653,g1000:0.6482,GnomAD_AC_genome:18589,GnomAD_AN_genome:30788,GnomAD:0.6038;SGVEP=PDCD1|-|NM_005018|5|c.628-110A>G|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,9,11 2 242794191 154566752 G C 516 off_target VARTYPE=1;BGN=0.00104216;ARL=209;DER=51;DEA=61;QR=36;QA=37;PBP=312;PBM=211;TYPE=SNP;DBXREF=dbSNP:rs55829775,g1000:0.0210,esp5400:0.0439,GnomAD_AC_genome:1219,GnomAD_AN_genome:28180,GnomAD:0.0433;SGVEP=PDCD1|-|NM_005018|4|c.593-56C>G|.|intronic GT:DP:AD:DP4 0/1:50:28,22:15,13,13,9 3 361508 73575236 C T 312 PASS VARTYPE=1;BGN=0.00140598;ARL=221;DER=95;DEA=88;QR=37;QA=36;PBP=157;PBM=162;TYPE=SNP;DBXREF=dbSNP:rs2272522,g1000:0.3520,esp5400:0.3086,ExAC:0.2600,PhyloP:-0.9540,SIFT:0.1390,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0010,LRT:0.9500,MutationTaster:0.0000,GERP:-2.0300,GnomAD_AC_exome:61538,GnomAD_AN_exome:242338,GnomAD_AC_genome:9509,GnomAD_AN_genome:30776,GnomAD:0.2601;SGVEP=CHL1|+|NM_001253387|3|c.49C>T|p.(Leu17Phe)|missense GT:DP:AD:DP4 0/1:32:18,14:10,8,7,7 3 367622 73579836 G A 767 off_target VARTYPE=1;BGN=0.00117154;ARL=238;DER=59;DEA=57;QR=38;QA=37;PBP=387;PBM=387;TYPE=SNP;DBXREF=dbSNP:rs116619437,g1000:0.0192,esp5400:0.0172,ExAC:0.0240,GnomAD_AC_exome:5663,GnomAD_AN_exome:239504,GnomAD_AC_genome:558,GnomAD_AN_genome:30900,GnomAD:0.0230;SGVEP=CHL1|+|NM_001253387|4|c.92-20G>A|.|intronic GT:DP:AD:DP4 0/1:44:14,30:7,7,15,15 3 391100 73602921 A G 863 PASS VARTYPE=1;BGN=0.00117154;ARL=207;DER=114;DEA=45;QR=38;QA=37;PBP=439;PBM=427;TYPE=SNP;DBXREF=dbSNP:rs13060847,g1000:0.8510,esp5400:0.8358,ExAC:0.9550,PhyloP:2.1060,SIFT:0.2520,PolyPhen2:0.1050,PolyPhen2_HumDiv:0.0950,LRT:0.9610,MutationTaster:0.0000,GERP:4.0500,GnomAD_AC_exome:237148,GnomAD_AN_exome:246062,GnomAD_AC_genome:26599,GnomAD_AN_genome:30940,GnomAD:0.9521;SGVEP=CHL1|+|NM_001253387|9|c.859A>G|p.(Thr287Ala)|missense GT:DP:AD:DP4 1/1:31:0,30:0,0,15,15 3 403345 73613085 A G 790 off_target VARTYPE=1;BGN=0.00117154;ARL=239;DEA=32;QA=37;PBP=410;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs9846775,g1000:0.9722,esp5400:0.9666,ExAC:0.9910,GnomAD_AC_exome:241485,GnomAD_AN_exome:243234,GnomAD_AC_genome:30107,GnomAD_AN_genome:30978,GnomAD:0.9904;SGVEP=CHL1|+|NM_001253387|12|c.1259-37A>G|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,14,13 3 2908335 75429377 A G 394 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=241;DEA=19;QA=35;PBP=239;PBM=158;TYPE=SNP;DBXREF=dbSNP:rs6442761,g1000:0.7881,GnomAD_AC_genome:22728,GnomAD_AN_genome:30888,GnomAD:0.7358;SGVEP=CNTN4|+|NM_001206955|7|c.455-101A>G|.|intronic GT:DP:AD:DP4 1/1:17:0,15:0,0,9,6 3 2908694 75429611 A G 265 off_target VARTYPE=1;BGN=0.00140598;ARL=246;DER=47;DEA=43;QR=33;QA=36;PBP=136;PBM=134;TYPE=SNP;DBXREF=dbSNP:rs6789163,g1000:0.4463,GnomAD_AC_genome:11499,GnomAD_AN_genome:30888,GnomAD:0.3723;SGVEP=CNTN4|+|NM_001206955|7|c.652+61A>G|.|intronic GT:DP:AD:DP4 0/1:29:17,12:8,9,6,6 3 3030223 75564289 C A 117 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=246;DER=59;DEA=45;QR=37;QA=38;PBP=47;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs13068264,g1000:0.4706,GnomAD_AC_genome:14414,GnomAD_AN_genome:30880,GnomAD:0.4668;SGVEP=CNTN4|+|NM_001206955|13|c.1486+67C>A|.|intronic GT:DP:AD:DP4 0/1:14:9,5:5,4,2,3 3 3067850 75575336 A G 217 low_variant_fraction VARTYPE=1;BGN=0.00140598;ARL=230;DER=108;DEA=118;QR=37;QA=36;PBP=111;PBM=113;TYPE=SNP;DBXREF=dbSNP:rs7629924,g1000:0.1544,esp5400:0.1669,ExAC:0.1130,GnomAD_AC_exome:27192,GnomAD_AN_exome:245822,GnomAD_AC_genome:4297,GnomAD_AN_genome:30874,GnomAD:0.1138;SGVEP=CNTN4|+|NM_001206955|14|c.1551A>G|p.(Leu517:)|synonymous GT:DP:AD:DP4 0/1:64:52,12:27,25,6,6 3 3067853 75575341 G A 234 low_variant_fraction VARTYPE=1;BGN=0.000976189;ARL=230;DER=109;DEA=115;QR=36;QA=38;PBP=120;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs7639977,g1000:0.1428,esp5400:0.1653,ExAC:0.1040,GnomAD_AC_exome:24630,GnomAD_AN_exome:245848,GnomAD_AC_genome:4212,GnomAD_AN_genome:30876,GnomAD:0.1042;SGVEP=CNTN4|+|NM_001206955|14|c.1554G>A|p.(Pro518:)|synonymous GT:DP:AD:DP4 0/1:66:54,12:27,27,6,6 3 3076218 75584316 G A 201 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=227;DER=13;DEA=33;QR=37;QA=36;PBP=102;PBM=102;TYPE=SNP;DBXREF=dbSNP:rs9845519,g1000:0.3630,GnomAD_AC_genome:12577,GnomAD_AN_genome:30922,GnomAD:0.4067;SGVEP=CNTN4|+|NM_001206955|16|c.1784-98G>A|.|intronic GT:DP:AD:DP4 0/1:12:4,8:2,2,4,4 3 3076284 75584402 G C 316 off_target VARTYPE=1;BGN=0.000976189;ARL=228;DER=41;DEA=84;QR=35;QA=38;PBP=158;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs6765545,g1000:0.3788,esp5400:0.4373,ExAC:0.4170,GnomAD_AC_exome:101650,GnomAD_AN_exome:244302,GnomAD_AC_genome:13526,GnomAD_AN_genome:30846,GnomAD:0.4186;SGVEP=CNTN4|+|NM_001206955|16|c.1784-32G>C|.|intronic GT:DP:AD:DP4 0/1:41:27,14:15,12,7,7 3 3076443 75584702 A G 518 PASS VARTYPE=1;BGN=0.00117154;ARL=213;DER=85;DEA=69;QR=36;QA=37;PBP=263;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs6803232,g1000:0.5603,esp5400:0.6570,ExAC:0.5880,GnomAD_AC_exome:144423,GnomAD_AN_exome:245710,GnomAD_AC_genome:20178,GnomAD_AN_genome:30838,GnomAD:0.5952;SGVEP=CNTN4|+|NM_001206955|16|c.1911A>G|p.(Pro637:)|synonymous GT:DP:AD:DP4 0/1:104:78,26:39,39,13,13 3 3079127 75586770 T G 221 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=284;DER=15;DEA=42;QR=35;QA=35;PBP=99;PBM=125;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3749363,g1000:0.0891,GnomAD_AC_genome:2497,GnomAD_AN_genome:30958,GnomAD:0.0807;SGVEP=CNTN4|+|NM_001206955|17|c.2092+115T>G|.|intronic GT:DP:AD:DP4 0/1:13:4,9:2,2,4,5 3 3080509 75587722 C T 223 low_coverage;off_target VARTYPE=1;BGN=0.002025;ARL=261;DER=26;DEA=85;QR=38;QA=34;PBP=111;PBM=117;TYPE=SNP;DBXREF=dbSNP:rs7648232,g1000:0.2532,GnomAD_AC_genome:6837,GnomAD_AN_genome:30912,GnomAD:0.2212;SGVEP=CNTN4|+|NM_001206955|18|c.2093-108C>T|.|intronic GT:DP:AD:DP4 0/1:18:8,10:5,3,5,5 3 3080527 75587741 C T 673 off_target VARTYPE=1;BGN=0.00117154;ARL=254;DEA=62;QA=37;PBP=351;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs163543,g1000:0.9804,GnomAD_AC_genome:29803,GnomAD_AN_genome:30958,GnomAD:0.9627;SGVEP=CNTN4|+|NM_001206955|18|c.2093-90C>T|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,12,11 3 3081825 75589079 T C 2391 PASS VARTYPE=1;BGN=0.00117154;ARL=217;DEA=97;QA=37;PBP=1169;PBM=1228;TYPE=SNP;DBXREF=dbSNP:rs339285,g1000:0.8966,esp5400:0.9293,ExAC:0.8970,GnomAD_AC_exome:220234,GnomAD_AN_exome:246248,GnomAD_AC_genome:28555,GnomAD_AN_genome:30968,GnomAD:0.8975;SGVEP=CNTN4|+|NM_001206955|19|c.2268T>C|p.(Asp756:)|synonymous GT:DP:AD:DP4 1/1:82:0,82:0,0,40,42 3 3082025 75589462 G T 439 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=265;DEA=65;QA=37;PBP=205;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs4685596,g1000:0.2226,GnomAD_AC_genome:7606,GnomAD_AN_genome:30936,GnomAD:0.2459;SGVEP=CNTN4|+|NM_001206955|19|c.2398+70G>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,7,8 3 3084653 75591306 C T 1140 off_target VARTYPE=1;BGN=0.00117154;ARL=205;DEA=46;QA=37;PBP=585;PBM=556;TYPE=SNP;DBXREF=dbSNP:rs6800354,g1000:0.2214,esp5400:0.2733,ExAC:0.2210,GnomAD_AC_exome:52972,GnomAD_AN_exome:244786,GnomAD_AC_genome:7528,GnomAD_AN_genome:30922,GnomAD:0.2194;SGVEP=CNTN4|+|NM_001206955|21|c.2512-8C>T|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,20,19 3 3192524 75665841 A ATAAC 1661 off_target VARTYPE=1;BGN=0.000976189;ARL=240;DER=82;DEA=62;QR=11;QA=149;PBP=871;PBM=797;TYPE=INDEL;DBXREF=dbSNP:rs397828468,ExAC:0.5310,GnomAD_AC_exome:124184,GnomAD_AN_exome:233262,GnomAD_AC_genome:16162,GnomAD_AN_genome:30734,GnomAD:0.5316;SGVEP=CRBN|-|NM_001173482|11|c.*21_*24dup|.|3'UTR GT:DP:AD:DP4 1/1:57:1,56:0,1,29,27 3 3194369 75694378 T G 331 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=266;DER=59;DEA=49;QR=35;QA=36;PBP=152;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs17027520,g1000:0.0447,GnomAD_AC_genome:1138,GnomAD_AN_genome:30966,GnomAD:0.0367;SGVEP=CRBN|-|NM_001173482|10|c.1014-98A>C|.|intronic GT:DP:AD:DP4 0/1:18:5,13:3,2,6,7 3 3197871 75695565 T C 848 off_target VARTYPE=1;BGN=0.00117154;ARL=196;DEA=47;QA=37;PBP=410;PBM=439;TYPE=SNP;DBXREF=dbSNP:rs1705789,g1000:0.9046,esp5400:0.9025,ExAC:0.9730,GnomAD_AC_exome:240759,GnomAD_AN_exome:246158,GnomAD_AC_genome:28430,GnomAD_AN_genome:30964,GnomAD:0.9714;SGVEP=CRBN|-|NM_001173482|6|c.747+32A>G|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,14,15 3 3215954 70102 A G 1082 off_target VARTYPE=1;BGN=0.00117154;ARL=233;DEA=70;QA=37;PBP=556;PBM=527;TYPE=SNP;DBXREF=dbSNP:rs1669321,g1000:0.8838,esp5400:0.8795,ExAC:0.9670,clinvar:rs1669321,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:239447,GnomAD_AN_exome:246054,GnomAD_AC_genome:27894,GnomAD_AN_genome:30964,GnomAD:0.9651;SGVEP=CRBN|-|NM_001173482|3|c.172-9T>C|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,19,18 3 3221430 75704709 C T 1519 off_target VARTYPE=1;BGN=0.00117154;ARL=211;DEA=54;QA=37;PBP=732;PBM=790;TYPE=SNP;DBXREF=dbSNP:rs1672753,g1000:0.7210,esp5400:0.7532,GnomAD_AC_genome:22209,GnomAD_AN_genome:30868,GnomAD:0.7195;SGVEP=CRBN|-|NM_001173482|1|.|.|intergenic GT:DP:AD:DP4 1/1:52:0,52:0,0,25,27 3 4403767 76482848 A G 420 off_target VARTYPE=1;BGN=0.00117154;ARL=244;DER=71;DEA=58;QR=38;QA=37;PBP=201;PBM=226;TYPE=SNP;DBXREF=dbSNP:rs2819561,g1000:0.7045,clinvar:rs2819561,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:18296,GnomAD_AN_genome:30910,GnomAD:0.5919;SGVEP=SUMF1|-|NM_001164674|8|c.*61T>C|.|3'UTR GT:DP:AD:DP4 0/1:51:32,19:16,16,9,10 3 4403817 70106 T A 1279 off_target VARTYPE=1;BGN=0.000976189;ARL=219;DER=84;DEA=51;QR=37;QA=38;PBP=658;PBM=631;TYPE=SNP;DBXREF=dbSNP:rs2633851,g1000:0.7268,esp5400:0.5996,ExAC:0.6330,clinvar:rs2633851,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:154687,GnomAD_AN_exome:244148,GnomAD_AC_genome:18880,GnomAD_AN_genome:30860,GnomAD:0.6311;SGVEP=SUMF1|-|NM_001164674|8|c.*11A>T|.|3'UTR GT:DP:AD:DP4 0/1:107:54,53:27,27,27,26 3 4403818 70109 T C 1238 off_target VARTYPE=1;BGN=0.00117154;ARL=219;DER=85;DEA=52;QR=37;QA=37;PBP=637;PBM=611;TYPE=SNP;DBXREF=dbSNP:rs35083095,g1000:0.4321,esp5400:0.3736,ExAC:0.4940,clinvar:rs35083095,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:122925,GnomAD_AN_exome:244040,GnomAD_AC_genome:13041,GnomAD_AN_genome:30856,GnomAD:0.4946;SGVEP=SUMF1|-|NM_001164674|8|c.*10A>G|.|3'UTR GT:DP:AD:DP4 0/1:107:54,53:27,27,27,26 3 4403837 70111 A G 1813 PASS VARTYPE=1;BGN=0.00117154;ARL=205;DER=82;DEA=50;QR=37;QA=37;PBP=902;PBM=925;TYPE=SNP;DBXREF=dbSNP:rs2633852,g1000:0.7604,esp5400:0.6546,ExAC:0.6440,clinvar:rs2633852,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:156811,GnomAD_AN_exome:244032,GnomAD_AC_genome:19858,GnomAD_AN_genome:30898,GnomAD:0.6426;SGVEP=SUMF1|-|NM_001164674|8|c.1041T>C|p.(Thr347:)|synonymous GT:DP:AD:DP4 0/1:148:71,77:35,36,38,39 3 4452737 76518124 G A 627 off_target VARTYPE=1;BGN=0.00140598;ARL=269;DEA=53;QA=36;PBP=314;PBM=314;TYPE=SNP;DBXREF=dbSNP:rs813811,g1000:0.5797,GnomAD_AC_genome:20450,GnomAD_AN_genome:30870,GnomAD:0.6625;SGVEP=SUMF1|-|NM_001164674|6|c.766-75C>T|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 3 4461698 76518988 C T 732 off_target VARTYPE=1;BGN=0.00117154;ARL=251;DEA=45;QA=37;PBP=410;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs711666,g1000:0.8868,esp5400:0.8958,ExAC:0.9610,clinvar:rs711666,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:235591,GnomAD_AN_exome:243158,GnomAD_AC_genome:28177,GnomAD_AN_genome:30970,GnomAD:0.9622;SGVEP=SUMF1|-|NM_001164674|3|c.527+50G>A|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,14,11 3 4508742 76537971 C T 1620 PASS VARTYPE=1;BGN=0.002025;ARL=226;DER=89;DEA=108;QR=35;QA=34;PBP=900;PBM=733;TYPE=SNP;DBXREF=dbSNP:rs2819590,g1000:0.1166,esp5400:0.1916,ExAC:0.1750,PhyloP:1.1960,SIFT:0.9800,PolyPhen2:0.8780,PolyPhen2_HumDiv:0.9670,LRT:0.7980,MutationTaster:0.0590,GERP:3.0400,clinvar:rs2819590,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:36096,GnomAD_AN_exome:167938,GnomAD_AC_genome:6437,GnomAD_AN_genome:30804,GnomAD:0.2140;SGVEP=SUMF1|-|NM_001164674|1|c.188G>A|p.(Ser63Asn)|missense GT:DP:AD:DP4 0/1:153:76,77:38,38,42,35 3 4687470 76663577 G GCT 649 off_target VARTYPE=1;BGN=0.000976189;ARL=239;DER=53;DEA=53;QR=34;QA=73;PBP=318;PBM=338;TYPE=INDEL;DBXREF=dbSNP:rs397695940,ExAC:0.7510,GnomAD_AC_genome:28313,GnomAD_AN_genome:29328,GnomAD:0.9654;SGVEP=ITPR1|+|NM_001099952|10|c.855+71_855+72dup|.|intronic GT:DP:AD:DP4 0/1:39:14,25:6,8,12,13 3 4693937 76663979 G C 1350 off_target VARTYPE=1;BGN=0.000976189;ARL=222;DEA=66;QA=38;PBP=601;PBM=751;TYPE=SNP;DBXREF=dbSNP:rs6442895,g1000:0.8269,esp5400:0.7598,ExAC:0.8560,GnomAD_AC_exome:179318,GnomAD_AN_exome:206292,GnomAD_AC_genome:24324,GnomAD_AN_genome:30932,GnomAD:0.8584;SGVEP=ITPR1|+|NM_001099952|11|c.951+35G>C|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,20,25 3 4694010 76663995 A C 513 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=240;DEA=29;QA=36;PBP=257;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs6442896,g1000:0.8576,GnomAD_AC_genome:25235,GnomAD_AN_genome:30920,GnomAD:0.8161;SGVEP=ITPR1|+|NM_001099952|11|c.951+108A>C|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 3 4695680 76664134 G A 386 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=268;DER=74;DEA=35;QR=37;QA=38;PBP=195;PBM=195;TYPE=SNP;DBXREF=dbSNP:rs13316843,g1000:0.1056,GnomAD_AC_genome:4371,GnomAD_AN_genome:30896,GnomAD:0.1415;SGVEP=ITPR1|+|NM_001099952|12|c.996+110G>A|.|intronic GT:DP:AD:DP4 1/1:18:4,14:2,2,7,7 3 4712413 70146 G A 1403 PASS VARTYPE=1;BGN=0.00117154;ARL=219;DEA=62;QA=37;PBP=702;PBM=702;TYPE=SNP;DBXREF=dbSNP:rs2306875,g1000:0.6140,esp5400:0.6832,ExAC:0.6190,clinvar:rs2306875,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:127617,GnomAD_AN_exome:196786,GnomAD_AC_genome:20958,GnomAD_AN_genome:30928,GnomAD:0.6525;SGVEP=ITPR1|+|NM_001099952|20|c.2007G>A|p.(Lys669:)|synonymous GT:DP:AD:DP4 1/1:48:0,48:0,0,24,24 3 4712710 76669079 A T 826 off_target VARTYPE=1;BGN=0.00140598;ARL=265;DEA=40;QA=36;PBP=370;PBM=456;TYPE=SNP;DBXREF=dbSNP:rs2306876,g1000:0.6112,GnomAD_AC_genome:20666,GnomAD_AN_genome:30922,GnomAD:0.6683;SGVEP=ITPR1|+|NM_001099952|20|c.2204+100A>T|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,13,16 3 4716811 70152 A C 910 PASS VARTYPE=1;BGN=0.00117154;ARL=213;DER=84;DEA=69;QR=37;QA=37;PBP=471;PBM=448;TYPE=SNP;DBXREF=dbSNP:rs2306877,g1000:0.3329,esp5400:0.2338,ExAC:0.2680,clinvar:rs2306877,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:66600,GnomAD_AN_exome:245070,GnomAD_AC_genome:8519,GnomAD_AN_genome:30906,GnomAD:0.2722;SGVEP=ITPR1|+|NM_001099952|23|c.2658A>C|p.(Leu886:)|synonymous GT:DP:AD:DP4 0/1:62:25,37:13,12,19,18 3 4722956 76674021 A G 422 off_target VARTYPE=1;BGN=0.000976189;ARL=217;DER=49;DEA=15;QR=37;QA=38;PBP=214;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs4684438,g1000:0.2718,GnomAD_AC_genome:6754,GnomAD_AN_genome:30860,GnomAD:0.2189;SGVEP=ITPR1|+|NM_001099952|26|c.3080-92A>G|.|intronic GT:DP:AD:DP4 0/1:24:8,16:4,4,8,8 3 4726947 76715750 T G 265 off_target VARTYPE=1;BGN=0.00168734;ARL=226;DER=54;DEA=53;QR=36;QA=35;PBP=127;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs733018,g1000:0.2029,GnomAD_AC_genome:7714,GnomAD_AN_genome:30936,GnomAD:0.2494;SGVEP=ITPR1|+|NM_001099952|30|c.3675+57T>G|.|intronic GT:DP:AD:DP4 0/1:72:57,15:27,30,7,8 3 4735533 76718993 C T 227 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=276;DER=60;DEA=35;QR=38;QA=37;PBP=49;PBM=184;SP=5;TYPE=SNP;DBXREF=dbSNP:rs6793265,g1000:0.0691,GnomAD_AC_genome:2760,GnomAD_AN_genome:30950,GnomAD:0.0892;SGVEP=ITPR1|+|NM_001099952|33|c.4254+108C>T|.|intronic GT:DP:AD:DP4 0/1:15:6,9:3,3,2,7 3 4738774 76720090 A G 644 off_target VARTYPE=1;BGN=0.00117154;ARL=234;DEA=42;QA=37;PBP=322;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs3749382,g1000:0.2776,GnomAD_AC_genome:13137,GnomAD_AN_genome:30854,GnomAD:0.4258;SGVEP=ITPR1|+|NM_001099952|34|c.4255-57A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 3 4767262 76732463 T C 1781 PASS VARTYPE=1;BGN=0.00117154;ARL=217;DEA=95;QA=37;PBP=878;PBM=907;TYPE=SNP;DBXREF=dbSNP:rs7613447,g1000:0.5122,esp5400:0.7100,ExAC:0.6870,GnomAD_AC_exome:159292,GnomAD_AN_exome:231580,GnomAD_AC_genome:20857,GnomAD_AN_genome:30916,GnomAD:0.6863;SGVEP=ITPR1|+|NM_001168272|40|c.5124T>C|p.(Thr1708:)|synonymous GT:DP:AD:DP4 1/1:61:0,61:0,0,30,31 3 4817057 76791334 T C 1694 PASS VARTYPE=1;BGN=0.00117154;ARL=226;DEA=83;QA=37;PBP=848;PBM=848;TYPE=SNP;DBXREF=dbSNP:rs6442905,g1000:0.9627,esp5400:0.9656,ExAC:0.9700,GnomAD_AC_exome:239111,GnomAD_AN_exome:246194,GnomAD_AC_genome:30079,GnomAD_AN_genome:30978,GnomAD:0.9712;SGVEP=ITPR1|+|NM_001099952|44|c.5967T>C|p.(Asn1989:)|synonymous GT:DP:AD:DP4 1/1:58:0,58:0,0,29,29 3 4829732 70167 A G 803 PASS VARTYPE=1;BGN=0.00117154;ARL=216;DER=100;DEA=89;QR=37;QA=37;PBP=407;PBM=404;TYPE=SNP;DBXREF=dbSNP:rs13079522,g1000:0.2456,esp5400:0.3029,ExAC:0.3020,clinvar:rs13079522,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:73080,GnomAD_AN_exome:242378,GnomAD_AC_genome:9820,GnomAD_AN_genome:30930,GnomAD:0.3033;SGVEP=ITPR1|+|NM_001099952|49|c.6573A>G|p.(Thr2191:)|synonymous GT:DP:AD:DP4 0/1:67:33,34:16,17,17,17 3 4856180 70170 T C 3000 PASS VARTYPE=1;BGN=0.00117154;ARL=217;DEA=106;QA=37;PBP=1636;PBM=1374;TYPE=SNP;DBXREF=dbSNP:rs711631,g1000:0.7909,esp5400:0.8035,ExAC:0.8240,clinvar:rs711631,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:204171,GnomAD_AN_exome:246220,GnomAD_AC_genome:25364,GnomAD_AN_genome:30848,GnomAD:0.8284;SGVEP=ITPR1|+|NM_001099952|55|c.7491T>C|p.(Thr2497:)|synonymous GT:DP:AD:DP4 1/1:103:0,103:0,0,56,47 3 4856234 70172 G A 706 PASS VARTYPE=1;BGN=0.00168734;ARL=230;DER=81;DEA=67;QR=35;QA=35;PBP=388;PBM=326;TYPE=SNP;DBXREF=dbSNP:rs901854,g1000:0.5875,esp5400:0.5959,ExAC:0.6040,clinvar:rs901854,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:148151,GnomAD_AN_exome:245298,GnomAD_AC_genome:18422,GnomAD_AN_genome:30462,GnomAD:0.6041;SGVEP=ITPR1|+|NM_001099952|55|c.7545G>A|p.(Lys2515:)|synonymous GT:DP:AD:DP4 0/1:73:40,33:22,18,18,15 3 4856993 76855127 C G 322 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=237;DEA=43;QA=37;PBP=147;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs6442911,g1000:0.9425,GnomAD_AC_genome:29433,GnomAD_AN_genome:30902,GnomAD:0.9525;SGVEP=ITPR1|+|NM_001099952|56|c.7723+91C>G|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 3 4859725 76855529 G A 732 off_target VARTYPE=1;BGN=0.00117154;ARL=237;DEA=37;QA=37;PBP=381;PBM=351;TYPE=SNP;DBXREF=dbSNP:rs9844268,g1000:0.9499,esp5400:0.9508,ExAC:0.9850,GnomAD_AC_exome:203950,GnomAD_AN_exome:206388,GnomAD_AC_genome:29513,GnomAD_AN_genome:30960,GnomAD:0.9836;SGVEP=ITPR1|+|NM_001099952|57|c.7724-41G>A|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,13,12 3 4878743 76861366 C T 148 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=261;DER=20;DEA=44;QR=38;QA=36;PBP=76;PBM=76;SP=0;TYPE=SNP;DBXREF=dbSNP:rs41290678,g1000:0.1192,GnomAD_AC_genome:5994,GnomAD_AN_genome:30806,GnomAD:0.1946;SGVEP=ITPR1|+|NM_001099952|58|c.8046+124C>T|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 3 6903297 78275414 C T 10000 PASS VARTYPE=1;BGN=0.00117154;ARL=222;DEA=106;QA=37;PBP=2130;PBM=2014;TYPE=SNP;DBXREF=dbSNP:rs3749380,g1000:0.4169,esp5400:0.3579,ExAC:0.4010,GnomAD_AC_exome:96264,GnomAD_AN_exome:240070,GnomAD_AC_genome:11104,GnomAD_AN_genome:30818,GnomAD:0.3964;SGVEP=GRM7|+|NM_000844|1|c.222C>T|p.(Asn74:)|synonymous GT:DP:AD:DP4 1/1:142:0,142:0,0,73,69 3 6903601 78275801 A G 1985 off_target VARTYPE=1;BGN=0.00117154;ARL=224;DEA=72;QA=37;PBP=936;PBM=1053;TYPE=SNP;DBXREF=dbSNP:rs342034,g1000:0.9848,esp5400:0.9650,ExAC:0.9680,GnomAD_AC_exome:230618,GnomAD_AN_exome:238350,GnomAD_AC_genome:29843,GnomAD_AN_genome:30946,GnomAD:0.9672;SGVEP=GRM7|+|NM_000844|1|c.519+7A>G|.|intronic GT:DP:AD:DP4 1/1:68:0,68:0,0,32,36 3 7188006 78458216 A C 143 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=275;DER=24;DEA=51;QR=35;QA=37;PBP=72;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3828472,g1000:0.2109,GnomAD_AC_genome:7713,GnomAD_AN_genome:30916,GnomAD:0.2495;SGVEP=GRM7|+|NM_000844|2|c.520-133A>C|.|intronic GT:DP:AD:DP4 0/1:13:7,6:4,3,3,3 3 7188063 78458328 T C 567 off_target VARTYPE=1;BGN=0.00117154;ARL=233;DER=49;DEA=46;QR=36;QA=37;PBP=287;PBM=287;TYPE=SNP;DBXREF=dbSNP:rs3749450,g1000:0.2165,GnomAD_AC_genome:7900,GnomAD_AN_genome:30906,GnomAD:0.2556;SGVEP=GRM7|+|NM_000844|2|c.520-76T>C|.|intronic GT:DP:AD:DP4 0/1:48:22,24:11,11,12,12 3 7456675 78583662 C T 1081 off_target VARTYPE=1;BGN=0.000976189;ARL=253;DEA=61;QA=38;PBP=541;PBM=541;TYPE=SNP;DBXREF=dbSNP:rs712774,g1000:0.7015,esp5400:0.7778,ExAC:0.6930,GnomAD_AC_exome:152506,GnomAD_AN_exome:221168,GnomAD_AC_genome:22329,GnomAD_AN_genome:30814,GnomAD:0.6938;SGVEP=GRM7|+|NM_000844|5|c.1034-35C>T|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,18,18 3 7494245 78633336 TTG T 473 off_target VARTYPE=1;BGN=0.000976189;ARL=241;DER=126;DEA=53;QR=38;QA=71;PBP=253;PBM=224;TYPE=INDEL;DBXREF=dbSNP:rs758361455,ExAC:0.4090,GnomAD_AC_genome:10256,GnomAD_AN_genome:29504,GnomAD:0.3476;SGVEP=GRM7|+|NM_000844|6|c.1175-21_1175-20del|.|intronic GT:DP:AD:DP4 1/1:21:2,17:1,1,9,8 3 7494417 78633375 A T 2526 PASS VARTYPE=1;BGN=0.00140598;ARL=211;DEA=98;QA=36;PBP=1309;PBM=1223;TYPE=SNP;DBXREF=dbSNP:rs2229902,g1000:0.1573,esp5400:0.3201,ExAC:0.3040,PhyloP:0.4140,SIFT:0.4310,PolyPhen2:0.2390,PolyPhen2_HumDiv:0.5230,LRT:0.9910,MutationTaster:0.8130,GERP:3.3900,GnomAD_AC_exome:75350,GnomAD_AN_exome:245544,GnomAD_AC_genome:9170,GnomAD_AN_genome:30898,GnomAD:0.3057;SGVEP=GRM7|+|NM_000844|6|c.1298A>T|p.(Tyr433Phe)|missense GT:DP:AD:DP4 1/1:89:0,89:0,0,46,43 3 7620789 78711147 T C 1038 PASS VARTYPE=1;BGN=0.00117154;ARL=227;DER=88;DEA=104;QR=36;QA=37;PBP=510;PBM=537;TYPE=SNP;DBXREF=dbSNP:rs1485175,g1000:0.5256,esp5400:0.5630,ExAC:0.5470,GnomAD_AC_exome:134450,GnomAD_AN_exome:246002,GnomAD_AC_genome:17752,GnomAD_AN_genome:30874,GnomAD:0.5497;SGVEP=GRM7|+|NM_000844|8|c.2196T>C|p.(Tyr732:)|synonymous GT:DP:AD:DP4 0/1:77:34,43:17,17,21,22 3 7621158 78711677 T C 242 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=271;DER=54;DEA=49;QR=38;QA=36;PBP=125;PBM=122;TYPE=SNP;DBXREF=dbSNP:rs1485172,g1000:0.5036,GnomAD_AC_genome:17624,GnomAD_AN_genome:30910,GnomAD:0.5702;SGVEP=GRM7|+|NM_000844|8|c.2451+114T>C|.|intronic GT:DP:AD:DP4 0/1:17:7,10:3,4,5,5 3 9027704 79551301 A G 207 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=283;DER=35;DEA=61;QR=29;QA=37;PBP=82;PBM=129;SP=0;TYPE=SNP;DBXREF=dbSNP:rs341785,g1000:0.2530,GnomAD_AC_genome:8183,GnomAD_AN_genome:30830,GnomAD:0.2654;SGVEP=SRGAP3|-|NM_001033117|22|c.2815-88T>C|.|intronic GT:DP:AD:DP4 0/1:12:4,8:1,3,3,5 3 9034558 79554649 C T 692 off_target VARTYPE=1;BGN=0.00140598;ARL=246;DER=51;DEA=48;QR=33;QA=36;PBP=353;PBM=349;TYPE=SNP;DBXREF=dbSNP:rs511815,g1000:0.6548,esp5400:0.6769,ExAC:0.5800,GnomAD_AC_exome:140466,GnomAD_AN_exome:245972,GnomAD_AC_genome:19235,GnomAD_AN_genome:30856,GnomAD:0.5769;SGVEP=SRGAP3|-|NM_001033117|20|c.2486+32G>A|.|intronic GT:DP:AD:DP4 0/1:67:36,31:22,14,16,15 3 9036010 79555743 T G 823 off_target VARTYPE=1;BGN=0.00117154;ARL=236;DER=66;DEA=63;QR=35;QA=37;PBP=407;PBM=424;TYPE=SNP;DBXREF=dbSNP:rs637172,g1000:0.5833,esp5400:0.5986,ExAC:0.5610,GnomAD_AC_exome:135546,GnomAD_AN_exome:243580,GnomAD_AC_genome:17218,GnomAD_AN_genome:30872,GnomAD:0.5566;SGVEP=SRGAP3|-|NM_001033117|19|c.2336+17A>C|.|intronic GT:DP:AD:DP4 0/1:61:27,34:16,11,17,17 3 9055293 79580622 G T 521 off_target VARTYPE=1;BGN=0.00117154;ARL=263;DER=127;DEA=108;QR=31;QA=37;PBP=268;PBM=258;TYPE=SNP;DBXREF=dbSNP:rs35295033,g1000:0.1260,GnomAD_AC_genome:5350,GnomAD_AN_genome:30754,GnomAD:0.1740;SGVEP=SRGAP3|-|NM_001033117|17|c.1848-74C>A|.|intronic GT:DP:AD:DP4 0/1:28:7,20:3,4,10,10 3 9066853 79584082 T C 184 off_target VARTYPE=1;BGN=0.000976189;ARL=238;DER=30;DEA=50;QR=36;QA=38;PBP=92;PBM=97;SP=2;TYPE=SNP;DBXREF=dbSNP:rs421041,g1000:0.7837,GnomAD_AC_genome:22550,GnomAD_AN_genome:30890,GnomAD:0.7300;SGVEP=SRGAP3|-|NM_001033117|14|c.1606+92A>G|.|intronic GT:DP:AD:DP4 0/1:23:15,8:9,6,4,4 3 9069747 79585144 A G 223 off_target VARTYPE=1;BGN=0.000976189;ARL=209;DER=52;DEA=62;QR=35;QA=38;PBP=113;PBM=116;TYPE=SNP;DBXREF=dbSNP:rs416685,g1000:0.8343,esp5400:0.8200,ExAC:0.7750,GnomAD_AC_exome:188865,GnomAD_AN_exome:246232,GnomAD_AC_genome:24100,GnomAD_AN_genome:30952,GnomAD:0.7683;SGVEP=SRGAP3|-|NM_001033117|12|c.1467+37T>C|.|intronic GT:DP:AD:DP4 0/1:32:22,10:12,10,5,5 3 9069873 79585267 A G 166 off_target VARTYPE=1;BGN=0.00117154;ARL=223;DER=50;DEA=55;QR=37;QA=37;PBP=85;PBM=86;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10510396,g1000:0.1855,esp5400:0.2353,GnomAD_AC_genome:6964,GnomAD_AN_genome:30938,GnomAD:0.2251;SGVEP=SRGAP3|-|NM_001033117|12|c.1437-59T>C|.|intronic GT:DP:AD:DP4 0/1:31:23,8:12,11,4,4 3 9743398 80149855 TGGAG T 150 off_target VARTYPE=1;BGN=0.000976189;ARL=232;DER=50;DEA=30;QR=37;QA=152;PBP=89;PBM=66;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs201658912,g1000:0.9079,GnomAD_AC_genome:24922,GnomAD_AN_genome:30642,GnomAD:0.8133;SGVEP=MTMR14|+|NM_001077525|19|c.1770-66_1770-63del|.|intronic GT:DP:AD:DP4 0/1:28:21,7:11,10,4,3 3 9908749 80284676 G C 207 off_target VARTYPE=1;BGN=0.00117154;ARL=247;DER=51;DEA=46;QR=36;QA=37;PBP=118;PBM=94;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1053239,g1000:0.2190,ExAC:0.1870,GnomAD_AC_exome:46705,GnomAD_AN_exome:245766,GnomAD_AC_genome:4532,GnomAD_AN_genome:30956,GnomAD:0.1852;SGVEP=CIDEC|-|NM_001199551|7|c.*69C>G|.|3'UTR GT:DP:AD:DP4 0/1:22:13,9:7,6,5,4 3 9976159 70393 A G 1228 PASS VARTYPE=1;BGN=0.00117154;ARL=233;DEA=79;QA=37;PBP=615;PBM=615;TYPE=SNP;DBXREF=dbSNP:rs279552,g1000:0.9956,esp5400:0.9920,ExAC:0.9920,PhyloP:-0.1600,SIFT:0.5000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9300,MutationTaster:0.0000,GERP:0.3280,GnomAD_AC_exome:244060,GnomAD_AN_exome:246202,GnomAD_AC_genome:30734,GnomAD_AN_genome:30950,GnomAD:0.9915;SGVEP=CRELD1|+|NM_001031717|2|c.37A>G|p.(Met13Val)|missense GT:DP:AD:DP4 1/1:42:0,42:0,0,21,21 3 10091153 80395597 C T 426 low_variant_fraction VARTYPE=1;BGN=0.00117154;ARL=213;DER=82;DEA=90;QR=36;QA=37;PBP=197;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs6785756,esp5400:0.0114,ExAC:0.0140,clinvar:rs6785756,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts;SGVEP=FANCD2|+|NM_001018115|17|c.1509C>T|p.(Asn503:)|synonymous GT:DP:AD:DP4 0/1:220:194,26:97,97,12,14 3 10105439 80402906 A C 176 low_variant_fraction;off_target VARTYPE=1;BGN=0.00117154;ARL=214;DER=43;DEA=20;QR=36;QA=37;PBP=90;PBM=92;SP=0;TYPE=SNP;DBXREF=dbSNP:rs62245514,GnomAD_AC_exome:106,GnomAD_AN_exome:192628,GnomAD:0.0006;SGVEP=FANCD2|+|NM_001018115|21|c.1828-37A>C|.|intronic GT:DP:AD:DP4 0/1:72:62,10:33,29,5,5 3 10106144 70455 C T 939 off_target VARTYPE=1;BGN=0.00140598;ARL=222;DER=52;DEA=31;QR=36;QA=36;PBP=446;PBM=504;TYPE=SNP;DBXREF=dbSNP:rs3864015,clinvar:rs3864015,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=FANCD2|+|NM_001018115|22|c.2021+31C>T|.|intronic GT:DP:AD:DP4 0/1:153:106,47:49,57,22,25 3 10106532 70461 C T 478 low_variant_fraction VARTYPE=1;BGN=0.000976189;ARL=208;DER=70;DEA=67;QR=36;QA=38;PBP=243;PBM=243;TYPE=SNP;DBXREF=dbSNP:rs3864017,esp5400:0.1421,PhyloP:-0.5070,SIFT:0.7630,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:0.7530,MutationTaster:0.0000,GERP:-3.0900,clinvar:rs3864017,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:33851,GnomAD_AN_exome:237500,GnomAD_AC_genome:5592,GnomAD_AN_genome:29896,GnomAD:0.1475;SGVEP=FANCD2|+|NM_001018115|23|c.2141C>T|p.(Pro714Leu)|missense GT:DP:AD:DP4 0/1:240:212,28:106,106,14,14 3 10142949 80427197 C T 310 PASS VARTYPE=1;BGN=0.000976189;ARL=189;DER=52;DEA=52;QR=37;QA=38;PBP=146;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs3172417,g1000:0.2147,esp5400:0.3034,ExAC:0.3290,clinvar:rs3172417,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:81256,GnomAD_AN_exome:245324,GnomAD_AC_genome:9600,GnomAD_AN_genome:30754,GnomAD:0.3291;SGVEP=FANCD2|+|NM_001018115|44|c.*3C>T|.|3'UTR GT:DP:AD:DP4 0/1:30:17,13:8,9,6,7 3 10188428 80447384 T G 275 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=248;DER=66;DEA=18;QR=24;QA=36;PBP=143;PBM=135;TYPE=SNP;DBXREF=dbSNP:rs1678607,g1000:0.8490,GnomAD_AC_genome:27925,GnomAD_AN_genome:30938,GnomAD:0.9026;SGVEP=VHL|+|NM_000551|2|c.463+108T>G|.|intronic GT:DP:AD:DP4 1/1:11:1,10:0,1,5,5 3 10379923 80599018 C T 1254 PASS VARTYPE=1;BGN=0.00117154;ARL=213;DER=104;DEA=101;QR=37;QA=37;PBP=629;PBM=637;TYPE=SNP;DBXREF=dbSNP:rs35678,g1000:0.5679,esp5400:0.4543,ExAC:0.4870,GnomAD_AC_exome:121030,GnomAD_AN_exome:246154,GnomAD:0.4917;SGVEP=ATP2B2|-|NM_001001331|22|c.3357G>A|p.(Ala1119:)|synonymous GT:DP:AD:DP4 0/1:133:77,56:40,37,28,28 3 10382111 80600116 T C 879 off_target VARTYPE=1;BGN=0.00140598;ARL=257;DER=101;DEA=136;QR=35;QA=36;PBP=413;PBM=475;TYPE=SNP;DBXREF=dbSNP:rs171337,g1000:0.7590;SGVEP=ATP2B2|-|NM_001001331|20|c.3129+66A>G|.|intronic GT:DP:AD:DP4 0/1:71:33,38:18,15,18,20 3 10382148 80600190 G A 889 off_target VARTYPE=1;BGN=0.00117154;ARL=254;DER=76;DEA=121;QR=36;QA=37;PBP=434;PBM=464;TYPE=SNP;DBXREF=dbSNP:rs154242,g1000:0.7586,esp5400:0.6142,ExAC:0.6620,GnomAD_AC_exome:163410,GnomAD_AN_exome:246054,GnomAD:0.6641;SGVEP=ATP2B2|-|NM_001001331|20|c.3129+29C>T|.|intronic GT:DP:AD:DP4 0/1:68:31,37:16,15,18,19 3 10387059 80602838 C A 1171 off_target VARTYPE=1;BGN=0.00117154;ARL=221;DER=65;DEA=50;QR=36;QA=37;PBP=614;PBM=567;TYPE=SNP;DBXREF=dbSNP:rs241509,g1000:0.4067,esp5400:0.3280,ExAC:0.4430,GnomAD_AC_exome:111085,GnomAD_AN_exome:245510,GnomAD:0.4525;SGVEP=ATP2B2|-|NM_001001331|18|c.2703+9G>T|.|intronic GT:DP:AD:DP4 0/1:100:50,50:26,24,26,24 3 10400643 80607801 G A 715 off_target VARTYPE=1;BGN=0.00117154;ARL=242;DER=61;DEA=52;QR=35;QA=37;PBP=314;PBM=409;TYPE=SNP;DBXREF=dbSNP:rs28113,g1000:0.6773,esp5400:0.4939,ExAC:0.6310,GnomAD_AC_exome:150671,GnomAD_AN_exome:233414,GnomAD_AC_genome:17048,GnomAD_AN_genome:30780,GnomAD:0.6348;SGVEP=ATP2B2|-|NM_001001331|14|c.1902-34C>T|.|intronic GT:DP:AD:DP4 0/1:79:47,32:22,25,14,18 3 10401856 80608466 G T 304 off_target VARTYPE=1;BGN=0.00168734;ARL=253;DER=68;DEA=33;QR=35;QA=35;PBP=122;PBM=188;TYPE=SNP;DBXREF=dbSNP:rs2278554,g1000:0.4028,esp5400:0.2855,ExAC:0.3930,GnomAD_AC_exome:78172,GnomAD_AN_exome:182538,GnomAD_AC_genome:10495,GnomAD_AN_genome:30782,GnomAD:0.4157;SGVEP=ATP2B2|-|NM_001001331|13|c.1660-49C>A|.|intronic GT:DP:AD:DP4 0/1:43:28,15:13,15,6,9 3 10419856 80612914 C G 710 off_target VARTYPE=1;BGN=0.000976189;ARL=238;DER=60;DEA=47;QR=36;QA=38;PBP=366;PBM=352;TYPE=SNP;DBXREF=dbSNP:rs56113011,g1000:0.2230,GnomAD_AC_genome:5661,GnomAD_AN_genome:30920,GnomAD:0.1831;SGVEP=ATP2B2|-|NM_001001331|10|c.1201+80G>C|.|intronic GT:DP:AD:DP4 0/1:40:13,27:8,5,14,13 3 10420087 80613016 T C 698 PASS VARTYPE=1;BGN=0.00168734;ARL=208;DER=70;DEA=60;QR=36;QA=35;PBP=345;PBM=362;TYPE=SNP;DBXREF=dbSNP:rs751122,g1000:0.4932,esp5400:0.3582,ExAC:0.4080,GnomAD_AC_exome:95561,GnomAD_AN_exome:237156,GnomAD_AC_genome:11893,GnomAD_AN_genome:30920,GnomAD:0.4008;SGVEP=ATP2B2|-|NM_001001331|10|c.1050A>G|p.(Gln350:)|synonymous GT:DP:AD:DP4 0/1:76:43,33:20,23,16,17 3 10420875 80613233 G A 737 off_target VARTYPE=1;BGN=0.00117154;ARL=215;DER=58;DEA=54;QR=37;QA=37;PBP=370;PBM=375;TYPE=SNP;DBXREF=dbSNP:rs4684686,g1000:0.4103,esp5400:0.2953,GnomAD_AC_genome:10031,GnomAD_AN_genome:30930,GnomAD:0.3243;SGVEP=ATP2B2|-|NM_001001331|9|c.1042+52C>T|.|intronic GT:DP:AD:DP4 0/1:70:38,32:20,18,16,16 3 10421107 80613355 A G 135 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=270;DER=83;DEA=10;QR=35;QA=37;PBP=72;PBM=67;SP=2;TYPE=SNP;DBXREF=dbSNP:rs7616000,g1000:0.3626,GnomAD_AC_genome:8921,GnomAD_AN_genome:30886,GnomAD:0.2888;SGVEP=ATP2B2|-|NM_001001331|9|c.1001-139T>C|.|intronic GT:DP:AD:DP4 0/1:17:11,6:4,7,3,3 3 10427013 371241425 T C 768 PASS VARTYPE=1;BGN=0.00168734;ARL=205;DER=64;DEA=87;QR=36;QA=35;PBP=379;PBM=398;TYPE=SNP;DBXREF=PhyloP:2.0230,MutationTaster:1.0000,GERP:5.3400,GnomAD_AC_exome:1,GnomAD_AN_exome:245368,GnomAD:0.0000;SGVEP=ATP2B2|-|NM_001001331|8|c.941-2A>G|p.(?)|splice_acceptor_-2 GT:DP:AD:DP4 0/1:91:54,37:26,28,18,19 3 10442541 80619360 C T 300 off_target VARTYPE=1;BGN=0.00117154;ARL=276;DER=57;DEA=55;QR=37;QA=37;PBP=149;PBM=157;TYPE=SNP;DBXREF=dbSNP:rs56233521,g1000:0.0062,GnomAD_AC_genome:327,GnomAD_AN_genome:30946,GnomAD:0.0106;SGVEP=ATP2B2|-|NM_001001331|5|c.781+96G>A|.|intronic GT:DP:AD:DP4 0/1:20:8,12:5,3,6,6 3 10442779 80619395 C T 712 off_target VARTYPE=1;BGN=0.00140598;ARL=229;DER=57;DEA=72;QR=36;QA=36;PBP=349;PBM=371;TYPE=SNP;DBXREF=dbSNP:rs26797,g1000:0.0931,esp5400:0.2003,ExAC:0.1970,GnomAD_AC_exome:49093,GnomAD_AN_exome:245162,GnomAD_AC_genome:5947,GnomAD_AN_genome:30878,GnomAD:0.1994;SGVEP=ATP2B2|-|NM_001001331|5|c.656-17G>A|.|intronic GT:DP:AD:DP4 0/1:60:29,31:14,15,15,16 3 10452231 80619964 G A 405 off_target VARTYPE=1;BGN=0.00117154;ARL=250;DER=43;DEA=55;QR=34;QA=37;PBP=235;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs34907,g1000:0.5609,GnomAD_AC_genome:12593,GnomAD_AN_genome:30870,GnomAD:0.4079;SGVEP=ATP2B2|-|NM_001001331|3|c.397+71C>T|.|intronic GT:DP:AD:DP4 0/1:25:9,16:4,5,9,7 3 10967739 80896605 T C 1004 PASS VARTYPE=1;BGN=0.00140598;ARL=220;DER=98;DEA=104;QR=36;QA=36;PBP=478;PBM=535;TYPE=SNP;DBXREF=dbSNP:rs2272395,g1000:0.3321,esp5400:0.4467,ExAC:0.3780,GnomAD_AC_exome:90154,GnomAD_AN_exome:244948,GnomAD_AC_genome:13317,GnomAD_AN_genome:30702,GnomAD:0.3754;SGVEP=SLC6A11|+|NM_014229|9|c.1170T>C|p.(Pro390:)|synonymous GT:DP:AD:DP4 0/1:86:42,44:22,20,21,23 3 10975745 80903471 C T 1481 off_target VARTYPE=1;BGN=0.00117154;ARL=217;DER=63;DEA=82;QR=36;QA=37;PBP=743;PBM=750;TYPE=SNP;DBXREF=dbSNP:rs2272399,g1000:0.3508,esp5400:0.2957,ExAC:0.3340,GnomAD_AC_exome:82010,GnomAD_AN_exome:245536,GnomAD_AC_genome:9475,GnomAD_AN_genome:30892,GnomAD:0.3310;SGVEP=SLC6A11|+|NM_014229|12|c.1475-7C>T|.|intronic GT:DP:AD:DP4 0/1:114:52,62:27,25,31,31 3 10975994 80904058 G C 139 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=249;DER=29;DEA=3;QR=30;QA=36;PBP=76;PBM=68;SP=2;TYPE=SNP;DBXREF=dbSNP:rs4434127,g1000:0.2983,GnomAD_AC_genome:11331,GnomAD_AN_genome:30848,GnomAD:0.3673;SGVEP=SLC6A11|+|NM_014229|12|c.1575+142G>C|.|intronic GT:DP:AD:DP4 0/1:13:7,6:2,5,3,3 3 10976876 80905277 A G 669 PASS VARTYPE=1;BGN=0.00117154;ARL=224;DER=61;DEA=70;QR=37;QA=37;PBP=314;PBM=363;TYPE=SNP;DBXREF=dbSNP:rs2245532,g1000:0.3349,esp5400:0.4457,ExAC:0.3590,GnomAD_AC_exome:85272,GnomAD_AN_exome:245582,GnomAD_AC_genome:12979,GnomAD_AN_genome:30882,GnomAD:0.3554;SGVEP=SLC6A11|+|NM_014229|13|c.1737A>G|p.(Thr579:)|synonymous GT:DP:AD:DP4 0/1:75:45,30:22,23,14,16 3 11062062 80974242 C T 546 off_target VARTYPE=1;BGN=0.00117154;ARL=252;DER=76;DEA=78;QR=36;QA=37;PBP=253;PBM=300;TYPE=SNP;DBXREF=dbSNP:rs3774070,g1000:0.2107,GnomAD_AC_genome:4582,GnomAD_AN_genome:30874,GnomAD:0.1484;SGVEP=SLC6A1|+|NM_003042|6|c.581+54C>T|.|intronic GT:DP:AD:DP4 0/1:56:32,24:15,17,11,13 3 11075503 80987176 T C 242 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=236;DER=43;DEA=59;QR=32;QA=36;PBP=129;PBM=119;TYPE=SNP;DBXREF=dbSNP:rs2246543,g1000:0.6983,GnomAD_AC_genome:19745,GnomAD_AN_genome:30862,GnomAD:0.6398;SGVEP=SLC6A1|+|NM_003042|14|c.1527+78T>C|.|intronic GT:DP:AD:DP4 0/1:17:7,10:2,5,5,5 3 11350553 81137932 C T 394 off_target VARTYPE=1;BGN=0.00117154;ARL=222;DER=47;DEA=48;QR=38;QA=37;PBP=200;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs2305686,g1000:0.2684,esp5400:0.1653,ExAC:0.2390,GnomAD_AC_exome:61530,GnomAD_AN_exome:246220,GnomAD_AC_genome:6157,GnomAD_AN_genome:30938,GnomAD:0.2442;SGVEP=ATG7|+|NM_001136031|5|c.411+18C>T|.|intronic GT:DP:AD:DP4 0/1:28:12,16:6,6,8,8 3 11596302 81282935 T C 963 PASS VARTYPE=1;BGN=0.00117154;ARL=221;DER=102;DEA=101;QR=37;QA=37;PBP=498;PBM=474;TYPE=SNP;DBXREF=dbSNP:rs8154,g1000:0.2546,esp5400:0.3277,ExAC:0.2790,GnomAD_AC_exome:66954,GnomAD_AN_exome:243396,GnomAD_AC_genome:9182,GnomAD_AN_genome:30842,GnomAD:0.2776;SGVEP=ATG7|+|NM_001136031|18|c.2016T>C|p.(Asp672:)|synonymous GT:DP:AD:DP4 0/1:82:41,41:21,20,21,20 3 11596348 81283070 C T 907 off_target VARTYPE=1;BGN=0.00117154;ARL=219;DER=88;DEA=56;QR=37;QA=37;PBP=471;PBM=445;TYPE=SNP;DBXREF=dbSNP:rs14016,g1000:0.2819,esp5400:0.1566,ExAC:0.2050,GnomAD_AC_exome:50480,GnomAD_AN_exome:239380,GnomAD_AC_genome:5826,GnomAD_AN_genome:30858,GnomAD:0.2084;SGVEP=ATG7|+|NM_001136031|18|c.*31C>T|.|3'UTR GT:DP:AD:DP4 0/1:81:40,39:20,20,20,19 3 11596402 81283233 C T 703 off_target VARTYPE=1;BGN=0.00117154;ARL=230;DER=42;DEA=50;QR=35;QA=37;PBP=328;PBM=382;TYPE=SNP;DBXREF=dbSNP:rs1046593,g1000:0.1496,esp5400:0.1865,GnomAD_AC_genome:5653,GnomAD_AN_genome:30864,GnomAD:0.1832;SGVEP=ATG7|+|NM_001136031|18|c.*85C>T|.|3'UTR GT:DP:AD:DP4 0/1:44:16,28:8,8,13,15 3 12045986 81547259 G A 351 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=224;DEA=79;QA=37;PBP=205;PBM=147;TYPE=SNP;DBXREF=dbSNP:rs67270413,g1000:1.0000,ExAC:0.9990,GnomAD_AC_exome:76270,GnomAD_AN_exome:76270,GnomAD_AC_genome:30497,GnomAD_AN_genome:30498,GnomAD:1.0000;SGVEP=SYN2|+|NM_003178|1|c.-40G>A|.|invalid-transcript GT:DP:AD:DP4 1/1:12:0,12:0,0,7,5 3 12046013 81547280 A C 498 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=210;DEA=85;QA=37;PBP=264;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs72624441,g1000:1.0000,ExAC:0.9990,GnomAD_AC_exome:143275,GnomAD_AN_exome:143290,GnomAD_AC_genome:30472,GnomAD_AN_genome:30472,GnomAD:0.9999;SGVEP=SYN2|+|NM_003178|1|c.-13A>C|.|invalid-transcript GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 3 12046076 81547287 T C 556 low_coverage VARTYPE=1;BGN=0.00117154;ARL=199;DEA=64;QA=37;PBP=264;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs2618395,g1000:1.0000,ExAC:1.0000,GnomAD_AC_exome:166747,GnomAD_AN_exome:166748,GnomAD_AC_genome:28916,GnomAD_AN_genome:28916,GnomAD:1.0000;SGVEP=SYN2|+|NM_003178|1|c.51T>C|.|invalid-transcript GT:DP:AD:DP4 1/1:19:0,19:0,0,9,10 3 12046297 81547329 A C 370 low_coverage VARTYPE=1;BGN=0.00140598;ARL=203;DEA=34;QA=36;PBP=200;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs71624923,g1000:1.0000,ExAC:0.9960,PhyloP:0.0020,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0010,GERP:2.1700,GnomAD_AC_genome:25508,GnomAD_AN_genome:25512,GnomAD:0.9998;SGVEP=SYN2|+|NM_003178|2|c.246A>C|.|invalid-transcript GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 3 12046318 81547331 G C 498 low_coverage VARTYPE=1;BGN=0.00117154;ARL=203;DEA=45;QA=37;PBP=264;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs2923854,g1000:1.0000,ExAC:0.9980,GnomAD_AC_exome:2,GnomAD_AN_exome:2,GnomAD_AC_genome:25772,GnomAD_AN_genome:25774,GnomAD:0.9999;SGVEP=SYN2|+|NM_003178|2|c.267G>C|.|invalid-transcript GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 3 12046321 81547332 A G 513 low_coverage VARTYPE=1;BGN=0.00140598;ARL=193;DEA=44;QA=36;PBP=257;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs2923855,g1000:1.0000,ExAC:0.9980,GnomAD_AC_exome:2,GnomAD_AN_exome:2,GnomAD_AC_genome:25774,GnomAD_AN_genome:25776,GnomAD:0.9999;SGVEP=SYN2|+|NM_003178|2|c.270A>G|.|invalid-transcript GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 3 12046362 81547340 G C 585 PASS VARTYPE=1;BGN=0.00117154;ARL=205;DEA=85;QA=37;PBP=293;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs2923856,g1000:1.0000,ExAC:1.0000,PhyloP:0.0560,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:2.3300,GnomAD_AC_exome:37066,GnomAD_AN_exome:37066,GnomAD_AC_genome:30351,GnomAD_AN_genome:30356,GnomAD:0.9999;SGVEP=SYN2|+|NM_003178|2|c.311G>C|.|invalid-transcript GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 3 12046364 81547342 G C 615 PASS VARTYPE=1;BGN=0.00117154;ARL=205;DEA=83;QA=37;PBP=293;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs2923857,g1000:0.9263,esp5400:0.8883,ExAC:0.7990,PhyloP:0.0270,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-0.2710,GnomAD_AC_exome:32671,GnomAD_AN_exome:37866,GnomAD_AC_genome:26678,GnomAD_AN_genome:30340,GnomAD:0.8701;SGVEP=SYN2|+|NM_003178|2|c.313G>C|.|invalid-transcript GT:DP:AD:DP4 1/1:21:0,21:0,0,10,11 3 12046372 81547345 G C 684 PASS VARTYPE=1;BGN=0.00140598;ARL=195;DEA=81;QA=36;PBP=342;PBM=342;TYPE=SNP;DBXREF=dbSNP:rs2623877,g1000:1.0000,ExAC:0.9990,GnomAD_AC_exome:46079,GnomAD_AN_exome:46084,GnomAD_AC_genome:30478,GnomAD_AN_genome:30480,GnomAD:0.9999;SGVEP=SYN2|+|NM_003178|2|c.321G>C|.|invalid-transcript GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 3 12046445 81547355 T G 513 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=202;DEA=62;QA=36;PBP=228;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs2600235,g1000:0.9263,esp5400:0.8768,ExAC:0.7400,GnomAD_AC_exome:11396,GnomAD_AN_exome:13510,GnomAD_AC_genome:26806,GnomAD_AN_genome:30476,GnomAD:0.8685;SGVEP=SYN2|+|NM_003178|2|c.377+17T>G|.|invalid-transcript GT:DP:AD:DP4 1/1:18:0,18:0,0,8,10 3 12046446 81547357 T C 513 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=202;DEA=61;QA=36;PBP=228;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs2623879,g1000:0.9263,esp5400:0.8755,ExAC:0.7410,GnomAD_AC_exome:11019,GnomAD_AN_exome:13064,GnomAD_AC_genome:26815,GnomAD_AN_genome:30478,GnomAD:0.8689;SGVEP=SYN2|+|NM_003178|2|c.377+18T>C|.|invalid-transcript GT:DP:AD:DP4 1/1:18:0,18:0,0,8,10 3 12208652 81630246 A G 684 off_target VARTYPE=1;BGN=0.00140598;ARL=236;DEA=48;QA=36;PBP=342;PBM=342;TYPE=SNP;DBXREF=dbSNP:rs795008,g1000:0.9960,GnomAD_AC_genome:30742,GnomAD_AN_genome:30974,GnomAD:0.9925;SGVEP=SYN2|+|NM_003178|9|c.981-82A>G|.|invalid-transcript GT:DP:AD:DP4 1/1:24:0,24:0,0,12,12 3 12208671 81630248 G T 1082 off_target VARTYPE=1;BGN=0.00117154;ARL=220;DER=12;DEA=51;QR=17;QA=37;PBP=556;PBM=527;TYPE=SNP;DBXREF=dbSNP:rs795009,g1000:0.7204,esp5400:0.7239,GnomAD_AC_genome:22182,GnomAD_AN_genome:30936,GnomAD:0.7170;SGVEP=SYN2|+|NM_003178|9|c.981-63G>T|.|invalid-transcript GT:DP:AD:DP4 1/1:37:0,37:0,0,19,18 3 12229015 81632081 A G 3202 PASS VARTYPE=1;BGN=0.00117154;ARL=217;DEA=101;QA=37;PBP=1577;PBM=1636;TYPE=SNP;DBXREF=dbSNP:rs794999,g1000:0.6889,esp5400:0.7107,ExAC:0.6690,PhyloP:0.8780,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0020,LRT:0.9920,MutationTaster:0.0010,GERP:2.4700,GnomAD_AC_exome:114865,GnomAD_AN_exome:150550,GnomAD_AC_genome:21380,GnomAD_AN_genome:30740,GnomAD:0.7515;SGVEP=SYN2|+|NM_003178|12|.|.|invalid-transcript GT:DP:AD:DP4 1/1:110:0,110:0,0,54,56 3 12229237 81632105 TGG TG 128 low_coverage;off_target VARTYPE=1;BGN=0.0134795;ARL=247;DER=10;DEA=41;QR=28;QA=37;HL=2;PBP=46;PBM=86;SP=3;TYPE=INDEL;DBXREF=dbSNP:rs398051583,g1000:0.6222,GnomAD_AC_genome:19457,GnomAD_AN_genome:30688,GnomAD:0.6340;SGVEP=SYN2|+|NM_003178|12|.|.|invalid-transcript GT:DP:AD:DP4 0/1:11:3,8:2,1,3,5 3 12232074 81632430 A G 3116 PASS VARTYPE=1;BGN=0.00117154;ARL=224;DEA=102;QA=37;PBP=1577;PBM=1548;TYPE=SNP;DBXREF=dbSNP:rs310764,g1000:0.9611,esp5400:0.9236,ExAC:0.9330,GnomAD_AC_exome:229003,GnomAD_AN_exome:245174,GnomAD_AC_genome:28980,GnomAD_AN_genome:30948,GnomAD:0.9343;SGVEP=SYN2|+|NM_003178|12|.|.|invalid-transcript GT:DP:AD:DP4 1/1:107:0,107:0,0,54,53 3 12232208 81632465 T G 451 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=251;DEA=50;QA=38;PBP=211;PBM=241;TYPE=SNP;DBXREF=dbSNP:rs310765,g1000:0.9619,GnomAD_AC_genome:28995,GnomAD_AN_genome:30950,GnomAD:0.9368;SGVEP=SYN2|+|NM_003178|12|.|.|invalid-transcript GT:DP:AD:DP4 1/1:15:0,15:0,0,7,8 3 12537955 81805689 T A 527 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=254;DEA=86;QA=37;PBP=293;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs299651,g1000:0.3664,esp5400:0.5053,GnomAD_AC_genome:15109,GnomAD_AN_genome:30938,GnomAD:0.4884;SGVEP=TSEN2|+|NM_001145392|4|c.272-62T>A|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,10,8 3 12560763 81813100 A T 939 off_target VARTYPE=1;BGN=0.00140598;ARL=240;DEA=25;QA=36;PBP=484;PBM=456;TYPE=SNP;DBXREF=dbSNP:rs1618545,g1000:0.3702,GnomAD_AC_genome:15026,GnomAD_AN_genome:30924,GnomAD:0.4859;SGVEP=TSEN2|+|NM_001145392|8|c.1099+67A>T|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,17,16 3 12626516 70987 G A 262 off_target VARTYPE=1;BGN=0.00117154;ARL=263;DER=92;DEA=113;QR=34;QA=37;PBP=112;PBM=156;TYPE=SNP;DBXREF=dbSNP:rs3729931,g1000:0.3646,esp5400:0.4395,ExAC:0.3500,clinvar:rs3729931,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:86655,GnomAD_AN_exome:245718,GnomAD_AC_genome:12893,GnomAD_AN_genome:30868,GnomAD:0.3599;SGVEP=RAF1|-|NM_002880|16|c.1669-36C>T|.|intronic GT:DP:AD:DP4 0/1:35:23,12:10,13,5,7 3 12650482 81868793 T A 644 off_target VARTYPE=1;BGN=0.00117154;ARL=237;DEA=70;QA=37;PBP=322;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs2454440,g1000:1.0000,GnomAD_AC_genome:30980,GnomAD_AN_genome:30980,GnomAD:1.0000;SGVEP=RAF1|-|NM_002880|5|c.424-60A>T|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 3 12660291 81874620 C T 139 off_target VARTYPE=1;BGN=0.00168734;ARL=241;DER=29;DEA=29;QR=37;QA=35;PBP=61;PBM=82;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3729926,g1000:0.9125,GnomAD_AC_genome:25884,GnomAD_AN_genome:30958,GnomAD:0.8361;SGVEP=RAF1|-|NM_002880|2|c.-26-45G>A|.|intronic GT:DP:AD:DP4 0/1:24:17,7:8,9,3,4 3 13860957 82674548 A G 1519 off_target VARTYPE=1;BGN=0.00117154;ARL=228;DEA=46;QA=37;PBP=673;PBM=848;TYPE=SNP;DBXREF=dbSNP:rs79020924,g1000:0.1266,esp5400:0.1546,ExAC:0.1810,GnomAD_AC_exome:43811,GnomAD_AN_exome:233642,GnomAD_AC_genome:4591,GnomAD_AN_genome:30890,GnomAD:0.1830;SGVEP=WNT7A|-|NM_004625|4|c.571-37T>C|.|intronic GT:DP:AD:DP4 1/1:52:0,52:0,0,23,29 3 13916407 82696290 G T 879 off_target VARTYPE=1;BGN=0.00117154;ARL=237;DER=50;DEA=38;QR=36;QA=37;PBP=474;PBM=414;TYPE=SNP;DBXREF=dbSNP:rs3749319,g1000:0.5381,esp5400:0.4783,ExAC:0.5570,GnomAD_AC_exome:134091,GnomAD_AN_exome:233708,GnomAD_AC_genome:15420,GnomAD_AN_genome:30878,GnomAD:0.5651;SGVEP=WNT7A|-|NM_004625|2|c.298+37C>A|.|intronic GT:DP:AD:DP4 0/1:71:34,37:20,14,20,17 3 14173963 82830814 G T 310 off_target VARTYPE=1;BGN=0.00140598;ARL=244;DER=26;DEA=102;QR=34;QA=36;PBP=171;PBM=144;TYPE=SNP;DBXREF=dbSNP:rs4685074,g1000:0.4563,GnomAD_AC_genome:10741,GnomAD_AN_genome:30832,GnomAD:0.3484;SGVEP=TMEM43|+|NM_024334|5|c.393-83G>T|.|intronic GT:DP:AD:DP4 0/1:23:10,13:5,5,7,6 3 14174146 82831325 T C 290 off_target VARTYPE=1;BGN=0.00168734;ARL=245;DER=63;DEA=69;QR=36;QA=35;PBP=125;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs4685075,g1000:0.5573,esp5400:0.4641,ExAC:0.4690,GnomAD_AC_exome:116641,GnomAD_AN_exome:243870,GnomAD_AC_genome:15077,GnomAD_AN_genome:30816,GnomAD:0.4795;SGVEP=TMEM43|+|NM_024334|5|c.442+51T>C|.|intronic GT:DP:AD:DP4 0/1:37:23,14:11,12,6,8 3 14174427 71243 A T 401 PASS VARTYPE=1;BGN=0.000976189;ARL=231;DER=102;DEA=71;QR=37;QA=38;PBP=179;PBM=230;TYPE=SNP;DBXREF=dbSNP:rs4685076,g1000:0.3526,esp5400:0.2869,ExAC:0.3210,PhyloP:0.2980,SIFT:0.7810,PolyPhen2:0.1230,PolyPhen2_HumDiv:0.2030,LRT:1.0000,MutationTaster:0.9830,GERP:1.5600,clinvar:rs4685076,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:80036,GnomAD_AN_exome:246198,GnomAD_AC_genome:9164,GnomAD_AN_genome:30868,GnomAD:0.3219;SGVEP=TMEM43|+|NM_024334|6|c.504A>T|p.(Lys168Asn)|missense GT:DP:AD:DP4 0/1:54:36,18:18,18,8,10 3 14175262 71247 T C 564 PASS VARTYPE=1;BGN=0.00117154;ARL=224;DER=99;DEA=94;QR=37;QA=37;PBP=277;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs2340917,g1000:0.4633,esp5400:0.3346,ExAC:0.3720,PhyloP:1.2460,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0010,GERP:5.3200,clinvar:rs2340917,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:93131,GnomAD_AN_exome:246252,GnomAD_AC_genome:10997,GnomAD_AN_genome:30846,GnomAD:0.3758;SGVEP=TMEM43|+|NM_024334|7|c.536T>C|p.(Met179Thr)|missense GT:DP:AD:DP4 0/1:40:17,23:7,10,11,12 3 14176446 82833854 G A 932 off_target VARTYPE=1;BGN=0.000976189;ARL=236;DER=36;DEA=44;QR=35;QA=38;PBP=442;PBM=498;TYPE=SNP;DBXREF=dbSNP:rs6766740,g1000:0.3508,GnomAD_AC_genome:8999,GnomAD_AN_genome:30814,GnomAD:0.2920;SGVEP=TMEM43|+|NM_024334|8|c.705+55G>A|.|intronic GT:DP:AD:DP4 0/1:56:20,36:10,10,17,19 3 14177251 82870873 G A 708 off_target VARTYPE=1;BGN=0.00117154;ARL=218;DER=41;DEA=42;QR=36;QA=37;PBP=382;PBM=332;TYPE=SNP;DBXREF=dbSNP:rs3796311,g1000:0.2019,GnomAD_AC_genome:6826,GnomAD_AN_genome:30870,GnomAD:0.2211;SGVEP=TMEM43|+|NM_024334|10|c.781-56G>A|.|intronic GT:DP:AD:DP4 0/1:43:15,28:8,7,15,13 3 14187449 71330 G T 737 PASS VARTYPE=1;BGN=0.00117154;ARL=215;DER=53;DEA=55;QR=37;QA=37;PBP=373;PBM=373;TYPE=SNP;DBXREF=dbSNP:rs2228001,g1000:0.6847,esp5400:0.6426,ExAC:0.6310,PhyloP:0.8820,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:4.2400,clinvar:rs2228001,CLNSIG:drug_response,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:155061,GnomAD_AN_exome:244480,GnomAD_AC_genome:20208,GnomAD_AN_genome:30826,GnomAD:0.6366;SGVEP=XPC|-|NM_004628|16|c.2815C>A|p.(Gln939Lys)|missense GT:DP:AD:DP4 0/1:70:38,32:19,19,16,16 3 14188700 82882261 C A 157 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=269;DER=103;DEA=104;QR=37;QA=38;PBP=80;PBM=80;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2733533,g1000:0.3289,GnomAD_AC_genome:12674,GnomAD_AN_genome:30882,GnomAD:0.4104;SGVEP=XPC|-|NM_004628|15|c.2604+90G>T|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 3 14188762 82882426 G C 661 off_target VARTYPE=1;BGN=0.000976189;ARL=205;DER=64;DEA=65;QR=36;QA=38;PBP=334;PBM=334;TYPE=SNP;DBXREF=dbSNP:rs2733534,g1000:0.3279,esp5400:0.4252,ExAC:0.3880,clinvar:rs2733534,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:86126,GnomAD_AN_exome:209032,GnomAD_AC_genome:12664,GnomAD_AN_genome:30870,GnomAD:0.4118;SGVEP=XPC|-|NM_004628|15|c.2604+28C>G|.|intronic GT:DP:AD:DP4 0/1:44:18,26:9,9,13,13 3 14189340 82883025 A G 468 off_target VARTYPE=1;BGN=0.00140598;ARL=220;DER=92;DEA=27;QR=35;QA=36;PBP=224;PBM=250;TYPE=SNP;DBXREF=dbSNP:rs2607749,g1000:0.3680,GnomAD_AC_genome:13623,GnomAD_AN_genome:30888,GnomAD:0.4410;SGVEP=XPC|-|NM_004628|14|c.2514+68T>C|.|intronic GT:DP:AD:DP4 0/1:29:10,19:5,5,9,10 3 14190237 71346 T G 974 off_target VARTYPE=1;BGN=0.00117154;ARL=234;DER=115;DEA=103;QR=36;QA=37;PBP=507;PBM=477;TYPE=SNP;DBXREF=dbSNP:rs2279017,g1000:0.6797,esp5400:0.6348,ExAC:0.6300,clinvar:rs2279017,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:155698,GnomAD_AN_exome:245818,GnomAD_AC_genome:20058,GnomAD_AN_genome:30848,GnomAD:0.6353;SGVEP=XPC|-|NM_004628|13|c.2251-6A>C|.|intronic GT:DP:AD:DP4 0/1:99:56,43:27,29,22,21 3 14190268 82884832 G C 1049 off_target VARTYPE=1;BGN=0.00140598;ARL=236;DER=111;DEA=101;QR=35;QA=36;PBP=558;PBM=501;TYPE=SNP;DBXREF=dbSNP:rs2470353,g1000:0.3279,esp5400:0.4230,ExAC:0.4120,clinvar:rs2470353,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:101407,GnomAD_AN_exome:245242,GnomAD_AC_genome:12654,GnomAD_AN_genome:30864,GnomAD:0.4131;SGVEP=XPC|-|NM_004628|13|c.2251-37C>G|.|intronic GT:DP:AD:DP4 0/1:90:44,46:21,23,24,22 3 14193889 71352 C T 699 PASS VARTYPE=1;BGN=0.00117154;ARL=207;DER=87;DEA=99;QR=37;QA=37;PBP=314;PBM=393;TYPE=SNP;DBXREF=dbSNP:rs2227998,g1000:0.2354,esp5400:0.2634,ExAC:0.2540,PhyloP:2.3420,SIFT:0.0170,MutationTaster:1.0000,GERP:5.0500,clinvar:rs2227998,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:61538,GnomAD_AN_exome:242886,GnomAD_AC_genome:7913,GnomAD_AN_genome:30902,GnomAD:0.2537;SGVEP=XPC|-|NM_004628|11|c.2061G>A|p.(Arg687:)|synonymous GT:DP:AD:DP4 0/1:74:43,31:22,21,14,17 3 14197987 71356 A T 1403 PASS VARTYPE=1;BGN=0.00117154;ARL=236;DEA=79;QA=37;PBP=702;PBM=702;TYPE=SNP;DBXREF=dbSNP:rs2958057,g1000:1.0000,ExAC:1.0000,clinvar:rs2958057,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:246130,GnomAD_AN_exome:246130,GnomAD_AC_genome:30988,GnomAD_AN_genome:30988,GnomAD:1.0000;SGVEP=XPC|-|NM_004628|10|c.1881T>A|p.(Ala627:)|synonymous GT:DP:AD:DP4 1/1:48:0,48:0,0,24,24 3 14208625 82901203 G C 529 off_target VARTYPE=1;BGN=0.00117154;ARL=253;DER=21;DEA=65;QR=37;QA=37;PBP=277;PBM=258;TYPE=SNP;DBXREF=dbSNP:rs3729587,g1000:0.3556,esp5400:0.3330,ExAC:0.2990,clinvar:rs3729587,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:54507,GnomAD_AN_exome:177912,GnomAD_AC_genome:10203,GnomAD_AN_genome:30892,GnomAD:0.3099;SGVEP=XPC|-|NM_004628|5|c.621+44C>G|.|intronic GT:DP:AD:DP4 0/1:33:12,21:7,5,11,10 3 14211865 82904004 C A 119 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=231;DER=40;DEA=22;QR=37;QA=38;PBP=73;PBM=50;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3731081,g1000:0.1973,GnomAD_AC_genome:6787,GnomAD_AN_genome:30932,GnomAD:0.2194;SGVEP=XPC|-|NM_004628|3|c.412+73G>T|.|intronic GT:DP:AD:DP4 0/1:13:8,5:5,3,3,2 3 14220095 82908661 C G 926 PASS VARTYPE=1;BGN=0.00117154;ARL=226;DER=75;DEA=60;QR=34;QA=37;PBP=444;PBM=490;TYPE=SNP;DBXREF=dbSNP:rs2607775,g1000:0.3279,esp5400:0.4302,ExAC:0.4140,clinvar:rs2607775,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:101327,GnomAD_AN_exome:243020,GnomAD_AC_genome:12828,GnomAD_AN_genome:30872,GnomAD:0.4168;SGVEP=XPC|-|NM_004628|1|c.-27G>C|.|5'UTR GT:DP:AD:DP4 0/1:66:26,38:12,14,18,20 3 14444243 83043325 CT C 10000 PASS VARTYPE=1;BGN=0.00117154;ARL=223;DER=5;DEA=111;QR=36;QA=37;PBP=3022;PBM=2990;TYPE=INDEL;DBXREF=dbSNP:rs67046817,g1000:1.0000,GnomAD_AC_genome:29362,GnomAD_AN_genome:29362,GnomAD:1.0000;SGVEP=SLC6A6|+|NM_001134368|1|c.-165del|.|5'UTR GT:DP:AD:DP4 1/1:222:10,212:6,4,107,105 3 14444249 83043334 CT C 10000 PASS VARTYPE=1;BGN=0.00117154;ARL=226;DEA=109;QA=37;PBP=3174;PBM=3087;TYPE=INDEL;DBXREF=dbSNP:rs66528743,g1000:1.0000,GnomAD_AC_genome:29346,GnomAD_AN_genome:29346,GnomAD:1.0000;SGVEP=SLC6A6|+|NM_001134368|1|c.-159del|.|5'UTR GT:DP:AD:DP4 1/1:215:0,215:0,0,109,106 3 14444276 83043342 GCC GC 10000 PASS VARTYPE=1;BGN=0.0134795;ARL=226;DER=68;DEA=110;QR=35;QA=36;HL=2;PBP=2154;PBM=2061;TYPE=INDEL;DBXREF=dbSNP:rs397988769,g1000:1.0000,GnomAD_AC_genome:29314,GnomAD_AN_genome:29314,GnomAD:1.0000;SGVEP=SLC6A6|+|NM_001134368|1|c.-131del|.|5'UTR GT:DP:AD:DP4 1/1:251:14,237:7,7,121,116 3 14444285 83043365 GCC GC 10000 PASS VARTYPE=1;BGN=0.0134795;ARL=226;DER=91;DEA=106;QR=32;QA=35;HL=2;PBP=2068;PBM=1983;TYPE=INDEL;DBXREF=dbSNP:rs397988770,g1000:1.0000,GnomAD_AC_genome:29304,GnomAD_AN_genome:29304,GnomAD:1.0000;SGVEP=SLC6A6|+|NM_001134368|1|c.-122del|.|5'UTR GT:DP:AD:DP4 1/1:247:17,230:8,9,117,113 3 14444308 83043372 CT C 10000 PASS VARTYPE=1;BGN=0.00140598;ARL=226;DER=52;DEA=104;QR=24;QA=36;PBP=10000;PBM=3127;TYPE=INDEL;DBXREF=dbSNP:rs68047955,g1000:1.0000,GnomAD_AC_genome:29319,GnomAD_AN_genome:29320,GnomAD:1.0000;SGVEP=SLC6A6|+|NM_001134368|1|c.-100del|.|5'UTR GT:DP:AD:DP4 1/1:233:4,229:3,1,118,111 3 14444318 83043382 CT C 10000 PASS VARTYPE=1;BGN=0.00140598;ARL=226;DER=40;DEA=105;QR=34;QA=36;PBP=3149;PBM=3070;TYPE=INDEL;DBXREF=dbSNP:rs67637606,g1000:1.0000,GnomAD_AC_genome:29324,GnomAD_AN_genome:29324,GnomAD:1.0000;SGVEP=SLC6A6|+|NM_001134368|1|c.-90del|.|5'UTR GT:DP:AD:DP4 1/1:226:4,222:3,1,113,109 3 14444326 83043386 AT A 10000 PASS VARTYPE=1;BGN=0.00168734;ARL=225;DER=1;DEA=109;QR=34;QA=35;PBP=3062;PBM=2762;TYPE=INDEL;DBXREF=dbSNP:rs66654032,g1000:0.4034,GnomAD_AC_genome:29290,GnomAD_AN_genome:29290,GnomAD:1.0000;SGVEP=SLC6A6|+|NM_001134367|7|c.228del|p.(Asp76Glufs*19)|frameshift GT:DP:AD:DP4 1/1:219:3,213:0,3,111,102 3 14444329 83043402 CT C 10000 PASS VARTYPE=1;BGN=0.00140598;ARL=224;DER=143;DEA=111;QR=38;QA=36;PBP=3147;PBM=2798;TYPE=INDEL;DBXREF=dbSNP:rs67559364,GnomAD_AC_genome:29290,GnomAD_AN_genome:29290,GnomAD:1.0000;SGVEP=SLC6A6|+|NM_001134368|1|c.-79del|.|5'UTR GT:DP:AD:DP4 1/1:216:1,212:0,1,111,101 3 14485484 83054818 C A 333 off_target VARTYPE=1;BGN=0.00168734;ARL=260;DER=22;DEA=44;QR=36;QA=35;PBP=147;PBM=191;TYPE=SNP;DBXREF=dbSNP:rs36107877,g1000:0.3041,ExAC:0.2420,GnomAD_AC_exome:33122,GnomAD_AN_exome:98862,GnomAD_AC_genome:9012,GnomAD_AN_genome:30842,GnomAD:0.3248;SGVEP=SLC6A6|+|NM_001134367|10|c.532+113C>A|.|intronic GT:DP:AD:DP4 0/1:22:8,14:3,5,6,8 3 14489057 83063882 G A 648 off_target VARTYPE=1;BGN=0.00140598;ARL=249;DER=54;DEA=55;QR=36;QA=36;PBP=324;PBM=332;TYPE=SNP;DBXREF=dbSNP:rs77074078,g1000:0.0491,esp5400:0.0353,ExAC:0.0480,GnomAD_AC_exome:11855,GnomAD_AN_exome:242794,GnomAD_AC_genome:1042,GnomAD_AN_genome:30962,GnomAD:0.0471;SGVEP=SLC6A6|+|NM_001134367|12|c.668-33G>A|.|intronic GT:DP:AD:DP4 0/1:74:44,30:24,20,15,15 3 14489370 83064181 G T 1309 off_target VARTYPE=1;BGN=0.00140598;ARL=218;DEA=44;QA=36;PBP=627;PBM=684;TYPE=SNP;DBXREF=dbSNP:rs2304511,g1000:0.2214,esp5400:0.2727,ExAC:0.2220,GnomAD_AC_exome:52008,GnomAD_AN_exome:230470,GnomAD_AC_genome:7522,GnomAD_AN_genome:30922,GnomAD:0.2277;SGVEP=SLC6A6|+|NM_001134367|12|c.902+46G>T|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,22,24 3 14513695 83074997 G A 2478 off_target VARTYPE=1;BGN=0.00117154;ARL=226;DEA=63;QA=37;PBP=1286;PBM=1199;TYPE=SNP;DBXREF=dbSNP:rs2289128,g1000:0.1042,esp5400:0.0666,ExAC:0.0770,GnomAD_AC_exome:18237,GnomAD_AN_exome:244094,GnomAD_AC_genome:1911,GnomAD_AN_genome:30916,GnomAD:0.0733;SGVEP=SLC6A6|+|NM_001134367|17|c.1400-18G>A|.|intronic GT:DP:AD:DP4 1/1:85:0,85:0,0,44,41 3 14513925 83075185 C T 416 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=262;DEA=32;QA=35;PBP=194;PBM=222;TYPE=SNP;DBXREF=dbSNP:rs2289127,g1000:0.1184,GnomAD_AC_genome:2265,GnomAD_AN_genome:30946,GnomAD:0.0732;SGVEP=SLC6A6|+|NM_001134367|17|c.1512+100C>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,7,8 3 14519885 83077863 A T 314 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=235;DER=19;DEA=44;QR=37;QA=37;PBP=157;PBM=161;TYPE=SNP;DBXREF=dbSNP:rs2241781,g1000:0.3978,GnomAD_AC_genome:8685,GnomAD_AN_genome:30860,GnomAD:0.2814;SGVEP=SLC6A6|+|NM_001134367|19|c.1651-89A>T|.|intronic GT:DP:AD:DP4 0/1:17:5,12:3,2,6,6 3 14520164 83078098 A G 154 off_target VARTYPE=1;BGN=0.00243023;ARL=260;DER=45;DEA=31;QR=37;QA=33;PBP=79;PBM=79;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2241780,g1000:0.4265,GnomAD_AC_genome:9754,GnomAD_AN_genome:30918,GnomAD:0.3155;SGVEP=SLC6A6|+|NM_001134367|19|c.1753+88A>G|.|intronic GT:DP:AD:DP4 0/1:22:14,8:7,7,4,4 3 14526538 83081234 G A 1649 PASS VARTYPE=1;BGN=0.000976189;ARL=222;DEA=50;QA=38;PBP=781;PBM=871;TYPE=SNP;DBXREF=dbSNP:rs1062540,g1000:0.2422,esp5400:0.3700,ExAC:0.3810,GnomAD_AC_exome:91817,GnomAD_AN_exome:232546,GnomAD_AC_genome:11047,GnomAD_AN_genome:30774,GnomAD:0.3906;SGVEP=SLC6A6|+|NM_001134367|22|c.*23G>A|.|3'UTR GT:DP:AD:DP4 1/1:55:0,55:0,0,26,29 3 15507761 83701359 G A 301 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=256;DEA=50;QA=38;PBP=181;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs3732722,g1000:0.4627,GnomAD_AC_genome:12886,GnomAD_AN_genome:30908,GnomAD:0.4169;SGVEP=COLQ|-|NM_005677|12|c.814+87C>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,6,4 3 15515695 83702859 C T 1082 off_target VARTYPE=1;BGN=0.00117154;ARL=246;DEA=93;QA=37;PBP=556;PBM=527;TYPE=SNP;DBXREF=dbSNP:rs2305616,g1000:0.4796,esp5400:0.4737,ExAC:0.4310,PhyloP:-0.6720,MutationTaster:0.0000,GERP:-0.7180,clinvar:rs2305616,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:105050,GnomAD_AN_exome:246060,GnomAD_AC_genome:13908,GnomAD_AN_genome:30868,GnomAD:0.4296;SGVEP=COLQ|-|NM_005677|9|c.600+40G>A|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,19,18 3 15516481 83703054 T C 644 off_target VARTYPE=1;BGN=0.00117154;ARL=246;DEA=63;QA=37;PBP=322;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs924812,g1000:0.3860,esp5400:0.3695,ExAC:0.3820,clinvar:rs924812,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:94189,GnomAD_AN_exome:246052,GnomAD_AC_genome:11258,GnomAD_AN_genome:30882,GnomAD:0.3808;SGVEP=COLQ|-|NM_005677|8|c.529-23A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 3 15516910 83703148 T C 570 off_target VARTYPE=1;BGN=0.00140598;ARL=226;DEA=59;QA=36;PBP=314;PBM=257;TYPE=SNP;DBXREF=dbSNP:rs3816526,g1000:0.3860,esp5400:0.3680,ExAC:0.3500,clinvar:rs3816526,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:75510,GnomAD_AN_exome:196520,GnomAD_AC_genome:11268,GnomAD_AN_genome:30902,GnomAD:0.3816;SGVEP=COLQ|-|NM_005677|7|c.528+22A>G|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,11,9 3 15517025 83703212 G A 732 off_target VARTYPE=1;BGN=0.00117154;ARL=223;DEA=79;QA=37;PBP=351;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs2305615,g1000:0.4822,esp5400:0.4774,ExAC:0.3710,GnomAD_AC_exome:73729,GnomAD_AN_exome:171746,GnomAD_AC_genome:14076,GnomAD_AN_genome:30872,GnomAD:0.4334;SGVEP=COLQ|-|NM_005677|7|c.466-31C>T|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,12,13 3 15518731 83703507 G C 1315 off_target VARTYPE=1;BGN=0.00117154;ARL=215;DEA=49;QA=37;PBP=615;PBM=702;TYPE=SNP;DBXREF=dbSNP:rs2305612,g1000:0.4024,esp5400:0.3802,ExAC:0.3640,clinvar:rs2305612,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:80008,GnomAD_AN_exome:201974,GnomAD_AC_genome:11661,GnomAD_AN_genome:30844,GnomAD:0.3937;SGVEP=COLQ|-|NM_005677|6|c.394-27C>G|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,21,24 3 15520639 83703898 T G 182 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=285;DER=51;DEA=50;QR=38;QA=38;PBP=84;PBM=102;SP=2;TYPE=SNP;DBXREF=dbSNP:rs2290538,g1000:0.2478,GnomAD_AC_genome:7615,GnomAD_AN_genome:30918,GnomAD:0.2463;SGVEP=COLQ|-|NM_005677|5|c.367-129A>C|.|intronic GT:DP:AD:DP4 0/1:12:5,7:1,4,3,4 3 15539976 83707193 C CCACACA 210 off_target VARTYPE=1;BGN=0.000976189;ARL=217;DER=48;DEA=67;QR=36;QA=221;PBP=107;PBM=109;TYPE=INDEL;DBXREF=dbSNP:rs60324043,g1000:0.2089,ExAC:0.1010,GnomAD_AC_exome:22989,GnomAD_AN_exome:97984,GnomAD_AC_genome:7009,GnomAD_AN_genome:29896,GnomAD:0.2346;SGVEP=COLQ|-|NM_005677|2|c.107-8838_107-8833dup|.|intronic GT:DP:AD:DP4 0/1:41:24,10:13,11,5,5 3 15686693 71678 G C 510 PASS VARTYPE=1;BGN=0.00117154;ARL=219;DER=76;DEA=110;QR=37;QA=37;PBP=245;PBM=272;TYPE=SNP;DBXREF=dbSNP:rs13078881,g1000:0.0186,esp5400:0.0298,ExAC:0.0320,PhyloP:0.7430,SIFT:0.9970,PolyPhen2:0.9870,PolyPhen2_HumDiv:1.0000,LRT:0.9940,MutationTaster:0.9920,GERP:3.8000,clinvar:rs13078881,CLNSIG:Pathogenic,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:8029,GnomAD_AN_exome:246206,GnomAD_AC_genome:887,GnomAD_AN_genome:30972,GnomAD:0.0322;OVLP=rs13078881;SGVEP=BTD|+|NM_000060|4|c.1330G>C|p.(Asp444His)|missense GT:DP:AD:DP4 0/1:60:37,23:19,18,11,12 3 16639754 84363452 G T 120 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=252;DER=37;DEA=42;QR=37;QA=37;PBP=75;PBM=49;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3773827,g1000:0.4938,GnomAD_AC_genome:17022,GnomAD_AN_genome:30890,GnomAD:0.5511;SGVEP=DAZL|-|NM_001190811|3|c.211-69C>A|.|intronic GT:DP:AD:DP4 0/1:11:6,5:3,3,3,2 3 16640075 84363835 T C 833 PASS VARTYPE=1;BGN=0.00117154;ARL=233;DER=81;DEA=64;QR=38;QA=37;PBP=397;PBM=444;TYPE=SNP;DBXREF=dbSNP:rs11710967,g1000:0.0681,esp5400:0.0980,ExAC:0.1070,PhyloP:-0.4130,SIFT:0.9040,PolyPhen2:0.0240,PolyPhen2_HumDiv:0.0280,LRT:0.9660,MutationTaster:0.0000,GERP:-2.9800,GnomAD_AC_exome:25254,GnomAD_AN_exome:236064,GnomAD_AC_genome:3086,GnomAD_AN_genome:30956,GnomAD:0.1061;SGVEP=DAZL|-|NM_001190811|2|c.94A>G|p.(Thr32Ala)|missense GT:DP:AD:DP4 0/1:58:24,34:11,13,16,18 3 16640130 84363941 T C 449 off_target VARTYPE=1;BGN=0.00140598;ARL=246;DER=49;DEA=30;QR=36;QA=36;PBP=220;PBM=235;TYPE=SNP;DBXREF=dbSNP:rs201787479,g1000:0.0012,esp5400:0.0023,ExAC:0.0018,GnomAD_AC_exome:479,GnomAD_AN_exome:234490,GnomAD_AC_genome:49,GnomAD_AN_genome:30972,GnomAD:0.0020;SGVEP=DAZL|-|NM_001190811|2|c.64-25A>G|.|intronic GT:DP:AD:DP4 0/1:34:15,19:6,9,9,10 3 16646745 84368646 C G 1199 off_target VARTYPE=1;BGN=0.00117154;ARL=217;DEA=71;QA=37;PBP=585;PBM=615;TYPE=SNP;DBXREF=dbSNP:rs9847342,g1000:0.9677,esp5400:0.9361,ExAC:0.9360,GnomAD_AC_exome:229919,GnomAD_AN_exome:246042,GnomAD_AC_genome:28923,GnomAD_AN_genome:30932,GnomAD:0.9345;SGVEP=DAZL|-|NM_001351|1|c.-33G>C|.|5'UTR GT:DP:AD:DP4 1/1:41:0,41:0,0,20,21 3 24270500 88922440 GAAAAAA GAAAAAAA 105 off_target VARTYPE=1;BGN=0.0346391;ARL=210;DER=52;DEA=68;QR=32;QA=37;HL=6;PBP=28;PBM=86;SP=5;TYPE=INDEL;DBXREF=dbSNP:rs3836253,ExAC:0.3220,clinvar:rs3836253,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:75873,GnomAD_AN_exome:243458,GnomAD_AC_genome:11268,GnomAD_AN_genome:30636,GnomAD:0.3179;SGVEP=THRB|-|NM_000461|3|c.-42-9dupT|.|intronic GT:DP:AD:DP4 0/1:33:17,13:8,9,4,9 3 25775356 71806 A C 2470 off_target VARTYPE=1;BGN=0.00140598;ARL=215;DEA=56;QA=36;PBP=1337;PBM=1138;TYPE=SNP;DBXREF=dbSNP:rs6550987,g1000:0.8003,esp5400:0.8214,ExAC:0.8400,clinvar:rs6550987,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:204739,GnomAD_AN_exome:242930,GnomAD_AC_genome:25344,GnomAD_AN_genome:30940,GnomAD:0.8401;SGVEP=NGLY1|-|NM_001145293|8|c.1206+7T>G|.|intronic GT:DP:AD:DP4 1/1:87:0,87:0,0,47,40 3 25805879 89847973 T C 370 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=244;DEA=72;QA=36;PBP=171;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs11129208,g1000:0.6873,GnomAD_AC_genome:22073,GnomAD_AN_genome:30932,GnomAD:0.7136;SGVEP=NGLY1|-|NM_001145293|3|c.247-77A>G|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 3 27424718 90752104 A G 511 low_coverage VARTYPE=1;BGN=0.000976189;ARL=237;DEA=111;QA=38;PBP=241;PBM=271;TYPE=SNP;DBXREF=dbSNP:rs1472256,g1000:0.9277,esp5400:0.9189,ExAC:0.9370,GnomAD_AC_exome:230873,GnomAD_AN_exome:245468,GnomAD_AC_genome:28597,GnomAD_AN_genome:30948,GnomAD:0.9387;SGVEP=SLC4A7|-|NM_001258379|23|c.3132T>C|p.(Asp1044:)|synonymous GT:DP:AD:DP4 1/1:17:0,17:0,0,8,9 3 27427521 90752271 A G 234 off_target VARTYPE=1;BGN=0.000976189;ARL=211;DER=64;DEA=61;QR=37;QA=38;PBP=93;PBM=146;SP=2;TYPE=SNP;DBXREF=dbSNP:rs9823689,g1000:0.1324,esp5400:0.1741,ExAC:0.1170,GnomAD_AC_exome:26374,GnomAD_AN_exome:226686,GnomAD_AC_genome:4493,GnomAD_AN_genome:30898,GnomAD:0.1198;SGVEP=SLC4A7|-|NM_001258379|22|c.2977-7T>C|.|intronic GT:DP:AD:DP4 0/1:26:16,10:8,8,4,6 3 27439549 90753009 C T 285 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=291;DEA=45;QA=36;PBP=143;PBM=143;TYPE=SNP;DBXREF=dbSNP:rs2055122,g1000:0.9221,GnomAD_AC_genome:28487,GnomAD_AN_genome:30938,GnomAD:0.9208;SGVEP=SLC4A7|-|NM_001258379|16|c.2205+134G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 3 27446292 90753425 T A 440 off_target VARTYPE=1;BGN=0.00117154;ARL=241;DER=57;DEA=39;QR=38;QA=37;PBP=223;PBM=223;TYPE=SNP;DBXREF=dbSNP:rs746815936,ExAC:0.0000,GnomAD_AC_exome:1,GnomAD_AN_exome:209144,GnomAD:0.0000;SGVEP=SLC4A7|-|NM_001258379|13|c.1691+29A>T|.|intronic GT:DP:AD:DP4 0/1:32:14,18:7,7,9,9 3 27451106 90753711 G C 173 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=232;DER=11;DEA=28;QR=34;QA=38;PBP=75;PBM=102;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9828914,g1000:0.4261,GnomAD_AC_genome:11988,GnomAD_AN_genome:30898,GnomAD:0.3880;SGVEP=SLC4A7|-|NM_001258379|12|c.1383-85C>G|.|intronic GT:DP:AD:DP4 0/1:15:8,7:4,4,3,4 3 27463229 90754375 C T 981 PASS VARTYPE=1;BGN=0.00117154;ARL=203;DER=47;DEA=73;QR=34;QA=37;PBP=483;PBM=506;TYPE=SNP;DBXREF=dbSNP:rs79251239,g1000:0.0731,esp5400:0.1587,ExAC:0.1450,GnomAD_AC_exome:36033,GnomAD_AN_exome:245660,GnomAD_AC_genome:4498,GnomAD_AN_genome:30908,GnomAD:0.1465;SGVEP=SLC4A7|-|NM_001258379|8|c.924G>A|p.(Glu308:)|synonymous GT:DP:AD:DP4 0/1:60:21,39:10,11,19,20 3 27475351 90803408 G A 157 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=239;DER=84;DEA=37;QR=31;QA=37;PBP=78;PBM=82;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3278,g1000:0.1026,GnomAD_AC_genome:3703,GnomAD_AN_genome:30940,GnomAD:0.1197;SGVEP=SLC4A7|-|NM_001258379|6|c.766+56C>T|.|intronic GT:DP:AD:DP4 0/1:9:3,6:2,1,3,3 3 27478834 90803896 C T 247 low_coverage;off_target VARTYPE=1;BGN=0.002025;ARL=218;DER=72;DEA=19;QR=33;QA=34;PBP=138;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs2029617,g1000:0.1390,esp5400:0.1816,ExAC:0.1260,GnomAD_AC_exome:17943,GnomAD_AN_exome:142526,GnomAD_AC_genome:4671,GnomAD_AN_genome:30146,GnomAD:0.1310;SGVEP=SLC4A7|-|NM_001258379|4|c.416+45G>A|.|intronic GT:DP:AD:DP4 0/1:19:8,11:4,4,6,5 3 27478899 90803928 A G 481 PASS VARTYPE=1;BGN=0.00140598;ARL=208;DER=78;DEA=59;QR=37;QA=36;PBP=232;PBM=255;TYPE=SNP;DBXREF=dbSNP:rs2029618,g1000:0.1038,esp5400:0.1458,ExAC:0.1100,GnomAD_AC_exome:24154,GnomAD_AN_exome:222710,GnomAD_AC_genome:3733,GnomAD_AN_genome:30832,GnomAD:0.1100;SGVEP=SLC4A7|-|NM_001258379|4|c.396T>C|p.(Tyr132:)|synonymous GT:DP:AD:DP4 0/1:42:21,21:10,11,10,11 3 27525708 90809399 C T 227 PASS VARTYPE=1;BGN=0.00140598;ARL=229;DER=46;DEA=62;QR=33;QA=36;PBP=89;PBM=144;SP=2;TYPE=SNP;DBXREF=dbSNP:rs6768359,g1000:0.1324,GnomAD_AC_genome:4443,GnomAD_AN_genome:30530,GnomAD:0.1455;SGVEP=SLC4A7|-|NM_001258379|1|c.-91G>A|.|5'UTR GT:DP:AD:DP4 0/1:22:12,10:7,5,4,6 3 27759338 90934230 C A 401 off_target VARTYPE=1;BGN=0.00117154;ARL=205;DER=2;DEA=33;QR=21;QA=37;PBP=196;PBM=264;TYPE=SNP;DBXREF=dbSNP:rs9866625,g1000:0.7141,ExAC:0.3330,GnomAD_AC_exome:37883,GnomAD_AN_exome:78938,GnomAD_AC_genome:16250,GnomAD_AN_genome:28408,GnomAD:0.5043;SGVEP=EOMES|-|NM_001278182|6|c.1380-39G>T|.|intronic GT:DP:AD:DP4 0/1:26:1,16:1,0,7,9 3 27763427 71824 G C 231 low_variant_fraction VARTYPE=1;BGN=0.00168734;ARL=241;DER=6;DEA=34;QR=36;QA=35;PBP=162;PBM=78;SP=6;TYPE=SNP;DBXREF=dbSNP:rs1874198,esp5400:0.0519,ExAC:0.0003,PhyloP:-0.8390,SIFT:0.8360,PolyPhen2:0.5670,PolyPhen2_HumDiv:0.7560,LRT:0.4050,MutationTaster:0.0000,GERP:-0.4510,clinvar:rs1874198,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:530,GnomAD_AN_exome:23894,GnomAD_AC_genome:8,GnomAD_AN_genome:29972,GnomAD:0.0100;SGVEP=EOMES|-|NM_001278182|1|c.359C>G|p.(Ala120Gly)|missense GT:DP:AD:DP4 0/1:87:9,14:5,4,9,5 3 27763427 71826 G GCGGCGC 1584 PASS VARTYPE=1;BGN=0.000976189;ARL=241;DER=6;DEA=102;QR=36;QA=219;PBP=717;PBM=881;TYPE=INDEL;DBXREF=dbSNP:rs368178421,g1000:0.5361,ExAC:0.1920,clinvar:rs368178421,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD_AC_exome:7005,GnomAD_AN_exome:23894,GnomAD_AC_genome:11894,GnomAD_AN_genome:29972,GnomAD:0.3509;SGVEP=EOMES|-|NM_001278182|1|c.358_359insGCGCCG|p.(Ala119_Ala120insGlyAla)|inframe_6 GT:DP:AD:DP4 0/1:92:10,61:6,4,28,33 3 31621228 93376372 T TAAA 224 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=228;DEA=58;QA=96;PBP=113;PBM=113;TYPE=INDEL;DBXREF=dbSNP:rs58289734,g1000:0.9257,GnomAD_AC_genome:28446,GnomAD_AN_genome:30732,GnomAD:0.9256;SGVEP=STT3B|+|NM_178862|3|c.424-73_424-72insAAA|.|intronic GT:DP:AD:DP4 1/1:10:0,8:0,0,4,4 3 31663515 93425028 A AGTGTG 400 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=225;DEA=34;QA=187;PBP=202;PBM=202;TYPE=INDEL;DBXREF=dbSNP:rs71097434,g1000:0.9982,GnomAD_AC_genome:30865,GnomAD_AN_genome:30966,GnomAD:0.9967;SGVEP=STT3B|+|NM_178862|10|c.1328-72_1328-71insGTGGT|.|intronic GT:DP:AD:DP4 1/1:16:0,14:0,0,7,7 3 31677395 93433151 T G 410 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=244;DEA=61;QA=37;PBP=205;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs11129457,g1000:0.9253,GnomAD_AC_genome:28627,GnomAD_AN_genome:30930,GnomAD:0.9255;SGVEP=STT3B|+|NM_178862|16|c.2401-81T>G|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 3 33055721 72068 A G 2739 PASS VARTYPE=1;BGN=0.00117154;ARL=223;DEA=96;QA=37;PBP=1344;PBM=1403;TYPE=SNP;DBXREF=dbSNP:rs4302331,g1000:0.9271,esp5400:0.9338,ExAC:0.9800,PhyloP:-0.2310,SIFT:0.4400,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.7390,MutationTaster:0.0000,GERP:1.5000,clinvar:rs4302331,CLNSIG:Benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:240175,GnomAD_AN_exome:244310,GnomAD_AC_genome:28982,GnomAD_AN_genome:30928,GnomAD:0.9779;SGVEP=GLB1|-|NM_000404|15|c.1561T>C|p.(Cys521Arg)|missense GT:DP:AD:DP4 1/1:94:0,94:0,0,46,48 3 33093190 94273420 T C 471 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=221;DEA=48;QA=35;PBP=249;PBM=222;TYPE=SNP;DBXREF=dbSNP:rs12632196,g1000:0.7802,esp5400:0.7851,GnomAD_AC_genome:23248,GnomAD_AN_genome:30670,GnomAD:0.7580;SGVEP=GLB1|-|NM_000404|9|c.955+60A>G|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 3 33093628 94273622 A C 305 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=284;DEA=37;QA=35;PBP=111;PBM=194;TYPE=SNP;DBXREF=dbSNP:rs6550200,g1000:0.6082,GnomAD_AC_genome:20818,GnomAD_AN_genome:30876,GnomAD:0.6742;SGVEP=GLB1|-|NM_000404|8|c.793-132T>G|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,4,7 3 33099880 94274770 T C 333 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=275;DEA=40;QA=35;PBP=166;PBM=166;TYPE=SNP;DBXREF=dbSNP:rs7637435,g1000:0.9617,GnomAD_AC_genome:30147,GnomAD_AN_genome:30940,GnomAD:0.9744;SGVEP=GLB1|-|NM_000404|6|c.553-119A>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 3 33110190 94276753 G T 399 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=270;DEA=32;QA=36;PBP=228;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs11129543,g1000:0.4443,GnomAD_AC_genome:15209,GnomAD_AN_genome:30794,GnomAD:0.4939;SGVEP=GLB1|-|NM_000404|3|c.396+122C>A|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,8,6 3 33138544 72170 A G 1723 PASS VARTYPE=1;BGN=0.00117154;ARL=212;DEA=104;QA=37;PBP=936;PBM=790;TYPE=SNP;DBXREF=dbSNP:rs7614776,g1000:0.9277,esp5400:0.8865,ExAC:0.9040,clinvar:rs7614776,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:220223,GnomAD_AN_exome:242406,GnomAD_AC_genome:27176,GnomAD_AN_genome:30868,GnomAD:0.9053;SGVEP=GLB1|-|NM_000404|1|c.34T>C|p.(Leu12:)|synonymous GT:DP:AD:DP4 1/1:59:0,59:0,0,32,27 3 33138549 72172 G A 1723 PASS VARTYPE=1;BGN=0.00117154;ARL=212;DEA=99;QA=37;PBP=907;PBM=819;TYPE=SNP;DBXREF=dbSNP:rs7637099,g1000:0.4319,esp5400:0.4775,ExAC:0.5600,PhyloP:-0.1580,SIFT:0.9980,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0200,MutationTaster:0.0000,GERP:-0.1280,clinvar:rs7637099,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:137538,GnomAD_AN_exome:242298,GnomAD_AC_genome:14849,GnomAD_AN_genome:30860,GnomAD:0.5579;SGVEP=GLB1|-|NM_000404|1|c.29C>T|p.(Pro10Leu)|missense GT:DP:AD:DP4 1/1:59:0,59:0,0,31,28 3 33174156 94323585 T G 683 PASS VARTYPE=1;BGN=0.000976189;ARL=214;DER=83;DEA=95;QR=37;QA=38;PBP=361;PBM=331;TYPE=SNP;DBXREF=dbSNP:rs1135127,g1000:0.2935,esp5400:0.3892,ExAC:0.3750,clinvar:rs1135127,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:91221,GnomAD_AN_exome:246258,GnomAD_AC_genome:11137,GnomAD_AN_genome:30918,GnomAD:0.3693;SGVEP=CRTAP|+|NM_006371|5|c.1032T>G|p.(Thr344:)|synonymous GT:DP:AD:DP4 0/1:94:63,31:30,33,16,15 3 33174168 94323591 G A 624 PASS VARTYPE=1;BGN=0.00117154;ARL=217;DER=77;DEA=89;QR=37;QA=37;PBP=306;PBM=326;TYPE=SNP;DBXREF=dbSNP:rs1135128,g1000:0.2935,esp5400:0.3891,ExAC:0.3750,clinvar:rs1135128,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:91205,GnomAD_AN_exome:246246,GnomAD_AC_genome:11140,GnomAD_AN_genome:30888,GnomAD:0.3693;SGVEP=CRTAP|+|NM_006371|5|c.1044G>A|p.(Ser348:)|synonymous GT:DP:AD:DP4 0/1:84:55,29:26,29,14,15 3 33175793 94323710 C A 1053 off_target VARTYPE=1;BGN=0.00117154;ARL=228;DEA=74;QA=37;PBP=527;PBM=527;TYPE=SNP;DBXREF=dbSNP:rs4234239,g1000:0.8738,esp5400:0.8569,ExAC:0.8490,GnomAD_AC_exome:207809,GnomAD_AN_exome:245968,GnomAD_AC_genome:26703,GnomAD_AN_genome:30968,GnomAD:0.8468;SGVEP=CRTAP|+|NM_006371|6|c.1152+36C>A|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,18,18 3 33175854 94323716 A G 375 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=258;DER=35;DEA=72;QR=34;QA=37;PBP=190;PBM=190;TYPE=SNP;DBXREF=dbSNP:rs58617854,g1000:0.2977,GnomAD_AC_genome:11248,GnomAD_AN_genome:30906,GnomAD:0.3639;SGVEP=CRTAP|+|NM_006371|6|c.1152+97A>G|.|intronic GT:DP:AD:DP4 1/1:18:4,14:2,2,7,7 3 37034946 72226 G A 609 off_target VARTYPE=1;BGN=0.00117154;ARL=249;DER=40;DEA=25;QR=37;QA=37;PBP=321;PBM=295;TYPE=SNP;DBXREF=dbSNP:rs1800734,g1000:0.3205,clinvar:rs1800734,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_genome:7207,GnomAD_AN_genome:30952,GnomAD:0.2328;SGVEP=MLH1|+|NM_000249|1|c.-93G>A|.|5'UTR GT:DP:AD:DP4 0/1:65:38,27:19,19,14,13 3 37053568 72918 A G 264 PASS VARTYPE=1;BGN=0.00117154;ARL=199;DER=72;DEA=77;QR=37;QA=37;PBP=135;PBM=135;TYPE=SNP;DBXREF=dbSNP:rs1799977,g1000:0.1296,esp5400:0.2398,ExAC:0.2320,PhyloP:2.2090,SIFT:0.6620,PolyPhen2:0.0740,PolyPhen2_HumDiv:0.0180,LRT:1.0000,MutationTaster:1.0000,GERP:4.6100,clinvar:rs1799977,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:57480,GnomAD_AN_exome:245802,GnomAD_AC_genome:7054,GnomAD_AN_genome:30928,GnomAD:0.2332;SGVEP=MLH1|+|NM_000249|8|c.655A>G|p.(Ile219Val)|missense GT:DP:AD:DP4 0/1:34:22,12:11,11,6,6 3 37062040 73297 T C 323 off_target VARTYPE=1;BGN=0.00168734;ARL=255;DER=35;DEA=86;QR=36;QA=35;PBP=153;PBM=175;TYPE=SNP;DBXREF=dbSNP:rs2286939,g1000:0.3093,clinvar:rs2286939,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_genome:12205,GnomAD_AN_genome:30876,GnomAD:0.3953;SGVEP=MLH1|+|NM_000249|11|c.1038+86T>C|.|intronic GT:DP:AD:DP4 0/1:34:19,15:9,10,7,8 3 37083740 73873 A G 412 off_target VARTYPE=1;BGN=0.00117154;ARL=225;DER=88;DEA=90;QR=38;QA=37;PBP=209;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs9876116,g1000:0.3123,esp5400:0.4359,ExAC:0.3710,clinvar:rs9876116,CLNSIG:Benign,CLNREVSTAT:reviewed_by_expert_panel,GnomAD_AC_exome:91015,GnomAD_AN_exome:245240,GnomAD_AC_genome:12320,GnomAD_AN_genome:30916,GnomAD:0.3742;SGVEP=MLH1|+|NM_000249|15|c.1668-19A>G|.|intronic GT:DP:AD:DP4 0/1:42:24,18:12,12,9,9 3 37096013 96468748 G A 1013 off_target VARTYPE=1;BGN=0.00117154;ARL=216;DER=99;DEA=44;QR=36;QA=37;PBP=511;PBM=511;TYPE=SNP;DBXREF=dbSNP:rs13059224,g1000:0.0090,esp5400:0.0184,ExAC:0.0160,GnomAD_AC_exome:3896,GnomAD_AN_exome:244658,GnomAD_AC_genome:394,GnomAD_AN_genome:30978,GnomAD:0.0156;SGVEP=LRRFIP2|-|NM_001134369|14|c.1060-7C>T|.|intronic GT:DP:AD:DP4 0/1:60:20,40:10,10,20,20 3 37096024 96468756 T C 774 off_target VARTYPE=1;BGN=0.00140598;ARL=220;DER=88;DEA=37;QR=36;QA=36;PBP=393;PBM=389;TYPE=SNP;DBXREF=dbSNP:rs749072,g1000:0.3556,esp5400:0.2503,ExAC:0.3200,GnomAD_AC_exome:77874,GnomAD_AN_exome:242776,GnomAD_AC_genome:8369,GnomAD_AN_genome:30928,GnomAD:0.3151;SGVEP=LRRFIP2|-|NM_001134369|14|c.1060-18A>G|.|intronic GT:DP:AD:DP4 0/1:51:19,32:9,10,16,16 3 37096109 96468842 T TAAC 206 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=261;DER=7;DEA=50;QR=32;QA=113;PBP=105;PBM=105;TYPE=INDEL;DBXREF=dbSNP:rs113420512,g1000:0.3427,GnomAD_AC_genome:13440,GnomAD_AN_genome:30732,GnomAD:0.4373;SGVEP=LRRFIP2|-|NM_001134369|14|c.1060-104_1060-103insGTT|.|intronic GT:DP:AD:DP4 0/1:14:6,8:3,3,4,4 3 37107470 96473071 G A 421 off_target VARTYPE=1;BGN=0.000976189;ARL=252;DER=70;DEA=47;QR=36;QA=38;PBP=216;PBM=212;TYPE=SNP;DBXREF=dbSNP:rs2302503,g1000:0.3015,esp5400:0.4248,ExAC:0.3720,GnomAD_AC_exome:91411,GnomAD_AN_exome:244756,GnomAD_AC_genome:12092,GnomAD_AN_genome:30900,GnomAD:0.3755;SGVEP=LRRFIP2|-|NM_001134369|10|c.676-37C>T|.|intronic GT:DP:AD:DP4 0/1:44:26,18:12,14,9,9 3 37133124 96478490 A G 182 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=241;DER=32;DEA=57;QR=38;QA=38;PBP=80;PBM=105;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2302506,g1000:0.2448,GnomAD_AC_genome:10544,GnomAD_AN_genome:30914,GnomAD:0.3411;SGVEP=LRRFIP2|-|NM_001134369|7|c.340-95T>C|.|intronic GT:DP:AD:DP4 0/1:12:5,7:2,3,3,4 3 37144535 96480494 C A 135 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=215;DER=49;DEA=15;QR=36;QA=37;PBP=69;PBM=70;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2302507,g1000:0.3452,esp5400:0.4680,ExAC:0.2780,GnomAD_AC_exome:54910,GnomAD_AN_exome:134646,GnomAD_AC_genome:13642,GnomAD_AN_genome:30740,GnomAD:0.4145;SGVEP=LRRFIP2|-|NM_001134369|5|c.178-6384G>T|.|intronic GT:DP:AD:DP4 0/1:17:11,6:6,5,3,3 3 37150988 96488801 C G 585 off_target VARTYPE=1;BGN=0.00117154;ARL=213;DER=58;DEA=63;QR=37;QA=37;PBP=282;PBM=311;TYPE=SNP;DBXREF=dbSNP:rs6806252,g1000:0.4217,esp5400:0.5664,ExAC:0.4490,GnomAD_AC_exome:109059,GnomAD_AN_exome:245586,GnomAD_AC_genome:16007,GnomAD_AN_genome:30884,GnomAD:0.4524;SGVEP=LRRFIP2|-|NM_001134369|5|c.178-12837G>C|.|intronic GT:DP:AD:DP4 0/1:52:27,25:14,13,12,13 3 37163039 96493369 G A 1290 off_target VARTYPE=1;BGN=0.000976189;ARL=216;DEA=94;QA=38;PBP=631;PBM=661;TYPE=SNP;DBXREF=dbSNP:rs336595,g1000:0.9980,esp5400:0.9989,ExAC:1.0000,GnomAD_AC_exome:245978,GnomAD_AN_exome:246034,GnomAD_AC_genome:30952,GnomAD_AN_genome:30980,GnomAD:0.9997;SGVEP=LRRFIP2|-|NM_001134369|4|c.177+7515C>T|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,21,22 3 37512646 96688182 T C 10000 off_target VARTYPE=1;BGN=0.00117154;ARL=222;DEA=65;QA=37;PBP=1752;PBM=1810;TYPE=SNP;DBXREF=dbSNP:rs11713408,g1000:0.5527,esp5400:0.5962,ExAC:0.6030,GnomAD_AC_exome:147837,GnomAD_AN_exome:245894,GnomAD_AC_genome:17791,GnomAD_AN_genome:30552,GnomAD:0.5991;SGVEP=ITGA9|+|NM_002207|2|c.313+21T>C|.|intronic GT:DP:AD:DP4 1/1:122:0,122:0,0,60,62 3 37512647 96688198 G C 10000 off_target VARTYPE=1;BGN=0.00117154;ARL=225;DEA=67;QA=37;PBP=1723;PBM=1723;TYPE=SNP;DBXREF=dbSNP:rs11709385,g1000:0.5521,esp5400:0.5994,ExAC:0.6030,GnomAD_AC_exome:147775,GnomAD_AN_exome:245872,GnomAD_AC_genome:17780,GnomAD_AN_genome:30546,GnomAD:0.5989;SGVEP=ITGA9|+|NM_002207|2|c.313+22G>C|.|intronic GT:DP:AD:DP4 1/1:118:0,118:0,0,59,59 3 37560708 96703674 A G 293 off_target VARTYPE=1;BGN=0.00117154;ARL=214;DER=23;DEA=52;QR=36;QA=37;PBP=149;PBM=149;TYPE=SNP;DBXREF=dbSNP:rs3733138,g1000:0.0585,esp5400:0.0516,ExAC:0.0540,GnomAD_AC_exome:13329,GnomAD_AN_exome:229660,GnomAD_AC_genome:1652,GnomAD_AN_genome:30916,GnomAD:0.0575;SGVEP=ITGA9|+|NM_002207|11|c.1142-43A>G|.|intronic GT:DP:AD:DP4 0/1:22:10,12:5,5,6,6 3 37574951 96707913 G A 1274 PASS VARTYPE=1;BGN=0.00117154;ARL=212;DER=59;DEA=49;QR=36;QA=37;PBP=616;PBM=670;TYPE=SNP;DBXREF=dbSNP:rs267561,g1000:0.5591,esp5400:0.5414,ExAC:0.5710,PhyloP:2.7750,SIFT:0.9740,PolyPhen2:0.4430,PolyPhen2_HumDiv:0.5290,LRT:1.0000,MutationTaster:1.0000,GERP:5.8600,clinvar:rs267561,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:142729,GnomAD_AN_exome:245522,GnomAD_AC_genome:17050,GnomAD_AN_genome:30902,GnomAD:0.5780;SGVEP=ITGA9|+|NM_002207|14|c.1520G>A|p.(Gly507Glu)|missense GT:DP:AD:DP4 0/1:125:69,56:35,34,27,29 3 37575039 96708006 G A 133 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=266;DER=37;DEA=29;QR=31;QA=37;PBP=22;PBM=118;SP=2;TYPE=SNP;DBXREF=dbSNP:rs267560,g1000:0.5591,GnomAD_AC_genome:17047,GnomAD_AN_genome:30896,GnomAD:0.5518;SGVEP=ITGA9|+|NM_002207|14|c.1528+80G>A|.|intronic GT:DP:AD:DP4 0/1:18:12,6:5,7,1,5 3 37670876 96767661 G C 829 off_target VARTYPE=1;BGN=0.000976189;ARL=241;DER=52;DEA=66;QR=37;QA=38;PBP=451;PBM=386;TYPE=SNP;DBXREF=dbSNP:rs2282485,g1000:0.1821,esp5400:0.1739,ExAC:0.1940,PhyloP:-0.4460,SIFT:1.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-4.1800,GnomAD_AC_exome:46208,GnomAD_AN_exome:228492,GnomAD_AC_genome:6067,GnomAD_AN_genome:30908,GnomAD:0.2015;SGVEP=ITGA9|+|NM_002207|16|c.1839+49G>C|.|intronic GT:DP:AD:DP4 0/1:50:18,32:8,10,17,15 3 37695192 96785212 G A 365 off_target VARTYPE=1;BGN=0.00117154;ARL=237;DER=85;DEA=80;QR=37;QA=37;PBP=211;PBM=160;TYPE=SNP;DBXREF=dbSNP:rs3821909,g1000:0.2642,esp5400:0.2636,ExAC:0.2260,GnomAD_AC_exome:54739,GnomAD_AN_exome:246212,GnomAD_AC_genome:8456,GnomAD_AN_genome:30888,GnomAD:0.2281;SGVEP=ITGA9|+|NM_002207|17|c.1840-13G>A|.|intronic GT:DP:AD:DP4 0/1:38:22,16:11,11,9,7 3 37695260 96785229 A G 673 PASS VARTYPE=1;BGN=0.00117154;ARL=217;DER=85;DEA=92;QR=36;QA=37;PBP=340;PBM=340;TYPE=SNP;DBXREF=dbSNP:rs57547208,g1000:0.0282,esp5400:0.0503,ExAC:0.0360,PhyloP:-0.9290,SIFT:0.5910,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0000,LRT:0.9750,MutationTaster:1.0000,GERP:-3.6700,GnomAD_AC_exome:8439,GnomAD_AN_exome:246210,GnomAD_AC_genome:1533,GnomAD_AN_genome:30974,GnomAD:0.0360;SGVEP=ITGA9|+|NM_002207|17|c.1895A>G|p.(Gln632Arg)|missense GT:DP:AD:DP4 0/1:52:24,28:12,12,14,14 3 37774304 96789164 C T 1082 off_target VARTYPE=1;BGN=0.00117154;ARL=236;DEA=53;QA=37;PBP=527;PBM=556;TYPE=SNP;DBXREF=dbSNP:rs58228096,g1000:0.2548,esp5400:0.2831,ExAC:0.2270,GnomAD_AC_exome:51658,GnomAD_AN_exome:221594,GnomAD_AC_genome:8228,GnomAD_AN_genome:30818,GnomAD:0.2373;SGVEP=ITGA9|+|NM_002207|19|c.2154+15C>T|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,18,19 3 37774327 96789169 C T 361 off_target VARTYPE=1;BGN=0.000976189;ARL=228;DER=27;DEA=45;QR=36;QA=38;PBP=170;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs114876272,g1000:0.0106,esp5400:0.0202,ExAC:0.0180,GnomAD_AC_exome:4235,GnomAD_AN_exome:193542,GnomAD_AC_genome:526,GnomAD_AN_genome:30932,GnomAD:0.0212;SGVEP=ITGA9|+|NM_002207|19|c.2154+38C>T|.|intronic GT:DP:AD:DP4 0/1:33:18,15:9,9,7,8 3 37778481 96789398 G C 609 off_target VARTYPE=1;BGN=0.00168734;ARL=215;DEA=54;QA=35;PBP=305;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs1118148,g1000:0.3423,esp5400:0.3671,ExAC:0.2630,GnomAD_AC_exome:61702,GnomAD_AN_exome:245872,GnomAD_AC_genome:10421,GnomAD_AN_genome:30916,GnomAD:0.2606;SGVEP=ITGA9|+|NM_002207|20|c.2234+7G>C|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 3 37819040 74404 G A 419 off_target VARTYPE=1;BGN=0.00117154;ARL=211;DER=32;DEA=66;QR=37;QA=37;PBP=214;PBM=211;TYPE=SNP;DBXREF=dbSNP:rs76424398,g1000:0.0182,esp5400:0.0333,ExAC:0.0330,clinvar:rs76424398,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:7644,GnomAD_AN_exome:246098,GnomAD_AC_genome:1144,GnomAD_AN_genome:30970,GnomAD:0.0317;SGVEP=ITGA9|+|NM_002207|24|c.2667+32G>A|.|intronic GT:DP:AD:DP4 0/1:39:21,18:10,11,9,9 3 37821607 96797938 T C 279 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=255;DER=113;DEA=25;QR=33;QA=35;PBP=131;PBM=152;TYPE=SNP;DBXREF=dbSNP:rs11716463,g1000:0.0767,GnomAD_AC_genome:2213,GnomAD_AN_genome:30946,GnomAD:0.0715;SGVEP=ITGA9|+|NM_002207|25|c.2787+95T>C|.|intronic GT:DP:AD:DP4 1/1:14:3,11:1,2,5,6 3 38080952 96977464 T G 1696 PASS VARTYPE=1;BGN=0.00140598;ARL=215;DER=102;DEA=108;QR=36;QA=36;PBP=922;PBM=789;TYPE=SNP;DBXREF=dbSNP:rs7625806,g1000:0.4509,esp5400:0.4016,ExAC:0.3700,PhyloP:-0.4570,SIFT:0.6610,PolyPhen2:0.0170,PolyPhen2_HumDiv:0.0060,LRT:0.5540,MutationTaster:0.0000,GERP:0.3090,GnomAD_AC_exome:91465,GnomAD_AN_exome:245380,GnomAD_AC_genome:12891,GnomAD_AN_genome:30952,GnomAD:0.3776;SGVEP=DLEC1|+|NM_001321153|1|c.236T>G|p.(Leu79Arg)|missense GT:DP:AD:DP4 0/1:168:91,77:44,47,41,36 3 38081031 96977512 A T 1659 PASS VARTYPE=1;BGN=0.00140598;ARL=223;DER=93;DEA=103;QR=37;QA=36;PBP=828;PBM=844;TYPE=SNP;DBXREF=dbSNP:rs7616776,g1000:0.3425,esp5400:0.2952,ExAC:0.3130,GnomAD_AC_exome:78528,GnomAD_AN_exome:244928,GnomAD_AC_genome:10068,GnomAD_AN_genome:30952,GnomAD:0.3211;SGVEP=DLEC1|+|NM_001321153|1|c.315A>T|p.(Ser105:)|synonymous GT:DP:AD:DP4 0/1:142:69,73:33,36,36,37 3 38087024 96978310 C T 1514 off_target VARTYPE=1;BGN=0.00117154;ARL=224;DER=61;DEA=45;QR=37;QA=37;PBP=803;PBM=723;TYPE=SNP;DBXREF=dbSNP:rs36046028,g1000:0.1044,esp5400:0.1513,ExAC:0.1690,GnomAD_AC_exome:41196,GnomAD_AN_exome:241790,GnomAD_AC_genome:4434,GnomAD_AN_genome:30938,GnomAD:0.1673;SGVEP=DLEC1|+|NM_001321153|2|c.412-10C>T|.|intronic GT:DP:AD:DP4 0/1:113:50,63:25,25,33,30 3 38104353 96982273 G A 313 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=274;DER=19;DEA=90;QR=38;QA=35;PBP=158;PBM=158;TYPE=SNP;DBXREF=dbSNP:rs3752614,g1000:0.3452,GnomAD_AC_genome:9939,GnomAD_AN_genome:30884,GnomAD:0.3218;SGVEP=DLEC1|+|NM_001321153|5|c.1094+61G>A|.|intronic GT:DP:AD:DP4 1/1:14:2,12:1,1,6,6 3 38125705 96987616 G A 1071 PASS VARTYPE=1;BGN=0.00140598;ARL=209;DER=94;DEA=101;QR=37;QA=36;PBP=574;PBM=507;TYPE=SNP;DBXREF=dbSNP:rs7652276,g1000:0.3754,esp5400:0.3315,ExAC:0.3230,GnomAD_AC_exome:80445,GnomAD_AN_exome:245978,GnomAD_AC_genome:10742,GnomAD_AN_genome:30724,GnomAD:0.3295;SGVEP=DLEC1|+|NM_001321153|7|c.1230G>A|p.(Pro410:)|synonymous GT:DP:AD:DP4 0/1:92:45,47:24,21,25,22 3 38125844 96987905 G A 108 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=261;DER=46;DEA=109;QR=32;QA=35;PBP=66;PBM=45;SP=0;TYPE=SNP;DBXREF=dbSNP:rs62240733,GnomAD_AC_genome:8105,GnomAD_AN_genome:23458,GnomAD:0.3455;SGVEP=DLEC1|+|NM_001321153|7|c.1261+108G>A|.|intronic GT:DP:AD:DP4 0/1:13:8,5:5,3,3,2 3 38134438 96993673 A G 570 off_target VARTYPE=1;BGN=0.00140598;ARL=253;DEA=67;QA=36;PBP=285;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs11129778,g1000:0.9521,esp5400:0.9286,GnomAD_AC_genome:29128,GnomAD_AN_genome:30892,GnomAD:0.9429;SGVEP=DLEC1|+|NM_001321153|11|c.1756+67A>G|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 3 38151731 97052363 T C 888 PASS VARTYPE=1;BGN=0.000976189;ARL=202;DER=69;DEA=61;QR=36;QA=38;PBP=447;PBM=450;TYPE=SNP;DBXREF=dbSNP:rs12630114,g1000:0.4577,esp5400:0.4195,ExAC:0.3860,GnomAD_AC_exome:95649,GnomAD_AN_exome:246164,GnomAD_AC_genome:13164,GnomAD_AN_genome:30880,GnomAD:0.3928;SGVEP=DLEC1|+|NM_001321153|23|c.3411T>C|p.(Tyr1137:)|synonymous GT:DP:AD:DP4 0/1:89:51,38:26,25,19,19 3 38159546 97057105 G A 568 off_target VARTYPE=1;BGN=0.00140598;ARL=242;DER=92;DEA=41;QR=36;QA=36;PBP=239;PBM=336;TYPE=SNP;DBXREF=dbSNP:rs71323653,g1000:0.0196,esp5400:0.0348,ExAC:0.0240,GnomAD_AC_exome:5699,GnomAD_AN_exome:162296,GnomAD_AC_genome:853,GnomAD_AN_genome:30856,GnomAD:0.0339;SGVEP=DLEC1|+|NM_001321153|33|c.4713+31G>A|.|intronic GT:DP:AD:DP4 0/1:42:18,24:8,10,10,14 3 38162038 97057717 GGA G 122 low_variant_fraction VARTYPE=1;BGN=0.000976189;ARL=219;DER=101;DEA=51;QR=36;QA=76;PBP=64;PBM=63;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs140494598,ExAC:0.0003,GnomAD_AC_exome:0,GnomAD_AN_exome:245824,GnomAD:0.0000;SGVEP=DLEC1|+|NM_001321153|34|c.4824_4825del|p.(Glu1608Aspfs*29)|frameshift GT:DP:AD:DP4 0/1:121:111,8:55,56,4,4 3 38519424 97208081 A G 815 PASS VARTYPE=1;BGN=0.00117154;ARL=208;DER=86;DEA=97;QR=36;QA=37;PBP=435;PBM=389;TYPE=SNP;DBXREF=dbSNP:rs2070489,g1000:0.4804,esp5400:0.5169,ExAC:0.5680,clinvar:rs2070489,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:139050,GnomAD_AN_exome:245950,GnomAD_AC_genome:16238,GnomAD_AN_genome:30774,GnomAD:0.5612;SGVEP=ACVR2B|+|NM_001106|3|c.333A>G|p.(Glu111:)|synonymous GT:DP:AD:DP4 0/1:110:72,38:37,35,20,18 3 38521156 97209428 T C 730 off_target VARTYPE=1;BGN=0.00117154;ARL=242;DER=77;DEA=74;QR=36;QA=37;PBP=404;PBM=334;TYPE=SNP;DBXREF=dbSNP:rs13097628,g1000:0.3564,esp5400:0.4349,ExAC:0.4860,clinvar:rs13097628,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:117708,GnomAD_AN_exome:245658,GnomAD_AC_genome:13493,GnomAD_AN_genome:30862,GnomAD:0.4745;SGVEP=ACVR2B|+|NM_001106|7|c.811-13T>C|.|intronic GT:DP:AD:DP4 0/1:62:31,31:17,14,17,14 3 38521425 97209706 C T 193 low_coverage;off_target VARTYPE=1;BGN=0.002025;ARL=257;DER=26;DEA=32;QR=37;QA=34;PBP=111;PBM=87;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4407366,g1000:0.6168,GnomAD_AC_genome:18775,GnomAD_AN_genome:30824,GnomAD:0.6091;SGVEP=ACVR2B|+|NM_001106|7|c.959+108C>T|.|intronic GT:DP:AD:DP4 0/1:19:10,9:5,5,5,4 3 38524742 97211615 C T 1193 PASS VARTYPE=1;BGN=0.00117154;ARL=196;DER=91;DEA=74;QR=38;QA=37;PBP=554;PBM=650;TYPE=SNP;DBXREF=dbSNP:rs1046048,g1000:0.3532,esp5400:0.4315,ExAC:0.4850,clinvar:rs1046048,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:117837,GnomAD_AN_exome:246244,GnomAD_AC_genome:13412,GnomAD_AN_genome:30816,GnomAD:0.4737;SGVEP=ACVR2B|+|NM_001106|11|c.1458C>T|p.(Asn486:)|synonymous GT:DP:AD:DP4 0/1:136:82,54:40,42,25,29 3 38592406 74506 A G 771 PASS VARTYPE=1;BGN=0.00117154;ARL=228;DER=89;DEA=99;QR=37;QA=37;PBP=401;PBM=380;TYPE=SNP;DBXREF=dbSNP:rs1805126,g1000:0.4924,esp5400:0.4348,ExAC:0.3880,clinvar:rs1805126,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:95304,GnomAD_AN_exome:246142,GnomAD_AC_genome:13799,GnomAD_AN_genome:30858,GnomAD:0.3939;SGVEP=SCN5A|-|NM_000335|28|c.5454T>C|p.(Asp1818:)|synonymous GT:DP:AD:DP4 0/1:91:56,35:29,27,18,17 3 38598669 97249982 A G 594 off_target VARTYPE=1;BGN=0.00117154;ARL=241;DER=72;DEA=99;QR=38;QA=37;PBP=300;PBM=300;TYPE=SNP;DBXREF=dbSNP:rs41312393,g1000:0.1280,esp5400:0.0720,GnomAD_AC_genome:3075,GnomAD_AN_genome:30918,GnomAD:0.0995;SGVEP=SCN5A|-|NM_000335|24|c.4296+53T>C|.|intronic GT:DP:AD:DP4 0/1:40:16,24:8,8,12,12 3 38601556 97251025 T C 264 off_target VARTYPE=1;BGN=0.000976189;ARL=244;DER=41;DEA=42;QR=35;QA=38;PBP=146;PBM=124;TYPE=SNP;DBXREF=dbSNP:rs6799868,g1000:0.4109,GnomAD_AC_genome:12707,GnomAD_AN_genome:30876,GnomAD:0.4115;SGVEP=SCN5A|-|NM_000335|23|c.4242+82A>G|.|intronic GT:DP:AD:DP4 0/1:25:14,11:8,6,6,5 3 38622467 74881 T C 761 PASS VARTYPE=1;BGN=0.00117154;ARL=222;DEA=108;QA=37;PBP=410;PBM=351;TYPE=SNP;DBXREF=dbSNP:rs7430407,g1000:0.9231,esp5400:0.8843,ExAC:0.9120,clinvar:rs7430407,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:224356,GnomAD_AN_exome:245476,GnomAD_AC_genome:27932,GnomAD_AN_genome:30924,GnomAD:0.9128;SGVEP=SCN5A|-|NM_000335|17|c.3183A>G|p.(Glu1061:)|synonymous GT:DP:AD:DP4 1/1:26:0,26:0,0,14,12 3 38627153 97275565 G GGTGTGTGTGTGTGTGTGTGTGTGTGTGT 961 off_target VARTYPE=1;BGN=0.000976189;ARL=258;DEA=43;QA=931;PBP=631;PBM=331;NVF=0.97;TYPE=INDEL;DBXREF=dbSNP:rs144423561,g1000:0.3598;SGVEP=SCN5A|-|NM_000335|16|c.2787+28_2787+29ins28|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,21,11 3 38627629 97276163 A G 854 off_target VARTYPE=1;BGN=0.00140598;ARL=253;DER=96;DEA=38;QR=11;QA=36;PBP=370;PBM=484;TYPE=SNP;DBXREF=dbSNP:rs7645173,g1000:0.9405,GnomAD_AC_genome:28750,GnomAD_AN_genome:30734,GnomAD:0.9354;SGVEP=SCN5A|-|NM_000335|16|c.2437-97T>C|.|intronic GT:DP:AD:DP4 1/1:30:0,30:0,0,13,17 3 38645420 75092 T C 1901 PASS VARTYPE=1;BGN=0.00140598;ARL=230;DER=106;DEA=101;QR=36;QA=36;PBP=940;PBM=976;TYPE=SNP;DBXREF=dbSNP:rs1805124,g1000:0.2304,esp5400:0.2456,ExAC:0.2210,PhyloP:0.1090,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9950,MutationTaster:0.0020,GERP:2.4400,clinvar:rs1805124,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:54331,GnomAD_AN_exome:246066,GnomAD_AC_genome:7573,GnomAD_AN_genome:30868,GnomAD:0.2235;SGVEP=SCN5A|-|NM_000335|12|c.1673A>G|p.(His558Arg)|missense GT:DP:AD:DP4 0/1:165:81,84:38,43,41,43 3 38646423 97283044 C T 359 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=243;DER=132;DEA=58;QR=38;QA=36;PBP=163;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs7428779,g1000:0.1751,esp5400:0.1857,ExAC:0.1710,clinvar:rs7428779,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:39508,GnomAD_AN_exome:211318,GnomAD_AC_genome:5926,GnomAD_AN_genome:30916,GnomAD:0.1876;SGVEP=SCN5A|-|NM_000335|11|c.1339-24G>A|.|intronic GT:DP:AD:DP4 1/1:14:1,13:1,0,6,7 3 38647642 75168 G T 182 PASS VARTYPE=1;BGN=0.00117154;ARL=224;DER=62;DEA=77;QR=37;QA=37;PBP=82;PBM=105;SP=0;TYPE=SNP;DBXREF=dbSNP:rs41312433,g1000:0.1512,esp5400:0.1674,ExAC:0.1710,clinvar:rs41312433,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:42254,GnomAD_AN_exome:245558,GnomAD_AC_genome:5388,GnomAD_AN_genome:30876,GnomAD:0.1723;SGVEP=SCN5A|-|NM_000335|10|c.1141-3C>A|.|intronic GT:DP:AD:DP4 0/1:38:29,9:14,15,4,5 3 38648062 97283899 C T 780 off_target VARTYPE=1;BGN=0.002025;ARL=245;DEA=32;QA=34;PBP=458;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs6599222,g1000:0.8450,GnomAD_AC_genome:25084,GnomAD_AN_genome:30886,GnomAD:0.8121;SGVEP=SCN5A|-|NM_000335|9|c.1140+98G>A|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,17,12 3 38655643 97287150 C T 162 off_target VARTYPE=1;BGN=0.002025;ARL=270;DER=51;DEA=72;QR=36;QA=34;PBP=85;PBM=83;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9856587,g1000:0.2230,GnomAD_AC_genome:6737,GnomAD_AN_genome:30926,GnomAD:0.2178;SGVEP=SCN5A|-|NM_000335|6|c.612-318G>A|.|intronic GT:DP:AD:DP4 0/1:21:13,8:6,7,4,4 3 38674712 75335 T C 1695 PASS VARTYPE=1;BGN=0.00117154;ARL=216;DER=97;DEA=109;QR=37;QA=37;PBP=879;PBM=830;TYPE=SNP;DBXREF=dbSNP:rs6599230,g1000:0.7817,esp5400:0.8356,ExAC:0.7730,clinvar:rs6599230,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:187997,GnomAD_AN_exome:245578,GnomAD_AC_genome:24506,GnomAD_AN_genome:30838,GnomAD:0.7688;SGVEP=SCN5A|-|NM_000335|2|c.87A>G|p.(Ala29:)|synonymous GT:DP:AD:DP4 0/1:159:85,74:43,42,38,36 3 38739574 97340991 T C 2246 PASS VARTYPE=1;BGN=0.00117154;ARL=242;DEA=93;QA=37;PBP=1140;PBM=1111;TYPE=SNP;DBXREF=dbSNP:rs6599241,g1000:1.0000,ExAC:1.0000,PhyloP:1.5230,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0140,GERP:5.3800,clinvar:rs6599241,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:246113,GnomAD_AN_exome:246114,GnomAD_AC_genome:30958,GnomAD_AN_genome:30958,GnomAD:1.0000;SGVEP=SCN10A|-|NM_001293306|27|c.5134A>G|p.(Met1712Val)|missense GT:DP:AD:DP4 1/1:77:0,77:0,0,39,38 3 38739727 97341383 C T 1996 PASS VARTYPE=1;BGN=0.00117154;ARL=219;DER=93;DEA=97;QR=37;QA=37;PBP=995;PBM=1018;TYPE=SNP;DBXREF=dbSNP:rs151090729,g1000:0.0010,esp5400:0.0012,ExAC:0.0016,PhyloP:2.8000,SIFT:1.0000,PolyPhen2:1.0000,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.3800,clinvar:rs151090729,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:367,GnomAD_AN_exome:246042,GnomAD_AC_genome:14,GnomAD_AN_genome:30934,GnomAD:0.0014;SGVEP=SCN10A|-|NM_001293306|27|c.4981G>A|p.(Gly1661Ser)|missense GT:DP:AD:DP4 0/1:184:97,87:48,49,43,44 3 38739845 97341644 A G 10000 PASS VARTYPE=1;BGN=0.00117154;ARL=222;DEA=104;QA=37;PBP=2217;PBM=2275;TYPE=SNP;DBXREF=dbSNP:rs6599242,g1000:0.9247,esp5400:0.9299,ExAC:0.9200,clinvar:rs6599242,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:226322,GnomAD_AN_exome:246124,GnomAD_AC_genome:28845,GnomAD_AN_genome:30934,GnomAD:0.9210;SGVEP=SCN10A|-|NM_001293306|27|c.4863T>C|p.(Ser1621:)|synonymous GT:DP:AD:DP4 1/1:154:0,154:0,0,76,78 3 38766675 97367414 A G 789 PASS VARTYPE=1;BGN=0.00117154;ARL=218;DER=63;DEA=62;QR=37;QA=37;PBP=373;PBM=425;TYPE=SNP;DBXREF=dbSNP:rs6795970,g1000:0.7580,esp5400:0.7026,ExAC:0.6570,PhyloP:-1.2870,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0000,MutationTaster:0.0000,GERP:-4.5600,clinvar:rs6795970,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:158174,GnomAD_AN_exome:243056,GnomAD_AC_genome:21788,GnomAD_AN_genome:30912,GnomAD:0.6569;SGVEP=SCN10A|-|NM_001293306|17|c.3215T>C|p.(Val1072Ala)|missense GT:DP:AD:DP4 0/1:72:38,34:19,19,16,18 3 38780971 97376786 G A 535 off_target VARTYPE=1;BGN=0.000976189;ARL=210;DER=42;DEA=30;QR=37;QA=38;PBP=270;PBM=272;TYPE=SNP;DBXREF=dbSNP:rs9830687,g1000:0.1873,esp5400:0.2604,ExAC:0.2160,GnomAD_AC_exome:50016,GnomAD_AN_exome:232716,GnomAD_AC_genome:7701,GnomAD_AN_genome:30906,GnomAD:0.2189;SGVEP=SCN10A|-|NM_001293306|14|c.2280+35C>T|.|intronic GT:DP:AD:DP4 0/1:45:23,22:12,11,11,11 3 38784029 97379753 T C 817 off_target VARTYPE=1;BGN=0.00117154;ARL=234;DER=57;DEA=66;QR=36;QA=37;PBP=417;PBM=409;TYPE=SNP;DBXREF=dbSNP:rs6599250,g1000:0.7578,esp5400:0.6973,ExAC:0.6530,clinvar:rs6599250,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:157693,GnomAD_AN_exome:243564,GnomAD_AC_genome:21620,GnomAD_AN_genome:30872,GnomAD:0.6534;SGVEP=SCN10A|-|NM_001293306|13|c.1868-9A>G|.|intronic GT:DP:AD:DP4 0/1:83:47,36:22,25,18,18 3 38805130 97395948 C G 498 off_target VARTYPE=1;BGN=0.00117154;ARL=239;DER=99;DEA=66;QR=36;QA=37;PBP=240;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs73826327,g1000:0.1190,esp5400:0.0999,ExAC:0.0700,GnomAD_AC_exome:16028,GnomAD_AN_exome:243940,GnomAD_AC_genome:2950,GnomAD_AN_genome:30922,GnomAD:0.0690;SGVEP=SCN10A|-|NM_001293306|5|c.600-43G>C|.|intronic GT:DP:AD:DP4 0/1:26:7,19:3,4,9,10 3 38812650 97399953 G A 224 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=273;DER=32;DEA=48;QR=35;QA=36;PBP=125;PBM=102;TYPE=SNP;DBXREF=dbSNP:rs10212338,g1000:0.2248,GnomAD_AC_genome:7848,GnomAD_AN_genome:30886,GnomAD:0.2541;SGVEP=SCN10A|-|NM_001293306|4|c.599+120C>T|.|intronic GT:DP:AD:DP4 0/1:14:5,9:3,2,5,4 3 38945560 97499832 A G 2797 PASS VARTYPE=1;BGN=0.00117154;ARL=239;DEA=85;QA=37;PBP=1344;PBM=1461;TYPE=SNP;DBXREF=dbSNP:rs4073113,g1000:0.6124,esp5400:0.6026,ExAC:0.6460,clinvar:rs4073113,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:148656,GnomAD_AN_exome:228302,GnomAD_AC_genome:18653,GnomAD_AN_genome:30870,GnomAD:0.6456;SGVEP=SCN11A|-|NM_001287223|13|c.1638T>C|p.(Cys546:)|synonymous GT:DP:AD:DP4 1/1:96:0,96:0,0,46,50 3 38946872 97500468 A T 1082 off_target VARTYPE=1;BGN=0.00117154;ARL=240;DEA=43;QA=37;PBP=527;PBM=556;TYPE=SNP;DBXREF=dbSNP:rs4514993,g1000:0.8740,GnomAD_AC_genome:27307,GnomAD_AN_genome:30942,GnomAD:0.8825;SGVEP=SCN11A|-|NM_001287223|12|c.1474-60T>A|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,18,19 3 38949363 97501290 A C 484 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=265;DEA=44;QA=36;PBP=285;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs6599267,g1000:0.8928,GnomAD_AC_genome:27784,GnomAD_AN_genome:30942,GnomAD:0.8979;SGVEP=SCN11A|-|NM_001287223|11|c.1473+77T>G|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,10,7 3 38951753 97502789 T C 702 off_target VARTYPE=1;BGN=0.00117154;ARL=240;DEA=50;QA=37;PBP=322;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs7429404,g1000:0.8928,GnomAD_AC_genome:27787,GnomAD_AN_genome:30938,GnomAD:0.8982;SGVEP=SCN11A|-|NM_001287223|9|c.960-55A>G|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,11,13 3 38961537 97505786 T C 644 off_target VARTYPE=1;BGN=0.00117154;ARL=215;DEA=52;QA=37;PBP=322;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs6779297,g1000:0.8928,esp5400:0.8850,ExAC:0.8870,GnomAD_AC_exome:211072,GnomAD_AN_exome:238620,GnomAD_AC_genome:27799,GnomAD_AN_genome:30956,GnomAD:0.8861;SGVEP=SCN11A|-|NM_001287223|8|c.893-45A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 3 38967103 97508201 C T 271 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=267;DEA=51;QA=38;PBP=150;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs4676474,g1000:0.4509,GnomAD_AC_genome:15014,GnomAD_AN_genome:30894,GnomAD:0.4860;SGVEP=SCN11A|-|NM_001287223|6|c.618-103G>A|.|intronic GT:DP:AD:DP4 1/1:9:0,9:0,0,5,4 3 39307256 75402 C T 1172 PASS VARTYPE=1;BGN=0.00117154;ARL=207;DER=84;DEA=103;QR=37;QA=37;PBP=567;PBM=616;TYPE=SNP;DBXREF=dbSNP:rs3732379,g1000:0.1444,esp5400:0.2303,ExAC:0.2210,PhyloP:-0.5550,SIFT:0.0000,PolyPhen2:0.0180,PolyPhen2_HumDiv:0.0330,LRT:0.9630,MutationTaster:0.0000,GERP:-2.3200,clinvar:rs3732379,CLNREVSTAT:no_interpretation_for_the_single_variant,GnomAD_AC_exome:55159,GnomAD_AN_exome:246150,GnomAD_AC_genome:6614,GnomAD_AN_genome:30904,GnomAD:0.2230;SGVEP=CX3CR1|-|NM_001171171|2|c.745G>A|p.(Val249Ile)|missense GT:DP:AD:DP4 0/1:121:69,52:34,35,25,27 3 39323163 97693753 A C 1607 PASS VARTYPE=1;BGN=0.00117154;ARL=215;DEA=88;QA=37;PBP=790;PBM=819;TYPE=SNP;DBXREF=dbSNP:rs11715522,g1000:0.4229,esp5400:0.3308,ExAC:0.4100,PhyloP:-0.4140,SIFT:0.1390,MutationTaster:0.0000,GERP:-2.3500,GnomAD_AC_exome:96926,GnomAD_AN_exome:230704,GnomAD_AC_genome:11089,GnomAD_AN_genome:30810,GnomAD:0.4130;SGVEP=CX3CR1|-|NM_001171174|1|c.24T>G|p.(Phe8Leu)|missense GT:DP:AD:DP4 1/1:55:0,55:0,0,27,28 3 41274764 98574513 C A 841 off_target VARTYPE=1;BGN=0.000976189;ARL=241;DEA=36;QA=38;PBP=421;PBM=421;TYPE=SNP;DBXREF=dbSNP:rs2691680,g1000:0.9934,GnomAD_AC_genome:30841,GnomAD_AN_genome:30986,GnomAD:0.9953;SGVEP=CTNNB1|+|NM_001098209|8|c.1082-68C>A|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,14,14 3 41607388 98710344 T C 132 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=284;DER=28;DEA=7;QR=38;QA=35;PBP=92;PBM=44;SP=2;TYPE=SNP;DBXREF=dbSNP:rs6786299,g1000:0.3045,GnomAD_AC_genome:10143,GnomAD_AN_genome:30914,GnomAD:0.3281;SGVEP=ULK4|-|NM_001322500|32|c.3226+128A>G|.|intronic GT:DP:AD:DP4 0/1:14:8,6:4,4,4,2 3 41607541 98710516 C T 699 PASS VARTYPE=1;BGN=0.00117154;ARL=222;DER=81;DEA=87;QR=37;QA=37;PBP=365;PBM=343;TYPE=SNP;DBXREF=dbSNP:rs143473972,g1000:0.0024,esp5400:0.0052,ExAC:0.0047,GnomAD_AC_exome:1084,GnomAD_AN_exome:245894,GnomAD_AC_genome:99,GnomAD_AN_genome:30952,GnomAD:0.0043;SGVEP=ULK4|-|NM_001322500|32|c.3201G>A|p.(Ser1067:)|synonymous GT:DP:AD:DP4 0/1:101:68,33:35,33,17,16 3 41607701 98710734 C G 797 off_target VARTYPE=1;BGN=0.00140598;ARL=257;DEA=57;QA=36;PBP=342;PBM=456;TYPE=SNP;DBXREF=dbSNP:rs1565957,g1000:0.6777,GnomAD_AC_genome:23361,GnomAD_AN_genome:30924,GnomAD:0.7554;SGVEP=ULK4|-|NM_001322500|32|c.3121-80G>C|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,12,16 3 41756965 98744823 C T 262 low_variant_fraction VARTYPE=1;BGN=0.000976189;ARL=217;DER=74;DEA=84;QR=37;QA=38;PBP=135;PBM=134;TYPE=SNP;DBXREF=dbSNP:rs61744388,g1000:0.2656,esp5400:0.2642,ExAC:0.1980,PhyloP:-2.4510,SIFT:0.5580,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0020,LRT:0.9700,MutationTaster:0.0000,GERP:-10.1000,GnomAD_AC_exome:47226,GnomAD_AN_exome:245944,GnomAD_AC_genome:8217,GnomAD_AN_genome:30866,GnomAD:0.2003;SGVEP=ULK4|-|NM_001322500|24|c.2551G>A|p.(Val851Ile)|missense GT:DP:AD:DP4 0/1:89:75,14:37,38,7,7 3 41756986 98744852 A T 217 low_variant_fraction VARTYPE=1;BGN=0.000976189;ARL=218;DER=91;DEA=75;QR=37;QA=38;PBP=112;PBM=111;TYPE=SNP;DBXREF=dbSNP:rs61744385,g1000:0.2656,esp5400:0.2639,ExAC:0.1980,PhyloP:-0.9300,SIFT:0.0350,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0010,LRT:0.9900,MutationTaster:0.1400,GERP:-1.8200,GnomAD_AC_exome:47219,GnomAD_AN_exome:245900,GnomAD_AC_genome:8208,GnomAD_AN_genome:30852,GnomAD:0.2003;SGVEP=ULK4|-|NM_001322500|24|c.2530T>A|p.(Leu844Met)|missense GT:DP:AD:DP4 0/1:90:78,12:38,40,6,6 3 41759191 98745580 T C 707 off_target VARTYPE=1;BGN=0.00117154;ARL=230;DER=54;DEA=63;QR=37;QA=37;PBP=370;PBM=344;TYPE=SNP;DBXREF=dbSNP:rs17060938,g1000:0.3185,esp5400:0.3201,ExAC:0.2140,GnomAD_AC_exome:50508,GnomAD_AN_exome:244604,GnomAD_AC_genome:9921,GnomAD_AN_genome:30888,GnomAD:0.2193;SGVEP=ULK4|-|NM_001322500|23|c.2455+29A>G|.|intronic GT:DP:AD:DP4 0/1:51:22,29:11,11,15,14 3 41795841 98757392 A C 506 off_target VARTYPE=1;BGN=0.00117154;ARL=212;DER=62;DEA=36;QR=36;QA=37;PBP=245;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs9867627,g1000:0.2167,esp5400:0.2275,ExAC:0.1850,GnomAD_AC_exome:43658,GnomAD_AN_exome:240332,GnomAD_AC_genome:7177,GnomAD_AN_genome:30926,GnomAD:0.1874;SGVEP=ULK4|-|NM_001322500|22|c.2321+12T>G|.|intronic GT:DP:AD:DP4 0/1:62:39,23:19,20,11,12 3 41831203 98783411 C T 787 PASS VARTYPE=1;BGN=0.00140598;ARL=211;DER=77;DEA=81;QR=37;QA=36;PBP=385;PBM=410;TYPE=SNP;DBXREF=dbSNP:rs17215589,g1000:0.0815,esp5400:0.1227,ExAC:0.1240,PhyloP:-0.0470,SIFT:0.0000,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0010,LRT:0.9990,MutationTaster:1.0000,GERP:2.3100,GnomAD_AC_exome:30119,GnomAD_AN_exome:242466,GnomAD_AC_genome:3805,GnomAD_AN_genome:30956,GnomAD:0.1241;SGVEP=ULK4|-|NM_001322500|21|c.2143G>A|p.(Ala715Thr)|missense GT:DP:AD:DP4 0/1:73:38,35:19,19,17,18 3 41841716 98787357 A C 1228 PASS VARTYPE=1;BGN=0.00117154;ARL=221;DEA=96;QA=37;PBP=615;PBM=615;TYPE=SNP;DBXREF=dbSNP:rs4973986,g1000:0.8700,esp5400:0.8812,ExAC:0.8510,PhyloP:1.3940,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9820,MutationTaster:1.0000,GERP:5.3200,clinvar:rs4973986,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:209027,GnomAD_AN_exome:245700,GnomAD_AC_genome:26674,GnomAD_AN_genome:30926,GnomAD:0.8521;SGVEP=ULK4|-|NM_001322500|20|c.1918T>G|p.(Ser640Ala)|missense GT:DP:AD:DP4 1/1:42:0,42:0,0,21,21 3 41841811 98787461 T TATTA 173 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=224;DER=38;DEA=76;QR=38;QA=145;PBP=75;PBM=102;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs149544106,g1000:0.0831,ExAC:0.1230,GnomAD_AC_exome:28192,GnomAD_AN_exome:228534,GnomAD_AC_genome:3832,GnomAD_AN_genome:30948,GnomAD:0.1234;SGVEP=ULK4|-|NM_001322500|20|c.1849-30_1849-27dup|.|intronic GT:DP:AD:DP4 0/1:15:8,7:4,4,3,4 3 41877414 98803054 T C 217 PASS VARTYPE=1;BGN=0.00140598;ARL=200;DER=79;DEA=85;QR=34;QA=36;PBP=124;PBM=100;TYPE=SNP;DBXREF=dbSNP:rs3774372,g1000:0.1727,esp5400:0.1796,ExAC:0.1710,PhyloP:2.2040,SIFT:0.6780,PolyPhen2:0.2880,PolyPhen2_HumDiv:0.7800,LRT:1.0000,MutationTaster:1.0000,GERP:5.4800,GnomAD_AC_exome:41401,GnomAD_AN_exome:245070,GnomAD_AC_genome:5596,GnomAD_AN_genome:30724,GnomAD:0.1704;SGVEP=ULK4|-|NM_001322500|18|c.1706A>G|p.(Lys569Arg)|missense GT:DP:AD:DP4 0/1:42:31,11:15,16,6,5 3 41925423 98834609 T C 498 low_coverage VARTYPE=1;BGN=0.00117154;ARL=222;DEA=96;QA=37;PBP=264;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs1716687,g1000:0.9193,esp5400:0.9238,ExAC:0.9770,clinvar:rs1716687,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:241184,GnomAD_AN_exome:246224,GnomAD_AC_genome:28852,GnomAD_AN_genome:30978,GnomAD:0.9741;SGVEP=ULK4|-|NM_001322500|17|c.1599A>G|p.(Val533:)|synonymous GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 3 41938500 98840159 G C 1257 PASS VARTYPE=1;BGN=0.00117154;ARL=244;DEA=69;QA=37;PBP=615;PBM=644;TYPE=SNP;DBXREF=dbSNP:rs1717005,g1000:0.9189,esp5400:0.9245,ExAC:0.9760,clinvar:rs1717005,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:234688,GnomAD_AN_exome:239688,GnomAD_AC_genome:28822,GnomAD_AN_genome:30958,GnomAD:0.9736;SGVEP=ULK4|-|NM_001322500|15|c.1349-5C>G|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,21,22 3 41939993 98840958 T A 224 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=183;DER=19;DEA=62;QR=38;QA=38;PBP=113;PBM=113;TYPE=SNP;DBXREF=dbSNP:rs1625226,g1000:0.6981,esp5400:0.9105,ExAC:0.9460,clinvar:rs1625226,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:190152,GnomAD_AN_exome:202972,GnomAD_AC_genome:28204,GnomAD_AN_genome:30386,GnomAD:0.9357;SGVEP=ULK4|-|NM_001322500|14|c.1288-9A>T|.|intronic GT:DP:AD:DP4 1/1:10:2,8:1,1,4,4 3 41942199 98841765 T C 385 off_target VARTYPE=1;BGN=0.000976189;ARL=213;DER=54;DEA=52;QR=38;QA=38;PBP=194;PBM=197;TYPE=SNP;DBXREF=dbSNP:rs1717007,g1000:0.6819,esp5400:0.6786,ExAC:0.7860,GnomAD_AC_exome:192450,GnomAD_AN_exome:242414,GnomAD_AC_genome:21137,GnomAD_AN_genome:30948,GnomAD:0.7813;SGVEP=ULK4|-|NM_001322500|13|c.1287+18A>G|.|intronic GT:DP:AD:DP4 0/1:35:19,16:10,9,8,8 3 41949301 98844832 T C 364 off_target VARTYPE=1;BGN=0.00117154;ARL=229;DER=73;DEA=13;QR=38;QA=37;PBP=184;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs59146151,g1000:0.0841,esp5400:0.1272,ExAC:0.1240,GnomAD_AC_exome:23805,GnomAD_AN_exome:180800,GnomAD_AC_genome:3900,GnomAD_AN_genome:30972,GnomAD:0.1308;SGVEP=ULK4|-|NM_001322500|12|c.1182+36A>G|.|intronic GT:DP:AD:DP4 0/1:20:6,14:3,3,7,7 3 41952781 98846351 C T 481 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=189;DEA=55;QA=38;PBP=241;PBM=241;TYPE=SNP;DBXREF=dbSNP:rs1716991,g1000:0.9405,esp5400:0.9459,ExAC:0.9830,GnomAD_AC_exome:241014,GnomAD_AN_exome:244678,GnomAD_AC_genome:29395,GnomAD_AN_genome:30960,GnomAD:0.9810;SGVEP=ULK4|-|NM_001322500|11|c.1085+28G>A|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 3 41952852 98846442 T C 178 PASS VARTYPE=1;BGN=0.00117154;ARL=191;DER=102;DEA=54;QR=37;QA=37;PBP=90;PBM=92;SP=0;TYPE=SNP;DBXREF=dbSNP:rs35263917,g1000:0.0841,esp5400:0.1275,ExAC:0.1240,PhyloP:1.9790,SIFT:0.9970,PolyPhen2:0.4370,PolyPhen2_HumDiv:0.9170,LRT:0.8620,MutationTaster:1.0000,GERP:5.2200,GnomAD_AC_exome:30626,GnomAD_AN_exome:246054,GnomAD_AC_genome:3900,GnomAD_AN_genome:30970,GnomAD:0.1246;SGVEP=ULK4|-|NM_001322500|11|c.1042A>G|p.(Ser348Gly)|missense GT:DP:AD:DP4 0/1:23:15,8:8,7,4,4 3 41960006 98870044 T C 193 low_coverage VARTYPE=1;BGN=0.00117154;ARL=180;DER=55;DEA=91;QR=36;QA=37;PBP=126;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1716975,g1000:0.6799,esp5400:0.6759,ExAC:0.7850,PhyloP:-1.4660,SIFT:0.4640,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0000,LRT:0.2100,MutationTaster:0.0000,GERP:-5.8900,clinvar:rs1716975,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:178648,GnomAD_AN_exome:227040,GnomAD_AC_genome:20973,GnomAD_AN_genome:30824,GnomAD:0.7741;SGVEP=ULK4|-|NM_001322500|7|c.670A>G|p.(Ile224Val)|missense GT:DP:AD:DP4 0/1:16:8,8:4,4,5,3 3 41977464 98881636 A C 442 off_target VARTYPE=1;BGN=0.00140598;ARL=220;DER=21;DEA=72;QR=37;QA=36;PBP=225;PBM=225;TYPE=SNP;DBXREF=dbSNP:rs73071203,g1000:0.0839,esp5400:0.1235,ExAC:0.1240,GnomAD_AC_exome:30438,GnomAD_AN_exome:236694,GnomAD_AC_genome:3884,GnomAD_AN_genome:26008,GnomAD:0.1306;SGVEP=ULK4|-|NM_001322500|4|c.239-32T>G|.|intronic GT:DP:AD:DP4 0/1:46:26,20:13,13,10,10 3 41977488 98881693 CCT C 154 off_target VARTYPE=1;BGN=0.000976189;ARL=230;DER=57;DEA=21;QR=37;QA=70;PBP=67;PBM=92;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs58069203,g1000:0.7294,GnomAD_AC_genome:22421,GnomAD_AN_genome:30774,GnomAD:0.7286;SGVEP=ULK4|-|NM_001322500|4|c.239-58_239-57del|.|intronic GT:DP:AD:DP4 0/1:25:18,7:9,9,3,4 3 41996136 98892271 T C 454 PASS VARTYPE=1;BGN=0.00140598;ARL=223;DER=97;DEA=72;QR=37;QA=36;PBP=273;PBM=188;TYPE=SNP;DBXREF=dbSNP:rs2272007,g1000:0.6821,esp5400:0.6790,ExAC:0.7860,PhyloP:1.0580,SIFT:0.6890,PolyPhen2:0.1320,PolyPhen2_HumDiv:0.2050,LRT:1.0000,MutationTaster:0.9580,GERP:4.4000,clinvar:rs2272007,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:195038,GnomAD_AN_exome:245846,GnomAD_AC_genome:21085,GnomAD_AN_genome:30894,GnomAD:0.7810;SGVEP=ULK4|-|NM_001322500|2|c.116A>G|p.(Lys39Arg)|missense GT:DP:AD:DP4 0/1:66:44,22:25,19,13,9 3 41996275 98892524 A G 965 PASS VARTYPE=1;BGN=0.00117154;ARL=203;DEA=57;QA=37;PBP=439;PBM=527;TYPE=SNP;DBXREF=dbSNP:rs7651623,g1000:0.9155,esp5400:0.9231,ExAC:0.9760,GnomAD_AC_exome:229724,GnomAD_AN_exome:234748,GnomAD_AC_genome:28774,GnomAD_AN_genome:30942,GnomAD:0.9729;SGVEP=ULK4|-|NM_001322500|2|c.-24T>C|.|5'UTR GT:DP:AD:DP4 1/1:33:0,33:0,0,15,18 3 41996304 98892563 G A 401 PASS VARTYPE=1;BGN=0.00117154;ARL=221;DER=58;DEA=29;QR=37;QA=37;PBP=176;PBM=231;TYPE=SNP;DBXREF=dbSNP:rs17284472,g1000:0.0966,GnomAD_AC_genome:4300,GnomAD_AN_genome:30928,GnomAD:0.1390;SGVEP=ULK4|-|NM_001322500|2|c.-48-5C>T|.|intronic GT:DP:AD:DP4 0/1:26:10,16:5,5,7,9 3 42202061 98946720 G T 340 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=212;DEA=50;QA=37;PBP=176;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs4974003,g1000:0.7907,GnomAD_AC_genome:20915,GnomAD_AN_genome:27202,GnomAD:0.7689;SGVEP=TRAK1|+|NM_001042646|3|c.287-16245G>T|.|intronic GT:DP:AD:DP4 1/1:13:0,12:0,0,6,6 3 42226151 98988913 T C 621 off_target VARTYPE=1;BGN=0.00117154;ARL=212;DER=54;DEA=73;QR=37;QA=37;PBP=298;PBM=331;TYPE=SNP;DBXREF=dbSNP:rs4234445,g1000:0.7428,esp5400:0.6748,ExAC:0.7190,GnomAD_AC_exome:177967,GnomAD_AN_exome:244248,GnomAD_AC_genome:22166,GnomAD_AN_genome:30924,GnomAD:0.7273;SGVEP=TRAK1|+|NM_001042646|4|c.364-26T>C|.|intronic GT:DP:AD:DP4 0/1:60:33,27:18,15,13,14 3 42229398 98990014 A T 162 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=264;DER=29;DEA=43;QR=37;QA=37;PBP=96;PBM=70;SP=0;TYPE=SNP;DBXREF=dbSNP:rs73828589,g1000:0.0493,GnomAD_AC_genome:1909,GnomAD_AN_genome:30970,GnomAD:0.0616;SGVEP=TRAK1|+|NM_001042646|5|c.481-139A>T|.|intronic GT:DP:AD:DP4 0/1:17:10,7:5,5,4,3 3 42229521 98990083 T C 1316 off_target VARTYPE=1;BGN=0.00117154;ARL=220;DER=63;DEA=62;QR=37;QA=37;PBP=658;PBM=670;TYPE=SNP;DBXREF=dbSNP:rs77415216,g1000:0.0493,esp5400:0.0618,ExAC:0.0630,GnomAD_AC_exome:14472,GnomAD_AN_exome:245662,GnomAD_AC_genome:1901,GnomAD_AN_genome:30942,GnomAD:0.0592;SGVEP=TRAK1|+|NM_001042646|5|c.481-16T>C|.|intronic GT:DP:AD:DP4 0/1:110:54,56:29,25,28,28 3 42229527 98990107 G T 1435 off_target VARTYPE=1;BGN=0.00117154;ARL=218;DER=64;DEA=67;QR=37;QA=37;PBP=757;PBM=690;TYPE=SNP;DBXREF=dbSNP:rs74685550,g1000:0.0493,esp5400:0.0618,ExAC:0.0630,GnomAD_AC_exome:14485,GnomAD_AN_exome:245786,GnomAD_AC_genome:1902,GnomAD_AN_genome:30942,GnomAD:0.0592;SGVEP=TRAK1|+|NM_001042646|5|c.481-10G>T|.|intronic GT:DP:AD:DP4 0/1:119:58,61:31,27,32,29 3 42230395 98990394 C T 247 off_target VARTYPE=1;BGN=0.00140598;ARL=279;DER=59;DEA=48;QR=34;QA=36;PBP=139;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs3816396,g1000:0.2031,GnomAD_AC_genome:7653,GnomAD_AN_genome:30888,GnomAD:0.2478;SGVEP=TRAK1|+|NM_001042646|6|c.582-113C>T|.|intronic GT:DP:AD:DP4 0/1:25:14,11:7,7,6,5 3 42230655 98990703 T A 377 off_target VARTYPE=1;BGN=0.00117154;ARL=240;DER=61;DEA=41;QR=37;QA=37;PBP=205;PBM=179;TYPE=SNP;DBXREF=dbSNP:rs73828591,g1000:0.0495,esp5400:0.0599,ExAC:0.0620,GnomAD_AC_exome:14083,GnomAD_AN_exome:238404,GnomAD_AC_genome:1906,GnomAD_AN_genome:30952,GnomAD:0.0594;SGVEP=TRAK1|+|NM_001042646|6|c.690+39T>A|.|intronic GT:DP:AD:DP4 0/1:45:28,17:14,14,9,8 3 42230743 98990749 G A 239 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=274;DER=29;DEA=26;QR=28;QA=36;PBP=107;PBM=135;TYPE=SNP;DBXREF=dbSNP:rs2290135,g1000:0.2364,GnomAD_AC_genome:7785,GnomAD_AN_genome:30900,GnomAD:0.2519;SGVEP=TRAK1|+|NM_001042646|6|c.690+127G>A|.|intronic GT:DP:AD:DP4 1/1:11:2,9:1,1,4,5 3 42234740 98992782 G A 886 off_target VARTYPE=1;BGN=0.00140598;ARL=239;DER=66;DEA=46;QR=37;QA=36;PBP=445;PBM=449;TYPE=SNP;DBXREF=dbSNP:rs2290137,g1000:0.2218,esp5400:0.1989,ExAC:0.2480,GnomAD_AC_exome:61598,GnomAD_AN_exome:242282,GnomAD_AC_genome:7459,GnomAD_AN_genome:30924,GnomAD:0.2528;SGVEP=TRAK1|+|NM_001042646|8|c.900+43G>A|.|intronic GT:DP:AD:DP4 0/1:69:31,38:16,15,19,19 3 42234814 98992877 G C 144 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=286;DER=65;DEA=60;QR=36;QA=36;PBP=76;PBM=73;SP=0;TYPE=SNP;DBXREF=dbSNP:rs55720913,g1000:0.0481,GnomAD_AC_genome:1774,GnomAD_AN_genome:30960,GnomAD:0.0573;SGVEP=TRAK1|+|NM_001042646|8|c.900+117G>C|.|intronic GT:DP:AD:DP4 0/1:11:5,6:2,3,3,3 3 42236415 98994445 A G 2811 PASS VARTYPE=1;BGN=0.000976189;ARL=223;DEA=77;QA=38;PBP=1350;PBM=1470;TYPE=SNP;DBXREF=dbSNP:rs9851455,g1000:0.7883,esp5400:0.7315,ExAC:0.7810,GnomAD_AC_exome:192732,GnomAD_AN_exome:244840,GnomAD_AC_genome:23968,GnomAD_AN_genome:30910,GnomAD:0.7859;SGVEP=TRAK1|+|NM_001042646|10|c.1095A>G|p.(Ser365:)|synonymous GT:DP:AD:DP4 1/1:94:0,94:0,0,45,49 3 42236482 98994548 C T 342 off_target VARTYPE=1;BGN=0.00117154;ARL=245;DER=67;DEA=65;QR=37;QA=37;PBP=167;PBM=181;TYPE=SNP;DBXREF=dbSNP:rs41289570,g1000:0.0481,esp5400:0.0560,ExAC:0.0560,GnomAD_AC_exome:12304,GnomAD_AN_exome:228946,GnomAD_AC_genome:1775,GnomAD_AN_genome:30970,GnomAD:0.0542;SGVEP=TRAK1|+|NM_001042646|10|c.1113+49C>T|.|intronic GT:DP:AD:DP4 0/1:36:21,15:8,13,7,8 3 42243868 98999119 G C 541 off_target VARTYPE=1;BGN=0.00168734;ARL=242;DER=36;DEA=41;QR=33;QA=35;PBP=286;PBM=259;TYPE=SNP;DBXREF=dbSNP:rs73831717,g1000:0.0481,GnomAD_AC_genome:1770,GnomAD_AN_genome:30942,GnomAD:0.0572;SGVEP=TRAK1|+|NM_001042646|13|c.1428-60G>C|.|intronic GT:DP:AD:DP4 1/1:25:4,21:2,2,11,10 3 42244321 99000255 G A 1345 PASS VARTYPE=1;BGN=0.00117154;ARL=216;DER=99;DEA=82;QR=36;QA=37;PBP=667;PBM=690;TYPE=SNP;DBXREF=dbSNP:rs9311309,g1000:0.7440,ExAC:0.7160,GnomAD_AC_exome:160172,GnomAD_AN_exome:217042,GnomAD_AC_genome:22268,GnomAD_AN_genome:30896,GnomAD:0.7358;SGVEP=TRAK1|+|NM_001265610|12|c.1599G>A|p.(Ala533:)|synonymous GT:DP:AD:DP4 0/1:110:53,57:26,27,28,29 3 42251263 99003818 C T 343 PASS VARTYPE=1;BGN=0.00117154;ARL=229;DER=96;DEA=65;QR=37;QA=37;PBP=199;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs2290134,g1000:0.5150,esp5400:0.4938,ExAC:0.5280,GnomAD_AC_exome:130192,GnomAD_AN_exome:245386,GnomAD_AC_genome:15399,GnomAD_AN_genome:30888,GnomAD:0.5270;SGVEP=TRAK1|+|NM_001042646|14|c.1749C>T|p.(Ser583:)|synonymous GT:DP:AD:DP4 0/1:49:33,16:17,16,9,7 3 42251577 99004507 C CGGA 707 PASS VARTYPE=1;BGN=0.000976189;ARL=227;DER=93;DEA=85;QR=37;QA=108;PBP=342;PBM=375;TYPE=INDEL;DBXREF=dbSNP:rs778048843,GnomAD_AC_exome:51170,GnomAD_AN_exome:186910,GnomAD_AC_genome:8556,GnomAD_AN_genome:28682,GnomAD:0.2770;SGVEP=TRAK1|+|NM_001265608|14|c.2093_2095dup|p.(Glu698dup)|inframe_3 GT:DP:AD:DP4 0/1:112:22,33:13,9,16,17 3 42251577 99004512 CGGA C 1235 PASS VARTYPE=1;BGN=0.000976189;ARL=227;DER=93;DEA=86;QR=37;QA=109;PBP=618;PBM=629;TYPE=INDEL;DBXREF=dbSNP:rs753440774,GnomAD_AC_exome:35294,GnomAD_AN_exome:186910,GnomAD_AC_genome:5773,GnomAD_AN_genome:28682,GnomAD:0.1905;SGVEP=TRAK1|+|NM_001265608|14|c.2093_2095del|p.(Glu698del)|inframe_3 GT:DP:AD:DP4 0/1:112:22,52:13,9,26,26 3 42261152 99009331 A G 245 off_target VARTYPE=1;BGN=0.00117154;ARL=237;DER=40;DEA=44;QR=38;QA=37;PBP=114;PBM=137;TYPE=SNP;DBXREF=dbSNP:rs72871313,g1000:0.0807,GnomAD_AC_genome:3065,GnomAD_AN_genome:30900,GnomAD:0.0992;SGVEP=TRAK1|+|NM_001042646|15|c.2066+64A>G|.|intronic GT:DP:AD:DP4 0/1:30:19,11:9,10,5,6 3 42264393 99010984 A G 907 off_target VARTYPE=1;BGN=0.00117154;ARL=230;DEA=50;QA=37;PBP=498;PBM=410;TYPE=SNP;DBXREF=dbSNP:rs3733053,g1000:0.4754,esp5400:0.4738,ExAC:0.4260,GnomAD_AC_exome:95897,GnomAD_AN_exome:225244,GnomAD_AC_genome:15532,GnomAD_AN_genome:30872,GnomAD:0.4351;SGVEP=TRAK1|+|NM_001042646|16|c.2067-41A>G|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,17,14 3 42264422 99011047 T C 1403 off_target VARTYPE=1;BGN=0.00117154;ARL=219;DEA=55;QA=37;PBP=702;PBM=702;TYPE=SNP;DBXREF=dbSNP:rs3733054,g1000:0.4758,esp5400:0.4797,ExAC:0.4290,GnomAD_AC_exome:102476,GnomAD_AN_exome:241954,GnomAD_AC_genome:15527,GnomAD_AN_genome:30846,GnomAD:0.4326;SGVEP=TRAK1|+|NM_001042646|16|c.2067-12T>C|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,24,24 3 42265166 99012547 T C 1302 PASS VARTYPE=1;BGN=0.00117154;ARL=232;DER=112;DEA=103;QR=36;QA=37;PBP=643;PBM=670;TYPE=SNP;DBXREF=dbSNP:rs12487911,g1000:0.2057,esp5400:0.1824,ExAC:0.1190,GnomAD_AC_exome:27428,GnomAD_AN_exome:246120,GnomAD_AC_genome:5636,GnomAD_AN_genome:30852,GnomAD:0.1194;SGVEP=TRAK1|+|NM_001042646|16|c.2799T>C|p.(Pro933:)|synonymous GT:DP:AD:DP4 0/1:105:50,55:25,25,27,28 3 42265270 99012874 TCTC T 580 off_target VARTYPE=1;BGN=0.000976189;ARL=227;DER=50;DEA=62;QR=36;QA=108;PBP=270;PBM=318;TYPE=INDEL;DBXREF=dbSNP:rs397791030,g1000:0.2360,ExAC:0.2930,GnomAD_AC_exome:63047,GnomAD_AN_exome:210048,GnomAD_AC_genome:8893,GnomAD_AN_genome:30616,GnomAD:0.2989;SGVEP=TRAK1|+|NM_001042646|16|c.*45_*47del|.|3'UTR GT:DP:AD:DP4 0/1:50:26,24:12,14,11,13 3 43121559 99419538 C T 1685 PASS VARTYPE=1;BGN=0.00140598;ARL=224;DER=109;DEA=91;QR=36;QA=36;PBP=896;PBM=802;TYPE=SNP;DBXREF=dbSNP:rs604033,g1000:0.7827,esp5400:0.8001,ExAC:0.7850,clinvar:rs604033,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:193691,GnomAD_AN_exome:245620,GnomAD_AC_genome:24686,GnomAD_AN_genome:30874,GnomAD:0.7898;SGVEP=POMGNT2|-|NM_032806|2|c.1365G>A|p.(Pro455:)|synonymous GT:DP:AD:DP4 0/1:134:61,73:28,33,38,35 3 43345175 99522457 G A 1202 PASS VARTYPE=1;BGN=0.00117154;ARL=214;DER=95;DEA=101;QR=37;QA=37;PBP=581;PBM=632;TYPE=SNP;DBXREF=dbSNP:rs17406308,g1000:0.0140,esp5400:0.0247,ExAC:0.0290,GnomAD_AC_exome:6945,GnomAD_AN_exome:245472,GnomAD_AC_genome:809,GnomAD_AN_genome:30954,GnomAD:0.0281;SGVEP=SNRK|+|NM_001100594|2|c.480G>A|p.(Gly160:)|synonymous GT:DP:AD:DP4 0/1:132:78,54:39,39,26,28 3 43414318 99532706 A G 10000 PASS VARTYPE=1;BGN=0.00140598;ARL=209;DEA=72;QA=36;PBP=2441;PBM=2413;TYPE=SNP;DBXREF=dbSNP:rs6441771,g1000:0.9814,ExAC:0.9970,PhyloP:-1.6830,SIFT:0.7370,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-3.7700,GnomAD_AC_exome:123010,GnomAD_AN_exome:123474,GnomAD_AC_genome:30399,GnomAD_AN_genome:30976,GnomAD:0.9933;SGVEP=ANO10|-|NM_001204831|12|c.1819T>C|p.(Ser607Pro)|missense GT:DP:AD:DP4 1/1:171:0,171:0,0,86,85 3 43591142 99591681 G A 247 off_target VARTYPE=1;BGN=0.00117154;ARL=235;DER=33;DEA=47;QR=36;QA=37;PBP=127;PBM=126;TYPE=SNP;DBXREF=dbSNP:rs12638282,g1000:0.5421,GnomAD_AC_genome:15599,GnomAD_AN_genome:30874,GnomAD:0.5052;SGVEP=ANO10|-|NM_001204831|11|c.1797+70C>T|.|intronic GT:DP:AD:DP4 0/1:45:33,12:16,17,6,6 3 43592906 99591891 T C 420 off_target VARTYPE=1;BGN=0.000976189;ARL=239;DER=42;DEA=54;QR=37;QA=38;PBP=227;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs9829081,g1000:0.8476,GnomAD_AC_genome:24970,GnomAD_AN_genome:30906,GnomAD:0.8079;SGVEP=ANO10|-|NM_001204831|11|c.1669-1566A>G|.|intronic GT:DP:AD:DP4 0/1:33:16,17:8,8,9,8 3 43602803 75484 C T 279 PASS VARTYPE=1;BGN=0.000976189;ARL=218;DER=99;DEA=76;QR=36;QA=38;PBP=142;PBM=143;TYPE=SNP;DBXREF=dbSNP:rs3772165,g1000:0.6631,esp5400:0.5572,ExAC:0.6500,PhyloP:-0.9090,SIFT:0.8420,PolyPhen2:0.0740,PolyPhen2_HumDiv:0.6300,LRT:0.9710,MutationTaster:0.0000,GERP:-5.4300,clinvar:rs3772165,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:161840,GnomAD_AN_exome:246230,GnomAD_AC_genome:18596,GnomAD_AN_genome:30944,GnomAD:0.6510;SGVEP=ANO10|-|NM_001204831|9|c.1385G>A|p.(Arg462Gln)|missense GT:DP:AD:DP4 0/1:69:55,14:28,27,7,7 3 43607136 99597948 T C 215 off_target VARTYPE=1;BGN=0.00168734;ARL=182;DER=61;DEA=72;QR=35;QA=35;PBP=131;PBM=91;SP=1;TYPE=SNP;DBXREF=dbSNP:rs7616708,g1000:0.6368,esp5400:0.5258,ExAC:0.6030,clinvar:rs7616708,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:116401,GnomAD_AN_exome:177282,GnomAD_AC_genome:17584,GnomAD_AN_genome:30542,GnomAD:0.6447;SGVEP=ANO10|-|NM_001204831|8|c.1293+9A>G|.|intronic GT:DP:AD:DP4 0/1:56:44,12:23,21,7,5 3 43642126 99603829 C A 145 off_target VARTYPE=1;BGN=0.00168734;ARL=248;DER=57;DEA=22;QR=37;QA=35;PBP=64;PBM=86;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6441785,g1000:0.8257,GnomAD_AC_genome:24541,GnomAD_AN_genome:30930,GnomAD:0.7934;SGVEP=ANO10|-|NM_001204831|3|c.140-53G>T|.|intronic GT:DP:AD:DP4 0/1:20:13,7:6,7,3,4 3 43756577 99646290 C CTG 303 off_target VARTYPE=1;BGN=0.000976189;ARL=226;DER=38;DEA=100;QR=32;QA=75;PBP=179;PBM=131;TYPE=INDEL;DBXREF=dbSNP:rs10662733,g1000:0.4239,GnomAD_AC_genome:13510,GnomAD_AN_genome:27356,GnomAD:0.4939;SGVEP=ABHD5|+|NM_016006|5|c.773+61_773+62dup|.|intronic GT:DP:AD:DP4 0/1:49:32,14:16,16,8,6 3 45067751 100167570 G A 195 off_target VARTYPE=1;BGN=0.00168734;ARL=243;DER=30;DEA=15;QR=35;QA=35;PBP=134;PBM=66;SP=0;TYPE=SNP;DBXREF=dbSNP:rs116440682,g1000:0.0070,GnomAD_AC_genome:385,GnomAD_AN_genome:30930,GnomAD:0.0124;SGVEP=CLEC3B|+|NM_001308394|1|.|.|intergenic GT:DP:AD:DP4 0/1:21:12,9:7,5,6,3 3 45068074 100167978 A G 190 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=282;DER=59;DEA=83;QR=37;QA=36;PBP=99;PBM=96;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2301282,g1000:0.6066,GnomAD_AC_genome:14638,GnomAD_AN_genome:30894,GnomAD:0.4738;SGVEP=CLEC3B|+|NM_003278|1|c.109+111A>G|.|intronic GT:DP:AD:DP4 0/1:15:7,8:3,4,4,4 3 45072535 100169572 G A 126 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=268;DER=35;DEA=41;QR=37;QA=38;PBP=52;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2139538,g1000:0.6068,GnomAD_AC_genome:14631,GnomAD_AN_genome:30870,GnomAD:0.4740;SGVEP=CLEC3B|+|NM_001308394|2|c.82+118G>A|.|intronic GT:DP:AD:DP4 0/1:10:5,5:2,3,2,3 3 45077123 100171256 G A 1176 PASS VARTYPE=1;BGN=0.00140598;ARL=229;DER=120;DEA=100;QR=36;QA=36;PBP=645;PBM=543;TYPE=SNP;DBXREF=dbSNP:rs13963,g1000:0.5635,esp5400:0.3989,ExAC:0.4840,PhyloP:0.1210,SIFT:0.3360,PolyPhen2:0.1010,PolyPhen2_HumDiv:0.0990,LRT:0.9990,MutationTaster:1.0000,GERP:-0.0541,GnomAD_AC_exome:119446,GnomAD_AN_exome:245606,GnomAD_AC_genome:13471,GnomAD_AN_genome:30884,GnomAD:0.4807;SGVEP=CLEC3B|+|NM_001308394|3|c.190G>A|p.(Gly64Ser)|missense GT:DP:AD:DP4 0/1:125:71,54:35,36,29,25 3 45077458 100171725 G A 518 off_target VARTYPE=1;BGN=0.00243023;ARL=217;DER=51;DEA=47;QR=35;QA=33;PBP=256;PBM=270;TYPE=SNP;DBXREF=dbSNP:rs8318,g1000:0.5938,esp5400:0.3819,ExAC:0.4710,GnomAD_AC_exome:78925,GnomAD_AN_exome:145570,GnomAD_AC_genome:14154,GnomAD_AN_genome:30758,GnomAD:0.5279;SGVEP=CLEC3B|+|NM_001308394|3|c.*42G>A|.|3'UTR GT:DP:AD:DP4 0/1:48:23,25:10,13,12,13 3 45813025 100455355 A G 765 off_target VARTYPE=1;BGN=0.00140598;ARL=234;DER=74;DEA=42;QR=37;QA=36;PBP=358;PBM=413;TYPE=SNP;DBXREF=dbSNP:rs758387,g1000:0.4285,GnomAD_AC_genome:15637,GnomAD_AN_genome:30854,GnomAD:0.5068;SGVEP=SLC6A20|-|NM_020208|6|c.694-75T>C|.|intronic GT:DP:AD:DP4 0/1:40:10,30:5,5,14,16 3 45817418 100456848 A G 1010 PASS VARTYPE=1;BGN=0.00140598;ARL=220;DER=75;DEA=65;QR=37;QA=36;PBP=486;PBM=534;TYPE=SNP;DBXREF=dbSNP:rs758386,g1000:0.9489,esp5400:0.9611,ExAC:0.9560,clinvar:rs758386,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:235580,GnomAD_AN_exome:246232,GnomAD_AC_genome:29614,GnomAD_AN_genome:30952,GnomAD:0.9567;SGVEP=SLC6A20|-|NM_020208|4|c.417T>C|p.(Cys139:)|synonymous GT:DP:AD:DP4 0/1:128:80,48:40,40,23,25 3 45821624 100458271 T C 298 off_target VARTYPE=1;BGN=0.002025;ARL=242;DER=47;DEA=52;QR=34;QA=34;PBP=156;PBM=148;TYPE=SNP;DBXREF=dbSNP:rs2252547,g1000:0.5180,esp5400:0.5572,ExAC:0.4920,GnomAD_AC_exome:90314,GnomAD_AN_exome:158312,GnomAD_AC_genome:17086,GnomAD_AN_genome:30860,GnomAD:0.5677;SGVEP=SLC6A20|-|NM_020208|3|c.263-32A>G|.|intronic GT:DP:AD:DP4 0/1:29:15,14:6,9,7,7 3 45837886 100459508 G C 1984 PASS VARTYPE=1;BGN=0.00140598;ARL=224;DER=88;DEA=90;QR=35;QA=36;PBP=1001;PBM=998;TYPE=SNP;DBXREF=dbSNP:rs2271615,g1000:0.0885,esp5400:0.1088,ExAC:0.1240,PhyloP:0.3630,SIFT:0.8950,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.4290,MutationTaster:0.0000,GERP:1.2000,clinvar:rs2271615,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:29261,GnomAD_AN_exome:243260,GnomAD_AC_genome:2856,GnomAD_AN_genome:30600,GnomAD:0.1173;SGVEP=SLC6A20|-|NM_020208|1|c.26C>G|p.(Ala9Gly)|missense GT:DP:AD:DP4 0/1:175:87,88:43,44,44,44 3 45977866 100490161 C T 253 off_target VARTYPE=1;BGN=0.00168734;ARL=258;DER=37;DEA=32;QR=34;QA=35;PBP=165;PBM=92;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4535265,g1000:0.3798,GnomAD_AC_genome:10349,GnomAD_AN_genome:30870,GnomAD:0.3352;SGVEP=FYCO1|-|NM_024513|15|c.4040+74G>A|.|intronic GT:DP:AD:DP4 0/1:20:9,11:5,4,7,4 3 45977899 100490176 T C 661 off_target VARTYPE=1;BGN=0.000976189;ARL=257;DEA=66;QA=38;PBP=361;PBM=301;TYPE=SNP;DBXREF=dbSNP:rs1873002,g1000:1.0000,esp5400:0.9998,ExAC:1.0000,GnomAD_AC_exome:245336,GnomAD_AN_exome:245384,GnomAD_AC_genome:30945,GnomAD_AN_genome:30952,GnomAD:0.9998;SGVEP=FYCO1|-|NM_024513|15|c.4040+41A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,12,10 3 45996761 100507160 G A 1012 PASS VARTYPE=1;BGN=0.00117154;ARL=219;DER=73;DEA=64;QR=37;QA=37;PBP=512;PBM=510;TYPE=SNP;DBXREF=dbSNP:rs1463680,g1000:0.8672,esp5400:0.7729,ExAC:0.7920,PhyloP:-0.7770,MutationTaster:1.0000,GERP:-5.9700,clinvar:rs1463680,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:194906,GnomAD_AN_exome:246258,GnomAD_AC_genome:24144,GnomAD_AN_genome:30946,GnomAD:0.7902;SGVEP=FYCO1|-|NM_024513|14|c.3924C>T|p.(Leu1308:)|synonymous GT:DP:AD:DP4 0/1:95:51,44:25,26,22,22 3 46001063 100507478 G A 262 off_target VARTYPE=1;BGN=0.00117154;ARL=252;DER=77;DEA=75;QR=37;QA=37;PBP=110;PBM=158;TYPE=SNP;DBXREF=dbSNP:rs1532071,g1000:0.5339,esp5400:0.4391,ExAC:0.5510,GnomAD_AC_exome:137043,GnomAD_AN_exome:243698,GnomAD_AC_genome:14252,GnomAD_AN_genome:30928,GnomAD:0.5509;SGVEP=FYCO1|-|NM_024513|12|c.3438-29C>T|.|intronic GT:DP:AD:DP4 0/1:35:23,12:11,12,5,7 3 46007702 100507847 T C 217 off_target VARTYPE=1;BGN=0.002025;ARL=239;DER=40;DEA=45;QR=35;QA=34;PBP=108;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs1994490,g1000:0.5329,GnomAD_AC_genome:14541,GnomAD_AN_genome:30906,GnomAD:0.4705;SGVEP=FYCO1|-|NM_024513|8|c.3057+67A>G|.|intronic GT:DP:AD:DP4 0/1:20:10,10:6,4,5,5 3 46008790 100508104 G A 1398 PASS VARTYPE=1;BGN=0.00140598;ARL=222;DER=102;DEA=100;QR=37;QA=36;PBP=684;PBM=726;TYPE=SNP;DBXREF=dbSNP:rs3796375,g1000:0.3952,esp5400:0.3322,ExAC:0.4290,PhyloP:1.3310,SIFT:0.8500,PolyPhen2:0.4100,PolyPhen2_HumDiv:0.9870,LRT:1.0000,MutationTaster:1.0000,GERP:3.5500,clinvar:rs3796375,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:108905,GnomAD_AN_exome:245796,GnomAD_AC_genome:11048,GnomAD_AN_genome:30804,GnomAD:0.4337;SGVEP=FYCO1|-|NM_024513|8|c.2036C>T|p.(Ala679Val)|missense GT:DP:AD:DP4 0/1:125:63,62:30,33,30,32 3 46009864 100508493 C G 1377 PASS VARTYPE=1;BGN=0.00117154;ARL=227;DER=100;DEA=116;QR=37;QA=37;PBP=673;PBM=716;TYPE=SNP;DBXREF=dbSNP:rs3733100,g1000:0.5329,esp5400:0.4418,ExAC:0.5660,PhyloP:0.7500,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:3.8400,clinvar:rs3733100,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:142060,GnomAD_AN_exome:245734,GnomAD_AC_genome:14512,GnomAD_AN_genome:30882,GnomAD:0.5660;SGVEP=FYCO1|-|NM_024513|8|c.962G>C|p.(Gly321Ala)|missense GT:DP:AD:DP4 0/1:129:69,60:33,36,29,31 3 46010077 100508553 C T 1204 PASS VARTYPE=1;BGN=0.00117154;ARL=211;DER=73;DEA=79;QR=37;QA=37;PBP=611;PBM=604;TYPE=SNP;DBXREF=dbSNP:rs4683158,g1000:0.9281,esp5400:0.8347,ExAC:0.8470,PhyloP:0.9020,SIFT:0.6720,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.4500,clinvar:rs4683158,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:208265,GnomAD_AN_exome:246092,GnomAD_AC_genome:25987,GnomAD_AN_genome:30952,GnomAD:0.8455;SGVEP=FYCO1|-|NM_024513|8|c.749G>A|p.(Arg250Gln)|missense GT:DP:AD:DP4 0/1:131:77,54:37,40,27,27 3 46016599 100509474 T G 112 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=270;DER=31;DEA=25;QR=36;QA=37;PBP=70;PBM=45;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3821884,g1000:0.6272,GnomAD_AC_genome:17172,GnomAD_AN_genome:30850,GnomAD:0.5566;SGVEP=FYCO1|-|NM_024513|5|c.395+132A>C|.|intronic GT:DP:AD:DP4 0/1:15:10,5:5,5,3,2 3 46016851 100509581 A T 1015 off_target VARTYPE=1;BGN=0.00117154;ARL=229;DER=66;DEA=74;QR=35;QA=37;PBP=521;PBM=504;TYPE=SNP;DBXREF=dbSNP:rs751552,g1000:0.3870,esp5400:0.3265,ExAC:0.4270,clinvar:rs751552,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:108448,GnomAD_AN_exome:245542,GnomAD_AC_genome:10960,GnomAD_AN_genome:30918,GnomAD:0.4319;SGVEP=FYCO1|-|NM_024513|5|c.289-14T>A|.|intronic GT:DP:AD:DP4 0/1:75:33,42:14,19,21,21 3 46016944 100509619 C T 188 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=250;DER=20;DEA=38;QR=35;QA=37;PBP=96;PBM=96;SP=0;TYPE=SNP;DBXREF=dbSNP:rs751553,g1000:0.3868,GnomAD_AC_genome:10953,GnomAD_AN_genome:30918,GnomAD:0.3543;SGVEP=FYCO1|-|NM_024513|5|c.289-107G>A|.|intronic GT:DP:AD:DP4 0/1:18:10,8:5,5,4,4 3 46021218 100510222 G T 1151 PASS VARTYPE=1;BGN=0.00117154;ARL=217;DER=64;DEA=63;QR=37;QA=37;PBP=604;PBM=558;TYPE=SNP;DBXREF=dbSNP:rs4682801,g1000:0.7630,esp5400:0.6563,ExAC:0.7990,clinvar:rs4682801,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:199103,GnomAD_AN_exome:246272,GnomAD_AC_genome:21330,GnomAD_AN_genome:30924,GnomAD:0.7952;SGVEP=FYCO1|-|NM_024513|4|c.267C>A|p.(Arg89:)|synonymous GT:DP:AD:DP4 0/1:130:78,52:40,38,27,25 3 46026259 100511037 G A 176 off_target VARTYPE=1;BGN=0.002025;ARL=236;DER=51;DEA=53;QR=35;QA=34;PBP=100;PBM=81;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3733097,g1000:0.3868,GnomAD_AC_genome:10867,GnomAD_AN_genome:30892,GnomAD:0.3518;SGVEP=FYCO1|-|NM_024513|2|c.55+89C>T|.|intronic GT:DP:AD:DP4 0/1:27:18,9:10,8,5,4 3 46307473 100631998 G A 981 PASS VARTYPE=1;BGN=0.00117154;ARL=234;DER=114;DEA=115;QR=36;QA=37;PBP=497;PBM=493;TYPE=SNP;DBXREF=dbSNP:rs41409552,g1000:0.0032,esp5400:0.0118,ExAC:0.0110,PhyloP:-0.7590,SIFT:0.4900,PolyPhen2:0.0110,PolyPhen2_HumDiv:0.0160,LRT:0.0590,MutationTaster:0.0000,GERP:-4.1600,GnomAD_AC_exome:2556,GnomAD_AN_exome:245440,GnomAD_AC_genome:346,GnomAD_AN_genome:30964,GnomAD:0.0105;SGVEP=CCR3|+|NM_001164680|3|c.878G>A|p.(Arg293Gln)|missense GT:DP:AD:DP4 0/1:108:64,44:31,33,22,22 3 46414557 100679188 T A 1254 PASS VARTYPE=1;BGN=0.00117154;ARL=223;DER=113;DEA=88;QR=38;QA=37;PBP=634;PBM=632;TYPE=SNP;DBXREF=dbSNP:rs1799863,g1000:0.0092,esp5400:0.0178,ExAC:0.0130,PhyloP:2.0440,SIFT:1.0000,PolyPhen2:0.9990,PolyPhen2_HumDiv:1.0000,LRT:0.9990,MutationTaster:0.9940,GERP:5.4200,GnomAD_AC_exome:3296,GnomAD_AN_exome:246190,GnomAD_AC_genome:354,GnomAD_AN_genome:30976,GnomAD:0.0132;SGVEP=CCR5|+|NM_000579|3|c.164T>A|p.(Leu55Gln)|missense GT:DP:AD:DP4 0/1:133:77,56:38,39,28,28 3 46713457 100794574 C G 1371 PASS VARTYPE=1;BGN=0.00117154;ARL=220;DER=93;DEA=102;QR=36;QA=37;PBP=686;PBM=698;TYPE=SNP;DBXREF=dbSNP:rs7625303,g1000:0.2504,esp5400:0.1991,ExAC:0.2360,GnomAD_AC_exome:58848,GnomAD_AN_exome:245990,GnomAD_AC_genome:6288,GnomAD_AN_genome:30834,GnomAD:0.2353;SGVEP=ALS2CL|-|NM_001190707|24|c.2601G>C|p.(Thr867:)|synonymous GT:DP:AD:DP4 0/1:167:102,63:48,54,31,32 3 46713764 100795222 G A 329 off_target VARTYPE=1;BGN=0.00140598;ARL=262;DER=43;DEA=76;QR=36;QA=36;PBP=116;PBM=220;TYPE=SNP;DBXREF=dbSNP:rs61277784,g1000:0.2382,GnomAD_AC_genome:6328,GnomAD_AN_genome:30864,GnomAD:0.2050;SGVEP=ALS2CL|-|NM_001190707|23|c.2473-73C>T|.|intronic GT:DP:AD:DP4 0/1:26:12,14:6,6,5,9 3 46717931 100798816 T C 285 off_target VARTYPE=1;BGN=0.00140598;ARL=234;DER=61;DEA=70;QR=36;QA=36;PBP=147;PBM=144;TYPE=SNP;DBXREF=dbSNP:rs6808525,g1000:0.7827,esp5400:0.7683,ExAC:0.7700,GnomAD_AC_exome:188630,GnomAD_AN_exome:244504,GnomAD_AC_genome:23586,GnomAD_AN_genome:30830,GnomAD:0.7708;SGVEP=ALS2CL|-|NM_001190707|19|c.2029-39A>G|.|intronic GT:DP:AD:DP4 0/1:46:32,14:15,17,7,7 3 46717957 100798869 A G 275 off_target VARTYPE=1;BGN=0.00168734;ARL=235;DER=57;DEA=55;QR=37;QA=35;PBP=129;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs9876451,g1000:0.7382,GnomAD_AC_genome:22347,GnomAD_AN_genome:30830,GnomAD:0.7248;SGVEP=ALS2CL|-|NM_001190707|19|c.2029-65T>C|.|intronic GT:DP:AD:DP4 0/1:32:19,13:9,10,6,7 3 46718298 100799594 A G 1094 off_target VARTYPE=1;BGN=0.00168734;ARL=246;DER=110;DEA=93;QR=30;QA=35;PBP=554;PBM=549;TYPE=SNP;DBXREF=dbSNP:rs6806400,g1000:0.8213,esp5400:0.8151,ExAC:0.7920,GnomAD_AC_exome:192458,GnomAD_AN_exome:242180,GnomAD_AC_genome:24406,GnomAD_AN_genome:29804,GnomAD:0.7973;SGVEP=ALS2CL|-|NM_001190707|17|c.1931+41T>C|.|intronic GT:DP:AD:DP4 1/1:52:9,43:6,3,22,21 3 46722692 100804213 G T 882 off_target VARTYPE=1;BGN=0.00140598;ARL=241;DER=46;DEA=53;QR=35;QA=36;PBP=509;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs13080080,g1000:0.6488,esp5400:0.6364,ExAC:0.6670,GnomAD_AC_exome:164104,GnomAD_AN_exome:243620,GnomAD_AC_genome:19625,GnomAD_AN_genome:30756,GnomAD:0.6696;SGVEP=ALS2CL|-|NM_001190707|13|c.1436+44C>A|.|intronic GT:DP:AD:DP4 0/1:62:25,37:13,12,21,16 3 46728659 100830913 G A 886 off_target VARTYPE=1;BGN=0.00117154;ARL=206;DER=53;DEA=55;QR=35;QA=37;PBP=386;PBM=510;TYPE=SNP;DBXREF=dbSNP:rs7633016,g1000:0.4565,esp5400:0.4338,ExAC:0.3270,GnomAD_AC_exome:53057,GnomAD_AN_exome:143068,GnomAD_AC_genome:12751,GnomAD_AN_genome:30750,GnomAD:0.3786;SGVEP=ALS2CL|-|NM_001190707|5|c.369-21C>T|.|intronic GT:DP:AD:DP4 0/1:89:50,39:24,26,17,22 3 46729757 100832032 C G 523 PASS VARTYPE=1;BGN=0.00117154;ARL=226;DER=96;DEA=60;QR=38;QA=37;PBP=251;PBM=279;TYPE=SNP;DBXREF=dbSNP:rs7642448,g1000:0.4485,esp5400:0.4267,ExAC:0.3610,PhyloP:2.4130,SIFT:0.6670,PolyPhen2:0.6900,PolyPhen2_HumDiv:0.9880,LRT:0.9990,MutationTaster:1.0000,GERP:4.3600,GnomAD_AC_exome:87182,GnomAD_AN_exome:244648,GnomAD_AC_genome:12527,GnomAD_AN_genome:30804,GnomAD:0.3620;SGVEP=ALS2CL|-|NM_001190707|3|c.133G>C|p.(Glu45Gln)|missense GT:DP:AD:DP4 0/1:54:31,23:16,15,11,12 3 46730749 100832692 A G 329 off_target VARTYPE=1;BGN=0.00140598;ARL=262;DER=53;DEA=67;QR=37;QA=36;PBP=190;PBM=144;TYPE=SNP;DBXREF=dbSNP:rs4076927,g1000:0.4589,GnomAD_AC_genome:12815,GnomAD_AN_genome:30906,GnomAD:0.4146;SGVEP=ALS2CL|-|NM_001190707|2|c.103+79T>C|.|intronic GT:DP:AD:DP4 0/1:26:12,14:7,5,8,6 3 46747178 647953407 T C 332 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=258;DER=20;DEA=52;QR=31;QA=37;PBP=167;PBM=167;TYPE=SNP;DBXREF=dbSNP:rs1051553580,GnomAD_AC_genome:4,GnomAD_AN_genome:30950,GnomAD:0.0001;SGVEP=TMIE|+|NM_147196|2|c.94-102T>C|.|intronic GT:DP:AD:DP4 1/1:14:2,12:1,1,6,6 3 46750553 100842379 G A 404 off_target VARTYPE=1;BGN=0.00140598;ARL=253;DER=55;DEA=68;QR=38;QA=36;PBP=242;PBM=167;TYPE=SNP;DBXREF=dbSNP:rs11130106,g1000:0.3684,GnomAD_AC_genome:13859,GnomAD_AN_genome:30870,GnomAD:0.4489;SGVEP=TMIE|+|NM_147196|3|c.212-63G>A|.|intronic GT:DP:AD:DP4 0/1:30:13,17:7,6,10,7 3 46751073 75579 TAAG T 503 PASS VARTYPE=1;BGN=0.000976189;ARL=210;DER=8;DEA=68;QR=36;QA=113;PBP=247;PBM=261;TYPE=INDEL;DBXREF=dbSNP:rs10578999,g1000:0.7532,ExAC:0.6240,clinvar:rs10578999,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:89327,GnomAD_AN_exome:145330,GnomAD_AC_genome:21346,GnomAD_AN_genome:28908,GnomAD:0.6352;SGVEP=TMIE|+|NM_147196|4|c.391_393del|p.(Lys131del)|inframe_3 GT:DP:AD:DP4 1/1:22:2,18:2,0,9,9 3 46943028 100930753 T C 413 off_target VARTYPE=1;BGN=0.00140598;ARL=231;DER=71;DEA=56;QR=35;QA=36;PBP=235;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs1531137,g1000:0.4601,esp5400:0.5269,GnomAD_AC_genome:15232,GnomAD_AN_genome:30750,GnomAD:0.4953;SGVEP=PTH1R|+|NM_000316|12|c.1116+58T>C|.|intronic GT:DP:AD:DP4 0/1:36:18,18:9,9,10,8 3 46944274 100931058 T C 331 PASS VARTYPE=1;BGN=0.00117154;ARL=224;DER=96;DEA=97;QR=35;QA=37;PBP=168;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs1138518,g1000:0.6434,esp5400:0.6774,ExAC:0.6140,clinvar:rs1138518,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:148399,GnomAD_AN_exome:244116,GnomAD_AC_genome:20427,GnomAD_AN_genome:30842,GnomAD:0.6140;SGVEP=PTH1R|+|NM_000316|15|c.1389T>C|p.(Asn463:)|synonymous GT:DP:AD:DP4 0/1:57:41,16:21,20,8,8 3 47021509 100944229 CGCGCGCGCGG C 283 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=253;DER=76;DEA=61;QR=35;QA=339;PBP=113;PBM=172;TYPE=INDEL;DBXREF=dbSNP:rs113932344,g1000:0.9409,GnomAD_AC_genome:26325,GnomAD_AN_genome:28084,GnomAD:0.9374;SGVEP=NBEAL2|+|NM_015175|1|c.51+117_51+126del|.|intronic GT:DP:AD:DP4 1/1:12:2,10:1,1,4,6 3 47033937 100948060 C T 430 off_target VARTYPE=1;BGN=0.00140598;ARL=238;DER=80;DEA=77;QR=35;QA=36;PBP=190;PBM=246;TYPE=SNP;DBXREF=dbSNP:rs13066214,g1000:0.4722,esp5400:0.4626,ExAC:0.5080,clinvar:rs13066214,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:112142,GnomAD_AN_exome:207800,GnomAD_AC_genome:15248,GnomAD_AN_genome:30790,GnomAD:0.5339;SGVEP=NBEAL2|+|NM_015175|10|c.1033-28C>T|.|intronic GT:DP:AD:DP4 0/1:31:13,18:7,6,8,10 3 47035625 100948745 G A 351 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=276;DEA=50;QA=37;PBP=147;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs936185,g1000:0.9700,GnomAD_AC_genome:30165,GnomAD_AN_genome:30922,GnomAD:0.9755;SGVEP=NBEAL2|+|NM_015175|11|c.1197+115G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,5,7 3 47035900 100948832 C T 324 off_target VARTYPE=1;BGN=0.000976189;ARL=251;DER=77;DEA=86;QR=35;QA=38;PBP=175;PBM=154;TYPE=SNP;DBXREF=dbSNP:rs749512,g1000:0.3059,esp5400:0.3135,ExAC:0.2600,clinvar:rs749512,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:53147,GnomAD_AN_exome:155844,GnomAD_AC_genome:9908,GnomAD_AN_genome:30900,GnomAD:0.3377;SGVEP=NBEAL2|+|NM_015175|12|c.1198-45C>T|.|intronic GT:DP:AD:DP4 0/1:25:12,13:7,5,7,6 3 47036756 100949431 C G 1171 PASS VARTYPE=1;BGN=0.00140598;ARL=238;DER=117;DEA=114;QR=36;QA=36;PBP=552;PBM=630;TYPE=SNP;DBXREF=dbSNP:rs11720139,g1000:0.3167,esp5400:0.3036,ExAC:0.2800,PhyloP:2.5060,SIFT:0.7050,PolyPhen2:0.0660,PolyPhen2_HumDiv:0.3210,LRT:0.9960,MutationTaster:1.0000,GERP:4.5400,clinvar:rs11720139,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:57670,GnomAD_AN_exome:160270,GnomAD_AC_genome:10468,GnomAD_AN_genome:30862,GnomAD:0.3565;SGVEP=NBEAL2|+|NM_015175|13|c.1531C>G|p.(Arg511Gly)|missense GT:DP:AD:DP4 0/1:139:84,55:43,41,26,29 3 47038135 100951124 C CA 1150 off_target VARTYPE=1;BGN=0.00140598;ARL=260;DER=0;DEA=98;QR=37;QA=36;PBP=585;PBM=570;TYPE=INDEL;DBXREF=dbSNP:rs11396344,g1000:0.9503,GnomAD_AC_genome:29427,GnomAD_AN_genome:30882,GnomAD:0.9529;SGVEP=NBEAL2|+|NM_015175|16|c.2473+53_2473+54insA|.|intronic GT:DP:AD:DP4 1/1:42:1,41:1,0,21,20 3 47043386 100957008 C T 1666 off_target VARTYPE=1;BGN=0.00117154;ARL=232;DER=97;DEA=99;QR=35;QA=37;PBP=826;PBM=853;TYPE=SNP;DBXREF=dbSNP:rs73075647,g1000:0.1068,esp5400:0.1806,ExAC:0.1560,clinvar:rs73075647,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:37370,GnomAD_AN_exome:244284,GnomAD_AC_genome:5323,GnomAD_AN_genome:30848,GnomAD:0.1552;SGVEP=NBEAL2|+|NM_015175|31|c.4783-24C>T|.|intronic GT:DP:AD:DP4 0/1:139:68,71:34,34,35,36 3 47043538 100957258 C T 1611 PASS VARTYPE=1;BGN=0.00117154;ARL=225;DER=110;DEA=89;QR=37;QA=37;PBP=783;PBM=841;TYPE=SNP;DBXREF=dbSNP:rs2305634,g1000:0.4716,esp5400:0.4491,ExAC:0.4570,PhyloP:-1.0800,MutationTaster:0.0000,GERP:-5.5700,clinvar:rs2305634,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:85397,GnomAD_AN_exome:156970,GnomAD_AC_genome:15279,GnomAD_AN_genome:30838,GnomAD:0.5361;SGVEP=NBEAL2|+|NM_015175|31|c.4911C>T|p.(Ser1637:)|synonymous GT:DP:AD:DP4 0/1:148:78,70:40,38,34,36 3 47043622 100957413 G A 1972 PASS VARTYPE=1;BGN=0.00117154;ARL=230;DER=100;DEA=108;QR=36;QA=37;PBP=1010;PBM=976;TYPE=SNP;DBXREF=dbSNP:rs2305635,g1000:0.3201,esp5400:0.3298,ExAC:0.2420,PhyloP:0.1680,MutationTaster:1.0000,GERP:1.7100,clinvar:rs2305635,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:53382,GnomAD_AN_exome:147122,GnomAD_AC_genome:10537,GnomAD_AN_genome:30838,GnomAD:0.3592;SGVEP=NBEAL2|+|NM_015175|31|c.4995G>A|p.(Val1665:)|synonymous GT:DP:AD:DP4 0/1:137:56,81:27,29,41,40 3 47044122 100958037 A T 2385 off_target VARTYPE=1;BGN=0.00140598;ARL=221;DEA=74;QA=36;PBP=1280;PBM=1110;TYPE=SNP;DBXREF=dbSNP:rs11928558,g1000:0.9493,esp5400:0.9503,ExAC:0.9840,clinvar:rs11928558,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:229462,GnomAD_AN_exome:232132,GnomAD_AC_genome:29439,GnomAD_AN_genome:30914,GnomAD:0.9842;SGVEP=NBEAL2|+|NM_015175|33|c.5302-13A>T|.|intronic GT:DP:AD:DP4 1/1:84:0,84:0,0,45,39 3 47045739 100959748 C G 1271 PASS VARTYPE=1;BGN=0.00140598;ARL=228;DER=76;DEA=92;QR=37;QA=36;PBP=641;PBM=641;TYPE=SNP;DBXREF=dbSNP:rs1079276,g1000:0.4720,esp5400:0.4709,ExAC:0.5360,PhyloP:1.2420,SIFT:0.9830,LRT:0.7220,MutationTaster:0.0000,GERP:3.5400,clinvar:rs1079276,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:133041,GnomAD_AN_exome:246098,GnomAD_AC_genome:15228,GnomAD_AN_genome:30764,GnomAD:0.5355;SGVEP=NBEAL2|+|NM_015175|37|c.6054C>G|p.(Pro2018:)|synonymous GT:DP:AD:DP4 0/1:154:94,60:47,47,30,30 3 47045846 100959938 C T 729 PASS VARTYPE=1;BGN=0.00140598;ARL=240;DER=97;DEA=88;QR=36;QA=36;PBP=357;PBM=380;TYPE=SNP;DBXREF=dbSNP:rs2305637,g1000:0.1266,esp5400:0.1281,ExAC:0.1510,PhyloP:2.6060,SIFT:1.0000,PolyPhen2:0.9980,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:4.9800,clinvar:rs2305637,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:36617,GnomAD_AN_exome:236620,GnomAD_AC_genome:4464,GnomAD_AN_genome:30776,GnomAD:0.1536;SGVEP=NBEAL2|+|NM_015175|37|c.6161C>T|p.(Ser2054Phe)|missense GT:DP:AD:DP4 0/1:74:41,33:20,21,16,17 3 47046842 100960988 G C 1191 off_target VARTYPE=1;BGN=0.00117154;ARL=230;DER=84;DEA=77;QR=36;QA=37;PBP=591;PBM=611;TYPE=SNP;DBXREF=dbSNP:rs2305638,g1000:0.5465,esp5400:0.5606,ExAC:0.5370,clinvar:rs2305638,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:121984,GnomAD_AN_exome:219736,GnomAD_AC_genome:17244,GnomAD_AN_genome:30848,GnomAD:0.5556;SGVEP=NBEAL2|+|NM_015175|40|c.6560+31G>C|.|intronic GT:DP:AD:DP4 0/1:103:52,51:25,27,25,26 3 47047176 100961310 AGGGGG AGGGGGG 284 off_target VARTYPE=1;BGN=0.0254616;ARL=243;DER=95;DEA=79;QR=36;QA=38;HL=5;PBP=152;PBM=140;TYPE=INDEL;DBXREF=dbSNP:rs750620854,g1000:0.5533,clinvar:rs750620854,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:17412,GnomAD_AN_genome:30812,GnomAD:0.5651;SGVEP=NBEAL2|+|NM_015175|42|c.6692-47dupG|.|intronic GT:DP:AD:DP4 0/1:91:58,32:30,28,16,16 3 47048452 100962428 T G 106 low_coverage;off_target VARTYPE=1;BGN=0.002025;ARL=279;DER=71;DEA=50;QR=35;QA=34;PBP=65;PBM=44;SP=0;TYPE=SNP;DBXREF=dbSNP:rs56217494,g1000:0.3233,GnomAD_AC_genome:10689,GnomAD_AN_genome:30854,GnomAD:0.3464;SGVEP=NBEAL2|+|NM_015175|46|c.7135-104T>G|.|intronic GT:DP:AD:DP4 0/1:12:7,5:4,3,3,2 3 47050908 100994780 AGGGGGG AGGGGG 252 off_target VARTYPE=1;BGN=0.0346391;ARL=262;DER=12;DEA=49;QR=30;QA=36;HL=6;PBP=93;PBM=163;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs397708574,g1000:0.4643,ExAC:0.3880,clinvar:rs397708574,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:45662,GnomAD_AN_exome:87794,GnomAD_AC_genome:14787,GnomAD_AN_genome:30534,GnomAD:0.5109;SGVEP=NBEAL2|+|NM_015175|54|c.*104del|.|3'UTR GT:DP:AD:DP4 1/1:24:4,20:1,3,7,13 3 47059323 100998426 C T 451 off_target VARTYPE=1;BGN=0.00117154;ARL=256;DER=46;DEA=49;QR=36;QA=37;PBP=220;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs2385867,g1000:0.5519,GnomAD_AC_genome:17312,GnomAD_AN_genome:30850,GnomAD:0.5612;SGVEP=SETD2|-|NM_014159|20|c.7432-94G>A|.|intronic GT:DP:AD:DP4 0/1:38:19,19:8,11,9,10 3 47061183 100999225 G A 638 off_target VARTYPE=1;BGN=0.00117154;ARL=256;DER=57;DEA=58;QR=33;QA=37;PBP=347;PBM=297;TYPE=SNP;DBXREF=dbSNP:rs2290547,g1000:0.1234,GnomAD_AC_genome:4420,GnomAD_AN_genome:30934,GnomAD:0.1429;SGVEP=SETD2|-|NM_014159|19|c.7431+67C>T|.|intronic GT:DP:AD:DP4 1/1:31:7,24:4,3,13,11 3 47079112 101005474 G A 950 off_target VARTYPE=1;BGN=0.00117154;ARL=236;DER=72;DEA=69;QR=38;QA=37;PBP=479;PBM=479;TYPE=SNP;DBXREF=dbSNP:rs6768722,g1000:0.6775,esp5400:0.6443,ExAC:0.6310,GnomAD_AC_exome:155342,GnomAD_AN_exome:244514,GnomAD_AC_genome:20214,GnomAD_AN_genome:30880,GnomAD:0.6375;SGVEP=SETD2|-|NM_014159|18|c.7350+44C>T|.|intronic GT:DP:AD:DP4 0/1:60:22,38:11,11,19,19 3 47125385 75692 G A 971 PASS VARTYPE=1;BGN=0.00168734;ARL=232;DER=80;DEA=107;QR=36;QA=35;PBP=528;PBM=452;TYPE=SNP;DBXREF=dbSNP:rs4082155,g1000:0.4698,esp5400:0.4705,ExAC:0.5340,PhyloP:0.3330,SIFT:0.6910,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0010,LRT:0.6730,MutationTaster:0.9100,GERP:2.9400,clinvar:rs4082155,CLNSIG:not_provided,CLNREVSTAT:no_assertion_provided,GnomAD_AC_exome:132662,GnomAD_AN_exome:246136,GnomAD_AC_genome:15217,GnomAD_AN_genome:30858,GnomAD:0.5339;SGVEP=SETD2|-|NM_014159|12|c.5885C>T|p.(Pro1962Leu)|missense GT:DP:AD:DP4 0/1:77:33,43:16,17,23,20 3 47162661 101059039 A G 577 PASS VARTYPE=1;BGN=0.00140598;ARL=213;DER=100;DEA=98;QR=36;QA=36;PBP=270;PBM=315;TYPE=SNP;DBXREF=dbSNP:rs6767907,g1000:0.6783,esp5400:0.6455,ExAC:0.6340,GnomAD_AC_exome:156876,GnomAD_AN_exome:246096,GnomAD_AC_genome:20281,GnomAD_AN_genome:30878,GnomAD:0.6396;SGVEP=SETD2|-|NM_014159|3|c.3465T>C|p.(Asn1155:)|synonymous GT:DP:AD:DP4 0/1:58:32,26:15,17,12,14 3 47205502 101082011 CGCGGCGGCG C 216 off_target VARTYPE=1;BGN=0.000976189;ARL=231;DER=14;DEA=101;QR=37;QA=340;PBP=97;PBM=124;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs545985439,g1000:0.8223,GnomAD_AC_genome:18947,GnomAD_AN_genome:28984,GnomAD:0.6537;SGVEP=SETD2|-|NM_014159|1|.|.|intergenic GT:DP:AD:DP4 0/1:21:11,9:6,5,4,5 3 48508000 . T A 1311 PASS VARTYPE=1;BGN=0.00140598;ARL=232;DER=108;DEA=113;QR=33;QA=36;PBP=603;PBM=719;TYPE=SNP;SGVEP=TREX1|+|NM_016381|1|c.111T>A|p.(Thr37:)|synonymous GT:DP:AD:DP4 0/1:107:50,57:23,27,26,31 3 48508585 75757 C T 1410 PASS VARTYPE=1;BGN=0.00140598;ARL=232;DER=107;DEA=99;QR=37;QA=36;PBP=739;PBM=684;TYPE=SNP;DBXREF=dbSNP:rs11797,g1000:0.3133,esp5400:0.3938,ExAC:0.3700,clinvar:rs11797,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:90067,GnomAD_AN_exome:245216,GnomAD_AC_genome:11402,GnomAD_AN_genome:30878,GnomAD:0.3675;SGVEP=TREX1|+|NM_007248|2|c.501C>T|p.(Tyr167:)|synonymous GT:DP:AD:DP4 0/1:163:97,66:47,50,34,32 3 48602523 101720083 G GGGC 854 off_target VARTYPE=1;BGN=0.000976189;ARL=257;DER=7;DEA=115;QR=34;QA=108;PBP=430;PBM=430;TYPE=INDEL;DBXREF=dbSNP:rs138595277,g1000:0.9994,ExAC:1.0000,clinvar:rs138595277,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:245772,GnomAD_AN_exome:245790,GnomAD_AC_genome:30830,GnomAD_AN_genome:30830,GnomAD:0.9999;SGVEP=COL7A1|-|NM_000094|116|c.8620+18_8620+19insGCC|.|intronic GT:DP:AD:DP4 1/1:34:4,30:2,2,15,15 3 48613108 101721739 C A 912 PASS VARTYPE=1;BGN=0.00117154;ARL=207;DER=75;DEA=88;QR=37;QA=37;PBP=461;PBM=461;TYPE=SNP;DBXREF=dbSNP:rs182669506,g1000:0.0006,esp5400:0.0002,ExAC:0.0007,PhyloP:0.5730,SIFT:0.4190,PolyPhen2:0.1590,PolyPhen2_HumDiv:0.0770,LRT:0.6830,MutationTaster:0.0000,GERP:1.7400,clinvar:rs182669506,CLNSIG:Uncertain_significance,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:135,GnomAD_AN_exome:245860,GnomAD_AC_genome:13,GnomAD_AN_genome:30924,GnomAD:0.0005;SGVEP=COL7A1|-|NM_000094|72|c.5930G>T|p.(Arg1977Leu)|missense GT:DP:AD:DP4 0/1:90:50,40:25,25,20,20 3 48618666 101722477 A G 553 off_target VARTYPE=1;BGN=0.00117154;ARL=233;DER=99;DEA=111;QR=36;QA=37;PBP=267;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs1003649,g1000:0.1767,esp5400:0.1514,ExAC:0.0700,GnomAD_AC_exome:15353,GnomAD_AN_exome:241322,GnomAD_AC_genome:4187,GnomAD_AN_genome:30866,GnomAD:0.0718;SGVEP=COL7A1|-|NM_000094|51|c.4899+27T>C|.|intronic GT:DP:AD:DP4 0/1:43:20,23:10,10,11,12 3 48624611 101723471 C T 870 off_target VARTYPE=1;BGN=0.00117154;ARL=238;DER=115;DEA=103;QR=36;QA=37;PBP=491;PBM=389;TYPE=SNP;DBXREF=dbSNP:rs2255532,g1000:0.4305,esp5400:0.4791,ExAC:0.3510,clinvar:rs2255532,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:83180,GnomAD_AN_exome:244452,GnomAD_AC_genome:14322,GnomAD_AN_genome:30772,GnomAD:0.3543;SGVEP=COL7A1|-|NM_000094|23|c.3139+12G>A|.|intronic GT:DP:AD:DP4 0/1:109:69,40:34,35,22,18 3 48625266 101723600 T C 10000 PASS VARTYPE=1;BGN=0.00117154;ARL=221;DEA=96;QA=37;PBP=1810;PBM=1694;TYPE=SNP;DBXREF=dbSNP:rs1264194,g1000:0.6811,esp5400:0.7750,ExAC:0.6780,clinvar:rs1264194,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:165336,GnomAD_AN_exome:245278,GnomAD_AC_genome:22777,GnomAD_AN_genome:30748,GnomAD:0.6815;SGVEP=COL7A1|-|NM_000094|21|c.2817A>G|p.(Pro939:)|synonymous GT:DP:AD:DP4 1/1:120:0,120:0,0,62,58 3 48630625 101764181 C T 1743 PASS VARTYPE=1;BGN=0.00117154;ARL=212;DER=103;DEA=97;QR=36;QA=37;PBP=916;PBM=842;TYPE=SNP;DBXREF=dbSNP:rs147177277,g1000:0.0002,esp5400:0.0009,ExAC:0.0005,PhyloP:0.8040,SIFT:0.8070,PolyPhen2:0.0470,PolyPhen2_HumDiv:0.4280,LRT:0.9350,MutationTaster:0.5100,GERP:2.2400,GnomAD_AC_exome:144,GnomAD_AN_exome:245960,GnomAD_AC_genome:10,GnomAD_AN_genome:30888,GnomAD:0.0006;SGVEP=COL7A1|-|NM_000094|5|c.592G>A|p.(Val198Ile)|missense GT:DP:AD:DP4 0/1:196:114,79:57,57,41,38 3 48897078 75831 A G 702 off_target VARTYPE=1;BGN=0.00117154;ARL=236;DEA=75;QA=37;PBP=322;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs6414612,g1000:0.9952,esp5400:0.9932,ExAC:0.9910,clinvar:rs6414612,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:244049,GnomAD_AN_exome:246078,GnomAD_AC_genome:30834,GnomAD_AN_genome:30980,GnomAD:0.9921;SGVEP=SLC25A20|-|NM_000387|6|c.536-18T>C|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,11,13 3 49063926 101920758 T C 707 off_target VARTYPE=1;BGN=0.00117154;ARL=244;DER=114;DEA=116;QR=36;QA=37;PBP=370;PBM=344;TYPE=SNP;DBXREF=dbSNP:rs72624912,g1000:0.0040,esp5400:0.0042,ExAC:0.0093,GnomAD_AC_exome:2612,GnomAD_AN_exome:246146,GnomAD_AC_genome:297,GnomAD_AN_genome:30954,GnomAD:0.0105;SGVEP=IMPDH2|-|NM_000884|8|c.910+26A>G|.|intronic GT:DP:AD:DP4 0/1:51:22,29:11,11,15,14 3 49161660 101977150 T C 992 PASS VARTYPE=1;BGN=0.00117154;ARL=219;DER=102;DEA=85;QR=36;QA=37;PBP=434;PBM=567;TYPE=SNP;DBXREF=dbSNP:rs34290943,g1000:0.0581,esp5400:0.0951,ExAC:0.1050,clinvar:rs34290943,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:26956,GnomAD_AN_exome:246096,GnomAD_AC_genome:2827,GnomAD_AN_genome:30904,GnomAD:0.1075;SGVEP=LAMB2|-|NM_002292|23|c.3387A>G|p.(Gln1129:)|synonymous GT:DP:AD:DP4 0/1:73:32,41:16,16,18,23 3 49162284 101977697 C T 2600 PASS VARTYPE=1;BGN=0.00117154;ARL=214;DER=101;DEA=96;QR=37;QA=37;PBP=1285;PBM=1336;TYPE=SNP;DBXREF=dbSNP:rs34759087,g1000:0.0593,esp5400:0.0956,ExAC:0.1060,PhyloP:2.6280,SIFT:0.9760,PolyPhen2:0.1920,PolyPhen2_HumDiv:0.7040,LRT:1.0000,MutationTaster:0.9980,GERP:4.6000,clinvar:rs34759087,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:26960,GnomAD_AN_exome:246204,GnomAD_AC_genome:2837,GnomAD_AN_genome:30888,GnomAD:0.1075;SGVEP=LAMB2|-|NM_002292|21|c.2959G>A|p.(Glu987Lys)|missense GT:DP:AD:DP4 0/1:244:130,114:65,65,56,58 3 49166069 101979886 C T 2865 off_target VARTYPE=1;BGN=0.00140598;ARL=246;DER=99;DEA=113;QR=11;QA=36;PBP=1507;PBM=1365;TYPE=SNP;DBXREF=dbSNP:rs9865051,g1000:0.9034,esp5400:0.8086,ExAC:0.8350,GnomAD_AC_exome:206406,GnomAD_AN_exome:246172,GnomAD_AC_genome:25398,GnomAD_AN_genome:30900,GnomAD:0.8366;SGVEP=LAMB2|-|NM_002292|14|c.1890+25G>A|.|intronic GT:DP:AD:DP4 1/1:101:0,101:0,0,53,48 3 49455330 102121330 C T 956 PASS VARTYPE=1;BGN=0.00117154;ARL=215;DER=95;DEA=101;QR=36;QA=37;PBP=521;PBM=445;TYPE=SNP;DBXREF=dbSNP:rs11715915,g1000:0.2013,esp5400:0.2912,ExAC:0.2730,PhyloP:1.0110,MutationTaster:1.0000,GERP:2.7300,clinvar:rs11715915,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:68201,GnomAD_AN_exome:245820,GnomAD_AC_genome:8718,GnomAD_AN_genome:30850,GnomAD:0.2780;SGVEP=AMT|-|NM_000481|8|c.954G>A|p.(Arg318:)|synonymous GT:DP:AD:DP4 0/1:134:89,45:44,45,24,21 3 49463287 102127797 G A 1104 off_target VARTYPE=1;BGN=0.00117154;ARL=232;DER=61;DEA=52;QR=35;QA=37;PBP=583;PBM=530;TYPE=SNP;DBXREF=dbSNP:rs6446272,g1000:0.2177,esp5400:0.3091,ExAC:0.2730,GnomAD_AC_exome:59696,GnomAD_AN_exome:214356,GnomAD_AC_genome:9235,GnomAD_AN_genome:30862,GnomAD:0.2811;SGVEP=NICN1|-|NM_032316|3|c.423+29C>T|.|intronic GT:DP:AD:DP4 0/1:84:38,46:19,19,24,22 3 49463926 102128738 A G 637 off_target VARTYPE=1;BGN=0.00168734;ARL=239;DEA=42;QA=35;PBP=388;PBM=249;TYPE=SNP;DBXREF=dbSNP:rs6762593,g1000:0.9659,GnomAD_AC_genome:29790,GnomAD_AN_genome:30594,GnomAD:0.9737;SGVEP=NICN1|-|NM_032316|2|c.133-65T>C|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,14,9 3 49548008 75907 C G 2478 PASS VARTYPE=1;BGN=0.00117154;ARL=224;DEA=72;QA=37;PBP=1286;PBM=1199;TYPE=SNP;DBXREF=dbSNP:rs2131107,g1000:0.9659,esp5400:0.9722,ExAC:0.9920,PhyloP:0.6970,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9930,MutationTaster:0.0000,GERP:4.6900,clinvar:rs2131107,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:244255,GnomAD_AN_exome:245752,GnomAD_AC_genome:30108,GnomAD_AN_genome:30878,GnomAD:0.9918;SGVEP=DAG1|+|NM_001165928|5|c.41C>G|p.(Ser14Trp)|missense GT:DP:AD:DP4 1/1:85:0,85:0,0,44,41 3 49548294 75912 T C 1752 off_target VARTYPE=1;BGN=0.00117154;ARL=245;DEA=51;QA=37;PBP=819;PBM=936;TYPE=SNP;DBXREF=dbSNP:rs2329024,g1000:0.9659,esp5400:0.9727,ExAC:0.9920,clinvar:rs2329024,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:234134,GnomAD_AN_exome:235546,GnomAD_AC_genome:30187,GnomAD_AN_genome:30960,GnomAD:0.9918;SGVEP=DAG1|+|NM_001165928|5|c.285+42T>C|.|intronic GT:DP:AD:DP4 1/1:60:0,60:0,0,28,32 3 49570200 75929 C T 2251 PASS VARTYPE=1;BGN=0.00117154;ARL=212;DER=96;DEA=100;QR=37;QA=37;PBP=1134;PBM=1134;TYPE=SNP;DBXREF=dbSNP:rs1801143,g1000:0.2159,esp5400:0.3078,ExAC:0.2770,clinvar:rs1801143,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:68592,GnomAD_AN_exome:245102,GnomAD_AC_genome:9184,GnomAD_AN_genome:30868,GnomAD:0.2818;SGVEP=DAG1|+|NM_001165928|6|c.2256C>T|p.(His752:)|synonymous GT:DP:AD:DP4 0/1:168:74,94:37,37,47,47 3 49924940 102388112 T C 1438 PASS VARTYPE=1;BGN=0.00117154;ARL=239;DER=100;DEA=99;QR=37;QA=37;PBP=716;PBM=734;TYPE=SNP;DBXREF=dbSNP:rs1062633,g1000:0.4191,esp5400:0.5611,ExAC:0.4180,PhyloP:-1.3560,SIFT:0.4970,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.8630,MutationTaster:0.0000,GERP:-4.2400,GnomAD_AC_exome:100373,GnomAD_AN_exome:245924,GnomAD_AC_genome:15900,GnomAD_AN_genome:30872,GnomAD:0.4201;SGVEP=MST1R|-|NM_001244937|19|c.3856A>G|p.(Arg1286Gly)|missense GT:DP:AD:DP4 0/1:138:75,63:36,39,31,32 3 49928691 102388408 T C 10000 PASS VARTYPE=1;BGN=0.000976189;ARL=221;DEA=101;QA=38;PBP=1828;PBM=1798;TYPE=SNP;DBXREF=dbSNP:rs7433231,g1000:1.0000,ExAC:1.0000,PhyloP:1.2750,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0170,GERP:5.0700,GnomAD_AC_exome:246152,GnomAD_AN_exome:246154,GnomAD_AC_genome:30965,GnomAD_AN_genome:30966,GnomAD:1.0000;SGVEP=MST1R|-|NM_001244937|16|c.3436A>G|p.(Ser1146Gly)|missense GT:DP:AD:DP4 1/1:121:0,121:0,0,61,60 3 49936102 102389282 T C 844 PASS VARTYPE=1;BGN=0.00140598;ARL=221;DER=71;DEA=90;QR=36;QA=36;PBP=439;PBM=413;TYPE=SNP;DBXREF=dbSNP:rs2230590,g1000:0.4165,esp5400:0.5587,ExAC:0.4170,PhyloP:-1.7030,SIFT:0.0000,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0000,LRT:0.9460,MutationTaster:0.0000,GERP:-6.7800,GnomAD_AC_exome:100154,GnomAD_AN_exome:245882,GnomAD_AC_genome:15863,GnomAD_AN_genome:30900,GnomAD:0.4192;SGVEP=MST1R|-|NM_001244937|4|c.1568A>G|p.(Gln523Arg)|missense GT:DP:AD:DP4 0/1:73:36,37:18,18,19,18 3 49940078 102389590 C T 1681 PASS VARTYPE=1;BGN=0.00140598;ARL=234;DER=106;DEA=111;QR=36;QA=36;PBP=869;PBM=825;TYPE=SNP;DBXREF=dbSNP:rs2230593,g1000:0.0204,esp5400:0.0488,ExAC:0.0440,PhyloP:-0.0500,SIFT:0.0000,PolyPhen2:0.0130,PolyPhen2_HumDiv:0.1120,LRT:0.9970,MutationTaster:0.1020,GERP:-0.8860,GnomAD_AC_exome:10589,GnomAD_AN_exome:245530,GnomAD_AC_genome:1300,GnomAD_AN_genome:30958,GnomAD:0.0430;SGVEP=MST1R|-|NM_001244937|1|c.965G>A|p.(Arg322Gln)|missense GT:DP:AD:DP4 0/1:144:70,74:36,34,38,36 3 50540895 102650774 TGGC T 124 low_variant_fraction;off_target VARTYPE=1;BGN=0.000976189;ARL=190;DER=81;DEA=63;QR=30;QA=104;PBP=75;PBM=56;SP=1;TYPE=INDEL;DBXREF=dbSNP:rs530076217,g1000:0.0024,GnomAD_AC_genome:2,GnomAD_AN_genome:15582,GnomAD:0.0001;SGVEP=CACNA2D2|-|NM_001291101|1|c.-2+602_-2+604del|.|intronic GT:DP:AD:DP4 0/1:182:155,9:82,73,5,4 3 50645635 102690634 T G 1110 off_target VARTYPE=1;BGN=0.00140598;ARL=266;DEA=83;QA=36;PBP=570;PBM=541;TYPE=SNP;DBXREF=dbSNP:rs621975,g1000:0.9453,GnomAD_AC_genome:29532,GnomAD_AN_genome:30908,GnomAD:0.9555;SGVEP=CISH|-|NM_013324|4|c.293-62A>C|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,20,19 3 50645793 102690701 C G 1838 off_target VARTYPE=1;BGN=0.00117154;ARL=236;DEA=67;QA=37;PBP=966;PBM=880;TYPE=SNP;DBXREF=dbSNP:rs622502,g1000:0.8610,esp5400:0.8423,ExAC:0.8840,GnomAD_AC_exome:199224,GnomAD_AN_exome:224154,GnomAD_AC_genome:26096,GnomAD_AN_genome:30942,GnomAD:0.8833;SGVEP=CISH|-|NM_013324|3|c.292+11G>C|.|intronic GT:DP:AD:DP4 1/1:69:0,65:0,0,34,31 3 51127848 102900081 A G 745 off_target VARTYPE=1;BGN=0.00117154;ARL=241;DER=51;DEA=54;QR=36;QA=37;PBP=378;PBM=374;TYPE=SNP;DBXREF=dbSNP:rs146177239,g1000:0.0020,esp5400:0.0029,ExAC:0.0027,GnomAD_AC_exome:609,GnomAD_AN_exome:198392,GnomAD_AC_genome:72,GnomAD_AN_genome:30970,GnomAD:0.0030;SGVEP=DOCK3|+|NM_004947|9|c.746+33A>G|.|intronic GT:DP:AD:DP4 0/1:49:19,30:9,10,15,15 3 51246360 102942301 A G 439 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=261;DEA=84;QA=37;PBP=234;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs4301044,g1000:0.9319,GnomAD_AC_genome:28024,GnomAD_AN_genome:30972,GnomAD:0.9048;SGVEP=DOCK3|+|NM_004947|13|c.1126+67A>G|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 3 51273711 102943604 A G 351 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=229;DEA=51;QA=37;PBP=176;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs1480362,g1000:0.7702,GnomAD_AC_genome:25444,GnomAD_AN_genome:30936,GnomAD:0.8225;SGVEP=DOCK3|+|NM_004947|20|c.1918-65A>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 3 51273773 102943612 T C 848 PASS VARTYPE=1;BGN=0.00117154;ARL=217;DEA=70;QA=37;PBP=410;PBM=439;TYPE=SNP;DBXREF=dbSNP:rs1480361,g1000:0.9964,esp5400:0.9914,ExAC:0.9910,GnomAD_AC_exome:243718,GnomAD_AN_exome:246072,GnomAD_AC_genome:30689,GnomAD_AN_genome:30982,GnomAD:0.9904;SGVEP=DOCK3|+|NM_004947|20|c.1918-3T>C|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,14,15 3 51274902 102943681 TA TAA 1763 off_target VARTYPE=1;BGN=0.00117154;ARL=217;DEA=64;QA=37;PBP=965;PBM=805;TYPE=INDEL;DBXREF=dbSNP:rs11396615,g1000:0.2648,ExAC:0.4340,GnomAD_AC_exome:104554,GnomAD_AN_exome:240580,GnomAD_AC_genome:12509,GnomAD_AN_genome:30860,GnomAD:0.4313;SGVEP=DOCK3|+|NM_004947|21|c.2002-18dupA|.|intronic GT:DP:AD:DP4 1/1:62:0,61:0,0,33,28 3 51393706 102995065 C CAG 1592 off_target VARTYPE=1;BGN=0.000976189;ARL=229;DER=0;DEA=62;QR=35;QA=74;PBP=834;PBM=766;TYPE=INDEL;DBXREF=dbSNP:rs35251332,g1000:0.9886,ExAC:0.9790,GnomAD_AC_exome:240415,GnomAD_AN_exome:245626,GnomAD_AC_genome:30193,GnomAD_AN_genome:30932,GnomAD:0.9785;SGVEP=DOCK3|+|NM_004947|42|c.4416+20_4416+21insAG|.|intronic GT:DP:AD:DP4 1/1:63:3,56:1,2,29,27 3 51395571 102995332 C T 1280 off_target VARTYPE=1;BGN=0.00140598;ARL=235;DEA=39;QA=36;PBP=570;PBM=712;TYPE=SNP;DBXREF=dbSNP:rs1542574,g1000:0.8121,GnomAD_AC_genome:24358,GnomAD_AN_genome:30902,GnomAD:0.7882;SGVEP=DOCK3|+|NM_004947|46|c.4884+63C>T|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,20,25 3 51399571 103005927 A C 120 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=287;DER=61;DEA=33;QR=34;QA=37;PBP=23;PBM=102;SP=3;TYPE=SNP;DBXREF=dbSNP:rs144642821,g1000:0.0036,GnomAD_AC_genome:149,GnomAD_AN_genome:30950,GnomAD:0.0048;SGVEP=DOCK3|+|NM_004947|48|c.5145+143A>C|.|intronic GT:DP:AD:DP4 0/1:11:6,5:3,3,1,4 3 52022742 103297559 G A 549 off_target VARTYPE=1;BGN=0.00168734;ARL=245;DER=92;DEA=102;QR=36;QA=35;PBP=246;PBM=309;TYPE=SNP;DBXREF=dbSNP:rs41292352,g1000:0.0206,esp5400:0.0301,ExAC:0.0320,GnomAD_AC_exome:7996,GnomAD_AN_exome:246266,GnomAD_AC_genome:907,GnomAD_AN_genome:30672,GnomAD:0.0321;SGVEP=ACY1|+|NM_000666|14|c.1002-40G>A|.|intronic GT:DP:AD:DP4 0/1:51:26,25:11,15,11,14 3 52256697 103412299 C T 3029 PASS VARTYPE=1;BGN=0.00117154;ARL=222;DEA=109;QA=37;PBP=1548;PBM=1490;TYPE=SNP;DBXREF=dbSNP:rs352140,g1000:0.4155,esp5400:0.4773,ExAC:0.4920,PhyloP:-2.5610,MutationTaster:0.0010,GERP:-11.1000,GnomAD_AC_exome:121588,GnomAD_AN_exome:245462,GnomAD_AC_genome:14157,GnomAD_AN_genome:30910,GnomAD:0.4912;SGVEP=TLR9|-|NM_017442|2|c.1635G>A|p.(Pro545:)|synonymous GT:DP:AD:DP4 1/1:104:0,104:0,0,53,51 3 52258372 103432024 T C 2072 off_target VARTYPE=1;BGN=0.00117154;ARL=238;DER=17;DEA=60;QR=11;QA=37;PBP=936;PBM=1140;TYPE=SNP;DBXREF=dbSNP:rs352139,g1000:0.5100,esp5400:0.5836,ExAC:0.4100,GnomAD_AC_exome:71310,GnomAD_AN_exome:138924,GnomAD_AC_genome:16324,GnomAD_AN_genome:30708,GnomAD:0.5166;SGVEP=TLR9|-|NM_017442|2|c.4-44A>G|.|intronic GT:DP:AD:DP4 1/1:71:0,71:0,0,32,39 3 52325039 103454519 G A 2091 PASS VARTYPE=1;BGN=0.00117154;ARL=200;DER=89;DEA=92;QR=36;QA=37;PBP=1091;PBM=1015;TYPE=SNP;DBXREF=dbSNP:rs35976326,g1000:0.1510,esp5400:0.1784,ExAC:0.1080,GnomAD_AC_exome:25112,GnomAD_AN_exome:245872,GnomAD_AC_genome:4788,GnomAD_AN_genome:30882,GnomAD:0.1080;SGVEP=GLYCTK|+|NM_001144951|3|c.441G>A|p.(Pro147:)|synonymous GT:DP:AD:DP4 0/1:154:67,87:34,33,45,42 3 52325759 103454890 A G 2884 PASS VARTYPE=1;BGN=0.00117154;ARL=225;DEA=62;QA=37;PBP=1548;PBM=1344;TYPE=SNP;DBXREF=dbSNP:rs2276834,g1000:0.5090,esp5400:0.5485,ExAC:0.4840,GnomAD_AC_exome:117546,GnomAD_AN_exome:245630,GnomAD_AC_genome:15957,GnomAD_AN_genome:30794,GnomAD:0.4830;SGVEP=GLYCTK|+|NM_001144951|4|c.530-517A>G|.|intronic GT:DP:AD:DP4 1/1:99:0,99:0,0,53,46 3 52442354 103561788 G C 119 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=259;DER=43;DEA=29;QR=36;QA=38;PBP=75;PBM=48;SP=0;TYPE=SNP;DBXREF=dbSNP:rs123602,g1000:0.1643,GnomAD_AC_genome:5358,GnomAD_AN_genome:30896,GnomAD:0.1734;SGVEP=BAP1|-|NM_004656|4|c.255+136C>G|.|intronic GT:DP:AD:DP4 0/1:13:8,5:4,4,3,2 3 52488202 103568346 C T 277 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=282;DEA=68;QA=35;PBP=83;PBM=194;TYPE=SNP;DBXREF=dbSNP:rs1035002,g1000:0.9700,GnomAD_AC_genome:29792,GnomAD_AN_genome:30830,GnomAD:0.9663;SGVEP=TNNC1|-|NM_003280|1|.|.|intergenic GT:DP:AD:DP4 1/1:10:0,10:0,0,3,7 3 52847544 103813804 C A 300 off_target VARTYPE=1;BGN=0.00117154;ARL=222;DER=66;DEA=74;QR=34;QA=37;PBP=153;PBM=153;TYPE=SNP;DBXREF=dbSNP:rs17331178,g1000:0.0523,esp5400:0.0785,ExAC:0.0810,GnomAD_AC_exome:20032,GnomAD_AN_exome:243842,GnomAD_AC_genome:2193,GnomAD_AN_genome:30924,GnomAD:0.0809;SGVEP=ITIH4|-|NM_001166449|22|c.2634-38G>T|.|intronic GT:DP:AD:DP4 0/1:44:30,14:15,15,7,7 3 52847601 103813845 C T 471 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=259;DER=119;DEA=60;QR=9;QA=35;PBP=222;PBM=249;TYPE=SNP;DBXREF=dbSNP:rs2071044,g1000:0.5527,GnomAD_AC_genome:16577,GnomAD_AN_genome:30836,GnomAD:0.5376;SGVEP=ITIH4|-|NM_001166449|22|c.2634-95G>A|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,8,9 3 52851137 103816047 T C 520 off_target VARTYPE=1;BGN=0.00140598;ARL=240;DER=86;DEA=24;QR=36;QA=36;PBP=269;PBM=258;TYPE=SNP;DBXREF=dbSNP:rs2240917,g1000:0.5078,GnomAD_AC_genome:14441,GnomAD_AN_genome:30818,GnomAD:0.4686;SGVEP=ITIH4|-|NM_001166449|19|c.2207-63A>G|.|intronic GT:DP:AD:DP4 0/1:39:17,22:7,10,11,11 3 52852060 103816524 T C 1432 off_target VARTYPE=1;BGN=0.00117154;ARL=202;DER=42;DEA=47;QR=35;QA=37;PBP=733;PBM=710;TYPE=SNP;DBXREF=dbSNP:rs2245538,g1000:0.5078,esp5400:0.4769,ExAC:0.4310,GnomAD_AC_exome:106348,GnomAD_AN_exome:245708,GnomAD_AC_genome:14461,GnomAD_AN_genome:30858,GnomAD:0.4368;SGVEP=ITIH4|-|NM_001166449|18|c.2206+8A>G|.|intronic GT:DP:AD:DP4 0/1:120:59,61:30,29,31,30 3 52852410 103816963 G A 649 off_target VARTYPE=1;BGN=0.00117154;ARL=233;DER=92;DEA=85;QR=38;QA=37;PBP=331;PBM=326;TYPE=SNP;DBXREF=dbSNP:rs41292864,g1000:0.0409,GnomAD_AC_genome:2305,GnomAD_AN_genome:30906,GnomAD:0.0746;SGVEP=ITIH4|-|NM_001166449|16|c.2062+68C>T|.|intronic GT:DP:AD:DP4 0/1:60:32,28:15,17,14,14 3 52852538 103817119 G T 908 PASS VARTYPE=1;BGN=0.00140598;ARL=213;DER=76;DEA=79;QR=37;QA=36;PBP=475;PBM=442;TYPE=SNP;DBXREF=dbSNP:rs4687657,g1000:0.2578,esp5400:0.2493,ExAC:0.2550,PhyloP:0.4470,SIFT:0.9830,PolyPhen2:0.0090,PolyPhen2_HumDiv:0.0140,LRT:0.0000,MutationTaster:0.0000,GERP:1.6200,GnomAD_AC_exome:63253,GnomAD_AN_exome:225272,GnomAD_AC_genome:8312,GnomAD_AN_genome:30852,GnomAD:0.2794;SGVEP=ITIH4|-|NM_001166449|16|c.2002C>A|p.(Pro668Thr)|missense GT:DP:AD:DP4 0/1:90:49,41:23,26,21,20 3 52853340 103817455 G C 1053 off_target VARTYPE=1;BGN=0.00140598;ARL=254;DEA=50;QA=36;PBP=570;PBM=484;TYPE=SNP;DBXREF=dbSNP:rs7620907,g1000:0.9998,GnomAD_AC_genome:30915,GnomAD_AN_genome:30918,GnomAD:0.9999;SGVEP=ITIH4|-|NM_001166449|15|c.1987+69C>G|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,20,17 3 52853401 103817542 C T 1073 off_target VARTYPE=1;BGN=0.000976189;ARL=225;DER=64;DEA=71;QR=36;QA=38;PBP=554;PBM=530;TYPE=SNP;DBXREF=dbSNP:rs3821831,g1000:0.1965,esp5400:0.3181,ExAC:0.2960,GnomAD_AC_exome:71843,GnomAD_AN_exome:245886,GnomAD_AC_genome:8886,GnomAD_AN_genome:30876,GnomAD:0.2917;SGVEP=ITIH4|-|NM_001166449|15|c.1987+8G>A|.|intronic GT:DP:AD:DP4 0/1:96:51,45:26,25,23,22 3 52853747 103818044 C G 466 off_target VARTYPE=1;BGN=0.000976189;ARL=204;DER=42;DEA=78;QR=33;QA=38;PBP=203;PBM=271;TYPE=SNP;DBXREF=dbSNP:rs2276815,g1000:0.2584,esp5400:0.2518,ExAC:0.2740,GnomAD_AC_exome:70590,GnomAD_AN_exome:246242,GnomAD_AC_genome:8321,GnomAD_AN_genome:30858,GnomAD:0.2848;SGVEP=ITIH4|-|NM_001166449|15|c.1862-213G>C|.|intronic GT:DP:AD:DP4 0/1:29:10,18:6,4,8,10 3 52854186 103818473 A C 340 off_target VARTYPE=1;BGN=0.00117154;ARL=255;DER=76;DEA=81;QR=36;QA=37;PBP=173;PBM=173;TYPE=SNP;DBXREF=dbSNP:rs2239548,g1000:0.5082,GnomAD_AC_genome:14456,GnomAD_AN_genome:30838,GnomAD:0.4688;SGVEP=ITIH4|-|NM_001166449|14|c.1861+121T>G|.|intronic GT:DP:AD:DP4 0/1:26:12,14:6,6,7,7 3 52855229 103819720 T C 309 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=266;DER=70;DEA=47;QR=33;QA=37;PBP=129;PBM=184;TYPE=SNP;DBXREF=dbSNP:rs2239547,g1000:0.2590,GnomAD_AC_genome:8314,GnomAD_AN_genome:30802,GnomAD:0.2699;SGVEP=ITIH4|-|NM_001166449|12|c.1540-83A>G|.|intronic GT:DP:AD:DP4 0/1:18:6,12:3,3,5,7 3 52860936 103823626 C T 1353 PASS VARTYPE=1;BGN=0.00140598;ARL=237;DER=98;DEA=97;QR=37;QA=36;PBP=709;PBM=655;TYPE=SNP;DBXREF=dbSNP:rs2276817,g1000:0.2450,esp5400:0.2275,ExAC:0.2480,GnomAD_AC_exome:64407,GnomAD_AN_exome:246192,GnomAD_AC_genome:7553,GnomAD_AN_genome:30834,GnomAD:0.2598;SGVEP=ITIH4|-|NM_001166449|4|c.390G>A|p.(Val130:)|synonymous GT:DP:AD:DP4 0/1:121:61,60:30,31,31,29 3 52861211 103823890 A T 1008 PASS VARTYPE=1;BGN=0.00117154;ARL=237;DER=78;DEA=56;QR=34;QA=37;PBP=497;PBM=521;TYPE=SNP;DBXREF=dbSNP:rs13072536,g1000:0.2452,esp5400:0.2277,ExAC:0.2480,PhyloP:0.3630,SIFT:0.9100,PolyPhen2:0.9170,PolyPhen2_HumDiv:0.9790,LRT:0.9390,MutationTaster:1.0000,GERP:3.0300,GnomAD_AC_exome:64392,GnomAD_AN_exome:246120,GnomAD_AC_genome:7560,GnomAD_AN_genome:30870,GnomAD:0.2598;SGVEP=ITIH4|-|NM_001166449|3|c.254T>A|p.(Ile85Asn)|missense GT:DP:AD:DP4 0/1:108:63,45:31,32,22,23 3 52864584 103825522 A G 710 PASS VARTYPE=1;BGN=0.00117154;ARL=230;DER=84;DEA=81;QR=37;QA=37;PBP=370;PBM=347;TYPE=SNP;DBXREF=dbSNP:rs2071042,g1000:0.5084,esp5400:0.4784,ExAC:0.4320,GnomAD_AC_exome:106717,GnomAD_AN_exome:246178,GnomAD_AC_genome:14475,GnomAD_AN_genome:30912,GnomAD:0.4374;SGVEP=ITIH4|-|NM_001166449|1|c.75T>C|p.(Thr25:)|synonymous GT:DP:AD:DP4 0/1:50:21,29:11,10,15,14 3 52864693 103825711 T G 480 off_target VARTYPE=1;BGN=0.00117154;ARL=241;DER=83;DEA=76;QR=37;QA=37;PBP=217;PBM=270;TYPE=SNP;DBXREF=dbSNP:rs2071041,g1000:0.3594,esp5400:0.3395,ExAC:0.2770,GnomAD_AC_exome:62272,GnomAD_AN_exome:213490,GnomAD_AC_genome:10566,GnomAD_AN_genome:30878,GnomAD:0.2981;SGVEP=ITIH4|-|NM_001166449|1|c.-35A>C|.|5'UTR GT:DP:AD:DP4 0/1:38:18,20:9,9,9,11 3 53125922 76132 T C 816 PASS VARTYPE=1;BGN=0.00117154;ARL=214;DER=56;DEA=59;QR=38;QA=37;PBP=410;PBM=414;TYPE=SNP;DBXREF=dbSNP:rs11242,g1000:0.4904,esp5400:0.4538,ExAC:0.5500,clinvar:rs11242,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:138363,GnomAD_AN_exome:246000,GnomAD_AC_genome:15288,GnomAD_AN_genome:30882,GnomAD:0.5549;SGVEP=RFT1|-|NM_052859|13|c.1623A>G|p.(Thr541:)|synonymous GT:DP:AD:DP4 0/1:63:29,34:15,14,17,17 3 53126143 103955549 G A 235 off_target VARTYPE=1;BGN=0.00117154;ARL=248;DER=31;DEA=63;QR=35;QA=37;PBP=94;PBM=146;SP=2;TYPE=SNP;DBXREF=dbSNP:rs2581786,g1000:0.4902,GnomAD_AC_genome:15282,GnomAD_AN_genome:30884,GnomAD:0.4948;SGVEP=RFT1|-|NM_052859|13|c.1459-57C>T|.|intronic GT:DP:AD:DP4 0/1:22:12,10:6,6,4,6 3 53126672 103955831 TTGCCCTGGACAAGGC T 764 off_target VARTYPE=1;BGN=0.000976189;ARL=248;DER=51;DEA=60;QR=35;QA=553;PBP=378;PBM=395;NVF=0.56;TYPE=INDEL;DBXREF=dbSNP:rs141077598,g1000:0.1975,ExAC:0.2420,GnomAD_AC_exome:54903,GnomAD_AN_exome:208290,GnomAD_AC_genome:8432,GnomAD_AN_genome:30880,GnomAD:0.2648;SGVEP=RFT1|-|NM_052859|12|c.1209-53_1209-39del|.|intronic GT:DP:AD:DP4 0/1:81:48,33:22,26,16,17 3 53133526 103957568 A G 642 off_target VARTYPE=1;BGN=0.00140598;ARL=221;DER=64;DEA=49;QR=37;QA=36;PBP=314;PBM=336;TYPE=SNP;DBXREF=dbSNP:rs2581829,g1000:0.5212,esp5400:0.4892,ExAC:0.5830,GnomAD_AC_exome:144736,GnomAD_AN_exome:243732,GnomAD_AC_genome:16299,GnomAD_AN_genome:30818,GnomAD:0.5865;SGVEP=RFT1|-|NM_052859|11|c.1103-24T>C|.|intronic GT:DP:AD:DP4 0/1:90:59,31:29,30,15,16 3 53529140 104064899 T C 1365 off_target VARTYPE=1;BGN=0.00140598;ARL=213;DEA=51;QA=36;PBP=684;PBM=684;TYPE=SNP;DBXREF=dbSNP:rs312480,g1000:0.8594,esp5400:0.8539,GnomAD_AC_genome:24967,GnomAD_AN_genome:29584,GnomAD:0.8439;SGVEP=CACNA1D|+|NM_000720|1|c.-54T>C|.|5'UTR GT:DP:AD:DP4 1/1:48:0,48:0,0,24,24 3 53700550 76153 T C 596 PASS VARTYPE=1;BGN=0.00117154;ARL=220;DER=65;DEA=59;QR=36;QA=37;PBP=292;PBM=313;TYPE=SNP;DBXREF=dbSNP:rs2250736,g1000:0.7065,esp5400:0.6503,ExAC:0.5940,PhyloP:-1.8860,MutationTaster:1.0000,GERP:-7.6700,clinvar:rs2250736,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:144587,GnomAD_AN_exome:245724,GnomAD_AC_genome:19986,GnomAD_AN_genome:30908,GnomAD:0.5949;SGVEP=CACNA1D|+|NM_000720|7|c.1104T>C|p.(Asp368:)|synonymous GT:DP:AD:DP4 0/1:101:72,29:35,37,14,15 3 53752528 104170239 C T 216 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=241;DER=50;DEA=94;QR=37;QA=35;PBP=121;PBM=99;SP=0;TYPE=SNP;DBXREF=dbSNP:rs56101638,g1000:0.0228,GnomAD_AC_genome:1233,GnomAD_AN_genome:30820,GnomAD:0.0400;SGVEP=CACNA1D|+|NM_000720|10|c.1478+113C>T|.|intronic GT:DP:AD:DP4 0/1:14:5,9:3,2,5,4 3 53766026 104173226 T C 732 off_target VARTYPE=1;BGN=0.00117154;ARL=220;DEA=69;QA=37;PBP=381;PBM=351;TYPE=SNP;DBXREF=dbSNP:rs2612033,g1000:0.9109,esp5400:0.8658,ExAC:0.8890,GnomAD_AC_exome:218706,GnomAD_AN_exome:246146,GnomAD_AC_genome:27438,GnomAD_AN_genome:30940,GnomAD:0.8883;SGVEP=CACNA1D|+|NM_000720|19|c.2467-17T>C|.|intronic GT:DP:AD:DP4 1/1:25:0,25:0,0,13,12 3 53769479 76166 C T 10000 PASS VARTYPE=1;BGN=0.00117154;ARL=209;DEA=81;QA=37;PBP=1839;PBM=1868;TYPE=SNP;DBXREF=dbSNP:rs1045958,g1000:0.1923,esp5400:0.2522,ExAC:0.2990,clinvar:rs1045958,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:74594,GnomAD_AN_exome:246222,GnomAD_AC_genome:8291,GnomAD_AN_genome:30920,GnomAD:0.2991;SGVEP=CACNA1D|+|NM_000720|21|c.2760C>T|p.(Ser920:)|synonymous GT:DP:AD:DP4 1/1:127:0,127:0,0,63,64 3 53776995 104174510 T C 936 off_target VARTYPE=1;BGN=0.00117154;ARL=232;DEA=53;QA=37;PBP=468;PBM=468;TYPE=SNP;DBXREF=dbSNP:rs2612026,g1000:0.8029,esp5400:0.7525,ExAC:0.8420,GnomAD_AC_exome:208587,GnomAD_AN_exome:245960,GnomAD_AC_genome:24080,GnomAD_AN_genome:30888,GnomAD:0.8404;SGVEP=CACNA1D|+|NM_000720|23|c.2872-43T>C|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,16,16 3 53779580 104174664 G C 1847 off_target VARTYPE=1;BGN=0.00140598;ARL=254;DEA=49;QA=36;PBP=968;PBM=883;TYPE=SNP;DBXREF=dbSNP:rs2612024,g1000:0.8023,GnomAD_AC_genome:24021,GnomAD_AN_genome:30870,GnomAD:0.7781;SGVEP=CACNA1D|+|NM_000720|25|c.3067-71G>C|.|intronic GT:DP:AD:DP4 1/1:65:0,65:0,0,34,31 3 53779825 104174703 A G 2826 off_target VARTYPE=1;BGN=0.00117154;ARL=243;DEA=75;QA=37;PBP=1344;PBM=1490;TYPE=SNP;DBXREF=dbSNP:rs3821860,g1000:0.2322,esp5400:0.3112,ExAC:0.3190,GnomAD_AC_exome:77700,GnomAD_AN_exome:246062,GnomAD_AC_genome:9142,GnomAD_AN_genome:30900,GnomAD:0.3136;SGVEP=CACNA1D|+|NM_000720|26|c.3175-25A>G|.|intronic GT:DP:AD:DP4 1/1:97:0,97:0,0,46,51 3 53806803 104181844 G C 570 off_target VARTYPE=1;BGN=0.00140598;ARL=216;DEA=43;QA=36;PBP=342;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs2278517,g1000:0.5459,esp5400:0.7070,GnomAD_AC_genome:20461,GnomAD_AN_genome:30928,GnomAD:0.6616;SGVEP=CACNA1D|+|NM_000720|34|c.4105-57G>C|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,12,8 3 53814197 104184294 G A 1344 off_target VARTYPE=1;BGN=0.00117154;ARL=235;DEA=47;QA=37;PBP=644;PBM=702;TYPE=SNP;DBXREF=dbSNP:rs1829423,g1000:0.5503,esp5400:0.6652,ExAC:0.6210,GnomAD_AC_exome:151453,GnomAD_AN_exome:245430,GnomAD_AC_genome:19926,GnomAD_AN_genome:30870,GnomAD:0.6203;SGVEP=CACNA1D|+|NM_000720|39|c.4750+42G>A|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,22,24 3 54157710 104375687 A T 499 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=233;DEA=58;QA=35;PBP=222;PBM=277;TYPE=SNP;DBXREF=dbSNP:rs2290132,g1000:0.2562,GnomAD_AC_genome:8736,GnomAD_AN_genome:30920,GnomAD:0.2825;SGVEP=CACNA2D3|+|NM_018398|2|c.204+89A>T|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,8,10 3 54354431 104460300 G T 589 off_target VARTYPE=1;BGN=0.000976189;ARL=249;DER=66;DEA=61;QR=34;QA=38;PBP=314;PBM=282;TYPE=SNP;DBXREF=dbSNP:rs41277447,g1000:0.1262,esp5400:0.1053,ExAC:0.0670,GnomAD_AC_exome:15062,GnomAD_AN_exome:115166,GnomAD_AC_genome:3122,GnomAD_AN_genome:30956,GnomAD:0.1244;SGVEP=CACNA2D3|+|NM_018398|3|c.205-38G>T|.|intronic GT:DP:AD:DP4 0/1:38:15,23:7,8,12,11 3 54354510 104460344 T C 2188 PASS VARTYPE=1;BGN=0.00117154;ARL=231;DEA=98;QA=37;PBP=1140;PBM=1053;TYPE=SNP;DBXREF=dbSNP:rs9879885,g1000:0.6534,esp5400:0.7206,ExAC:0.6470,GnomAD_AC_exome:120085,GnomAD_AN_exome:175982,GnomAD_AC_genome:21303,GnomAD_AN_genome:30928,GnomAD:0.6833;SGVEP=CACNA2D3|+|NM_018398|3|c.246T>C|p.(Ile82:)|synonymous GT:DP:AD:DP4 1/1:75:0,75:0,0,39,36 3 54596815 104576331 T C 564 off_target VARTYPE=1;BGN=0.00117154;ARL=244;DER=68;DEA=68;QR=34;QA=37;PBP=297;PBM=273;TYPE=SNP;DBXREF=dbSNP:rs9814659,g1000:0.2468,esp5400:0.3006,ExAC:0.2700,GnomAD_AC_exome:65996,GnomAD_AN_exome:244604,GnomAD_AC_genome:8401,GnomAD_AN_genome:30912,GnomAD:0.2700;SGVEP=CACNA2D3|+|NM_018398|6|c.545-12T>C|.|intronic GT:DP:AD:DP4 0/1:40:17,23:9,8,12,11 3 54604188 104581344 T C 1315 off_target VARTYPE=1;BGN=0.00117154;ARL=248;DEA=73;QA=37;PBP=644;PBM=673;TYPE=SNP;DBXREF=dbSNP:rs2251788,g1000:0.5206,GnomAD_AC_genome:16851,GnomAD_AN_genome:30914,GnomAD:0.5451;SGVEP=CACNA2D3|+|NM_018398|8|c.888+57T>C|.|intronic GT:DP:AD:DP4 1/1:45:0,45:0,0,22,23 3 54615971 104596585 A G 222 off_target VARTYPE=1;BGN=0.00117154;ARL=251;DER=45;DEA=30;QR=35;QA=37;PBP=118;PBM=110;TYPE=SNP;DBXREF=dbSNP:rs6782115,g1000:0.3524,GnomAD_AC_genome:10954,GnomAD_AN_genome:30898,GnomAD:0.3545;SGVEP=CACNA2D3|+|NM_018398|9|c.963+67A>G|.|intronic GT:DP:AD:DP4 0/1:28:18,10:7,11,5,5 3 54798258 104664993 G A 1120 PASS VARTYPE=1;BGN=0.00117154;ARL=221;DER=69;DEA=65;QR=36;QA=37;PBP=550;PBM=580;TYPE=SNP;DBXREF=dbSNP:rs3732748,g1000:0.3920,esp5400:0.3937,ExAC:0.4620,GnomAD_AC_exome:114225,GnomAD_AN_exome:246026,GnomAD_AC_genome:12693,GnomAD_AN_genome:30824,GnomAD:0.4584;SGVEP=CACNA2D3|+|NM_018398|13|c.1260G>A|p.(Gln420:)|synonymous GT:DP:AD:DP4 0/1:88:41,47:21,20,23,24 3 54872782 104720844 C T 181 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=244;DER=16;DEA=32;QR=36;QA=35;PBP=68;PBM=118;SP=0;TYPE=SNP;DBXREF=dbSNP:rs181627247,g1000:0.0004,GnomAD_AC_genome:8,GnomAD_AN_genome:30970,GnomAD:0.0003;SGVEP=CACNA2D3|+|NM_018398|16|c.1551+107C>T|.|intronic GT:DP:AD:DP4 0/1:16:8,8:4,4,3,5 3 54919272 104737829 A G 163 off_target VARTYPE=1;BGN=0.00117154;ARL=241;DER=90;DEA=92;QR=36;QA=37;PBP=84;PBM=85;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1405330,g1000:0.8518,esp5400:0.7650,ExAC:0.7590,GnomAD_AC_exome:187312,GnomAD_AN_exome:245768,GnomAD_AC_genome:24031,GnomAD_AN_genome:30870,GnomAD:0.7640;SGVEP=CACNA2D3|+|NM_018398|22|c.1913-36A>G|.|intronic GT:DP:AD:DP4 0/1:33:25,8:13,12,4,4 3 54919351 104737940 A G 158 PASS VARTYPE=1;BGN=0.00117154;ARL=240;DER=80;DEA=117;QR=36;QA=37;PBP=82;PBM=80;SP=0;TYPE=SNP;DBXREF=dbSNP:rs10510774,g1000:0.0567,esp5400:0.1141,ExAC:0.1020,GnomAD_AC_exome:25088,GnomAD_AN_exome:246168,GnomAD_AC_genome:3338,GnomAD_AN_genome:30932,GnomAD:0.1026;SGVEP=CACNA2D3|+|NM_018398|22|c.1956A>G|p.(Glu652:)|synonymous GT:DP:AD:DP4 0/1:38:30,8:14,16,4,4 3 54930773 104747732 A G 789 PASS VARTYPE=1;BGN=0.00117154;ARL=233;DER=85;DEA=72;QR=34;QA=37;PBP=414;PBM=384;TYPE=SNP;DBXREF=dbSNP:rs17253119,g1000:0.0807,esp5400:0.1268,ExAC:0.0950,GnomAD_AC_exome:22454,GnomAD_AN_exome:246204,GnomAD_AC_genome:3816,GnomAD_AN_genome:30922,GnomAD:0.0948;SGVEP=CACNA2D3|+|NM_018398|26|c.2247-3A>G|.|intronic GT:DP:AD:DP4 0/1:62:29,33:14,15,17,16 3 55003733 104768635 G T 261 off_target VARTYPE=1;BGN=0.00117154;ARL=228;DER=33;DEA=46;QR=38;QA=37;PBP=146;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs881820,g1000:0.3956,GnomAD_AC_genome:11272,GnomAD_AN_genome:30866,GnomAD:0.3652;SGVEP=CACNA2D3|+|NM_018398|29|c.2512-94G>T|.|intronic GT:DP:AD:DP4 0/1:23:12,11:6,6,6,5 3 55018619 104792609 T TG 179 off_target VARTYPE=1;BGN=0.000976189;ARL=206;DER=49;DEA=45;QR=36;QA=38;PBP=92;PBM=92;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs56055307,g1000:0.2067,ExAC:0.1520,GnomAD_AC_exome:33684,GnomAD_AN_exome:145276,GnomAD_AC_genome:5104,GnomAD_AN_genome:30802,GnomAD:0.2203;SGVEP=CACNA2D3|+|NM_018398|30|c.2557-16_2557-15insG|.|intronic GT:DP:AD:DP4 0/1:26:16,8:8,8,4,4 3 55038898 104801177 A G 1374 off_target VARTYPE=1;BGN=0.00117154;ARL=226;DEA=50;QA=37;PBP=673;PBM=702;TYPE=SNP;DBXREF=dbSNP:rs4955827,g1000:0.9878,esp5400:0.9753,ExAC:0.9770,GnomAD_AC_exome:236591,GnomAD_AN_exome:242172,GnomAD_AC_genome:30219,GnomAD_AN_genome:30848,GnomAD:0.9773;SGVEP=CACNA2D3|+|NM_018398|32|c.2766+33A>G|.|intronic GT:DP:AD:DP4 1/1:47:0,47:0,0,23,24 3 55043613 104803294 G C 190 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=264;DER=109;DEA=21;QR=30;QA=37;PBP=82;PBM=110;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3773570,g1000:0.6498,GnomAD_AC_genome:23173,GnomAD_AN_genome:30890,GnomAD:0.7502;SGVEP=CACNA2D3|+|NM_018398|34|c.2875+143G>C|.|intronic GT:DP:AD:DP4 0/1:9:2,7:1,1,3,4 3 55108149 104835983 A G 155 low_variant_fraction VARTYPE=1;BGN=0.00117154;ARL=210;DER=85;DEA=51;QR=37;QA=37;PBP=80;PBM=80;SP=0;TYPE=SNP;DBXREF=dbSNP:rs17054785,g1000:0.1008,esp5400:0.1520,ExAC:0.1220,GnomAD_AC_exome:29339,GnomAD_AN_exome:245766,GnomAD_AC_genome:4722,GnomAD_AN_genome:30908,GnomAD:0.1231;SGVEP=CACNA2D3|+|NM_018398|38|c.3192A>G|p.(Ala1064:)|synonymous GT:DP:AD:DP4 0/1:41:33,8:16,17,4,4 3 55108188 104836043 A G 144 low_variant_fraction VARTYPE=1;BGN=0.00140598;ARL=209;DER=91;DEA=90;QR=38;QA=36;PBP=75;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs35471424,g1000:0.0877,esp5400:0.1374,ExAC:0.1230,GnomAD_AC_exome:30022,GnomAD_AN_exome:245926,GnomAD_AC_genome:4360,GnomAD_AN_genome:30922,GnomAD:0.1242;SGVEP=CACNA2D3|+|NM_018398|38|c.3231A>G|p.(Thr1077:)|synonymous GT:DP:AD:DP4 0/1:46:38,8:19,19,4,4 3 55514766 105027044 A T 235 off_target VARTYPE=1;BGN=0.00117154;ARL=228;DER=41;DEA=44;QR=37;QA=37;PBP=146;PBM=94;SP=2;TYPE=SNP;DBXREF=dbSNP:rs73075443,g1000:0.1084,esp5400:0.1272,ExAC:0.0910,GnomAD_AC_exome:19063,GnomAD_AN_exome:117370,GnomAD_AC_genome:4653,GnomAD_AN_genome:30938,GnomAD:0.1599;SGVEP=WNT5A|-|NM_001256105|2|c.95+47T>A|.|intronic GT:DP:AD:DP4 0/1:22:12,10:6,6,6,4 3 56591178 105522420 A G 575 off_target VARTYPE=1;BGN=0.00140598;ARL=249;DER=45;DEA=53;QR=35;QA=36;PBP=287;PBM=295;TYPE=SNP;DBXREF=dbSNP:rs73079891,g1000:0.1913,esp5400:0.4017,GnomAD_AC_genome:10564,GnomAD_AN_genome:30810,GnomAD:0.3429;SGVEP=CCDC66|+|NM_001012506|1|.|.|intergenic GT:DP:AD:DP4 0/1:59:33,26:18,15,13,13 3 56591208 105522424 G C 1067 off_target VARTYPE=1;BGN=0.00117154;ARL=231;DER=51;DEA=58;QR=37;QA=37;PBP=640;PBM=437;TYPE=SNP;DBXREF=dbSNP:rs62255965,g1000:0.0569,esp5400:0.0495,GnomAD_AC_genome:1607,GnomAD_AN_genome:30946,GnomAD:0.0519;SGVEP=CCDC66|+|NM_001012506|1|c.-146G>C|.|5'UTR GT:DP:AD:DP4 0/1:96:50,46:26,24,27,19 3 56591278 105522482 T TGGGGTAAGCA 1727 PASS VARTYPE=1;BGN=0.000976189;ARL=215;DER=71;DEA=82;QR=35;QA=366;PBP=927;PBM=817;TYPE=INDEL;DBXREF=dbSNP:rs150150392,g1000:0.6496,ExAC:0.6530,clinvar:rs60235683,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:23350,GnomAD_AN_genome:30510,GnomAD:0.7653;SGVEP=CCDC66|+|NM_001012506|1|c.-92+26_-92+35dup|.|intronic GT:DP:AD:DP4 0/1:250:163,80:80,83,42,38 3 56591298 105522520 T A 143 low_variant_fraction;off_target VARTYPE=1;BGN=0.00168734;ARL=204;DER=69;DEA=20;QR=35;QA=35;PBP=74;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs73079892,esp5400:0.3358,GnomAD_AC_exome:9,GnomAD_AN_exome:140520,GnomAD:0.0001;SGVEP=CCDC66|+|NM_001012506|1|c.-92+36T>A|.|intronic GT:DP:AD:DP4 0/1:362:348,14:176,172,7,7 3 56591508 105522569 C A 860 off_target VARTYPE=1;BGN=0.00117154;ARL=260;DER=48;DEA=42;QR=35;QA=37;PBP=378;PBM=490;TYPE=SNP;DBXREF=dbSNP:rs73079894,g1000:0.1913,GnomAD_AC_genome:10578,GnomAD_AN_genome:30876,GnomAD:0.3426;SGVEP=CCDC66|+|NM_001012506|1|c.-92+246C>A|.|intronic GT:DP:AD:DP4 0/1:59:24,35:9,15,15,20 3 56593543 105522891 C A 137 low_coverage;off_target VARTYPE=1;BGN=0.00168734;ARL=217;DER=39;DEA=70;QR=38;QA=35;PBP=70;PBM=70;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12486047,g1000:0.6504,esp5400:0.8164,GnomAD_AC_genome:23895,GnomAD_AN_genome:30924,GnomAD:0.7727;SGVEP=CCDC66|+|NM_001012506|3|c.-26-54C>A|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 3 56593680 105522926 T C 631 off_target VARTYPE=1;BGN=0.000976189;ARL=224;DEA=72;QA=38;PBP=301;PBM=331;TYPE=SNP;DBXREF=dbSNP:rs11130525,g1000:0.7576,esp5400:0.8896,GnomAD_AC_genome:26539,GnomAD_AN_genome:30918,GnomAD:0.8584;SGVEP=CCDC66|+|NM_001012506|3|c.-1+58T>C|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,10,11 3 56597688 105523559 A G 305 off_target VARTYPE=1;BGN=0.00117154;ARL=227;DER=63;DEA=47;QR=36;QA=37;PBP=141;PBM=170;TYPE=SNP;DBXREF=dbSNP:rs6781293,g1000:0.1915,esp5400:0.4016,ExAC:0.2910,GnomAD_AC_exome:45712,GnomAD_AN_exome:132608,GnomAD_AC_genome:10597,GnomAD_AN_genome:30904,GnomAD:0.3444;SGVEP=CCDC66|+|NM_001012506|4|c.1-24A>G|.|intronic GT:DP:AD:DP4 0/1:28:15,13:8,7,6,7 3 56597954 105523658 C T 727 PASS VARTYPE=1;BGN=0.00117154;ARL=214;DER=76;DEA=84;QR=36;QA=37;PBP=381;PBM=355;TYPE=SNP;DBXREF=dbSNP:rs6769055,g1000:0.6508,esp5400:0.7738,ExAC:0.7560,GnomAD_AC_exome:187261,GnomAD_AN_exome:245490,GnomAD_AC_genome:23895,GnomAD_AN_genome:30912,GnomAD:0.7639;SGVEP=CCDC66|+|NM_001012506|4|c.243C>T|p.(Thr81:)|synonymous GT:DP:AD:DP4 0/1:63:32,31:16,16,16,15 3 56627048 105530704 A G 1053 PASS VARTYPE=1;BGN=0.00117154;ARL=210;DEA=93;QA=37;PBP=498;PBM=556;TYPE=SNP;DBXREF=dbSNP:rs1388256,g1000:0.7360,esp5400:0.8392,ExAC:0.8210,GnomAD_AC_exome:201085,GnomAD_AN_exome:244222,GnomAD_AC_genome:25959,GnomAD_AN_genome:30922,GnomAD:0.8252;SGVEP=CCDC66|+|NM_001012506|8|c.885A>G|p.(Gln295:)|synonymous GT:DP:AD:DP4 1/1:36:0,36:0,0,17,19 3 56627598 105531097 A G 2478 PASS VARTYPE=1;BGN=0.00117154;ARL=218;DEA=92;QA=37;PBP=1286;PBM=1199;TYPE=SNP;DBXREF=dbSNP:rs1491170,g1000:0.9603,esp5400:0.9555,ExAC:0.9870,PhyloP:-2.6920,SIFT:0.2700,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.2250,MutationTaster:0.0000,GERP:-7.3500,GnomAD_AC_exome:243628,GnomAD_AN_exome:246192,GnomAD_AC_genome:29727,GnomAD_AN_genome:30976,GnomAD:0.9862;SGVEP=CCDC66|+|NM_001012506|9|c.1046A>G|p.(Gln349Arg)|missense GT:DP:AD:DP4 1/1:85:0,85:0,0,44,41 3 56628031 105531373 G A 460 PASS VARTYPE=1;BGN=0.000976189;ARL=216;DER=64;DEA=107;QR=37;QA=38;PBP=248;PBM=219;TYPE=SNP;DBXREF=dbSNP:rs7637449,g1000:0.2151,esp5400:0.4018,ExAC:0.3960,PhyloP:2.7390,SIFT:0.9630,PolyPhen2:0.9990,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.8100,GnomAD_AC_exome:97147,GnomAD_AN_exome:246108,GnomAD_AC_genome:12254,GnomAD_AN_genome:30908,GnomAD:0.3949;SGVEP=CCDC66|+|NM_001012506|10|c.1277G>A|p.(Arg426Gln)|missense GT:DP:AD:DP4 0/1:40:21,19:10,11,10,9 3 56650051 105537075 A ACTT 272 PASS VARTYPE=1;BGN=0.000976189;ARL=216;DER=81;DEA=92;QR=37;QA=112;PBP=140;PBM=138;TYPE=INDEL;DBXREF=dbSNP:rs77152637,ExAC:0.4120,GnomAD_AC_exome:94068,GnomAD_AN_exome:220310,GnomAD_AC_genome:12262,GnomAD_AN_genome:29034,GnomAD:0.4264;SGVEP=CCDC66|+|NM_001012506|13|c.1714_1716dup|p.(Ser572dup)|inframe_3 GT:DP:AD:DP4 0/1:35:21,12:10,11,6,6 3 56653424 105539642 A T 425 PASS VARTYPE=1;BGN=0.00117154;ARL=217;DER=92;DEA=120;QR=37;QA=37;PBP=182;PBM=253;TYPE=SNP;DBXREF=dbSNP:rs61747991,g1000:0.0571,esp5400:0.0488,ExAC:0.0520,PhyloP:0.3910,SIFT:0.9670,PolyPhen2:0.0590,PolyPhen2_HumDiv:0.2080,LRT:0.4470,MutationTaster:0.0010,GERP:1.2100,GnomAD_AC_exome:12114,GnomAD_AN_exome:245708,GnomAD_AC_genome:1602,GnomAD_AN_genome:30914,GnomAD:0.0496;SGVEP=CCDC66|+|NM_001012506|16|c.2402A>T|p.(Glu801Val)|missense GT:DP:AD:DP4 0/1:80:58,21:29,29,9,12 3 56653427 105539647 T C 441 PASS VARTYPE=1;BGN=0.000976189;ARL=216;DER=95;DEA=120;QR=38;QA=38;PBP=188;PBM=262;TYPE=SNP;DBXREF=dbSNP:rs61747994,g1000:0.0565,esp5400:0.0487,ExAC:0.0520,PhyloP:-0.6590,SIFT:0.4020,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0040,LRT:0.0440,MutationTaster:0.0000,GERP:-5.0200,GnomAD_AC_exome:12112,GnomAD_AN_exome:246014,GnomAD_AC_genome:1602,GnomAD_AN_genome:30928,GnomAD:0.0495;SGVEP=CCDC66|+|NM_001012506|16|c.2405T>C|p.(Leu802Ser)|missense GT:DP:AD:DP4 0/1:80:59,21:30,29,9,12 3 56653609 105539974 CGT C 221 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=225;DER=26;DEA=41;QR=37;QA=73;PBP=129;PBM=97;SP=2;TYPE=INDEL;DBXREF=dbSNP:rs10534869,g1000:0.7849,GnomAD_AC_genome:18545,GnomAD_AN_genome:30788,GnomAD:0.6023;SGVEP=CCDC66|+|NM_001012506|16|c.2533+55_2533+56del|.|intronic GT:DP:AD:DP4 0/1:19:10,9:4,6,5,4 3 57582718 106037700 GAAAAAAA GAAAA 110 low_coverage;off_target VARTYPE=1;BGN=0.0385788;ARL=235;DER=50;DEA=60;QR=37;QA=85;HL=7;PBP=33;PBM=85;SP=7;TYPE=INDEL;DBXREF=dbSNP:rs397989754,GnomAD_AC_genome:11635,GnomAD_AN_genome:30660,GnomAD:0.3795;SGVEP=ARF4|-|NM_001660|1|c.67+80_67+82del|.|intronic GT:DP:AD:DP4 0/1:11:8,3:4,4,1,2 3 58080505 106223618 G T 364 off_target VARTYPE=1;BGN=0.00168734;ARL=245;DER=38;DEA=57;QR=37;QA=35;PBP=222;PBM=149;TYPE=SNP;DBXREF=dbSNP:rs7644723,g1000:0.6098,GnomAD_AC_genome:12997,GnomAD_AN_genome:30874,GnomAD:0.4210;SGVEP=FLNB|+|NM_001164317|5|c.788-58G>T|.|intronic GT:DP:AD:DP4 0/1:39:22,17:11,11,10,7 3 58081888 106223738 T C 390 PASS VARTYPE=1;BGN=0.00117154;ARL=207;DER=82;DEA=95;QR=37;QA=37;PBP=196;PBM=200;TYPE=SNP;DBXREF=dbSNP:rs1522384,g1000:0.6420,esp5400:0.3976,ExAC:0.4640,clinvar:rs1522384,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:114717,GnomAD_AN_exome:245738,GnomAD_AC_genome:13565,GnomAD_AN_genome:30908,GnomAD:0.4637;SGVEP=FLNB|+|NM_001164317|6|c.927T>C|p.(Ser309:)|synonymous GT:DP:AD:DP4 0/1:29:13,16:7,6,8,8 3 58089585 106224268 T A 133 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=250;DER=48;DEA=40;QR=36;QA=37;PBP=94;PBM=44;SP=2;TYPE=SNP;DBXREF=dbSNP:rs6445946,g1000:0.5561,GnomAD_AC_genome:10683,GnomAD_AN_genome:26160,GnomAD:0.4084;SGVEP=FLNB|+|NM_001164317|10|c.1484-101T>A|.|intronic GT:DP:AD:DP4 0/1:18:12,6:6,6,4,2 3 58089594 106224272 GTT GT 161 off_target VARTYPE=1;BGN=0.0134795;ARL=248;DER=28;DEA=57;QR=35;QA=36;HL=2;PBP=83;PBM=83;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs3215311,g1000:0.2879,GnomAD_AC_genome:11695,GnomAD_AN_genome:30848,GnomAD:0.3791;SGVEP=FLNB|+|NM_001164317|10|c.1484-90del|.|intronic GT:DP:AD:DP4 0/1:24:12,12:6,6,6,6 3 58089851 106224320 G A 750 off_target VARTYPE=1;BGN=0.00117154;ARL=226;DER=55;DEA=49;QR=36;QA=37;PBP=444;PBM=314;TYPE=SNP;DBXREF=dbSNP:rs1522385,g1000:0.1228,esp5400:0.2415,ExAC:0.2330,GnomAD_AC_exome:57108,GnomAD_AN_exome:243096,GnomAD_AC_genome:6511,GnomAD_AN_genome:30856,GnomAD:0.2322;SGVEP=FLNB|+|NM_001164317|10|c.1610+39G>A|.|intronic GT:DP:AD:DP4 0/1:56:25,31:13,12,18,13 3 58089877 106224328 A G 1025 off_target VARTYPE=1;BGN=0.00140598;ARL=239;DEA=47;QA=36;PBP=570;PBM=456;TYPE=SNP;DBXREF=dbSNP:rs1522386,g1000:0.8440,GnomAD_AC_genome:22318,GnomAD_AN_genome:30752,GnomAD:0.7257;SGVEP=FLNB|+|NM_001164317|10|c.1610+65A>G|.|intronic GT:DP:AD:DP4 1/1:36:0,36:0,0,20,16 3 58092346 106224490 A G 282 off_target VARTYPE=1;BGN=0.00140598;ARL=247;DER=51;DEA=40;QR=36;QA=36;PBP=166;PBM=122;TYPE=SNP;DBXREF=dbSNP:rs2177153,g1000:0.2021,GnomAD_AC_genome:8742,GnomAD_AN_genome:30840,GnomAD:0.2835;SGVEP=FLNB|+|NM_001164317|12|c.1748-61A>G|.|intronic GT:DP:AD:DP4 0/1:48:34,14:18,16,8,6 3 58094157 106224640 A G 520 off_target VARTYPE=1;BGN=0.00140598;ARL=225;DER=46;DEA=29;QR=36;QA=36;PBP=290;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs2259091,g1000:0.6605,esp5400:0.4287,ExAC:0.4420,GnomAD_AC_exome:106576,GnomAD_AN_exome:240082,GnomAD_AC_genome:13991,GnomAD_AN_genome:30906,GnomAD:0.4449;SGVEP=FLNB|+|NM_001164317|13|c.1942-28A>G|.|intronic GT:DP:AD:DP4 0/1:59:35,24:17,18,13,11 3 58094852 106224710 C T 412 off_target VARTYPE=1;BGN=0.000976189;ARL=248;DER=57;DEA=52;QR=37;QA=38;PBP=245;PBM=173;TYPE=SNP;DBXREF=dbSNP:rs7634236,g1000:0.6512,GnomAD_AC_genome:13108,GnomAD_AN_genome:30928,GnomAD:0.4238;SGVEP=FLNB|+|NM_001164317|14|c.2056-54C>T|.|intronic GT:DP:AD:DP4 0/1:36:19,17:11,8,10,7 3 58094945 106224722 C T 1374 PASS VARTYPE=1;BGN=0.00117154;ARL=210;DER=81;DEA=75;QR=37;QA=37;PBP=690;PBM=696;TYPE=SNP;DBXREF=dbSNP:rs200554477,g1000:0.0004,ExAC:0.0002,PhyloP:2.7090,SIFT:0.9980,PolyPhen2:0.9240,PolyPhen2_HumDiv:0.9970,LRT:1.0000,MutationTaster:0.9990,GERP:4.4400,GnomAD_AC_exome:51,GnomAD_AN_exome:246066,GnomAD_AC_genome:4,GnomAD_AN_genome:30966,GnomAD:0.0002;SGVEP=FLNB|+|NM_001164317|14|c.2095C>T|p.(Arg699Trp)|missense GT:DP:AD:DP4 0/1:130:70,60:36,34,30,30 3 58095466 106224794 G T 766 off_target VARTYPE=1;BGN=0.00117154;ARL=229;DER=69;DEA=61;QR=38;QA=37;PBP=387;PBM=387;TYPE=SNP;DBXREF=dbSNP:rs2708318,g1000:0.6985,esp5400:0.4802,ExAC:0.4740,GnomAD_AC_exome:115692,GnomAD_AN_exome:245324,GnomAD_AC_genome:15414,GnomAD_AN_genome:30882,GnomAD:0.4747;SGVEP=FLNB|+|NM_001164317|15|c.2323+40G>T|.|intronic GT:DP:AD:DP4 0/1:60:28,32:14,14,16,16 3 58095500 106224801 G T 447 off_target VARTYPE=1;BGN=0.00140598;ARL=235;DER=38;DEA=54;QR=34;QA=36;PBP=230;PBM=225;TYPE=SNP;DBXREF=dbSNP:rs2686635,g1000:0.6861,GnomAD_AC_genome:15030,GnomAD_AN_genome:30904,GnomAD:0.4863;SGVEP=FLNB|+|NM_001164317|15|c.2323+74G>T|.|intronic GT:DP:AD:DP4 0/1:44:24,20:11,13,10,10 3 58109162 106241342 G A 1856 PASS VARTYPE=1;BGN=0.00117154;ARL=231;DER=112;DEA=112;QR=36;QA=37;PBP=949;PBM=922;TYPE=SNP;DBXREF=dbSNP:rs1131356,g1000:0.5461,esp5400:0.3035,ExAC:0.3720,PhyloP:1.5370,SIFT:0.9440,PolyPhen2:0.9990,PolyPhen2_HumDiv:1.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.0800,clinvar:rs1131356,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:91959,GnomAD_AN_exome:245318,GnomAD_AC_genome:10470,GnomAD_AN_genome:30806,GnomAD:0.3710;SGVEP=FLNB|+|NM_001164317|21|c.3469G>A|p.(Asp1157Asn)|missense GT:DP:AD:DP4 0/1:153:74,79:37,37,40,39 3 58111285 106242636 T G 685 off_target VARTYPE=1;BGN=0.000976189;ARL=249;DER=78;DEA=47;QR=37;QA=38;PBP=345;PBM=348;TYPE=SNP;DBXREF=dbSNP:rs3732633,g1000:0.5859,esp5400:0.3502,ExAC:0.3860,GnomAD_AC_exome:94954,GnomAD_AN_exome:246132,GnomAD_AC_genome:11690,GnomAD_AN_genome:30916,GnomAD:0.3849;SGVEP=FLNB|+|NM_001164317|23|c.3899-23T>G|.|intronic GT:DP:AD:DP4 0/1:55:27,28:14,13,14,14 3 58112251 106243008 A G 352 off_target VARTYPE=1;BGN=0.00140598;ARL=242;DER=21;DEA=30;QR=36;QA=36;PBP=216;PBM=141;TYPE=SNP;DBXREF=dbSNP:rs12495232,g1000:0.5859,GnomAD_AC_genome:11674,GnomAD_AN_genome:30902,GnomAD:0.3778;SGVEP=FLNB|+|NM_001164317|24|c.4062-78A>G|.|intronic GT:DP:AD:DP4 0/1:28:13,15:7,6,9,6 3 58112440 106243154 A G 2710 PASS VARTYPE=1;BGN=0.00117154;ARL=221;DEA=79;QA=37;PBP=1315;PBM=1403;TYPE=SNP;DBXREF=dbSNP:rs2362903,g1000:0.8333,esp5400:0.7304,ExAC:0.7080,clinvar:rs2362903,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:173533,GnomAD_AN_exome:246184,GnomAD_AC_genome:22237,GnomAD_AN_genome:30898,GnomAD:0.7065;SGVEP=FLNB|+|NM_001164317|24|c.4173A>G|p.(Ala1391:)|synonymous GT:DP:AD:DP4 1/1:93:0,93:0,0,45,48 3 58112488 106243229 C T 381 PASS VARTYPE=1;BGN=0.00117154;ARL=238;DER=52;DEA=86;QR=36;QA=37;PBP=146;PBM=243;TYPE=SNP;DBXREF=dbSNP:rs2362904,g1000:0.6486,esp5400:0.4067,ExAC:0.4080,clinvar:rs2362904,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:99381,GnomAD_AN_exome:245656,GnomAD_AC_genome:13199,GnomAD_AN_genome:30910,GnomAD:0.4071;SGVEP=FLNB|+|NM_001164317|24|c.4221C>T|p.(Pro1407:)|synonymous GT:DP:AD:DP4 0/1:58:40,18:20,20,7,11 3 58112556 106243259 G C 298 off_target VARTYPE=1;BGN=0.00140598;ARL=268;DER=28;DEA=31;QR=35;QA=36;PBP=116;PBM=187;TYPE=SNP;DBXREF=dbSNP:rs2362905,g1000:0.6558,GnomAD_AC_genome:13387,GnomAD_AN_genome:30912,GnomAD:0.4331;SGVEP=FLNB|+|NM_001164317|24|c.4222+67G>C|.|intronic GT:DP:AD:DP4 0/1:27:14,13:6,8,5,8 3 58116369 106244133 T C 148 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=267;DER=33;DEA=17;QR=38;QA=36;PBP=73;PBM=80;SP=2;TYPE=SNP;DBXREF=dbSNP:rs1882692,g1000:0.5881,GnomAD_AC_genome:11757,GnomAD_AN_genome:30844,GnomAD:0.3812;SGVEP=FLNB|+|NM_001164317|25|c.4223-99T>C|.|intronic GT:DP:AD:DP4 0/1:10:2,6:2,0,3,3 3 58117724 106244754 G A 655 PASS VARTYPE=1;BGN=0.00117154;ARL=229;DER=92;DEA=94;QR=38;QA=37;PBP=331;PBM=331;TYPE=SNP;DBXREF=dbSNP:rs60183346,g1000:0.0887,esp5400:0.0195,ExAC:0.0340,GnomAD_AC_exome:9161,GnomAD_AN_exome:137360,GnomAD_AC_genome:1064,GnomAD_AN_genome:30972,GnomAD:0.0607;SGVEP=FLNB|+|NM_001164317|26|c.4461G>A|p.(Pro1487:)|synonymous GT:DP:AD:DP4 0/1:58:30,28:15,15,14,14 3 58118555 106245100 G A 1014 PASS VARTYPE=1;BGN=0.00117154;ARL=222;DER=63;DEA=85;QR=36;QA=37;PBP=523;PBM=502;TYPE=SNP;DBXREF=dbSNP:rs12632456,g1000:0.6082,esp5400:0.3626,ExAC:0.3950,PhyloP:0.2280,SIFT:0.9450,PolyPhen2:0.4230,PolyPhen2_HumDiv:0.8770,LRT:1.0000,MutationTaster:0.9880,GERP:2.7500,clinvar:rs12632456,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:96951,GnomAD_AN_exome:246138,GnomAD_AC_genome:12164,GnomAD_AN_genome:30904,GnomAD:0.3939;SGVEP=FLNB|+|NM_001164317|27|c.4504G>A|p.(Val1502Met)|missense GT:DP:AD:DP4 0/1:131:84,47:43,41,24,23 3 58118700 106245270 A G 418 off_target VARTYPE=1;BGN=0.00117154;ARL=238;DER=45;DEA=58;QR=36;QA=37;PBP=189;PBM=236;TYPE=SNP;DBXREF=dbSNP:rs12638356,g1000:0.5851,esp5400:0.3531,ExAC:0.3660,GnomAD_AC_exome:79383,GnomAD_AN_exome:203600,GnomAD_AC_genome:11720,GnomAD_AN_genome:30802,GnomAD:0.3887;SGVEP=FLNB|+|NM_001164317|27|c.4607+42A>G|.|intronic GT:DP:AD:DP4 0/1:67:47,20:23,24,9,11 3 58120535 106245982 C T 780 off_target VARTYPE=1;BGN=0.00140598;ARL=244;DER=60;DEA=68;QR=35;QA=36;PBP=397;PBM=391;TYPE=SNP;DBXREF=dbSNP:rs199731792,esp5400:0.0001,ExAC:0.0001,GnomAD_AC_exome:34,GnomAD_AN_exome:243902,GnomAD_AC_genome:6,GnomAD_AN_genome:30970,GnomAD:0.0001;SGVEP=FLNB|+|NM_001164317|28|c.4764+36C>T|.|intronic GT:DP:AD:DP4 0/1:66:32,34:15,17,17,17 3 58121626 106246213 T A 655 off_target VARTYPE=1;BGN=0.00140598;ARL=268;DEA=51;QA=36;PBP=342;PBM=314;TYPE=SNP;DBXREF=dbSNP:rs6445948,g1000:0.8291,GnomAD_AC_genome:22194,GnomAD_AN_genome:30936,GnomAD:0.7174;SGVEP=FLNB|+|NM_001164317|29|c.4765-80T>A|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,12,11 3 58129450 106249321 A G 117 low_coverage;off_target VARTYPE=1;BGN=0.002025;ARL=266;DER=24;DEA=17;QR=33;QA=34;PBP=41;PBM=81;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9826147,g1000:0.2208,GnomAD_AC_genome:9741,GnomAD_AN_genome:30902,GnomAD:0.3152;SGVEP=FLNB|+|NM_001164317|33|c.5518+110A>G|.|intronic GT:DP:AD:DP4 0/1:19:13,6:5,8,2,4 3 58132808 106250542 G A 212 off_target VARTYPE=1;BGN=0.00168734;ARL=253;DER=49;DEA=37;QR=36;QA=35;PBP=86;PBM=132;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9809281,g1000:0.1304,GnomAD_AC_genome:5922,GnomAD_AN_genome:30890,GnomAD:0.1917;SGVEP=FLNB|+|NM_001164317|35|c.5821+88G>A|.|intronic GT:DP:AD:DP4 0/1:25:15,10:7,8,4,6 3 58132809 106250565 C T 230 off_target VARTYPE=1;BGN=0.002025;ARL=253;DER=48;DEA=34;QR=34;QA=34;PBP=106;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs9809038,g1000:0.1304,GnomAD_AC_genome:5921,GnomAD_AN_genome:30878,GnomAD:0.1918;SGVEP=FLNB|+|NM_001164317|35|c.5821+89C>T|.|intronic GT:DP:AD:DP4 0/1:25:14,11:7,7,5,6 3 58145263 106255462 G A 2565 off_target VARTYPE=1;BGN=0.00117154;ARL=222;DEA=49;QA=37;PBP=1315;PBM=1257;TYPE=SNP;DBXREF=dbSNP:rs12634123,g1000:0.7486,esp5400:0.6315,ExAC:0.6700,clinvar:rs12634123,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:165008,GnomAD_AN_exome:246040,GnomAD_AC_genome:19556,GnomAD_AN_genome:30888,GnomAD:0.6665;SGVEP=FLNB|+|NM_001164317|43|c.6982-18G>A|.|intronic GT:DP:AD:DP4 1/1:88:0,88:0,0,45,43 3 58154327 106257990 C T 796 PASS VARTYPE=1;BGN=0.00117154;ARL=220;DER=89;DEA=105;QR=37;QA=37;PBP=403;PBM=403;TYPE=SNP;DBXREF=dbSNP:rs8640,g1000:0.5713,esp5400:0.3379,ExAC:0.3850,clinvar:rs8640,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:94591,GnomAD_AN_exome:246194,GnomAD_AC_genome:11435,GnomAD_AN_genome:30876,GnomAD:0.3827;SGVEP=FLNB|+|NM_001164317|45|c.7452C>T|p.(Ser2484:)|synonymous GT:DP:AD:DP4 0/1:92:56,36:28,28,18,18 3 58155562 106258607 C T 263 off_target VARTYPE=1;BGN=0.00140598;ARL=245;DER=86;DEA=36;QR=35;QA=36;PBP=111;PBM=157;TYPE=SNP;DBXREF=dbSNP:rs76686684,g1000:0.0256,esp5400:0.0439,ExAC:0.0460,GnomAD_AC_exome:10921,GnomAD_AN_exome:223154,GnomAD_AC_genome:1423,GnomAD_AN_genome:30872,GnomAD:0.0486;SGVEP=FLNB|+|NM_001164317|46|c.7714+42C>T|.|intronic GT:DP:AD:DP4 0/1:30:18,12:8,10,5,7 3 58179028 106268047 T C 220 off_target VARTYPE=1;BGN=0.00117154;ARL=220;DER=56;DEA=60;QR=37;QA=37;PBP=112;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs3732630,g1000:0.4135,esp5400:0.2885,ExAC:0.3640,GnomAD_AC_exome:89417,GnomAD_AN_exome:244916,GnomAD_AC_genome:9739,GnomAD_AN_genome:30826,GnomAD:0.3596;SGVEP=DNASE1L3|-|NM_001256560|6|c.711+42A>G|.|intronic GT:DP:AD:DP4 0/1:29:19,10:10,9,5,5 3 58186911 106270492 A G 797 off_target VARTYPE=1;BGN=0.00140598;ARL=237;DEA=38;QA=36;PBP=342;PBM=456;TYPE=SNP;DBXREF=dbSNP:rs4234389,g1000:0.8524,GnomAD_AC_genome:23654,GnomAD_AN_genome:30902,GnomAD:0.7655;SGVEP=DNASE1L3|-|NM_001256560|4|c.344-75T>C|.|intronic GT:DP:AD:DP4 1/1:28:0,28:0,0,12,16 3 58190481 106271427 C T 1101 off_target VARTYPE=1;BGN=0.00140598;ARL=224;DER=55;DEA=75;QR=37;QA=36;PBP=542;PBM=568;TYPE=SNP;DBXREF=dbSNP:rs376623875,esp5400:0.0001,ExAC:0.0003,GnomAD_AC_exome:68,GnomAD_AN_exome:245132,GnomAD:0.0003;SGVEP=DNASE1L3|-|NM_001256560|3|c.343+15G>A|.|intronic GT:DP:AD:DP4 0/1:83:36,47:18,18,23,24 3 58191242 106271727 C G 280 PASS VARTYPE=1;BGN=0.00117154;ARL=219;DER=101;DEA=111;QR=37;QA=37;PBP=130;PBM=156;TYPE=SNP;DBXREF=dbSNP:rs17058970,g1000:0.1116,esp5400:0.1480,ExAC:0.0900,GnomAD_AC_exome:21442,GnomAD_AN_exome:246114,GnomAD_AC_genome:4080,GnomAD_AN_genome:30946,GnomAD:0.0921;SGVEP=DNASE1L3|-|NM_004944|3|c.276G>C|p.(Arg92:)|synonymous GT:DP:AD:DP4 0/1:40:27,13:14,13,6,7 3 58194051 106272754 C A 407 off_target VARTYPE=1;BGN=0.00117154;ARL=229;DER=30;DEA=104;QR=37;QA=37;PBP=220;PBM=193;TYPE=SNP;DBXREF=dbSNP:rs3732631,g1000:0.2708,esp5400:0.2831,ExAC:0.3150,GnomAD_AC_exome:79321,GnomAD_AN_exome:245994,GnomAD_AC_genome:8975,GnomAD_AN_genome:30930,GnomAD:0.3188;SGVEP=DNASE1L3|-|NM_001256560|2|c.142-18G>T|.|intronic GT:DP:AD:DP4 0/1:33:16,17:8,8,9,8 3 58196639 106273734 C T 888 off_target VARTYPE=1;BGN=0.00117154;ARL=224;DER=58;DEA=63;QR=37;QA=37;PBP=426;PBM=472;TYPE=SNP;DBXREF=dbSNP:rs2292677,g1000:0.2728,esp5400:0.2856,ExAC:0.3150,GnomAD_AC_exome:79028,GnomAD_AN_exome:244622,GnomAD_AC_genome:9035,GnomAD_AN_genome:30888,GnomAD:0.3196;SGVEP=DNASE1L3|-|NM_001256560|1|c.-6G>A|.|5'UTR GT:DP:AD:DP4 0/1:100:60,40:29,31,19,21 3 58414415 106351689 CCT C 136 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=261;DER=22;DEA=50;QR=36;QA=76;PBP=71;PBM=70;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs143575120,g1000:0.1192,GnomAD_AC_genome:4061,GnomAD_AN_genome:30930,GnomAD:0.1313;SGVEP=PDHB|-|NM_000925|9|c.793-76_793-75del|.|intronic GT:DP:AD:DP4 0/1:19:13,6:6,7,3,3 3 58415590 106352423 C A 349 off_target VARTYPE=1;BGN=0.00140598;ARL=261;DER=53;DEA=72;QR=37;QA=36;PBP=190;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs2070662,g1000:0.7404,ExAC:0.7630,GnomAD_AC_exome:185903,GnomAD_AN_exome:242308,GnomAD_AC_genome:22546,GnomAD_AN_genome:30926,GnomAD:0.7629;SGVEP=PDHB|-|NM_000925|8|c.701-64G>T|.|intronic GT:DP:AD:DP4 0/1:29:14,15:7,7,8,7 3 58416538 76295 T C 10000 PASS VARTYPE=1;BGN=0.00117154;ARL=214;DEA=95;QA=37;PBP=1810;PBM=1705;TYPE=SNP;DBXREF=dbSNP:rs4264746,g1000:0.9848,esp5400:0.9785,ExAC:0.9950,GnomAD_AC_exome:245285,GnomAD_AN_exome:246270,GnomAD_AC_genome:30497,GnomAD_AN_genome:30970,GnomAD:0.9947;SGVEP=PDHB|-|NM_000925|6|c.435A>G|p.(Arg145:)|synonymous GT:DP:AD:DP4 1/1:122:0,121:0,0,62,59 3 60000052 107102460 C T 406 off_target VARTYPE=1;BGN=0.00168734;ARL=263;DER=39;DEA=59;QR=37;QA=35;PBP=195;PBM=216;TYPE=SNP;DBXREF=dbSNP:rs17061792,g1000:0.1530,GnomAD_AC_genome:4782,GnomAD_AN_genome:30952,GnomAD:0.1545;SGVEP=FHIT|-|NM_001166243|6|c.104-174G>A|.|intronic GT:DP:AD:DP4 0/1:26:9,17:4,5,8,9 3 62358566 108324122 C A 480 off_target VARTYPE=1;BGN=0.00117154;ARL=236;DER=61;DEA=75;QR=34;QA=37;PBP=208;PBM=280;TYPE=SNP;DBXREF=dbSNP:rs372640039,g1000:0.0094,esp5400:0.0018,ExAC:0.0047,GnomAD_AC_exome:293,GnomAD_AN_exome:27210,GnomAD_AC_genome:211,GnomAD_AN_genome:30924,GnomAD:0.0087;SGVEP=FEZF2|-|NM_018008|2|c.-23G>T|.|5'UTR GT:DP:AD:DP4 0/1:77:54,23:27,27,10,13 3 63898360 109041340 G GGCAGCAGCA 1882 PASS VARTYPE=1;BGN=0.000976189;ARL=215;DER=91;DEA=86;QR=34;QA=319;PBP=1009;PBM=892;TYPE=INDEL;DBXREF=dbSNP:rs576518931,ExAC:0.0032,GnomAD_AC_exome:221,GnomAD_AN_exome:10220,GnomAD_AC_genome:786,GnomAD_AN_genome:24358,GnomAD:0.0291;SGVEP=ATXN7|+|NM_000333|3|c.110_118dup|p.(Gln37_Gln39dup)|inframe_9 GT:DP:AD:DP4 0/1:301:193,89:99,94,47,42 3 63981635 76311 C T 1366 PASS VARTYPE=1;BGN=0.00168734;ARL=230;DER=107;DEA=108;QR=35;QA=35;PBP=676;PBM=701;TYPE=SNP;DBXREF=dbSNP:rs3733125,g1000:0.0905,esp5400:0.0753,ExAC:0.0960,clinvar:rs3733125,CLNSIG:Likely_benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:23723,GnomAD_AN_exome:245762,GnomAD_AC_genome:3329,GnomAD_AN_genome:30948,GnomAD:0.0978;SGVEP=ATXN7|+|NM_000333|12|c.2137C>T|p.(Leu713:)|synonymous GT:DP:AD:DP4 0/1:129:66,63:33,33,31,32 3 63982082 76313 G A 1374 PASS VARTYPE=1;BGN=0.00117154;ARL=221;DER=97;DEA=86;QR=37;QA=37;PBP=670;PBM=716;TYPE=SNP;DBXREF=dbSNP:rs3774729,g1000:0.4377,esp5400:0.3940,ExAC:0.3470,PhyloP:-0.4670,SIFT:0.0880,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0280,LRT:0.9990,MutationTaster:0.0010,GERP:-1.6100,clinvar:rs3774729,CLNSIG:Likely_benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:84495,GnomAD_AN_exome:245948,GnomAD_AC_genome:12733,GnomAD_AN_genome:30822,GnomAD:0.3513;SGVEP=ATXN7|+|NM_000333|12|c.2584G>A|p.(Val862Met)|missense GT:DP:AD:DP4 0/1:130:70,60:34,36,29,31 3 64133350 76324 A G 2652 PASS VARTYPE=1;BGN=0.00117154;ARL=226;DEA=70;QA=37;PBP=1257;PBM=1403;TYPE=SNP;DBXREF=dbSNP:rs27673,g1000:0.9838,esp5400:0.9842,ExAC:0.9940,clinvar:rs27673,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:241543,GnomAD_AN_exome:242712,GnomAD_AC_genome:30581,GnomAD_AN_genome:30956,GnomAD:0.9944;SGVEP=PRICKLE2|-|NM_198859|7|c.816T>C|p.(Asp272:)|synonymous GT:DP:AD:DP4 1/1:91:0,91:0,0,43,48 3 64142859 76328 C T 1251 PASS VARTYPE=1;BGN=0.00117154;ARL=211;DER=54;DEA=57;QR=37;QA=37;PBP=667;PBM=595;TYPE=SNP;DBXREF=dbSNP:rs17720698,g1000:0.1849,esp5400:0.2445,ExAC:0.2020,clinvar:rs17720698,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:49362,GnomAD_AN_exome:245578,GnomAD_AC_genome:7884,GnomAD_AN_genome:30930,GnomAD:0.2070;SGVEP=PRICKLE2|-|NM_198859|5|c.579G>A|p.(Pro193:)|synonymous GT:DP:AD:DP4 0/1:123:68,55:35,33,29,26 3 64145493 109153031 G A 157 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=255;DER=30;DEA=50;QR=34;QA=36;PBP=91;PBM=70;SP=0;TYPE=SNP;DBXREF=dbSNP:rs11720610,g1000:0.3005,GnomAD_AC_genome:11341,GnomAD_AN_genome:30906,GnomAD:0.3670;SGVEP=PRICKLE2|-|NM_198859|4|c.396+123C>T|.|intronic GT:DP:AD:DP4 0/1:17:10,7:6,4,4,3 3 64145510 109153043 G A 425 off_target VARTYPE=1;BGN=0.00117154;ARL=250;DER=28;DEA=50;QR=36;QA=37;PBP=211;PBM=220;TYPE=SNP;DBXREF=dbSNP:rs76720468,g1000:0.0891,GnomAD_AC_genome:4766,GnomAD_AN_genome:30944,GnomAD:0.1540;SGVEP=PRICKLE2|-|NM_198859|4|c.396+106C>T|.|intronic GT:DP:AD:DP4 0/1:37:19,18:11,8,9,9 3 64145759 76336 T C 832 off_target VARTYPE=1;BGN=0.00117154;ARL=231;DER=58;DEA=45;QR=36;QA=37;PBP=422;PBM=420;TYPE=SNP;DBXREF=dbSNP:rs2306380,g1000:0.3023,esp5400:0.3570,ExAC:0.3350,clinvar:rs2306380,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:82144,GnomAD_AN_exome:246084,GnomAD_AC_genome:11385,GnomAD_AN_genome:30894,GnomAD:0.3377;SGVEP=PRICKLE2|-|NM_198859|4|c.259-6A>G|.|intronic GT:DP:AD:DP4 0/1:101:63,38:31,32,19,19 3 69928509 76354 C T 1490 PASS VARTYPE=1;BGN=0.00117154;ARL=224;DER=91;DEA=74;QR=37;QA=37;PBP=684;PBM=819;TYPE=SNP;DBXREF=dbSNP:rs190215588,g1000:0.0002,esp5400:0.0003,ExAC:0.0001,PhyloP:2.8650,SIFT:0.9960,PolyPhen2:0.0400,PolyPhen2_HumDiv:0.5380,LRT:1.0000,MutationTaster:1.0000,GERP:6.0200,clinvar:rs190215588,CLNSIG:Uncertain_significance,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:40,GnomAD_AN_exome:245500,GnomAD_AC_genome:4,GnomAD_AN_genome:30976,GnomAD:0.0002;SGVEP=MITF|+|NM_001184967|2|c.173C>T|p.(Thr58Met)|missense GT:DP:AD:DP4 0/1:120:57,63:29,28,29,34 3 69985838 111384386 G A 424 off_target VARTYPE=1;BGN=0.00117154;ARL=231;DER=37;DEA=76;QR=37;QA=37;PBP=227;PBM=203;TYPE=SNP;DBXREF=dbSNP:rs77588960,g1000:0.0198,esp5400:0.0158,ExAC:0.0150,clinvar:rs77588960,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:3349,GnomAD_AN_exome:244702,GnomAD_AC_genome:410,GnomAD_AN_genome:30944,GnomAD:0.0136;SGVEP=MITF|+|NM_001184967|3|c.199-1135G>A|.|intronic GT:DP:AD:DP4 0/1:28:11,17:6,5,9,8 3 70014447 111389407 T C 290 off_target VARTYPE=1;BGN=0.00168734;ARL=236;DER=65;DEA=29;QR=36;QA=35;PBP=125;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs9863910,g1000:0.1014,esp5400:0.1301,ExAC:0.0890,clinvar:rs9863910,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:21082,GnomAD_AN_exome:240532,GnomAD_AC_genome:3555,GnomAD_AN_genome:30952,GnomAD:0.0907;SGVEP=MITF|+|NM_000248|9|c.*48T>C|.|3'UTR GT:DP:AD:DP4 0/1:37:23,14:11,12,6,8 3 71015021 76379 G T 1762 off_target VARTYPE=1;BGN=0.00140598;ARL=250;DEA=58;QA=36;PBP=996;PBM=769;TYPE=SNP;DBXREF=dbSNP:rs7638391,g1000:0.9746,esp5400:0.9406,ExAC:0.9450,clinvar:rs7638391,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:232746,GnomAD_AN_exome:246210,GnomAD_AC_genome:29343,GnomAD_AN_genome:30924,GnomAD:0.9457;SGVEP=FOXP1|-|NM_001244808|20|c.1886+20C>A|.|intronic GT:DP:AD:DP4 1/1:62:0,62:0,0,35,27 3 71247576 111822519 A T 277 low_coverage;off_target VARTYPE=1;BGN=0.00243023;ARL=197;DEA=36;QA=33;PBP=209;PBM=72;SP=5;TYPE=SNP;DBXREF=dbSNP:rs9855825,g1000:0.6216,esp5400:0.6660,ExAC:0.7190,GnomAD_AC_genome:16387,GnomAD_AN_genome:23040,GnomAD:0.7112;SGVEP=FOXP1|-|NM_001012505|6|c.-11-33T>A|.|intronic GT:DP:AD:DP4 1/1:12:0,11:0,0,8,3 3 75986874 113685547 G C 907 off_target VARTYPE=1;BGN=0.00117154;ARL=267;DEA=28;QA=37;PBP=439;PBM=468;TYPE=SNP;DBXREF=dbSNP:rs7610755,g1000:0.9848;SGVEP=ROBO2|+|NM_001128929|2|c.109+121G>C|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,15,16 3 77607070 114262791 ACC ACCC 184 off_target VARTYPE=1;BGN=0.0134795;ARL=210;DER=56;DEA=36;QR=37;QA=37;HL=2;PBP=93;PBM=96;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs760478456,g1000:0.8047,ExAC:0.7540,GnomAD_AC_exome:185885,GnomAD_AN_exome:244684,GnomAD_AC_genome:23190,GnomAD_AN_genome:30796,GnomAD:0.7589;SGVEP=ROBO2|+|NM_001128929|10|c.1280-23dupC|.|intronic GT:DP:AD:DP4 0/1:29:15,14:8,7,7,7 3 77623904 114271708 T C 896 off_target VARTYPE=1;BGN=0.000976189;ARL=243;DER=45;DEA=46;QR=35;QA=38;PBP=442;PBM=462;TYPE=SNP;DBXREF=dbSNP:rs143689930,g1000:0.0060,esp5400:0.0087,ExAC:0.0082,GnomAD_AC_exome:1934,GnomAD_AN_exome:238326,GnomAD_AC_genome:288,GnomAD_AN_genome:30928,GnomAD:0.0083;SGVEP=ROBO2|+|NM_001128929|15|c.2251+23T>C|.|intronic GT:DP:AD:DP4 0/1:57:22,35:10,12,17,18 3 78663656 114735949 C T 314 low_coverage;off_target VARTYPE=1;BGN=0.00140598;ARL=274;DEA=47;QA=36;PBP=200;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs2872005,g1000:0.2949,GnomAD_AC_genome:10072,GnomAD_AN_genome:30886,GnomAD:0.3261;SGVEP=ROBO1|-|NM_001145845|26|c.4135+142G>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,7,4 3 78663956 114736227 G A 1564 off_target VARTYPE=1;BGN=0.00140598;ARL=206;DEA=36;QA=36;PBP=712;PBM=854;TYPE=SNP;DBXREF=dbSNP:rs1027832,g1000:0.3534,esp5400:0.3533,ExAC:0.3830,GnomAD_AC_exome:79706,GnomAD_AN_exome:175140,GnomAD_AC_genome:10232,GnomAD_AN_genome:27154,GnomAD:0.4446;SGVEP=ROBO1|-|NM_001145845|26|c.3983-6C>T|.|intronic GT:DP:AD:DP4 1/1:55:0,55:0,0,25,30 3 78666765 114736758 T C 2420 off_target VARTYPE=1;BGN=0.00117154;ARL=222;DEA=49;QA=37;PBP=1257;PBM=1169;TYPE=SNP;DBXREF=dbSNP:rs9839790,g1000:0.5755,esp5400:0.6255,ExAC:0.6160,GnomAD_AC_exome:133030,GnomAD_AN_exome:213530,GnomAD_AC_genome:18226,GnomAD_AN_genome:30850,GnomAD:0.6189;SGVEP=ROBO1|-|NM_001145845|25|c.3982+20A>G|.|intronic GT:DP:AD:DP4 1/1:83:0,83:0,0,43,40 3 78676422 114738448 G A 160 low_coverage;off_target VARTYPE=1;BGN=0.002025;ARL=263;DER=69;DEA=30;QR=38;QA=34;PBP=92;PBM=71;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7614084,g1000:0.3373,esp5400:0.3655,ExAC:0.3750,GnomAD_AC_exome:83027,GnomAD_AN_exome:210898,GnomAD_AC_genome:11349,GnomAD_AN_genome:30882,GnomAD:0.3903;SGVEP=ROBO1|-|NM_001145845|24|c.3575+49C>T|.|intronic GT:DP:AD:DP4 0/1:12:5,7:3,2,4,3 3 78676467 114738474 A G 1422 PASS VARTYPE=1;BGN=0.00140598;ARL=230;DEA=42;QA=36;PBP=712;PBM=712;TYPE=SNP;DBXREF=dbSNP:rs7636043,g1000:0.9698,esp5400:0.9744,ExAC:0.9640,GnomAD_AC_exome:233521,GnomAD_AN_exome:241700,GnomAD_AC_genome:30013,GnomAD_AN_genome:30968,GnomAD:0.9665;SGVEP=ROBO1|-|NM_001145845|24|c.3575+4T>C|.|splice_donor_+4 GT:DP:AD:DP4 1/1:50:0,50:0,0,25,25 3 78700901 114756162 G T 247 PASS VARTYPE=1;BGN=0.00140598;ARL=248;DER=49;DEA=69;QR=38;QA=36;PBP=136;PBM=116;TYPE=SNP;DBXREF=dbSNP:rs6795556,g1000:0.2167,esp5400:0.2187,ExAC:0.2220,GnomAD_AC_exome:53662,GnomAD_AN_exome:241300,GnomAD_AC_genome:6511,GnomAD_AN_genome:30934,GnomAD:0.2210;SGVEP=ROBO1|-|NM_001145845|18|c.2685C>A|p.(Thr895:)|synonymous GT:DP:AD:DP4 0/1:25:14,11:8,6,6,5 3 78706519 114758302 C T 138 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=261;DER=45;DEA=58;QR=36;QA=38;PBP=71;PBM=71;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9818170,g1000:0.2278,GnomAD_AC_genome:7055,GnomAD_AN_genome:30910,GnomAD:0.2282;SGVEP=ROBO1|-|NM_001145845|17|c.2335-100G>A|.|intronic GT:DP:AD:DP4 0/1:18:12,6:6,6,3,3 3 78717343 114762865 C T 877 PASS VARTYPE=1;BGN=0.00140598;ARL=204;DER=89;DEA=60;QR=37;QA=36;PBP=456;PBM=430;TYPE=SNP;DBXREF=dbSNP:rs2271151,g1000:0.2825,esp5400:0.2833,ExAC:0.2340,GnomAD_AC_exome:56850,GnomAD_AN_exome:245910,GnomAD_AC_genome:8373,GnomAD_AN_genome:30892,GnomAD:0.2356;SGVEP=ROBO1|-|NM_001145845|12|c.1632G>A|p.(Ser544:)|synonymous GT:DP:AD:DP4 0/1:81:42,39:21,21,20,19 3 78717508 114763032 G A 355 off_target VARTYPE=1;BGN=0.00117154;ARL=258;DER=80;DEA=86;QR=36;QA=37;PBP=180;PBM=180;TYPE=SNP;DBXREF=dbSNP:rs2255164,g1000:0.3816,GnomAD_AC_genome:14091,GnomAD_AN_genome:30874,GnomAD:0.4564;SGVEP=ROBO1|-|NM_001145845|12|c.1523-56C>T|.|intronic GT:DP:AD:DP4 0/1:22:8,14:4,4,7,7 3 78737962 114769091 G A 326 off_target VARTYPE=1;BGN=0.00117154;ARL=234;DER=48;DEA=44;QR=36;QA=37;PBP=156;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs967454,g1000:0.2939,esp5400:0.3796,ExAC:0.4080,GnomAD_AC_exome:87561,GnomAD_AN_exome:198032,GnomAD_AC_genome:11407,GnomAD_AN_genome:30910,GnomAD:0.4323;SGVEP=ROBO1|-|NM_001145845|8|c.938-40C>T|.|intronic GT:DP:AD:DP4 0/1:44:29,15:13,16,7,8 3 78796078 114784879 C A 386 off_target VARTYPE=1;BGN=0.00117154;ARL=194;DER=24;DEA=32;QR=35;QA=37;PBP=183;PBM=209;TYPE=SNP;DBXREF=dbSNP:rs2304503,g1000:0.4197,esp5400:0.4677,ExAC:0.4960,GnomAD_AC_exome:95729,GnomAD_AN_exome:190112,GnomAD_AC_genome:14534,GnomAD_AN_genome:30896,GnomAD:0.4989;SGVEP=ROBO1|-|NM_001145845|3|c.383-28G>T|.|intronic GT:DP:AD:DP4 0/1:41:24,17:12,12,8,9 3 81548209 115875860 T TAAG 538 off_target VARTYPE=1;BGN=0.000976189;ARL=252;DER=51;DEA=61;QR=38;QA=107;PBP=254;PBM=290;TYPE=INDEL;DBXREF=dbSNP:rs57067820,g1000:0.3121,GnomAD_AC_genome:9430,GnomAD_AN_genome:30818,GnomAD:0.3060;SGVEP=GBE1|-|NM_000158|15|c.2052+51_2052+52insCTT|.|intronic GT:DP:AD:DP4 0/1:35:11,21:6,5,10,11 3 81630214 115896403 G A 120 low_coverage;off_target VARTYPE=1;BGN=0.00243023;ARL=261;DER=24;DEA=5;QR=35;QA=33;PBP=61;PBM=63;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9870056,g1000:0.1090,GnomAD_AC_genome:4699,GnomAD_AN_genome:30808,GnomAD:0.1525;SGVEP=GBE1|-|NM_000158|11|c.1446+102C>T|.|intronic GT:DP:AD:DP4 0/1:15:9,6:5,4,3,3 3 81643167 115899314 T C 2014 PASS VARTYPE=1;BGN=0.00117154;ARL=208;DEA=54;QA=37;PBP=994;PBM=1024;TYPE=SNP;DBXREF=dbSNP:rs2172397,g1000:0.9836,esp5400:0.9804,ExAC:0.9690,PhyloP:1.4020,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0010,GERP:5.6500,GnomAD_AC_exome:174659,GnomAD_AN_exome:179074,GnomAD_AC_genome:30137,GnomAD_AN_genome:30966,GnomAD:0.9750;SGVEP=GBE1|-|NM_000158|8|c.1000A>G|p.(Ile334Val)|missense GT:DP:AD:DP4 1/1:69:0,69:0,0,34,35 3 81810516 115961212 C A 1091 off_target VARTYPE=1;BGN=0.00140598;ARL=209;DER=45;DEA=64;QR=36;QA=36;PBP=597;PBM=504;TYPE=SNP;DBXREF=dbSNP:rs9820490,g1000:0.0879,esp5400:0.1280,ExAC:0.1240,clinvar:rs9820490,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:29101,GnomAD_AN_exome:238856,GnomAD_AC_genome:3774,GnomAD_AN_genome:30900,GnomAD:0.1219;SGVEP=GBE1|-|NM_000158|1|c.143+10G>T|.|intronic GT:DP:AD:DP4 0/1:95:47,48:25,22,26,22 3 81810702 115961494 AGG AGGG 1182 off_target VARTYPE=1;BGN=0.0134795;ARL=226;DER=53;DEA=60;QR=37;QA=37;HL=2;PBP=590;PBM=597;TYPE=INDEL;DBXREF=dbSNP:rs55840733,g1000:0.9968,ExAC:0.9990,GnomAD_AC_exome:199696,GnomAD_AN_exome:199706,GnomAD_AC_genome:30921,GnomAD_AN_genome:30922,GnomAD:1.0000;SGVEP=GBE1|-|NM_000158|1|c.-35dupC|.|5'UTR GT:DP:AD:DP4 1/1:72:5,67:2,3,33,34 3 81810770 115961564 G A 142 off_target VARTYPE=1;BGN=0.00168734;ARL=259;DER=27;DEA=41;QR=33;QA=35;PBP=64;PBM=82;SP=0;TYPE=SNP;DBXREF=dbSNP:rs78982329,g1000:0.0889,ExAC:0.0550,GnomAD_AC_exome:9587,GnomAD_AN_exome:81504,GnomAD_AC_genome:3795,GnomAD_AN_genome:30842,GnomAD:0.1191;SGVEP=GBE1|-|NM_000158|1|c.-102C>T|.|5'UTR GT:DP:AD:DP4 0/1:22:15,7:6,9,3,4 3 87295049 76452 T C 841 PASS VARTYPE=1;BGN=0.000976189;ARL=224;DEA=68;QA=38;PBP=421;PBM=421;TYPE=SNP;DBXREF=dbSNP:rs11540913,g1000:0.8157,esp5400:0.8162,ExAC:0.9050,clinvar:rs11540913,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:223755,GnomAD_AN_exome:245216,GnomAD_AC_genome:25672,GnomAD_AN_genome:30902,GnomAD:0.9033;SGVEP=CHMP2B|+|NM_001244644|2|c.189T>C|p.(Thr63:)|synonymous GT:DP:AD:DP4 1/1:28:0,28:0,0,14,14 3 87313353 117796562 C T 361 low_coverage;off_target VARTYPE=1;BGN=0.000976189;ARL=249;DEA=45;QA=38;PBP=211;PBM=150;TYPE=SNP;DBXREF=dbSNP:rs4988462,g1000:0.2368,GnomAD_AC_genome:9573,GnomAD_AN_genome:30888,GnomAD:0.3099;SGVEP=POU1F1|-|NM_000306|3|c.439+85G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,7,5 3 89456555 118430966 T A 390 off_target VARTYPE=1;BGN=0.00140598;ARL=239;DER=53;DEA=56;QR=37;QA=36;PBP=187;PBM=210;TYPE=SNP;DBXREF=dbSNP:rs3792572,g1000:0.4050,esp5400:0.4716,ExAC:0.3870,GnomAD_AC_exome:92306,GnomAD_AN_exome:239752,GnomAD_AC_genome:14496,GnomAD_AN_genome:30838,GnomAD:0.3947;SGVEP=EPHA3|+|NM_005233|8|c.1697+34T>A|.|intronic GT:DP:AD:DP4 0/1:59:40,19:20,20,9,10 3 89480265 118435675 A G 484 off_target VARTYPE=1;BGN=0.00117154;ARL=230;DER=33;DEA=70;QR=37;QA=37;PBP=240;PBM=250;TYPE=SNP;DBXREF=dbSNP:rs12639506,g1000:0.1352,esp5400:0.1829,ExAC:0.2020,GnomAD_AC_exome:49773,GnomAD_AN_exome:237312,GnomAD_AC_genome:6516,GnomAD_AN_genome:30912,GnomAD:0.2099;SGVEP=EPHA3|+|NM_005233|13|c.2137-35A>G|.|intronic GT:DP:AD:DP4 0/1:37:17,20:10,7,10,10 3 89521509 118445068 C A 227 low_coverage;off_target VARTYPE=1;BGN=0.00117154;ARL=273;DER=33;DEA=62;QR=38;QA=37;PBP=129;PBM=102;TYPE=SNP;DBXREF=dbSNP:rs73139110,g1000:0.1296,GnomAD_AC_genome:6504,GnomAD_AN_genome:30916,GnomAD:0.2104;SGVEP=EPHA3|+|NM_005233|16|c.2691-105C>A|.|intronic GT:DP:AD:DP4 0/1:15:6,9:3,3,5,4 3 89521602 118445115 T TC 511 off_target VARTYPE=1;BGN=0.000976189;ARL=225;DER=56;DEA=86;QR=38;QA=38;PBP=270;PBM=248;TYPE=INDEL;DBXREF=dbSNP:rs112297761,g1000:0.1615,ExAC:0.2110,GnomAD_AC_exome:51871,GnomAD_AN_exome:243672,GnomAD_AC_genome:7518,GnomAD_AN_genome:30888,GnomAD:0.2163;SGVEP=EPHA3|+|NM_005233|16|c.2691-12_2691-11insC|.|intronic GT:DP:AD:DP4 0/1:43:22,21:12,10,11,10 3 89521693 118445220 T C 853 PASS VARTYPE=1;BGN=0.00117154;ARL=213;DER=89;DEA=105;QR=37;QA=37;PBP=391;PBM=471;TYPE=SNP;DBXREF=dbSNP:rs35124509,g1000:0.3912,esp5400:0.4681,ExAC:0.3760,PhyloP:0.2960,SIFT:0.7710,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:3.8400,GnomAD_AC_exome:91135,GnomAD_AN_exome:245876,GnomAD_AC_genome:14233,GnomAD_AN_genome:30860,GnomAD:0.3808;SGVEP=EPHA3|+|NM_005233|16|c.2770T>C|p.(Trp924Arg)|missense GT:DP:AD:DP4 0/1:80:43,37:22,21,17,20 3 89521725 118445280 T C 751 PASS VARTYPE=1;BGN=0.00117154;ARL=218;DER=80;DEA=97;QR=37;QA=37;PBP=378;PBM=381;TYPE=SNP;DBXREF=dbSNP:rs1054750,g1000:0.1296,esp5400:0.1862,ExAC:0.2000,GnomAD_AC_exome:50430,GnomAD_AN_exome:245506,GnomAD_AC_genome:6502,GnomAD_AN_genome:30928,GnomAD:0.2060;SGVEP=EPHA3|+|NM_005233|16|c.2802T>C|p.(Gly934:)|synonymous GT:DP:AD:DP4 0/1:65:33,32:17,16,16,16 3 89528461 118447071 A T 291 off_target VARTYPE=1;BGN=0.00140598;ARL=257;DER=46;DEA=56;QR=36;QA=36;PBP=148;PBM=148;TYPE=SNP;DBXREF=dbSNP:rs12631313,g1000:0.1651,GnomAD_AC_genome:7733,GnomAD_AN_genome:30932,GnomAD:0.2500;SGVEP=EPHA3|+|NM_005233|17|c.2847-86A>T|.|intronic GT:DP:AD:DP4 0/1:20:8,12:4,4,6,6 3 89528477 118447073 G A 410 off_target VARTYPE=1;BGN=0.00117154;ARL=251;DER=44;DEA=57;QR=30;QA=37;PBP=203;PBM=212;TYPE=SNP;DBXREF=dbSNP:rs12636710,g1000:0.1322,GnomAD_AC_genome:6683,GnomAD_AN_genome:30924,GnomAD:0.2161;SGVEP=EPHA3|+|NM_005233|17|c.2847-70G>A|.|intronic GT:DP:AD:DP4 0/1:24:8,16:5,3,8,8 3 93762155 118992026 T G 174 off_target VARTYPE=1;BGN=0.00118013;ARL=262;DER=31;DEA=37;QR=37;QA=37;PBP=90;PBM=89;SP=0;TYPE=SNP;DBXREF=dbSNP:rs536799852,g1000:0.0010,GnomAD_AC_genome:62,GnomAD_AN_genome:30840,GnomAD:0.0020;SGVEP=ARL13B|+|NM_001174150|7|c.1024+71T>G|.|intronic GT:DP:AD:DP4 0/1:25:17,8:8,9,4,4 3 97499654 120174223 T A 313 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=260;DEA=43;QA=36;PBP=142;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs10935082,g1000:0.8055,GnomAD_AC_genome:25203,GnomAD_AN_genome:30708,GnomAD:0.8207;SGVEP=ARL6|+|NM_001278293|4|c.254+127T>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 3 97806616 120286068 G A 1489 PASS VARTYPE=1;BGN=0.00118013;ARL=216;DEA=92;QA=37;PBP=731;PBM=760;TYPE=SNP;DBXREF=dbSNP:rs4518168,g1000:0.5234,esp5400:0.5149,ExAC:0.5090,PhyloP:0.1070,SIFT:0.7800,PolyPhen2:0.0100,PolyPhen2_HumDiv:0.0000,LRT:0.0830,MutationTaster:0.0000,GERP:1.4800,GnomAD_AC_exome:124050,GnomAD_AN_exome:244604,GnomAD_AC_genome:15720,GnomAD_AN_genome:30902,GnomAD:0.5073;SGVEP=OR5AC2|+|NM_054106|1|c.600G>A|p.(Met200Ile)|missense GT:DP:AD:DP4 1/1:51:0,51:0,0,25,26 3 97806999 120286819 T C 351 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=232;DEA=32;QA=37;PBP=176;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs6439602,g1000:0.8207,GnomAD_AC_genome:23340,GnomAD_AN_genome:30904,GnomAD:0.7552;SGVEP=OR5AC2|+|NM_054106|1|.|.|intergenic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 3 97983257 120370888 C G 455 PASS VARTYPE=1;BGN=0.00118013;ARL=223;DER=73;DEA=66;QR=37;QA=37;PBP=230;PBM=232;TYPE=SNP;DBXREF=dbSNP:rs2132894,g1000:0.7089,esp5400:0.7418,ExAC:0.6810,GnomAD_AC_exome:165046,GnomAD_AN_exome:245680,GnomAD_AC_genome:22493,GnomAD_AN_genome:30830,GnomAD:0.6782;SGVEP=OR5H6|+|NM_001005479|1|c.129C>G|p.(Leu43:)|synonymous GT:DP:AD:DP4 0/1:47:27,20:14,13,10,10 3 97983391 120371091 C T 336 PASS VARTYPE=1;BGN=0.00118013;ARL=213;DER=104;DEA=94;QR=38;QA=37;PBP=174;PBM=169;TYPE=SNP;DBXREF=dbSNP:rs2173236,g1000:0.3806,esp5400:0.6415,ExAC:0.4630,PhyloP:-1.2260,SIFT:0.9580,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:0.8660,MutationTaster:0.0000,GERP:-4.1500,GnomAD_AC_exome:112001,GnomAD_AN_exome:245352,GnomAD_AC_genome:15146,GnomAD_AN_genome:30818,GnomAD:0.4604;SGVEP=OR5H6|+|NM_001005479|1|c.263C>T|p.(Ser88Leu)|missense GT:DP:AD:DP4 0/1:53:37,16:17,20,8,8 3 97983487 120371232 TTGTAACCAC T 183 low_variant_fraction VARTYPE=1;BGN=0.000983543;ARL=227;DER=108;DEA=78;QR=37;QA=336;PBP=95;PBM=94;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs398062605,g1000:0.3171,GnomAD_AC_exome:106446,GnomAD_AN_exome:243716,GnomAD_AC_genome:12957,GnomAD_AN_genome:30652,GnomAD:0.4352;SGVEP=OR5H6|+|NM_001005479|1|c.369_377del|p.(Val124_Thr126del)|inframe_9 GT:DP:AD:DP4 0/1:72:62,10:30,32,5,5 3 97983561 120371352 G C 471 PASS VARTYPE=1;BGN=0.000983543;ARL=216;DER=109;DEA=57;QR=37;QA=38;PBP=240;PBM=238;TYPE=SNP;DBXREF=dbSNP:rs9289564,g1000:0.7047,esp5400:0.7396,ExAC:0.6800,PhyloP:-0.1170,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:1.2500,GnomAD_AC_exome:164697,GnomAD_AN_exome:245290,GnomAD_AC_genome:22495,GnomAD_AN_genome:30870,GnomAD:0.6778;SGVEP=OR5H6|+|NM_001005479|1|c.433G>C|p.(Ala145Pro)|missense GT:DP:AD:DP4 0/1:77:53,22:26,27,11,11 3 97983711 120371527 T C 381 PASS VARTYPE=1;BGN=0.000983543;ARL=217;DER=80;DEA=78;QR=37;QA=38;PBP=206;PBM=182;TYPE=SNP;DBXREF=dbSNP:rs9853887,g1000:0.6250,esp5400:0.6617,ExAC:0.6550,PhyloP:1.0060,SIFT:1.0000,PolyPhen2:0.9910,PolyPhen2_HumDiv:0.9990,LRT:1.0000,MutationTaster:1.0000,GERP:2.1900,GnomAD_AC_exome:156926,GnomAD_AN_exome:241562,GnomAD_AC_genome:20279,GnomAD_AN_genome:30828,GnomAD:0.6506;SGVEP=OR5H6|+|NM_001005479|1|c.583T>C|p.(Cys195Arg)|missense GT:DP:AD:DP4 0/1:50:33,17:17,16,9,8 3 97983942 120371802 A G 159 low_variant_fraction VARTYPE=1;BGN=0.00169904;ARL=213;DER=101;DEA=51;QR=37;QA=35;PBP=72;PBM=92;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9853906,g1000:0.6633,esp5400:0.6899,ExAC:0.6650,PhyloP:-0.6390,SIFT:0.9580,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.5590,MutationTaster:0.0000,GERP:-0.0364,GnomAD_AC_exome:161536,GnomAD_AN_exome:245218,GnomAD_AC_genome:21217,GnomAD_AN_genome:30842,GnomAD:0.6620;SGVEP=OR5H6|+|NM_001005479|1|c.814A>G|p.(Thr272Ala)|missense GT:DP:AD:DP4 0/1:46:37,9:18,19,4,5 3 97983981 120371852 G A 314 PASS VARTYPE=1;BGN=0.00118013;ARL=209;DER=90;DEA=93;QR=37;QA=37;PBP=148;PBM=172;TYPE=SNP;DBXREF=dbSNP:rs9871143,g1000:0.3181,esp5400:0.4496,ExAC:0.4420,PhyloP:1.2200,SIFT:0.7620,PolyPhen2:0.1600,PolyPhen2_HumDiv:0.0970,LRT:0.9530,MutationTaster:0.0000,GERP:2.1900,GnomAD_AC_exome:107582,GnomAD_AN_exome:245260,GnomAD_AC_genome:13168,GnomAD_AN_genome:30858,GnomAD:0.4373;SGVEP=OR5H6|+|NM_001005479|1|c.853G>A|p.(Asp285Asn)|missense GT:DP:AD:DP4 0/1:51:36,15:18,18,7,8 3 98304467 120473857 T C 1634 PASS VARTYPE=1;BGN=0.00118013;ARL=201;DEA=79;QA=37;PBP=818;PBM=818;TYPE=SNP;DBXREF=dbSNP:rs1729995,g1000:0.7540,esp5400:0.7472,ExAC:0.7060,clinvar:rs1729995,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:172910,GnomAD_AN_exome:246156,GnomAD_AC_genome:22971,GnomAD_AN_genome:30866,GnomAD:0.7071;SGVEP=CPOX|-|NM_000097|5|c.990A>G|p.(Glu330:)|synonymous GT:DP:AD:DP4 1/1:56:0,56:0,0,28,28 3 98489686 120504388 A G 512 off_target VARTYPE=1;BGN=0.00141601;ARL=206;DER=33;DEA=47;QR=37;QA=36;PBP=272;PBM=246;TYPE=SNP;DBXREF=dbSNP:rs1440153,g1000:0.3436,esp5400:0.4199,ExAC:0.3880,GnomAD_AC_exome:94115,GnomAD_AN_exome:244822,GnomAD_AC_genome:12748,GnomAD_AN_genome:30864,GnomAD:0.3876;SGVEP=ST3GAL6|+|NM_001271142|3|c.-239-37A>G|.|intronic GT:DP:AD:DP4 0/1:33:12,21:6,6,11,10 3 98491619 120505156 G T 736 off_target VARTYPE=1;BGN=0.00118013;ARL=232;DER=71;DEA=54;QR=36;QA=37;PBP=397;PBM=347;TYPE=SNP;DBXREF=dbSNP:rs2334230,g1000:0.3325,esp5400:0.4252,ExAC:0.3970,GnomAD_AC_exome:96493,GnomAD_AN_exome:243850,GnomAD_AC_genome:12935,GnomAD_AN_genome:30896,GnomAD:0.3983;SGVEP=ST3GAL6|+|NM_001271142|5|c.-91-38G>T|.|intronic GT:DP:AD:DP4 0/1:51:21,30:11,10,16,14 3 98501603 120507606 C G 762 off_target VARTYPE=1;BGN=0.00118013;ARL=241;DER=52;DEA=60;QR=37;QA=37;PBP=395;PBM=375;TYPE=SNP;DBXREF=dbSNP:rs828610,g1000:0.3948,GnomAD_AC_genome:9402,GnomAD_AN_genome:30924,GnomAD:0.3040;SGVEP=ST3GAL6|+|NM_001271142|7|c.78-2186C>G|.|intronic GT:DP:AD:DP4 0/1:71:38,33:20,18,17,16 3 98501760 120507649 TA TAAAA 10000 off_target VARTYPE=1;BGN=0.000983543;ARL=230;DER=30;DEA=108;QR=36;QA=110;PBP=1916;PBM=1886;TYPE=INDEL;DBXREF=dbSNP:rs146639808,g1000:0.9776,GnomAD_AC_genome:29910,GnomAD_AN_genome:30446,GnomAD:0.9824;SGVEP=ST3GAL6|+|NM_001271142|7|c.78-2028_78-2027insAAA|.|intronic GT:DP:AD:DP4 0/1:127:48,79:24,24,40,39 3 98501764 120507671 CAG C 2362 off_target VARTYPE=1;BGN=0.000983543;ARL=244;DEA=101;QA=72;PBP=1199;PBM=1169;TYPE=INDEL;DBXREF=dbSNP:rs376035059,g1000:0.9778,GnomAD_AC_genome:29982,GnomAD_AN_genome:30518,GnomAD:0.9824;SGVEP=ST3GAL6|+|NM_001271142|7|c.78-2024_78-2023del|.|intronic GT:DP:AD:DP4 1/1:79:0,79:0,0,40,39 3 98501769 120507683 C G 2213 off_target VARTYPE=1;BGN=0.00141601;ARL=244;DEA=98;QA=36;PBP=1137;PBM=1080;TYPE=SNP;DBXREF=dbSNP:rs150473963,g1000:0.9776,GnomAD_AC_genome:30015,GnomAD_AN_genome:30552,GnomAD:0.9824;SGVEP=ST3GAL6|+|NM_001271142|7|c.78-2020C>G|.|intronic GT:DP:AD:DP4 1/1:78:0,78:0,0,40,38 3 98501771 120507685 G C 2225 off_target VARTYPE=1;BGN=0.00118013;ARL=244;DEA=96;QA=37;PBP=1168;PBM=1065;TYPE=SNP;DBXREF=dbSNP:rs147484663,g1000:0.9776,GnomAD_AC_genome:30034,GnomAD_AN_genome:30572,GnomAD:0.9824;SGVEP=ST3GAL6|+|NM_001271142|7|c.78-2018G>C|.|intronic GT:DP:AD:DP4 1/1:78:0,77:0,0,40,37 3 98501772 120507687 T C 2215 off_target VARTYPE=1;BGN=0.00118013;ARL=244;DEA=94;QA=37;PBP=1110;PBM=1110;TYPE=SNP;DBXREF=dbSNP:rs139190327,g1000:0.9776,GnomAD_AC_genome:30060,GnomAD_AN_genome:30598,GnomAD:0.9824;SGVEP=ST3GAL6|+|NM_001271142|7|c.78-2017T>C|.|intronic GT:DP:AD:DP4 1/1:76:0,76:0,0,38,38 3 98501775 120507711 ATTACTC A 2362 off_target VARTYPE=1;BGN=0.000983543;ARL=244;DEA=92;QA=221;PBP=1199;PBM=1169;TYPE=INDEL;DBXREF=dbSNP:rs369211097,g1000:0.9774,GnomAD_AC_genome:30061,GnomAD_AN_genome:30600,GnomAD:0.9824;SGVEP=ST3GAL6|+|NM_001271142|7|c.78-2013_78-2008del|.|intronic GT:DP:AD:DP4 1/1:79:0,79:0,0,40,39 3 98503776 120508180 A G 414 off_target VARTYPE=1;BGN=0.00118013;ARL=237;DER=50;DEA=52;QR=36;QA=37;PBP=207;PBM=212;TYPE=SNP;DBXREF=dbSNP:rs999147,g1000:0.3091,esp5400:0.3638,ExAC:0.3530,GnomAD_AC_exome:85949,GnomAD_AN_exome:243816,GnomAD_AC_genome:11331,GnomAD_AN_genome:30908,GnomAD:0.3541;SGVEP=ST3GAL6|+|NM_001271142|7|c.78-13A>G|.|intronic GT:DP:AD:DP4 0/1:23:7,16:4,3,8,8 3 98503941 120508295 G A 285 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=253;DER=39;DEA=52;QR=37;QA=37;PBP=156;PBM=133;TYPE=SNP;DBXREF=dbSNP:rs62278486,g1000:0.3564,GnomAD_AC_genome:13412,GnomAD_AN_genome:30602,GnomAD:0.4383;SGVEP=ST3GAL6|+|NM_001271142|7|c.173+57G>A|.|intronic GT:DP:AD:DP4 0/1:16:5,11:3,2,6,5 3 100015146 121000988 G T 789 off_target VARTYPE=1;BGN=0.00118013;ARL=217;DER=43;DEA=55;QR=37;QA=37;PBP=414;PBM=382;TYPE=SNP;DBXREF=dbSNP:rs3772698,g1000:0.5166,esp5400:0.5019,ExAC:0.5470,GnomAD_AC_exome:114679,GnomAD_AN_exome:208620,GnomAD_AC_genome:15496,GnomAD_AN_genome:30836,GnomAD:0.5436;SGVEP=TBC1D23|+|NM_001199198|8|c.876+27G>T|.|intronic GT:DP:AD:DP4 0/1:46:15,31:7,8,16,15 3 100029159 121001824 A G 274 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=254;DER=20;DEA=27;QR=36;QA=37;PBP=139;PBM=139;TYPE=SNP;DBXREF=dbSNP:rs189134247,g1000:0.0008,GnomAD_AC_genome:122,GnomAD_AN_genome:30970,GnomAD:0.0039;SGVEP=TBC1D23|+|NM_001199198|14|c.1414-88A>G|.|intronic GT:DP:AD:DP4 1/1:12:2,10:1,1,5,5 3 100034849 121002128 A T 258 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=260;DER=57;DEA=39;QR=37;QA=38;PBP=129;PBM=133;TYPE=SNP;DBXREF=dbSNP:rs4928169,g1000:0.5168,GnomAD_AC_genome:15529,GnomAD_AN_genome:30906,GnomAD:0.5025;SGVEP=TBC1D23|+|NM_001199198|16|c.1599-94A>T|.|intronic GT:DP:AD:DP4 0/1:17:7,10:4,3,5,5 3 100473505 121146080 C T 768 PASS VARTYPE=1;BGN=0.00141601;ARL=223;DEA=109;QA=36;PBP=370;PBM=399;TYPE=SNP;DBXREF=dbSNP:rs10936352,g1000:0.2909,esp5400:0.3142,ExAC:0.3280,PhyloP:-1.2140,MutationTaster:1.0000,GERP:-9.5300,GnomAD_AC_exome:74025,GnomAD_AN_exome:211514,GnomAD_AC_genome:9486,GnomAD_AN_genome:30876,GnomAD:0.3445;SGVEP=ABI3BP|-|NM_015429|31|c.2748G>A|p.(Pro916:)|synonymous GT:DP:AD:DP4 1/1:27:0,27:0,0,13,14 3 100493422 121149384 G A 255 off_target VARTYPE=1;BGN=0.000983543;ARL=208;DER=43;DEA=29;QR=36;QA=38;PBP=141;PBM=119;TYPE=SNP;DBXREF=dbSNP:rs9846590,g1000:0.0984,esp5400:0.1374,ExAC:0.0880,GnomAD_AC_exome:16932,GnomAD_AN_exome:154368,GnomAD_AC_genome:3761,GnomAD_AN_genome:30930,GnomAD:0.1117;SGVEP=ABI3BP|-|NM_015429|28|c.2398+27C>T|.|intronic GT:DP:AD:DP4 0/1:29:18,11:10,8,6,5 3 100493607 121149437 T C 151 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=247;DER=30;DEA=73;QR=38;QA=38;PBP=77;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3736534,g1000:0.3159,GnomAD_AC_genome:8059,GnomAD_AN_genome:30920,GnomAD:0.2606;SGVEP=ABI3BP|-|NM_015429|28|c.2330-90A>G|.|intronic GT:DP:AD:DP4 0/1:12:6,6:3,3,3,3 3 100497098 121149795 C T 424 off_target VARTYPE=1;BGN=0.000983543;ARL=204;DER=59;DEA=44;QR=36;QA=38;PBP=228;PBM=204;TYPE=SNP;DBXREF=dbSNP:rs9877951,g1000:0.0933,esp5400:0.1332,ExAC:0.1110,GnomAD_AC_exome:26657,GnomAD_AN_exome:220484,GnomAD_AC_genome:3677,GnomAD_AN_genome:30910,GnomAD:0.1207;SGVEP=ABI3BP|-|NM_015429|26|c.2200+30G>A|.|intronic GT:DP:AD:DP4 0/1:56:37,19:19,18,10,9 3 100511428 121160105 G A 468 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=257;DER=0;DEA=36;QR=32;QA=38;PBP=231;PBM=240;TYPE=SNP;DBXREF=dbSNP:rs989793,g1000:0.4810,GnomAD_AC_genome:14198,GnomAD_AN_genome:30774,GnomAD:0.4614;SGVEP=ABI3BP|-|NM_015429|23|c.1966+107C>T|.|intronic GT:DP:AD:DP4 1/1:17:1,16:1,0,8,8 3 100511446 121160109 T A 490 off_target VARTYPE=1;BGN=0.00141601;ARL=254;DER=16;DEA=48;QR=32;QA=36;PBP=246;PBM=246;TYPE=SNP;DBXREF=dbSNP:rs989795,g1000:0.4818,GnomAD_AC_genome:14210,GnomAD_AN_genome:30806,GnomAD:0.4613;SGVEP=ABI3BP|-|NM_015429|23|c.1966+89A>T|.|intronic GT:DP:AD:DP4 1/1:20:2,18:1,1,9,9 3 100566571 121173223 A G 385 off_target VARTYPE=1;BGN=0.00169904;ARL=220;DER=38;DEA=41;QR=37;QA=35;PBP=149;PBM=243;TYPE=SNP;DBXREF=dbSNP:rs3806656,g1000:0.1603,esp5400:0.1373,GnomAD_AC_genome:4207,GnomAD_AN_genome:30914,GnomAD:0.1361;SGVEP=ABI3BP|-|NM_015429|17|c.1451-54T>C|.|intronic GT:DP:AD:DP4 0/1:41:23,18:11,12,7,11 3 100567592 121173501 T C 672 off_target VARTYPE=1;BGN=0.00141601;ARL=229;DER=43;DEA=42;QR=38;QA=36;PBP=353;PBM=326;TYPE=SNP;DBXREF=dbSNP:rs6773877,g1000:0.3177,esp5400:0.3203,GnomAD_AC_genome:10616,GnomAD_AN_genome:30928,GnomAD:0.3432;SGVEP=ABI3BP|-|NM_015429|16|c.1450+53A>G|.|intronic GT:DP:AD:DP4 0/1:39:12,27:6,6,14,13 3 100567799 121173711 C T 501 off_target VARTYPE=1;BGN=0.00141601;ARL=275;DER=37;DEA=72;QR=31;QA=36;PBP=239;PBM=267;TYPE=SNP;DBXREF=dbSNP:rs6807452,g1000:0.2686,GnomAD_AC_genome:9274,GnomAD_AN_genome:30874,GnomAD:0.3004;SGVEP=ABI3BP|-|NM_015429|16|c.1376-80G>A|.|intronic GT:DP:AD:DP4 1/1:23:4,19:2,2,9,10 3 100567811 121173715 A T 474 off_target VARTYPE=1;BGN=0.00141601;ARL=275;DER=25;DEA=63;QR=37;QA=36;PBP=211;PBM=267;TYPE=SNP;DBXREF=dbSNP:rs6771476,g1000:0.2686,GnomAD_AC_genome:9269,GnomAD_AN_genome:30864,GnomAD:0.3003;SGVEP=ABI3BP|-|NM_015429|16|c.1376-92T>A|.|intronic GT:DP:AD:DP4 1/1:22:4,18:2,2,8,10 3 100585618 . A C 168 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=252;DER=37;DEA=29;QR=36;QA=38;PBP=99;PBM=73;SP=0;TYPE=SNP;SGVEP=ABI3BP|-|NM_015429|10|c.1009+105T>G|.|intronic GT:DP:AD:DP4 0/1:17:10,7:5,5,4,3 3 100593659 121199331 T C 330 off_target VARTYPE=1;BGN=0.000983543;ARL=223;DER=34;DEA=54;QR=38;QA=38;PBP=154;PBM=181;TYPE=SNP;DBXREF=dbSNP:rs115069916,g1000:0.0112,esp5400:0.0252,ExAC:0.0190,GnomAD_AC_exome:5047,GnomAD_AN_exome:173070,GnomAD_AC_genome:775,GnomAD_AN_genome:30954,GnomAD:0.0285;SGVEP=ABI3BP|-|NM_015429|9|c.931+26A>G|.|intronic GT:DP:AD:DP4 0/1:23:10,13:5,5,6,7 3 100594326 121199726 CGGCATA C 780 off_target VARTYPE=1;BGN=0.000983543;ARL=256;DEA=92;QA=224;PBP=361;PBM=421;TYPE=INDEL;DBXREF=dbSNP:rs11278619,g1000:0.5296,ExAC:0.5810,GnomAD_AC_exome:143984,GnomAD_AN_exome:243886,GnomAD_AC_genome:17786,GnomAD_AN_genome:30534,GnomAD:0.5895;SGVEP=ABI3BP|-|NM_015429|8|c.838+20_838+25del|.|intronic GT:DP:AD:DP4 1/1:26:0,26:0,0,12,14 3 100605206 121204171 A G 1109 off_target VARTYPE=1;BGN=0.00141601;ARL=236;DEA=61;QA=36;PBP=541;PBM=569;TYPE=SNP;DBXREF=dbSNP:rs1987384,g1000:0.7286,esp5400:0.7719,ExAC:0.7850,GnomAD_AC_exome:90805,GnomAD_AN_exome:109760,GnomAD_AC_genome:23827,GnomAD_AN_genome:30886,GnomAD:0.8150;SGVEP=ABI3BP|-|NM_015429|5|c.483-39T>C|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,19,20 3 100617680 121207092 C T 696 PASS VARTYPE=1;BGN=0.00118013;ARL=198;DER=88;DEA=93;QR=37;QA=37;PBP=352;PBM=353;TYPE=SNP;DBXREF=dbSNP:rs2245370,g1000:0.7280,esp5400:0.5637,ExAC:0.6170,GnomAD_AC_exome:151671,GnomAD_AN_exome:245500,GnomAD_AC_genome:18780,GnomAD_AN_genome:30922,GnomAD:0.6166;SGVEP=ABI3BP|-|NM_015429|4|c.408G>A|p.(Ser136:)|synonymous GT:DP:AD:DP4 0/1:119:85,34:43,42,17,17 3 100621426 121207762 C A 1430 off_target VARTYPE=1;BGN=0.00118013;ARL=223;DEA=52;QA=37;PBP=702;PBM=731;TYPE=SNP;DBXREF=dbSNP:rs2576365,g1000:0.8826,esp5400:0.8325,ExAC:0.8750,GnomAD_AC_exome:212099,GnomAD_AN_exome:241026,GnomAD_AC_genome:25660,GnomAD_AN_genome:30950,GnomAD:0.8742;SGVEP=ABI3BP|-|NM_015429|3|c.349+36G>T|.|intronic GT:DP:AD:DP4 1/1:49:0,49:0,0,24,25 3 100712249 121226760 T C 366 PASS VARTYPE=1;BGN=0.000983543;ARL=226;DER=76;DEA=89;QR=38;QA=38;PBP=187;PBM=185;TYPE=SNP;DBXREF=dbSNP:rs3732895,g1000:0.2394,esp5400:0.1464,ExAC:0.1170,PhyloP:0.6420,SIFT:1.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.6140,MutationTaster:1.0000,GERP:3.7300,GnomAD_AC_exome:28985,GnomAD_AN_exome:152662,GnomAD_AC_genome:5328,GnomAD_AN_genome:30734,GnomAD:0.1871;SGVEP=ABI3BP|-|NM_015429|1|c.1A>G|p.(Met1?)|no-start GT:DP:AD:DP4 0/1:43:27,16:13,14,8,8 3 101038339 121321492 G A 342 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=257;DEA=75;QA=36;PBP=171;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs546090,g1000:0.7446,GnomAD_AC_genome:22736,GnomAD_AN_genome:30896,GnomAD:0.7359;SGVEP=IMPG2|-|NM_016247|2|c.334+89C>T|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 3 101039107 121322090 A C 964 off_target VARTYPE=1;BGN=0.00118013;ARL=230;DEA=45;QA=37;PBP=497;PBM=468;TYPE=SNP;DBXREF=dbSNP:rs573908,g1000:0.7382,esp5400:0.6992,ExAC:0.7730,GnomAD_AC_exome:186110,GnomAD_AN_exome:236554,GnomAD_AC_genome:22488,GnomAD_AN_genome:30840,GnomAD:0.7801;SGVEP=IMPG2|-|NM_016247|1|c.85+25T>G|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,17,16 3 101575882 121514148 T C 482 off_target VARTYPE=1;BGN=0.00169904;ARL=204;DER=39;DEA=44;QR=37;QA=35;PBP=302;PBM=189;NVF=0.41;TYPE=SNP;DBXREF=dbSNP:rs595788,esp5400:0.7865,GnomAD_AC_genome:22737,GnomAD_AN_genome:29500,GnomAD:0.7707;SGVEP=NFKBIZ|+|NM_001005474|11|c.1525-35T>C|.|intronic GT:DP:AD:DP4 0/1:83:58,25:29,29,15,10 3 101576029 121514189 T TACTTTTAGAAAGCTTTAATAACC 2486 PASS VARTYPE=1;BGN=0.000983543;ARL=221;DER=15;DEA=108;QR=35;QA=831;PBP=1154;PBM=1349;NVF=0.99;TYPE=INDEL;DBXREF=dbSNP:rs371844266,g1000:0.8113,ExAC:0.7810,GnomAD_AC_genome:24158,GnomAD_AN_genome:30900,GnomAD:0.7818;SGVEP=NFKBIZ|+|NM_001005474|11|c.1635+4_1635+5ins23|.|intronic GT:DP:AD:DP4 0/1:124:30,93:14,16,43,50 3 105412286 122731893 CT CTTT 1080 off_target VARTYPE=1;BGN=0.000983543;ARL=252;DER=5;DEA=57;QR=38;QA=75;PBP=541;PBM=541;TYPE=INDEL;DBXREF=dbSNP:rs397830010,g1000:0.9964,GnomAD_AC_genome:30836,GnomAD_AN_genome:30928,GnomAD:0.9970;SGVEP=CBLB|-|NM_001321786|13|c.2138+51_2138+52insAA|.|intronic GT:DP:AD:DP4 1/1:36:2,32:1,1,16,16 3 105422844 122735006 C T 1954 PASS VARTYPE=1;BGN=0.00118013;ARL=238;DEA=50;QA=37;PBP=1023;PBM=935;TYPE=SNP;DBXREF=dbSNP:rs2305037,g1000:0.7510,esp5400:0.7397,ExAC:0.7300,GnomAD_AC_exome:178805,GnomAD_AN_exome:246042,GnomAD_AC_genome:22149,GnomAD_AN_genome:30916,GnomAD:0.7256;SGVEP=CBLB|-|NM_001321786|11|c.1665G>A|p.(Thr555:)|synonymous GT:DP:AD:DP4 1/1:67:0,67:0,0,35,32 3 105423088 122735159 T C 935 off_target VARTYPE=1;BGN=0.00118013;ARL=265;DEA=36;QA=37;PBP=439;PBM=497;TYPE=SNP;DBXREF=dbSNP:rs1548056,g1000:0.9848,GnomAD_AC_genome:30567,GnomAD_AN_genome:30980,GnomAD:0.9867;SGVEP=CBLB|-|NM_001321786|11|c.1492-71A>G|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,15,17 3 105438806 122738068 G A 410 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=281;DEA=33;QA=37;PBP=263;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs7624400,g1000:0.8049,GnomAD_AC_genome:27015,GnomAD_AN_genome:30924,GnomAD:0.8736;SGVEP=CBLB|-|NM_001321786|10|c.1491+85C>T|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,9,5 3 105442943 122739032 T C 906 off_target VARTYPE=1;BGN=0.00118013;ARL=233;DEA=46;QA=37;PBP=468;PBM=439;TYPE=SNP;DBXREF=dbSNP:rs1561919,g1000:0.4427,GnomAD_AC_genome:15949,GnomAD_AN_genome:30878,GnomAD:0.5165;SGVEP=CBLB|-|NM_001321786|10|c.1288-3849A>G|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,16,15 3 105453034 122741006 A G 585 off_target VARTYPE=1;BGN=0.00118013;ARL=225;DEA=38;QA=37;PBP=322;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs6768096,g1000:0.9846,esp5400:0.9848,ExAC:0.9960,GnomAD_AC_exome:244579,GnomAD_AN_exome:245380,GnomAD_AC_genome:30565,GnomAD_AN_genome:30980,GnomAD:0.9956;SGVEP=CBLB|-|NM_001321786|9|c.1156-50T>C|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,11,9 3 105495432 122752277 G T 415 low_coverage;off_target VARTYPE=1;BGN=0.00169904;ARL=255;DEA=47;QA=35;PBP=221;PBM=194;TYPE=SNP;DBXREF=dbSNP:rs9809911,g1000:0.9844,esp5400:0.9852,ExAC:0.9960,GnomAD_AC_exome:243470,GnomAD_AN_exome:244274,GnomAD_AC_genome:30535,GnomAD_AN_genome:30950,GnomAD:0.9956;SGVEP=CBLB|-|NM_001321786|4|c.504-46C>A|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 3 105588069 122788844 G A 995 off_target VARTYPE=1;BGN=0.00141601;ARL=249;DEA=35;QA=36;PBP=512;PBM=484;TYPE=SNP;DBXREF=dbSNP:rs11711088,g1000:0.5599,GnomAD_AC_genome:20520,GnomAD_AN_genome:30862,GnomAD:0.6649;SGVEP=CBLB|-|NM_001321790|1|c.52+112C>T|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,18,17 3 111356083 124439988 G C 410 low_coverage VARTYPE=1;BGN=0.00118013;ARL=224;DEA=99;QA=37;PBP=205;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs1533270,g1000:0.9966,esp5400:0.9950,ExAC:0.9990,clinvar:rs1533270,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:245871,GnomAD_AN_exome:246086,GnomAD_AC_genome:30860,GnomAD_AN_genome:30982,GnomAD:0.9988;SGVEP=CD96|+|NM_005816|11|c.1362G>C|p.(Pro454:)|synonymous GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 3 112052173 124700994 T C 940 off_target VARTYPE=1;BGN=0.00169904;ARL=228;DEA=36;QA=35;PBP=388;PBM=553;TYPE=SNP;DBXREF=dbSNP:rs9883527,g1000:0.9651,GnomAD_AC_genome:30132,GnomAD_AN_genome:30944,GnomAD:0.9738;SGVEP=CD200|+|NM_001004196|1|c.12+102T>C|.|intronic GT:DP:AD:DP4 1/1:34:0,34:0,0,14,20 3 112059768 124701623 C G 840 PASS VARTYPE=1;BGN=0.000983543;ARL=190;DEA=80;QA=38;PBP=421;PBM=421;TYPE=SNP;DBXREF=dbSNP:rs1131199,g1000:0.6603,esp5400:0.6155,ExAC:0.5990,PhyloP:-0.2190,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9790,MutationTaster:0.9990,GERP:-0.6080,GnomAD_AC_exome:145168,GnomAD_AN_exome:245662,GnomAD_AC_genome:18784,GnomAD_AN_genome:30914,GnomAD:0.5928;SGVEP=CD200|+|NM_001004196|3|c.107C>G|p.(Ser36Cys)|missense GT:DP:AD:DP4 1/1:28:0,28:0,0,14,14 3 112066360 124702308 C T 443 low_coverage;off_target VARTYPE=1;BGN=0.00169904;ARL=272;DEA=69;QA=35;PBP=277;PBM=166;TYPE=SNP;DBXREF=dbSNP:rs7612748,g1000:0.1494,esp5400:0.2458,ExAC:0.2270,GnomAD_AC_exome:53063,GnomAD_AN_exome:239238,GnomAD_AC_genome:7271,GnomAD_AN_genome:30912,GnomAD:0.2233;SGVEP=CD200|+|NM_001004196|5|c.497-45C>T|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,10,6 3 112991196 124977154 C G 1194 off_target VARTYPE=1;BGN=0.00141601;ARL=224;DEA=34;QA=36;PBP=654;PBM=541;TYPE=SNP;DBXREF=dbSNP:rs3930154,g1000:0.5288,GnomAD_AC_genome:15660,GnomAD_AN_genome:30800,GnomAD:0.5084;SGVEP=BOC|+|NM_001301861|7|c.668-61C>G|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,23,19 3 112991842 124977594 A G 350 off_target VARTYPE=1;BGN=0.00118013;ARL=279;DER=108;DEA=85;QR=38;QA=37;PBP=203;PBM=152;TYPE=SNP;DBXREF=dbSNP:rs11717833,g1000:0.2987,GnomAD_AC_genome:7161,GnomAD_AN_genome:30762,GnomAD:0.2328;SGVEP=BOC|+|NM_001301861|8|c.962-74A>G|.|intronic GT:DP:AD:DP4 0/1:23:9,14:5,4,8,6 3 112991959 124977698 C T 1561 PASS VARTYPE=1;BGN=0.00118013;ARL=229;DER=83;DEA=96;QR=37;QA=37;PBP=868;PBM=706;TYPE=SNP;DBXREF=dbSNP:rs11710894,g1000:0.2987,esp5400:0.1905,ExAC:0.2530,GnomAD_AC_exome:64469,GnomAD_AN_exome:243750,GnomAD_AC_genome:7137,GnomAD_AN_genome:30874,GnomAD:0.2607;SGVEP=BOC|+|NM_001301861|8|c.1005C>T|p.(Pro335:)|synonymous GT:DP:AD:DP4 0/1:125:59,66:29,30,36,30 3 112997554 124979113 A G 2387 PASS VARTYPE=1;BGN=0.00118013;ARL=217;DER=74;DEA=88;QR=37;QA=37;PBP=1242;PBM=1164;TYPE=SNP;DBXREF=dbSNP:rs775228,g1000:0.6204,esp5400:0.5478,ExAC:0.4590,GnomAD_AC_exome:92670,GnomAD_AN_exome:177050,GnomAD_AC_genome:17765,GnomAD_AN_genome:30758,GnomAD:0.5314;SGVEP=BOC|+|NM_001301861|11|c.1740A>G|p.(Lys580:)|synonymous GT:DP:AD:DP4 0/1:207:104,103:52,52,53,50 3 112998090 124979191 T C 1032 off_target VARTYPE=1;BGN=0.00118013;ARL=217;DER=47;DEA=66;QR=33;QA=37;PBP=540;PBM=501;TYPE=SNP;DBXREF=dbSNP:rs3856720,g1000:0.2622,esp5400:0.1530,ExAC:0.2450,GnomAD_AC_exome:63258,GnomAD_AN_exome:245742,GnomAD_AC_genome:6192,GnomAD_AN_genome:30810,GnomAD:0.2511;SGVEP=BOC|+|NM_001301861|12|c.1817-6T>C|.|intronic GT:DP:AD:DP4 0/1:70:28,42:16,12,22,20 3 112998265 124979258 A G 1031 PASS VARTYPE=1;BGN=0.00118013;ARL=202;DER=75;DEA=82;QR=36;QA=37;PBP=532;PBM=509;TYPE=SNP;DBXREF=dbSNP:rs2649878,g1000:0.5587,esp5400:0.4642,ExAC:0.4190,GnomAD_AC_exome:102857,GnomAD_AN_exome:245898,GnomAD_AC_genome:15135,GnomAD_AN_genome:30890,GnomAD:0.4263;SGVEP=BOC|+|NM_001301861|12|c.1986A>G|p.(Pro662:)|synonymous GT:DP:AD:DP4 0/1:98:53,45:27,26,23,22 3 113003595 124983901 G C 686 off_target VARTYPE=1;BGN=0.00118013;ARL=235;DER=81;DEA=76;QR=36;QA=37;PBP=331;PBM=363;TYPE=SNP;DBXREF=dbSNP:rs775222,g1000:0.2650,esp5400:0.1586,ExAC:0.2440,GnomAD_AC_exome:63257,GnomAD_AN_exome:246010,GnomAD_AC_genome:6292,GnomAD_AN_genome:30876,GnomAD:0.2512;SGVEP=BOC|+|NM_001301861|18|c.2890-34G>C|.|intronic GT:DP:AD:DP4 0/1:57:28,29:15,13,14,15 3 113004093 124984138 G A 202 low_coverage;off_target VARTYPE=1;BGN=0.00169904;ARL=263;DER=39;DEA=38;QR=38;QA=35;PBP=112;PBM=95;SP=0;TYPE=SNP;DBXREF=dbSNP:rs41271357,g1000:0.3253,GnomAD_AC_genome:7955,GnomAD_AN_genome:30896,GnomAD:0.2575;SGVEP=BOC|+|NM_001301861|19|c.2967-126G>A|.|intronic GT:DP:AD:DP4 0/1:18:9,9:6,3,5,4 3 113005754 124985085 A T 106 off_target VARTYPE=1;BGN=0.000983543;ARL=217;DER=41;DEA=30;QR=35;QA=38;PBP=44;PBM=69;SP=0;TYPE=SNP;DBXREF=dbSNP:rs5022662,g1000:0.4639,esp5400:0.0699,ExAC:0.3570,GnomAD_AC_exome:57840,GnomAD_AN_exome:124828,GnomAD_AC_genome:8747,GnomAD_AN_genome:25180,GnomAD:0.4439;SGVEP=BOC|+|NM_001301861|20|c.*45A>T|.|3'UTR GT:DP:AD:DP4 0/1:22:15,5:8,7,2,3 3 113849907 125258008 CACTTA C 432 off_target VARTYPE=1;BGN=0.000983543;ARL=244;DER=19;DEA=57;QR=38;QA=189;PBP=247;PBM=190;TYPE=INDEL;DBXREF=dbSNP:rs377277597,g1000:0.0917,GnomAD_AC_genome:2401,GnomAD_AN_genome:30944,GnomAD:0.0776;SGVEP=DRD3|-|NM_000796|6|c.1006+53_1006+57del|.|intronic GT:DP:AD:DP4 0/1:22:6,16:3,3,9,7 3 113858350 125259631 C T 1489 PASS VARTYPE=1;BGN=0.00118013;ARL=225;DEA=74;QA=37;PBP=789;PBM=702;TYPE=SNP;DBXREF=dbSNP:rs2251177,g1000:0.9579,esp5400:0.9550,ExAC:0.9850,clinvar:rs2251177,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:242497,GnomAD_AN_exome:245500,GnomAD_AC_genome:29853,GnomAD_AN_genome:30952,GnomAD:0.9852;SGVEP=DRD3|-|NM_000796|5|c.720G>A|p.(Gln240:)|synonymous GT:DP:AD:DP4 1/1:51:0,51:0,0,27,24 3 113890815 76606 C T 908 PASS VARTYPE=1;BGN=0.00118013;ARL=219;DER=77;DEA=62;QR=34;QA=37;PBP=381;PBM=538;TYPE=SNP;DBXREF=dbSNP:rs6280,g1000:0.5136,esp5400:0.5333,ExAC:0.5850,PhyloP:-0.1710,SIFT:0.2940,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.8160,MutationTaster:0.0000,GERP:-1.4800,clinvar:rs6280,CLNSIG:Likely_benign|risk_factor,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:93648,GnomAD_AN_exome:148920,GnomAD_AC_genome:17250,GnomAD_AN_genome:30880,GnomAD:0.6168;SGVEP=DRD3|-|NM_000796|2|c.25G>A|p.(Gly9Ser)|missense GT:DP:AD:DP4 0/1:91:51,40:26,25,17,23 3 113955164 125289860 T G 131 low_variant_fraction VARTYPE=1;BGN=0.000983543;ARL=237;DER=76;DEA=68;QR=36;QA=38;PBP=58;PBM=79;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3732782,g1000:0.6941,esp5400:0.6981,ExAC:0.6560,PhyloP:0.3210,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:2.1400,GnomAD_AC_exome:160312,GnomAD_AN_exome:245910,GnomAD_AC_genome:21300,GnomAD_AN_genome:30898,GnomAD:0.6561;SGVEP=ZNF80|-|NM_007136|1|c.758A>C|p.(Asp253Ala)|missense GT:DP:AD:DP4 0/1:49:42,7:20,22,3,4 3 113955187 125289864 A C 190 low_variant_fraction VARTYPE=1;BGN=0.000983543;ARL=235;DER=85;DEA=66;QR=36;QA=38;PBP=100;PBM=97;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3732781,g1000:0.1855,esp5400:0.2037,ExAC:0.2500,PhyloP:-0.8990,MutationTaster:0.9940,GERP:-2.2000,GnomAD_AC_exome:62700,GnomAD_AN_exome:246192,GnomAD_AC_genome:6652,GnomAD_AN_genome:30944,GnomAD:0.2502;SGVEP=ZNF80|-|NM_007136|1|c.735T>G|p.(Tyr245*)|nonsense GT:DP:AD:DP4 0/1:62:52,10:24,28,5,5 3 113955265 125289940 G A 567 PASS VARTYPE=1;BGN=0.00118013;ARL=230;DER=108;DEA=70;QR=36;QA=37;PBP=297;PBM=278;TYPE=SNP;DBXREF=dbSNP:rs6438190,g1000:0.6931,esp5400:0.6981,ExAC:0.6560,GnomAD_AC_exome:160545,GnomAD_AN_exome:246254,GnomAD_AC_genome:21282,GnomAD_AN_genome:30870,GnomAD:0.6561;SGVEP=ZNF80|-|NM_007136|1|c.657C>T|p.(Cys219:)|synonymous GT:DP:AD:DP4 0/1:86:59,27:31,28,14,13 3 113955320 125289981 C T 1019 PASS VARTYPE=1;BGN=0.00141601;ARL=222;DER=108;DEA=75;QR=35;QA=36;PBP=529;PBM=500;TYPE=SNP;DBXREF=dbSNP:rs6438191,g1000:0.6927,esp5400:0.6980,ExAC:0.6560,PhyloP:-0.2120,SIFT:0.6880,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:0.3510,GnomAD_AC_exome:160520,GnomAD_AN_exome:246228,GnomAD_AC_genome:21325,GnomAD_AN_genome:30906,GnomAD:0.6562;SGVEP=ZNF80|-|NM_007136|1|c.602G>A|p.(Arg201His)|missense GT:DP:AD:DP4 0/1:111:64,47:31,33,24,23 3 118931389 126670534 C T 1052 off_target VARTYPE=1;BGN=0.00118013;ARL=203;DEA=49;QA=37;PBP=526;PBM=526;TYPE=SNP;DBXREF=dbSNP:rs6784208,g1000:0.9036,esp5400:0.9117,ExAC:0.9280,GnomAD_AC_exome:204717,GnomAD_AN_exome:220880,GnomAD_AC_genome:28428,GnomAD_AN_genome:30964,GnomAD:0.9258;SGVEP=B4GALT4|-|NM_003778|8|c.*7G>A|.|3'UTR GT:DP:AD:DP4 1/1:36:0,36:0,0,18,18 3 118948618 126679346 G C 167 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=272;DER=81;DEA=26;QR=38;QA=37;PBP=99;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4422293,g1000:0.2276,GnomAD_AC_genome:7731,GnomAD_AN_genome:30916,GnomAD:0.2501;SGVEP=B4GALT4|-|NM_003778|3|c.253+76C>G|.|intronic GT:DP:AD:DP4 0/1:15:8,7:4,4,4,3 3 118948716 126679437 G A 538 PASS VARTYPE=1;BGN=0.00118013;ARL=238;DER=86;DEA=78;QR=35;QA=37;PBP=258;PBM=287;TYPE=SNP;DBXREF=dbSNP:rs4422294,g1000:0.1933,esp5400:0.2191,ExAC:0.2550,GnomAD_AC_exome:64120,GnomAD_AN_exome:246016,GnomAD_AC_genome:6676,GnomAD_AN_genome:30922,GnomAD:0.2556;SGVEP=B4GALT4|-|NM_003778|3|c.231C>T|p.(Cys77:)|synonymous GT:DP:AD:DP4 0/1:48:25,23:13,12,11,12 3 119118104 126739661 A G 541 low_coverage VARTYPE=1;BGN=0.000983543;ARL=241;DEA=104;QA=38;PBP=270;PBM=270;TYPE=SNP;DBXREF=dbSNP:rs4688001,g1000:1.0000,ExAC:1.0000,clinvar:rs4688001,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:246168,GnomAD_AN_exome:246176,GnomAD_AC_genome:30976,GnomAD_AN_genome:30976,GnomAD:1.0000;SGVEP=ARHGAP31|+|NM_020754|9|c.1065A>G|p.(Val355:)|synonymous GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 3 119120577 126740099 G C 361 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=278;DEA=37;QA=38;PBP=210;PBM=150;TYPE=SNP;DBXREF=dbSNP:rs10511390,g1000:0.2849,GnomAD_AC_genome:9415,GnomAD_AN_genome:30892,GnomAD:0.3048;SGVEP=ARHGAP31|+|NM_020754|10|c.1070-92G>C|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,7,5 3 119128628 126741792 A G 2099 PASS VARTYPE=1;BGN=0.00118013;ARL=213;DEA=50;QA=37;PBP=1023;PBM=1081;TYPE=SNP;DBXREF=dbSNP:rs1463139,g1000:0.6338,esp5400:0.6390,ExAC:0.6050,clinvar:rs1463139,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:133156,GnomAD_AN_exome:213474,GnomAD_AC_genome:20051,GnomAD_AN_genome:30814,GnomAD:0.6272;SGVEP=ARHGAP31|+|NM_020754|11|c.1926+5A>G|.|intronic GT:DP:AD:DP4 1/1:72:0,72:0,0,35,37 3 119128634 126741807 T C 1902 off_target VARTYPE=1;BGN=0.00141601;ARL=212;DEA=47;QA=36;PBP=910;PBM=995;TYPE=SNP;DBXREF=dbSNP:rs1463138,g1000:0.4649,esp5400:0.4522,ExAC:0.5020,clinvar:rs1463138,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:108859,GnomAD_AN_exome:207014,GnomAD_AC_genome:14956,GnomAD_AN_genome:30810,GnomAD:0.5206;SGVEP=ARHGAP31|+|NM_020754|11|c.1926+11T>C|.|intronic GT:DP:AD:DP4 1/1:67:0,67:0,0,32,35 3 119128710 126741842 A T 207 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=236;DER=17;DEA=29;QR=37;QA=37;PBP=78;PBM=133;SP=0;TYPE=SNP;DBXREF=dbSNP:rs74369586,g1000:0.1200,GnomAD_AC_genome:4304,GnomAD_AN_genome:30932,GnomAD:0.1391;SGVEP=ARHGAP31|+|NM_020754|11|c.1926+87A>T|.|intronic GT:DP:AD:DP4 0/1:12:4,8:2,2,3,5 3 119133183 126742838 G A 1139 PASS VARTYPE=1;BGN=0.00118013;ARL=239;DEA=101;QA=37;PBP=526;PBM=614;TYPE=SNP;DBXREF=dbSNP:rs3732413,g1000:0.8456,esp5400:0.8287,ExAC:0.8080,PhyloP:-3.0540,SIFT:0.3650,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.5030,MutationTaster:0.0000,GERP:-10.1000,clinvar:rs3732413,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:197990,GnomAD_AN_exome:245852,GnomAD_AC_genome:25815,GnomAD_AN_genome:30904,GnomAD:0.8087;SGVEP=ARHGAP31|+|NM_020754|12|c.2407G>A|p.(Gly803Ser)|missense GT:DP:AD:DP4 1/1:39:0,39:0,0,18,21 3 119501780 126874170 G A 541 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=261;DEA=54;QA=36;PBP=256;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs2472668,g1000:0.8838,GnomAD_AC_genome:27746,GnomAD_AN_genome:30934,GnomAD:0.8969;SGVEP=NR1I2|+|NM_022002|1|c.95+81G>A|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,9,10 3 119501798 126874176 T A 313 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=268;DEA=62;QA=36;PBP=142;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs2461831,g1000:0.9798,GnomAD_AC_genome:30211,GnomAD_AN_genome:30956,GnomAD:0.9759;SGVEP=NR1I2|+|NM_022002|1|c.95+99T>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 3 119526349 126884051 G A 421 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=246;DEA=46;QA=38;PBP=210;PBM=210;TYPE=SNP;DBXREF=dbSNP:rs1464603,g1000:0.4800,GnomAD_AC_genome:15548,GnomAD_AN_genome:30918,GnomAD:0.5029;SGVEP=NR1I2|+|NM_022002|2|c.314+55G>A|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 3 119529113 126884630 G T 853 off_target VARTYPE=1;BGN=0.00141601;ARL=254;DEA=55;QA=36;PBP=370;PBM=484;TYPE=SNP;DBXREF=dbSNP:rs3732356,g1000:0.8508,GnomAD_AC_genome:26897,GnomAD_AN_genome:30856,GnomAD:0.8717;SGVEP=NR1I2|+|NM_022002|3|c.448+72G>T|.|intronic GT:DP:AD:DP4 1/1:30:0,30:0,0,13,17 3 119533733 126886389 G A 388 low_coverage;off_target VARTYPE=1;BGN=0.00169904;ARL=273;DEA=74;QA=35;PBP=249;PBM=138;TYPE=SNP;DBXREF=dbSNP:rs6785049,g1000:0.4014,GnomAD_AC_genome:13971,GnomAD_AN_genome:30814,GnomAD:0.4534;SGVEP=NR1I2|+|NM_022002|6|c.912-93G>A|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,9,5 3 119533773 126886408 T C 949 off_target VARTYPE=1;BGN=0.00118013;ARL=251;DEA=59;QA=37;PBP=572;PBM=380;TYPE=SNP;DBXREF=dbSNP:rs6797879,g1000:0.8928,GnomAD_AC_genome:28077,GnomAD_AN_genome:30910,GnomAD:0.9083;SGVEP=NR1I2|+|NM_022002|6|c.912-53T>C|.|intronic GT:DP:AD:DP4 1/1:34:0,33:0,0,20,13 3 119533910 126886568 T C 3005 PASS VARTYPE=1;BGN=0.00118013;ARL=231;DEA=95;QA=37;PBP=1489;PBM=1529;TYPE=SNP;DBXREF=dbSNP:rs4058490,g1000:0.9994,esp5400:0.9996,ExAC:1.0000,GnomAD_AC_exome:246221,GnomAD_AN_exome:246242,GnomAD_AC_genome:30923,GnomAD_AN_genome:30926,GnomAD:0.9999;SGVEP=NR1I2|+|NM_022002|6|c.996T>C|p.(Asn332:)|synonymous GT:DP:AD:DP4 1/1:105:0,104:0,0,51,53 3 120360331 127101800 T C 447 off_target VARTYPE=1;BGN=0.00169904;ARL=269;DER=59;DEA=52;QR=33;QA=35;PBP=195;PBM=259;TYPE=SNP;DBXREF=dbSNP:rs804971,g1000:0.7113,GnomAD_AC_genome:24663,GnomAD_AN_genome:30898,GnomAD:0.7982;SGVEP=HGD|-|NM_000187|11|c.879+105A>G|.|intronic GT:DP:AD:DP4 0/1:24:6,18:4,2,8,10 3 120369575 127104478 T G 552 off_target VARTYPE=1;BGN=0.00118013;ARL=223;DER=33;DEA=44;QR=36;QA=37;PBP=277;PBM=281;TYPE=SNP;DBXREF=dbSNP:rs3817627,g1000:0.6034,esp5400:0.5684,ExAC:0.6560,GnomAD_AC_exome:162291,GnomAD_AN_exome:245962,GnomAD_AC_genome:18160,GnomAD_AN_genome:30910,GnomAD:0.6517;SGVEP=HGD|-|NM_000187|6|c.434+46A>C|.|intronic GT:DP:AD:DP4 0/1:35:13,22:7,6,11,11 3 120371369 127104973 G A 264 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=230;DER=77;DEA=30;QR=38;QA=36;PBP=148;PBM=121;TYPE=SNP;DBXREF=dbSNP:rs1054095,g1000:0.2989,esp5400:0.2001,GnomAD_AC_genome:6839,GnomAD_AN_genome:30850,GnomAD:0.2217;SGVEP=HGD|-|NM_000187|5|c.342+70C>T|.|intronic GT:DP:AD:DP4 0/1:19:8,11:4,4,6,5 3 120371414 127104999 G A 1194 off_target VARTYPE=1;BGN=0.00141601;ARL=213;DEA=56;QA=36;PBP=626;PBM=569;TYPE=SNP;DBXREF=dbSNP:rs2551607,g1000:0.8311,esp5400:0.8098,ExAC:0.8890,GnomAD_AC_exome:219896,GnomAD_AN_exome:245184,GnomAD_AC_genome:25801,GnomAD_AN_genome:30876,GnomAD:0.8900;SGVEP=HGD|-|NM_000187|5|c.342+25C>T|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,22,20 3 120389316 127108961 T A 2243 PASS VARTYPE=1;BGN=0.000983543;ARL=218;DEA=81;QA=38;PBP=1169;PBM=1080;TYPE=SNP;DBXREF=dbSNP:rs2255543,g1000:0.7316,esp5400:0.7448,ExAC:0.7350,PhyloP:-0.3000,SIFT:0.2380,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:-2.2300,clinvar:rs2255543,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:182257,GnomAD_AN_exome:246064,GnomAD_AC_genome:22823,GnomAD_AN_genome:30886,GnomAD:0.7405;SGVEP=HGD|-|NM_000187|4|c.240A>T|p.(Gln80His)|missense GT:DP:AD:DP4 1/1:75:0,75:0,0,39,36 3 120389491 127109087 A G 187 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=279;DER=57;DEA=70;QR=38;QA=36;PBP=95;PBM=95;SP=0;TYPE=SNP;DBXREF=dbSNP:rs17140269,g1000:0.4251,GnomAD_AC_genome:14131,GnomAD_AN_genome:30892,GnomAD:0.4574;SGVEP=HGD|-|NM_000187|4|c.177-112T>C|.|intronic GT:DP:AD:DP4 0/1:16:8,8:4,4,4,4 3 120394604 127110103 T A 433 off_target VARTYPE=1;BGN=0.000983543;ARL=209;DER=66;DEA=52;QR=36;QA=38;PBP=218;PBM=221;TYPE=SNP;DBXREF=dbSNP:rs2733825,g1000:0.1114,esp5400:0.1393,ExAC:0.1580,GnomAD_AC_exome:38617,GnomAD_AN_exome:245266,GnomAD_AC_genome:4361,GnomAD_AN_genome:30932,GnomAD:0.1556;SGVEP=HGD|-|NM_000187|2|c.87+35A>T|.|intronic GT:DP:AD:DP4 0/1:39:21,18:11,10,9,9 3 121489439 127484934 TAAA TAA 531 off_target VARTYPE=1;BGN=0.017025;ARL=234;DER=50;DEA=67;QR=36;QA=37;HL=3;PBP=263;PBM=275;TYPE=INDEL;DBXREF=dbSNP:rs148949254,g1000:0.1208,ExAC:0.1440,clinvar:rs148949254,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:35109,GnomAD_AN_exome:243456,GnomAD_AC_genome:3450,GnomAD_AN_genome:30940,GnomAD:0.1405;SGVEP=IQCB1|-|NM_001023570|15|c.1568-19del|.|intronic GT:DP:AD:DP4 0/1:70:29,41:14,15,20,21 3 121500479 127488015 T TACAC 121 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=274;DER=31;DEA=50;QR=38;QA=133;PBP=48;PBM=77;SP=0;NVF=0.53;TYPE=INDEL;DBXREF=dbSNP:rs763528797,GnomAD_AC_genome:4451,GnomAD_AN_genome:29054,GnomAD:0.1532;SGVEP=IQCB1|-|NM_001023570|13|c.1410+107_1410+110dup|.|intronic GT:DP:AD:DP4 0/1:12:2,5:1,1,2,3 3 121500479 127488034 TACACACACACACAC T 121 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=274;DER=31;DEA=44;QR=38;QA=525;PBP=77;PBM=48;SP=1;NVF=0.29;TYPE=INDEL;DBXREF=dbSNP:rs149985093,GnomAD_AC_genome:7792,GnomAD_AN_genome:29054,GnomAD:0.2682;SGVEP=IQCB1|-|NM_001023570|13|c.1410+97_1410+110del|.|intronic GT:DP:AD:DP4 0/1:12:2,5:1,1,3,2 3 121500699 127488157 C T 1045 PASS VARTYPE=1;BGN=0.00118013;ARL=211;DER=63;DEA=71;QR=36;QA=37;PBP=514;PBM=540;TYPE=SNP;DBXREF=dbSNP:rs17849995,g1000:0.3027,esp5400:0.2352,ExAC:0.2890,PhyloP:1.2980,SIFT:0.9190,PolyPhen2:0.8620,PolyPhen2_HumDiv:0.9940,LRT:1.0000,MutationTaster:0.4580,GERP:3.7400,clinvar:rs17849995,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:73922,GnomAD_AN_exome:246140,GnomAD_AC_genome:7604,GnomAD_AN_genome:30820,GnomAD:0.2944;SGVEP=IQCB1|-|NM_001023570|13|c.1301G>A|p.(Cys434Tyr)|missense GT:DP:AD:DP4 0/1:93:48,45:24,24,22,23 3 121508830 127489247 A T 425 off_target VARTYPE=1;BGN=0.00118013;ARL=263;DER=53;DEA=41;QR=37;QA=37;PBP=212;PBM=218;TYPE=SNP;DBXREF=dbSNP:rs6802815,g1000:0.6210,GnomAD_AC_genome:19595,GnomAD_AN_genome:30810,GnomAD:0.6360;SGVEP=IQCB1|-|NM_001023570|11|c.1129+90T>A|.|intronic GT:DP:AD:DP4 0/1:21:5,16:3,2,8,8 3 121526204 76668 G A 122 PASS VARTYPE=1;BGN=0.00118013;ARL=225;DER=81;DEA=56;QR=37;QA=37;PBP=63;PBM=63;SP=0;TYPE=SNP;DBXREF=dbSNP:rs4543051,g1000:0.6200,esp5400:0.6488,ExAC:0.6270,clinvar:rs4543051,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:154405,GnomAD_AN_exome:245468,GnomAD_AC_genome:19552,GnomAD_AN_genome:30724,GnomAD:0.6298;SGVEP=IQCB1|-|NM_001023570|7|c.574C>T|p.(Leu192:)|synonymous GT:DP:AD:DP4 0/1:26:20,6:10,10,3,3 3 121712051 76679 A C 1069 PASS VARTYPE=1;BGN=0.00141601;ARL=224;DER=93;DEA=92;QR=35;QA=36;PBP=612;PBM=467;TYPE=SNP;DBXREF=dbSNP:rs2877561,g1000:0.7849,esp5400:0.7493,ExAC:0.7320,clinvar:rs2877561,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:176255,GnomAD_AN_exome:242830,GnomAD_AC_genome:23141,GnomAD_AN_genome:30894,GnomAD:0.7285;SGVEP=ILDR1|-|NM_001199799|7|c.1545T>G|p.(Leu515:)|synonymous GT:DP:AD:DP4 0/1:102:54,48:28,26,27,21 3 121712980 127561324 C T 424 off_target VARTYPE=1;BGN=0.00118013;ARL=247;DER=118;DEA=74;QR=36;QA=37;PBP=217;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs3915060,g1000:0.7833,ExAC:0.6410,GnomAD_AC_exome:94722,GnomAD_AN_exome:132432,GnomAD_AC_genome:23678,GnomAD_AN_genome:30876,GnomAD:0.7250;SGVEP=ILDR1|-|NM_001199799|6|c.778+49G>A|.|intronic GT:DP:AD:DP4 0/1:37:19,18:9,10,9,9 3 121724038 127564198 G A 143 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=233;DER=56;DEA=83;QR=35;QA=37;PBP=72;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3942629,g1000:0.1464,GnomAD_AC_genome:5997,GnomAD_AN_genome:30786,GnomAD:0.1948;SGVEP=ILDR1|-|NM_001199799|3|c.379+53C>T|.|intronic GT:DP:AD:DP4 0/1:13:7,6:4,3,3,3 3 121810427 127585845 CTTTTTTTTT CTTTTTTTT 318 off_target VARTYPE=1;BGN=0.104463;ARL=216;DEA=69;QA=37;HL=9;PBP=162;PBM=162;TYPE=INDEL;DBXREF=dbSNP:rs63114861,g1000:0.9946,ExAC:0.9990,GnomAD_AC_exome:243292,GnomAD_AN_exome:243592,GnomAD_AC_genome:30617,GnomAD_AN_genome:30776,GnomAD:0.9983;SGVEP=CD86|+|NM_001206924|2|c.15-12del|.|intronic GT:DP:AD:DP4 1/1:42:0,40:0,0,20,20 3 121825197 127590053 G A 2422 PASS VARTYPE=1;BGN=0.000983543;ARL=212;DEA=73;QA=38;PBP=1259;PBM=1169;TYPE=SNP;DBXREF=dbSNP:rs2681417,g1000:0.8680,esp5400:0.8453,ExAC:0.9140,PhyloP:-0.2600,SIFT:0.7210,PolyPhen2:0.0120,PolyPhen2_HumDiv:0.0090,LRT:0.5890,MutationTaster:0.0000,GERP:-1.9000,GnomAD_AC_exome:226472,GnomAD_AN_exome:245882,GnomAD_AC_genome:26792,GnomAD_AN_genome:30946,GnomAD:0.9149;SGVEP=CD86|+|NM_001206924|3|c.217G>A|p.(Val73Ile)|missense GT:DP:AD:DP4 1/1:81:0,81:0,0,42,39 3 121836966 127593586 TGA T 1001 off_target VARTYPE=1;BGN=0.000983543;ARL=221;DER=1;DEA=70;QR=36;QA=71;PBP=528;PBM=498;TYPE=INDEL;DBXREF=dbSNP:rs373110329,g1000:1.0000,ExAC:1.0000,GnomAD_AC_exome:242603,GnomAD_AN_exome:242608,GnomAD_AC_genome:30968,GnomAD_AN_genome:30968,GnomAD:1.0000;SGVEP=CD86|+|NM_001206924|5|c.557+34_557+35del|.|intronic GT:DP:AD:DP4 1/1:39:2,35:1,1,18,17 3 121838319 127594006 G A 312 PASS VARTYPE=1;BGN=0.00118013;ARL=201;DER=74;DEA=110;QR=36;QA=37;PBP=160;PBM=158;TYPE=SNP;DBXREF=dbSNP:rs1129055,g1000:0.3427,esp5400:0.2334,ExAC:0.3050,PhyloP:1.3010,SIFT:0.8690,PolyPhen2:0.6380,PolyPhen2_HumDiv:0.9320,LRT:0.5830,MutationTaster:0.0000,GERP:3.2000,GnomAD_AC_exome:73855,GnomAD_AN_exome:245676,GnomAD_AC_genome:8157,GnomAD_AN_genome:30942,GnomAD:0.2965;SGVEP=CD86|+|NM_001206924|6|c.592G>A|p.(Ala198Thr)|missense GT:DP:AD:DP4 0/1:37:23,14:11,12,7,7 3 121976253 76745 G A 1285 off_target VARTYPE=1;BGN=0.00118013;ARL=228;DEA=71;QA=37;PBP=643;PBM=643;TYPE=SNP;DBXREF=dbSNP:rs9869985,g1000:0.9219,esp5400:0.9112,ExAC:0.9430,clinvar:rs9869985,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:230930,GnomAD_AN_exome:243282,GnomAD_AC_genome:28173,GnomAD_AN_genome:30938,GnomAD:0.9449;SGVEP=CASR|+|NM_000388|3|c.492+19G>A|.|intronic GT:DP:AD:DP4 1/1:44:0,44:0,0,22,22 3 121980242 127662789 T C 481 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=279;DEA=64;QA=38;PBP=270;PBM=210;TYPE=SNP;DBXREF=dbSNP:rs3749207,g1000:0.5397,GnomAD_AC_genome:17328,GnomAD_AN_genome:30882,GnomAD:0.5611;SGVEP=CASR|+|NM_000388|4|c.493-133T>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,9,7 3 122003045 76811 G C 2823 PASS VARTYPE=1;BGN=0.00118013;ARL=230;DEA=102;QA=37;PBP=1430;PBM=1401;TYPE=SNP;DBXREF=dbSNP:rs2036400,g1000:0.9728,esp5400:0.9714,ExAC:0.9920,clinvar:rs2036400,CLNSIG:Benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:243776,GnomAD_AN_exome:245352,GnomAD_AC_genome:30148,GnomAD_AN_genome:30954,GnomAD:0.9914;SGVEP=CASR|+|NM_000388|7|c.2244G>C|p.(Pro748:)|synonymous GT:DP:AD:DP4 1/1:97:0,97:0,0,49,48 3 122003832 76839 G C 2910 PASS VARTYPE=1;BGN=0.00118013;ARL=233;DEA=94;QA=37;PBP=1372;PBM=1547;TYPE=SNP;DBXREF=dbSNP:rs1801726,g1000:0.9241,esp5400:0.9163,ExAC:0.9450,PhyloP:1.4760,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:5.7900,clinvar:rs1801726,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:233911,GnomAD_AN_exome:246200,GnomAD_AC_genome:28323,GnomAD_AN_genome:30962,GnomAD:0.9461;SGVEP=CASR|+|NM_000388|7|c.3031G>C|p.(Glu1011Gln)|missense GT:DP:AD:DP4 1/1:100:0,100:0,0,47,53 3 122004098 127675279 A T 553 off_target VARTYPE=1;BGN=0.00169904;ARL=240;DER=10;DEA=61;QR=9;QA=35;PBP=249;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs4677948,g1000:0.9201,clinvar:rs4677948,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:28187,GnomAD_AN_genome:30910,GnomAD:0.9119;SGVEP=CASR|+|NM_000388|7|c.*60A>T|.|3'UTR GT:DP:AD:DP4 1/1:20:0,20:0,0,9,11 3 122056432 127693089 C T 960 PASS VARTYPE=1;BGN=0.000983543;ARL=209;DEA=104;QA=38;PBP=451;PBM=511;TYPE=SNP;DBXREF=dbSNP:rs17589,g1000:0.3928,esp5400:0.5077,ExAC:0.4960,GnomAD_AC_exome:123043,GnomAD_AN_exome:246044,GnomAD_AC_genome:15164,GnomAD_AN_genome:30902,GnomAD:0.4990;SGVEP=CSTA|+|NM_005213|2|c.105C>T|p.(Tyr35:)|synonymous GT:DP:AD:DP4 1/1:32:0,32:0,0,15,17 3 122145810 127741819 T A 1896 PASS VARTYPE=1;BGN=0.00118013;ARL=230;DEA=59;QA=37;PBP=935;PBM=964;TYPE=SNP;DBXREF=dbSNP:rs4677950,g1000:0.9780,esp5400:0.9725,ExAC:0.9920,GnomAD_AC_exome:242572,GnomAD_AN_exome:244046,GnomAD_AC_genome:30280,GnomAD_AN_genome:30972,GnomAD:0.9921;SGVEP=KPNA1|-|NM_002264|14|c.*22A>T|.|3'UTR GT:DP:AD:DP4 1/1:65:0,65:0,0,32,33 3 122168341 127749500 C A 481 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=238;DEA=50;QA=38;PBP=270;PBM=210;TYPE=SNP;DBXREF=dbSNP:rs3749209,g1000:0.4938,GnomAD_AC_genome:15871,GnomAD_AN_genome:30876,GnomAD:0.5140;SGVEP=KPNA1|-|NM_002264|9|c.917+80G>T|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,9,7 3 122186141 127755387 A G 176 off_target VARTYPE=1;BGN=0.00118013;ARL=219;DER=36;DEA=63;QR=36;QA=37;PBP=90;PBM=90;SP=0;TYPE=SNP;DBXREF=dbSNP:rs75578364,g1000:0.0565,esp5400:0.0925,ExAC:0.0990,GnomAD_AC_exome:22614,GnomAD_AN_exome:222494,GnomAD_AC_genome:2682,GnomAD_AN_genome:30930,GnomAD:0.0998;SGVEP=KPNA1|-|NM_002264|3|c.237+28T>C|.|intronic GT:DP:AD:DP4 0/1:24:16,8:8,8,4,4 3 122186188 127755439 C T 1140 PASS VARTYPE=1;BGN=0.000983543;ARL=196;DEA=76;QA=38;PBP=571;PBM=571;TYPE=SNP;DBXREF=dbSNP:rs4678193,g1000:0.9938,esp5400:0.9927,ExAC:0.9980,PhyloP:0.7810,SIFT:0.7040,PolyPhen2:0.0050,PolyPhen2_HumDiv:0.0000,LRT:0.9990,MutationTaster:0.0000,GERP:4.5600,GnomAD_AC_exome:244211,GnomAD_AN_exome:244570,GnomAD_AC_genome:30763,GnomAD_AN_genome:30970,GnomAD:0.9979;SGVEP=KPNA1|-|NM_002264|3|c.218G>A|p.(Ser73Asn)|missense GT:DP:AD:DP4 1/1:38:0,38:0,0,19,19 3 122513964 127861383 A C 322 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=232;DEA=34;QA=37;PBP=205;PBM=117;TYPE=SNP;DBXREF=dbSNP:rs891406,g1000:0.9175,GnomAD_AC_genome:27061,GnomAD_AN_genome:30770,GnomAD:0.8795;SGVEP=DIRC2|+|NM_032839|1|c.-76A>C|.|5'UTR GT:DP:AD:DP4 1/1:11:0,11:0,0,7,4 3 122598291 127886829 A G 281 off_target VARTYPE=1;BGN=0.00118013;ARL=251;DER=56;DEA=35;QR=37;QA=37;PBP=143;PBM=143;TYPE=SNP;DBXREF=dbSNP:rs2288677,g1000:0.4972,GnomAD_AC_genome:12357,GnomAD_AN_genome:30902,GnomAD:0.3999;SGVEP=DIRC2|+|NM_032839|9|c.*66A>G|.|3'UTR GT:DP:AD:DP4 0/1:26:14,12:7,7,6,6 3 123008519 128052792 T G 614 off_target VARTYPE=1;BGN=0.00118013;ARL=242;DEA=45;QA=37;PBP=322;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs4677881,g1000:0.9972,GnomAD_AC_genome:30883,GnomAD_AN_genome:30942,GnomAD:0.9981;SGVEP=ADCY5|-|NM_001199642|19|c.2482+78A>C|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,11,10 3 123010276 128053623 G A 1103 off_target VARTYPE=1;BGN=0.00118013;ARL=228;DER=45;DEA=36;QR=35;QA=37;PBP=533;PBM=579;TYPE=SNP;DBXREF=dbSNP:rs9809236,g1000:0.1829,GnomAD_AC_genome:9111,GnomAD_AN_genome:30860,GnomAD:0.2952;SGVEP=ADCY5|-|NM_001199642|18|c.2014-53C>T|.|intronic GT:DP:AD:DP4 0/1:68:24,44:11,13,21,23 3 123014877 128054624 C T 579 off_target VARTYPE=1;BGN=0.00141601;ARL=236;DER=65;DEA=50;QR=36;QA=36;PBP=289;PBM=297;TYPE=SNP;DBXREF=dbSNP:rs9881951,g1000:0.7206,GnomAD_AC_genome:22033,GnomAD_AN_genome:30820,GnomAD:0.7149;SGVEP=ADCY5|-|NM_001199642|17|c.2013+54G>A|.|intronic GT:DP:AD:DP4 0/1:57:31,26:17,14,13,13 3 123014904 128054637 C T 789 off_target VARTYPE=1;BGN=0.00141601;ARL=234;DER=72;DEA=79;QR=35;QA=36;PBP=461;PBM=337;TYPE=SNP;DBXREF=dbSNP:rs56407630,g1000:0.0469,esp5400:0.0848,ExAC:0.0850,GnomAD_AC_exome:20709,GnomAD_AN_exome:242510,GnomAD_AC_genome:2325,GnomAD_AN_genome:30904,GnomAD:0.0842;SGVEP=ADCY5|-|NM_001199642|17|c.2013+27G>A|.|intronic GT:DP:AD:DP4 0/1:72:37,35:19,18,20,15 3 123015094 128054772 G C 2476 off_target VARTYPE=1;BGN=0.00118013;ARL=235;DEA=56;QA=37;PBP=1197;PBM=1285;TYPE=SNP;DBXREF=dbSNP:rs9882534,g1000:0.9840,esp5400:0.9853,ExAC:0.9960,GnomAD_AC_exome:238828,GnomAD_AN_exome:239610,GnomAD_AC_genome:30467,GnomAD_AN_genome:30850,GnomAD:0.9957;SGVEP=ADCY5|-|NM_001199642|17|c.1881-31C>G|.|intronic GT:DP:AD:DP4 1/1:85:0,85:0,0,41,44 3 123018963 128055768 A G 1315 PASS VARTYPE=1;BGN=0.00141601;ARL=217;DER=54;DEA=59;QR=35;QA=36;PBP=628;PBM=698;TYPE=SNP;DBXREF=dbSNP:rs4482616,g1000:0.8067,esp5400:0.8028,ExAC:0.8000,GnomAD_AC_exome:195720,GnomAD_AN_exome:245144,GnomAD_AC_genome:24947,GnomAD_AN_genome:30906,GnomAD:0.7994;SGVEP=ADCY5|-|NM_001199642|15|c.1850+4T>C|.|splice_donor_+4 GT:DP:AD:DP4 0/1:97:41,56:23,18,27,29 3 123021838 128056493 A G 1518 off_target VARTYPE=1;BGN=0.00118013;ARL=252;DEA=69;QA=37;PBP=760;PBM=760;TYPE=SNP;DBXREF=dbSNP:rs9877581,g1000:0.9834,GnomAD_AC_genome:30539,GnomAD_AN_genome:30934,GnomAD:0.9872;SGVEP=ADCY5|-|NM_001199642|14|c.1674+64T>C|.|intronic GT:DP:AD:DP4 1/1:52:0,52:0,0,26,26 3 123021870 128056506 G C 2244 off_target VARTYPE=1;BGN=0.00118013;ARL=242;DEA=74;QA=37;PBP=1110;PBM=1139;TYPE=SNP;DBXREF=dbSNP:rs9844212,g1000:0.4417,esp5400:0.5495,ExAC:0.5230,GnomAD_AC_exome:124587,GnomAD_AN_exome:239978,GnomAD_AC_genome:16926,GnomAD_AN_genome:30820,GnomAD:0.5226;SGVEP=ADCY5|-|NM_001199642|14|c.1674+32C>G|.|intronic GT:DP:AD:DP4 1/1:77:0,77:0,0,38,39 3 123037047 128061801 A C 938 off_target VARTYPE=1;BGN=0.00141601;ARL=240;DEA=50;QA=36;PBP=484;PBM=455;TYPE=SNP;DBXREF=dbSNP:rs4327330,g1000:0.9962,GnomAD_AC_genome:30806,GnomAD_AN_genome:30898,GnomAD:0.9970;SGVEP=ADCY5|-|NM_001199642|11|c.1207-83T>G|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,17,16 3 123047666 128064346 A G 1807 off_target VARTYPE=1;BGN=0.00118013;ARL=237;DER=122;DEA=66;QR=36;QA=37;PBP=908;PBM=908;TYPE=SNP;DBXREF=dbSNP:rs9855969,g1000:0.8852,esp5400:0.8621,ExAC:0.8500,GnomAD_AC_exome:206338,GnomAD_AN_exome:243926,GnomAD_AC_genome:26675,GnomAD_AN_genome:30954,GnomAD:0.8477;SGVEP=ADCY5|-|NM_001199642|6|c.597-17T>C|.|intronic GT:DP:AD:DP4 1/1:68:4,64:2,2,32,32 3 123049678 128064735 C T 388 off_target VARTYPE=1;BGN=0.00118013;ARL=252;DER=61;DEA=42;QR=37;QA=37;PBP=235;PBM=160;TYPE=SNP;DBXREF=dbSNP:rs4678009,g1000:0.2977,GnomAD_AC_genome:6532,GnomAD_AN_genome:30900,GnomAD:0.2114;SGVEP=ADCY5|-|NM_001199642|5|c.596+58G>A|.|intronic GT:DP:AD:DP4 0/1:40:23,17:12,11,10,7 3 123049938 128064898 A C 1392 off_target VARTYPE=1;BGN=0.00141601;ARL=258;DEA=48;QA=36;PBP=654;PBM=740;TYPE=SNP;DBXREF=dbSNP:rs6806529,g1000:0.6923,GnomAD_AC_genome:19498,GnomAD_AN_genome:30902,GnomAD:0.6310;SGVEP=ADCY5|-|NM_001199642|5|c.469-75T>G|.|intronic GT:DP:AD:DP4 1/1:49:0,49:0,0,23,26 3 123066555 128068503 A AAAGG 518 off_target VARTYPE=1;BGN=0.000983543;ARL=257;DEA=62;QA=147;PBP=290;PBM=231;TYPE=INDEL;DBXREF=dbSNP:rs112525497,GnomAD_AC_genome:30698,GnomAD_AN_genome:30882,GnomAD:0.9940;SGVEP=ADCY5|-|NM_001199642|3|c.356+70_356+73dup|.|intronic GT:DP:AD:DP4 1/1:20:0,18:0,0,10,8 3 123167249 128097093 G A 1647 PASS VARTYPE=1;BGN=0.00141601;ARL=221;DER=79;DEA=109;QR=9;QA=36;PBP=796;PBM=853;TYPE=SNP;DBXREF=dbSNP:rs4678027,g1000:0.9866,esp5400:0.9915,ExAC:0.9960,GnomAD_AC_exome:55851,GnomAD_AN_exome:55910,GnomAD_AC_genome:30123,GnomAD_AN_genome:30460,GnomAD:0.9954;SGVEP=ADCY5|-|NM_183357|1|c.144C>T|p.(Gly48:)|synonymous GT:DP:AD:DP4 1/1:58:0,58:0,0,28,30 3 123382831 128167772 A G 313 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=271;DEA=36;QA=36;PBP=171;PBM=142;TYPE=SNP;DBXREF=dbSNP:rs820324,g1000:0.6382,GnomAD_AC_genome:21897,GnomAD_AN_genome:30798,GnomAD:0.7110;SGVEP=MYLK|-|NM_001321309|22|c.3457+121T>C|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,6,5 3 123411589 76884 G A 10000 PASS VARTYPE=1;BGN=0.00141601;ARL=228;DEA=75;QA=36;PBP=1760;PBM=1676;TYPE=SNP;DBXREF=dbSNP:rs40305,g1000:0.3327,esp5400:0.5579,ExAC:0.5780,clinvar:rs40305,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:142937,GnomAD_AN_exome:245918,GnomAD_AC_genome:16159,GnomAD_AN_genome:30818,GnomAD:0.5749;SGVEP=MYLK|-|NM_001321309|18|c.3030C>T|p.(Thr1010:)|synonymous GT:DP:AD:DP4 1/1:121:0,121:0,0,62,59 3 123418913 76888 G A 2331 PASS VARTYPE=1;BGN=0.00118013;ARL=224;DEA=83;QA=37;PBP=1197;PBM=1139;TYPE=SNP;DBXREF=dbSNP:rs865358,g1000:0.9479,esp5400:0.9409,ExAC:0.9820,clinvar:rs865358,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:242603,GnomAD_AN_exome:246260,GnomAD_AC_genome:29311,GnomAD_AN_genome:30898,GnomAD:0.9811;SGVEP=MYLK|-|NM_001321309|17|c.2874C>T|p.(Asn958:)|synonymous GT:DP:AD:DP4 1/1:80:0,80:0,0,41,39 3 123440967 76910 G A 2012 off_target VARTYPE=1;BGN=0.00118013;ARL=232;DER=59;DEA=58;QR=33;QA=37;PBP=1081;PBM=935;TYPE=SNP;DBXREF=dbSNP:rs820355,g1000:0.9135,esp5400:0.9087,ExAC:0.9670,clinvar:rs820355,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:161779,GnomAD_AN_exome:164968,GnomAD_AC_genome:28601,GnomAD_AN_genome:30948,GnomAD:0.9717;SGVEP=MYLK|-|NM_001321309|12|c.1276+8C>T|.|intronic GT:DP:AD:DP4 1/1:69:0,69:0,0,37,32 3 123441179 128190213 C T 1817 off_target VARTYPE=1;BGN=0.00141601;ARL=233;DEA=59;QA=36;PBP=882;PBM=938;TYPE=SNP;DBXREF=dbSNP:rs820356,g1000:0.7937,esp5400:0.8128,ExAC:0.8610,GnomAD_AC_exome:133718,GnomAD_AN_exome:143656,GnomAD_AC_genome:26005,GnomAD_AN_genome:30902,GnomAD:0.9150;SGVEP=MYLK|-|NM_001321309|12|c.1124-52G>A|.|intronic GT:DP:AD:DP4 1/1:64:0,64:0,0,31,33 3 123441237 128190224 GC G 825 off_target VARTYPE=1;BGN=0.00141601;ARL=264;DEA=47;QA=36;PBP=399;PBM=427;TYPE=INDEL;DBXREF=dbSNP:rs5852358,g1000:0.9135,GnomAD_AC_genome:28533,GnomAD_AN_genome:30882,GnomAD:0.9239;SGVEP=MYLK|-|NM_001321309|12|c.1124-111del|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,14,15 3 123441248 128190235 C T 702 off_target VARTYPE=1;BGN=0.00118013;ARL=266;DEA=44;QA=37;PBP=322;PBM=380;TYPE=SNP;DBXREF=dbSNP:rs820357,g1000:0.9135,GnomAD_AC_genome:28539,GnomAD_AN_genome:30878,GnomAD:0.9243;SGVEP=MYLK|-|NM_001321309|12|c.1124-121G>A|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,11,13 3 123451773 76915 G C 2650 PASS VARTYPE=1;BGN=0.00118013;ARL=224;DEA=79;QA=37;PBP=1372;PBM=1285;TYPE=SNP;DBXREF=dbSNP:rs9833275,g1000:0.9990,esp5400:0.9986,ExAC:1.0000,PhyloP:1.4850,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:5.2900,clinvar:rs9833275,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:246084,GnomAD_AN_exome:246158,GnomAD_AC_genome:30917,GnomAD_AN_genome:30958,GnomAD:0.9996;SGVEP=MYLK|-|NM_001321309|10|c.958C>G|p.(Leu320Val)|missense GT:DP:AD:DP4 1/1:91:0,91:0,0,47,44 3 123456432 128197317 C T 1197 off_target VARTYPE=1;BGN=0.00118013;ARL=223;DEA=43;QA=37;PBP=526;PBM=672;TYPE=SNP;DBXREF=dbSNP:rs2168439,g1000:0.9385,esp5400:0.9279,ExAC:0.9800,GnomAD_AC_exome:240581,GnomAD_AN_exome:244746,GnomAD_AC_genome:29100,GnomAD_AN_genome:30932,GnomAD:0.9782;SGVEP=MYLK|-|NM_001321309|7|c.61-42G>A|.|intronic GT:DP:AD:DP4 1/1:41:0,41:0,0,18,23 3 123457711 128197536 C A 2447 off_target VARTYPE=1;BGN=0.00118013;ARL=226;DEA=47;QA=37;PBP=1256;PBM=1197;TYPE=SNP;DBXREF=dbSNP:rs2198766,g1000:0.9295,esp5400:0.9179,ExAC:0.9740,GnomAD_AC_exome:208914,GnomAD_AN_exome:213308,GnomAD_AC_genome:28839,GnomAD_AN_genome:30936,GnomAD:0.9734;SGVEP=MYLK|-|NM_001321309|6|c.60+33G>T|.|intronic GT:DP:AD:DP4 1/1:84:0,84:0,0,43,41 3 123457893 76931 G A 10000 PASS VARTYPE=1;BGN=0.00118013;ARL=225;DER=111;DEA=67;QR=28;QA=37;PBP=1645;PBM=1790;TYPE=SNP;DBXREF=dbSNP:rs9840993,g1000:0.8562,esp5400:0.8707,ExAC:0.9440,PhyloP:-0.0670,SIFT:0.7530,PolyPhen2:0.1110,PolyPhen2_HumDiv:0.2910,MutationTaster:1.0000,GERP:1.3000,clinvar:rs9840993,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:233236,GnomAD_AN_exome:245712,GnomAD_AC_genome:27381,GnomAD_AN_genome:30924,GnomAD:0.9421;SGVEP=MYLK|-|NM_053025|7|c.439C>T|p.(Pro147Ser)|missense GT:DP:AD:DP4 1/1:121:2,119:1,1,57,62 3 123633612 128237908 G A 1518 off_target VARTYPE=1;BGN=0.00118013;ARL=215;DEA=44;QA=37;PBP=760;PBM=760;TYPE=SNP;DBXREF=dbSNP:rs11551801,g1000:0.3750,esp5400:0.5927,ExAC:0.4780,GnomAD_AC_exome:61328,GnomAD_AN_exome:106466,GnomAD_AC_genome:17212,GnomAD_AN_genome:30918,GnomAD:0.5717;SGVEP=CCDC14|-|NM_001308317|12|c.*14C>T|.|3'UTR GT:DP:AD:DP4 1/1:52:0,52:0,0,26,26 3 123633620 128237912 CT C 604 PASS VARTYPE=1;BGN=0.000983543;ARL=215;DER=56;DEA=47;QR=38;QA=38;PBP=291;PBM=320;TYPE=INDEL;DBXREF=dbSNP:rs563321376,g1000:0.0020,ExAC:0.0032,GnomAD_AC_exome:507,GnomAD_AN_exome:115514,GnomAD_AC_genome:165,GnomAD_AN_genome:30974,GnomAD:0.0046;SGVEP=CCDC14|-|NM_001308317|12|c.*5del|.|3'UTR GT:DP:AD:DP4 0/1:52:27,25:14,13,12,13 3 123634046 128238265 G A 1197 PASS VARTYPE=1;BGN=0.00118013;ARL=242;DEA=106;QA=37;PBP=585;PBM=614;TYPE=SNP;DBXREF=dbSNP:rs2700373,g1000:0.8425,esp5400:0.8101,ExAC:0.7940,GnomAD_AC_exome:195282,GnomAD_AN_exome:245968,GnomAD_AC_genome:25128,GnomAD_AN_genome:30948,GnomAD:0.7959;SGVEP=CCDC14|-|NM_001308317|12|c.1842C>T|p.(Ser614:)|synonymous GT:DP:AD:DP4 1/1:41:0,41:0,0,20,21 3 123652476 128253286 G A 468 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=227;DEA=74;QA=37;PBP=234;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs6784695,g1000:0.8438,esp5400:0.8214,ExAC:0.7330,GnomAD_AC_exome:114467,GnomAD_AN_exome:143816,GnomAD_AC_genome:25147,GnomAD_AN_genome:30932,GnomAD:0.7989;SGVEP=CCDC14|-|NM_001308317|9|c.970+44C>T|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 3 123665902 128253920 T G 1902 PASS VARTYPE=1;BGN=0.00141601;ARL=235;DEA=108;QA=36;PBP=938;PBM=967;TYPE=SNP;DBXREF=dbSNP:rs17310144,g1000:0.2985,esp5400:0.4707,ExAC:0.4890,PhyloP:-0.2530,SIFT:0.9070,PolyPhen2:0.3670,PolyPhen2_HumDiv:0.8990,LRT:0.8610,MutationTaster:0.0000,GERP:-2.2100,GnomAD_AC_exome:120428,GnomAD_AN_exome:246098,GnomAD_AC_genome:14046,GnomAD_AN_genome:30896,GnomAD:0.4855;SGVEP=CCDC14|-|NM_001308317|7|c.493A>C|p.(Thr165Pro)|missense GT:DP:AD:DP4 1/1:67:0,67:0,0,33,34 3 123666192 128253975 C T 598 off_target VARTYPE=1;BGN=0.00141601;ARL=208;DEA=27;QA=36;PBP=285;PBM=313;TYPE=SNP;DBXREF=dbSNP:rs17375977,g1000:0.3153,esp5400:0.4942,ExAC:0.4900,GnomAD_AC_exome:107886,GnomAD_AN_exome:219194,GnomAD_AC_genome:14580,GnomAD_AN_genome:30904,GnomAD:0.4897;SGVEP=CCDC14|-|NM_001308317|7|c.229-26G>A|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,10,11 3 123988039 128354970 T C 2765 PASS VARTYPE=1;BGN=0.00118013;ARL=220;DEA=94;QA=37;PBP=1372;PBM=1401;TYPE=SNP;DBXREF=dbSNP:rs2272486,g1000:0.6218,esp5400:0.6262,ExAC:0.6170,PhyloP:-1.6580,MutationTaster:1.0000,GERP:-5.8300,GnomAD_AC_exome:151722,GnomAD_AN_exome:244728,GnomAD_AC_genome:19192,GnomAD_AN_genome:30902,GnomAD:0.6201;SGVEP=KALRN|+|NM_001024660|5|c.900T>C|p.(His300:)|synonymous GT:DP:AD:DP4 1/1:95:0,95:0,0,47,48 3 124044949 128364390 C T 2142 PASS VARTYPE=1;BGN=0.00118013;ARL=215;DER=106;DEA=99;QR=36;QA=37;PBP=1062;PBM=1094;TYPE=SNP;DBXREF=dbSNP:rs2289778,g1000:0.7536,esp5400:0.7884,ExAC:0.8570,PhyloP:-1.6020,MutationTaster:1.0000,GERP:-6.9900,GnomAD_AC_exome:211171,GnomAD_AN_exome:245528,GnomAD_AC_genome:24839,GnomAD_AN_genome:30940,GnomAD:0.8537;SGVEP=KALRN|+|NM_001024660|7|c.1209C>T|p.(Phe403:)|synonymous GT:DP:AD:DP4 0/1:126:41,85:21,20,42,43 3 124048764 128365867 C T 1029 PASS VARTYPE=1;BGN=0.00118013;ARL=209;DER=96;DEA=103;QR=36;QA=37;PBP=555;PBM=484;TYPE=SNP;DBXREF=dbSNP:rs2276740,g1000:0.1208,esp5400:0.1043,ExAC:0.0940,PhyloP:-1.5510,MutationTaster:1.0000,GERP:-7.4600,GnomAD_AC_exome:23492,GnomAD_AN_exome:246034,GnomAD_AC_genome:3028,GnomAD_AN_genome:30858,GnomAD:0.0958;SGVEP=KALRN|+|NM_001024660|8|c.1335C>T|p.(Ser445:)|synonymous GT:DP:AD:DP4 0/1:123:76,47:39,37,25,22 3 124066121 128372026 CTGTGTGTGTGTGTGTGTGTGTGTGTG C 174 off_target VARTYPE=1;BGN=0.000983543;ARL=214;DER=46;DEA=98;QR=32;QA=913;PBP=125;PBM=58;SP=1;NVF=0.47;TYPE=INDEL;DBXREF=dbSNP:rs747094682,ExAC:0.0490,GnomAD_AC_exome:1058,GnomAD_AN_exome:72802,GnomAD_AC_genome:292,GnomAD_AN_genome:6478,GnomAD:0.0170;SGVEP=KALRN|+|NM_001024660|10|c.1764+31_1764+56del|.|intronic GT:DP:AD:DP4 0/1:53:34,9:19,15,6,3 3 124113929 128384623 A T 877 off_target VARTYPE=1;BGN=0.00118013;ARL=252;DEA=71;QA=37;PBP=439;PBM=439;TYPE=SNP;DBXREF=dbSNP:rs482285,g1000:0.7340,esp5400:0.7987,GnomAD_AC_genome:23560,GnomAD_AN_genome:30906,GnomAD:0.7623;SGVEP=KALRN|+|NM_001024660|12|c.1957-53A>T|.|intronic GT:DP:AD:DP4 1/1:30:0,30:0,0,15,15 3 124165217 128431265 G A 581 off_target VARTYPE=1;BGN=0.00169904;ARL=260;DER=49;DEA=55;QR=9;QA=35;PBP=221;PBM=360;TYPE=SNP;DBXREF=dbSNP:rs624450,g1000:0.3922,GnomAD_AC_genome:12329,GnomAD_AN_genome:30908,GnomAD:0.3989;SGVEP=KALRN|+|NM_001024660|20|c.3423+94G>A|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,8,13 3 124209438 128441634 A G 347 off_target VARTYPE=1;BGN=0.00118013;ARL=243;DER=29;DEA=26;QR=37;QA=37;PBP=230;PBM=122;TYPE=SNP;DBXREF=dbSNP:rs2289841,g1000:0.6943,GnomAD_AC_genome:21233,GnomAD_AN_genome:30890,GnomAD:0.6874;SGVEP=KALRN|+|NM_001024660|30|c.4391-103A>G|.|intronic GT:DP:AD:DP4 0/1:24:10,14:5,5,9,5 3 124210344 128442542 C A 423 off_target VARTYPE=1;BGN=0.000983543;ARL=259;DER=62;DEA=78;QR=36;QA=38;PBP=187;PBM=242;TYPE=SNP;DBXREF=dbSNP:rs10755077,g1000:0.5799,GnomAD_AC_genome:15415,GnomAD_AN_genome:30874,GnomAD:0.4993;SGVEP=KALRN|+|NM_001024660|31|c.4683+73C>A|.|intronic GT:DP:AD:DP4 0/1:43:25,18:13,12,8,10 3 124281980 128469581 T C 535 off_target VARTYPE=1;BGN=0.00141601;ARL=246;DER=67;DEA=48;QR=34;QA=36;PBP=261;PBM=280;TYPE=SNP;DBXREF=dbSNP:rs2256831,g1000:0.6571,esp5400:0.5646,ExAC:0.5050,GnomAD_AC_exome:118699,GnomAD_AN_exome:231118,GnomAD_AC_genome:16978,GnomAD_AN_genome:30910,GnomAD:0.5178;SGVEP=KALRN|+|NM_001024660|34|c.5176+44T>C|.|intronic GT:DP:AD:DP4 0/1:43:20,23:9,11,11,12 3 124303786 128489445 G C 1110 off_target VARTYPE=1;BGN=0.00118013;ARL=210;DEA=51;QA=37;PBP=497;PBM=614;TYPE=SNP;DBXREF=dbSNP:rs2250757,g1000:0.6647,esp5400:0.5860,ExAC:0.4850,GnomAD_AC_exome:92562,GnomAD_AN_exome:174854,GnomAD_AC_genome:18179,GnomAD_AN_genome:30874,GnomAD:0.5383;SGVEP=KALRN|+|NM_001024660|34|c.5176+21850G>C|.|intronic GT:DP:AD:DP4 1/1:38:0,38:0,0,17,21 3 124351316 128498986 G A 2185 PASS VARTYPE=1;BGN=0.00141601;ARL=220;DEA=82;QA=36;PBP=1109;PBM=1080;TYPE=SNP;DBXREF=dbSNP:rs1708303,g1000:0.7063,esp5400:0.6333,ExAC:0.6170,PhyloP:1.1770,MutationTaster:1.0000,GERP:3.8000,GnomAD_AC_exome:152151,GnomAD_AN_exome:245422,GnomAD_AC_genome:19722,GnomAD_AN_genome:30874,GnomAD:0.6221;SGVEP=KALRN|+|NM_001024660|35|c.5226G>A|p.(Val1742:)|synonymous GT:DP:AD:DP4 1/1:77:0,77:0,0,39,38 3 124351424 128499114 T C 3228 PASS VARTYPE=1;BGN=0.00141601;ARL=227;DEA=112;QA=36;PBP=1676;PBM=1562;TYPE=SNP;DBXREF=dbSNP:rs1660038,g1000:0.7077,esp5400:0.6357,ExAC:0.6180,PhyloP:-0.0450,SIFT:0.9980,LRT:1.0000,MutationTaster:1.0000,GERP:1.8800,GnomAD_AC_exome:152645,GnomAD_AN_exome:245948,GnomAD_AC_genome:19817,GnomAD_AN_genome:30906,GnomAD:0.6229;SGVEP=KALRN|+|NM_001024660|35|c.5334T>C|p.(Leu1778:)|synonymous GT:DP:AD:DP4 1/1:114:0,114:0,0,59,55 3 124352573 128499656 A G 380 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=263;DEA=26;QA=37;PBP=205;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs652046,g1000:0.7788,GnomAD_AC_genome:21668,GnomAD_AN_genome:30912,GnomAD:0.7010;SGVEP=KALRN|+|NM_001024660|36|c.5461-123A>G|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 3 124369640 128504950 T TA 1606 off_target VARTYPE=1;BGN=0.00118013;ARL=218;DEA=50;QA=37;PBP=821;PBM=792;TYPE=INDEL;DBXREF=dbSNP:rs11372663,g1000:0.7788,ExAC:0.6640,GnomAD_AC_exome:161851,GnomAD_AN_exome:244238,GnomAD_AC_genome:21775,GnomAD_AN_genome:30860,GnomAD:0.6675;SGVEP=KALRN|+|NM_001024660|38|c.5662-15_5662-14insA|.|intronic GT:DP:AD:DP4 1/1:61:0,57:0,0,29,28 3 124369650 128504976 T C 2012 PASS VARTYPE=1;BGN=0.00118013;ARL=212;DEA=51;QA=37;PBP=1023;PBM=993;TYPE=SNP;DBXREF=dbSNP:rs2291988,g1000:0.2612,esp5400:0.2184,ExAC:0.2590,GnomAD_AC_exome:64186,GnomAD_AN_exome:245146,GnomAD_AC_genome:7510,GnomAD_AN_genome:30892,GnomAD:0.2597;SGVEP=KALRN|+|NM_001024660|38|c.5662-5T>C|.|intronic GT:DP:AD:DP4 1/1:69:0,69:0,0,35,34 3 124374405 128506247 A C 825 off_target VARTYPE=1;BGN=0.00141601;ARL=235;DEA=39;QA=36;PBP=427;PBM=399;TYPE=SNP;DBXREF=dbSNP:rs4677939,g1000:0.2666,esp5400:0.2298,ExAC:0.2610,GnomAD_AC_exome:64374,GnomAD_AN_exome:245134,GnomAD_AC_genome:7821,GnomAD_AN_genome:30890,GnomAD:0.2616;SGVEP=KALRN|+|NM_001024660|39|c.5793-43A>C|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,15,14 3 124376653 128510442 G A 1110 PASS VARTYPE=1;BGN=0.000983543;ARL=209;DEA=62;QA=38;PBP=571;PBM=541;TYPE=SNP;DBXREF=dbSNP:rs106520,g1000:0.3620,esp5400:0.2295,ExAC:0.3180,GnomAD_AC_exome:80757,GnomAD_AN_exome:245946,GnomAD_AC_genome:8963,GnomAD_AN_genome:30910,GnomAD:0.3241;SGVEP=KALRN|+|NM_001024660|41|c.6033+3G>A|.|splice_donor_+3 GT:DP:AD:DP4 1/1:37:0,37:0,0,19,18 3 124377196 128510832 G A 526 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=234;DEA=55;QA=37;PBP=263;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs10804562,g1000:0.1823,GnomAD_AC_genome:5873,GnomAD_AN_genome:30894,GnomAD:0.1901;SGVEP=KALRN|+|NM_001024660|42|c.6034-82G>A|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 3 124378386 128511651 C G 285 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=272;DEA=103;QA=36;PBP=142;PBM=142;TYPE=SNP;DBXREF=dbSNP:rs333297,g1000:0.7720,GnomAD_AC_genome:21641,GnomAD_AN_genome:30884,GnomAD:0.7007;SGVEP=KALRN|+|NM_001024660|43|c.6213+82C>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 3 124379748 128512205 G C 631 off_target VARTYPE=1;BGN=0.000983543;ARL=251;DEA=55;QA=38;PBP=331;PBM=300;TYPE=SNP;DBXREF=dbSNP:rs333290,g1000:0.6124,esp5400:0.6470,ExAC:0.5620,GnomAD_AC_exome:136596,GnomAD_AN_exome:245852,GnomAD_AC_genome:18881,GnomAD_AN_genome:30876,GnomAD:0.5618;SGVEP=KALRN|+|NM_001024660|44|c.6214-22G>C|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,11,10 3 124379817 128512269 T C 1518 PASS VARTYPE=1;BGN=0.00118013;ARL=234;DEA=75;QA=37;PBP=789;PBM=731;TYPE=SNP;DBXREF=dbSNP:rs333289,g1000:0.6010,esp5400:0.6327,ExAC:0.5590,PhyloP:-1.0580,MutationTaster:1.0000,GERP:-4.3500,GnomAD_AC_exome:136093,GnomAD_AN_exome:245996,GnomAD_AC_genome:18508,GnomAD_AN_genome:30900,GnomAD:0.5583;SGVEP=KALRN|+|NM_001024660|44|c.6261T>C|p.(Ile2087:)|synonymous GT:DP:AD:DP4 1/1:52:0,52:0,0,27,25 3 124393595 128519992 A G 427 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=272;DEA=33;QA=36;PBP=171;PBM=256;TYPE=SNP;DBXREF=dbSNP:rs333355,g1000:0.1743,GnomAD_AC_genome:5694,GnomAD_AN_genome:30910,GnomAD:0.1842;SGVEP=KALRN|+|NM_001024660|49|c.7193+134A>G|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,6,9 3 124412634 128524371 G T 964 off_target VARTYPE=1;BGN=0.00118013;ARL=213;DEA=72;QA=37;PBP=526;PBM=439;TYPE=SNP;DBXREF=dbSNP:rs333283,g1000:0.7280,esp5400:0.6879,ExAC:0.6630,GnomAD_AC_exome:153866,GnomAD_AN_exome:232612,GnomAD_AC_genome:21027,GnomAD_AN_genome:30906,GnomAD:0.6637;SGVEP=KALRN|+|NM_001024660|52|c.7378-17G>T|.|intronic GT:DP:AD:DP4 1/1:33:0,33:0,0,18,15 3 124449209 76936 A G 512 low_coverage VARTYPE=1;BGN=0.00141601;ARL=262;DEA=77;QA=36;PBP=256;PBM=256;TYPE=SNP;DBXREF=dbSNP:rs2279198,g1000:0.5591,ExAC:0.5900,clinvar:rs2279198,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:142428,GnomAD_AN_exome:234996,GnomAD_AC_genome:16671,GnomAD_AN_genome:30896,GnomAD:0.5984;SGVEP=KALRN|+|NM_001024660|60|.|.|intergenic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 3 124449252 76937 T C 1449 PASS VARTYPE=1;BGN=0.00141601;ARL=237;DEA=64;QA=36;PBP=740;PBM=711;TYPE=SNP;DBXREF=dbSNP:rs2279199,g1000:0.4615,ExAC:0.4750,clinvar:rs2279199,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:117605,GnomAD_AN_exome:236988,GnomAD_AC_genome:13682,GnomAD_AN_genome:30852,GnomAD:0.4902;SGVEP=UMPS|+|NM_000373|1|c.-67T>C|.|5'UTR GT:DP:AD:DP4 1/1:51:0,51:0,0,26,25 3 124449291 76939 A G 2157 PASS VARTYPE=1;BGN=0.00118013;ARL=222;DEA=71;QA=37;PBP=1052;PBM=1110;TYPE=SNP;DBXREF=dbSNP:rs1139538,g1000:0.5601,esp5400:0.5274,ExAC:0.5960,clinvar:rs1139538,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:148907,GnomAD_AN_exome:246082,GnomAD_AC_genome:16669,GnomAD_AN_genome:30876,GnomAD:0.5978;SGVEP=UMPS|+|NM_000373|1|c.-28A>G|.|5'UTR GT:DP:AD:DP4 1/1:74:0,74:0,0,36,38 3 124454174 128544591 A G 380 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=268;DEA=45;QA=37;PBP=176;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs3772804,g1000:0.2244,GnomAD_AC_genome:7194,GnomAD_AN_genome:30918,GnomAD:0.2327;SGVEP=UMPS|+|NM_000373|2|c.310+81A>G|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,6,7 3 124458816 76943 C G 556 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=235;DEA=30;QA=37;PBP=322;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs694897,g1000:0.6472,clinvar:rs694897,CLNSIG:not_provided,CLNREVSTAT:no_assertion_provided,GnomAD_AC_genome:19358,GnomAD_AN_genome:30940,GnomAD:0.6257;SGVEP=UMPS|+|NM_000373|4|c.983-55C>G|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,11,8 3 124462710 76945 G C 380 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=235;DEA=35;QA=37;PBP=205;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs3772807,g1000:0.2428,esp5400:0.2404,clinvar:rs3772807,CLNSIG:not_provided,CLNREVSTAT:no_assertion_provided,GnomAD_AC_genome:7863,GnomAD_AN_genome:30910,GnomAD:0.2544;SGVEP=UMPS|+|NM_000373|6|c.1274-52G>C|.|intronic GT:DP:AD:DP4 1/1:13:0,13:0,0,7,6 3 126201096 129145129 A G 223 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=251;DER=40;DEA=52;QR=34;QA=36;PBP=125;PBM=102;TYPE=SNP;DBXREF=dbSNP:rs79169658,g1000:0.0240,GnomAD_AC_genome:897,GnomAD_AN_genome:30924,GnomAD:0.0290;SGVEP=UROC1|-|NM_001165974|21|c.*92T>C|.|3'UTR GT:DP:AD:DP4 0/1:14:5,9:3,2,5,4 3 126202257 76948 G A 294 PASS VARTYPE=1;BGN=0.00203864;ARL=222;DER=102;DEA=116;QR=36;QA=34;PBP=150;PBM=150;TYPE=SNP;DBXREF=dbSNP:rs1687477,g1000:0.4091,esp5400:0.4240,ExAC:0.4710,clinvar:rs1687477,CLNSIG:Likely_benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:117858,GnomAD_AN_exome:245444,GnomAD_AC_genome:12771,GnomAD_AN_genome:30892,GnomAD:0.4727;SGVEP=UROC1|-|NM_001165974|20|c.2025C>T|p.(Ala675:)|synonymous GT:DP:AD:DP4 0/1:56:40,16:20,20,8,8 3 126207222 129147884 A G 294 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=254;DER=4;DEA=57;QR=36;QA=36;PBP=135;PBM=162;TYPE=SNP;DBXREF=dbSNP:rs777483,g1000:0.6420,GnomAD_AC_genome:21067,GnomAD_AN_genome:30920,GnomAD:0.6813;SGVEP=UROC1|-|NM_001165974|19|c.1889-100T>C|.|intronic GT:DP:AD:DP4 1/1:13:2,11:1,1,5,6 3 126208249 129148263 A C 477 off_target VARTYPE=1;BGN=0.00141601;ARL=216;DER=60;DEA=51;QR=37;QA=36;PBP=254;PBM=230;TYPE=SNP;DBXREF=dbSNP:rs777479,g1000:0.4916,esp5400:0.4885,ExAC:0.5560,GnomAD_AC_exome:136120,GnomAD_AN_exome:241320,GnomAD_AC_genome:15130,GnomAD_AN_genome:30868,GnomAD:0.5557;SGVEP=UROC1|-|NM_001165974|18|c.1789-31T>G|.|intronic GT:DP:AD:DP4 0/1:67:44,23:22,22,12,11 3 126218167 129153479 G A 1779 off_target VARTYPE=1;BGN=0.00118013;ARL=224;DEA=69;QA=37;PBP=877;PBM=906;TYPE=SNP;DBXREF=dbSNP:rs1168595,g1000:0.2332,esp5400:0.2560,ExAC:0.2850,GnomAD_AC_exome:71101,GnomAD_AN_exome:240666,GnomAD_AC_genome:8355,GnomAD_AN_genome:30134,GnomAD:0.2934;SGVEP=UROC1|-|NM_001165974|14|c.1496+13C>T|.|intronic GT:DP:AD:DP4 1/1:61:0,61:0,0,30,31 3 126219973 129153719 T C 497 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=269;DEA=66;QA=37;PBP=263;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs1177565,g1000:0.8768,GnomAD_AC_genome:26790,GnomAD_AN_genome:30920,GnomAD:0.8664;SGVEP=UROC1|-|NM_001165974|11|c.1145+88A>G|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 3 126224480 129154096 A AAGGG 386 off_target VARTYPE=1;BGN=0.000983543;ARL=245;DER=47;DEA=50;QR=34;QA=144;PBP=259;PBM=135;TYPE=INDEL;DBXREF=dbSNP:rs535770909,g1000:0.1448,GnomAD_AC_genome:4860,GnomAD_AN_genome:26496,GnomAD:0.1834;SGVEP=UROC1|-|NM_001165974|8|c.813+60_813+63dup|.|intronic GT:DP:AD:DP4 0/1:47:28,17:16,12,11,6 3 126226518 129154292 C T 388 low_coverage;off_target VARTYPE=1;BGN=0.00169904;ARL=251;DEA=24;QA=35;PBP=221;PBM=166;TYPE=SNP;DBXREF=dbSNP:rs9784244,g1000:0.8864,esp5400:0.9011,GnomAD_AC_genome:27425,GnomAD_AN_genome:30956,GnomAD:0.8859;SGVEP=UROC1|-|NM_001165974|6|c.602+67G>A|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,8,6 3 126227185 129154512 G A 102 low_variant_fraction;off_target VARTYPE=1;BGN=0.000983543;ARL=212;DER=44;DEA=47;QR=36;QA=38;PBP=65;PBM=42;SP=0;TYPE=SNP;DBXREF=dbSNP:rs16837531,g1000:0.5583,GnomAD_AC_genome:15631,GnomAD_AN_genome:30812,GnomAD:0.5073;SGVEP=UROC1|-|NM_001165974|4|c.411+74C>T|.|intronic GT:DP:AD:DP4 0/1:26:21,5:11,10,3,2 3 126228410 129154821 G A 707 off_target VARTYPE=1;BGN=0.00118013;ARL=215;DER=74;DEA=72;QR=38;QA=37;PBP=386;PBM=327;TYPE=SNP;DBXREF=dbSNP:rs729456,g1000:0.4303,esp5400:0.4315,ExAC:0.3820,GnomAD_AC_exome:80121,GnomAD_AN_exome:149116,GnomAD_AC_genome:13699,GnomAD_AN_genome:30904,GnomAD:0.5212;SGVEP=UROC1|-|NM_001165974|3|c.351+18C>T|.|intronic GT:DP:AD:DP4 0/1:43:14,28:7,7,15,13 3 126236348 129156523 T C 672 off_target VARTYPE=1;BGN=0.00118013;ARL=247;DEA=33;QA=37;PBP=351;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs1687480,g1000:0.9990,GnomAD_AC_genome:30787,GnomAD_AN_genome:30844,GnomAD:0.9982;SGVEP=UROC1|-|NM_001165974|1|c.126+89A>G|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,12,11 3 127500530 129579082 A G 261 off_target VARTYPE=1;BGN=0.00118013;ARL=254;DER=52;DEA=42;QR=33;QA=37;PBP=143;PBM=122;TYPE=SNP;DBXREF=dbSNP:rs76504094,g1000:0.0575,GnomAD_AC_genome:1627,GnomAD_AN_genome:30964,GnomAD:0.0525;SGVEP=MGLL|-|NM_001003794|3|c.232+102T>C|.|intronic GT:DP:AD:DP4 0/1:23:12,11:7,5,6,5 3 127784118 129659405 T C 1512 off_target VARTYPE=1;BGN=0.00118013;ARL=211;DER=60;DEA=65;QR=37;QA=37;PBP=749;PBM=775;TYPE=SNP;DBXREF=dbSNP:rs13070488,g1000:0.2007,GnomAD_AC_genome:7217,GnomAD_AN_genome:30924,GnomAD:0.2334;SGVEP=RUVBL1|-|NM_001319086|10|c.940-55A>G|.|intronic GT:DP:AD:DP4 0/1:113:50,63:25,25,31,32 3 127800071 129664670 A G 251 off_target VARTYPE=1;BGN=0.00118013;ARL=233;DER=89;DEA=54;QR=36;QA=37;PBP=128;PBM=128;TYPE=SNP;DBXREF=dbSNP:rs1057156,g1000:0.2003,esp5400:0.2508,ExAC:0.2280,GnomAD_AC_exome:54654,GnomAD_AN_exome:243350,GnomAD_AC_genome:7211,GnomAD_AN_genome:30900,GnomAD:0.2256;SGVEP=RUVBL1|-|NM_001319086|9|c.939+6478T>C|.|intronic GT:DP:AD:DP4 0/1:42:30,12:15,15,6,6 3 128200806 129755136 G A 1671 off_target VARTYPE=1;BGN=0.00118013;ARL=213;DER=61;DEA=56;QR=37;QA=37;PBP=780;PBM=903;TYPE=SNP;DBXREF=dbSNP:rs11708606,g1000:0.1230,esp5400:0.1837,ExAC:0.1600,clinvar:rs11708606,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:37929,GnomAD_AN_exome:242068,GnomAD_AC_genome:5357,GnomAD_AN_genome:30866,GnomAD:0.1586;SGVEP=GATA2|-|NM_001145661|6|c.1018-19C>T|.|intronic GT:DP:AD:DP4 0/1:104:37,67:17,20,31,36 3 128205860 129757038 G C 10000 PASS VARTYPE=1;BGN=0.00118013;ARL=217;DEA=77;QA=37;PBP=1837;PBM=1837;TYPE=SNP;DBXREF=dbSNP:rs1573858,g1000:0.7099,esp5400:0.6978,ExAC:0.6350,clinvar:rs1573858,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:134408,GnomAD_AN_exome:202484,GnomAD_AC_genome:20136,GnomAD_AN_genome:30826,GnomAD:0.6624;SGVEP=GATA2|-|NM_001145661|3|c.15C>G|p.(Pro5:)|synonymous GT:DP:AD:DP4 1/1:126:0,126:0,0,63,63 3 128890350 129965713 G A 1421 PASS VARTYPE=1;BGN=0.00141601;ARL=222;DEA=78;QA=36;PBP=711;PBM=711;TYPE=SNP;DBXREF=dbSNP:rs4303883,g1000:0.7572,esp5400:0.7856,ExAC:0.8900,GnomAD_AC_exome:221652,GnomAD_AN_exome:246244,GnomAD_AC_genome:25161,GnomAD_AN_genome:30954,GnomAD:0.8904;SGVEP=CNBP|-|NM_001127192|3|c.156C>T|p.(Asp52:)|synonymous GT:DP:AD:DP4 1/1:50:0,50:0,0,25,25 3 129152144 130035224 T C 1222 off_target VARTYPE=1;BGN=0.00141601;ARL=259;DEA=37;QA=36;PBP=626;PBM=598;TYPE=SNP;DBXREF=dbSNP:rs140695,g1000:0.8512,GnomAD_AC_genome:23729,GnomAD_AN_genome:30650,GnomAD:0.7742;SGVEP=MBD4|-|NM_001276270|6|c.1394-54A>G|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,22,21 3 129185661 130037392 C A 484 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=261;DEA=61;QA=36;PBP=256;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs6805886,g1000:1.0000,GnomAD_AC_genome:30946,GnomAD_AN_genome:30946,GnomAD:1.0000;SGVEP=IFT122|+|NM_001280541|8|c.716+2037C>A|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 3 129234208 . T A 116 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=244;DER=31;DEA=50;QR=35;QA=36;PBP=95;PBM=24;SP=0;TYPE=SNP;SGVEP=IFT122|+|NM_001280541|26|c.3133-123T>A|.|intronic GT:DP:AD:DP4 0/1:11:6,5:4,2,4,1 3 130569557 130394927 T G 148 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=264;DER=67;DEA=22;QR=37;QA=36;PBP=75;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1316658,g1000:0.7650,GnomAD_AC_genome:22783,GnomAD_AN_genome:30916,GnomAD:0.7369;SGVEP=ATP2C1|+|NM_001199180|1|c.-108T>G|.|5'UTR GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 3 130651096 130402615 T C 124 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=263;DER=52;DEA=24;QR=38;QA=38;PBP=50;PBM=77;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2685178,g1000:0.1538,GnomAD_AC_genome:5037,GnomAD_AN_genome:30896,GnomAD:0.1630;SGVEP=ATP2C1|+|NM_001001485|4|c.234+114T>C|.|intronic GT:DP:AD:DP4 0/1:11:6,5:3,3,2,3 3 130674022 130418434 A G 410 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=250;DEA=42;QA=37;PBP=205;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs218494,g1000:0.8972,GnomAD_AC_genome:28778,GnomAD_AN_genome:30958,GnomAD:0.9296;SGVEP=ATP2C1|+|NM_001001485|10|c.756+98A>G|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 3 130678263 130418654 T C 207 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=217;DER=16;DEA=20;QR=37;QA=37;PBP=105;PBM=105;TYPE=SNP;DBXREF=dbSNP:rs2760271,g1000:0.1909,GnomAD_AC_genome:5873,GnomAD_AN_genome:30848,GnomAD:0.1904;SGVEP=ATP2C1|+|NM_001001485|12|c.899+78T>C|.|intronic GT:DP:AD:DP4 0/1:12:4,8:2,2,4,4 3 132360883 130847039 C T 1692 PASS VARTYPE=1;BGN=0.00118013;ARL=193;DEA=63;QA=37;PBP=848;PBM=848;TYPE=SNP;DBXREF=dbSNP:rs821572,g1000:1.0000,ExAC:1.0000,PhyloP:1.0170,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:5.4900,GnomAD_AC_exome:246184,GnomAD_AN_exome:246184,GnomAD_AC_genome:30982,GnomAD_AN_genome:30982,GnomAD:1.0000;SGVEP=ACAD11|-|NM_032169|4|c.470G>A|p.(Arg157His)|missense GT:DP:AD:DP4 1/1:58:0,58:0,0,29,29 3 133167363 131055605 G A 750 PASS VARTYPE=1;BGN=0.000983543;ARL=206;DEA=70;QA=38;PBP=361;PBM=391;TYPE=SNP;DBXREF=dbSNP:rs2276737,g1000:0.4365,esp5400:0.4581,ExAC:0.5430,GnomAD_AC_exome:132700,GnomAD_AN_exome:245788,GnomAD_AC_genome:14593,GnomAD_AN_genome:30916,GnomAD:0.5323;SGVEP=BFSP2|+|NM_003571|3|c.603G>A|p.(Ala201:)|synonymous GT:DP:AD:DP4 1/1:25:0,25:0,0,12,13 3 133185834 131058662 T C 444 off_target VARTYPE=1;BGN=0.00141601;ARL=240;DER=62;DEA=62;QR=37;QA=36;PBP=227;PBM=224;TYPE=SNP;DBXREF=dbSNP:rs2737717,g1000:0.5026,esp5400:0.4293,ExAC:0.4520,GnomAD_AC_exome:110581,GnomAD_AN_exome:245324,GnomAD_AC_genome:12706,GnomAD_AN_genome:30544,GnomAD:0.4469;SGVEP=BFSP2|+|NM_003571|5|c.1023+31T>C|.|intronic GT:DP:AD:DP4 0/1:72:50,22:24,26,11,11 3 133191453 131059714 A G 779 off_target VARTYPE=1;BGN=0.00118013;ARL=247;DER=57;DEA=67;QR=35;QA=37;PBP=397;PBM=390;TYPE=SNP;DBXREF=dbSNP:rs7628499,g1000:0.6162,esp5400:0.6247,ExAC:0.6650,GnomAD_AC_exome:134250,GnomAD_AN_exome:192500,GnomAD_AC_genome:19115,GnomAD_AN_genome:30918,GnomAD:0.6864;SGVEP=BFSP2|+|NM_003571|6|c.1244+44A>G|.|intronic GT:DP:AD:DP4 0/1:56:24,32:11,13,16,16 3 133483696 131131013 T C 526 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=180;DEA=26;QA=37;PBP=263;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs1880669,g1000:0.5022,esp5400:0.5142,ExAC:0.5600,GnomAD_AC_exome:138827,GnomAD_AN_exome:245320,GnomAD_AC_genome:16075,GnomAD_AN_genome:30920,GnomAD:0.5608;SGVEP=TF|+|NM_001063|11|c.1298-23T>C|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,9,9 3 133485133 131131374 A G 1052 PASS VARTYPE=1;BGN=0.00118013;ARL=215;DEA=52;QA=37;PBP=526;PBM=526;TYPE=SNP;DBXREF=dbSNP:rs2692696,g1000:0.9932,esp5400:0.9994,ExAC:0.9930,PhyloP:1.4330,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:4.8700,GnomAD_AC_exome:244112,GnomAD_AN_exome:246246,GnomAD_AC_genome:30923,GnomAD_AN_genome:30978,GnomAD:0.9921;SGVEP=TF|+|NM_001063|12|c.1342A>G|p.(Ile448Val)|missense GT:DP:AD:DP4 1/1:36:0,36:0,0,18,18 3 133485371 131131529 G C 541 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=252;DEA=41;QA=36;PBP=256;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs1525891,g1000:0.1462,GnomAD_AC_genome:6221,GnomAD_AN_genome:30916,GnomAD:0.2012;SGVEP=TF|+|NM_001063|12|c.1486+94G>C|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,9,10 3 133486958 131131838 G C 1229 PASS VARTYPE=1;BGN=0.000983543;ARL=201;DEA=99;QA=38;PBP=631;PBM=601;TYPE=SNP;DBXREF=dbSNP:rs8649,g1000:0.2125,esp5400:0.2739,ExAC:0.2220,clinvar:rs8649,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:53807,GnomAD_AN_exome:246168,GnomAD_AC_genome:8056,GnomAD_AN_genome:30938,GnomAD:0.2232;SGVEP=TF|+|NM_001063|13|c.1572G>C|p.(Leu524:)|synonymous GT:DP:AD:DP4 1/1:41:0,41:0,0,21,20 3 133654488 131179202 G A 152 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=285;DER=45;DEA=66;QR=30;QA=36;PBP=102;PBM=52;SP=0;TYPE=SNP;DBXREF=dbSNP:rs56078520,g1000:0.1012,GnomAD_AC_genome:3932,GnomAD_AN_genome:30906,GnomAD:0.1272;SGVEP=SLCO2A1|-|NM_005630|13|c.1814+130C>T|.|intronic GT:DP:AD:DP4 0/1:9:3,6:2,1,4,2 3 133661684 131181250 C T 780 off_target VARTYPE=1;BGN=0.000983543;ARL=256;DER=43;DEA=32;QR=37;QA=38;PBP=366;PBM=422;TYPE=SNP;DBXREF=dbSNP:rs35473313,g1000:0.0721,GnomAD_AC_genome:3664,GnomAD_AN_genome:30946,GnomAD:0.1184;SGVEP=SLCO2A1|-|NM_005630|11|c.1462-72G>A|.|intronic GT:DP:AD:DP4 0/1:46:16,30:8,8,14,16 3 133663824 131181758 A AGT 138 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=251;DER=28;DEA=19;QR=36;QA=76;PBP=97;PBM=46;SP=2;TYPE=INDEL;DBXREF=dbSNP:rs397776360,g1000:0.2446,GnomAD_AC_genome:9442,GnomAD_AN_genome:30756,GnomAD:0.3070;SGVEP=SLCO2A1|-|NM_005630|10|c.1461+113_1461+114dup|.|intronic GT:DP:AD:DP4 0/1:18:12,6:6,6,4,2 3 133664067 131181975 G A 571 PASS VARTYPE=1;BGN=0.00118013;ARL=225;DER=103;DEA=97;QR=37;QA=37;PBP=301;PBM=278;TYPE=SNP;DBXREF=dbSNP:rs146970901,g1000:0.0012,esp5400:0.0014,ExAC:0.0018,PhyloP:1.3530,SIFT:0.8250,PolyPhen2:0.8910,PolyPhen2_HumDiv:0.9990,LRT:0.6270,MutationTaster:0.0000,GERP:3.7400,GnomAD_AC_exome:546,GnomAD_AN_exome:245252,GnomAD_AC_genome:90,GnomAD_AN_genome:30960,GnomAD:0.0023;SGVEP=SLCO2A1|-|NM_005630|10|c.1333C>T|p.(Arg445Cys)|missense GT:DP:AD:DP4 0/1:84:57,27:29,28,14,13 3 133692497 131189056 A G 494 off_target VARTYPE=1;BGN=0.00118013;ARL=244;DER=55;DEA=53;QR=37;QA=37;PBP=235;PBM=266;TYPE=SNP;DBXREF=dbSNP:rs4634113,g1000:0.9046,esp5400:0.8714,ExAC:0.8740,GnomAD_AC_exome:214072,GnomAD_AN_exome:244584,GnomAD_AC_genome:26972,GnomAD_AN_genome:30956,GnomAD:0.8748;SGVEP=SLCO2A1|-|NM_005630|3|c.397+10T>C|.|intronic GT:DP:AD:DP4 0/1:43:22,21:12,10,10,11 3 133692743 131192206 C T 441 off_target VARTYPE=1;BGN=0.00141601;ARL=257;DER=55;DEA=74;QR=35;QA=36;PBP=212;PBM=235;TYPE=SNP;DBXREF=dbSNP:rs4241362,g1000:0.9048,GnomAD_AC_genome:26967,GnomAD_AN_genome:30950,GnomAD:0.8713;SGVEP=SLCO2A1|-|NM_005630|3|c.235-74G>A|.|intronic GT:DP:AD:DP4 0/1:36:17,19:8,9,9,10 3 133698280 131192770 C G 1081 off_target VARTYPE=1;BGN=0.00118013;ARL=229;DEA=51;QA=37;PBP=585;PBM=497;TYPE=SNP;DBXREF=dbSNP:rs4640563,g1000:0.8970,esp5400:0.8805,ExAC:0.8960,GnomAD_AC_exome:221117,GnomAD_AN_exome:245950,GnomAD_AC_genome:27722,GnomAD_AN_genome:30932,GnomAD:0.8987;SGVEP=SLCO2A1|-|NM_005630|2|c.234+45G>C|.|intronic GT:DP:AD:DP4 1/1:37:0,37:0,0,20,17 3 133941504 131256800 G A 130 off_target VARTYPE=1;BGN=0.000983543;ARL=229;DER=51;DEA=17;QR=36;QA=38;PBP=68;PBM=67;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9865808,g1000:0.2318,GnomAD_AC_genome:9962,GnomAD_AN_genome:30900,GnomAD:0.3224;SGVEP=RYK|-|NM_001005861|4|c.227-121C>T|.|intronic GT:DP:AD:DP4 0/1:23:17,6:8,9,3,3 3 133969437 131264525 AG AGG 2196 PASS VARTYPE=1;BGN=0.00203864;ARL=206;DER=14;DEA=98;QR=33;QA=34;PBP=1084;PBM=1125;TYPE=INDEL;DBXREF=dbSNP:rs587770426,g1000:0.9982,GnomAD_AC_exome:4,GnomAD_AN_exome:4,GnomAD_AC_genome:25310,GnomAD_AN_genome:25310,GnomAD:1.0000;SGVEP=RYK|-|NM_001005861|3|c.56-1dupC|p.(Val19Alafs*60)|frameshift GT:DP:AD:DP4 1/1:94:3,86:2,1,43,43 3 133969487 131264529 GCCC GCCCC 2789 PASS VARTYPE=1;BGN=0.017025;ARL=189;DER=67;DEA=84;QR=25;QA=36;HL=3;PBP=1380;PBM=1414;TYPE=INDEL;DBXREF=dbSNP:rs587744425,g1000:0.9990,GnomAD_AC_genome:24798,GnomAD_AN_genome:24798,GnomAD:1.0000;SGVEP=RYK|-|NM_001005861|2|c.8-1dupG|p.(Ala3Glyfs*76)|frameshift GT:DP:AD:DP4 1/1:164:1,161:1,0,80,81 3 133969655 131264535 GCGC G 531 off_target VARTYPE=1;BGN=0.000983543;ARL=226;DER=28;DEA=86;QR=32;QA=108;PBP=294;PBM=242;TYPE=INDEL;DBXREF=dbSNP:rs200139418,g1000:0.8371,GnomAD_AC_genome:21131,GnomAD_AN_genome:29060,GnomAD:0.7272;SGVEP=RYK|-|NM_001005861|1|.|.|intergenic GT:DP:AD:DP4 0/1:29:9,20:5,4,11,9 3 134226159 131324821 C T 930 off_target VARTYPE=1;BGN=0.000983543;ARL=228;DEA=45;QA=38;PBP=451;PBM=481;TYPE=SNP;DBXREF=dbSNP:rs6766818,g1000:0.7087,esp5400:0.6423,ExAC:0.6990,GnomAD_AC_exome:171003,GnomAD_AN_exome:241676,GnomAD_AC_genome:20935,GnomAD_AN_genome:30934,GnomAD:0.7041;SGVEP=CEP63|+|NM_001042383|3|c.222+31C>T|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,15,16 3 134256159 131330817 A G 1750 off_target VARTYPE=1;BGN=0.00118013;ARL=224;DEA=46;QA=37;PBP=877;PBM=877;TYPE=SNP;DBXREF=dbSNP:rs12634127,g1000:0.4000,esp5400:0.3756,ExAC:0.4810,GnomAD_AC_exome:120324,GnomAD_AN_exome:239368,GnomAD_AC_genome:12612,GnomAD_AN_genome:30872,GnomAD:0.4919;SGVEP=CEP63|+|NM_001042383|6|c.555+49A>G|.|intronic GT:DP:AD:DP4 1/1:60:0,60:0,0,30,30 3 134266148 131333578 G C 935 off_target VARTYPE=1;BGN=0.00118013;ARL=225;DEA=39;QA=37;PBP=468;PBM=468;TYPE=SNP;DBXREF=dbSNP:rs12632372,g1000:0.9956,esp5400:0.9955,ExAC:0.9990,GnomAD_AC_exome:245517,GnomAD_AN_exome:245746,GnomAD_AC_genome:30862,GnomAD_AN_genome:30958,GnomAD:0.9988;SGVEP=CEP63|+|NM_001042383|8|c.929+1018G>C|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,16,16 3 134278270 77239 C T 1110 PASS VARTYPE=1;BGN=0.00118013;ARL=238;DEA=54;QA=37;PBP=556;PBM=556;TYPE=SNP;DBXREF=dbSNP:rs1127826,g1000:0.3271,esp5400:0.2609,ExAC:0.3570,PhyloP:-0.7370,SIFT:0.6720,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0010,LRT:0.5530,MutationTaster:1.0000,GERP:-2.9300,clinvar:rs1127826,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:91112,GnomAD_AN_exome:244610,GnomAD_AC_genome:9359,GnomAD_AN_genome:30894,GnomAD:0.3647;SGVEP=CEP63|+|NM_025180|15|c.1952C>T|p.(Ser651Leu)|missense GT:DP:AD:DP4 1/1:38:0,38:0,0,19,19 3 134280395 131338455 T A 1256 off_target VARTYPE=1;BGN=0.00118013;ARL=219;DEA=57;QA=37;PBP=643;PBM=614;TYPE=SNP;DBXREF=dbSNP:rs6777283,g1000:0.9968,esp5400:0.9983,ExAC:0.9990,GnomAD_AC_exome:234755,GnomAD_AN_exome:234836,GnomAD_AC_genome:30950,GnomAD_AN_genome:30986,GnomAD:0.9996;SGVEP=CEP63|+|NM_001042384|11|c.1329+9541T>A|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,22,21 3 134293619 131341442 A G 853 off_target VARTYPE=1;BGN=0.00141601;ARL=256;DEA=46;QA=36;PBP=427;PBM=427;TYPE=SNP;DBXREF=dbSNP:rs4586863,g1000:0.9876,esp5400:0.9912,ExAC:0.9970,GnomAD_AC_exome:70778,GnomAD_AN_exome:70950,GnomAD_AC_genome:30585,GnomAD_AN_genome:30892,GnomAD:0.9953;SGVEP=CEP63|+|NM_001042384|12|c.1330-16A>G|.|intronic GT:DP:AD:DP4 1/1:30:0,30:0,0,15,15 3 136035737 131789011 A G 995 off_target VARTYPE=1;BGN=0.00141601;ARL=228;DEA=49;QA=36;PBP=484;PBM=512;TYPE=SNP;DBXREF=dbSNP:rs9833162,g1000:0.2863,esp5400:0.3918,ExAC:0.3040,clinvar:rs9833162,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:72552,GnomAD_AN_exome:245816,GnomAD_AC_genome:11066,GnomAD_AN_genome:30930,GnomAD:0.3021;SGVEP=PCCB|+|NM_000532|10|c.967-46A>G|.|intronic GT:DP:AD:DP4 1/1:35:0,35:0,0,17,18 3 136573289 131904476 G A 585 off_target VARTYPE=1;BGN=0.00118013;ARL=218;DEA=56;QA=37;PBP=293;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs9865545,g1000:0.7021,esp5400:0.6603,ExAC:0.7070,GnomAD_AC_exome:148267,GnomAD_AN_exome:209768,GnomAD_AC_genome:20918,GnomAD_AN_genome:30902,GnomAD:0.7030;SGVEP=SLC35G2|+|NM_001097599|2|c.-14G>A|.|5'UTR GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 3 136573440 131904600 A G 1372 PASS VARTYPE=1;BGN=0.00118013;ARL=224;DER=22;DEA=102;QR=11;QA=37;PBP=731;PBM=643;TYPE=SNP;DBXREF=dbSNP:rs9827648,g1000:0.7049,esp5400:0.6650,ExAC:0.7130,GnomAD_AC_exome:175763,GnomAD_AN_exome:245130,GnomAD_AC_genome:21009,GnomAD_AN_genome:30850,GnomAD:0.7130;SGVEP=SLC35G2|+|NM_001097599|2|c.138A>G|p.(Gly46:)|synonymous GT:DP:AD:DP4 1/1:47:0,47:0,0,25,22 3 136574239 131905073 T C 503 PASS VARTYPE=1;BGN=0.000983543;ARL=233;DER=102;DEA=122;QR=38;QA=38;PBP=255;PBM=255;TYPE=SNP;DBXREF=dbSNP:rs114566691,g1000:0.0114,esp5400:0.0195,ExAC:0.0200,GnomAD_AC_exome:5512,GnomAD_AN_exome:245990,GnomAD_AC_genome:672,GnomAD_AN_genome:30970,GnomAD:0.0223;SGVEP=SLC35G2|+|NM_001097599|2|c.937T>C|p.(Leu313:)|synonymous GT:DP:AD:DP4 0/1:58:36,22:18,18,11,11 3 136574501 131905220 A G 468 low_coverage VARTYPE=1;BGN=0.00118013;ARL=253;DEA=30;QA=37;PBP=205;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs1052618,g1000:0.7129,esp5400:0.6716,ExAC:0.7150,PhyloP:1.4800,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:5.7900,GnomAD_AC_exome:176686,GnomAD_AN_exome:245834,GnomAD_AC_genome:21169,GnomAD_AN_genome:30878,GnomAD:0.7150;SGVEP=SLC35G2|+|NM_001097599|2|c.1199A>G|p.(Lys400Arg)|missense GT:DP:AD:DP4 1/1:16:0,16:0,0,7,9 3 136574521 131905228 C T 370 low_coverage VARTYPE=1;BGN=0.00141601;ARL=248;DEA=16;QA=36;PBP=142;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs1052620,g1000:0.0877,esp5400:0.1694,ExAC:0.1850,GnomAD_AC_exome:45641,GnomAD_AN_exome:245720,GnomAD_AC_genome:5135,GnomAD_AN_genome:30906,GnomAD:0.1836;SGVEP=SLC35G2|+|NM_001097599|2|c.1219C>T|p.(Leu407:)|synonymous GT:DP:AD:DP4 1/1:13:0,13:0,0,5,8 3 136677064 131925446 A G 287 off_target VARTYPE=1;BGN=0.00118013;ARL=233;DER=60;DEA=71;QR=37;QA=37;PBP=146;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs6773440,g1000:0.0403,esp5400:0.0944,ExAC:0.0840,GnomAD_AC_exome:20333,GnomAD_AN_exome:242238,GnomAD_AC_genome:2318,GnomAD_AN_genome:30968,GnomAD:0.0829;SGVEP=IL20RB|+|NM_144717|1|c.88+21A>G|.|intronic GT:DP:AD:DP4 0/1:24:12,12:6,6,6,6 3 137843106 132186009 T C 637 PASS VARTYPE=1;BGN=0.000983543;ARL=225;DER=66;DEA=72;QR=37;QA=38;PBP=320;PBM=323;TYPE=SNP;DBXREF=dbSNP:rs2170309,g1000:0.6542,esp5400:0.6595,ExAC:0.6530,GnomAD_AC_exome:159741,GnomAD_AN_exome:243988,GnomAD_AC_genome:20210,GnomAD_AN_genome:30886,GnomAD:0.6547;SGVEP=A4GNT|-|NM_016161|3|c.1023A>G|p.(*341:)|synonymous GT:DP:AD:DP4 0/1:51:25,26:13,12,13,13 3 137843476 132186502 G T 993 PASS VARTYPE=1;BGN=0.00118013;ARL=227;DER=112;DEA=100;QR=36;QA=37;PBP=512;PBM=491;TYPE=SNP;DBXREF=dbSNP:rs2246945,g1000:0.6538,esp5400:0.6592,ExAC:0.6520,PhyloP:-1.0550,SIFT:0.0860,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0000,LRT:0.4490,MutationTaster:0.0000,GERP:-1.8300,GnomAD_AC_exome:161031,GnomAD_AN_exome:246254,GnomAD_AC_genome:20235,GnomAD_AN_genome:30916,GnomAD:0.6540;SGVEP=A4GNT|-|NM_016161|3|c.653C>A|p.(Ala218Asp)|missense GT:DP:AD:DP4 0/1:91:48,43:25,23,22,21 3 137850003 132188551 A G 1170 PASS VARTYPE=1;BGN=0.00118013;ARL=224;DER=100;DEA=104;QR=37;QA=37;PBP=590;PBM=592;TYPE=SNP;DBXREF=dbSNP:rs2724691,g1000:0.6140,esp5400:0.6429,ExAC:0.6390,GnomAD_AC_exome:157793,GnomAD_AN_exome:245844,GnomAD_AC_genome:19535,GnomAD_AN_genome:30748,GnomAD:0.6411;SGVEP=A4GNT|-|NM_016161|2|c.96T>C|p.(Cys32:)|synonymous GT:DP:AD:DP4 0/1:175:119,56:60,59,28,28 3 142168331 77331 C T 2012 PASS VARTYPE=1;BGN=0.00118013;ARL=208;DEA=70;QA=37;PBP=1023;PBM=993;TYPE=SNP;DBXREF=dbSNP:rs1802904,g1000:0.9163,esp5400:0.8977,ExAC:0.8650,clinvar:rs1802904,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:211108,GnomAD_AN_exome:246216,GnomAD_AC_genome:27471,GnomAD_AN_genome:30936,GnomAD:0.8608;SGVEP=ATR|-|NM_001184|47|c.7875G>A|p.(Gln2625:)|synonymous GT:DP:AD:DP4 1/1:69:0,69:0,0,35,34 3 142178115 133180843 T C 752 PASS VARTYPE=1;BGN=0.000983543;ARL=191;DER=74;DEA=53;QR=38;QA=38;PBP=394;PBM=366;TYPE=SNP;DBXREF=dbSNP:rs149045116,esp5400:0.0005,ExAC:0.0003,PhyloP:0.4130,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.9910,MutationTaster:0.0140,GERP:2.6800,GnomAD_AC_exome:58,GnomAD_AN_exome:246112,GnomAD_AC_genome:10,GnomAD_AN_genome:30938,GnomAD:0.0002;SGVEP=ATR|-|NM_001184|43|c.7303A>G|p.(Ile2435Val)|missense GT:DP:AD:DP4 0/1:45:16,29:8,8,15,14 3 142215178 77353 A C 211 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=217;DER=4;DEA=43;QR=36;QA=36;PBP=79;PBM=135;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7620648,esp5400:0.6248,clinvar:rs7620648,CLNSIG:Likely_benign,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:88441,GnomAD_AN_exome:173068,GnomAD_AC_genome:7083,GnomAD_AN_genome:10608,GnomAD:0.5201;SGVEP=ATR|-|NM_001184|34|c.5898+25T>G|.|intronic GT:DP:AD:DP4 1/1:10:2,8:1,1,3,5 3 142217537 77362 A G 257 PASS VARTYPE=1;BGN=0.00118013;ARL=204;DER=80;DEA=93;QR=38;QA=37;PBP=143;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs2227932,g1000:0.0669,esp5400:0.0767,ExAC:0.0930,clinvar:rs2227932,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:22781,GnomAD_AN_exome:245766,GnomAD_AC_genome:2521,GnomAD_AN_genome:30952,GnomAD:0.0914;SGVEP=ATR|-|NM_001184|32|c.5460T>C|p.(Tyr1820:)|synonymous GT:DP:AD:DP4 0/1:57:44,13:22,22,7,6 3 142987912 133315555 C T 541 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=259;DEA=46;QA=36;PBP=256;PBM=285;TYPE=SNP;DBXREF=dbSNP:rs2289492,g1000:0.1512,GnomAD_AC_genome:4547,GnomAD_AN_genome:30948,GnomAD:0.1469;SGVEP=SLC9A9|-|NM_173653|15|c.1605-90G>A|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,9,10 3 143185836 133351459 C T 564 off_target VARTYPE=1;BGN=0.00141601;ARL=252;DER=63;DEA=66;QR=37;QA=36;PBP=287;PBM=284;TYPE=SNP;DBXREF=dbSNP:rs16853643,g1000:0.1803,esp5400:0.2142,ExAC:0.1100,GnomAD_AC_exome:23638,GnomAD_AN_exome:228800,GnomAD_AC_genome:5647,GnomAD_AN_genome:30942,GnomAD:0.1127;SGVEP=SLC9A9|-|NM_173653|12|c.1469+43G>A|.|intronic GT:DP:AD:DP4 0/1:43:19,24:9,10,12,12 3 143186135 133351648 T A 143 low_coverage;off_target VARTYPE=1;BGN=0.00169904;ARL=256;DER=48;DEA=25;QR=31;QA=35;PBP=73;PBM=73;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7640246,g1000:0.1707,GnomAD_AC_genome:5270,GnomAD_AN_genome:30936,GnomAD:0.1704;SGVEP=SLC9A9|-|NM_173653|12|c.1316-103A>T|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 3 143214114 133355360 T C 575 off_target VARTYPE=1;BGN=0.00141601;ARL=251;DER=44;DEA=45;QR=37;QA=36;PBP=291;PBM=291;TYPE=SNP;DBXREF=dbSNP:rs838598,g1000:0.4097,GnomAD_AC_genome:13219,GnomAD_AN_genome:30852,GnomAD:0.4285;SGVEP=SLC9A9|-|NM_173653|10|c.1203+63A>G|.|intronic GT:DP:AD:DP4 0/1:40:16,24:8,8,12,12 3 143412268 133397819 T C 223 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=274;DER=57;DEA=21;QR=38;QA=36;PBP=107;PBM=121;TYPE=SNP;DBXREF=dbSNP:rs12488981,g1000:0.4782,GnomAD_AC_genome:12914,GnomAD_AN_genome:30856,GnomAD:0.4185;SGVEP=SLC9A9|-|NM_173653|5|c.534-119A>G|.|intronic GT:DP:AD:DP4 0/1:14:5,9:1,4,4,5 3 143513975 133413621 A G 220 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=245;DER=52;DEA=30;QR=38;QA=37;PBP=99;PBM=125;SP=0;TYPE=SNP;DBXREF=dbSNP:rs56969315,g1000:0.2889,esp5400:0.2294,GnomAD_AC_genome:7278,GnomAD_AN_genome:30870,GnomAD:0.2358;SGVEP=SLC9A9|-|NM_173653|4|c.457-56T>C|.|intronic GT:DP:AD:DP4 0/1:17:8,9:4,4,4,5 3 143567207 133419729 A G 1591 off_target VARTYPE=1;BGN=0.00141601;ARL=243;DEA=58;QA=36;PBP=825;PBM=768;TYPE=SNP;DBXREF=dbSNP:rs11714060,g1000:0.9501,esp5400:0.9400,ExAC:0.9710,GnomAD_AC_exome:239004,GnomAD_AN_exome:245594,GnomAD_AC_genome:29354,GnomAD_AN_genome:30954,GnomAD:0.9704;SGVEP=SLC9A9|-|NM_173653|1|c.-43T>C|.|5'UTR GT:DP:AD:DP4 1/1:56:0,56:0,0,29,27 3 145788467 133886680 T C 255 off_target VARTYPE=1;BGN=0.00118013;ARL=239;DER=50;DEA=39;QR=37;QA=37;PBP=170;PBM=92;SP=2;TYPE=SNP;DBXREF=dbSNP:rs6710,g1000:0.5112,esp5400:0.5200,ExAC:0.4970,clinvar:rs6710,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:118693,GnomAD_AN_exome:237704,GnomAD_AC_genome:16116,GnomAD_AN_genome:30780,GnomAD:0.5021;SGVEP=PLOD2|-|NM_000935|19|c.*37A>G|.|3'UTR GT:DP:AD:DP4 0/1:25:14,11:7,7,7,4 3 145788803 133886735 T C 407 off_target VARTYPE=1;BGN=0.00118013;ARL=238;DER=91;DEA=62;QR=38;QA=37;PBP=220;PBM=193;TYPE=SNP;DBXREF=dbSNP:rs2305274,g1000:0.5000,esp5400:0.5078,ExAC:0.4930,GnomAD_AC_exome:118684,GnomAD_AN_exome:238754,GnomAD_AC_genome:15826,GnomAD_AN_genome:30770,GnomAD:0.4991;SGVEP=PLOD2|-|NM_000935|18|c.2058+26A>G|.|intronic GT:DP:AD:DP4 0/1:33:16,17:8,8,9,8 3 145796891 133888474 T C 1663 off_target VARTYPE=1;BGN=0.00118013;ARL=217;DEA=49;QA=37;PBP=848;PBM=818;TYPE=SNP;DBXREF=dbSNP:rs73010484,g1000:0.2484,esp5400:0.2497,ExAC:0.2710,clinvar:rs73010484,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:66285,GnomAD_AN_exome:245902,GnomAD_AC_genome:7394,GnomAD_AN_genome:30850,GnomAD:0.2662;SGVEP=PLOD2|-|NM_000935|13|c.1500+12A>G|.|intronic GT:DP:AD:DP4 1/1:57:0,57:0,0,29,28 3 145803138 133890010 T C 157 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=264;DER=38;DEA=51;QR=38;QA=38;PBP=80;PBM=80;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1375583,g1000:0.5054,ExAC:0.4850,GnomAD_AC_exome:90630,GnomAD_AN_exome:175230,GnomAD_AC_genome:15783,GnomAD_AN_genome:30680,GnomAD:0.5168;SGVEP=PLOD2|-|NM_000935|11|c.1128-78A>G|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 3 145803142 133890033 T A 152 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=264;DER=34;DEA=47;QR=38;QA=37;PBP=78;PBM=78;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1375582,g1000:0.5132,ExAC:0.4890,PhyloP:-0.1930,SIFT:1.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:0.0000,GERP:-0.1730,GnomAD_AC_exome:85203,GnomAD_AN_exome:165504,GnomAD_AC_genome:15980,GnomAD_AN_genome:30676,GnomAD:0.5158;SGVEP=PLOD2|-|NM_000935|11|c.1128-82A>T|.|intronic GT:DP:AD:DP4 0/1:10:4,6:2,2,3,3 3 145809750 133891405 T C 218 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=244;DER=73;DEA=37;QR=30;QA=38;PBP=113;PBM=108;TYPE=SNP;DBXREF=dbSNP:rs3792341,g1000:0.5112,GnomAD_AC_genome:16134,GnomAD_AN_genome:30822,GnomAD:0.5235;SGVEP=PLOD2|-|NM_000935|8|c.778-62A>G|.|intronic GT:DP:AD:DP4 0/1:11:3,8:1,2,4,4 3 145820684 133893234 G A 235 off_target VARTYPE=1;BGN=0.00118013;ARL=238;DER=54;DEA=44;QR=37;QA=37;PBP=120;PBM=120;TYPE=SNP;DBXREF=dbSNP:rs3762691,g1000:0.4804,esp5400:0.4745,ExAC:0.4490,GnomAD_AC_exome:103075,GnomAD_AN_exome:217552,GnomAD_AC_genome:14885,GnomAD_AN_genome:30894,GnomAD:0.4748;SGVEP=PLOD2|-|NM_000935|7|c.680-45C>T|.|intronic GT:DP:AD:DP4 0/1:22:12,10:6,6,5,5 3 145824478 133893896 A G 625 off_target VARTYPE=1;BGN=0.00118013;ARL=235;DER=56;DEA=65;QR=35;QA=37;PBP=304;PBM=327;TYPE=SNP;DBXREF=dbSNP:rs9289716,g1000:0.4810,esp5400:0.4746,ExAC:0.4650,GnomAD_AC_exome:112881,GnomAD_AN_exome:242496,GnomAD_AC_genome:14873,GnomAD_AN_genome:30882,GnomAD:0.4673;SGVEP=PLOD2|-|NM_000935|5|c.503-47T>C|.|intronic GT:DP:AD:DP4 0/1:40:15,25:7,8,12,13 3 145838895 133895486 C T 1576 PASS VARTYPE=1;BGN=0.00118013;ARL=212;DEA=70;QA=37;PBP=789;PBM=789;TYPE=SNP;DBXREF=dbSNP:rs4681297,g1000:0.7817,esp5400:0.7834,ExAC:0.7660,clinvar:rs4681297,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:187328,GnomAD_AN_exome:245490,GnomAD_AC_genome:24006,GnomAD_AN_genome:30908,GnomAD:0.7646;SGVEP=PLOD2|-|NM_000935|3|c.338+4G>A|.|splice_donor_+4 GT:DP:AD:DP4 1/1:54:0,54:0,0,27,27 3 147121751 134154970 C T 1401 PASS VARTYPE=1;BGN=0.00118013;ARL=231;DEA=67;QA=37;PBP=731;PBM=672;TYPE=SNP;DBXREF=dbSNP:rs6766244,g1000:0.1426,esp5400:0.2035,ExAC:0.1490,clinvar:rs6766244,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:22948,GnomAD_AN_exome:134092,GnomAD_AC_genome:5367,GnomAD_AN_genome:30934,GnomAD:0.1716;SGVEP=ZIC4|-|NM_001168378|1|c.135G>A|p.(Lys45:)|synonymous GT:DP:AD:DP4 1/1:48:0,48:0,0,25,23 3 148459395 134470155 C T 1750 PASS VARTYPE=1;BGN=0.00118013;ARL=231;DEA=104;QA=37;PBP=935;PBM=818;TYPE=SNP;DBXREF=dbSNP:rs5182,g1000:0.4581,esp5400:0.3747,ExAC:0.4820,clinvar:rs5182,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:120470,GnomAD_AN_exome:245632,GnomAD_AC_genome:13413,GnomAD_AN_genome:30914,GnomAD:0.4841;SGVEP=AGTR1|+|NM_000685|3|c.573C>T|p.(Leu191:)|synonymous GT:DP:AD:DP4 1/1:60:0,60:0,0,32,28 3 148714025 134523747 C G 193 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=267;DER=60;DEA=61;QR=37;QA=37;PBP=99;PBM=99;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3772580,g1000:0.2899,GnomAD_AC_genome:8892,GnomAD_AN_genome:30924,GnomAD:0.2875;SGVEP=GYG1|+|NM_001184720|3|c.144-64C>G|.|intronic GT:DP:AD:DP4 0/1:16:8,8:4,4,4,4 3 148727133 134527530 G A 537 PASS VARTYPE=1;BGN=0.000983543;ARL=222;DER=108;DEA=110;QR=37;QA=38;PBP=259;PBM=287;TYPE=SNP;DBXREF=dbSNP:rs4938,g1000:0.3013,esp5400:0.2934,ExAC:0.3120,clinvar:rs4938,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:77404,GnomAD_AN_exome:246214,GnomAD_AC_genome:9420,GnomAD_AN_genome:30870,GnomAD:0.3133;SGVEP=GYG1|+|NM_001184720|5|c.552G>A|p.(Pro184:)|synonymous GT:DP:AD:DP4 0/1:85:60,25:31,29,12,13 3 148868361 134563429 C T 672 off_target VARTYPE=1;BGN=0.00118013;ARL=238;DER=79;DEA=61;QR=38;QA=37;PBP=363;PBM=316;TYPE=SNP;DBXREF=dbSNP:rs2689232,g1000:0.1863,esp5400:0.1669,ExAC:0.2130,clinvar:rs2689232,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:52284,GnomAD_AN_exome:245556,GnomAD_AC_genome:5941,GnomAD_AN_genome:30934,GnomAD:0.2106;SGVEP=HPS3|+|NM_001308258|5|c.669-25C>T|.|intronic GT:DP:AD:DP4 0/1:52:24,28:13,11,15,13 3 148872987 77466 G A 870 PASS VARTYPE=1;BGN=0.000983543;ARL=191;DEA=53;QA=38;PBP=421;PBM=451;TYPE=SNP;DBXREF=dbSNP:rs6440589,g1000:0.4902,esp5400:0.5204,ExAC:0.4560,clinvar:rs6440589,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:109197,GnomAD_AN_exome:245430,GnomAD_AC_genome:15853,GnomAD_AN_genome:30878,GnomAD:0.4526;SGVEP=HPS3|+|NM_001308258|7|c.999G>A|p.(Gln333:)|synonymous GT:DP:AD:DP4 1/1:29:0,29:0,0,14,15 3 148879878 134564909 A G 660 off_target VARTYPE=1;BGN=0.000983543;ARL=228;DEA=61;QA=38;PBP=331;PBM=331;TYPE=SNP;DBXREF=dbSNP:rs61615092,g1000:0.4313,GnomAD_AC_genome:14140,GnomAD_AN_genome:30896,GnomAD:0.4577;SGVEP=HPS3|+|NM_001308258|11|c.1612-57A>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 3 148879883 134564911 A G 173 off_target VARTYPE=1;BGN=0.00141601;ARL=228;DER=72;DEA=57;QR=38;QA=36;PBP=89;PBM=89;SP=0;TYPE=SNP;DBXREF=dbSNP:rs57943258,g1000:0.1653,esp5400:0.1817,GnomAD_AC_genome:5337,GnomAD_AN_genome:30924,GnomAD:0.1726;SGVEP=HPS3|+|NM_001308258|11|c.1612-52A>G|.|intronic GT:DP:AD:DP4 0/1:22:14,8:7,7,4,4 3 148881673 77472 C T 325 PASS VARTYPE=1;BGN=0.000983543;ARL=216;DER=101;DEA=61;QR=36;QA=38;PBP=165;PBM=165;TYPE=SNP;DBXREF=dbSNP:rs3732557,g1000:0.1554,esp5400:0.1421,ExAC:0.1870,clinvar:rs3732557,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:45607,GnomAD_AN_exome:244562,GnomAD_AC_genome:5380,GnomAD_AN_genome:30940,GnomAD:0.1851;SGVEP=HPS3|+|NM_001308258|13|c.2031C>T|p.(His677:)|synonymous GT:DP:AD:DP4 0/1:36:22,14:11,11,7,7 3 148885066 134565724 G A 227 low_coverage;off_target VARTYPE=1;BGN=0.00169904;ARL=233;DER=34;DEA=58;QR=33;QA=35;PBP=117;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs57192685,g1000:0.1280,esp5400:0.1294,ExAC:0.0780,GnomAD_AC_exome:16509,GnomAD_AN_exome:184910,GnomAD_AC_genome:3839,GnomAD_AN_genome:30920,GnomAD:0.0943;SGVEP=HPS3|+|NM_001308258|14|c.2301+39G>A|.|intronic GT:DP:AD:DP4 0/1:19:9,10:4,5,5,5 3 148885077 134565728 C T 415 low_coverage;off_target VARTYPE=1;BGN=0.00169904;ARL=245;DEA=44;QA=35;PBP=221;PBM=194;TYPE=SNP;DBXREF=dbSNP:rs2681092,g1000:0.4796,esp5400:0.4713,ExAC:0.3790,clinvar:rs2681092,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:73507,GnomAD_AN_exome:171632,GnomAD_AC_genome:14660,GnomAD_AN_genome:30870,GnomAD:0.4354;SGVEP=HPS3|+|NM_001308258|14|c.2301+50C>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 3 148889840 134566250 G A 545 off_target VARTYPE=1;BGN=0.00141601;ARL=240;DER=26;DEA=60;QR=37;QA=36;PBP=297;PBM=255;TYPE=SNP;DBXREF=dbSNP:rs138521782,g1000:0.0052,esp5400:0.0096,ExAC:0.0096,GnomAD_AC_exome:2267,GnomAD_AN_exome:243752,GnomAD_AC_genome:240,GnomAD_AN_genome:30936,GnomAD:0.0091;SGVEP=HPS3|+|NM_001308258|16|c.2393-42G>A|.|intronic GT:DP:AD:DP4 0/1:49:25,24:14,11,13,11 3 148896430 77488 A G 1165 off_target VARTYPE=1;BGN=0.00141601;ARL=215;DEA=54;QA=36;PBP=541;PBM=626;TYPE=SNP;DBXREF=dbSNP:rs16861582,g1000:0.3423,esp5400:0.3296,ExAC:0.2950,clinvar:rs16861582,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:69749,GnomAD_AN_exome:236360,GnomAD_AC_genome:10696,GnomAD_AN_genome:30908,GnomAD:0.3010;SGVEP=CP|-|NM_000096|16|c.2662-12T>C|.|intronic GT:DP:AD:DP4 1/1:41:0,41:0,0,19,22 3 148901405 134567893 AAC A 152 off_target VARTYPE=1;BGN=0.000983543;ARL=211;DER=37;DEA=61;QR=37;QA=76;PBP=79;PBM=78;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs201677287,g1000:0.0008,ExAC:0.0057;SGVEP=CP|-|NM_000096|13|c.2286-15_2286-14del|.|intronic GT:DP:AD:DP4 0/1:52:44,8:21,23,4,4 3 148901406 134567896 AC A 156 off_target VARTYPE=1;BGN=0.000983543;ARL=218;DER=42;DEA=42;QR=38;QA=38;PBP=87;PBM=83;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs143522213,g1000:0.2626,ExAC:0.2230,clinvar:rs143522213,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:43446,GnomAD_AN_exome:218568,GnomAD_AC_genome:8828,GnomAD_AN_genome:30230,GnomAD:0.2101;SGVEP=CP|-|NM_000096|13|c.2286-15del|.|intronic GT:DP:AD:DP4 0/1:46:29,8:13,16,4,4 3 148916235 77509 T A 2041 PASS VARTYPE=1;BGN=0.00118013;ARL=213;DEA=84;QA=37;PBP=993;PBM=1052;TYPE=SNP;DBXREF=dbSNP:rs701753,g1000:0.8622,esp5400:0.8510,ExAC:0.9160,PhyloP:-0.8030,SIFT:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:-2.4800,clinvar:rs701753,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:226830,GnomAD_AN_exome:245738,GnomAD_AC_genome:27134,GnomAD_AN_genome:30948,GnomAD:0.9179;SGVEP=CP|-|NM_000096|9|c.1632A>T|p.(Glu544Asp)|missense GT:DP:AD:DP4 1/1:70:0,70:0,0,34,36 3 149260193 134623676 TCTG T 130 low_variant_fraction VARTYPE=1;BGN=0.000983543;ARL=213;DER=95;DEA=84;QR=37;QA=101;PBP=77;PBM=59;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs772805489,GnomAD_AC_exome:7,GnomAD_AN_exome:240278,GnomAD:0.0000;SGVEP=WWTR1|-|NM_001168278|5|c.697_699del|p.(Gln233del)|inframe_3 GT:DP:AD:DP4 0/1:157:148,9:74,74,5,4 3 150661495 134875310 T C 381 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=266;DER=51;DEA=31;QR=37;QA=37;PBP=189;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs6801898,g1000:0.5134,GnomAD_AC_genome:17125,GnomAD_AN_genome:30908,GnomAD:0.5541;SGVEP=CLRN1|-|NM_001195794|2|c.254-1947A>G|.|intronic GT:DP:AD:DP4 1/1:17:3,14:2,1,7,7 3 150661842 134875446 T G 520 off_target VARTYPE=1;BGN=0.00118013;ARL=252;DER=37;DEA=53;QR=32;QA=37;PBP=254;PBM=273;TYPE=SNP;DBXREF=dbSNP:rs11914988,g1000:0.2720,GnomAD_AC_genome:6466,GnomAD_AN_genome:30914,GnomAD:0.2092;SGVEP=CLRN1|-|NM_001195794|2|c.254-2294A>C|.|intronic GT:DP:AD:DP4 0/1:35:14,21:6,8,10,11 3 150690439 77561 T A 1342 PASS VARTYPE=1;BGN=0.00141601;ARL=211;DER=94;DEA=97;QR=36;QA=36;PBP=650;PBM=702;TYPE=SNP;DBXREF=dbSNP:rs3796242,g1000:0.1336,esp5400:0.1104,ExAC:0.1320,clinvar:rs3796242,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:33111,GnomAD_AN_exome:246094,GnomAD_AC_genome:3915,GnomAD_AN_genome:30934,GnomAD:0.1337;SGVEP=CLRN1|-|NM_001195794|1|c.57A>T|p.(Ala19:)|synonymous GT:DP:AD:DP4 0/1:106:48,58:24,24,28,30 3 151056598 134944979 A C 2389 PASS VARTYPE=1;BGN=0.00118013;ARL=242;DEA=104;QA=37;PBP=1197;PBM=1197;TYPE=SNP;DBXREF=dbSNP:rs6809699,g1000:0.9115,esp5400:0.8826,ExAC:0.8700,clinvar:rs6809699,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:213330,GnomAD_AN_exome:245744,GnomAD_AC_genome:27062,GnomAD_AN_genome:30920,GnomAD:0.8689;SGVEP=P2RY12|-|NM_022788|3|c.36T>G|p.(Gly12:)|synonymous GT:DP:AD:DP4 1/1:82:0,82:0,0,41,41 3 151463421 135032996 G T 564 PASS VARTYPE=1;BGN=0.00118013;ARL=203;DER=93;DEA=63;QR=37;QA=37;PBP=274;PBM=297;TYPE=SNP;DBXREF=dbSNP:rs1972977,g1000:0.7067,esp5400:0.7004,ExAC:0.6720,PhyloP:-0.5730,SIFT:0.0000,PolyPhen2:0.0060,PolyPhen2_HumDiv:0.0000,LRT:0.9880,MutationTaster:0.0000,GERP:-3.3400,GnomAD_AC_exome:162834,GnomAD_AN_exome:244386,GnomAD_AC_genome:21634,GnomAD_AN_genome:30876,GnomAD:0.6702;SGVEP=AADACL2|+|NM_207365|4|c.556G>T|p.(Ala186Ser)|missense GT:DP:AD:DP4 0/1:60:35,25:17,18,12,13 3 151535422 135055706 G A 1336 off_target VARTYPE=1;BGN=0.00141601;ARL=235;DEA=52;QA=36;PBP=654;PBM=683;TYPE=SNP;DBXREF=dbSNP:rs2271942,g1000:0.7382,esp5400:0.7876,ExAC:0.7590,GnomAD_AC_exome:181995,GnomAD_AN_exome:240532,GnomAD_AC_genome:23372,GnomAD_AN_genome:30848,GnomAD:0.7568;SGVEP=AADAC|+|NM_001086|2|c.361+46G>A|.|intronic GT:DP:AD:DP4 1/1:47:0,47:0,0,23,24 3 151542408 135056806 AAAAC A 421 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=209;DEA=46;QA=151;PBP=180;PBM=240;TYPE=INDEL;DBXREF=dbSNP:rs573403534,g1000:0.7344,ExAC:0.7360,GnomAD_AC_exome:87441,GnomAD_AN_exome:118018,GnomAD_AC_genome:22891,GnomAD_AN_genome:30618,GnomAD:0.7423;SGVEP=AADAC|+|NM_001086|4|c.432-35_432-32del|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,6,8 3 151542737 135057000 G A 351 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=281;DEA=49;QA=37;PBP=176;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs13098550,g1000:0.7346,GnomAD_AC_genome:23121,GnomAD_AN_genome:30786,GnomAD:0.7510;SGVEP=AADAC|+|NM_001086|4|c.603+115G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 3 151545318 135057422 A T 643 off_target VARTYPE=1;BGN=0.00118013;ARL=231;DEA=53;QA=37;PBP=322;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs2410837,g1000:0.7344,esp5400:0.7474,ExAC:0.7440,GnomAD_AC_exome:123636,GnomAD_AN_exome:166596,GnomAD_AC_genome:22849,GnomAD_AN_genome:30562,GnomAD:0.7430;SGVEP=AADAC|+|NM_001086|5|c.604-46A>T|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 3 151545321 135057433 GTTTT GTTT 368 off_target VARTYPE=1;BGN=0.0212044;ARL=231;DEA=56;QA=38;HL=4;PBP=184;PBM=184;TYPE=INDEL;DBXREF=dbSNP:rs869183137,ExAC:0.7440,GnomAD_AC_exome:124357,GnomAD_AN_exome:167520,GnomAD_AC_genome:22857,GnomAD_AN_genome:30582,GnomAD:0.7431;SGVEP=AADAC|+|NM_001086|5|c.604-39del|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 3 151545323 135057440 T G 660 off_target VARTYPE=1;BGN=0.000983543;ARL=231;DEA=57;QA=38;PBP=331;PBM=331;TYPE=SNP;DBXREF=dbSNP:rs62272918,GnomAD_AC_exome:124480,GnomAD_AN_exome:167752,GnomAD_AC_genome:22854,GnomAD_AN_genome:30590,GnomAD:0.7428;SGVEP=AADAC|+|NM_001086|5|c.604-41T>G|.|intronic GT:DP:AD:DP4 1/1:22:0,22:0,0,11,11 3 151545601 135057591 G A 2534 PASS VARTYPE=1;BGN=0.00118013;ARL=236;DEA=115;QA=37;PBP=1256;PBM=1285;TYPE=SNP;DBXREF=dbSNP:rs1803155,g1000:0.7344,esp5400:0.7793,ExAC:0.7580,PhyloP:1.0060,SIFT:0.9740,PolyPhen2:0.2420,PolyPhen2_HumDiv:0.7210,LRT:1.0000,MutationTaster:1.0000,GERP:3.9400,GnomAD_AC_exome:184639,GnomAD_AN_exome:245060,GnomAD_AC_genome:23156,GnomAD_AN_genome:30848,GnomAD:0.7531;SGVEP=AADAC|+|NM_001086|5|c.841G>A|p.(Val281Ile)|missense GT:DP:AD:DP4 1/1:87:0,87:0,0,43,44 3 152018223 135141427 T G 276 off_target VARTYPE=1;BGN=0.00118013;ARL=226;DER=41;DEA=42;QR=37;QA=37;PBP=141;PBM=141;TYPE=SNP;DBXREF=dbSNP:rs17368446,g1000:0.0425,GnomAD_AC_genome:2114,GnomAD_AN_genome:30964,GnomAD:0.0683;SGVEP=MBNL1|+|NM_001314057|1|c.-176+31342T>G|.|intronic GT:DP:AD:DP4 0/1:28:16,12:8,8,6,6 3 154802742 135699441 T G 305 off_target VARTYPE=1;BGN=0.000983543;ARL=227;DER=64;DEA=83;QR=36;QA=38;PBP=155;PBM=157;TYPE=SNP;DBXREF=dbSNP:rs28617565,g1000:0.1078,GnomAD_AC_genome:3804,GnomAD_AN_genome:30902,GnomAD:0.1231;SGVEP=MME|+|NM_000902|3|c.161-106T>G|.|intronic GT:DP:AD:DP4 0/1:47:33,14:17,16,7,7 3 154802920 135699532 T C 629 off_target VARTYPE=1;BGN=0.00141601;ARL=218;DER=81;DEA=116;QR=37;QA=36;PBP=307;PBM=330;TYPE=SNP;DBXREF=dbSNP:rs4607069,g1000:0.1096,esp5400:0.0961,ExAC:0.1060,GnomAD_AC_exome:23788,GnomAD_AN_exome:221320,GnomAD_AC_genome:2964,GnomAD_AN_genome:30954,GnomAD:0.1060;SGVEP=MME|+|NM_000902|3|c.196+37T>C|.|intronic GT:DP:AD:DP4 0/1:70:41,29:20,21,14,15 3 154886278 135711056 T C 607 PASS VARTYPE=1;BGN=0.00118013;ARL=226;DER=63;DEA=70;QR=38;QA=37;PBP=307;PBM=307;TYPE=SNP;DBXREF=dbSNP:rs3736187,g1000:0.1536,esp5400:0.1181,ExAC:0.1030,GnomAD_AC_exome:24490,GnomAD_AN_exome:243720,GnomAD_AC_genome:4126,GnomAD_AN_genome:30908,GnomAD:0.1042;SGVEP=MME|+|NM_000902|19|c.1781-3T>C|.|intronic GT:DP:AD:DP4 0/1:54:28,26:14,14,13,13 3 154890530 135714997 A C 168 low_coverage;off_target VARTYPE=1;BGN=0.00203864;ARL=225;DER=59;DEA=27;QR=29;QA=34;PBP=49;PBM=121;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3816802,g1000:0.1528,GnomAD_AC_genome:3415,GnomAD_AN_genome:26856,GnomAD:0.1272;SGVEP=MME|+|NM_000902|22|c.2153+129A>C|.|intronic GT:DP:AD:DP4 0/1:10:3,7:1,2,2,5 3 154898127 135716743 A G 563 off_target VARTYPE=1;BGN=0.00118013;ARL=205;DER=80;DEA=46;QR=36;QA=37;PBP=296;PBM=273;TYPE=SNP;DBXREF=dbSNP:rs16824656,g1000:0.1536,esp5400:0.1164,ExAC:0.1040,GnomAD_AC_exome:24817,GnomAD_AN_exome:245464,GnomAD_AC_genome:4118,GnomAD_AN_genome:30926,GnomAD:0.1047;SGVEP=MME|+|NM_000902|23|c.2154-22A>G|.|intronic GT:DP:AD:DP4 0/1:40:17,23:9,8,12,11 3 155551894 135840102 A G 410 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=239;DEA=54;QA=37;PBP=205;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs422497,g1000:0.2129,GnomAD_AC_genome:6357,GnomAD_AN_genome:30924,GnomAD:0.2056;SGVEP=SLC33A1|-|NM_001190992|3|c.964-64T>C|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 3 155611557 135844075 T G 585 off_target VARTYPE=1;BGN=0.00118013;ARL=265;DEA=35;QA=37;PBP=263;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs6441026,g1000:0.8482,GnomAD_AC_genome:27581,GnomAD_AN_genome:30966,GnomAD:0.8907;SGVEP=GMPS|+|NM_003875|2|c.209+69T>G|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,9,11 3 155652860 135850488 C T 1372 off_target VARTYPE=1;BGN=0.00118013;ARL=212;DEA=43;QA=37;PBP=672;PBM=702;TYPE=SNP;DBXREF=dbSNP:rs75672038,g1000:0.0549,esp5400:0.0810,ExAC:0.0850,GnomAD_AC_exome:20983,GnomAD_AN_exome:245156,GnomAD_AC_genome:2436,GnomAD_AN_genome:30948,GnomAD:0.0848;SGVEP=GMPS|+|NM_003875|14|c.1807+25C>T|.|intronic GT:DP:AD:DP4 1/1:47:0,47:0,0,23,24 3 155654017 135850632 C T 631 off_target VARTYPE=1;BGN=0.000983543;ARL=289;DEA=53;QA=38;PBP=361;PBM=270;TYPE=SNP;DBXREF=dbSNP:rs10804774,g1000:0.5112,GnomAD_AC_genome:19197,GnomAD_AN_genome:30888,GnomAD:0.6215;SGVEP=GMPS|+|NM_003875|15|c.1808-110C>T|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,12,9 3 156009925 135927139 C T 1917 off_target VARTYPE=1;BGN=0.00118013;ARL=222;DER=44;DEA=55;QR=37;QA=37;PBP=963;PBM=967;TYPE=SNP;DBXREF=dbSNP:rs1551066,g1000:0.5246,esp5400:0.4285,ExAC:0.4180,GnomAD_AC_exome:103183,GnomAD_AN_exome:242556,GnomAD_AC_genome:13969,GnomAD_AN_genome:30880,GnomAD:0.4284;SGVEP=KCNAB1|+|NM_001308217|2|c.276-129480C>T|.|intronic GT:DP:AD:DP4 0/1:127:49,78:25,24,39,39 3 156175167 135958180 G A 167 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=257;DER=28;DEA=53;QR=35;QA=37;PBP=99;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2293194,g1000:0.5080,GnomAD_AC_genome:15358,GnomAD_AN_genome:30720,GnomAD:0.4999;SGVEP=KCNAB1|+|NM_001308217|4|c.358-75G>A|.|intronic GT:DP:AD:DP4 0/1:15:8,7:4,4,4,3 3 156175168 135958188 G A 164 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=243;DER=23;DEA=54;QR=34;QA=37;PBP=96;PBM=72;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2293195,g1000:0.5080,GnomAD_AC_genome:15360,GnomAD_AN_genome:30724,GnomAD:0.4999;SGVEP=KCNAB1|+|NM_001308217|4|c.358-74G>A|.|intronic GT:DP:AD:DP4 0/1:16:9,7:5,4,4,3 3 156249214 135970609 T C 262 PASS VARTYPE=1;BGN=0.000983543;ARL=238;DER=89;DEA=101;QR=36;QA=38;PBP=133;PBM=135;TYPE=SNP;DBXREF=dbSNP:rs2280031,g1000:0.2596,esp5400:0.2315,ExAC:0.2340,GnomAD_AC_exome:57819,GnomAD_AN_exome:246214,GnomAD_AC_genome:6809,GnomAD_AN_genome:30944,GnomAD:0.2332;SGVEP=KCNAB1|+|NM_001308217|12|c.1011T>C|p.(Asn337:)|synonymous GT:DP:AD:DP4 0/1:41:29,12:15,14,6,6 3 157820423 136267313 C T 906 off_target VARTYPE=1;BGN=0.00118013;ARL=237;DEA=50;QA=37;PBP=497;PBM=410;TYPE=SNP;DBXREF=dbSNP:rs4462902,g1000:0.9069,esp5400:0.8821,ExAC:0.8900,GnomAD_AC_exome:217350,GnomAD_AN_exome:244170,GnomAD_AC_genome:27606,GnomAD_AN_genome:30844,GnomAD:0.8907;SGVEP=SHOX2|-|NM_001163678|2|c.555+44G>A|.|intronic GT:DP:AD:DP4 1/1:31:0,31:0,0,17,14 3 157840110 136271932 A G 460 off_target VARTYPE=1;BGN=0.00118013;ARL=244;DER=102;DEA=50;QR=38;QA=37;PBP=235;PBM=230;TYPE=SNP;DBXREF=dbSNP:rs148857455,g1000:0.0024,esp5400:0.0051,ExAC:0.0068,GnomAD_AC_exome:1237,GnomAD_AN_exome:174150,GnomAD_AC_genome:257,GnomAD_AN_genome:30802,GnomAD:0.0073;SGVEP=RSRC1|+|NM_001271834|2|c.194+23A>G|.|intronic GT:DP:AD:DP4 0/1:27:9,18:4,5,9,9 3 158178856 136336838 G A 386 off_target VARTYPE=1;BGN=0.00118013;ARL=234;DER=43;DEA=68;QR=34;QA=37;PBP=196;PBM=196;TYPE=SNP;DBXREF=dbSNP:rs73172119,g1000:0.1595,esp5400:0.2140,GnomAD_AC_genome:5666,GnomAD_AN_genome:30840,GnomAD:0.1837;SGVEP=RSRC1|+|NM_001271834|6|c.478+64G>A|.|intronic GT:DP:AD:DP4 0/1:30:14,16:7,7,8,8 3 158254806 136352164 A G 308 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=238;DER=35;DEA=44;QR=36;QA=37;PBP=156;PBM=156;TYPE=SNP;DBXREF=dbSNP:rs73154326,g1000:0.2318,GnomAD_AC_genome:7777,GnomAD_AN_genome:30788,GnomAD:0.2526;SGVEP=RSRC1|+|NM_001271834|7|c.479-75A>G|.|intronic GT:DP:AD:DP4 0/1:18:6,12:3,3,6,6 3 158362441 136371826 T C 797 PASS VARTYPE=1;BGN=0.00118013;ARL=221;DER=99;DEA=112;QR=37;QA=37;PBP=427;PBM=379;TYPE=SNP;DBXREF=dbSNP:rs1864507,g1000:0.5831,esp5400:0.6030,ExAC:0.4940,clinvar:rs1864507,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:95771,GnomAD_AN_exome:175762,GnomAD_AC_genome:17749,GnomAD_AN_genome:30884,GnomAD:0.5493;SGVEP=GFM1|+|NM_001308164|1|c.18T>C|p.(Ala6:)|synonymous GT:DP:AD:DP4 0/1:91:55,36:28,27,19,17 3 158366900 136373204 G A 633 PASS VARTYPE=1;BGN=0.000983543;ARL=207;DER=84;DEA=91;QR=36;QA=38;PBP=323;PBM=318;TYPE=SNP;DBXREF=dbSNP:rs2303909,g1000:0.5833,esp5400:0.6011,ExAC:0.5470,PhyloP:0.1880,SIFT:0.6040,PolyPhen2:0.0740,PolyPhen2_HumDiv:0.0060,LRT:1.0000,MutationTaster:1.0000,GERP:3.6900,clinvar:rs2303909,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:133492,GnomAD_AN_exome:246142,GnomAD_AC_genome:17802,GnomAD_AN_genome:30930,GnomAD:0.5460;SGVEP=GFM1|+|NM_001308164|5|c.643G>A|p.(Val215Ile)|missense GT:DP:AD:DP4 0/1:52:26,26:12,14,13,13 3 158378847 136375765 A G 320 off_target VARTYPE=1;BGN=0.00141601;ARL=232;DER=39;DEA=37;QR=35;QA=36;PBP=136;PBM=190;TYPE=SNP;DBXREF=dbSNP:rs2291595,g1000:0.1675,GnomAD_AC_genome:5210,GnomAD_AN_genome:30948,GnomAD:0.1683;SGVEP=GFM1|+|NM_001308164|11|c.1380+83A>G|.|intronic GT:DP:AD:DP4 0/1:29:15,14:8,7,6,8 3 159995356 136735012 A G 488 off_target VARTYPE=1;BGN=0.00118013;ARL=201;DER=68;DEA=80;QR=38;QA=37;PBP=261;PBM=235;TYPE=SNP;DBXREF=dbSNP:rs3737214,g1000:0.1134,esp5400:0.1772,ExAC:0.1730,clinvar:rs3737214,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:42628,GnomAD_AN_exome:244972,GnomAD_AC_genome:5887,GnomAD_AN_genome:30936,GnomAD:0.1758;SGVEP=IFT80|-|NM_001190241|18|c.1515+13T>C|.|intronic GT:DP:AD:DP4 0/1:45:24,21:12,12,11,10 3 159997061 136735309 T A 550 PASS VARTYPE=1;BGN=0.00118013;ARL=227;DER=108;DEA=118;QR=37;QA=37;PBP=254;PBM=304;TYPE=SNP;DBXREF=dbSNP:rs6778728,g1000:0.2614,esp5400:0.3274,ExAC:0.2310,PhyloP:-0.0150,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9990,MutationTaster:0.0000,GERP:2.5400,clinvar:rs6778728,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:55092,GnomAD_AN_exome:245734,GnomAD_AC_genome:9880,GnomAD_AN_genome:30918,GnomAD:0.2349;SGVEP=IFT80|-|NM_001190241|17|c.1345A>T|p.(Thr449Ser)|missense GT:DP:AD:DP4 0/1:81:55,26:28,27,12,14 3 160021681 136737833 G A 643 off_target VARTYPE=1;BGN=0.00118013;ARL=212;DER=74;DEA=42;QR=36;QA=37;PBP=308;PBM=341;TYPE=SNP;DBXREF=dbSNP:rs4680576,g1000:0.4413,esp5400:0.5355,ExAC:0.4880,GnomAD_AC_exome:118922,GnomAD_AN_exome:245260,GnomAD_AC_genome:17001,GnomAD_AN_genome:30892,GnomAD:0.4922;SGVEP=IFT80|-|NM_001190241|12|c.740+22C>T|.|intronic GT:DP:AD:DP4 0/1:36:11,25:6,5,12,13 3 160804167 136885976 C T 776 PASS VARTYPE=1;BGN=0.00141601;ARL=233;DER=105;DEA=105;QR=37;QA=36;PBP=416;PBM=368;TYPE=SNP;DBXREF=dbSNP:rs2231257,g1000:0.0519,esp5400:0.0255,ExAC:0.0460,PhyloP:2.7010,SIFT:0.8170,PolyPhen2:0.9110,PolyPhen2_HumDiv:0.9980,LRT:0.0320,MutationTaster:1.0000,GERP:5.7300,GnomAD_AC_exome:11089,GnomAD_AN_exome:246054,GnomAD_AC_genome:753,GnomAD_AN_genome:30946,GnomAD:0.0428;SGVEP=B3GALNT1|-|NM_001038628|8|c.376G>A|p.(Asp126Asn)|missense GT:DP:AD:DP4 0/1:67:33,34:17,16,18,16 3 164699998 137641122 C T 548 off_target VARTYPE=1;BGN=0.00118013;ARL=209;DER=34;DEA=53;QR=37;QA=37;PBP=277;PBM=277;TYPE=SNP;DBXREF=dbSNP:rs41273561,g1000:0.1925,esp5400:0.2210,ExAC:0.1400,GnomAD_AC_exome:31194,GnomAD_AN_exome:238984,GnomAD_AC_genome:6059,GnomAD_AN_genome:30828,GnomAD:0.1381;SGVEP=SI|-|NM_001041|47|c.5415+33G>A|.|intronic GT:DP:AD:DP4 0/1:36:14,22:7,7,11,11 3 164700734 137641627 C T 126 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=252;DER=21;DEA=97;QR=37;QA=38;PBP=50;PBM=80;SP=0;TYPE=SNP;DBXREF=dbSNP:rs3762796,g1000:0.1072,esp5400:0.1172,GnomAD_AC_genome:3657,GnomAD_AN_genome:30920,GnomAD:0.1183;SGVEP=SI|-|NM_001041|46|c.5247+56G>A|.|intronic GT:DP:AD:DP4 0/1:10:5,5:3,2,2,3 3 164714296 137646844 C T 352 off_target VARTYPE=1;BGN=0.00141601;ARL=214;DER=45;DEA=55;QR=38;QA=36;PBP=177;PBM=181;TYPE=SNP;DBXREF=dbSNP:rs78437999,g1000:0.1136,esp5400:0.1303,ExAC:0.1180,GnomAD_AC_exome:27583,GnomAD_AN_exome:244316,GnomAD_AC_genome:3750,GnomAD_AN_genome:30844,GnomAD:0.1139;SGVEP=SI|-|NM_001041|40|c.4692+27G>A|.|intronic GT:DP:AD:DP4 0/1:38:22,16:12,10,8,8 3 164714532 137647145 C T 342 low_coverage VARTYPE=1;BGN=0.00141601;ARL=260;DEA=55;QA=36;PBP=171;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs4855271,g1000:0.9097,esp5400:0.9234,ExAC:0.9060,PhyloP:-1.3380,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:0.0000,GERP:-6.9200,clinvar:rs4855271,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:190406,GnomAD_AN_exome:209508,GnomAD_AC_genome:28663,GnomAD_AN_genome:30822,GnomAD:0.9115;SGVEP=SI|-|NM_001041|39|c.4569G>A|p.(Met1523Ile)|missense GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 3 164724567 137650025 A G 681 off_target VARTYPE=1;BGN=0.000983543;ARL=236;DER=54;DEA=48;QR=38;QA=38;PBP=375;PBM=314;TYPE=SNP;DBXREF=dbSNP:rs7618643,g1000:0.1116,esp5400:0.1260,ExAC:0.1170,GnomAD_AC_exome:27468,GnomAD_AN_exome:244546,GnomAD_AC_genome:3677,GnomAD_AN_genome:30940,GnomAD:0.1131;SGVEP=SI|-|NM_001041|37|c.4406+37T>C|.|intronic GT:DP:AD:DP4 0/1:39:12,26:6,6,14,12 3 164730804 137652019 T C 556 PASS VARTYPE=1;BGN=0.00118013;ARL=214;DER=92;DEA=83;QR=38;QA=37;PBP=293;PBM=270;TYPE=SNP;DBXREF=dbSNP:rs74648160,g1000:0.0986,esp5400:0.1073,ExAC:0.1130,clinvar:rs74648160,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:26803,GnomAD_AN_exome:245678,GnomAD_AC_genome:3115,GnomAD_AN_genome:30954,GnomAD:0.1082;SGVEP=SI|-|NM_001041|34|c.4026A>G|p.(Thr1342:)|synonymous GT:DP:AD:DP4 0/1:42:19,23:10,9,12,11 3 164733721 137652707 G A 685 off_target VARTYPE=1;BGN=0.000983543;ARL=242;DER=64;DEA=62;QR=37;QA=38;PBP=345;PBM=348;TYPE=SNP;DBXREF=dbSNP:rs2290738,g1000:0.6935,esp5400:0.7128,ExAC:0.7570,GnomAD_AC_exome:187535,GnomAD_AN_exome:245734,GnomAD_AC_genome:22780,GnomAD_AN_genome:30864,GnomAD:0.7604;SGVEP=SI|-|NM_001041|32|c.3888+19C>T|.|intronic GT:DP:AD:DP4 0/1:55:27,28:14,13,14,14 3 164761113 137661552 A G 164 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=284;DER=22;DEA=25;QR=37;QA=36;PBP=72;PBM=95;SP=0;TYPE=SNP;DBXREF=dbSNP:rs13073000,g1000:0.6084,GnomAD_AC_genome:17551,GnomAD_AN_genome:30484,GnomAD:0.5757;SGVEP=SI|-|NM_001041|17|c.1888-150T>C|.|intronic GT:DP:AD:DP4 0/1:14:7,7:3,4,3,4 3 164761122 137661557 C G 190 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=284;DER=13;DEA=15;QR=37;QA=36;PBP=99;PBM=95;SP=0;TYPE=SNP;DBXREF=dbSNP:rs13073170,g1000:0.6038,GnomAD_AC_genome:17445,GnomAD_AN_genome:30508,GnomAD:0.5718;SGVEP=SI|-|NM_001041|17|c.1888-159G>C|.|intronic GT:DP:AD:DP4 0/1:15:7,8:3,4,4,4 3 164761123 137661570 T C 170 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=284;DER=12;DEA=15;QR=37;QA=37;PBP=75;PBM=99;SP=0;TYPE=SNP;DBXREF=dbSNP:rs13095976,g1000:0.6094,GnomAD_AC_genome:17549,GnomAD_AN_genome:30516,GnomAD:0.5751;SGVEP=SI|-|NM_001041|17|c.1888-160A>G|.|intronic GT:DP:AD:DP4 0/1:14:7,7:3,4,3,4 3 164764719 137668414 C A 359 PASS VARTYPE=1;BGN=0.00118013;ARL=195;DER=88;DEA=73;QR=37;QA=37;PBP=171;PBM=195;TYPE=SNP;DBXREF=dbSNP:rs9838509,g1000:0.6086,esp5400:0.5605,ExAC:0.6100,clinvar:rs9838509,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:150898,GnomAD_AN_exome:245018,GnomAD_AC_genome:18002,GnomAD_AN_genome:30866,GnomAD:0.6122;SGVEP=SI|-|NM_001041|16|c.1797G>T|p.(Ala599:)|synonymous GT:DP:AD:DP4 0/1:55:38,17:19,19,8,9 3 164766835 137669265 T C 399 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=264;DEA=50;QA=36;PBP=199;PBM=199;TYPE=SNP;DBXREF=dbSNP:rs9841237,g1000:0.6338,GnomAD_AC_genome:18216,GnomAD_AN_genome:30414,GnomAD:0.5989;SGVEP=SI|-|NM_001041|15|c.1715+80A>G|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 3 164772957 137670882 C T 900 off_target VARTYPE=1;BGN=0.000983543;ARL=205;DEA=36;QA=38;PBP=451;PBM=451;TYPE=SNP;DBXREF=dbSNP:rs9290256,g1000:0.6190,esp5400:0.5637,ExAC:0.6130,GnomAD_AC_exome:151049,GnomAD_AN_exome:243802,GnomAD_AC_genome:18048,GnomAD_AN_genome:30816,GnomAD:0.6158;SGVEP=SI|-|NM_001041|13|c.1512+25G>A|.|intronic GT:DP:AD:DP4 1/1:30:0,30:0,0,15,15 3 164773057 137670949 G A 1518 PASS VARTYPE=1;BGN=0.00118013;ARL=198;DEA=72;QA=37;PBP=731;PBM=789;TYPE=SNP;DBXREF=dbSNP:rs9290257,g1000:0.6190,esp5400:0.5636,ExAC:0.6140,clinvar:rs9290257,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:152054,GnomAD_AN_exome:245344,GnomAD_AC_genome:18036,GnomAD_AN_genome:30812,GnomAD:0.6159;SGVEP=SI|-|NM_001041|13|c.1437C>T|p.(Asn479:)|synonymous GT:DP:AD:DP4 1/1:52:0,52:0,0,25,27 3 164776913 137671993 C CAT 1520 off_target VARTYPE=1;BGN=0.000983543;ARL=239;DER=3;DEA=107;QR=36;QA=74;PBP=750;PBM=779;TYPE=INDEL;DBXREF=dbSNP:rs60170840,g1000:0.6188,ExAC:0.6100,GnomAD_AC_exome:150127,GnomAD_AN_exome:242658,GnomAD_AC_genome:17921,GnomAD_AN_genome:30722,GnomAD:0.6147;SGVEP=SI|-|NM_001041|11|c.1278+42_1278+43insAT|.|intronic GT:DP:AD:DP4 1/1:67:6,55:3,3,27,28 3 164777677 137672334 T G 1199 off_target VARTYPE=1;BGN=0.000983543;ARL=214;DEA=64;QA=38;PBP=571;PBM=631;TYPE=SNP;DBXREF=dbSNP:rs9290259,g1000:0.6172,esp5400:0.5621,ExAC:0.6130,clinvar:rs9290259,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:152155,GnomAD_AN_exome:245574,GnomAD_AC_genome:17993,GnomAD_AN_genome:30800,GnomAD:0.6156;SGVEP=SI|-|NM_001041|10|c.1146+13A>C|.|intronic GT:DP:AD:DP4 1/1:40:0,40:0,0,19,21 3 164781368 137673584 G A 361 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=245;DEA=56;QA=38;PBP=150;PBM=210;TYPE=SNP;DBXREF=dbSNP:rs11718901,g1000:0.6190,esp5400:0.5667,ExAC:0.6070,GnomAD_AC_exome:137425,GnomAD_AN_exome:222730,GnomAD_AC_genome:17776,GnomAD_AN_genome:30398,GnomAD:0.6131;SGVEP=SI|-|NM_001041|8|c.808-39C>T|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,5,7 3 164783165 137674174 T C 1110 PASS VARTYPE=1;BGN=0.00118013;ARL=217;DEA=67;QA=37;PBP=556;PBM=556;TYPE=SNP;DBXREF=dbSNP:rs9283633,g1000:0.6160,esp5400:0.5596,ExAC:0.6130,PhyloP:0.1640,SIFT:0.8500,PolyPhen2:0.0080,PolyPhen2_HumDiv:0.0040,LRT:1.0000,MutationTaster:0.0940,GERP:1.0500,clinvar:rs9283633,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:151602,GnomAD_AN_exome:244792,GnomAD_AC_genome:15864,GnomAD_AN_genome:28074,GnomAD:0.6137;SGVEP=SI|-|NM_001041|7|c.691A>G|p.(Thr231Ala)|missense GT:DP:AD:DP4 1/1:38:0,38:0,0,19,19 3 164785338 137675084 G A 293 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=218;DEA=24;QA=37;PBP=146;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs9865476,g1000:0.6360,GnomAD_AC_genome:18541,GnomAD_AN_genome:30850,GnomAD:0.6010;SGVEP=SI|-|NM_001041|6|c.484-59C>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 3 164786629 137675668 TAAAAAAAA TAAAAAAA 251 off_target VARTYPE=1;BGN=0.0893239;ARL=217;DER=5;DEA=56;QR=32;QA=37;HL=8;PBP=132;PBM=126;TYPE=INDEL;DBXREF=dbSNP:rs11313475,g1000:0.6362,ExAC:0.6180,clinvar:rs11313475,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:153143,GnomAD_AN_exome:245346,GnomAD_AC_genome:18525,GnomAD_AN_genome:30776,GnomAD:0.6217;SGVEP=SI|-|NM_001041|5|c.374-11del|.|intronic GT:DP:AD:DP4 1/1:41:9,32:4,5,16,16 3 167167100 138111216 C T 244 PASS VARTYPE=1;BGN=0.00203864;ARL=220;DER=67;DEA=88;QR=38;QA=34;PBP=135;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs6803996,g1000:0.1735,esp5400:0.2078,ExAC:0.2310,GnomAD_AC_exome:55882,GnomAD_AN_exome:245380,GnomAD_AC_genome:6455,GnomAD_AN_genome:30902,GnomAD:0.2256;SGVEP=SERPINI2|-|NM_001012303|8|c.1081+4G>A|.|splice_donor_+4 GT:DP:AD:DP4 0/1:20:9,11:5,4,6,5 3 167167186 138111269 T A 485 low_coverage VARTYPE=1;BGN=0.00118013;ARL=222;DER=54;DEA=68;QR=37;QA=37;PBP=225;PBM=263;TYPE=SNP;DBXREF=dbSNP:rs6770577,g1000:0.3708,esp5400:0.3617,ExAC:0.3880,GnomAD_AC_exome:94407,GnomAD_AN_exome:242568,GnomAD_AC_genome:11711,GnomAD_AN_genome:30822,GnomAD:0.3882;SGVEP=SERPINI2|-|NM_001012303|8|c.999A>T|p.(Ser333:)|synonymous GT:DP:AD:DP4 1/1:18:1,17:1,0,8,9 3 167184878 138114530 T C 1370 PASS VARTYPE=1;BGN=0.00118013;ARL=253;DER=135;DEA=86;QR=38;QA=37;PBP=688;PBM=688;TYPE=SNP;DBXREF=dbSNP:rs9841174,g1000:0.4125,esp5400:0.3738,ExAC:0.3960,PhyloP:0.4520,SIFT:0.9030,PolyPhen2:0.4380,PolyPhen2_HumDiv:0.7220,LRT:0.9810,MutationTaster:0.0040,GERP:3.3400,GnomAD_AC_exome:97225,GnomAD_AN_exome:245524,GnomAD_AC_genome:12186,GnomAD_AN_genome:30858,GnomAD:0.3959;SGVEP=SERPINI2|-|NM_001012303|4|c.473A>G|p.(Glu158Gly)|missense GT:DP:AD:DP4 1/1:50:2,48:1,1,24,24 3 167189607 138115643 A C 823 PASS VARTYPE=1;BGN=0.00118013;ARL=219;DER=73;DEA=53;QR=37;QA=37;PBP=419;PBM=413;TYPE=SNP;DBXREF=dbSNP:rs17246389,g1000:0.1677,esp5400:0.1984,ExAC:0.2260,PhyloP:-0.4840,SIFT:0.9910,PolyPhen2:0.1400,PolyPhen2_HumDiv:0.6080,LRT:0.8540,MutationTaster:0.0000,GERP:-1.4100,GnomAD_AC_exome:54843,GnomAD_AN_exome:245390,GnomAD_AC_genome:6230,GnomAD_AN_genome:30920,GnomAD:0.2210;SGVEP=SERPINI2|-|NM_001012303|3|c.46T>G|p.(Leu16Val)|missense GT:DP:AD:DP4 0/1:80:44,36:21,23,18,18 3 167191652 138115955 C T 351 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=231;DEA=58;QA=37;PBP=176;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs4129073,g1000:0.3784,GnomAD_AC_genome:11279,GnomAD_AN_genome:30762,GnomAD:0.3667;SGVEP=SERPINI2|-|NM_001012303|2|c.-71-37G>A|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 3 168819788 138461393 A G 848 off_target VARTYPE=1;BGN=0.00118013;ARL=232;DEA=52;QA=37;PBP=410;PBM=439;TYPE=SNP;DBXREF=dbSNP:rs9290358,g1000:0.9433,GnomAD_AC_genome:29424,GnomAD_AN_genome:30956,GnomAD:0.9505;SGVEP=MECOM|-|NM_001105077|11|c.2402+60T>C|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,14,15 3 168840571 138474762 A T 439 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=234;DEA=46;QA=37;PBP=205;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs3851380,g1000:0.9577,GnomAD_AC_genome:29720,GnomAD_AN_genome:30950,GnomAD:0.9603;SGVEP=MECOM|-|NM_001105077|6|c.459-56T>A|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,7,8 3 168840607 138474770 C T 293 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=246;DEA=23;QA=37;PBP=146;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs3851381,g1000:0.9876,GnomAD_AC_genome:30412,GnomAD_AN_genome:30952,GnomAD:0.9826;SGVEP=MECOM|-|NM_001105077|6|c.459-92G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 3 169098861 138523641 C T 124 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=277;DER=35;DEA=63;QR=36;QA=38;PBP=77;PBM=50;SP=0;TYPE=SNP;DBXREF=dbSNP:rs988398,g1000:0.3950,GnomAD_AC_genome:13451,GnomAD_AN_genome:30884,GnomAD:0.4355;SGVEP=MECOM|-|NM_001205194|2|c.-189-237241G>A|.|intronic GT:DP:AD:DP4 0/1:11:6,5:3,3,3,2 3 172166033 139051655 G A 2033 PASS VARTYPE=1;BGN=0.00141601;ARL=217;DER=101;DEA=108;QR=37;QA=36;PBP=1061;PBM=988;TYPE=SNP;DBXREF=dbSNP:rs495225,g1000:0.5401,esp5400:0.6362,ExAC:0.6540,clinvar:rs495225,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:161198,GnomAD_AN_exome:243326,GnomAD_AC_genome:19509,GnomAD_AN_genome:30876,GnomAD:0.6590;SGVEP=GHSR|-|NM_004122|1|c.171C>T|p.(Gly57:)|synonymous GT:DP:AD:DP4 0/1:186:95,91:48,47,47,44 3 172166215 139051763 A G 894 off_target VARTYPE=1;BGN=0.00118013;ARL=211;DER=73;DEA=58;QR=36;QA=37;PBP=402;PBM=501;TYPE=SNP;DBXREF=dbSNP:rs199691534,ExAC:0.0000;SGVEP=GHSR|-|NM_004122|1|c.-12T>C|.|5'UTR GT:DP:AD:DP4 0/1:97:57,40:28,29,18,22 3 172634025 139135872 T TTG 290 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=234;DER=18;DEA=39;QR=35;QA=68;PBP=157;PBM=137;TYPE=INDEL;DBXREF=dbSNP:rs141570329,g1000:0.4016,GnomAD_AC_genome:13505,GnomAD_AN_genome:29382,GnomAD:0.4596;SGVEP=SPATA16|-|NM_031955|9|c.1503+81_1503+82insCA|.|intronic GT:DP:AD:DP4 0/1:17:4,11:2,2,6,5 3 173992971 139295904 A G 285 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=295;DEA=47;QA=36;PBP=142;PBM=142;TYPE=SNP;DBXREF=dbSNP:rs691120,g1000:0.5829,GnomAD_AC_genome:16407,GnomAD_AN_genome:30842,GnomAD:0.5320;SGVEP=NLGN1|+|NM_014932|5|c.647-134A>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 3 173997153 139296374 G A 3170 PASS VARTYPE=1;BGN=0.00118013;ARL=241;DEA=105;QA=37;PBP=1605;PBM=1576;TYPE=SNP;DBXREF=dbSNP:rs7646919,g1000:0.1883,esp5400:0.2124,ExAC:0.2000,GnomAD_AC_exome:47812,GnomAD_AN_exome:245470,GnomAD_AC_genome:6559,GnomAD_AN_genome:30862,GnomAD:0.1968;SGVEP=NLGN1|+|NM_014932|6|c.1362G>A|p.(Lys454:)|synonymous GT:DP:AD:DP4 1/1:109:0,109:0,0,55,54 3 176765253 139709128 G A 556 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=240;DEA=95;QA=37;PBP=263;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs1201300,g1000:1.0000,esp5400:0.9999,ExAC:1.0000,GnomAD_AC_exome:243885,GnomAD_AN_exome:243890,GnomAD_AC_genome:30960,GnomAD_AN_genome:30960,GnomAD:1.0000;SGVEP=TBL1XR1|-|NM_001321193|8|c.766+21C>T|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,9,10 3 176765269 139709137 T C 585 PASS VARTYPE=1;BGN=0.00118013;ARL=232;DEA=87;QA=37;PBP=293;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs3749234,g1000:0.1745,esp5400:0.1569,ExAC:0.2060,GnomAD_AC_exome:51468,GnomAD_AN_exome:244706,GnomAD_AC_genome:5891,GnomAD_AN_genome:30928,GnomAD:0.2081;SGVEP=TBL1XR1|-|NM_001321193|8|c.766+5A>G|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 3 176769608 139710599 G A 285 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=272;DEA=34;QA=36;PBP=142;PBM=142;TYPE=SNP;DBXREF=dbSNP:rs1881979,g1000:0.3436,GnomAD_AC_genome:10480,GnomAD_AN_genome:30800,GnomAD:0.3403;SGVEP=TBL1XR1|-|NM_001321193|5|c.205-94C>T|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 3 178921639 140060982 C A 322 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=237;DEA=33;QA=37;PBP=146;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs2699895,g1000:0.5180,GnomAD_AC_genome:17214,GnomAD_AN_genome:30888,GnomAD:0.5573;SGVEP=PIK3CA|+|NM_006218|5|c.1059+62C>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 3 178922274 140061150 C A 468 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=239;DEA=79;QA=37;PBP=234;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs2699896,g1000:0.5847,esp5400:0.6671,ExAC:0.5610,clinvar:rs2699896,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:135497,GnomAD_AN_exome:244092,GnomAD_AC_genome:19129,GnomAD_AN_genome:30906,GnomAD:0.5623;SGVEP=PIK3CA|+|NM_006218|6|c.1060-17C>A|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 3 178942431 140065312 C G 789 off_target VARTYPE=1;BGN=0.00118013;ARL=267;DEA=70;QA=37;PBP=410;PBM=380;TYPE=SNP;DBXREF=dbSNP:rs2699889,g1000:0.6294,GnomAD_AC_genome:20026,GnomAD_AN_genome:30812,GnomAD:0.6499;SGVEP=PIK3CA|+|NM_006218|16|c.2295-57C>G|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,14,13 3 182735182 140578106 C A 960 off_target VARTYPE=1;BGN=0.000983543;ARL=230;DEA=48;QA=38;PBP=481;PBM=481;TYPE=SNP;DBXREF=dbSNP:rs6786878,g1000:0.9535,esp5400:0.9335,GnomAD_AC_genome:29036,GnomAD_AN_genome:30958,GnomAD:0.9379;SGVEP=MCCC1|-|NM_001293273|16|c.1627-57G>T|.|intronic GT:DP:AD:DP4 1/1:32:0,32:0,0,16,16 3 182735211 140578115 T G 240 off_target VARTYPE=1;BGN=0.00118013;ARL=234;DER=45;DEA=32;QR=37;QA=37;PBP=122;PBM=122;TYPE=SNP;DBXREF=dbSNP:rs2292056,g1000:0.3031,GnomAD_AC_genome:6679,GnomAD_AN_genome:30960,GnomAD:0.2157;SGVEP=MCCC1|-|NM_001293273|16|c.1627-86A>C|.|intronic GT:DP:AD:DP4 0/1:20:10,10:5,5,5,5 3 182755209 77873 T G 885 PASS VARTYPE=1;BGN=0.00118013;ARL=221;DER=79;DEA=78;QR=38;QA=37;PBP=434;PBM=460;TYPE=SNP;DBXREF=dbSNP:rs2270968,g1000:0.4649,esp5400:0.5840,ExAC:0.6230,PhyloP:0.4740,SIFT:0.7240,PolyPhen2:0.0040,PolyPhen2_HumDiv:0.0010,LRT:1.0000,MutationTaster:0.1130,GERP:3.5100,clinvar:rs2270968,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:154769,GnomAD_AN_exome:245806,GnomAD_AC_genome:17898,GnomAD_AN_genome:30906,GnomAD:0.6240;SGVEP=MCCC1|-|NM_001293273|11|c.1040A>C|p.(His347Pro)|missense GT:DP:AD:DP4 0/1:89:50,39:25,25,19,20 3 182790249 77893 G A 760 PASS VARTYPE=1;BGN=0.00118013;ARL=228;DEA=70;QA=37;PBP=380;PBM=380;TYPE=SNP;DBXREF=dbSNP:rs7622479,g1000:0.9155,esp5400:0.8856,ExAC:0.9290,clinvar:rs7622479,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:229455,GnomAD_AN_exome:246098,GnomAD_AC_genome:27788,GnomAD_AN_genome:30962,GnomAD:0.9285;SGVEP=MCCC1|-|NM_020166|5|c.396C>T|p.(Leu132:)|synonymous GT:DP:AD:DP4 1/1:26:0,26:0,0,13,13 3 182810144 140588106 T G 450 off_target VARTYPE=1;BGN=0.00118013;ARL=243;DER=50;DEA=59;QR=36;QA=37;PBP=214;PBM=243;TYPE=SNP;DBXREF=dbSNP:rs3732604,GnomAD_AC_genome:15776,GnomAD_AN_genome:30924,GnomAD:0.5102;SGVEP=MCCC1|-|NM_001293273|2|c.44+2203A>C|.|intronic GT:DP:AD:DP4 0/1:38:19,19:10,9,9,10 3 182817328 140589939 C G 165 low_coverage VARTYPE=1;BGN=0.00244612;ARL=252;DER=39;DEA=87;QR=38;QA=33;PBP=86;PBM=83;SP=0;TYPE=SNP;DBXREF=dbSNP:rs937652,g1000:0.5449,clinvar:rs937652,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:19298,GnomAD_AN_genome:30924,GnomAD:0.6240;SGVEP=MCCC1|-|NM_001293273|1|c.-192G>C|.|5'UTR GT:DP:AD:DP4 0/1:17:9,8:4,5,4,4 3 183560195 140745747 A G 955 PASS VARTYPE=1;BGN=0.00118013;ARL=217;DER=94;DEA=71;QR=37;QA=37;PBP=445;PBM=520;TYPE=SNP;DBXREF=dbSNP:rs13091,g1000:0.4569,esp5400:0.4876,ExAC:0.4680,GnomAD_AC_exome:115034,GnomAD_AN_exome:245998,GnomAD_AC_genome:14146,GnomAD_AN_genome:30916,GnomAD:0.4665;SGVEP=PARL|-|NM_001324436|6|c.648T>C|p.(His216:)|synonymous GT:DP:AD:DP4 0/1:84:43,41:21,22,19,22 3 183560292 140745819 A T 358 off_target VARTYPE=1;BGN=0.00169904;ARL=249;DER=34;DEA=29;QR=37;QA=35;PBP=159;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs7652031,g1000:0.4571,GnomAD_AC_genome:14105,GnomAD_AN_genome:30868,GnomAD:0.4569;SGVEP=PARL|-|NM_001037639|5|c.607+1727T>A|.|intronic GT:DP:AD:DP4 0/1:31:15,16:7,8,7,9 3 183773250 140774913 C T 209 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=248;DER=34;DEA=35;QR=36;QA=36;PBP=95;PBM=118;SP=0;TYPE=SNP;DBXREF=dbSNP:rs56333453,g1000:0.0815,GnomAD_AC_genome:3645,GnomAD_AN_genome:30934,GnomAD:0.1178;SGVEP=HTR3C|+|NM_130770|3|c.279+106C>T|.|intronic GT:DP:AD:DP4 0/1:18:9,9:4,5,4,5 3 183774872 140775832 GAA GAAA 387 off_target VARTYPE=1;BGN=0.0135462;ARL=242;DER=34;DEA=65;QR=36;QA=37;HL=2;PBP=186;PBM=207;TYPE=INDEL;DBXREF=dbSNP:rs397790360,g1000:0.7650,ExAC:0.6700,GnomAD_AC_exome:154295,GnomAD_AN_exome:230138,GnomAD_AC_genome:22118,GnomAD_AN_genome:30872,GnomAD:0.6759;SGVEP=HTR3C|+|NM_130770|5|c.559+42dupA|.|intronic GT:DP:AD:DP4 0/1:44:17,27:9,8,13,14 3 183776098 140776018 T C 170 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=262;DER=33;DEA=27;QR=38;QA=37;PBP=99;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7628673,g1000:0.7632,GnomAD_AC_genome:22168,GnomAD_AN_genome:30924,GnomAD:0.7169;SGVEP=HTR3C|+|NM_130770|6|c.560-117T>C|.|intronic GT:DP:AD:DP4 0/1:14:7,7:4,3,4,3 3 183777210 140776215 C T 767 off_target VARTYPE=1;BGN=0.00118013;ARL=219;DER=71;DEA=51;QR=37;QA=37;PBP=372;PBM=404;TYPE=SNP;DBXREF=dbSNP:rs56244916,g1000:0.0593,esp5400:0.0812,ExAC:0.0840,GnomAD_AC_exome:20806,GnomAD_AN_exome:245900,GnomAD_AC_genome:2673,GnomAD_AN_genome:30946,GnomAD:0.0848;SGVEP=HTR3C|+|NM_130770|7|c.721-14C>T|.|intronic GT:DP:AD:DP4 0/1:69:36,33:19,17,16,17 3 183861064 140787112 A G 213 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=268;DER=84;DEA=25;QR=37;QA=38;PBP=108;PBM=108;TYPE=SNP;DBXREF=dbSNP:rs843359,g1000:0.4892,GnomAD_AC_genome:14453,GnomAD_AN_genome:30862,GnomAD:0.4683;SGVEP=EIF2B5|+|NM_003907|12|c.1745+134A>G|.|intronic GT:DP:AD:DP4 0/1:12:4,8:2,2,4,4 3 183861243 77922 A G 610 PASS VARTYPE=1;BGN=0.00118013;ARL=215;DER=58;DEA=57;QR=37;QA=37;PBP=346;PBM=272;TYPE=SNP;DBXREF=dbSNP:rs843358,g1000:0.3900,esp5400:0.3285,ExAC:0.3500,PhyloP:2.1830,SIFT:0.7330,PolyPhen2:0.1630,PolyPhen2_HumDiv:0.5910,LRT:1.0000,MutationTaster:1.0000,GERP:5.7200,clinvar:rs843358,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:86355,GnomAD_AN_exome:246198,GnomAD_AC_genome:10289,GnomAD_AN_genome:30872,GnomAD:0.3488;SGVEP=EIF2B5|+|NM_003907|13|c.1759A>G|p.(Ile587Val)|missense GT:DP:AD:DP4 0/1:64:37,27:19,18,15,12 3 183975365 140805010 C T 10000 PASS VARTYPE=1;BGN=0.00141601;ARL=228;DEA=100;QA=36;PBP=2100;PBM=2156;TYPE=SNP;DBXREF=dbSNP:rs7633387,g1000:0.9928,esp5400:0.9781,ExAC:0.9810,PhyloP:1.0540,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,MutationTaster:1.0000,GERP:5.8800,GnomAD_AC_exome:241572,GnomAD_AN_exome:246216,GnomAD_AC_genome:30365,GnomAD_AN_genome:30962,GnomAD:0.9811;SGVEP=ECE2|+|NM_014693|2|c.301C>T|p.(His101Tyr)|missense GT:DP:AD:DP4 1/1:150:0,150:0,0,74,76 3 183994447 140807330 C T 1022 PASS VARTYPE=1;BGN=0.00118013;ARL=220;DER=60;DEA=60;QR=36;QA=37;PBP=471;PBM=562;TYPE=SNP;DBXREF=dbSNP:rs13063766,g1000:0.0212,esp5400:0.0206,ExAC:0.0220,PhyloP:0.3440,SIFT:0.9640,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0010,LRT:0.0390,MutationTaster:1.0000,GERP:1.3600,GnomAD_AC_exome:4493,GnomAD_AN_exome:170412,GnomAD_AC_genome:629,GnomAD_AN_genome:30906,GnomAD:0.0254;SGVEP=ECE2|+|NM_001100120|2|c.218C>T|p.(Thr73Ile)|missense GT:DP:AD:DP4 0/1:140:92,48:44,48,22,26 3 183994536 140807371 A G 694 off_target VARTYPE=1;BGN=0.00118013;ARL=257;DER=90;DEA=115;QR=37;QA=37;PBP=270;PBM=432;TYPE=SNP;DBXREF=dbSNP:rs843371,g1000:0.7782,esp5400:0.8248,ExAC:0.7540,GnomAD_AC_exome:147125,GnomAD_AN_exome:191498,GnomAD_AC_genome:24448,GnomAD_AN_genome:30872,GnomAD:0.7716;SGVEP=ECE2|+|NM_001037324|2|c.40-144A>G|.|intronic GT:DP:AD:DP4 0/1:46:18,28:9,9,11,17 3 183995341 140807668 C T 162 off_target VARTYPE=1;BGN=0.000983543;ARL=241;DER=22;DEA=23;QR=34;QA=38;PBP=69;PBM=97;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1001817,g1000:0.4832,GnomAD_AC_genome:15757,GnomAD_AN_genome:30890,GnomAD:0.5101;SGVEP=ECE2|+|NM_001037324|3|c.391+87C>T|.|intronic GT:DP:AD:DP4 0/1:20:13,7:7,6,3,4 3 183995854 140807772 G A 550 off_target VARTYPE=1;BGN=0.000983543;ARL=233;DER=77;DEA=87;QR=37;QA=38;PBP=266;PBM=292;TYPE=SNP;DBXREF=dbSNP:rs2272471,g1000:0.4828,esp5400:0.5374,ExAC:0.5050,GnomAD_AC_exome:125953,GnomAD_AN_exome:245314,GnomAD_AC_genome:15700,GnomAD_AN_genome:30846,GnomAD:0.5129;SGVEP=ECE2|+|NM_001037324|4|c.516+17G>A|.|intronic GT:DP:AD:DP4 0/1:77:52,25:26,26,12,13 3 183996068 140807853 C T 1145 PASS VARTYPE=1;BGN=0.00118013;ARL=220;DER=80;DEA=101;QR=36;QA=37;PBP=543;PBM=612;TYPE=SNP;DBXREF=dbSNP:rs3752904,g1000:0.5020,esp5400:0.5541,ExAC:0.5100,GnomAD_AC_exome:127023,GnomAD_AN_exome:245792,GnomAD_AC_genome:16130,GnomAD_AN_genome:30852,GnomAD:0.5175;SGVEP=ECE2|+|NM_001037324|5|c.630C>T|p.(Ala210:)|synonymous GT:DP:AD:DP4 0/1:120:69,51:33,36,24,27 3 183996213 140807886 C T 428 off_target VARTYPE=1;BGN=0.00118013;ARL=267;DER=96;DEA=133;QR=35;QA=37;PBP=230;PBM=203;TYPE=SNP;DBXREF=dbSNP:rs843372,g1000:0.7915,esp5400:0.8077,GnomAD_AC_genome:24772,GnomAD_AN_genome:30878,GnomAD:0.8023;SGVEP=ECE2|+|NM_001037324|6|c.664-67C>T|.|intronic GT:DP:AD:DP4 0/1:27:10,17:5,5,9,8 3 184003194 140808847 C T 212 off_target VARTYPE=1;BGN=0.00141601;ARL=252;DER=72;DEA=60;QR=36;QA=36;PBP=108;PBM=109;TYPE=SNP;DBXREF=dbSNP:rs1687230,g1000:0.6891,GnomAD_AC_genome:20650,GnomAD_AN_genome:30848,GnomAD:0.6694;SGVEP=ECE2|+|NM_001037324|9|c.1062-72C>T|.|intronic GT:DP:AD:DP4 0/1:29:19,10:10,9,5,5 3 184010048 140810389 G C 602 off_target VARTYPE=1;BGN=0.00141601;ARL=231;DER=54;DEA=48;QR=36;QA=36;PBP=305;PBM=305;TYPE=SNP;DBXREF=dbSNP:rs3914188,g1000:0.7029,esp5400:0.7451,ExAC:0.7290,GnomAD_AC_exome:179328,GnomAD_AN_exome:244466,GnomAD_AC_genome:22068,GnomAD_AN_genome:30854,GnomAD:0.7315;SGVEP=ECE2|+|NM_001037324|18|c.*22G>C|.|3'UTR GT:DP:AD:DP4 0/1:70:42,28:21,21,14,14 3 184037533 140815526 A G 1902 PASS VARTYPE=1;BGN=0.00141601;ARL=224;DEA=102;QA=36;PBP=938;PBM=967;TYPE=SNP;DBXREF=dbSNP:rs13319149,g1000:0.9992,esp5400:0.9977,ExAC:0.9970,PhyloP:-0.5430,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9860,MutationTaster:0.0330,GERP:-1.8400,GnomAD_AC_exome:234520,GnomAD_AN_exome:234992,GnomAD_AC_genome:30853,GnomAD_AN_genome:30930,GnomAD:0.9979;SGVEP=EIF4G1|+|NM_001194946|8|c.502A>G|p.(Thr168Ala)|missense GT:DP:AD:DP4 1/1:67:0,67:0,0,33,34 3 184038874 140815758 A T 274 off_target VARTYPE=1;BGN=0.00118013;ARL=255;DER=102;DEA=125;QR=34;QA=37;PBP=115;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs9846954,g1000:0.3882,GnomAD_AC_genome:10433,GnomAD_AN_genome:30894,GnomAD:0.3377;SGVEP=EIF4G1|+|NM_001194946|10|c.718+93A>T|.|intronic GT:DP:AD:DP4 0/1:29:17,12:8,9,5,7 3 184039666 140816021 A G 921 PASS VARTYPE=1;BGN=0.00141601;ARL=228;DER=93;DEA=107;QR=34;QA=36;PBP=480;PBM=449;TYPE=SNP;DBXREF=dbSNP:rs2178403,g1000:0.7823,esp5400:0.8235,ExAC:0.7550,PhyloP:0.3100,SIFT:0.3490,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.0550,MutationTaster:0.0000,GERP:2.7700,GnomAD_AC_exome:185699,GnomAD_AN_exome:246108,GnomAD_AC_genome:24273,GnomAD_AN_genome:30914,GnomAD:0.7580;SGVEP=EIF4G1|+|NM_001194946|11|c.1315A>G|p.(Met439Val)|missense GT:DP:AD:DP4 0/1:85:44,41:21,23,21,20 3 184045799 140818009 A G 1245 off_target VARTYPE=1;BGN=0.00118013;ARL=237;DER=58;DEA=65;QR=36;QA=37;PBP=622;PBM=634;TYPE=SNP;DBXREF=dbSNP:rs939317,g1000:0.7869,esp5400:0.8146,ExAC:0.7570,GnomAD_AC_exome:179680,GnomAD_AN_exome:236576,GnomAD_AC_genome:24175,GnomAD_AN_genome:30906,GnomAD:0.7621;SGVEP=EIF4G1|+|NM_001194946|27|c.3974+9A>G|.|intronic GT:DP:AD:DP4 0/1:104:51,53:23,28,26,27 3 184046355 140818113 C T 330 off_target VARTYPE=1;BGN=0.00244612;ARL=256;DER=35;DEA=61;QR=36;QA=33;PBP=191;PBM=145;TYPE=SNP;DBXREF=dbSNP:rs1879244,g1000:0.7786,GnomAD_AC_genome:24226,GnomAD_AN_genome:30848,GnomAD:0.7853;SGVEP=EIF4G1|+|NM_001194946|28|c.3975-64C>T|.|intronic GT:DP:AD:DP4 0/1:32:16,16:8,8,9,7 3 184064916 140821176 C A 134 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=257;DER=34;DEA=14;QR=31;QA=36;PBP=70;PBM=68;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2293603,g1000:0.1839,GnomAD_AC_genome:4333,GnomAD_AN_genome:30892,GnomAD:0.1403;SGVEP=CLCN2|-|NM_001171087|23|c.2365-107G>T|.|intronic GT:DP:AD:DP4 0/1:15:9,6:4,5,3,3 3 184069654 140821718 G A 410 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=280;DEA=52;QA=37;PBP=205;PBM=205;TYPE=SNP;DBXREF=dbSNP:rs4912540,g1000:0.4537,GnomAD_AC_genome:10501,GnomAD_AN_genome:30830,GnomAD:0.3406;SGVEP=CLCN2|-|NM_001171087|22|c.2364+147C>T|.|intronic GT:DP:AD:DP4 1/1:14:0,14:0,0,7,7 3 184070675 140822081 A G 1779 off_target VARTYPE=1;BGN=0.00118013;ARL=247;DEA=80;QA=37;PBP=906;PBM=877;TYPE=SNP;DBXREF=dbSNP:rs3749223,g1000:0.7344,GnomAD_AC_genome:22660,GnomAD_AN_genome:30882,GnomAD:0.7338;SGVEP=CLCN2|-|NM_001171087|19|c.2093-77T>C|.|intronic GT:DP:AD:DP4 1/1:61:0,61:0,0,31,30 3 184071063 77952 G C 1202 PASS VARTYPE=1;BGN=0.00118013;ARL=216;DER=69;DEA=71;QR=37;QA=37;PBP=619;PBM=593;TYPE=SNP;DBXREF=dbSNP:rs9820367,g1000:0.4613,esp5400:0.5941,ExAC:0.4890,PhyloP:1.3950,SIFT:0.2010,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.9740,MutationTaster:1.0000,GERP:4.7200,clinvar:rs9820367,CLNSIG:Uncertain_significance,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:116644,GnomAD_AN_exome:246122,GnomAD_AC_genome:16375,GnomAD_AN_genome:30840,GnomAD:0.4803;SGVEP=CLCN2|-|NM_001171087|17|c.1952C>G|p.(Thr651Ser)|missense GT:DP:AD:DP4 0/1:99:48,51:24,24,26,25 3 184075047 140823323 A G 2250 PASS VARTYPE=1;BGN=0.00141601;ARL=248;DER=1;DEA=87;QR=29;QA=36;PBP=1121;PBM=1137;TYPE=SNP;DBXREF=dbSNP:rs2228291,g1000:0.3550,esp5400:0.3076,ExAC:0.2910,GnomAD_AC_exome:72645,GnomAD_AN_exome:246062,GnomAD_AC_genome:9432,GnomAD_AN_genome:30812,GnomAD:0.2964;SGVEP=CLCN2|-|NM_001171087|9|c.906T>C|p.(Ile302:)|synonymous GT:DP:AD:DP4 1/1:81:1,80:1,0,40,40 3 184090242 140828765 C T 280 low_coverage;off_target VARTYPE=1;BGN=0.00203864;ARL=245;DER=68;DEA=67;QR=37;QA=34;PBP=138;PBM=147;TYPE=SNP;DBXREF=dbSNP:rs78565404,g1000:0.0619,clinvar:rs78565404,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:1797,GnomAD_AN_genome:30962,GnomAD:0.0580;SGVEP=THPO|-|NM_000460|6|c.*59G>A|.|3'UTR GT:DP:AD:DP4 0/1:18:6,12:4,2,6,6 3 184090266 140828773 C T 1080 off_target VARTYPE=1;BGN=0.00141601;ARL=219;DEA=54;QA=36;PBP=569;PBM=512;TYPE=SNP;DBXREF=dbSNP:rs6141,g1000:0.6406,esp5400:0.6743,ExAC:0.5630,clinvar:rs6141,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:137055,GnomAD_AN_exome:246178,GnomAD_AC_genome:18847,GnomAD_AN_genome:30890,GnomAD:0.5627;SGVEP=THPO|-|NM_000460|6|c.*35G>A|.|3'UTR GT:DP:AD:DP4 1/1:38:0,38:0,0,20,18 3 184091149 140829150 G T 323 off_target VARTYPE=1;BGN=0.00141601;ARL=260;DER=58;DEA=68;QR=36;QA=36;PBP=164;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs6142,g1000:0.3706,ExAC:0.3600,GnomAD_AC_exome:84643,GnomAD_AN_exome:242874,GnomAD_AC_genome:12361,GnomAD_AN_genome:30842,GnomAD:0.3544;SGVEP=THPO|-|NM_000460|5|c.396+54C>A|.|intronic GT:DP:AD:DP4 0/1:28:14,14:7,7,7,7 3 184094183 140829670 A G 1024 PASS VARTYPE=1;BGN=0.00118013;ARL=213;DER=71;DEA=42;QR=37;QA=37;PBP=483;PBM=550;TYPE=SNP;DBXREF=dbSNP:rs956732,g1000:0.5068,clinvar:rs956732,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:15814,GnomAD_AN_genome:30862,GnomAD:0.5124;SGVEP=THPO|-|NM_001290003|3|c.285T>C|p.(Ser95:)|synonymous GT:DP:AD:DP4 0/1:101:56,45:26,30,21,24 3 184098193 140830062 A C 1880 PASS VARTYPE=1;BGN=0.00141601;ARL=207;DER=78;DEA=102;QR=34;QA=36;PBP=932;PBM=963;TYPE=SNP;DBXREF=dbSNP:rs1920128,esp5400:0.1253,ExAC:0.1880,GnomAD_AC_exome:20211,GnomAD_AN_exome:58758,GnomAD_AC_genome:9160,GnomAD_AN_genome:27118,GnomAD:0.3420;SGVEP=CHRD|+|NM_001304472|1|c.87A>C|p.(Pro29:)|synonymous GT:DP:AD:DP4 0/1:181:96,85:49,47,42,43 3 184098647 140830183 C T 505 off_target VARTYPE=1;BGN=0.00169904;ARL=237;DER=65;DEA=46;QR=35;QA=35;PBP=180;PBM=333;TYPE=SNP;DBXREF=dbSNP:rs885650,g1000:0.1657,GnomAD_AC_genome:6610,GnomAD_AN_genome:30768,GnomAD:0.2148;SGVEP=CHRD|+|NM_001304472|2|c.252+64C>T|.|intronic GT:DP:AD:DP4 0/1:38:16,22:8,8,8,14 3 184099378 140830456 C A 1047 PASS VARTYPE=1;BGN=0.00118013;ARL=217;DER=90;DEA=89;QR=36;QA=37;PBP=429;PBM=631;TYPE=SNP;DBXREF=dbSNP:rs35929225,g1000:0.1625,esp5400:0.2531,ExAC:0.2380,GnomAD_AC_exome:56907,GnomAD_AN_exome:232654,GnomAD_AC_genome:6583,GnomAD_AN_genome:30900,GnomAD:0.2409;SGVEP=CHRD|+|NM_001304472|4|c.477C>A|p.(Gly159:)|synonymous GT:DP:AD:DP4 0/1:127:79,48:40,39,20,28 3 184100961 140831043 G GT 806 off_target VARTYPE=1;BGN=0.0035217;ARL=221;DER=58;DEA=92;QR=36;QA=31;PBP=342;PBM=473;TYPE=INDEL;DBXREF=dbSNP:rs3833587,g1000:0.3093,ExAC:0.3520,GnomAD_AC_exome:82855,GnomAD_AN_exome:224006,GnomAD_AC_genome:10100,GnomAD_AN_genome:30642,GnomAD:0.3650;SGVEP=CHRD|+|NM_001304472|10|c.1213+10_1213+11insT|.|intronic GT:DP:AD:DP4 0/1:78:36,42:18,18,18,24 3 184104050 140831785 G A 193 off_target VARTYPE=1;BGN=0.00203864;ARL=260;DER=46;DEA=58;QR=36;QA=34;PBP=100;PBM=98;SP=0;TYPE=SNP;DBXREF=dbSNP:rs62287513,g1000:0.1719,GnomAD_AC_genome:6650,GnomAD_AN_genome:30850,GnomAD:0.2156;SGVEP=CHRD|+|NM_001304472|15|c.1932+103G>A|.|intronic GT:DP:AD:DP4 0/1:31:21,10:10,11,5,5 3 184910085 140952823 GTTTTTTT GTTTTTTTT 236 PASS VARTYPE=1;BGN=0.0362698;ARL=222;DER=73;DEA=98;QR=37;QA=38;HL=7;PBP=139;PBM=105;TYPE=INDEL;DBXREF=dbSNP:rs747455018,ExAC:0.0001,GnomAD_AC_exome:29,GnomAD_AN_exome:245946,GnomAD_AC_genome:4,GnomAD_AN_genome:30970,GnomAD:0.0001;SGVEP=EHHADH|-|NM_001166415|7|c.1812dupA|p.(Leu605Thrfs*20)|frameshift GT:DP:AD:DP4 0/1:55:28,27:14,14,15,12 3 184910133 140952864 G T 735 PASS VARTYPE=1;BGN=0.00118013;ARL=228;DER=79;DEA=85;QR=36;QA=37;PBP=380;PBM=363;TYPE=SNP;DBXREF=dbSNP:rs11919970,g1000:0.1777,esp5400:0.1786,ExAC:0.1140,PhyloP:1.4470,SIFT:0.5550,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0040,LRT:0.9210,MutationTaster:1.0000,GERP:3.9000,GnomAD_AC_exome:26684,GnomAD_AN_exome:245832,GnomAD_AC_genome:4955,GnomAD_AN_genome:30898,GnomAD:0.1143;SGVEP=EHHADH|-|NM_001166415|7|c.1765C>A|p.(Gln589Lys)|missense GT:DP:AD:DP4 0/1:60:29,31:16,13,16,15 3 184911151 140953311 T C 1151 PASS VARTYPE=1;BGN=0.000983543;ARL=222;DER=95;DEA=110;QR=36;QA=38;PBP=583;PBM=579;TYPE=SNP;DBXREF=dbSNP:rs3732933,g1000:0.0733,esp5400:0.0660,ExAC:0.0820,GnomAD_AC_exome:20453,GnomAD_AN_exome:245736,GnomAD_AC_genome:1917,GnomAD_AN_genome:30974,GnomAD:0.0808;SGVEP=EHHADH|-|NM_001166415|7|c.747A>G|p.(Glu249:)|synonymous GT:DP:AD:DP4 0/1:122:72,50:35,37,25,25 3 185229464 140990078 T C 648 PASS VARTYPE=1;BGN=0.00118013;ARL=199;DER=48;DEA=38;QR=37;QA=37;PBP=328;PBM=328;TYPE=SNP;DBXREF=dbSNP:rs61730237,g1000:0.3433,esp5400:0.4172,ExAC:0.4000,GnomAD_AC_exome:97737,GnomAD_AN_exome:246164,GnomAD_AC_genome:12372,GnomAD_AN_genome:30868,GnomAD:0.3975;SGVEP=LIPH|-|NM_139248|9|c.1116A>G|p.(Lys372:)|synonymous GT:DP:AD:DP4 0/1:60:32,28:16,16,14,14 3 185232169 140990403 G A 215 off_target VARTYPE=1;BGN=0.00118013;ARL=223;DER=53;DEA=53;QR=38;QA=37;PBP=110;PBM=110;TYPE=SNP;DBXREF=dbSNP:rs1837882,g1000:0.3540,esp5400:0.4344,ExAC:0.4040,GnomAD_AC_exome:98293,GnomAD_AN_exome:245508,GnomAD_AC_genome:12771,GnomAD_AN_genome:30878,GnomAD:0.4018;SGVEP=LIPH|-|NM_139248|8|c.1094+29C>T|.|intronic GT:DP:AD:DP4 0/1:32:22,10:11,11,5,5 3 185414552 141011677 G C 243 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=252;DER=23;DEA=40;QR=38;QA=37;PBP=99;PBM=149;SP=0;TYPE=SNP;DBXREF=dbSNP:rs56392101,g1000:0.0467,GnomAD_AC_genome:1677,GnomAD_AN_genome:30940,GnomAD:0.0542;SGVEP=IGF2BP2|-|NM_001007225|4|c.289-101C>G|.|intronic GT:DP:AD:DP4 0/1:19:9,10:4,5,4,6 3 186337713 77993 T C 430 PASS VARTYPE=1;BGN=0.000983543;ARL=211;DER=67;DEA=85;QR=37;QA=38;PBP=218;PBM=218;TYPE=SNP;DBXREF=dbSNP:rs4917,g1000:0.7354,esp5400:0.6872,ExAC:0.6830,PhyloP:-0.2930,SIFT:0.0000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.6900,MutationTaster:0.0000,GERP:-0.9130,clinvar:rs4917,CLNSIG:risk_factor,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:165171,GnomAD_AN_exome:244730,GnomAD_AC_genome:21098,GnomAD_AN_genome:30910,GnomAD:0.6758;SGVEP=AHSG|+|NM_001622|6|c.743T>C|p.(Met248Thr)|missense GT:DP:AD:DP4 0/1:40:22,18:11,11,9,9 3 186338382 77994 G C 636 PASS VARTYPE=1;BGN=0.00169904;ARL=223;DER=58;DEA=72;QR=37;QA=35;PBP=357;PBM=288;TYPE=SNP;DBXREF=dbSNP:rs4918,g1000:0.7137,esp5400:0.6587,ExAC:0.6750,PhyloP:-1.1690,SIFT:0.2590,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.1410,MutationTaster:0.0000,GERP:-3.0600,clinvar:rs4918,CLNSIG:risk_factor,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:162300,GnomAD_AN_exome:242376,GnomAD_AC_genome:20354,GnomAD_AN_genome:30836,GnomAD:0.6685;SGVEP=AHSG|+|NM_001622|7|c.767G>C|p.(Ser256Thr)|missense GT:DP:AD:DP4 0/1:80:49,31:25,24,17,14 3 186338425 141124684 A C 10000 PASS VARTYPE=1;BGN=0.00118013;ARL=224;DEA=87;QA=37;PBP=1721;PBM=1576;TYPE=SNP;DBXREF=dbSNP:rs1071592,g1000:0.8147,esp5400:0.7812,ExAC:0.7660,GnomAD_AC_exome:186089,GnomAD_AN_exome:245698,GnomAD_AC_genome:23891,GnomAD_AN_genome:30866,GnomAD:0.7592;SGVEP=AHSG|+|NM_001622|7|c.810A>C|p.(Thr270:)|synonymous GT:DP:AD:DP4 1/1:113:0,113:0,0,59,54 3 186386664 141130161 TAAAAAAAAA TAAAAAAAAAA 181 off_target VARTYPE=1;BGN=0.104463;ARL=259;DEA=42;QA=35;HL=9;PBP=88;PBM=97;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs397688789,GnomAD_AC_genome:28829,GnomAD_AN_genome:29392,GnomAD:0.9808;SGVEP=HRG|+|NM_000412|2|c.184-51dupA|.|intronic GT:DP:AD:DP4 1/1:23:0,21:0,0,10,11 3 186395180 141130871 T C 1518 PASS VARTYPE=1;BGN=0.00118013;ARL=251;DEA=51;QA=37;PBP=702;PBM=818;TYPE=SNP;DBXREF=dbSNP:rs7629680,g1000:0.9984,esp5400:0.9981,ExAC:0.9990,GnomAD_AC_exome:241026,GnomAD_AN_exome:241124,GnomAD_AC_genome:30867,GnomAD_AN_genome:30914,GnomAD:0.9995;SGVEP=HRG|+|NM_000412|7|c.1086T>C|p.(His362:)|synonymous GT:DP:AD:DP4 1/1:52:0,52:0,0,24,28 3 186395400 141130927 G A 1067 PASS VARTYPE=1;BGN=0.00118013;ARL=215;DER=98;DEA=99;QR=36;QA=37;PBP=527;PBM=550;TYPE=SNP;DBXREF=dbSNP:rs2229331,g1000:0.0006,esp5400:0.0044,ExAC:0.0039,PhyloP:-0.3600,SIFT:0.4460,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.4230,MutationTaster:0.0000,GERP:-1.7400,GnomAD_AC_exome:965,GnomAD_AN_exome:245760,GnomAD_AC_genome:157,GnomAD_AN_genome:30928,GnomAD:0.0041;SGVEP=HRG|+|NM_000412|7|c.1306G>A|p.(Gly436Arg)|missense GT:DP:AD:DP4 0/1:106:59,47:29,30,23,24 3 186442833 141135566 G C 494 off_target VARTYPE=1;BGN=0.00118013;ARL=234;DER=40;DEA=46;QR=37;QA=37;PBP=263;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs1656921,g1000:0.5236,esp5400:0.5446,ExAC:0.5320,GnomAD_AC_exome:127391,GnomAD_AN_exome:238130,GnomAD_AC_genome:16450,GnomAD_AN_genome:30850,GnomAD:0.5348;SGVEP=KNG1|+|NM_000893|4|c.392-44G>C|.|intronic GT:DP:AD:DP4 0/1:43:22,21:11,11,11,10 3 186443018 141135700 T C 1068 PASS VARTYPE=1;BGN=0.00118013;ARL=226;DER=82;DEA=80;QR=37;QA=37;PBP=564;PBM=514;TYPE=SNP;DBXREF=dbSNP:rs1656922,g1000:0.5242,esp5400:0.5454,ExAC:0.5370,PhyloP:-0.1280,SIFT:0.2900,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.2230,MutationTaster:0.0000,GERP:-0.3880,GnomAD_AC_exome:132248,GnomAD_AN_exome:246232,GnomAD_AC_genome:16493,GnomAD_AN_genome:30920,GnomAD:0.5367;SGVEP=KNG1|+|NM_000893|4|c.533T>C|p.(Met178Thr)|missense GT:DP:AD:DP4 0/1:95:49,46:25,24,24,22 3 186570892 141167967 T G 490 PASS VARTYPE=1;BGN=0.00118013;ARL=210;DER=93;DEA=76;QR=36;QA=37;PBP=260;PBM=237;TYPE=SNP;DBXREF=dbSNP:rs2241766,g1000:0.1514,esp5400:0.0908,ExAC:0.1290,GnomAD_AC_exome:32935,GnomAD_AN_exome:245918,GnomAD_AC_genome:2793,GnomAD_AN_genome:30904,GnomAD:0.1291;SGVEP=ADIPOQ|+|NM_001177800|3|c.45T>G|p.(Gly15:)|synonymous GT:DP:AD:DP4 0/1:70:47,23:24,23,12,11 3 186571123 141168106 G T 119 off_target VARTYPE=1;BGN=0.00169904;ARL=252;DER=51;DEA=31;QR=34;QA=35;PBP=64;PBM=60;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1501299,g1000:0.3003,GnomAD_AC_genome:9239,GnomAD_AN_genome:30894,GnomAD:0.2991;SGVEP=ADIPOQ|+|NM_001177800|3|c.214+62G>T|.|intronic GT:DP:AD:DP4 0/1:21:15,6:6,9,3,3 3 186947410 141219361 C T 293 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=294;DEA=45;QA=37;PBP=146;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs850318,g1000:0.9379,GnomAD_AC_genome:29381,GnomAD_AN_genome:30926,GnomAD:0.9500;SGVEP=MASP1|-|NM_001879|11|c.1441+138G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 3 186953808 141220424 C T 1065 PASS VARTYPE=1;BGN=0.00118013;ARL=224;DER=100;DEA=103;QR=37;QA=37;PBP=522;PBM=553;TYPE=SNP;DBXREF=dbSNP:rs850312,g1000:0.2119,esp5400:0.2470,ExAC:0.2910,GnomAD_AC_exome:73279,GnomAD_AN_exome:245974,GnomAD_AC_genome:8024,GnomAD_AN_genome:30896,GnomAD:0.2937;SGVEP=MASP1|-|NM_139125|11|c.1851G>A|p.(Leu617:)|synonymous GT:DP:AD:DP4 0/1:107:60,47:31,29,23,24 3 186954285 141220643 A G 2592 PASS VARTYPE=1;BGN=0.00118013;ARL=228;DEA=86;QA=37;PBP=1285;PBM=1314;TYPE=SNP;DBXREF=dbSNP:rs710452,g1000:0.9521,esp5400:0.9545,ExAC:0.9870,GnomAD_AC_exome:243655,GnomAD_AN_exome:246150,GnomAD_AC_genome:29741,GnomAD_AN_genome:30950,GnomAD:0.9866;SGVEP=MASP1|-|NM_139125|11|c.1374T>C|p.(Pro458:)|synonymous GT:DP:AD:DP4 1/1:89:0,89:0,0,44,45 3 186961478 141224858 A G 481 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=252;DEA=51;QA=38;PBP=180;PBM=300;TYPE=SNP;DBXREF=dbSNP:rs710460,g1000:0.9437,GnomAD_AC_genome:29615,GnomAD_AN_genome:30968,GnomAD:0.9563;SGVEP=MASP1|-|NM_001879|9|c.1091-69T>C|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,6,10 3 186969371 141226669 CG CGG 223 off_target VARTYPE=1;BGN=0.00118013;ARL=220;DER=28;DEA=29;QR=35;QA=37;PBP=124;PBM=105;TYPE=INDEL;DBXREF=dbSNP:rs397812572,g1000:0.2484,ExAC:0.2560,GnomAD_AC_exome:62762,GnomAD_AN_exome:245410,GnomAD_AC_genome:8551,GnomAD_AN_genome:30828,GnomAD:0.2582;SGVEP=MASP1|-|NM_001031849|7|c.1011+50dupC|.|intronic GT:DP:AD:DP4 0/1:44:32,11:17,15,6,5 3 186980264 141229450 C T 287 off_target VARTYPE=1;BGN=0.00169904;ARL=264;DER=35;DEA=57;QR=35;QA=35;PBP=159;PBM=134;TYPE=SNP;DBXREF=dbSNP:rs710468,g1000:0.2810,GnomAD_AC_genome:7890,GnomAD_AN_genome:30872,GnomAD:0.2556;SGVEP=MASP1|-|NM_001031849|3|c.415+67G>A|.|intronic GT:DP:AD:DP4 0/1:27:14,13:7,7,7,6 3 187009351 141234843 C G 150 off_target VARTYPE=1;BGN=0.000983543;ARL=230;DER=56;DEA=53;QR=37;QA=38;PBP=90;PBM=65;SP=0;TYPE=SNP;DBXREF=dbSNP:rs16861895,g1000:0.1657,esp5400:0.1657,GnomAD_AC_genome:5106,GnomAD_AN_genome:30914,GnomAD:0.1652;SGVEP=MASP1|-|NM_001031849|1|c.5+65G>C|.|intronic GT:DP:AD:DP4 0/1:28:21,7:10,11,4,3 3 187009372 141234845 G A 186 off_target VARTYPE=1;BGN=0.00118013;ARL=227;DER=66;DEA=60;QR=37;QA=37;PBP=108;PBM=83;SP=0;TYPE=SNP;DBXREF=dbSNP:rs16861896,g1000:0.1659,esp5400:0.1716,ExAC:0.1530,GnomAD_AC_exome:36946,GnomAD_AN_exome:244590,GnomAD_AC_genome:5104,GnomAD_AN_genome:30902,GnomAD:0.1526;SGVEP=MASP1|-|NM_001031849|1|c.5+44C>T|.|intronic GT:DP:AD:DP4 0/1:34:25,9:12,13,5,4 3 187009412 141234872 G A 177 PASS VARTYPE=1;BGN=0.00141601;ARL=229;DER=100;DEA=93;QR=37;QA=36;PBP=80;PBM=102;SP=0;TYPE=SNP;DBXREF=dbSNP:rs72549254,g1000:0.1659,esp5400:0.1711,ExAC:0.1530,GnomAD_AC_exome:37163,GnomAD_AN_exome:245748,GnomAD_AC_genome:5113,GnomAD_AN_genome:30934,GnomAD:0.1528;SGVEP=MASP1|-|NM_001031849|1|c.5+4C>T|.|splice_donor_+4 GT:DP:AD:DP4 0/1:36:27,9:13,14,4,5 3 187440223 141292011 C T 1202 off_target VARTYPE=1;BGN=0.000983543;ARL=220;DER=45;DEA=56;QR=37;QA=38;PBP=550;PBM=664;TYPE=SNP;DBXREF=dbSNP:rs113181701,g1000:0.0112,esp5400:0.0267,ExAC:0.0210,GnomAD_AC_exome:5100,GnomAD_AN_exome:237890,GnomAD_AC_genome:519,GnomAD_AN_genome:30958,GnomAD:0.0209;SGVEP=BCL6|-|NM_001130845|10|c.*23G>A|.|3'UTR GT:DP:AD:DP4 0/1:102:52,50:27,25,23,27 3 187440506 141292087 C A 585 off_target VARTYPE=1;BGN=0.00118013;ARL=271;DEA=50;QA=37;PBP=293;PBM=293;TYPE=SNP;DBXREF=dbSNP:rs1005099,g1000:0.5028,GnomAD_AC_genome:15147,GnomAD_AN_genome:30892,GnomAD:0.4903;SGVEP=BCL6|-|NM_001130845|10|c.1978-117G>T|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,10,10 3 187447032 141293507 G A 10000 PASS VARTYPE=1;BGN=0.00141601;ARL=230;DEA=105;QA=36;PBP=1760;PBM=1930;TYPE=SNP;DBXREF=dbSNP:rs1056932,g1000:0.5653,esp5400:0.4956,ExAC:0.6430,GnomAD_AC_exome:162058,GnomAD_AN_exome:246218,GnomAD_AC_genome:16395,GnomAD_AN_genome:30876,GnomAD:0.6440;SGVEP=BCL6|-|NM_001130845|5|c.1161C>T|p.(Asn387:)|synonymous GT:DP:AD:DP4 1/1:130:0,130:0,0,62,68 3 187447926 141293924 C T 322 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=251;DEA=56;QA=37;PBP=146;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs1491997,g1000:0.5036,GnomAD_AC_genome:15193,GnomAD_AN_genome:30932,GnomAD:0.4912;SGVEP=BCL6|-|NM_001130845|5|c.384-117G>A|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,5,6 3 188123819 141401222 T G 351 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=248;DEA=14;QA=37;PBP=205;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs3732911,g1000:0.7600,GnomAD_AC_genome:24917,GnomAD_AN_genome:30922,GnomAD:0.8058;SGVEP=LPP|+|NM_001167671|3|c.-9-81T>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,7,5 3 188202434 381790499 C A 107 low_variant_fraction VARTYPE=1;BGN=0.000983543;ARL=239;DER=100;DEA=64;QR=37;QA=38;PBP=56;PBM=56;SP=0;TYPE=SNP;DBXREF=PhyloP:2.5680,SIFT:0.9830,PolyPhen2:0.7350,PolyPhen2_HumDiv:0.9760,LRT:0.7100,MutationTaster:1.0000,GERP:4.2400;SGVEP=LPP|+|NM_001167671|4|c.248C>A|p.(Ser83Tyr)|missense GT:DP:AD:DP4 0/1:53:47,6:24,23,3,3 3 188202550 141415349 A T 789 off_target VARTYPE=1;BGN=0.00118013;ARL=269;DEA=78;QA=37;PBP=410;PBM=380;TYPE=SNP;DBXREF=dbSNP:rs2067078,g1000:0.7312,GnomAD_AC_genome:25367,GnomAD_AN_genome:30866,GnomAD:0.8218;SGVEP=LPP|+|NM_001167671|4|c.306+58A>T|.|intronic GT:DP:AD:DP4 1/1:27:0,27:0,0,14,13 3 188202582 141415357 G T 672 off_target VARTYPE=1;BGN=0.00118013;ARL=277;DEA=59;QA=37;PBP=351;PBM=322;TYPE=SNP;DBXREF=dbSNP:rs1559814,g1000:0.9179,GnomAD_AC_genome:28765,GnomAD_AN_genome:30890,GnomAD:0.9312;SGVEP=LPP|+|NM_001167671|4|c.306+90G>T|.|intronic GT:DP:AD:DP4 1/1:23:0,23:0,0,12,11 3 188327461 141430320 C T 582 PASS VARTYPE=1;BGN=0.00141601;ARL=231;DER=110;DEA=96;QR=36;QA=36;PBP=292;PBM=297;TYPE=SNP;DBXREF=dbSNP:rs1059380,g1000:0.5865,esp5400:0.6279,ExAC:0.5840,GnomAD_AC_exome:141854,GnomAD_AN_exome:245682,GnomAD_AC_genome:18823,GnomAD_AN_genome:30826,GnomAD:0.5811;SGVEP=LPP|+|NM_001167671|6|c.942C>T|p.(Asp314:)|synonymous GT:DP:AD:DP4 0/1:56:30,26:16,14,13,13 3 188478019 141451263 G A 914 PASS VARTYPE=1;BGN=0.00141601;ARL=217;DER=109;DEA=90;QR=36;QA=36;PBP=464;PBM=459;TYPE=SNP;DBXREF=dbSNP:rs143323560,g1000:0.0042,esp5400:0.0022,ExAC:0.0042,GnomAD_AC_exome:960,GnomAD_AN_exome:245572,GnomAD_AC_genome:56,GnomAD_AN_genome:30966,GnomAD:0.0037;SGVEP=LPP|+|NM_001167671|8|c.1359G>A|p.(Gly453:)|synonymous GT:DP:AD:DP4 0/1:98:56,42:27,29,21,21 3 188590358 141467187 C T 526 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=256;DEA=44;QA=37;PBP=293;PBM=234;TYPE=SNP;DBXREF=dbSNP:rs4687001,g1000:0.9465,GnomAD_AC_genome:28684,GnomAD_AN_genome:30946,GnomAD:0.9269;SGVEP=LPP|+|NM_001167671|10|c.1590-73C>T|.|intronic GT:DP:AD:DP4 1/1:18:0,18:0,0,10,8 3 188590446 141467218 A G 2100 PASS VARTYPE=1;BGN=0.00141601;ARL=217;DEA=71;QA=36;PBP=1024;PBM=1080;TYPE=SNP;DBXREF=dbSNP:rs1136644,g1000:0.4004,esp5400:0.4258,ExAC:0.4730,GnomAD_AC_exome:116961,GnomAD_AN_exome:246120,GnomAD_AC_genome:13901,GnomAD_AN_genome:30860,GnomAD:0.4725;SGVEP=LPP|+|NM_001167671|10|c.1605A>G|p.(Arg535:)|synonymous GT:DP:AD:DP4 1/1:74:0,74:0,0,36,38 3 189349247 141575150 A T 207 low_coverage;off_target VARTYPE=1;BGN=0.00141601;ARL=244;DER=53;DEA=38;QR=37;QA=36;PBP=118;PBM=93;SP=0;TYPE=SNP;DBXREF=dbSNP:rs28673064,g1000:0.4876,esp5400:0.4604,clinvar:rs28673064,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_genome:14461,GnomAD_AN_genome:30866,GnomAD:0.4685;SGVEP=TP63|+|NM_001329964|1|c.56+34220A>T|.|intronic GT:DP:AD:DP4 0/1:19:10,9:5,5,5,4 3 189582249 141618945 G A 456 off_target VARTYPE=1;BGN=0.00118013;ARL=228;DER=47;DEA=42;QR=35;QA=37;PBP=220;PBM=243;TYPE=SNP;DBXREF=dbSNP:rs2276792,g1000:0.2198,esp5400:0.1965,ExAC:0.1250,clinvar:rs2276792,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:26966,GnomAD_AN_exome:218714,GnomAD_AC_genome:5689,GnomAD_AN_genome:30844,GnomAD:0.1309;SGVEP=TP63|+|NM_001114978|5|c.766+42G>A|.|intronic GT:DP:AD:DP4 0/1:36:17,19:8,9,9,10 3 189587091 141619303 A G 255 off_target VARTYPE=1;BGN=0.000983543;ARL=208;DER=50;DEA=31;QR=35;QA=38;PBP=116;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs6789961,g1000:0.3123,esp5400:0.3460,ExAC:0.2300,clinvar:rs6789961,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:54817,GnomAD_AN_exome:245728,GnomAD_AC_genome:9639,GnomAD_AN_genome:30908,GnomAD:0.2330;SGVEP=TP63|+|NM_001114978|9|c.1130-22A>G|.|intronic GT:DP:AD:DP4 0/1:29:18,11:10,8,5,6 3 189587274 141619327 A G 139 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=243;DER=52;DEA=39;QR=34;QA=38;PBP=73;PBM=71;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6790167,g1000:0.5048,GnomAD_AC_genome:15979,GnomAD_AN_genome:30816,GnomAD:0.5185;SGVEP=TP63|+|NM_001114978|9|c.1212+79A>G|.|intronic GT:DP:AD:DP4 0/1:17:11,6:5,6,3,3 3 189590824 141619531 G C 329 off_target VARTYPE=1;BGN=0.00118013;ARL=238;DER=62;DEA=41;QR=37;QA=37;PBP=130;PBM=206;TYPE=SNP;DBXREF=dbSNP:rs9840359,g1000:0.4876,esp5400:0.5421,ExAC:0.4950,clinvar:rs9840359,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:119288,GnomAD_AN_exome:245340,GnomAD_AC_genome:16756,GnomAD_AN_genome:30840,GnomAD:0.4926;SGVEP=TP63|+|NM_001114978|10|c.1349+40G>C|.|intronic GT:DP:AD:DP4 0/1:42:27,15:14,13,6,9 3 189590825 141619534 G A 367 off_target VARTYPE=1;BGN=0.00118013;ARL=230;DER=53;DEA=39;QR=36;QA=37;PBP=160;PBM=214;TYPE=SNP;DBXREF=dbSNP:rs9840360,g1000:0.2492,esp5400:0.1579,ExAC:0.2110,clinvar:rs9840360,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:49511,GnomAD_AN_exome:245306,GnomAD_AC_genome:7782,GnomAD_AN_genome:30842,GnomAD:0.2075;SGVEP=TP63|+|NM_001114978|10|c.1349+41G>A|.|intronic GT:DP:AD:DP4 0/1:37:21,16:11,10,7,9 3 189604149 141620974 T G 804 off_target VARTYPE=1;BGN=0.00141601;ARL=240;DER=48;DEA=52;QR=37;QA=36;PBP=441;PBM=371;TYPE=SNP;DBXREF=dbSNP:rs1554131,g1000:0.6989,esp5400:0.7791,ExAC:0.7220,clinvar:rs1554131,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:174035,GnomAD_AN_exome:245150,GnomAD_AC_genome:22977,GnomAD_AN_genome:30892,GnomAD:0.7137;SGVEP=TP63|+|NM_001114978|11|c.1350-34T>G|.|intronic GT:DP:AD:DP4 0/1:67:32,35:17,15,19,16 3 189604160 141620977 T C 849 off_target VARTYPE=1;BGN=0.00118013;ARL=236;DER=44;DEA=61;QR=37;QA=37;PBP=439;PBM=419;TYPE=SNP;DBXREF=dbSNP:rs1345186,g1000:0.6995,esp5400:0.7791,ExAC:0.7230,clinvar:rs1345186,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:174398,GnomAD_AN_exome:245536,GnomAD_AC_genome:22985,GnomAD_AN_genome:30900,GnomAD:0.7140;SGVEP=TP63|+|NM_001114978|11|c.1350-23T>C|.|intronic GT:DP:AD:DP4 0/1:81:44,37:23,21,19,18 3 189688569 141636031 C A 296 off_target VARTYPE=1;BGN=0.000983543;ARL=197;DER=36;DEA=37;QR=37;QA=38;PBP=151;PBM=151;TYPE=SNP;DBXREF=dbSNP:rs3732920,g1000:0.4623,esp5400:0.4549,ExAC:0.4750,GnomAD_AC_exome:115753,GnomAD_AN_exome:244578,GnomAD_AC_genome:15302,GnomAD_AN_genome:30850,GnomAD:0.4758;SGVEP=P3H2|-|NM_001134418|13|c.1350+36G>T|.|intronic GT:DP:AD:DP4 0/1:24:12,12:6,6,6,6 3 189837993 141660761 G A 435 off_target VARTYPE=1;BGN=0.00141601;ARL=228;DER=50;DEA=44;QR=34;QA=36;PBP=229;PBM=212;TYPE=SNP;DBXREF=dbSNP:rs710596,g1000:0.5325,esp5400:0.4921,ExAC:0.4690,GnomAD_AC_exome:101384,GnomAD_AN_exome:208146,GnomAD_AC_genome:15625,GnomAD_AN_genome:30884,GnomAD:0.4895;SGVEP=P3H2|-|NM_001134418|1|c.-64+1999C>T|.|intronic GT:DP:AD:DP4 0/1:38:19,19:11,8,10,9 3 190030680 78051 A G 2642 PASS VARTYPE=1;BGN=0.00118013;ARL=221;DER=107;DEA=67;QR=38;QA=37;PBP=1343;PBM=1343;TYPE=SNP;DBXREF=dbSNP:rs9869263,g1000:0.8111,esp5400:0.8201,ExAC:0.8330,clinvar:rs9869263,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:204915,GnomAD_AN_exome:246204,GnomAD_AC_genome:25693,GnomAD_AN_genome:30916,GnomAD:0.8322;SGVEP=CLDN1|-|NM_021101|2|c.369T>C|p.(Gly123:)|synonymous GT:DP:AD:DP4 1/1:94:0,92:0,0,46,46 3 190106071 141702129 AGGG AGG 401 PASS VARTYPE=1;BGN=0.017025;ARL=231;DER=116;DEA=113;QR=36;QA=36;HL=3;PBP=217;PBM=192;TYPE=INDEL;DBXREF=dbSNP:rs368234054,g1000:0.1170,ExAC:0.1940,clinvar:rs368234054,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:47672,GnomAD_AN_exome:245738,GnomAD_AC_genome:5736,GnomAD_AN_genome:30874,GnomAD:0.1931;SGVEP=CLDN16|+|NM_006580|1|c.166del|p.(Ala56Leufs*16)|frameshift GT:DP:AD:DP4 0/1:115:75,40:38,37,21,19 3 190106074 141702134 G C 850 PASS VARTYPE=1;BGN=0.00118013;ARL=230;DER=104;DEA=111;QR=37;QA=37;PBP=453;PBM=406;TYPE=SNP;DBXREF=dbSNP:rs3214506,g1000:0.1170,ExAC:0.1940,PhyloP:-0.4350,SIFT:0.8750,PolyPhen2:0.0150,PolyPhen2_HumDiv:0.0060,LRT:0.0930,MutationTaster:0.0000,GERP:-3.9300,clinvar:rs3214506,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:47674,GnomAD_AN_exome:245726,GnomAD_AC_genome:5737,GnomAD_AN_genome:30868,GnomAD:0.1931;SGVEP=CLDN16|+|NM_006580|1|c.166G>C|p.(Ala56Pro)|missense GT:DP:AD:DP4 0/1:119:79,40:40,39,21,19 3 190106242 141702172 T C 662 off_target VARTYPE=1;BGN=0.000983543;ARL=216;DER=64;DEA=47;QR=34;QA=38;PBP=342;PBM=329;TYPE=SNP;DBXREF=dbSNP:rs1491994,g1000:0.1172,esp5400:0.1952,ExAC:0.1950,clinvar:rs1491994,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:47542,GnomAD_AN_exome:245008,GnomAD_AC_genome:5798,GnomAD_AN_genome:30920,GnomAD:0.1933;SGVEP=CLDN16|+|NM_006580|1|c.324+10T>C|.|intronic GT:DP:AD:DP4 0/1:63:35,28:15,20,14,14 3 191047532 141853096 A G 296 off_target VARTYPE=1;BGN=0.00169904;ARL=227;DER=91;DEA=63;QR=36;QA=35;PBP=127;PBM=175;TYPE=SNP;DBXREF=dbSNP:rs9847278,g1000:0.7768,esp5400:0.6348,ExAC:0.6230,clinvar:rs9847278,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:141297,GnomAD_AN_exome:220722,GnomAD_AC_genome:20580,GnomAD_AN_genome:30800,GnomAD:0.6436;SGVEP=CCDC50|+|NM_174908|1|c.49+20A>G|.|intronic GT:DP:AD:DP4 0/1:34:20,14:10,10,6,8 3 191074873 78072 C G 229 PASS VARTYPE=1;BGN=0.00169904;ARL=221;DER=68;DEA=103;QR=37;QA=35;PBP=105;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs188384,g1000:0.7710,esp5400:0.6232,ExAC:0.6260,clinvar:rs188384,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:153940,GnomAD_AN_exome:245604,GnomAD_AC_genome:20142,GnomAD_AN_genome:30866,GnomAD:0.6297;SGVEP=CCDC50|+|NM_174908|2|c.50-4C>G|.|intronic GT:DP:AD:DP4 0/1:29:18,11:9,9,5,6 3 191093434 141859510 A G 320 off_target VARTYPE=1;BGN=0.00118013;ARL=239;DER=32;DEA=53;QR=36;QA=37;PBP=152;PBM=173;TYPE=SNP;DBXREF=dbSNP:rs293806,g1000:0.7542,GnomAD_AC_genome:19699,GnomAD_AN_genome:30836,GnomAD:0.6388;SGVEP=CCDC50|+|NM_174908|6|c.449-4514A>G|.|intronic GT:DP:AD:DP4 0/1:23:10,13:4,6,6,7 3 191098539 141860487 C G 523 off_target VARTYPE=1;BGN=0.00118013;ARL=224;DER=91;DEA=102;QR=37;QA=37;PBP=263;PBM=266;TYPE=SNP;DBXREF=dbSNP:rs1474188,g1000:0.1094,esp5400:0.0336,ExAC:0.0870,clinvar:rs1474188,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:22219,GnomAD_AN_exome:244108,GnomAD_AC_genome:1963,GnomAD_AN_genome:30932,GnomAD:0.0879;SGVEP=CCDC50|+|NM_174908|7|c.609+19C>G|.|intronic GT:DP:AD:DP4 0/1:43:21,22:11,10,11,11 3 191107192 141861984 A G 351 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=253;DEA=43;QA=37;PBP=176;PBM=176;TYPE=SNP;DBXREF=dbSNP:rs436393,g1000:0.3552,GnomAD_AC_genome:13119,GnomAD_AN_genome:30902,GnomAD:0.4245;SGVEP=CCDC50|+|NM_174908|10|c.795-93A>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 3 193120359 142176824 GA G 344 off_target VARTYPE=1;BGN=0.00141601;ARL=252;DER=51;DEA=36;QR=37;QA=36;PBP=170;PBM=179;TYPE=INDEL;DBXREF=dbSNP:rs142743757,g1000:0.1560,GnomAD_AC_genome:5359,GnomAD_AN_genome:30948,GnomAD:0.1732;SGVEP=ATP13A4|-|NM_032279|30|c.*81del|.|3'UTR GT:DP:AD:DP4 0/1:22:8,14:5,3,7,7 3 193120726 142176968 C T 240 off_target VARTYPE=1;BGN=0.00118013;ARL=229;DER=52;DEA=46;QR=38;QA=37;PBP=96;PBM=149;SP=0;TYPE=SNP;DBXREF=dbSNP:rs62285692,g1000:0.1494,GnomAD_AC_genome:5140,GnomAD_AN_genome:30940,GnomAD:0.1661;SGVEP=ATP13A4|-|NM_032279|30|c.3379-73G>A|.|intronic GT:DP:AD:DP4 0/1:20:10,10:5,5,4,6 3 193153562 142181291 T C 1139 off_target VARTYPE=1;BGN=0.00118013;ARL=223;DEA=55;QA=37;PBP=585;PBM=556;TYPE=SNP;DBXREF=dbSNP:rs1996735,g1000:0.7338,esp5400:0.7663,ExAC:0.7560,GnomAD_AC_exome:185760,GnomAD_AN_exome:245552,GnomAD_AC_genome:23356,GnomAD_AN_genome:30914,GnomAD:0.7564;SGVEP=ATP13A4|-|NM_032279|24|c.2673-29A>G|.|intronic GT:DP:AD:DP4 1/1:39:0,39:0,0,20,19 3 193182715 142191603 T G 557 off_target VARTYPE=1;BGN=0.00118013;ARL=215;DER=41;DEA=51;QR=38;QA=37;PBP=295;PBM=270;TYPE=SNP;DBXREF=dbSNP:rs12696666,g1000:0.2121,esp5400:0.2542,ExAC:0.2120,GnomAD_AC_exome:51937,GnomAD_AN_exome:245562,GnomAD_AC_genome:7445,GnomAD_AN_genome:30884,GnomAD:0.2148;SGVEP=ATP13A4|-|NM_032279|12|c.1461+14A>C|.|intronic GT:DP:AD:DP4 0/1:63:38,25:19,19,13,12 3 193183039 142191755 T C 193 low_coverage;off_target VARTYPE=1;BGN=0.00293505;ARL=252;DER=49;DEA=57;QR=32;QA=32;PBP=101;PBM=94;SP=0;TYPE=SNP;DBXREF=dbSNP:rs7617230,g1000:0.5539,GnomAD_AC_genome:15113,GnomAD_AN_genome:30644,GnomAD:0.4932;SGVEP=ATP13A4|-|NM_032279|12|c.1273-122A>G|.|intronic GT:DP:AD:DP4 1/1:9:1,8:0,1,4,4 3 193183817 142191929 A G 467 PASS VARTYPE=1;BGN=0.00118013;ARL=236;DER=73;DEA=53;QR=36;QA=37;PBP=236;PBM=239;TYPE=SNP;DBXREF=dbSNP:rs3796181,g1000:0.5541,esp5400:0.5112,ExAC:0.4820,GnomAD_AC_exome:117746,GnomAD_AN_exome:245990,GnomAD_AC_genome:15268,GnomAD_AN_genome:30902,GnomAD:0.4804;SGVEP=ATP13A4|-|NM_032279|11|c.1269T>C|p.(Ser423:)|synonymous GT:DP:AD:DP4 0/1:68:46,22:24,22,11,11 3 193209178 142196440 T C 212 PASS VARTYPE=1;BGN=0.00118013;ARL=209;DER=84;DEA=92;QR=38;QA=37;PBP=108;PBM=108;TYPE=SNP;DBXREF=dbSNP:rs6788448,g1000:0.4714,esp5400:0.4388,ExAC:0.4270,PhyloP:0.9920,SIFT:0.8830,PolyPhen2:0.9890,PolyPhen2_HumDiv:0.9990,LRT:1.0000,MutationTaster:1.0000,GERP:4.6300,GnomAD_AC_exome:104896,GnomAD_AN_exome:245466,GnomAD_AC_genome:13104,GnomAD_AN_genome:30888,GnomAD:0.4270;SGVEP=ATP13A4|-|NM_032279|6|c.543A>G|p.(Ile181Met)|missense GT:DP:AD:DP4 0/1:34:24,10:12,12,5,5 3 193210768 142196669 A G 145 low_coverage VARTYPE=1;BGN=0.00203864;ARL=242;DER=82;DEA=122;QR=37;QA=34;PBP=87;PBM=63;SP=0;TYPE=SNP;DBXREF=dbSNP:rs2130407,g1000:0.5274,esp5400:0.4782,ExAC:0.4500,GnomAD_AC_exome:109983,GnomAD_AN_exome:245572,GnomAD_AC_genome:14231,GnomAD_AN_genome:30858,GnomAD:0.4494;SGVEP=ATP13A4|-|NM_032279|5|c.471T>C|p.(Leu157:)|synonymous GT:DP:AD:DP4 0/1:17:10,7:5,5,4,3 3 193272442 142205787 CGTGT C 175 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=279;DEA=56;QA=128;PBP=102;PBM=77;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs879032044,GnomAD_AC_genome:9643,GnomAD_AN_genome:29224,GnomAD:0.3300;SGVEP=ATP13A4|-|NM_032279|1|c.60+83_60+86del|.|intronic GT:DP:AD:DP4 0/1:14:0,7:0,0,4,3 3 193272442 142205792 CGTGTGT C 146 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=279;DEA=49;QA=219;PBP=102;PBM=48;SP=2;TYPE=INDEL;DBXREF=dbSNP:rs879163270,GnomAD_AC_genome:12905,GnomAD_AN_genome:29224,GnomAD:0.4416;SGVEP=ATP13A4|-|NM_032279|1|c.60+81_60+86del|.|intronic GT:DP:AD:DP4 0/1:14:0,6:0,0,4,2 3 193332420 142211612 C CTGTG 146 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=281;DER=80;DEA=57;QR=34;QA=152;PBP=75;PBM=75;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs397943157,g1000:0.3908,GnomAD_AC_genome:13562,GnomAD_AN_genome:30720,GnomAD:0.4415;SGVEP=OPA1|+|NM_015560|2|c.33-90_33-87dup|.|intronic GT:DP:AD:DP4 0/1:14:6,6:3,3,3,3 3 193334991 78124 G A 312 PASS VARTYPE=1;BGN=0.000983543;ARL=211;DER=77;DEA=82;QR=37;QA=38;PBP=160;PBM=158;TYPE=SNP;DBXREF=dbSNP:rs7624750,g1000:0.4681,esp5400:0.4964,ExAC:0.4680,PhyloP:0.1660,SIFT:0.5030,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0010,LRT:0.9930,MutationTaster:1.0000,GERP:3.6400,clinvar:rs7624750,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:115066,GnomAD_AN_exome:245692,GnomAD_AC_genome:15821,GnomAD_AN_genome:30910,GnomAD:0.4732;SGVEP=OPA1|+|NM_015560|4|c.473G>A|p.(Ser158Asn)|missense GT:DP:AD:DP4 0/1:43:29,14:14,15,7,7 3 193336639 78130 T C 313 off_target VARTYPE=1;BGN=0.000983543;ARL=204;DER=52;DEA=89;QR=35;QA=38;PBP=162;PBM=158;TYPE=SNP;DBXREF=dbSNP:rs3772393,g1000:0.3924,esp5400:0.4261,ExAC:0.4230,clinvar:rs3772393,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:104768,GnomAD_AN_exome:246012,GnomAD_AC_genome:13753,GnomAD_AN_genome:30838,GnomAD:0.4281;SGVEP=OPA1|+|NM_015560|5|c.557-19T>C|.|intronic GT:DP:AD:DP4 0/1:42:28,14:13,15,7,7 3 193343761 142212331 C G 134 low_coverage;off_target VARTYPE=1;BGN=0.00169904;ARL=274;DER=36;DEA=103;QR=34;QA=35;PBP=68;PBM=70;SP=0;TYPE=SNP;DBXREF=dbSNP:rs6791301,g1000:0.3916,GnomAD_AC_genome:13746,GnomAD_AN_genome:30852,GnomAD:0.4455;SGVEP=OPA1|+|NM_015560|6|c.625-5640C>G|.|intronic GT:DP:AD:DP4 0/1:13:7,6:4,3,3,3 3 193355074 78146 T C 374 PASS VARTYPE=1;BGN=0.00118013;ARL=204;DER=66;DEA=53;QR=37;QA=37;PBP=176;PBM=203;TYPE=SNP;DBXREF=dbSNP:rs166850,g1000:0.9229,esp5400:0.8753,ExAC:0.8720,clinvar:rs166850,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:213026,GnomAD_AN_exome:244866,GnomAD_AC_genome:27409,GnomAD_AN_genome:30852,GnomAD:0.8720;SGVEP=OPA1|+|NM_015560|8|c.870+4T>C|.|splice_donor_+4 GT:DP:AD:DP4 0/1:25:10,15:5,5,7,8 3 193355102 78147 T C 250 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=216;DER=41;DEA=43;QR=37;QA=37;PBP=102;PBM=152;TYPE=SNP;DBXREF=dbSNP:rs10451941,g1000:0.3898,esp5400:0.4237,ExAC:0.4220,clinvar:rs10451941,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:103726,GnomAD_AN_exome:244106,GnomAD_AC_genome:13632,GnomAD_AN_genome:30668,GnomAD:0.4271;SGVEP=OPA1|+|NM_015560|8|c.870+32T>C|.|intronic GT:DP:AD:DP4 0/1:17:7,10:3,4,4,6 3 193365939 78187 T G 200 off_target VARTYPE=1;BGN=0.00118013;ARL=236;DER=58;DEA=71;QR=36;QA=37;PBP=90;PBM=115;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9831772,g1000:0.0809,esp5400:0.0709,ExAC:0.0860,clinvar:rs9831772,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:22029,GnomAD_AN_exome:245710,GnomAD_AC_genome:2366,GnomAD_AN_genome:30942,GnomAD:0.0882;SGVEP=OPA1|+|NM_015560|18|c.1770+16T>G|.|intronic GT:DP:AD:DP4 0/1:25:16,9:8,8,4,5 3 193365974 142216004 T G 165 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=234;DER=40;DEA=49;QR=36;QA=38;PBP=73;PBM=97;SP=0;TYPE=SNP;DBXREF=dbSNP:rs9831900,g1000:0.4686,esp5400:0.4965,ExAC:0.4640,GnomAD_AC_exome:111836,GnomAD_AN_exome:237832,GnomAD_AC_genome:15829,GnomAD_AN_genome:30882,GnomAD:0.4751;SGVEP=OPA1|+|NM_015560|18|c.1770+51T>G|.|intronic GT:DP:AD:DP4 0/1:18:11,7:5,6,3,4 3 193374964 78193 T C 341 PASS VARTYPE=1;BGN=0.00118013;ARL=223;DER=101;DEA=83;QR=36;QA=37;PBP=163;PBM=185;TYPE=SNP;DBXREF=dbSNP:rs9851685,g1000:0.4665,esp5400:0.4966,ExAC:0.4670,clinvar:rs9851685,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:114995,GnomAD_AN_exome:245966,GnomAD_AC_genome:15734,GnomAD_AN_genome:30864,GnomAD:0.4722;SGVEP=OPA1|+|NM_015560|21|c.2109T>C|p.(Ala703:)|synonymous GT:DP:AD:DP4 0/1:68:51,17:25,26,8,9 3 193384203 142218648 T A 556 off_target VARTYPE=1;BGN=0.00118013;ARL=228;DER=64;DEA=68;QR=38;QA=37;PBP=281;PBM=281;TYPE=SNP;DBXREF=dbSNP:rs10937595,g1000:0.3848,esp5400:0.4172,ExAC:0.4200,GnomAD_AC_exome:103945,GnomAD_AN_exome:245626,GnomAD_AC_genome:13579,GnomAD_AN_genome:30914,GnomAD:0.4250;SGVEP=OPA1|+|NM_015560|26|c.2707+25T>A|.|intronic GT:DP:AD:DP4 0/1:34:12,22:6,6,11,11 3 195300676 142492049 A G 1307 off_target VARTYPE=1;BGN=0.00141601;ARL=242;DEA=62;QA=36;PBP=683;PBM=626;TYPE=SNP;DBXREF=dbSNP:rs1568566,g1000:0.8724,esp5400:0.8840,ExAC:0.8320,GnomAD_AC_exome:196774,GnomAD_AN_exome:237604,GnomAD_AC_genome:27016,GnomAD_AN_genome:30950,GnomAD:0.8333;SGVEP=APOD|-|NM_001647|3|c.245+45T>C|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,24,22 3 195789414 142589147 T C 351 low_coverage;off_target VARTYPE=1;BGN=0.00118013;ARL=207;DEA=29;QA=37;PBP=205;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs2239641,g1000:0.3620,esp5400:0.4920,ExAC:0.5030,GnomAD_AC_exome:117556,GnomAD_AN_exome:233092,GnomAD_AC_genome:14803,GnomAD_AN_genome:30902,GnomAD:0.5014;SGVEP=TFRC|-|NM_001128148|13|c.1468+39A>G|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,7,5 3 195789428 142589173 C A 451 low_coverage;off_target VARTYPE=1;BGN=0.000983543;ARL=196;DEA=39;QA=38;PBP=240;PBM=210;TYPE=SNP;DBXREF=dbSNP:rs507131,g1000:0.6562,esp5400:0.8146,ExAC:0.8230,GnomAD_AC_exome:191227,GnomAD_AN_exome:232874,GnomAD_AC_genome:24770,GnomAD_AN_genome:30960,GnomAD:0.8187;SGVEP=TFRC|-|NM_001128148|13|c.1468+25G>T|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 3 195789708 142589283 G T 1558 off_target VARTYPE=1;BGN=0.000983543;ARL=214;DEA=81;QA=38;PBP=780;PBM=780;TYPE=SNP;DBXREF=dbSNP:rs2239640,g1000:0.3614,esp5400:0.4918,ExAC:0.5030,GnomAD_AC_exome:124139,GnomAD_AN_exome:245818,GnomAD_AC_genome:14724,GnomAD_AN_genome:30840,GnomAD:0.5019;SGVEP=TFRC|-|NM_001128148|12|c.1404+17C>A|.|intronic GT:DP:AD:DP4 1/1:52:0,52:0,0,26,26 3 195798258 142591568 T C 2939 off_target VARTYPE=1;BGN=0.00118013;ARL=222;DEA=61;QA=37;PBP=1518;PBM=1430;TYPE=SNP;DBXREF=dbSNP:rs480760,g1000:0.8942,esp5400:0.8834,ExAC:0.9500,GnomAD_AC_exome:234948,GnomAD_AN_exome:246148,GnomAD_AC_genome:27917,GnomAD_AN_genome:30968,GnomAD:0.9486;SGVEP=TFRC|-|NM_001128148|6|c.687+9A>G|.|intronic GT:DP:AD:DP4 1/1:101:0,101:0,0,52,49 3 195800811 142592039 C T 1779 PASS VARTYPE=1;BGN=0.00118013;ARL=210;DEA=55;QA=37;PBP=906;PBM=877;TYPE=SNP;DBXREF=dbSNP:rs3817672,g1000:0.3063,esp5400:0.4327,ExAC:0.4450,PhyloP:0.0760,SIFT:0.4320,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.1290,MutationTaster:0.0000,GERP:1.5100,GnomAD_AC_exome:110111,GnomAD_AN_exome:244502,GnomAD_AC_genome:13048,GnomAD_AN_genome:30894,GnomAD:0.4472;SGVEP=TFRC|-|NM_001128148|4|c.424G>A|p.(Gly142Ser)|missense GT:DP:AD:DP4 1/1:61:0,61:0,0,31,30 3 196054439 142649675 T G 2302 PASS VARTYPE=1;BGN=0.00118013;ARL=223;DEA=80;QA=37;PBP=1081;PBM=1227;TYPE=SNP;DBXREF=dbSNP:rs6785339,g1000:0.6308,esp5400:0.5420,ExAC:0.6180,PhyloP:0.4070,SIFT:0.9530,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.5150,MutationTaster:0.0000,GERP:3.1000,GnomAD_AC_exome:152121,GnomAD_AN_exome:245800,GnomAD_AC_genome:17410,GnomAD_AN_genome:30882,GnomAD:0.6127;SGVEP=TM4SF19|-|NM_001204897|2|c.23A>C|p.(Gln8Pro)|missense GT:DP:AD:DP4 1/1:79:0,79:0,0,37,42 3 196054488 142649727 A G 1401 off_target VARTYPE=1;BGN=0.00118013;ARL=226;DEA=58;QA=37;PBP=643;PBM=760;TYPE=SNP;DBXREF=dbSNP:rs6782336,g1000:0.6312,esp5400:0.5392,ExAC:0.6170,GnomAD_AC_exome:150124,GnomAD_AN_exome:242412,GnomAD_AC_genome:17408,GnomAD_AN_genome:30874,GnomAD:0.6130;SGVEP=TM4SF19|-|NM_001204897|2|c.-1-26T>C|.|intronic GT:DP:AD:DP4 1/1:48:0,48:0,0,22,26 3 196199204 142686458 G T 591 PASS VARTYPE=1;BGN=0.00118013;ARL=229;DER=105;DEA=96;QR=37;QA=37;PBP=285;PBM=314;TYPE=SNP;DBXREF=dbSNP:rs3796129,g1000:0.4024,esp5400:0.5123,ExAC:0.5400,PhyloP:1.5860,SIFT:0.9420,PolyPhen2:0.2160,PolyPhen2_HumDiv:0.8000,LRT:0.9310,MutationTaster:0.0000,GERP:4.2900,clinvar:rs3796129,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:132410,GnomAD_AN_exome:246102,GnomAD_AC_genome:15559,GnomAD_AN_genome:30882,GnomAD:0.5342;SGVEP=RNF168|-|NM_152617|6|c.1202C>A|p.(Pro401Gln)|missense GT:DP:AD:DP4 0/1:73:46,27:24,22,13,14 3 196210590 142690428 A G 235 off_target VARTYPE=1;BGN=0.00118013;ARL=248;DER=40;DEA=24;QR=37;QA=37;PBP=94;PBM=146;SP=2;TYPE=SNP;DBXREF=dbSNP:rs7643192,g1000:0.5549,esp5400:0.6725,ExAC:0.5930,GnomAD_AC_exome:143391,GnomAD_AN_exome:245554,GnomAD_AC_genome:19695,GnomAD_AN_genome:30918,GnomAD:0.5899;SGVEP=RNF168|-|NM_152617|4|c.680+51T>C|.|intronic GT:DP:AD:DP4 0/1:22:12,10:6,6,4,6 3 196210808 142690692 T C 337 off_target VARTYPE=1;BGN=0.00118013;ARL=237;DER=33;DEA=46;QR=37;QA=37;PBP=160;PBM=183;TYPE=SNP;DBXREF=dbSNP:rs7646174,g1000:0.5613,esp5400:0.6806,ExAC:0.5950,GnomAD_AC_exome:143206,GnomAD_AN_exome:244454,GnomAD_AC_genome:19832,GnomAD_AN_genome:30874,GnomAD:0.5922;SGVEP=RNF168|-|NM_152617|4|c.559-46A>G|.|intronic GT:DP:AD:DP4 0/1:38:23,15:11,12,7,8 3 196674749 142805718 C T 1745 PASS VARTYPE=1;BGN=0.00118013;ARL=219;DER=95;DEA=94;QR=37;QA=37;PBP=881;PBM=878;TYPE=SNP;DBXREF=dbSNP:rs4916589,g1000:0.6322,esp5400:0.6087,ExAC:0.5900,PhyloP:0.9230,SIFT:0.4950,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.9490,MutationTaster:0.9980,GERP:3.4000,GnomAD_AC_exome:144972,GnomAD_AN_exome:245626,GnomAD_AC_genome:19421,GnomAD_AN_genome:30886,GnomAD:0.5945;SGVEP=PIGZ|-|NM_025163|3|c.1019G>A|p.(Arg340Gln)|missense GT:DP:AD:DP4 0/1:141:67,74:33,34,37,37 3 196674879 142805880 A G 3228 PASS VARTYPE=1;BGN=0.00141601;ARL=247;DEA=114;QA=36;PBP=1591;PBM=1647;TYPE=SNP;DBXREF=dbSNP:rs12636891,g1000:0.5925,esp5400:0.4961,ExAC:0.5340,GnomAD_AC_exome:128676,GnomAD_AN_exome:237464,GnomAD_AC_genome:16834,GnomAD_AN_genome:30842,GnomAD:0.5423;SGVEP=PIGZ|-|NM_025163|3|c.889T>C|p.(Leu297:)|synonymous GT:DP:AD:DP4 1/1:114:0,114:0,0,56,58 3 196674916 142805895 A C 2902 PASS VARTYPE=1;BGN=0.00118013;ARL=244;DER=22;DEA=117;QR=36;QA=37;PBP=1442;PBM=1471;TYPE=SNP;DBXREF=dbSNP:rs1147240,g1000:0.5773,esp5400:0.4630,ExAC:0.4560,GnomAD_AC_exome:106284,GnomAD_AN_exome:232144,GnomAD_AC_genome:14111,GnomAD_AN_genome:30842,GnomAD:0.4578;SGVEP=PIGZ|-|NM_025163|3|c.852T>G|p.(Ala284:)|synonymous GT:DP:AD:DP4 1/1:103:1,101:0,1,50,51 3 196674972 142805949 C T 3170 PASS VARTYPE=1;BGN=0.00118013;ARL=236;DEA=102;QA=37;PBP=1576;PBM=1605;TYPE=SNP;DBXREF=dbSNP:rs574365,g1000:0.8051,esp5400:0.5809,ExAC:0.7650,PhyloP:0.5580,SIFT:0.6770,PolyPhen2:0.0030,PolyPhen2_HumDiv:0.0010,LRT:0.6860,MutationTaster:0.0000,GERP:1.9100,GnomAD_AC_exome:178321,GnomAD_AN_exome:231126,GnomAD_AC_genome:24334,GnomAD_AN_genome:30734,GnomAD:0.7739;SGVEP=PIGZ|-|NM_025163|3|c.796G>A|p.(Ala266Thr)|missense GT:DP:AD:DP4 1/1:109:0,109:0,0,54,55 3 196674973 142805954 T C 3170 PASS VARTYPE=1;BGN=0.00118013;ARL=235;DEA=103;QA=37;PBP=1605;PBM=1576;TYPE=SNP;DBXREF=dbSNP:rs573708,g1000:0.8175,esp5400:0.6285,ExAC:0.7660,GnomAD_AC_exome:178236,GnomAD_AN_exome:230844,GnomAD_AC_genome:24730,GnomAD_AN_genome:30728,GnomAD:0.7759;SGVEP=PIGZ|-|NM_025163|3|c.795A>G|p.(Ala265:)|synonymous GT:DP:AD:DP4 1/1:109:0,109:0,0,55,54 3 197432063 142983099 T C 417 off_target VARTYPE=1;BGN=0.00118013;ARL=204;DER=66;DEA=51;QR=37;QA=37;PBP=176;PBM=249;TYPE=SNP;DBXREF=dbSNP:rs58507505,g1000:0.2111,esp5400:0.2431,ExAC:0.1800,GnomAD_AC_exome:42551,GnomAD_AN_exome:244980,GnomAD_AC_genome:7036,GnomAD_AN_genome:30822,GnomAD:0.1798;SGVEP=RUBCN|-|NM_001145642|3|c.40-17A>G|.|intronic GT:DP:AD:DP4 0/1:52:33,19:16,17,8,11 4 648643 5713 G A 1400 PASS VARTYPE=1;BGN=0.00118805;ARL=222;DEA=110;QA=37;PBP=672;PBM=730;TYPE=SNP;DBXREF=dbSNP:rs10902758,g1000:0.9990,esp5400:0.9989,ExAC:1.0000,PhyloP:0.7590,SIFT:0.0000,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.9890,MutationTaster:0.0030,GERP:4.6700,clinvar:rs10902758,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:246174,GnomAD_AN_exome:246218,GnomAD_AC_genome:30895,GnomAD_AN_genome:30918,GnomAD:0.9998;SGVEP=PDE6B|+|NM_000283|6|c.958G>A|p.(Val320Ile)|missense GT:DP:AD:DP4 1/1:48:0,48:0,0,23,25 4 663908 65514666 A G 994 off_target VARTYPE=1;BGN=0.00142525;ARL=215;DEA=55;QA=36;PBP=483;PBM=512;TYPE=SNP;DBXREF=dbSNP:rs28675771,g1000:0.5479,esp5400:0.5798,ExAC:0.6140,clinvar:rs28675771,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:151777,GnomAD_AN_exome:246058,GnomAD_AC_genome:18327,GnomAD_AN_genome:30850,GnomAD:0.6143;SGVEP=PDE6B|+|NM_000283|22|c.*12A>G|.|3'UTR GT:DP:AD:DP4 1/1:35:0,35:0,0,17,18 4 843622 65666253 ACCCCCCCCCC ACCCCCCCCC 184 homopolymer_region;off_target VARTYPE=1;BGN=0.326506;ARL=204;DER=85;DEA=93;QR=24;QA=35;HL=10;PBP=138;PBM=72;SP=13;TYPE=INDEL;DBXREF=dbSNP:rs33919242,g1000:0.9199,GnomAD_AC_genome:9632,GnomAD_AN_genome:22238,GnomAD:0.4331;SGVEP=GAK|-|NM_001318134|24|c.3597+57del|.|intronic GT:DP:AD:DP4 1/1:111:24,84:6,18,45,39 4 843630 65666259 C T 1066 off_target VARTYPE=1;BGN=0.00170982;ARL=199;DER=83;DEA=90;QR=35;QA=35;PBP=513;PBM=566;TYPE=SNP;DBXREF=dbSNP:rs571586422,g1000:0.2342,ExAC:0.3100,GnomAD_AC_exome:40242,GnomAD_AN_exome:119356,GnomAD_AC_genome:5664,GnomAD_AN_genome:27908,GnomAD:0.3117;SGVEP=GAK|-|NM_001318134|24|c.3597+50G>A|.|intronic GT:DP:AD:DP4 0/1:99:49,49:21,28,23,26 4 843695 65666341 A G 10000 PASS VARTYPE=1;BGN=0.00118805;ARL=213;DER=12;DEA=76;QR=36;QA=37;PBP=1749;PBM=2281;TYPE=SNP;DBXREF=dbSNP:rs8093,g1000:0.8007,esp5400:0.7503,ExAC:0.7110,PhyloP:-2.4340,MutationTaster:1.0000,GERP:-9.1300,GnomAD_AC_exome:166598,GnomAD_AN_exome:234570,GnomAD_AC_genome:22365,GnomAD_AN_genome:30158,GnomAD:0.7138;SGVEP=GAK|-|NM_001318134|24|c.3582T>C|p.(Ala1194:)|synonymous GT:DP:AD:DP4 1/1:140:0,139:0,0,60,79 4 844781 65666739 G A 630 PASS VARTYPE=1;BGN=0.00118805;ARL=207;DER=85;DEA=83;QR=37;QA=37;PBP=306;PBM=332;TYPE=SNP;DBXREF=dbSNP:rs75072999,g1000:0.0268,esp5400:0.0680,ExAC:0.0610,PhyloP:0.6250,MutationTaster:1.0000,GERP:2.3300,GnomAD_AC_exome:15058,GnomAD_AN_exome:246262,GnomAD_AC_genome:1722,GnomAD_AN_genome:30926,GnomAD:0.0605;SGVEP=GAK|-|NM_001318134|23|c.3363C>T|p.(Thr1121:)|synonymous GT:DP:AD:DP4 0/1:80:51,29:26,25,14,15 4 845772 65667129 T C 2151 off_target VARTYPE=1;BGN=0.00170982;ARL=226;DEA=58;QA=35;PBP=1050;PBM=1105;TYPE=SNP;DBXREF=dbSNP:rs10031922,g1000:0.9746,esp5400:0.9696,ExAC:0.9580,GnomAD_AC_exome:227873,GnomAD_AN_exome:238448,GnomAD_AC_genome:29922,GnomAD_AN_genome:30926,GnomAD:0.9570;SGVEP=GAK|-|NM_001318134|22|c.3047-10A>G|.|intronic GT:DP:AD:DP4 1/1:78:0,78:0,0,38,40 4 845841 65667170 C T 293 off_target VARTYPE=1;BGN=0.00118805;ARL=257;DER=25;DEA=48;QR=35;QA=37;PBP=96;PBM=203;SP=2;TYPE=SNP;DBXREF=dbSNP:rs17165087,g1000:0.2109,GnomAD_AC_genome:4825,GnomAD_AN_genome:30902,GnomAD:0.1561;SGVEP=GAK|-|NM_001318134|22|c.3047-79G>A|.|intronic GT:DP:AD:DP4 0/1:22:10,12:5,5,4,8 4 858866 65670972 G A 1090 off_target VARTYPE=1;BGN=0.00142525;ARL=244;DER=79;DEA=45;QR=34;QA=36;PBP=645;PBM=455;TYPE=SNP;DBXREF=dbSNP:rs1026739,g1000:0.2710,esp5400:0.2204,ExAC:0.2730,GnomAD_AC_exome:55864,GnomAD_AN_exome:182360,GnomAD_AC_genome:6609,GnomAD_AN_genome:24578,GnomAD:0.3019;SGVEP=GAK|-|NM_001318134|20|c.2929+44C>T|.|intronic GT:DP:AD:DP4 0/1:70:25,45:12,13,26,19 4 858874 65670996 TC TCC 2077 off_target VARTYPE=1;BGN=0.00170982;ARL=243;DEA=61;QA=35;PBP=1116;PBM=967;TYPE=INDEL;DBXREF=dbSNP:rs3214922,g1000:0.7075,ExAC:0.6810,GnomAD_AC_exome:161086,GnomAD_AN_exome:236530,GnomAD_AC_genome:20178,GnomAD_AN_genome:30796,GnomAD:0.6781;SGVEP=GAK|-|NM_001318134|20|c.2929+35dupG|.|intronic GT:DP:AD:DP4 1/1:77:0,76:0,0,41,35 4 858941 65671149 T C 10000 PASS VARTYPE=1;BGN=0.00118805;ARL=225;DEA=86;QA=37;PBP=2213;PBM=2155;TYPE=SNP;DBXREF=dbSNP:rs1026738,g1000:0.9754,esp5400:0.9727,ExAC:0.9600,PhyloP:0.0410,MutationTaster:0.0000,GERP:1.2100,GnomAD_AC_exome:232852,GnomAD_AN_exome:243452,GnomAD_AC_genome:29947,GnomAD_AN_genome:30918,GnomAD:0.9578;SGVEP=GAK|-|NM_001318134|20|c.2898A>G|p.(Ala966:)|synonymous GT:DP:AD:DP4 1/1:150:0,150:0,0,76,74 4 860146 65671690 A G 1749 off_target VARTYPE=1;BGN=0.00118805;ARL=222;DEA=54;QA=37;PBP=963;PBM=788;TYPE=SNP;DBXREF=dbSNP:rs2306248,g1000:0.6530,esp5400:0.6228,ExAC:0.6380,GnomAD_AC_exome:155893,GnomAD_AN_exome:244516,GnomAD_AC_genome:18981,GnomAD_AN_genome:30878,GnomAD:0.6350;SGVEP=GAK|-|NM_001318134|19|c.2806+6T>C|.|intronic GT:DP:AD:DP4 1/1:60:0,60:0,0,33,27 4 860192 65671757 A G 3196 PASS VARTYPE=1;BGN=0.00118805;ARL=220;DEA=66;QA=37;PBP=1661;PBM=1545;TYPE=SNP;DBXREF=dbSNP:rs1064207,g1000:0.6528,esp5400:0.6235,ExAC:0.6380,PhyloP:-1.3900,MutationTaster:1.0000,GERP:-4.8000,GnomAD_AC_exome:156654,GnomAD_AN_exome:245608,GnomAD_AC_genome:19005,GnomAD_AN_genome:30900,GnomAD:0.6353;SGVEP=GAK|-|NM_001318134|19|c.2766T>C|p.(Ser922:)|synonymous GT:DP:AD:DP4 1/1:110:0,110:0,0,57,53 4 862502 65679932 T C 615 off_target VARTYPE=1;BGN=0.00142525;ARL=232;DER=50;DEA=34;QR=36;QA=36;PBP=254;PBM=367;TYPE=SNP;DBXREF=dbSNP:rs2306244,g1000:0.2119,esp5400:0.1449,ExAC:0.1000,GnomAD_AC_exome:28253,GnomAD_AN_exome:140840,GnomAD_AC_genome:4986,GnomAD_AN_genome:30884,GnomAD:0.1936;SGVEP=GAK|-|NM_001318134|17|c.2012-29A>G|.|intronic GT:DP:AD:DP4 0/1:54:27,27:11,16,11,16 4 871624 65685874 C T 583 off_target VARTYPE=1;BGN=0.00118805;ARL=237;DER=44;DEA=66;QR=37;QA=37;PBP=260;PBM=330;TYPE=SNP;DBXREF=dbSNP:rs1564281,g1000:0.3522,esp5400:0.3917,ExAC:0.3770,GnomAD_AC_exome:76678,GnomAD_AN_exome:200474,GnomAD_AC_genome:11737,GnomAD_AN_genome:30852,GnomAD:0.3822;SGVEP=GAK|-|NM_001318134|13|c.1425-27G>A|.|intronic GT:DP:AD:DP4 0/1:52:27,25:12,15,11,14 4 871675 65685937 A G 701 off_target VARTYPE=1;BGN=0.00118805;ARL=260;DEA=39;QA=37;PBP=292;PBM=409;TYPE=SNP;DBXREF=dbSNP:rs1564280,g1000:0.8291,GnomAD_AC_genome:24760,GnomAD_AN_genome:30906,GnomAD:0.8011;SGVEP=GAK|-|NM_001318134|13|c.1425-78T>C|.|intronic GT:DP:AD:DP4 1/1:24:0,24:0,0,10,14 4 875671 65687781 T C 791 off_target VARTYPE=1;BGN=0.00142525;ARL=225;DER=70;DEA=70;QR=36;QA=36;PBP=410;PBM=390;TYPE=SNP;DBXREF=dbSNP:rs45486093,g1000:0.1819,esp5400:0.1243,ExAC:0.1430,GnomAD_AC_exome:32186,GnomAD_AN_exome:168122,GnomAD_AC_genome:4280,GnomAD_AN_genome:30926,GnomAD:0.1832;SGVEP=GAK|-|NM_001318134|12|c.1424+24A>G|.|intronic GT:DP:AD:DP4 0/1:93:56,37:29,27,19,18 4 875887 65688193 G A 938 off_target VARTYPE=1;BGN=0.00118805;ARL=244;DER=69;DEA=53;QR=37;QA=37;PBP=432;PBM=514;TYPE=SNP;DBXREF=dbSNP:rs2279186,g1000:0.1975,GnomAD_AC_genome:7257,GnomAD_AN_genome:30888,GnomAD:0.2349;SGVEP=GAK|-|NM_001318134|12|c.1291-59C>T|.|intronic GT:DP:AD:DP4 0/1:55:18,37:9,9,17,20 4 877709 65689897 T C 427 low_coverage;off_target VARTYPE=1;BGN=0.00142525;ARL=248;DEA=86;QA=36;PBP=228;PBM=199;TYPE=SNP;DBXREF=dbSNP:rs3736083,g1000:0.4922,GnomAD_AC_genome:13679,GnomAD_AN_genome:30846,GnomAD:0.4435;SGVEP=GAK|-|NM_001318134|9|c.1018+116A>G|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 4 882845 65694132 C T 448 off_target VARTYPE=1;BGN=0.00142525;ARL=247;DER=54;DEA=45;QR=35;QA=36;PBP=187;PBM=268;TYPE=SNP;DBXREF=dbSNP:rs9328759,g1000:0.8281,GnomAD_AC_genome:26244,GnomAD_AN_genome:30318,GnomAD:0.8656;SGVEP=GAK|-|NM_001318134|8|c.845-87G>A|.|intronic GT:DP:AD:DP4 0/1:34:15,19:8,7,8,11 4 882849 65694137 C T 413 off_target VARTYPE=1;BGN=0.00118805;ARL=249;DER=50;DEA=46;QR=35;QA=37;PBP=199;PBM=219;TYPE=SNP;DBXREF=dbSNP:rs9328760,g1000:0.8279,GnomAD_AC_genome:26223,GnomAD_AN_genome:30298,GnomAD:0.8655;SGVEP=GAK|-|NM_001318134|8|c.845-91G>A|.|intronic GT:DP:AD:DP4 0/1:31:14,17:6,8,8,9 4 906647 65710604 A G 597 off_target VARTYPE=1;BGN=0.00142525;ARL=253;DEA=47;QA=36;PBP=256;PBM=341;TYPE=SNP;DBXREF=dbSNP:rs2279178,g1000:0.8580,esp5400:0.8673,GnomAD_AC_genome:25938,GnomAD_AN_genome:30914,GnomAD:0.8390;SGVEP=GAK|-|NM_001318134|2|c.146-8080T>C|.|intronic GT:DP:AD:DP4 1/1:21:0,21:0,0,9,12 4 980896 5767 C A 933 PASS VARTYPE=1;BGN=0.00142525;ARL=209;DER=94;DEA=84;QR=36;QA=36;PBP=490;PBM=452;TYPE=SNP;DBXREF=dbSNP:rs11248061,g1000:0.3926,esp5400:0.3695,ExAC:0.4050,PhyloP:-2.2650,MutationTaster:0.0000,GERP:-7.2400,clinvar:rs11248061,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:36744,GnomAD_AN_exome:78172,GnomAD_AC_genome:11769,GnomAD_AN_genome:30616,GnomAD:0.4459;SGVEP=IDUA|+|NM_000203|1|c.24C>A|p.(Ala8:)|synonymous GT:DP:AD:DP4 0/1:113:69,44:37,32,23,21 4 980932 5771 G A 1652 PASS VARTYPE=1;BGN=0.00118805;ARL=205;DER=99;DEA=87;QR=34;QA=37;PBP=877;PBM=789;TYPE=SNP;DBXREF=dbSNP:rs10902762,g1000:0.3944,esp5400:0.6591,ExAC:0.4300,PhyloP:0.0310,LRT:0.4110,MutationTaster:0.0000,GERP:0.6140,clinvar:rs10902762,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:23580,GnomAD_AN_exome:46924,GnomAD_AC_genome:11779,GnomAD_AN_genome:30624,GnomAD:0.4560;SGVEP=IDUA|+|NM_000203|1|c.60G>A|p.(Ala20:)|synonymous GT:DP:AD:DP4 0/1:174:100,74:53,47,39,35 4 980971 5772 T G 10000 PASS VARTYPE=1;BGN=0.00142525;ARL=204;DEA=94;QA=36;PBP=2436;PBM=2521;TYPE=SNP;DBXREF=dbSNP:rs10794537,g1000:0.8920,esp5400:0.9045,ExAC:0.8530,PhyloP:-0.2530,SIFT:0.5390,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:0.7540,MutationTaster:0.9990,GERP:-0.8970,clinvar:rs10794537,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:66653,GnomAD_AN_exome:79358,GnomAD_AC_genome:25783,GnomAD_AN_genome:30742,GnomAD:0.8396;SGVEP=IDUA|+|NM_000203|1|c.99T>G|p.(His33Gln)|missense GT:DP:AD:DP4 1/1:175:0,175:0,0,86,89 4 982852 65793949 G A 1934 PASS VARTYPE=1;BGN=0.00118805;ARL=224;DER=108;DEA=111;QR=37;QA=37;PBP=986;PBM=963;TYPE=SNP;DBXREF=dbSNP:rs3796621,g1000:0.4381,esp5400:0.4332,ExAC:0.4300,GnomAD_AC_exome:92911,GnomAD_AN_exome:197834,GnomAD_AC_genome:13130,GnomAD_AN_genome:30778,GnomAD:0.4638;SGVEP=SLC26A1|-|NM_022042|3|c.1875C>T|p.(Ala625:)|synonymous GT:DP:AD:DP4 0/1:146:65,81:33,32,41,40 4 983060 65794874 T C 1159 PASS VARTYPE=1;BGN=0.00142525;ARL=239;DER=109;DEA=120;QR=36;QA=36;PBP=595;PBM=575;TYPE=SNP;DBXREF=dbSNP:rs3796622,g1000:0.6857,esp5400:0.6511,ExAC:0.6680,PhyloP:-0.5000,SIFT:0.6130,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:0.9910,MutationTaster:0.0000,GERP:-1.2500,GnomAD_AC_exome:163788,GnomAD_AN_exome:243566,GnomAD_AC_genome:20222,GnomAD_AN_genome:30814,GnomAD:0.6706;SGVEP=SLC26A1|-|NM_022042|3|c.1667A>G|p.(Gln556Arg)|missense GT:DP:AD:DP4 0/1:143:88,55:45,43,28,27 4 983809 65797232 C T 2023 PASS VARTYPE=1;BGN=0.00118805;ARL=219;DER=104;DEA=104;QR=37;QA=37;PBP=1062;PBM=977;TYPE=SNP;DBXREF=dbSNP:rs4690221,g1000:0.3890,esp5400:0.3856,ExAC:0.3810,GnomAD_AC_exome:83879,GnomAD_AN_exome:199930,GnomAD_AC_genome:12032,GnomAD_AN_genome:30868,GnomAD:0.4156;SGVEP=SLC26A1|-|NM_022042|3|c.918G>A|p.(Ser306:)|synonymous GT:DP:AD:DP4 0/1:173:86,87:42,44,45,42 4 1019054 65826443 CCA C 157 low_variant_fraction VARTYPE=1;BGN=0.000990318;ARL=219;DER=60;DEA=62;QR=35;QA=75;PBP=93;PBM=70;SP=1;TYPE=INDEL;DBXREF=dbSNP:rs145808953,ExAC:0.0790,GnomAD_AC_exome:9259,GnomAD_AN_exome:90530,GnomAD_AC_genome:30,GnomAD_AN_genome:28392,GnomAD:0.0781;SGVEP=FGFRL1|+|NM_001004356|7|c.1454_1455del|p.(His485Leufs*?)|frameshift GT:DP:AD:DP4 0/1:80:68,9:32,36,5,4 4 1067249 65873728 T C 277 low_coverage;off_target VARTYPE=1;BGN=0.00170982;ARL=286;DEA=37;QA=35;PBP=166;PBM=111;TYPE=SNP;DBXREF=dbSNP:rs2290409,g1000:0.5244,GnomAD_AC_genome:18045,GnomAD_AN_genome:30882,GnomAD:0.5843;SGVEP=RNF212|-|NM_001131034|9|c.574+138A>G|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,6,4 4 1067267 65873734 G T 470 low_coverage;off_target VARTYPE=1;BGN=0.00170982;ARL=281;DEA=42;QA=35;PBP=249;PBM=221;TYPE=SNP;DBXREF=dbSNP:rs2290408,g1000:0.7762,GnomAD_AC_genome:25598,GnomAD_AN_genome:30904,GnomAD:0.8283;SGVEP=RNF212|-|NM_001131034|9|c.574+120C>A|.|intronic GT:DP:AD:DP4 1/1:17:0,17:0,0,9,8 4 1075271 65877214 C T 847 off_target VARTYPE=1;BGN=0.000990318;ARL=216;DER=81;DEA=110;QR=36;QA=38;PBP=431;PBM=426;TYPE=SNP;DBXREF=dbSNP:rs2290407,g1000:0.1673,esp5400:0.1198,ExAC:0.1490,GnomAD_AC_exome:36916,GnomAD_AN_exome:246198,GnomAD_AC_genome:4025,GnomAD_AN_genome:30884,GnomAD:0.1478;SGVEP=RNF212|-|NM_001131034|7|c.416-16G>A|.|intronic GT:DP:AD:DP4 0/1:107:69,38:33,36,19,19 4 1084723 65880386 G C 480 low_coverage;off_target VARTYPE=1;BGN=0.000990318;ARL=248;DEA=34;QA=38;PBP=240;PBM=240;TYPE=SNP;DBXREF=dbSNP:rs658846,g1000:0.8377,GnomAD_AC_genome:26299,GnomAD_AN_genome:30914,GnomAD:0.8507;SGVEP=RNF212|-|NM_001131034|4|c.247-97C>G|.|intronic GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 4 1087171 65881120 G T 292 low_coverage;off_target VARTYPE=1;BGN=0.00118805;ARL=254;DEA=69;QA=37;PBP=146;PBM=146;NVF=0.93;TYPE=SNP;DBXREF=dbSNP:rs59985183,g1000:0.7258,GnomAD_AC_genome:23770,GnomAD_AN_genome:30644,GnomAD:0.7757;SGVEP=RNF212|-|NM_001131034|4|c.247-2545C>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 4 1087265 65881163 T C 1109 PASS VARTYPE=1;BGN=0.00118805;ARL=248;DEA=98;QA=37;PBP=555;PBM=555;NVF=0.98;TYPE=SNP;DBXREF=dbSNP:rs1670534,g1000:0.7758,ExAC:0.6970,PhyloP:-2.2290,SIFT:0.0020,MutationTaster:0.0000,GERP:-2.0600,GnomAD_AC_exome:50834,GnomAD_AN_exome:71566,GnomAD_AC_genome:25594,GnomAD_AN_genome:30914,GnomAD:0.7458;SGVEP=RNF212|-|NM_001193318|4|c.784A>G|p.(Ile262Val)|missense GT:DP:AD:DP4 1/1:38:0,38:0,0,19,19 4 1087327 65881213 G GCTGCCCAGGCTGGAGCCAGCC 942 PASS VARTYPE=1;BGN=0.000990318;ARL=255;DER=29;DEA=97;QR=38;QA=765;PBP=460;PBM=489;NVF=0.98;TYPE=INDEL;DBXREF=dbSNP:rs138488801,GnomAD_AC_genome:25292,GnomAD_AN_genome:30806,GnomAD:0.8210;SGVEP=RNF212|-|NM_001193318|4|c.721_722ins21|p.(Ser241delins8)|inframe_21 GT:DP:AD:DP4 0/1:47:12,35:6,6,17,18 4 1087329 65881256 C T 992 PASS VARTYPE=1;BGN=0.00118805;ARL=266;DEA=121;QA=37;PBP=497;PBM=497;NVF=0.99;TYPE=SNP;DBXREF=dbSNP:rs118112880,g1000:0.7736,GnomAD_AC_exome:94502,GnomAD_AN_exome:127124,GnomAD_AC_genome:25400,GnomAD_AN_genome:30806,GnomAD:0.7592;SGVEP=RNF212|-|NM_001193318|4|c.720G>A|p.(Arg240:)|synonymous GT:DP:AD:DP4 1/1:34:0,34:0,0,17,17 4 1087338 65881307 C T 2097 PASS VARTYPE=1;BGN=0.00118805;ARL=238;DEA=82;QA=37;PBP=1138;PBM=963;NVF=0.99;TYPE=SNP;DBXREF=dbSNP:rs11725984,g1000:0.7736,ExAC:0.7080,GnomAD_AC_exome:96552,GnomAD_AN_exome:129440,GnomAD_AC_genome:25363,GnomAD_AN_genome:30756,GnomAD:0.7610;SGVEP=RNF212|-|NM_001193318|4|c.711G>A|p.(Gly237:)|synonymous GT:DP:AD:DP4 1/1:72:0,72:0,0,39,33 4 1087401 65881378 G A 1259 PASS VARTYPE=1;BGN=0.00118805;ARL=239;DER=110;DEA=107;QR=37;QA=37;PBP=625;PBM=645;NVF=0.57;TYPE=SNP;DBXREF=dbSNP:rs56889100,g1000:0.0280,ExAC:0.0410,GnomAD_AC_exome:7525,GnomAD_AN_exome:131686,GnomAD_AC_genome:1933,GnomAD_AN_genome:30936,GnomAD:0.0582;SGVEP=RNF212|-|NM_001193318|4|c.648C>T|p.(Thr216:)|synonymous GT:DP:AD:DP4 0/1:99:46,53:22,24,26,27 4 1090625 65882869 G A 909 PASS VARTYPE=1;BGN=0.00142525;ARL=211;DEA=79;QA=36;PBP=427;PBM=483;TYPE=SNP;DBXREF=dbSNP:rs4045481,g1000:0.5467,esp5400:0.5674,ExAC:0.6350,GnomAD_AC_exome:157183,GnomAD_AN_exome:246146,GnomAD_AC_genome:18317,GnomAD_AN_genome:30912,GnomAD:0.6334;SGVEP=RNF212|-|NM_001131034|3|c.174C>T|p.(Thr58:)|synonymous GT:DP:AD:DP4 1/1:32:0,32:0,0,15,17 4 1102050 65918565 C T 450 low_coverage;off_target VARTYPE=1;BGN=0.000990318;ARL=252;DEA=61;QA=38;PBP=240;PBM=210;TYPE=SNP;DBXREF=dbSNP:rs4974644,g1000:0.8217,GnomAD_AC_genome:25233,GnomAD_AN_genome:30938,GnomAD:0.8156;SGVEP=RNF212|-|NM_001131034|2|c.171+81G>A|.|intronic GT:DP:AD:DP4 1/1:15:0,15:0,0,8,7 4 1343405 66154257 T C 1302 PASS VARTYPE=1;BGN=0.00118805;ARL=213;DER=94;DEA=95;QR=37;QA=37;PBP=640;PBM=673;TYPE=SNP;DBXREF=dbSNP:rs2276903,g1000:0.6330,esp5400:0.6386,ExAC:0.5790,GnomAD_AC_exome:144135,GnomAD_AN_exome:245852,GnomAD_AC_genome:19559,GnomAD_AN_genome:30834,GnomAD:0.5916;SGVEP=UVSSA|+|NM_001317934|3|c.192T>C|p.(Ile64:)|synonymous GT:DP:AD:DP4 0/1:124:67,57:35,32,28,29 4 1345647 66156816 G A 735 off_target VARTYPE=1;BGN=0.00118805;ARL=222;DER=57;DEA=51;QR=37;QA=37;PBP=348;PBM=395;TYPE=SNP;DBXREF=dbSNP:rs10000797,g1000:0.1262,esp5400:0.1762,ExAC:0.1200,GnomAD_AC_exome:28305,GnomAD_AN_exome:242878,GnomAD_AC_genome:4539,GnomAD_AN_genome:30926,GnomAD:0.1200;SGVEP=UVSSA|+|NM_001317934|4|c.550+24G>A|.|intronic GT:DP:AD:DP4 0/1:70:38,32:18,20,15,17 4 1346682 66157795 G C 235 low_coverage;off_target VARTYPE=1;BGN=0.00118805;ARL=271;DER=47;DEA=41;QR=38;QA=37;PBP=133;PBM=105;TYPE=SNP;DBXREF=dbSNP:rs28711287,g1000:0.1268,GnomAD_AC_genome:4532,GnomAD_AN_genome:30932,GnomAD:0.1465;SGVEP=UVSSA|+|NM_001317934|5|c.551-136G>C|.|intronic GT:DP:AD:DP4 0/1:13:4,9:2,2,5,4 4 1348691 805597492 TGGGGGGGG TGGGGGGGGGGG 324 off_target VARTYPE=1;BGN=0.0606266;ARL=227;DER=64;DEA=66;QR=33;QA=102;HL=8;PBP=221;PBM=115;TYPE=INDEL;DBXREF=GnomAD_AC_genome:85,GnomAD_AN_genome:27674,GnomAD:0.0031;SGVEP=UVSSA|+|NM_001317934|6|c.1047+62_1047+64dup|.|intronic GT:DP:AD:DP4 0/1:43:31,12:17,14,7,5 4 1348806 66161128 A C 254 low_coverage;off_target VARTYPE=1;BGN=0.00142525;ARL=264;DER=140;DEA=50;QR=37;QA=36;PBP=129;PBM=129;TYPE=SNP;DBXREF=dbSNP:rs3903127,g1000:0.3371,GnomAD_AC_genome:14337,GnomAD_AN_genome:30536,GnomAD:0.4695;SGVEP=UVSSA|+|NM_001317934|7|c.1048-99A>C|.|intronic GT:DP:AD:DP4 0/1:14:4,10:2,2,5,5 4 1369093 66178190 C G 339 off_target VARTYPE=1;BGN=0.000990318;ARL=239;DER=77;DEA=63;QR=34;QA=38;PBP=172;PBM=172;TYPE=SNP;DBXREF=dbSNP:rs11941200,g1000:0.7802,GnomAD_AC_genome:23408,GnomAD_AN_genome:30794,GnomAD:0.7601;SGVEP=UVSSA|+|NM_001317934|9|c.1289-59C>G|.|intronic GT:DP:AD:DP4 0/1:30:16,14:8,8,7,7 4 1369094 66178210 T G 325 off_target VARTYPE=1;BGN=0.00118805;ARL=241;DER=74;DEA=64;QR=35;QA=37;PBP=167;PBM=164;TYPE=SNP;DBXREF=dbSNP:rs11946956,g1000:0.7802,GnomAD_AC_genome:23409,GnomAD_AN_genome:30790,GnomAD:0.7603;SGVEP=UVSSA|+|NM_001317934|9|c.1289-58T>G|.|intronic GT:DP:AD:DP4 0/1:31:17,14:8,9,7,7 4 1373699 66182699 CT CTTTT 260 low_coverage;off_target VARTYPE=1;BGN=0.000990318;ARL=266;DER=36;DEA=26;QR=38;QA=109;PBP=172;PBM=90;SP=0;TYPE=INDEL;DBXREF=dbSNP:rs112142388,g1000:0.6931,GnomAD_AC_genome:18753,GnomAD_AN_genome:26010,GnomAD:0.7210;SGVEP=UVSSA|+|NM_001317934|11|c.1569-135_1569-134insTTT|.|intronic GT:DP:AD:DP4 0/1:10:7,3:5,2,2,1 4 1374695 66184525 C A 871 PASS VARTYPE=1;BGN=0.00118805;ARL=225;DER=89;DEA=75;QR=36;QA=37;PBP=464;PBM=416;TYPE=SNP;DBXREF=dbSNP:rs28614045,g1000:0.7003,esp5400:0.6888,ExAC:0.6930,GnomAD_AC_exome:171782,GnomAD_AN_exome:245608,GnomAD_AC_genome:21458,GnomAD_AN_genome:30850,GnomAD:0.6990;SGVEP=UVSSA|+|NM_001317934|12|c.1780C>A|p.(Arg594:)|synonymous GT:DP:AD:DP4 0/1:107:67,40:34,33,21,19 4 1374774 66184825 C T 796 PASS VARTYPE=1;BGN=0.00118805;ARL=229;DER=82;DEA=78;QR=35;QA=37;PBP=406;PBM=399;TYPE=SNP;DBXREF=dbSNP:rs28522910,g1000:0.6965,esp5400:0.6893,ExAC:0.6900,PhyloP:2.0930,SIFT:0.9830,PolyPhen2:0.0350,PolyPhen2_HumDiv:0.6700,LRT:0.9970,MutationTaster:0.9990,GERP:4.5600,GnomAD_AC_exome:169695,GnomAD_AN_exome:243058,GnomAD_AC_genome:21454,GnomAD_AN_genome:30868,GnomAD:0.6978;SGVEP=UVSSA|+|NM_001317934|12|c.1859C>T|p.(Pro620Leu)|missense GT:DP:AD:DP4 0/1:91:55,36:26,29,18,18 4 1374789 66184887 A G 785 off_target VARTYPE=1;BGN=0.00118805;ARL=233;DER=75;DEA=68;QR=36;QA=37;PBP=415;PBM=378;TYPE=SNP;DBXREF=dbSNP:rs28733902,g1000:0.7636,esp5400:0.7530,ExAC:0.7090,GnomAD_AC_exome:171565,GnomAD_AN_exome:240012,GnomAD_AC_genome:23233,GnomAD_AN_genome:30866,GnomAD:0.7191;SGVEP=UVSSA|+|NM_001317934|12|c.1861+13A>G|.|intronic GT:DP:AD:DP4 0/1:84:49,35:22,27,18,17 4 1377615 66186676 A G 847 PASS VARTYPE=1;BGN=0.00142525;ARL=211;DER=78;DEA=76;QR=36;QA=36;PBP=452;PBM=404;TYPE=SNP;DBXREF=dbSNP:rs9996817,g1000:0.7173,esp5400:0.7187,ExAC:0.7190,GnomAD_AC_exome:178140,GnomAD_AN_exome:245472,GnomAD_AC_genome:22211,GnomAD_AN_genome:30826,GnomAD:0.7251;SGVEP=UVSSA|+|NM_001317934|13|c.1923A>G|p.(Ser641:)|synonymous GT:DP:AD:DP4 0/1:81:43,38:22,21,20,18 4 1805593 66496747 G C 890 off_target VARTYPE=1;BGN=0.00142525;ARL=236;DER=58;DEA=52;QR=36;QA=36;PBP=384;PBM=515;TYPE=SNP;DBXREF=dbSNP:rs3135886,g1000:0.0188,esp5400:0.0411,ExAC:0.0370,clinvar:rs3135886,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:9139,GnomAD_AN_exome:244996,GnomAD_AC_genome:1006,GnomAD_AN_genome:30928,GnomAD:0.0368;SGVEP=FGFR3|+|NM_000142|8|c.1075+30G>C|.|intronic GT:DP:AD:DP4 0/1:76:37,39:19,18,17,22 4 1806519 66498369 C T 728 off_target VARTYPE=1;BGN=0.00118805;ARL=235;DER=87;DEA=65;QR=35;QA=37;PBP=403;PBM=333;TYPE=SNP;DBXREF=dbSNP:rs3135890,g1000:0.1100,esp5400:0.0871,ExAC:0.0480,clinvar:rs3135890,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:17893,GnomAD_AN_exome:147828,GnomAD_AC_genome:3038,GnomAD_AN_genome:30922,GnomAD:0.1171;SGVEP=FGFR3|+|NM_000142|10|c.1267-32C>T|.|intronic GT:DP:AD:DP4 0/1:62:31,31:17,14,17,14 4 1807894 66500709 G A 10000 PASS VARTYPE=1;BGN=0.00142525;ARL=228;DER=66;DEA=101;QR=11;QA=36;PBP=2041;PBM=1759;TYPE=SNP;DBXREF=dbSNP:rs7688609,g1000:0.9561,esp5400:0.9540,ExAC:0.9870,GnomAD_AC_exome:242436,GnomAD_AN_exome:244872,GnomAD_AC_genome:29696,GnomAD_AN_genome:30920,GnomAD:0.9867;SGVEP=FGFR3|+|NM_000142|14|c.1953G>A|p.(Thr651:)|synonymous GT:DP:AD:DP4 1/1:134:0,134:0,0,72,62 4 1815990 66506338 G A 1109 off_target VARTYPE=1;BGN=0.00118805;ARL=238;DEA=39;QA=37;PBP=584;PBM=526;TYPE=SNP;DBXREF=dbSNP:rs4865477,g1000:0.9000,GnomAD_AC_genome:28292,GnomAD_AN_genome:30946,GnomAD:0.9142;SGVEP=LETM1|-|NM_012318|14|c.*161C>T|.|3'UTR GT:DP:AD:DP4 1/1:38:0,38:0,0,20,18 4 1818594 66508736 C T 2152 PASS VARTYPE=1;BGN=0.000990318;ARL=231;DEA=81;QA=38;PBP=1109;PBM=1049;TYPE=SNP;DBXREF=dbSNP:rs9328763,g1000:0.9607,esp5400:0.9599,ExAC:0.9890,GnomAD_AC_exome:244149,GnomAD_AN_exome:246258,GnomAD_AC_genome:29883,GnomAD_AN_genome:30960,GnomAD:0.9885;SGVEP=LETM1|-|NM_012318|12|c.1791G>A|p.(Lys597:)|synonymous GT:DP:AD:DP4 1/1:72:0,72:0,0,37,35 4 1834666 66519599 T C 1270 PASS VARTYPE=1;BGN=0.00118805;ARL=223;DER=80;DEA=71;QR=37;QA=37;PBP=619;PBM=662;TYPE=SNP;DBXREF=dbSNP:rs140729898,g1000:0.0116,esp5400:0.0264,ExAC:0.0220,GnomAD_AC_exome:5414,GnomAD_AN_exome:245788,GnomAD_AC_genome:611,GnomAD_AN_genome:30966,GnomAD:0.0218;SGVEP=LETM1|-|NM_012318|6|c.885A>G|p.(Glu295:)|synonymous GT:DP:AD:DP4 0/1:96:43,53:24,19,26,27 4 1843324 66524960 C T 1451 PASS VARTYPE=1;BGN=0.00142525;ARL=221;DER=96;DEA=91;QR=36;QA=36;PBP=765;PBM=699;TYPE=SNP;DBXREF=dbSNP:rs116753949,g1000:0.0204,esp5400:0.0483,ExAC:0.0440,PhyloP:0.6320,SIFT:0.4510,PolyPhen2:0.0020,PolyPhen2_HumDiv:0.0030,LRT:0.0430,MutationTaster:0.0000,GERP:2.0400,GnomAD_AC_exome:10661,GnomAD_AN_exome:246224,GnomAD_AC_genome:1116,GnomAD_AN_genome:30942,GnomAD:0.0425;SGVEP=LETM1|-|NM_012318|3|c.344G>A|p.(Arg115His)|missense GT:DP:AD:DP4 0/1:125:61,64:28,33,33,31 4 1961137 66595171 G A 992 off_target VARTYPE=1;BGN=0.00118805;ARL=248;DEA=48;QA=37;PBP=526;PBM=468;TYPE=SNP;DBXREF=dbSNP:rs474235,g1000:0.6853,GnomAD_AC_genome:20782,GnomAD_AN_genome:30798,GnomAD:0.6748;SGVEP=NSD2|+|NM_001042424|17|c.2986-61G>A|.|intronic GT:DP:AD:DP4 1/1:34:0,34:0,0,18,16 4 2065373 66645212 T G 569 off_target VARTYPE=1;BGN=0.00142525;ARL=278;DEA=37;QA=36;PBP=341;PBM=228;TYPE=SNP;DBXREF=dbSNP:rs454226,g1000:0.7161,GnomAD_AC_genome:24253,GnomAD_AN_genome:30846,GnomAD:0.7863;SGVEP=NAT8L|+|NM_178557|3|c.542-114T>G|.|intronic GT:DP:AD:DP4 1/1:20:0,20:0,0,12,8 4 2065946 66646785 A C 746 off_target VARTYPE=1;BGN=0.00170982;ARL=242;DEA=46;QA=35;PBP=304;PBM=442;TYPE=SNP;DBXREF=dbSNP:rs11248082,g1000:0.8151,GnomAD_AC_genome:26596,GnomAD_AN_genome:30296,GnomAD:0.8779;SGVEP=NAT8L|+|NM_178557|3|c.*92A>C|.|3'UTR GT:DP:AD:DP4 1/1:27:0,27:0,0,11,16 4 2820169 67077875 C G 642 off_target VARTYPE=1;BGN=0.00170982;ARL=231;DER=54;DEA=83;QR=36;QA=35;PBP=247;PBM=404;TYPE=SNP;DBXREF=dbSNP:rs28507721,g1000:0.0771,esp5400:0.0412,GnomAD_AC_genome:3434,GnomAD_AN_genome:30156,GnomAD:0.1139;SGVEP=SH3BP2|+|NM_001122681|2|c.-4-2172C>G|.|intronic GT:DP:AD:DP4 0/1:48:20,28:4,16,10,18 4 2820261 67077917 G A 116 low_coverage;off_target VARTYPE=1;BGN=0.00142525;ARL=248;DER=42;DEA=59;QR=33;QA=36;PBP=25;PBM=93;SP=0;TYPE=SNP;DBXREF=dbSNP:rs28562583,g1000:0.0769,GnomAD_AC_genome:3541,GnomAD_AN_genome:30834,GnomAD:0.1148;SGVEP=SH3BP2|+|NM_001122681|2|c.-4-2080G>A|.|intronic GT:DP:AD:DP4 0/1:11:6,5:1,5,1,4 4 2822289 67078924 C A 360 off_target VARTYPE=1;BGN=0.00118805;ARL=242;DER=65;DEA=42;QR=35;QA=37;PBP=232;PBM=135;TYPE=SNP;DBXREF=dbSNP:rs2239727,g1000:0.5391,GnomAD_AC_genome:16246,GnomAD_AN_genome:30884,GnomAD:0.5260;SGVEP=SH3BP2|+|NM_001122681|2|c.-4-52C>A|.|intronic GT:DP:AD:DP4 0/1:40:24,16:13,11,10,6 4 2822307 67078970 T C 615 off_target VARTYPE=1;BGN=0.00142525;ARL=244;DER=51;DEA=73;QR=37;QA=36;PBP=306;PBM=317;TYPE=SNP;DBXREF=dbSNP:rs56323343,g1000:0.0799,esp5400:0.0993,ExAC:0.0990,GnomAD_AC_exome:24198,GnomAD_AN_exome:246084,GnomAD_AC_genome:3595,GnomAD_AN_genome:30922,GnomAD:0.1003;SGVEP=SH3BP2|+|NM_001122681|2|c.-4-34T>C|.|intronic GT:DP:AD:DP4 0/1:45:19,26:11,8,13,13 4 2824848 67080891 T A 273 low_coverage;off_target VARTYPE=1;BGN=0.00170982;ARL=267;DER=94;DEA=76;QR=28;QA=35;PBP=99;PBM=178;SP=0;TYPE=SNP;DBXREF=dbSNP:rs41264713,g1000:0.0809,GnomAD_AC_genome:3616,GnomAD_AN_genome:30870,GnomAD:0.1171;SGVEP=SH3BP2|+|NM_001122681|3|c.239+84T>A|.|intronic GT:DP:AD:DP4 0/1:15:4,11:2,2,4,7 4 2826218 67081655 C CA 321 low_coverage;off_target VARTYPE=1;BGN=0.00170982;ARL=268;DEA=33;QA=35;PBP=158;PBM=166;TYPE=INDEL;DBXREF=dbSNP:rs34274570,g1000:0.7825,GnomAD_AC_genome:23668,GnomAD_AN_genome:30718,GnomAD:0.7705;SGVEP=SH3BP2|+|NM_001122681|4|c.240-122_240-121insA|.|intronic GT:DP:AD:DP4 1/1:13:0,12:0,0,6,6 4 2826400 67081978 T C 10000 PASS VARTYPE=1;BGN=0.00118805;ARL=206;DEA=97;QA=37;PBP=1778;PBM=1836;TYPE=SNP;DBXREF=dbSNP:rs3213501,g1000:0.7875,esp5400:0.8015,ExAC:0.7530,clinvar:rs3213501,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:185679,GnomAD_AN_exome:245926,GnomAD_AC_genome:23872,GnomAD_AN_genome:30822,GnomAD:0.7572;SGVEP=SH3BP2|+|NM_001122681|4|c.300T>C|p.(His100:)|synonymous GT:DP:AD:DP4 1/1:124:0,124:0,0,61,63 4 2828867 67084999 C T 339 off_target VARTYPE=1;BGN=0.00118805;ARL=238;DER=59;DEA=64;QR=36;QA=37;PBP=172;PBM=172;TYPE=SNP;DBXREF=dbSNP:rs41264715,g1000:0.0196,ExAC:0.0310,GnomAD_AC_exome:7334,GnomAD_AN_exome:217872,GnomAD_AC_genome:1013,GnomAD_AN_genome:30916,GnomAD:0.0336;SGVEP=SH3BP2|+|NM_001122681|6|c.429-90C>T|.|intronic GT:DP:AD:DP4 0/1:26:12,14:6,6,7,7 4 2829077 67085564 T C 1441 off_target VARTYPE=1;BGN=0.00118805;ARL=218;DER=80;DEA=57;QR=24;QA=37;PBP=672;PBM=774;TYPE=SNP;DBXREF=dbSNP:rs2269485,g1000:0.7768,esp5400:0.7856,ExAC:0.7470,GnomAD_AC_exome:184258,GnomAD_AN_exome:245896,GnomAD_AC_genome:23545,GnomAD_AN_genome:30906,GnomAD:0.7507;SGVEP=SH3BP2|+|NM_001122681|6|c.517+32T>C|.|intronic GT:DP:AD:DP4 1/1:51:1,50:0,1,23,27 4 2829478 67086199 G C 540 low_coverage;off_target VARTYPE=1;BGN=0.00142525;ARL=248;DEA=61;QA=36;PBP=228;PBM=313;TYPE=SNP;DBXREF=dbSNP:rs13137906,g1000:0.7770,GnomAD_AC_genome:23495,GnomAD_AN_genome:30826,GnomAD:0.7622;SGVEP=SH3BP2|+|NM_001122681|7|c.586+77G>C|.|intronic GT:DP:AD:DP4 1/1:19:0,19:0,0,8,11 4 2833226 67098758 G C 256 off_target VARTYPE=1;BGN=0.00246075;ARL=234;DER=44;DEA=34;QR=36;QA=33;PBP=150;PBM=112;TYPE=SNP;DBXREF=dbSNP:rs231397,g1000:0.1961,GnomAD_AC_genome:6525,GnomAD_AN_genome:30862,GnomAD:0.2114;SGVEP=SH3BP2|+|NM_001122681|9|c.1242-72G>C|.|intronic GT:DP:AD:DP4 0/1:43:29,14:16,13,8,6 4 2833500 67098816 T C 195 off_target VARTYPE=1;BGN=0.00118805;ARL=274;DER=109;DEA=128;QR=33;QA=37;PBP=90;PBM=110;SP=0;TYPE=SNP;DBXREF=dbSNP:rs1269391,g1000:0.0659,GnomAD_AC_genome:2202,GnomAD_AN_genome:30860,GnomAD:0.0714;SGVEP=SH3BP2|+|NM_001122681|9|c.1350+94T>C|.|intronic GT:DP:AD:DP4 0/1:28:19,9:8,11,4,5 4 2834230 67099029 A G 149 low_coverage;off_target VARTYPE=1;BGN=0.00118805;ARL=255;DER=40;DEA=89;QR=38;QA=37;PBP=78;PBM=75;SP=0;TYPE=SNP;DBXREF=dbSNP:rs56106316,g1000:0.0529,GnomAD_AC_genome:1825,GnomAD_AN_genome:30606,GnomAD:0.0596;SGVEP=SH3BP2|+|NM_001122681|11|c.1488+91A>G|.|intronic GT:DP:AD:DP4 0/1:11:5,6:2,3,3,3 4 2928413 67178087 T C 1429 off_target VARTYPE=1;BGN=0.00118805;ARL=222;DEA=90;QA=37;PBP=672;PBM=759;TYPE=SNP;DBXREF=dbSNP:rs4964,g1000:0.7670,esp5400:0.8190,ExAC:0.7900,GnomAD_AC_exome:193636,GnomAD_AN_exome:244478,GnomAD_AC_genome:24897,GnomAD_AN_genome:30920,GnomAD:0.7935;SGVEP=ADD1|+|NM_001119|14|c.1861+574T>C|.|intronic GT:DP:AD:DP4 1/1:49:0,49:0,0,23,26 4 2965676 67195384 C T 468 low_coverage;off_target VARTYPE=1;BGN=0.00118805;ARL=256;DEA=57;QA=37;PBP=322;PBM=146;TYPE=SNP;DBXREF=dbSNP:rs16843684,g1000:0.2899,ExAC:0.1930,GnomAD_AC_exome:40396,GnomAD_AN_exome:133224,GnomAD_AC_genome:11353,GnomAD_AN_genome:30364,GnomAD:0.3163;SGVEP=GRK4|+|NM_001004056|1|c.-122C>T|.|5'UTR GT:DP:AD:DP4 1/1:16:0,16:0,0,11,5 4 2965695 67195413 G A 730 off_target VARTYPE=1;BGN=0.00118805;ARL=241;DEA=54;QA=37;PBP=438;PBM=292;TYPE=SNP;DBXREF=dbSNP:rs10021191,g1000:0.2987,ExAC:0.1850,GnomAD_AC_exome:44832,GnomAD_AN_exome:145936,GnomAD_AC_genome:11486,GnomAD_AN_genome:30362,GnomAD:0.3194;SGVEP=GRK4|+|NM_001004056|1|c.-103G>A|.|5'UTR GT:DP:AD:DP4 1/1:25:0,25:0,0,15,10 4 2965914 67221879 C A 540 off_target VARTYPE=1;BGN=0.00170982;ARL=205;DER=4;DEA=81;QR=23;QA=35;PBP=25;PBM=525;SP=10;TYPE=SNP;DBXREF=dbSNP:rs10030130,g1000:0.3015,esp5400:0.3313,GnomAD_AC_genome:10614,GnomAD_AN_genome:28294,GnomAD:0.3751;SGVEP=GRK4|+|NM_001004056|1|c.52+65C>A|.|intronic GT:DP:AD:DP4 1/1:21:1,20:1,0,1,19 4 2990499 67232814 G T 2126 PASS VARTYPE=1;BGN=0.00118805;ARL=215;DEA=93;QA=37;PBP=1080;PBM=1051;TYPE=SNP;DBXREF=dbSNP:rs2960306,g1000:0.3125,esp5400:0.4010,ExAC:0.3260,PhyloP:0.9340,SIFT:0.6970,PolyPhen2:0.0010,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.5600,GnomAD_AC_exome:79437,GnomAD_AN_exome:246088,GnomAD_AC_genome:12162,GnomAD_AN_genome:30898,GnomAD:0.3307;SGVEP=GRK4|+|NM_001004056|2|c.98G>T|p.(Arg33Leu)|missense GT:DP:AD:DP4 1/1:73:0,73:0,0,37,36 4 2993980 67234368 T C 480 low_coverage VARTYPE=1;BGN=0.000990318;ARL=213;DEA=106;QA=38;PBP=240;PBM=240;TYPE=SNP;DBXREF=dbSNP:rs2515941,g1000:0.2925,esp5400:0.3807,ExAC:0.3210,GnomAD_AC_exome:78574,GnomAD_AN_exome:245912,GnomAD_AC_genome:11637,GnomAD_AN_genome:30888,GnomAD:0.3259;SGVEP=GRK4|+|NM_001004056|3|c.204T>C|p.(Asp68:)|synonymous GT:DP:AD:DP4 1/1:16:0,16:0,0,8,8 4 3006043 67238201 C T 1719 PASS VARTYPE=1;BGN=0.00118805;ARL=222;DEA=75;QA=37;PBP=876;PBM=847;TYPE=SNP;DBXREF=dbSNP:rs1024323,g1000:0.3732,esp5400:0.4493,ExAC:0.3650,PhyloP:0.0520,SIFT:0.7330,PolyPhen2:0.0040,PolyPhen2_HumDiv:0.0010,LRT:1.0000,MutationTaster:0.0000,GERP:2.1100,GnomAD_AC_exome:89514,GnomAD_AN_exome:245872,GnomAD_AC_genome:14120,GnomAD_AN_genome:30882,GnomAD:0.3745;SGVEP=GRK4|+|NM_001004056|4|c.329C>T|p.(Ala110Val)|missense GT:DP:AD:DP4 1/1:59:0,59:0,0,30,29 4 3024044 67241991 C T 341 low_coverage;off_target VARTYPE=1;BGN=0.00142525;ARL=238;DEA=35;QA=36;PBP=171;PBM=171;TYPE=SNP;DBXREF=dbSNP:rs2471325,g1000:0.2220,GnomAD_AC_genome:9185,GnomAD_AN_genome:30920,GnomAD:0.2971;SGVEP=GRK4|+|NM_001004056|9|c.837-97C>T|.|intronic GT:DP:AD:DP4 1/1:12:0,12:0,0,6,6 4 3076603 67273533 CCAGCAG C 1421 PASS VARTYPE=1;BGN=0.000990318;ARL=210;DER=38;DEA=99;QR=37;QA=220;PBP=865;PBM=575;TYPE=INDEL;DBXREF=dbSNP:rs374076986,g1000:0.3778,ExAC:0.0320,GnomAD_AC_genome:3859,GnomAD_AN_genome:17528,GnomAD:0.2202;SGVEP=HTT|+|NM_002111|1|c.105_110del|p.(Gln37_Gln38del)|inframe_6 GT:DP:AD:DP4 0/1:193:111,65:52,59,38,27 4 3076603 67273536 CCAGCAGCAG C 212 low_variant_fraction VARTYPE=1;BGN=0.000990318;ARL=210;DER=38;DEA=101;QR=37;QA=330;PBP=109;PBM=110;TYPE=INDEL;DBXREF=dbSNP:rs757035717,ExAC:0.0095;SGVEP=HTT|+|NM_002111|1|c.102_110del|p.(Gln36_Gln38del)|inframe_9 GT:DP:AD:DP4 0/1:193:111,14:52,59,7,7 4 3076657 67273710 G A 241 low_variant_fraction VARTYPE=1;BGN=0.0020512;ARL=225;DER=98;DEA=13;QR=36;QA=34;PBP=121;PBM=127;TYPE=SNP;DBXREF=dbSNP:rs9993357,esp5400:0.0331,ExAC:0.0004,GnomAD_AC_exome:90,GnomAD_AN_exome:76306,GnomAD_AC_genome:107,GnomAD_AN_genome:25640,GnomAD:0.0019;SGVEP=HTT|+|NM_002111|1|c.105G>A|p.(Gln35:)|synonymous GT:DP:AD:DP4 0/1:112:96,16:52,44,8,8 4 3219613 67397688 A C 10000 PASS VARTYPE=1;BGN=0.00118805;ARL=219;DEA=91;QA=37;PBP=1632;PBM=1719;TYPE=SNP;DBXREF=dbSNP:rs2857790,g1000:0.9848,esp5400:0.9859,ExAC:0.9950,GnomAD_AC_exome:245261,GnomAD_AN_exome:246120,GnomAD_AC_genome:30535,GnomAD_AN_genome:30954,GnomAD:0.9954;SGVEP=HTT|+|NM_002111|52|c.7176A>C|p.(Leu2392:)|synonymous GT:DP:AD:DP4 1/1:115:0,115:0,0,56,59 4 3230804 67402745 A C 1342 off_target VARTYPE=1;BGN=0.00118805;ARL=238;DEA=45;QA=37;PBP=672;PBM=672;TYPE=SNP;DBXREF=dbSNP:rs2530598,g1000:0.5146,GnomAD_AC_genome:14992,GnomAD_AN_genome:30488,GnomAD:0.4917;SGVEP=HTT|+|NM_002111|59|c.8109+68A>C|.|intronic GT:DP:AD:DP4 1/1:46:0,46:0,0,23,23 4 3236883 67405413 A G 313 low_coverage;off_target VARTYPE=1;BGN=0.00142525;ARL=258;DEA=21;QA=36;PBP=199;PBM=114;TYPE=SNP;DBXREF=dbSNP:rs2858082,g1000:0.8373,GnomAD_AC_genome:26376,GnomAD_AN_genome:30760,GnomAD:0.8575;SGVEP=HTT|+|NM_002111|62|c.8457-128A>G|.|intronic GT:DP:AD:DP4 1/1:11:0,11:0,0,7,4 4 3240526 67407496 A G 966 off_target VARTYPE=1;BGN=0.00142525;ARL=234;DEA=50;QA=36;PBP=455;PBM=512;TYPE=SNP;DBXREF=dbSNP:rs2858081,g1000:0.9890,esp5400:0.9868,ExAC:0.9960,GnomAD_AC_exome:224814,GnomAD_AN_exome:225508,GnomAD_AC_genome:30224,GnomAD_AN_genome:30594,GnomAD:0.9958;SGVEP=HTT|+|NM_002111|66|c.9055-19A>G|.|intronic GT:DP:AD:DP4 1/1:34:0,34:0,0,16,18 4 3475252 6182 T C 10000 PASS VARTYPE=1;BGN=0.00118805;ARL=218;DEA=104;QA=37;PBP=2792;PBM=2676;TYPE=SNP;DBXREF=dbSNP:rs4325970,g1000:1.0000,ExAC:1.0000,clinvar:rs4325970,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD_AC_exome:244916,GnomAD_AN_exome:244916,GnomAD_AC_genome:30928,GnomAD_AN_genome:30928,GnomAD:1.0000;SGVEP=DOK7|+|NM_001164673|3|c.220T>C|p.(Leu74:)|synonymous GT:DP:AD:DP4 1/1:188:0,188:0,0,96,92 4 3769266 67787869 G C 936 PASS VARTYPE=1;BGN=0.00170982;ARL=208;DER=89;DEA=96;QR=31;QA=35;PBP=454;PBM=491;NVF=0.58;TYPE=SNP;DBXREF=dbSNP:rs181208952,g1000:0.1967,esp5400:0.0682,GnomAD_AC_exome:5,GnomAD_AN_exome:36,GnomAD_AC_genome:4159,GnomAD_AN_genome:25234,GnomAD:0.1648;SGVEP=ADRA2C|+|NM_000683|1|c.933G>C|p.(Ala311:)|synonymous GT:DP:AD:DP4 0/1:70:29,41:16,13,20,21 4 3769295 6279 AGGGGGCGGGGCC A 784 PASS VARTYPE=1;BGN=0.000990318;ARL=214;DER=97;DEA=92;QR=30;QA=406;PBP=406;PBM=387;NVF=0.53;TYPE=INDEL;DBXREF=dbSNP:rs61767072,g1000:0.1997,clinvar:rs61767072,CLNSIG:drug_response,CLNREVSTAT:no_assertion_criteria_provided,GnomAD_AC_exome:21,GnomAD_AN_exome:168,GnomAD_AC_genome:4110,GnomAD_AN_genome:25346,GnomAD:0.1619;SGVEP=ADRA2C|+|NM_000683|1|c.971_982del|p.(Gly324_Ala327del)|inframe_12 GT:DP:AD:DP4 0/1:72:36,33:21,15,17,16 4 3769500 67787963 C T 1960 PASS VARTYPE=1;BGN=0.00118805;ARL=205;DER=89;DEA=97;QR=36;QA=37;PBP=894;PBM=1082;NVF=0.53;TYPE=SNP;DBXREF=dbSNP:rs7434630,g1000:0.1897,esp5400:0.1653,ExAC:0.0920,GnomAD_AC_exome:20280,GnomAD_AN_exome:244426,GnomAD_AC_genome:4271,GnomAD_AN_genome:30858,GnomAD:0.0892;SGVEP=ADRA2C|+|NM_000683|1|c.1167C>T|p.(Gly389:)|synonymous GT:DP:AD:DP4 0/1:165:81,84:37,44,38,46 4 3769789 67788087 G GGGGGAGCTTTCCCAGAGACCC 124 off_target VARTYPE=1;BGN=0.000990318;ARL=245;DER=42;DEA=125;QR=36;QA=795;PBP=66;PBM=64;SP=1;NVF=0.97;TYPE=INDEL;DBXREF=dbSNP:rs11269124,g1000:0.3738,GnomAD_AC_genome:14885,GnomAD_AN_genome:24400,GnomAD:0.6100;SGVEP=ADRA2C|+|NM_000683|1|c.*73_*93dup|.|3'UTR GT:DP:AD:DP4 0/1:28:22,6:10,12,3,3 4 4861745 68526868 C G 906 PASS VARTYPE=1;BGN=0.00170982;ARL=229;DER=72;DEA=71;QR=35;QA=35;PBP=436;PBM=480;TYPE=SNP;DBXREF=dbSNP:rs36059701,g1000:0.1036,esp5400:0.1255,ExAC:0.1060,PhyloP:0.3900,SIFT:0.7450,PolyPhen2:0.0140,PolyPhen2_HumDiv:0.0160,LRT:0.8670,MutationTaster:0.0000,GERP:2.9200,GnomAD_AC_exome:14763,GnomAD_AN_exome:98384,GnomAD_AC_genome:4592,GnomAD_AN_genome:30636,GnomAD:0.1500;SGVEP=MSX1|+|NM_002448|1|c.119C>G|p.(Ala40Gly)|missense GT:DP:AD:DP4 0/1:79:38,41:22,16,20,21 4 4862125 68526950 AGGGGGCCGGGT A 283 off_target VARTYPE=1;BGN=0.000990318;ARL=240;DER=55;DEA=98;QR=32;QA=369;PBP=119;PBM=172;NVF=0.55;TYPE=INDEL;DBXREF=dbSNP:rs149370601,g1000:0.7226,ExAC:0.6060,GnomAD_AC_exome:109224,GnomAD_AN_exome:170522,GnomAD_AC_genome:19835,GnomAD_AN_genome:29940,GnomAD:0.6438;SGVEP=MSX1|+|NM_002448|1|c.469+46_469+56del|.|intronic GT:DP:AD:DP4 0/1:29:14,12:7,7,5,7 4 4864381 68571230 A G 553 off_target VARTYPE=1;BGN=0.00142525;ARL=231;DER=61;DEA=47;QR=36;QA=36;PBP=277;PBM=283;TYPE=SNP;DBXREF=dbSNP:rs1042484,g1000:0.1464,esp5400:0.1898,ExAC:0.2000,GnomAD_AC_exome:47458,GnomAD_AN_exome:232062,GnomAD_AC_genome:6212,GnomAD_AN_genome:30894,GnomAD:0.2041;SGVEP=MSX1|+|NM_002448|2|c.470-47A>G|.|intronic GT:DP:AD:DP4 0/1:46:22,24:12,10,12,12 4 4864876 68571350 C T 819 off_target VARTYPE=1;BGN=0.00142525;ARL=233;DER=63;DEA=79;QR=34;QA=36;PBP=339;PBM=489;TYPE=SNP;DBXREF=dbSNP:rs8670,g1000:0.1897,esp5400:0.2026,ExAC:0.2060,GnomAD_AC_exome:44832,GnomAD_AN_exome:202108,GnomAD_AC_genome:7211,GnomAD_AN_genome:30840,GnomAD:0.2234;SGVEP=MSX1|+|NM_002448|2|c.*6C>T|.|3'UTR GT:DP:AD:DP4 0/1:71:35,36:17,18,15,21 4 5570104 69023536 T C 181 off_target VARTYPE=1;BGN=0.00118805;ARL=235;DER=41;DEA=48;QR=36;QA=37;PBP=92;PBM=94;SP=0;TYPE=SNP;DBXREF=dbSNP:rs12508361,g1000:0.4417,GnomAD_AC_genome:9395,GnomAD_AN_genome:30890,GnomAD:0.3041;SGVEP=EVC2|-|NM_001166136|20|c.3317+67A>G|.|intronic GT:DP:AD:DP4 0/1:21:13,8:7,6,4,4 4 5570221 6307 G A 1445 PASS VARTYPE=1;BGN=0.00118805;ARL=207;DER=87;DEA=69;QR=37;QA=37;PBP=740;PBM=717;TYPE=SNP;DBXREF=dbSNP:rs12511039,g1000:0.4409,esp5400:0.2584,ExAC:0.3620,clinvar:rs12511039,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:80019,GnomAD_AN_exome:204878,GnomAD_AC_genome:9321,GnomAD_AN_genome:30688,GnomAD:0.3793;SGVEP=EVC2|-|NM_001166136|20|c.3267C>T|p.(His1089:)|synonymous GT:DP:AD:DP4 0/1:134:71,63:36,35,32,31 4 5577884 69031762 T C 847 off_target VARTYPE=1;BGN=0.00118805;ARL=245;DEA=44;QA=37;PBP=468;PBM=380;TYPE=SNP;DBXREF=dbSNP:rs6840591,g1000:0.9587,GnomAD_AC_genome:30162,GnomAD_AN_genome:30950,GnomAD:0.9745;SGVEP=EVC2|-|NM_001166136|18|c.3032+83A>G|.|intronic GT:DP:AD:DP4 1/1:29:0,29:0,0,16,13 4 5624704 69068326 A G 878 PASS VARTYPE=1;BGN=0.00142525;ARL=222;DER=73;DEA=87;QR=36;QA=36;PBP=429;PBM=457;TYPE=SNP;DBXREF=dbSNP:rs73198153,g1000:0.1180,esp5400:0.1217,ExAC:0.0740,clinvar:rs73198153,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:16727,GnomAD_AN_exome:243792,GnomAD_AC_genome:3303,GnomAD_AN_genome:30924,GnomAD:0.0729;SGVEP=EVC2|-|NM_001166136|14|c.1821T>C|p.(Arg607:)|synonymous GT:DP:AD:DP4 0/1:80:41,39:21,20,19,20 4 5642161 69080723 A G 332 off_target VARTYPE=1;BGN=0.00142525;ARL=269;DER=94;DEA=67;QR=35;QA=36;PBP=181;PBM=156;TYPE=SNP;DBXREF=dbSNP:rs751841,g1000:0.5777,GnomAD_AC_genome:19214,GnomAD_AN_genome:30802,GnomAD:0.6238;SGVEP=EVC2|-|NM_001166136|10|c.1230+80T>C|.|intronic GT:DP:AD:DP4 0/1:35:20,15:10,10,8,7 4 5686967 69097568 C T 300 low_coverage;off_target VARTYPE=1;BGN=0.000990318;ARL=286;DEA=49;QA=38;PBP=150;PBM=150;TYPE=SNP;DBXREF=dbSNP:rs957726,g1000:0.6569,GnomAD_AC_genome:19522,GnomAD_AN_genome:30898,GnomAD:0.6318;SGVEP=EVC2|-|NM_001166136|6|c.576+130G>A|.|intronic GT:DP:AD:DP4 1/1:10:0,10:0,0,5,5 4 5687263 69098179 A G 1894 off_target VARTYPE=1;BGN=0.00118805;ARL=235;DEA=52;QA=37;PBP=934;PBM=963;TYPE=SNP;DBXREF=dbSNP:rs998092,g1000:0.6566,GnomAD_AC_genome:19510,GnomAD_AN_genome:30880,GnomAD:0.6318;SGVEP=EVC2|-|NM_001166136|6|c.467-57T>C|.|intronic GT:DP:AD:DP4 1/1:65:0,65:0,0,32,33 4 5690902 69100862 T C 197 PASS VARTYPE=1;BGN=0.00142525;ARL=234;DER=81;DEA=98;QR=37;QA=36;PBP=102;PBM=100;TYPE=SNP;DBXREF=dbSNP:rs4689278,g1000:0.2652,esp5400:0.2131,ExAC:0.2370,PhyloP:0.1900,SIFT:0.8750,PolyPhen2:0.0280,PolyPhen2_HumDiv:0.0810,LRT:0.8970,MutationTaster:0.0010,GERP:1.9400,clinvar:rs4689278,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD_AC_exome:58691,GnomAD_AN_exome:246208,GnomAD_AC_genome:6742,GnomAD_AN_genome:30922,GnomAD:0.2361;SGVEP=EVC2|-|NM_001166136|5|c.448A>G|p.(Ser150Gly)|missense GT:DP:AD:DP4 0/1:39:29,10:14,15,5,5 4 5730954 69154171 G A 327 off_target VARTYPE=1;BGN=0.00118805;ARL=223;DER=59;DEA=14;QR=37;QA=37;PBP=179;PBM=152;TYPE=SNP;DBXREF=dbSNP:rs2276875,g1000:0.1180,GnomAD_AC_genome:5627,GnomAD_AN_genome:30938,GnomAD:0.1819;SGVEP=EVC|+|NM_001306090|3|c.301-80