##fileformat=VCFv4.2 ##vcfAddFormat.pl-version=0.0.2 ##fileDate=Thu Mar 21 21:27:13 2019 ##genePanel=NES_v3 ##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 20578-0135-S35_53586 1 16370873 435497064 C CACACACAT 179 off_target VARTYPE=1;BGN=0.00123466;ARL=252;DER=119;DEA=69;QR=15;QA=293;PBP=99;PBM=86;SP=0;NVF=0.343;TYPE=INDEL;SGVEP=CLCNKB|+|NM_000085|2|c.-115_-114insACACACAT|.|5'UTR GT:DP:AD:DP4 0/1:99:65,34:38,27,19,15 1 16370873 92446875 C T 876 low_variant_fraction;off_target VARTYPE=1;BGN=0.00157354;ARL=252;DER=119;DEA=33;QR=15;QA=34;PBP=388;PBM=506;NVF=0.071;TYPE=SNP;DBXREF=dbSNP:rs10803411;SGVEP=CLCNKB|+|NM_000085|2|c.-115C>T|.|5'UTR GT:DP:AD:DP4 0/1:99:92,7:57,35,0,7 1 16370873 92446884 C CACACACACAT 591 off_target VARTYPE=1;BGN=0.00123466;ARL=252;DER=119;DEA=84;QR=15;QA=346;PBP=457;PBM=151;NVF=0.454;TYPE=INDEL;DBXREF=g1000:0.7262;SGVEP=CLCNKB|+|NM_000085|2|c.-115_-114insACACACACAT|.|5'UTR GT:DP:AD:DP4 0/1:99:54,45:28,26,29,16 1 16370899 92446898 G A 10000 off_target VARTYPE=1;BGN=0.00144957;ARL=247;DEA=67;QA=35;PBP=1895;PBM=1359;NVF=0.984;TYPE=SNP;DBXREF=dbSNP:rs945394,g1000:0.5429;SGVEP=CLCNKB|+|NM_000085|2|c.-89G>A|.|5'UTR GT:DP:AD:DP4 1/1:122:2,120:1,1,66,54 1 16371067 92447066 G T 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=252;DER=45;DEA=125;QR=32;QA=36;PBP=2840;PBM=3152;NVF=0.991;TYPE=SNP;DBXREF=dbSNP:rs2015352,g1000:0.5555,esp5400:0.5227,ExAC:0.6010,PhyloP:0.8170,SIFT:0.9970,PolyPhen2:0.1620,PolyPhen2_HumDiv:0.4680,LRT:0.9530,MutationTaster:1.0000,GERP:3.1600,GnomAD:0.6271;SGVEP=CLCNKB|+|NM_000085|2|c.80G>T|p.Arg27Leu|missense GT:DP:AD:DP4 1/1:229:2,227:1,1,112,115 1 16371872 92447322 C G 2698 off_target VARTYPE=1;BGN=0.00133007;ARL=259;DER=36;DEA=58;QR=38;QA=36;PBP=1702;PBM=1005;TYPE=SNP;DBXREF=dbSNP:rs6604908,g1000:0.5665;SGVEP=CLCNKB|+|NM_000085|3|c.101-181C>G|.|intronic GT:DP:AD:DP4 1/1:96:1,95:1,0,60,35 1 16371932 92447345 A C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=257;DEA=81;QA=36;PBP=2632;PBM=1805;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs6604909,g1000:0.8199;SGVEP=CLCNKB|+|NM_000085|3|c.101-121A>C|.|intronic GT:DP:AD:DP4 1/1:168:0,168:0,0,95,73 1 16372003 92447365 G C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=253;DER=133;DEA=95;QR=37;QA=36;PBP=10000;PBM=10000;NVF=0.991;TYPE=SNP;DBXREF=dbSNP:rs6604910,g1000:0.5665,esp5400:0.5177,ExAC:0.6240,GnomAD:0.6361;SGVEP=CLCNKB|+|NM_000085|3|c.101-50G>C|.|intronic GT:DP:AD:DP4 1/1:319:3,316:2,1,168,148 1 16372282 92447629 GT G 609 off_target VARTYPE=1;BGN=0.00165642;ARL=225;DER=70;DEA=75;QR=34;QA=33;PBP=309;PBM=310;NVF=0.209;TYPE=INDEL;DBXREF=dbSNP:rs67016480,g1000:0.3594;SGVEP=CLCNKB|+|NM_000085|3|c.229+102delT|.|intronic GT:DP:AD:DP4 0/1:191:151,40:61,90,19,21 1 16372283 92447639 T G 10000 off_target VARTYPE=1;BGN=0.00144957;ARL=223;DEA=72;QA=35;PBP=1867;PBM=2571;NVF=0.778;TYPE=SNP;DBXREF=dbSNP:rs6604911,g1000:0.4585;SGVEP=CLCNKB|+|NM_000085|3|c.229+102T>G|.|intronic GT:DP:AD:DP4 1/1:189:42,147:21,21,58,89 1 16372911 92447782 G A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=261;DEA=78;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs2014848,g1000:0.7398;SGVEP=CLCNKB|+|NM_000085|4|c.230-119G>A|.|intronic GT:DP:AD:DP4 1/1:403:0,403:0,0,239,164 1 16372971 92447792 G A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=258;DER=41;DEA=95;QR=23;QA=36;PBP=10000;PBM=10000;NVF=0.998;TYPE=SNP;DBXREF=dbSNP:rs2014841,g1000:0.7404;SGVEP=CLCNKB|+|NM_000085|4|c.230-59G>A|.|intronic GT:DP:AD:DP4 1/1:609:1,608:0,1,336,272 1 16373124 92447983 A G 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=254;DER=112;DEA=113;QR=27;QA=36;PBP=10000;PBM=10000;NVF=0.995;TYPE=SNP;DBXREF=dbSNP:rs5257,g1000:0.7404,esp5400:0.6711,ExAC:0.8020,GnomAD:0.8123;SGVEP=CLCNKB|+|NM_000085|4|c.324A>G|p.:(p.Ser108Ser)|synonymous GT:DP:AD:DP4 1/1:785:4,781:2,2,382,399 1 16373199 92448080 CCTT C 10000 off_target VARTYPE=1;BGN=0.00123466;ARL=255;DER=6;DEA=100;QR=33;QA=107;PBP=10000;PBM=10000;NVF=0.993;TYPE=INDEL;DBXREF=dbSNP:rs375546236,g1000:0.7234,ExAC:0.7750,GnomAD:0.7864;SGVEP=CLCNKB|+|NM_000085|4|c.358+44_358+46delTCT|.|intronic GT:DP:AD:DP4 1/1:559:4,555:1,3,247,308 1 16373282 92448124 A G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=257;DEA=74;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs2095540,g1000:0.7400;SGVEP=CLCNKB|+|NM_000085|4|c.358+124A>G|.|intronic GT:DP:AD:DP4 1/1:328:0,328:0,0,135,193 1 16374185 92448338 G A 10000 off_target VARTYPE=1;BGN=0.00144957;ARL=287;DER=17;DEA=57;QR=7;QA=35;PBP=2374;PBM=963;TYPE=SNP;DBXREF=dbSNP:rs869704,g1000:0.7404;SGVEP=CLCNKB|+|NM_000085|5|c.359-215G>A|.|intronic GT:DP:AD:DP4 1/1:118:0,118:0,0,84,34 1 16374330 92448373 A G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=269;DEA=96;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs945403,g1000:0.8415;SGVEP=CLCNKB|+|NM_000085|5|c.359-70A>G|.|intronic GT:DP:AD:DP4 1/1:557:0,557:0,0,306,251 1 16374533 92448546 G C 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=261;DEA=116;QA=36;PBP=10000;PBM=10000;NVF=0.999;TYPE=SNP;DBXREF=dbSNP:rs2014562,g1000:0.8940,esp5400:0.8775,ExAC:0.9290,GnomAD:0.9317;SGVEP=CLCNKB|+|NM_000085|5|c.492G>C|p.:(p.Gly164Gly)|synonymous GT:DP:AD:DP4 1/1:738:1,737:0,1,368,369 1 16374622 92448608 C G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=263;DER=95;DEA=103;QR=37;QA=36;PBP=10000;PBM=10000;NVF=0.988;TYPE=SNP;DBXREF=dbSNP:rs2863440,g1000:0.7406;SGVEP=CLCNKB|+|NM_000085|5|c.498+83C>G|.|intronic GT:DP:AD:DP4 1/1:506:6,500:3,3,233,267 1 16374656 92448611 A G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=263;DER=117;DEA=97;QR=29;QA=36;PBP=10000;PBM=10000;NVF=0.996;TYPE=SNP;DBXREF=dbSNP:rs2902490,g1000:0.7402;SGVEP=CLCNKB|+|NM_000085|5|c.498+117A>G|.|intronic GT:DP:AD:DP4 1/1:459:2,457:1,1,221,236 1 16374994 92448892 C T 10000 PASS VARTYPE=1;BGN=0.00144957;ARL=252;DER=64;DEA=125;QR=23;QA=35;PBP=10000;PBM=10000;NVF=0.992;TYPE=SNP;DBXREF=dbSNP:rs34666902,g1000:0.7386,esp5400:0.6677,ExAC:0.8010,clinvar:rs1889788:34666902,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD:0.8106;SGVEP=CLCNKB|+|NM_000085|7|c.577-5C>T|.|intronic GT:DP:AD:DP4 1/1:667:5,662:2,3,338,324 1 16375063 92448979 CA GC 10000 PASS NVF=0.993;TYPE=INDEL;DBXREF=dbSNP:rs71493533;SGVEP=CLCNKB|+|NM_000085|7|c.641_642delCAinsGC|p.Ala214Gly|missense GT:DP:AD:DP4 1/1:583:4,579:2,2,280,299 1 16375210 92449075 G A 10000 off_target VARTYPE=1;BGN=0.00144957;ARL=258;DER=40;DEA=122;QR=9;QA=35;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs9633514,g1000:0.3570;SGVEP=CLCNKB|+|NM_000085|7|c.655+133G>A|.|intronic GT:DP:AD:DP4 1/1:517:0,517:0,0,269,248 1 16375354 92449126 C T 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=251;DER=104;DEA=122;QR=19;QA=36;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs9442227,g1000:0.7274;SGVEP=CLCNKB|+|NM_000085|8|c.656-261C>T|.|intronic GT:DP:AD:DP4 1/1:702:1,701:0,1,379,322 1 16375838 92449564 C G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=253;DEA=101;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs7545067;SGVEP=CLCNKB|+|NM_000085|8|c.781+98C>G|.|intronic GT:DP:AD:DP4 1/1:648:0,648:0,0,301,347 1 16376077 92449600 G C 379 low_variant_fraction;off_target VARTYPE=1;BGN=0.00124934;ARL=261;DER=112;DEA=66;QR=34;QA=37;PBP=209;PBM=178;NVF=0.067;TYPE=SNP;DBXREF=dbSNP:rs202203515,g1000:0.0006,esp5400:0.0007,GnomAD:0.0005;SGVEP=CLCNKB|+|NM_000085|9|c.782-36G>C|.|intronic GT:DP:AD:DP4 0/1:449:419,30:216,203,16,14 1 16376191 92449659 C T 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=256;DER=50;DEA=128;QR=37;QA=36;PBP=10000;PBM=10000;NVF=0.939;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:0.9247;SGVEP=CLCNKB|+|NM_000085|9|c.860C>T|p.Ala287Val|missense GT:DP:AD:DP4 1/1:591:36,555:18,18,277,278 1 16376231 92449702 AA TAT 10000 off_target NVF=0.971;TYPE=INDEL;DBXREF=dbSNP:rs386628876;SGVEP=CLCNKB|+|NM_000085|9|c.866+34_866+35delAAinsTAT|.|intronic GT:DP:AD:DP4 1/1:549:16,533:7,9,280,253 1 16376238 92449740 TCCCCCC TCCCCC 10000 off_target VARTYPE=1;BGN=0.0293829;ARL=259;DER=107;DEA=128;QR=32;QA=35;HL=6;PBP=10000;PBM=10000;NVF=0.971;TYPE=INDEL;DBXREF=dbSNP:rs796211746,g1000:0.8301,GnomAD:0.9174;SGVEP=CLCNKB|+|NM_000085|9|c.866+47delC|.|intronic GT:DP:AD:DP4 1/1:558:16,542:8,8,283,259 1 16376239 . C T 194 low_variant_fraction;off_target VARTYPE=1;BGN=0.00144957;ARL=257;DER=20;DEA=34;QR=33;QA=35;PBP=254;PBM=167;NVF=0.000;TYPE=SNP;SGVEP=CLCNKB|+|NM_000085|9|c.866+42C>T|.|intronic GT:DP:AD:DP4 0/1:554:554,0:289,265,0,0 1 16376278 92449767 G A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=259;DER=71;DEA=125;QR=21;QA=36;PBP=10000;PBM=10000;NVF=0.998;TYPE=SNP;DBXREF=dbSNP:rs7365182,g1000:0.8279,esp5400:0.8108,ExAC:0.9110,GnomAD:0.9211;SGVEP=CLCNKB|+|NM_000085|10|c.867-32G>A|.|intronic GT:DP:AD:DP4 1/1:583:1,582:0,1,295,287 1 16376319 92449810 T C 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=257;DEA=124;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs7368151,g1000:0.8301,esp5400:0.8134,ExAC:0.9110,clinvar:rs7368151,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD:0.9173;SGVEP=CLCNKB|+|NM_000085|10|c.876T>C|p.:(p.Cys292Cys)|synonymous GT:DP:AD:DP4 1/1:655:0,655:0,0,323,332 1 16376458 92449965 T C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=257;DER=36;DEA=89;QR=10;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs7368166,g1000:0.8301,esp5400:0.8020,ExAC:0.9080,GnomAD:0.9137;SGVEP=CLCNKB|+|NM_000085|10|c.968+47T>C|.|intronic GT:DP:AD:DP4 1/1:444:0,444:0,0,208,236 1 16376518 92450017 T TGCCATTATTTTTTCCTGCCCAGACAATGCCCATGCAGTGATCTGGGCCCCCAAGGACCCAGCTTCACCCCCACAGCACC 1498 off_target VARTYPE=1;BGN=0.00123466;ARL=266;DER=40;DEA=120;QR=33;QA=2768;PBP=443;PBM=1082;NVF=1.000;TYPE=INDEL;DBXREF=dbSNP:rs71003232;SGVEP=CLCNKB|+|NM_000085|10|c.968+107_968+108ins79|.|intronic GT:DP:AD:DP4 1/1:261:0,261:0,0,101,160 1 16376831 92450109 C T 2720 off_target VARTYPE=1;BGN=0.00144957;ARL=272;DER=107;DEA=59;QR=25;QA=35;PBP=1989;PBM=737;TYPE=SNP;DBXREF=dbSNP:rs10803412,g1000:0.7426;SGVEP=CLCNKB|+|NM_000085|11|c.969-180C>T|.|intronic GT:DP:AD:DP4 1/1:98:1,97:1,0,71,26 1 16377935 92450746 A G 3191 off_target VARTYPE=1;BGN=0.00133007;ARL=261;DER=99;DEA=105;QR=34;QA=36;PBP=1748;PBM=1469;NVF=0.491;TYPE=SNP;DBXREF=dbSNP:rs6650117,g1000:0.1144,esp5400:0.1585,ExAC:0.1200,GnomAD:0.1140;SGVEP=CLCNKB|+|NM_000085|13|c.1228-38A>G|.|intronic GT:DP:AD:DP4 0/1:328:167,161:86,81,85,76 1 16379008 92451811 C T 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=263;DEA=74;QA=36;PBP=2889;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs2050522,g1000:0.7492;SGVEP=CLCNKB|+|NM_000085|15|c.1622+102C>T|.|intronic GT:DP:AD:DP4 1/1:275:0,275:0,0,113,162 1 16380196 92452248 T C 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=255;DER=56;DEA=119;QR=18;QA=36;PBP=10000;PBM=10000;NVF=0.997;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:0.9354;SGVEP=CLCNKB|+|NM_000085|16|c.1685T>C|p.Met562Thr|missense GT:DP:AD:DP4 1/1:802:2,800:1,1,403,397 1 16380243 92452311 A G 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=259;DEA=129;QA=36;PBP=10000;PBM=10000;NVF=1.000;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:0.6527;SGVEP=CLCNKB|+|NM_000085|16|c.1732A>G|p.Lys578Glu|missense GT:DP:AD:DP4 1/1:824:0,824:0,0,408,416 1 16380252 92452315 C T 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=259;DER=114;DEA=128;QR=10;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs2275167,g1000:0.6136,esp5400:0.6154,ExAC:0.6210,GnomAD:0.6181;SGVEP=CLCNKB|+|NM_000085|16|c.1741C>T|p.:(p.Leu581Leu)|synonymous GT:DP:AD:DP4 1/1:829:0,829:0,0,404,425 1 16380403 92452431 A T 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=274;DER=40;DEA=81;QR=11;QA=36;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs2275168,g1000:0.5248;SGVEP=CLCNKB|+|NM_000085|16|c.1756+136A>T|.|intronic GT:DP:AD:DP4 1/1:343:0,343:0,0,142,201 1 16380488 92452458 G A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=287;DEA=56;QA=36;PBP=1262;PBM=2775;TYPE=SNP;DBXREF=dbSNP:rs7414959,g1000:0.5256;SGVEP=CLCNKB|+|NM_000085|16|c.1756+221G>A|.|intronic GT:DP:AD:DP4 1/1:141:0,141:0,0,44,97 1 16380560 92452492 G A 1234 off_target VARTYPE=1;BGN=0.00133007;ARL=284;DEA=42;QA=36;PBP=86;PBM=1148;TYPE=SNP;DBXREF=dbSNP:rs10803413,g1000:0.4515;SGVEP=CLCNKB|+|NM_000085|16|c.1756+293G>A|.|intronic GT:DP:AD:DP4 1/1:43:0,43:0,0,3,40 1 16380582 92452495 C T 869 low_coverage;off_target VARTYPE=1;BGN=0.00124934;ARL=280;DEA=40;QA=37;PBP=29;PBM=840;TYPE=SNP;DBXREF=dbSNP:rs10803414,g1000:0.4399;SGVEP=CLCNKB|+|NM_000085|16|c.1756+315C>T|.|intronic GT:DP:AD:DP4 1/1:30:0,30:0,0,1,29 1 16381718 92452690 T C 2176 off_target VARTYPE=1;BGN=0.00133007;ARL=289;DEA=47;QA=36;PBP=1663;PBM=517;TYPE=SNP;DBXREF=dbSNP:rs1414498,g1000:0.7212;SGVEP=CLCNKB|+|NM_000085|17|c.1757-212T>C|.|intronic GT:DP:AD:DP4 1/1:76:0,76:0,0,58,18 1 16381722 92452693 C T 2262 off_target VARTYPE=1;BGN=0.00133007;ARL=289;DEA=49;QA=36;PBP=1663;PBM=603;TYPE=SNP;DBXREF=dbSNP:rs12691552,g1000:0.4393;SGVEP=CLCNKB|+|NM_000085|17|c.1757-208C>T|.|intronic GT:DP:AD:DP4 1/1:79:0,79:0,0,58,21 1 16381792 92452706 T A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=271;DEA=63;QA=36;PBP=10000;PBM=2575;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs12047858,g1000:0.4579;SGVEP=CLCNKB|+|NM_000085|17|c.1757-138T>A|.|intronic GT:DP:AD:DP4 1/1:245:0,245:0,0,138,107 1 16381816 92452724 C T 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=265;DEA=77;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs12029508,g1000:0.4579;SGVEP=CLCNKB|+|NM_000085|17|c.1757-114C>T|.|intronic GT:DP:AD:DP4 1/1:290:0,290:0,0,159,131 1 16382086 92452905 C T 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=245;DER=83;DEA=111;QR=19;QA=36;PBP=10000;PBM=10000;NVF=0.996;TYPE=SNP;DBXREF=dbSNP:rs2297727,g1000:0.4587;SGVEP=CLCNKB|+|NM_000085|17|c.1845+68C>T|.|intronic GT:DP:AD:DP4 1/1:572:2,570:1,1,288,282 1 16382505 92453214 T C 1190 off_target VARTYPE=1;BGN=0.00144957;ARL=272;DEA=57;QA=35;PBP=114;PBM=1077;TYPE=SNP;DBXREF=dbSNP:rs12691553,g1000:0.4241;SGVEP=CLCNKB|+|NM_000085|18|c.1929+252T>C|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,4,38 1 16382718 92453292 T C 1720 off_target VARTYPE=1;BGN=0.00133007;ARL=273;DEA=48;QA=36;PBP=1348;PBM=374;TYPE=SNP;DBXREF=dbSNP:rs12048851,g1000:0.4726;SGVEP=CLCNKB|+|NM_000085|19|c.1930-199T>C|.|intronic GT:DP:AD:DP4 1/1:60:0,60:0,0,47,13 1 16382730 92453297 C T 2318 off_target VARTYPE=1;BGN=0.00144957;ARL=272;DEA=48;QA=35;PBP=1641;PBM=680;TYPE=SNP;DBXREF=dbSNP:rs12030469,g1000:0.4565;SGVEP=CLCNKB|+|NM_000085|19|c.1930-187C>T|.|intronic GT:DP:AD:DP4 1/1:82:0,82:0,0,58,24 1 16382791 92453300 G C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=266;DEA=69;QA=36;PBP=2945;PBM=1863;TYPE=SNP;DBXREF=dbSNP:rs12023153,g1000:0.4577;SGVEP=CLCNKB|+|NM_000085|19|c.1930-126G>C|.|intronic GT:DP:AD:DP4 1/1:168:0,168:0,0,103,65 1 16382828 92453344 TCTTCCT ACCA 10000 off_target NVF=1.000;TYPE=INDEL;SGVEP=CLCNKB|+|NM_000085|19|c.1930-89_1930-83delTCTTCCTinsACCA|.|intronic GT:DP:AD:DP4 1/1:221:0,221:0,0,131,90 1 16382877 92453372 A G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=251;DER=29;DEA=113;QR=10;QA=36;PBP=10000;PBM=2889;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs7517792,g1000:0.7841,esp5400:0.7644,ExAC:0.7930,GnomAD:0.7960;SGVEP=CLCNKB|+|NM_000085|19|c.1930-40A>G|.|intronic GT:DP:AD:DP4 1/1:254:0,254:0,0,153,101 1 16383336 92453934 G C 2740 low_variant_fraction;off_target NVF=0.031;TYPE=SNP;DBXREF=dbSNP:rs12746138,g1000:0.7147,esp5400:0.4452,GnomAD:0.7060;SGVEP=CLCNKB|+|NM_000085|20|c.2017-28G>C|.|intronic GT:DP:AD:DP4 0/1:97:94,3:9,85,1,2 1 16383448 92454153 A C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=237;DER=40;DEA=114;QR=24;QA=36;PBP=1291;PBM=10000;NVF=0.989;TYPE=SNP;DBXREF=dbSNP:rs10803415,g1000:0.9010,esp5400:0.9555,ExAC:0.9390,GnomAD:0.9058;SGVEP=CLCNKB|+|NM_000085|20|c.*37A>C|.|3'UTR GT:DP:AD:DP4 1/1:180:2,178:1,1,48,130 1 16383581 92454241 G T 2584 off_target VARTYPE=1;BGN=0.00133007;ARL=271;DER=55;DEA=76;QR=25;QA=36;PBP=846;PBM=1748;TYPE=SNP;DBXREF=dbSNP:rs1057844;SGVEP=CLCNKB|+|NM_000085|20|c.*170G>T|.|3'UTR GT:DP:AD:DP4 1/1:92:1,91:1,0,30,61 1 16383605 92454266 A G 2215 off_target VARTYPE=1;BGN=0.00133007;ARL=274;DER=85;DEA=67;QR=37;QA=36;PBP=732;PBM=1491;TYPE=SNP;DBXREF=dbSNP:rs1057845;SGVEP=CLCNKB|+|NM_000085|20|c.*194A>G|.|3'UTR GT:DP:AD:DP4 1/1:79:1,78:1,0,26,52 1 16383668 92454292 T G 1105 off_target VARTYPE=1;BGN=0.00144957;ARL=284;DER=33;DEA=47;QR=11;QA=35;PBP=312;PBM=794;TYPE=SNP;DBXREF=dbSNP:rs6660218,g1000:1.0000,ExAC:0.9990,GnomAD:0.9999;SGVEP=CLCNKB|+|NM_000085|20|c.*257T>G|.|3'UTR GT:DP:AD:DP4 1/1:39:0,39:0,0,11,28 1 55464743 111445891 T C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=265;DEA=73;QA=36;PBP=10000;PBM=3088;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs2500340,g1000:0.5940,clinvar:rs2500340,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=BSND|+|NM_057176|1|c.-117T>C|.|5'UTR GT:DP:AD:DP4 1/1:317:0,317:0,0,183,134 1 55464790 111445907 C G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=260;DEA=88;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs2500341,g1000:0.5950,clinvar:rs2500341,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=BSND|+|NM_057176|1|c.-70C>G|.|5'UTR GT:DP:AD:DP4 1/1:446:0,446:0,0,247,199 1 55473043 111448067 G A 10000 off_target VARTYPE=1;BGN=0.00144957;ARL=240;DER=86;DEA=78;QR=34;QA=35;PBP=1477;PBM=2616;NVF=0.491;TYPE=SNP;DBXREF=dbSNP:rs6687801,g1000:0.4393;SGVEP=BSND|+|NM_057176|3|c.548+98G>A|.|intronic GT:DP:AD:DP4 0/1:428:218,210:100,118,83,127 1 55474325 111448554 A C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=262;DER=120;DEA=122;QR=34;QA=36;PBP=10000;PBM=10000;NVF=0.508;TYPE=SNP;DBXREF=dbSNP:rs6682884,g1000:0.3624,esp5400:0.4485,ExAC:0.3750,clinvar:rs6682884,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD:0.3658;SGVEP=BSND|+|NM_057176|4|c.*24A>C|.|3'UTR GT:DP:AD:DP4 0/1:701:345,356:164,181,172,184 1 55474476 111448607 C G 2920 off_target VARTYPE=1;BGN=0.00124934;ARL=280;DER=63;DEA=70;QR=35;QA=37;PBP=1029;PBM=1914;TYPE=SNP;DBXREF=dbSNP:rs4339899,g1000:0.4299,clinvar:rs4339899,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=BSND|+|.|.|.|.|intergenic GT:DP:AD:DP4 0/1:260:130,128:49,81,45,83 1 179520108 110685 C T 1252 off_target VARTYPE=1;BGN=0.00124934;ARL=286;DER=53;DEA=53;QR=35;QA=37;PBP=872;PBM=391;TYPE=SNP;DBXREF=dbSNP:rs2274623,g1000:0.1917,clinvar:rs2274623,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=NPHS2|-|NM_014625|8|c.*200G>A|.|3'UTR GT:DP:AD:DP4 0/1:107:53,54:33,20,37,17 1 179520151 110694 C T 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=281;DEA=66;QA=36;PBP=3031;PBM=1844;TYPE=SNP;DBXREF=dbSNP:rs1410590,g1000:0.9052,clinvar:rs1410590,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=NPHS2|-|NM_014625|8|c.*157G>A|.|3'UTR GT:DP:AD:DP4 1/1:172:0,171:0,0,106,65 1 179520254 139783275 C G 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=263;DER=92;DEA=92;QR=35;QA=37;PBP=2741;PBM=2325;NVF=0.485;TYPE=SNP;DBXREF=dbSNP:rs1410591,g1000:0.5879,clinvar:rs1410591,CLNSIG:Likely_benign,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=NPHS2|-|NM_014625|8|c.*54G>C|.|3'UTR GT:DP:AD:DP4 0/1:487:251,236:137,114,126,110 1 179520506 139788894 G A 10000 PASS VARTYPE=1;BGN=0.00124934;ARL=260;DER=127;DEA=127;QR=36;QA=37;PBP=10000;PBM=10000;NVF=0.496;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:0.6197;SGVEP=NPHS2|-|NM_014625|8|c.954C>T|p.:(p.Ala318Ala)|synonymous GT:DP:AD:DP4 0/1:977:492,485:234,258,240,245 1 179520844 139788938 G A 542 off_target VARTYPE=1;BGN=0.00124934;ARL=296;DER=40;DEA=40;QR=36;QA=37;PBP=144;PBM=404;TYPE=SNP;DBXREF=dbSNP:rs2274625,g1000:0.1885;SGVEP=NPHS2|-|NM_014625|8|c.874-258C>T|.|intronic GT:DP:AD:DP4 0/1:55:31,24:6,25,6,18 1 179528917 139789607 G A 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=258;DER=103;DEA=91;QR=35;QA=37;PBP=2319;PBM=2552;NVF=0.516;TYPE=SNP;DBXREF=dbSNP:rs12401708,g1000:0.1334,esp5400:0.2006,ExAC:0.1910,GnomAD:0.2389;SGVEP=NPHS2|-|NM_014625|4|c.452-21C>T|.|intronic GT:DP:AD:DP4 0/1:424:205,219:100,105,105,114 1 179528942 139789619 G A 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=262;DER=87;DEA=79;QR=35;QA=37;PBP=2005;PBM=2200;NVF=0.495;TYPE=SNP;DBXREF=dbSNP:rs12401711,g1000:0.1334,esp5400:0.1937,ExAC:0.1800,GnomAD:0.2381;SGVEP=NPHS2|-|NM_014625|4|c.452-46C>T|.|intronic GT:DP:AD:DP4 0/1:380:192,188:92,100,91,97 1 179544898 139791675 T C 10000 PASS VARTYPE=1;BGN=0.00144957;ARL=235;DER=64;DEA=117;QR=10;QA=35;PBP=10000;PBM=10000;NVF=1.000;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:0.9774;SGVEP=NPHS2|-|NM_014625|1|c.102A>G|p.:(p.Gly34Gly)|synonymous GT:DP:AD:DP4 1/1:760:0,760:0,0,382,378 1 179545050 110809 C A 10000 off_target VARTYPE=1;BGN=0.00144957;ARL=240;DER=97;DEA=94;QR=34;QA=35;PBP=2027;PBM=3055;NVF=0.486;TYPE=SNP;DBXREF=dbSNP:rs12406197,g1000:0.1833,esp5400:0.1917,ExAC:0.1790,clinvar:rs12406197,CLNSIG:Conflicting_interpretations_of_pathogenicity,CLNREVSTAT:criteria_provided|conflicting_interpretations,GnomAD:0.2548;SGVEP=NPHS2|-|NM_014625|1|c.-51G>T|.|5'UTR GT:DP:AD:DP4 0/1:533:274,259:117,157,107,152 1 205117043 143583980 TAAAAAAAAAAA TAAAAAAAAAAAA 229 off_target;homopolymer_region VARTYPE=1;BGN=0.142491;ARL=261;DER=41;DEA=88;QR=34;QA=38;HL=11;PBP=111;PBM=126;TYPE=INDEL;DBXREF=dbSNP:rs767011703,g1000:0.3994;SGVEP=DSTYK|-|NM_015375|13|c.2603-171dupT|.|intronic GT:DP:AD:DP4 0/1:98:41,54:22,19,25,29 1 205130413 143585508 A G 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=262;DEA=126;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs3851294,g1000:0.9611,esp5400:0.9286,ExAC:0.9320,PhyloP:1.2450,SIFT:0.7000,PolyPhen2:0.0000,PolyPhen2_HumDiv:0.0000,LRT:1.0000,MutationTaster:1.0000,GERP:5.2700,clinvar:rs3851294,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter,GnomAD:0.9314;SGVEP=DSTYK|-|NM_015375|7|c.1921T>C|p.Cys641Arg|missense GT:DP:AD:DP4 1/1:763:0,763:0,0,387,376 1 205131057 143585603 C G 119 low_variant_fraction;off_target VARTYPE=1;BGN=0.00133007;ARL=265;DER=76;DEA=35;QR=36;QA=36;PBP=59;PBM=66;SP=1;NVF=0.013;TYPE=SNP;DBXREF=dbSNP:rs72741184;SGVEP=DSTYK|-|NM_015375|6|c.1818+107G>C|.|intronic GT:DP:AD:DP4 0/1:227:224,3:132,92,1,2 1 205131059 143585608 G C 219 low_variant_fraction;off_target VARTYPE=1;BGN=0.00165642;ARL=265;DER=45;DEA=42;QR=32;QA=33;PBP=100;PBM=127;NVF=0.021;TYPE=SNP;DBXREF=dbSNP:rs74139123;SGVEP=DSTYK|-|NM_015375|6|c.1818+105C>G|.|intronic GT:DP:AD:DP4 0/1:233:228,5:133,95,3,2 1 205131059 143585612 G GAC 10000 off_target VARTYPE=1;BGN=0.00123466;ARL=265;DER=45;DEA=81;QR=32;QA=73;PBP=10000;PBM=2193;NVF=0.927;TYPE=INDEL;DBXREF=dbSNP:rs397765306,g1000:0.9283;SGVEP=DSTYK|-|NM_015375|6|c.1818+103_1818+104dupGT|.|intronic GT:DP:AD:DP4 1/1:233:17,216:4,13,132,84 1 205156996 . GGA G 108 low_variant_fraction;off_target VARTYPE=1;BGN=0.00123466;ARL=264;DER=91;DEA=84;QR=35;QA=68;PBP=59;PBM=55;SP=1;NVF=0.067;TYPE=INDEL;SGVEP=DSTYK|-|NM_015375|2|c.266-64_266-63delTC|.|intronic GT:DP:AD:DP4 0/1:541:505,36:227,278,18,18 1 205157100 143587291 T C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=278;DER=26;DEA=60;QR=9;QA=36;PBP=2234;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs10900464,g1000:0.3898;SGVEP=DSTYK|-|NM_015375|2|c.266-166A>G|.|intronic GT:DP:AD:DP4 1/1:210:0,210:0,0,78,132 1 205157108 143587293 A G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=278;DEA=55;QA=36;PBP=1977;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs6593929,g1000:0.8145;SGVEP=DSTYK|-|NM_015375|2|c.266-174T>C|.|intronic GT:DP:AD:DP4 1/1:193:0,193:0,0,69,124 2 71162930 143385996 A G 928 off_target VARTYPE=1;BGN=0.00133007;ARL=260;DER=70;DEA=64;QR=34;QA=36;PBP=894;PBM=44;SP=9;TYPE=SNP;DBXREF=dbSNP:rs55655347,g1000:0.1741;SGVEP=ATP6V1B1|+|.|.|.|.|intergenic GT:DP:AD:DP4 0/1:68:29,39:24,5,37,2 2 71162996 143386000 A G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=251;DEA=70;QA=36;PBP=3230;PBM=1748;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs11685700,g1000:0.5304,clinvar:rs11685700,CLNSIG:Benign,CLNREVSTAT:criteria_provided|single_submitter;SGVEP=ATP6V1B1|+|.|.|.|.|intergenic GT:DP:AD:DP4 1/1:187:0,187:0,0,117,70 2 71163086 130599 T C 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=241;DER=85;DEA=99;QR=35;QA=36;PBP=2290;PBM=2182;NVF=0.558;TYPE=SNP;DBXREF=dbSNP:rs11681642,g1000:0.3688,esp5400:0.4126,ExAC:0.4060,PhyloP:1.8340,SIFT:1.0000,PolyPhen2:0.5990,PolyPhen2_HumDiv:0.8260,LRT:1.0000,MutationTaster:0.0000,GERP:4.9000,clinvar:rs11681642,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD:0.4008;SGVEP=ATP6V1B1|+|NM_001692|1|c.2T>C|p.Met1?|no-start GT:DP:AD:DP4 0/1:362:160,202:89,71,104,98 2 71163173 130603 C T 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=237;DER=110;DEA=116;QR=34;QA=36;PBP=2133;PBM=2143;NVF=0.470;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:0.1850;SGVEP=ATP6V1B1|+|NM_001692|1|c.89C>T|p.Thr30Ile|missense GT:DP:AD:DP4 0/1:445:236,209:108,128,105,104 2 71163225 143386124 C T 10000 off_target VARTYPE=1;BGN=0.00144957;ARL=247;DER=99;DEA=93;QR=35;QA=35;PBP=1453;PBM=2235;NVF=0.501;TYPE=SNP;DBXREF=dbSNP:rs759219,g1000:0.3778,esp5400:0.4207,ExAC:0.4070,GnomAD:0.4004;SGVEP=ATP6V1B1|+|NM_001692|1|c.118+23C>T|.|intronic GT:DP:AD:DP4 0/1:353:176,177:87,89,74,103 2 71163350 143386157 C T 1416 off_target VARTYPE=1;BGN=0.00133007;ARL=268;DER=60;DEA=51;QR=34;QA=36;PBP=450;PBM=977;TYPE=SNP;DBXREF=dbSNP:rs72622609,g1000:0.1458;SGVEP=ATP6V1B1|+|NM_001692|1|c.118+148C>T|.|intronic GT:DP:AD:DP4 0/1:106:46,60:16,30,19,41 2 71187104 130620 G A 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=251;DER=118;DEA=116;QR=35;QA=36;PBP=10000;PBM=10000;NVF=0.510;TYPE=SNP;DBXREF=dbSNP:rs114234874,g1000:0.0290,esp5400:0.0218,ExAC:0.0310,PhyloP:2.3340,SIFT:0.8710,PolyPhen2:0.0140,PolyPhen2_HumDiv:0.0140,LRT:1.0000,MutationTaster:1.0000,GERP:4.4700,clinvar:rs114234874,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD:0.0304;SGVEP=ATP6V1B1|+|NM_001692|6|c.481G>A|p.Glu161Lys|missense GT:DP:AD:DP4 0/1:862:422,440:218,204,221,219 2 166774101 150523378 T C 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=274;DER=101;DEA=62;QR=37;QA=37;PBP=3181;PBM=10000;NVF=0.992;TYPE=SNP;DBXREF=dbSNP:rs3749030,g1000:0.2139;SGVEP=TTC21B|-|NM_024753|14|c.1675-110A>G|.|intronic GT:DP:AD:DP4 1/1:255:2,253:1,1,116,137 2 166786351 150524147 C T 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=268;DER=32;DEA=81;QR=29;QA=36;PBP=10000;PBM=10000;NVF=0.987;TYPE=SNP;DBXREF=dbSNP:rs1560596,g1000:0.2027;SGVEP=TTC21B|-|NM_024753|10|c.1088-94G>A|.|intronic GT:DP:AD:DP4 1/1:309:4,305:1,3,143,162 2 166786973 150524222 A C 1390 off_target VARTYPE=1;BGN=0.00124934;ARL=252;DEA=33;QA=37;PBP=638;PBM=754;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs1560597,g1000:0.9481;SGVEP=TTC21B|-|NM_024753|9|c.895-99T>G|.|intronic GT:DP:AD:DP4 1/1:49:0,49:0,0,23,26 2 166788336 132739 T C 10000 PASS VARTYPE=1;BGN=0.00124934;ARL=258;DER=27;DEA=128;QR=16;QA=37;PBP=10000;PBM=10000;NVF=1.000;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:0.9886;SGVEP=TTC21B|-|NM_024753|8|c.826A>G|p.Thr276Ala|missense GT:DP:AD:DP4 1/1:680:0,680:0,0,342,338 2 166797450 150524811 C A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=267;DER=20;DEA=78;QR=9;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs7592392,g1000:0.6673;SGVEP=TTC21B|-|NM_024753|6|c.710+87G>T|.|intronic GT:DP:AD:DP4 1/1:363:0,363:0,0,195,168 2 166797646 132746 C T 10000 PASS VARTYPE=1;BGN=0.00124934;ARL=261;DEA=120;QA=37;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs1432273,g1000:0.6673,esp5400:0.6029,ExAC:0.6570,PhyloP:0.3110,SIFT:0.9960,PolyPhen2:0.9500,PolyPhen2_HumDiv:0.9920,LRT:0.9990,MutationTaster:1.0000,GERP:2.5200,clinvar:rs1432273,CLNSIG:Benign/Likely_benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD:0.6638;SGVEP=TTC21B|-|NM_024753|6|c.601G>A|p.Val201Met|missense GT:DP:AD:DP4 1/1:646:0,646:0,0,319,327 2 166799596 150524953 T C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=279;DER=44;DEA=77;QR=11;QA=36;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs13000534,g1000:0.9475;SGVEP=TTC21B|-|NM_024753|5|c.552+133A>G|.|intronic GT:DP:AD:DP4 1/1:253:0,253:0,0,139,114 2 166799893 150525004 G A 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=255;DEA=95;QA=37;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs10930190,g1000:0.9964,esp5400:0.9955,ExAC:0.9980,GnomAD:0.9992;SGVEP=TTC21B|-|NM_024753|5|c.430-42C>T|.|intronic GT:DP:AD:DP4 1/1:457:0,457:0,0,219,238 2 166799903 150525007 T C 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=257;DER=96;DEA=84;QR=36;QA=37;PBP=2217;PBM=2617;NVF=0.506;TYPE=SNP;DBXREF=dbSNP:rs188695480,g1000:0.0090,esp5400:0.0148,ExAC:0.0130,GnomAD:0.0162;SGVEP=TTC21B|-|NM_024753|5|c.430-52A>G|.|intronic GT:DP:AD:DP4 0/1:429:212,217:104,108,100,117 2 166801924 150525101 C G 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=276;DEA=69;QA=37;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs6432853,g1000:0.6597;SGVEP=TTC21B|-|NM_024753|4|c.429+110G>C|.|intronic GT:DP:AD:DP4 1/1:304:0,304:0,0,166,138 2 166810053 150525607 C T 10000 off_target VARTYPE=1;BGN=0.00144957;ARL=251;DER=21;DEA=71;QR=9;QA=35;PBP=10000;PBM=2008;TYPE=SNP;DBXREF=dbSNP:rs6716946,g1000:0.9970;SGVEP=TTC21B|-|NM_024753|1|c.21+142G>A|.|intronic GT:DP:AD:DP4 1/1:212:0,212:0,0,141,71 2 166810373 150525664 A G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=243;DEA=61;QA=36;PBP=1548;PBM=3088;TYPE=SNP;DBXREF=dbSNP:rs1347041,g1000:1.0000;SGVEP=TTC21B|-|.|.|.|.|intergenic GT:DP:AD:DP4 1/1:162:0,162:0,0,54,108 2 166810433 150525671 GT G 1924 off_target VARTYPE=1;BGN=0.00144957;ARL=250;DER=44;DEA=51;QR=28;QA=35;PBP=349;PBM=1584;TYPE=INDEL;DBXREF=dbSNP:rs5836068,g1000:0.9970;SGVEP=TTC21B|-|.|.|.|.|intergenic GT:DP:AD:DP4 1/1:77:6,71:2,4,13,58 2 216232978 153053141 C A 1674 off_target VARTYPE=1;BGN=0.00124934;ARL=294;DER=67;DEA=49;QR=33;QA=37;PBP=509;PBM=1171;TYPE=SNP;DBXREF=dbSNP:rs2289200,g1000:0.3409;SGVEP=FN1|-|NM_002026|42|c.6488-228G>T|.|intronic GT:DP:AD:DP4 1/1:61:2,59:1,1,18,41 2 216235089 153053253 C T 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=250;DEA=116;QA=36;PBP=10000;PBM=10000;NVF=1.000;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:1.0000;SGVEP=FN1|-|NM_002026|41|c.6415G>A|p.Val2139Ile|missense GT:DP:AD:DP4 1/1:695:0,695:0,0,360,335 2 216235388 153053304 A G 535 off_target VARTYPE=1;BGN=0.00133007;ARL=239;DER=49;DEA=57;QR=36;QA=36;TYPE=SNP;DBXREF=dbSNP:rs1313044,g1000:0.6210;SGVEP=FN1|-|NM_002026|41|c.6349-233T>C|.|intronic GT:DP:AD:DP4 0/1:45:22,23:0,22,0,23 2 216236532 153053394 G A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=267;DER=21;DEA=52;QR=9;QA=36;PBP=10000;PBM=2034;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs10804241,g1000:0.3307;SGVEP=FN1|-|NM_002026|40|c.6348+100C>T|.|intronic GT:DP:AD:DP4 1/1:204:0,204:0,0,120,84 2 216237929 153053551 A T 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=274;DEA=59;QA=37;PBP=3087;PBM=2455;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs2289199,g1000:0.3343;SGVEP=FN1|-|NM_002026|38|c.5974+116T>A|.|intronic GT:DP:AD:DP4 1/1:197:0,197:0,0,108,89 2 216238320 153053602 A G 1205 off_target VARTYPE=1;BGN=0.00133007;ARL=279;DEA=31;QA=36;PBP=460;PBM=747;TYPE=SNP;DBXREF=dbSNP:rs7349218,g1000:0.3696;SGVEP=FN1|-|NM_002026|38|c.5885-186T>C|.|intronic GT:DP:AD:DP4 1/1:42:0,42:0,0,16,26 2 216240126 153053745 AAC A 10000 off_target VARTYPE=1;BGN=0.00123466;ARL=265;DER=77;DEA=110;QR=33;QA=72;PBP=10000;PBM=10000;NVF=0.998;TYPE=INDEL;DBXREF=dbSNP:rs71044591,g1000:0.3796,ExAC:0.3000,GnomAD:0.3117;SGVEP=FN1|-|NM_002026|37|c.5705-12_5705-11delGT|.|intronic GT:DP:AD:DP4 1/1:636:1,635:0,1,310,325 2 216240584 153053807 T G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=286;DEA=59;QA=36;PBP=1948;PBM=2945;TYPE=SNP;DBXREF=dbSNP:rs6707530,g1000:0.4155;SGVEP=FN1|-|NM_002026|36|c.5615-143A>C|.|intronic GT:DP:AD:DP4 1/1:171:0,171:0,0,68,103 2 216241585 153053906 A T 1763 off_target VARTYPE=1;BGN=0.00133007;ARL=287;DER=37;DEA=37;QR=35;QA=36;PBP=549;PBM=1229;TYPE=SNP;DBXREF=dbSNP:rs16853861,g1000:0.0086;SGVEP=FN1|-|NM_002026|35|c.5438-188T>A|.|intronic GT:DP:AD:DP4 0/1:142:66,76:26,40,24,52 2 216242917 153053985 T A 10000 PASS VARTYPE=1;BGN=0.00124934;ARL=257;DEA=105;QA=37;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs1132741,g1000:0.3247,esp5400:0.1870,ExAC:0.2870,GnomAD:0.3004;SGVEP=FN1|-|NM_002026|34|c.5418A>T|p.:(p.Gly1806Gly)|synonymous GT:DP:AD:DP4 1/1:495:0,495:0,0,256,239 2 216243650 153054040 A G 2584 off_target VARTYPE=1;BGN=0.00133007;ARL=294;DER=45;DEA=43;QR=38;QA=36;PBP=1759;PBM=833;TYPE=SNP;DBXREF=dbSNP:rs2304573,g1000:0.3746;SGVEP=FN1|-|NM_002026|33|c.5349+203T>C|.|intronic GT:DP:AD:DP4 1/1:92:1,91:1,0,62,29 2 216243832 153054052 T C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=263;DEA=108;QA=36;PBP=10000;PBM=10000;NVF=0.998;TYPE=SNP;DBXREF=dbSNP:rs1250204,g1000:0.9375,esp5400:0.9274,ExAC:0.9520,GnomAD:0.9552;SGVEP=FN1|-|NM_002026|33|c.5349+21A>G|.|intronic GT:DP:AD:DP4 1/1:570:1,569:0,1,298,271 2 216244181 153054123 AGTAC A 10000 off_target VARTYPE=1;BGN=0.00123466;ARL=282;DER=5;DEA=77;QR=33;QA=142;PBP=2339;PBM=3017;TYPE=INDEL;DBXREF=dbSNP:rs772033504,g1000:0.7863;SGVEP=FN1|-|NM_002026|33|c.5162-145_5162-142delGTAC|.|intronic GT:DP:AD:DP4 1/1:210:16,193:4,12,83,110 2 216245392 153054183 C T 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=271;DEA=68;QA=37;PBP=10000;PBM=3202;TYPE=SNP;DBXREF=dbSNP:rs3732355,g1000:0.3750;SGVEP=FN1|-|NM_002026|32|c.5161+142G>A|.|intronic GT:DP:AD:DP4 1/1:269:0,269:0,0,158,111 2 216248305 153054434 G T 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=274;DEA=88;QA=36;PBP=10000;PBM=10000;NVF=0.998;TYPE=SNP;DBXREF=dbSNP:rs1250203,g1000:0.8275;SGVEP=FN1|-|NM_002026|30|c.4622-99C>A|.|intronic GT:DP:AD:DP4 1/1:517:1,516:1,0,238,278 2 216248606 153054455 T C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=274;DER=129;DEA=61;QR=17;QA=36;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs13018173,g1000:0.3740;SGVEP=FN1|-|NM_002026|29|c.4621+137A>G|.|intronic GT:DP:AD:DP4 1/1:323:1,322:0,1,187,135 2 216248707 153054462 TAAAA TAA 10000 off_target VARTYPE=1;BGN=0.0246203;ARL=267;DER=139;DEA=107;QR=34;QA=72;HL=4;PBP=10000;PBM=10000;NVF=0.994;TYPE=INDEL;DBXREF=dbSNP:rs796905613,g1000:0.3738,ExAC:0.3020,GnomAD:0.3128;SGVEP=FN1|-|NM_002026|29|c.4621+34_4621+35delTT|.|intronic GT:DP:AD:DP4 1/1:663:4,659:3,1,356,303 2 216249587 153054556 C T 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=262;DEA=101;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs13652,g1000:0.8686,esp5400:0.8435,ExAC:0.8750,GnomAD:0.8800;SGVEP=FN1|-|NM_002026|28|c.4452G>A|p.:(p.Glu1484Glu)|synonymous GT:DP:AD:DP4 1/1:370:0,370:0,0,192,178 2 216249819 153054598 C T 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=278;DEA=54;QA=37;PBP=1880;PBM=2743;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs1250201,g1000:0.9301;SGVEP=FN1|-|NM_002026|28|c.4340-120G>A|.|intronic GT:DP:AD:DP4 1/1:167:0,167:0,0,71,96 2 216251279 153054687 T C 866 off_target VARTYPE=1;BGN=0.00124934;ARL=186;DER=44;DEA=54;QR=36;QA=37;PBP=874;PBM=0;SP=7;TYPE=SNP;DBXREF=dbSNP:rs72942065,g1000:0.0054;SGVEP=FN1|-|NM_002026|27|c.4339+133A>G|.|intronic GT:DP:AD:DP4 0/1:63:27,36:25,2,36,0 2 216251697 153054759 G A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=249;DER=108;DEA=104;QR=34;QA=36;PBP=10000;PBM=10000;NVF=0.991;TYPE=SNP;DBXREF=dbSNP:rs35343655,g1000:0.3736,esp5400:0.2390,ExAC:0.2950,GnomAD:0.3171;SGVEP=FN1|-|NM_002026|27|c.4070-16C>T|.|intronic GT:DP:AD:DP4 1/1:565:5,560:3,2,271,289 2 216252756 153054810 T C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=287;DER=0;DEA=50;QR=21;QA=36;PBP=2148;PBM=1246;TYPE=SNP;DBXREF=dbSNP:rs2888354,g1000:0.3790;SGVEP=FN1|-|NM_002026|26|c.4069+179A>G|.|intronic GT:DP:AD:DP4 1/1:120:1,119:0,1,75,44 2 216256615 153055064 T C 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=269;DEA=78;QA=37;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs6709607,g1000:0.6893;SGVEP=FN1|-|NM_002026|25|c.3797-78A>G|.|intronic GT:DP:AD:DP4 1/1:427:0,427:0,0,194,233 2 216256707 153055068 T C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=282;DEA=47;QA=36;PBP=1891;PBM=2917;TYPE=SNP;DBXREF=dbSNP:rs10804242,g1000:0.6901;SGVEP=FN1|-|NM_002026|25|c.3797-170A>G|.|intronic GT:DP:AD:DP4 1/1:168:0,168:0,0,66,102 2 216262124 153055461 TTC T 10000 off_target VARTYPE=1;BGN=0.00123466;ARL=284;DER=4;DEA=88;QR=29;QA=68;PBP=1681;PBM=1829;TYPE=INDEL;DBXREF=dbSNP:rs144678289,g1000:0.3958;SGVEP=FN1|-|NM_002026|23|c.3518-180_3518-179delGA|.|intronic GT:DP:AD:DP4 1/1:140:13,127:4,9,60,67 2 216262621 153055516 A C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=265;DER=43;DEA=100;QR=8;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs6725958,g1000:0.6542,esp5400:0.5930,ExAC:0.6010,GnomAD:0.6064;SGVEP=FN1|-|NM_002026|22|c.3349-50T>G|.|intronic GT:DP:AD:DP4 1/1:651:0,651:0,0,316,335 2 216262788 153055526 A G 3105 off_target VARTYPE=1;BGN=0.00144957;ARL=287;DEA=43;QA=35;PBP=907;PBM=2205;TYPE=SNP;DBXREF=dbSNP:rs2577297,g1000:0.6178;SGVEP=FN1|-|NM_002026|22|c.3349-217T>C|.|intronic GT:DP:AD:DP4 1/1:110:0,110:0,0,32,78 2 216263926 153055579 C A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=263;DER=136;DEA=95;QR=10;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs2692224,g1000:0.6168,esp5400:0.5526;SGVEP=FN1|-|NM_002026|21|c.3348+54G>T|.|intronic GT:DP:AD:DP4 1/1:346:0,346:0,0,180,166 2 216263938 153055580 CT CTT 10000 off_target VARTYPE=1;BGN=0.00144957;ARL=260;DER=92;DEA=101;QR=11;QA=35;PBP=10000;PBM=10000;NVF=0.995;TYPE=INDEL;DBXREF=dbSNP:rs397708033,g1000:0.6170,ExAC:0.5890,GnomAD:0.5966;SGVEP=FN1|-|NM_002026|21|c.3348+41dupA|.|intronic GT:DP:AD:DP4 1/1:366:2,364:1,1,189,175 2 216268902 153055830 C T 1531 off_target VARTYPE=1;BGN=0.00133007;ARL=278;DER=27;DEA=45;QR=38;QA=36;PBP=1246;PBM=287;TYPE=SNP;DBXREF=dbSNP:rs7575234,g1000:0.3960;SGVEP=FN1|-|NM_002026|20|c.3253+210G>A|.|intronic GT:DP:AD:DP4 1/1:55:1,54:1,0,44,10 2 216269030 435682049 TG T 150 low_variant_fraction;off_target VARTYPE=1;BGN=0.00133007;ARL=247;DER=66;DEA=81;QR=36;QA=36;PBP=91;PBM=66;SP=1;NVF=0.020;TYPE=INDEL;DBXREF=dbSNP:rs1004625238;SGVEP=FN1|-|NM_002026|20|c.3253+81delC|.|intronic GT:DP:AD:DP4 0/1:399:391,8:212,179,3,5 2 216269031 153055844 GTT TTG 10000 off_target NVF=0.862;TYPE=INDEL;DBXREF=dbSNP:rs386655022;SGVEP=FN1|-|NM_002026|20|c.3253+79_3253+81delAACinsCAA|.|intronic GT:DP:AD:DP4 1/1:405:56,349:30,26,190,159 2 216269031 153055845 GTTTT GTT 126 low_variant_fraction;off_target VARTYPE=1;BGN=0.0246203;ARL=247;DER=70;DEA=6;QR=38;QA=65;HL=4;PBP=53;PBM=89;SP=5;NVF=0.025;TYPE=INDEL;DBXREF=dbSNP:rs199752385;SGVEP=FN1|-|NM_002026|20|c.3253+79_3253+80delAA|.|intronic GT:DP:AD:DP4 0/1:407:397,10:213,184,5,5 2 216269031 153055847 GTT TTTG 5216 low_variant_fraction;off_target NVF=0.086;TYPE=INDEL;SGVEP=FN1|-|NM_002026|20|c.3253+79_3253+81delAACinsCAAA|.|intronic GT:DP:AD:DP4 0/1:405:370,35:202,168,18,17 2 216272668 153056192 CCA C 358 low_variant_fraction;off_target VARTYPE=1;BGN=0.00123466;ARL=178;DER=64;DEA=78;QR=34;QA=66;PBP=243;PBM=122;TYPE=INDEL;DBXREF=dbSNP:rs200863159;SGVEP=FN1|-|NM_002026|17|c.2518+161_2518+162delTG|.|intronic GT:DP:AD:DP4 0/1:149:126,21:80,46,14,7 2 216272669 153056193 CA C 1227 off_target VARTYPE=1;BGN=0.00157354;ARL=172;DER=66;DEA=62;QR=35;QA=34;PBP=491;PBM=846;TYPE=INDEL;DBXREF=dbSNP:rs150302454,g1000:0.8480;SGVEP=FN1|-|NM_002026|17|c.2518+161delT|.|intronic GT:DP:AD:DP4 0/1:149:69,59:57,12,25,34 2 216272670 153056194 A C 1414 off_target VARTYPE=1;BGN=0.00133007;ARL=140;DER=58;DEA=67;QR=14;QA=36;PBP=1502;PBM=316;TYPE=SNP;DBXREF=dbSNP:rs55902160,g1000:0.7017;SGVEP=FN1|-|NM_002026|17|c.2518+161T>G|.|intronic GT:DP:AD:DP4 0/1:145:1,64:1,0,53,11 2 216272677 153056204 CCACA C 1338 off_target VARTYPE=1;BGN=0.00123466;ARL=195;DER=32;DEA=57;QR=31;QA=132;PBP=244;PBM=1229;TYPE=INDEL;DBXREF=dbSNP:rs750428334;SGVEP=FN1|-|NM_002026|17|c.2518+150_2518+153delTGTG|.|intronic GT:DP:AD:DP4 0/1:128:55,59:53,2,13,46 2 216272819 153056228 C G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=255;DEA=81;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs7570208,g1000:0.6659,esp5400:0.6095,ExAC:0.6050,GnomAD:0.6086;SGVEP=FN1|-|NM_002026|17|c.2518+12G>C|.|intronic GT:DP:AD:DP4 1/1:529:0,529:0,0,240,289 2 216272900 153056243 T G 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=257;DEA=108;QA=36;PBP=10000;PBM=10000;NVF=1.000;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:1.0000;SGVEP=FN1|-|NM_002026|17|c.2449A>C|p.Thr817Pro|missense GT:DP:AD:DP4 1/1:792:0,792:0,0,381,411 2 216272907 153056245 A T 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=258;DER=108;DEA=111;QR=11;QA=36;PBP=10000;PBM=10000;NVF=0.998;TYPE=SNP;DBXREF=dbSNP:rs7596677,g1000:0.4215,esp5400:0.2503,ExAC:0.3390,GnomAD:0.3523;SGVEP=FN1|-|NM_002026|17|c.2442T>A|p.:(p.Pro814Pro)|synonymous GT:DP:AD:DP4 1/1:805:2,803:1,1,388,415 2 216273295 153056304 A G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=278;DER=72;DEA=75;QR=36;QA=36;PBP=1479;PBM=1869;TYPE=SNP;DBXREF=dbSNP:rs545571873,g1000:0.0002;SGVEP=FN1|-|NM_002026|16|c.2300-146T>C|.|intronic GT:DP:AD:DP4 0/1:276:131,145:58,73,64,81 2 216274853 153056472 AAC A 10000 off_target VARTYPE=1;BGN=0.00123466;ARL=260;DER=46;DEA=129;QR=33;QA=71;PBP=10000;PBM=10000;NVF=0.790;TYPE=INDEL;DBXREF=dbSNP:rs796781337,g1000:0.3940,ExAC:0.2420,GnomAD:0.2869;SGVEP=FN1|-|NM_002026|14|c.1942-18_1942-17delGT|.|intronic GT:DP:AD:DP4 1/1:543:114,429:62,52,195,234 2 216274853 153056473 AACAC A 636 low_variant_fraction;off_target VARTYPE=1;BGN=0.00123466;ARL=260;DER=46;DEA=122;QR=33;QA=145;PBP=299;PBM=348;NVF=0.145;TYPE=INDEL;DBXREF=dbSNP:rs537435608,g1000:0.0012,ExAC:0.0057,GnomAD:0.0023;SGVEP=FN1|-|NM_002026|14|c.1942-20_1942-17delGTGT|.|intronic GT:DP:AD:DP4 0/1:543:464,79:215,249,41,38 2 216283958 153056948 T A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=267;DER=96;DEA=118;QR=34;QA=36;PBP=10000;PBM=10000;NVF=0.997;TYPE=SNP;DBXREF=dbSNP:rs3796123,g1000:0.4115,esp5400:0.2338,ExAC:0.3200,GnomAD:0.3341;SGVEP=FN1|-|NM_002026|12|c.1819+7A>T|.|intronic GT:DP:AD:DP4 1/1:766:2,764:1,1,399,365 2 216284284 153056994 TAAAAAAAAAA TAAAAAAAAA 825 off_target;homopolymer_region VARTYPE=1;BGN=0.0804462;ARL=276;DER=16;DEA=52;QR=34;QA=37;HL=10;PBP=316;PBM=521;TYPE=INDEL;DBXREF=dbSNP:rs78640793,g1000:0.4097;SGVEP=FN1|-|NM_002026|12|c.1676-177delT|.|intronic GT:DP:AD:DP4 0/1:148:42,106:16,26,41,65 2 216284294 260762730 A C 371 low_variant_fraction;off_target VARTYPE=1;BGN=0.00157354;ARL=276;DER=44;DEA=0;QR=35;QA=34;PBP=159;PBM=220;TYPE=SNP;DBXREF=dbSNP:rs898183029;SGVEP=FN1|-|NM_002026|12|c.1676-186T>G|.|intronic GT:DP:AD:DP4 0/1:129:107,22:40,67,9,13 2 216287093 153057233 A G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=272;DER=9;DEA=71;QR=38;QA=36;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs1250248,g1000:0.7833;SGVEP=FN1|-|NM_002026|10|c.1394-127T>C|.|intronic GT:DP:AD:DP4 1/1:344:2,342:1,1,145,197 2 216287903 153057284 TCA T 839 off_target VARTYPE=1;BGN=0.00123466;ARL=258;DER=47;DEA=43;QR=33;QA=66;PBP=594;PBM=256;TYPE=INDEL;DBXREF=dbSNP:rs796448050,g1000:0.4561;SGVEP=FN1|-|NM_002026|9|c.1393+168_1393+169delTG|.|intronic GT:DP:AD:DP4 0/1:82:34,37:24,10,26,11 2 216288472 153057350 ACCCCCCCC ACCCCCCCCC 573 off_target VARTYPE=1;BGN=0.0392976;ARL=279;DER=10;DEA=74;QR=28;QA=36;HL=8;PBP=129;PBM=463;TYPE=INDEL;DBXREF=dbSNP:rs398105320;SGVEP=FN1|-|NM_002026|9|c.1217-224dupG|.|intronic GT:DP:AD:DP4 0/1:76:23,50:12,11,14,36 2 216290147 153057511 T A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=276;DER=57;DEA=74;QR=38;QA=36;PBP=2471;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs2577289,g1000:0.4203;SGVEP=FN1|-|NM_002026|7|c.845-139A>T|.|intronic GT:DP:AD:DP4 1/1:224:4,220:1,3,87,133 2 216295312 153057816 T A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=276;DEA=78;QA=36;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs1250241,g1000:0.7949;SGVEP=FN1|-|NM_002026|5|c.685+126A>T|.|intronic GT:DP:AD:DP4 1/1:319:0,319:0,0,185,134 2 216297796 153058004 G C 1863 off_target VARTYPE=1;BGN=0.00133007;ARL=293;DEA=48;QA=36;PBP=1463;PBM=402;TYPE=SNP;DBXREF=dbSNP:rs1250244,g1000:0.7718;SGVEP=FN1|-|NM_002026|3|c.415+251C>G|.|intronic GT:DP:AD:DP4 1/1:65:0,65:0,0,51,14 2 216299281 153058146 A C 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=275;DER=115;DEA=69;QR=32;QA=36;PBP=10000;PBM=10000;TYPE=SNP;DBXREF=dbSNP:rs1250246,g1000:0.5683;SGVEP=FN1|-|NM_002026|2|c.277+138T>G|.|intronic GT:DP:AD:DP4 1/1:288:3,285:2,1,160,125 2 216299550 153058185 GC AA 10000 PASS NVF=0.993;TYPE=INDEL;DBXREF=dbSNP:rs34732447;SGVEP=FN1|-|NM_002026|2|c.149-4_149-3delGCinsTT|.|intronic GT:DP:AD:DP4 1/1:677:5,672:3,2,324,348 2 216299571 153058192 T TTAC 10000 off_target VARTYPE=1;BGN=0.00123466;ARL=264;DER=12;DEA=97;QR=32;QA=109;PBP=10000;PBM=10000;NVF=0.986;TYPE=INDEL;DBXREF=dbSNP:rs397752826,g1000:0.5689,GnomAD:0.5119;SGVEP=FN1|-|NM_002026|2|c.149-27_149-25dupGTA|.|intronic GT:DP:AD:DP4 1/1:624:9,615:7,2,287,328 2 216299629 153058201 C G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=269;DER=67;DEA=66;QR=11;QA=36;PBP=10000;PBM=10000;NVF=1.000;TYPE=SNP;DBXREF=dbSNP:rs1250247,g1000:0.7925;SGVEP=FN1|-|NM_002026|2|c.149-82G>C|.|intronic GT:DP:AD:DP4 1/1:414:0,414:0,0,189,225 2 216300185 153058220 C T 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=273;DEA=61;QA=36;PBP=10000;PBM=1777;TYPE=SNP;DBXREF=dbSNP:rs1250258,g1000:0.7927;SGVEP=FN1|-|NM_002026|1|c.148+193G>A|.|intronic GT:DP:AD:DP4 1/1:189:0,189:0,0,127,62 2 216300482 153058265 T A 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=248;DEA=122;QA=36;PBP=10000;PBM=10000;NVF=1.000;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:0.7565;SGVEP=FN1|-|NM_002026|1|c.44A>T|p.Gln15Leu|missense GT:DP:AD:DP4 1/1:853:0,853:0,0,444,409 2 227872182 153685408 G A 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=260;DER=126;DEA=126;QR=35;QA=36;PBP=10000;PBM=10000;NVF=0.523;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:0.4679;SGVEP=COL4A4|-|NM_000092|48|c.4932C>T|p.:(p.Phe1644Phe)|synonymous GT:DP:AD:DP4 0/1:988:471,517:232,239,261,256 2 227872617 153685460 A G 10000 off_target VARTYPE=1;BGN=0.00144957;ARL=271;DER=87;DEA=77;QR=35;QA=35;PBP=2301;PBM=1808;NVF=0.509;TYPE=SNP;DBXREF=dbSNP:rs9288618,g1000:0.5411;SGVEP=COL4A4|-|NM_000092|47|c.4809+117T>C|.|intronic GT:DP:AD:DP4 0/1:381:187,194:106,81,107,87 2 227872995 153685536 T C 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=257;DER=114;DEA=114;QR=35;QA=36;PBP=10000;PBM=10000;NVF=0.487;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:0.5580;SGVEP=COL4A4|-|NM_000092|47|c.4548A>G|p.:(p.Val1516Val)|synonymous GT:DP:AD:DP4 0/1:833:427,406:201,226,187,219 2 227873028 153685544 A G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=257;DER=104;DEA=105;QR=35;QA=36;PBP=10000;PBM=10000;NVF=0.490;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:0.4674;SGVEP=COL4A4|-|NM_000092|47|c.4523-8T>C|.|intronic GT:DP:AD:DP4 0/1:741:378,363:175,203,159,204 2 227874957 153685651 C T 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=268;DER=62;DEA=79;QR=35;QA=36;PBP=2530;PBM=2033;NVF=0.548;TYPE=SNP;DBXREF=dbSNP:rs4423583,g1000:0.5166;SGVEP=COL4A4|-|NM_000092|46|c.4522+72G>A|.|intronic GT:DP:AD:DP4 0/1:376:170,206:102,68,113,93 2 227875360 153685712 G A 2321 off_target VARTYPE=1;BGN=0.00133007;ARL=276;DER=76;DEA=57;QR=35;QA=36;PBP=895;PBM=1444;TYPE=SNP;DBXREF=dbSNP:rs10182307,g1000:0.5164;SGVEP=COL4A4|-|NM_000092|46|c.4334-143C>T|.|intronic GT:DP:AD:DP4 0/1:193:92,101:39,53,39,62 2 227875369 153685713 T A 2029 off_target VARTYPE=1;BGN=0.00144957;ARL=277;DER=69;DEA=57;QR=34;QA=35;PBP=744;PBM=1300;TYPE=SNP;DBXREF=dbSNP:rs10194663,g1000:0.5162;SGVEP=COL4A4|-|NM_000092|46|c.4334-152A>T|.|intronic GT:DP:AD:DP4 0/1:175:85,90:34,51,33,57 2 227877037 153685840 G A 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=266;DER=106;DEA=106;QR=35;QA=36;PBP=1881;PBM=2251;NVF=0.460;TYPE=SNP;DBXREF=dbSNP:rs10188770,g1000:0.5206,esp5400:0.4646,ExAC:0.4760,GnomAD:0.4783;SGVEP=COL4A4|-|NM_000092|45|c.4217-24C>T|.|intronic GT:DP:AD:DP4 0/1:428:231,197:111,120,92,105 2 227886773 153686381 A G 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=252;DER=105;DEA=108;QR=35;QA=36;PBP=10000;PBM=10000;NVF=0.522;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:0.4778;SGVEP=COL4A4|-|NM_000092|44|c.4207T>C|p.Ser1403Pro|missense GT:DP:AD:DP4 0/1:623:298,325:159,139,170,155 2 227886925 153686420 C T 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=262;DER=120;DEA=118;QR=36;QA=36;PBP=10000;PBM=10000;NVF=0.477;TYPE=SNP;DBXREF=dbSNP:rs3752896,g1000:0.4485,esp5400:0.4024,ExAC:0.4540,GnomAD:0.4607;SGVEP=COL4A4|-|NM_000092|44|c.4091-36G>A|.|intronic GT:DP:AD:DP4 0/1:689:360,329:179,181,164,165 2 227892619 153686753 C T 10000 PASS VARTYPE=1;BGN=0.00124934;ARL=252;DER=93;DEA=98;QR=36;QA=37;PBP=1931;PBM=1583;NVF=0.448;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:0.4723;SGVEP=COL4A4|-|NM_000092|42|c.4080G>A|p.:(p.Pro1360Pro)|synonymous GT:DP:AD:DP4 0/1:362:200,162:104,96,86,76 2 227892720 141376 C T 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=253;DER=115;DEA=100;QR=36;QA=36;PBP=1755;PBM=1690;NVF=0.416;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:0.4705;SGVEP=COL4A4|-|NM_000092|42|c.3979G>A|p.Val1327Met|missense GT:DP:AD:DP4 0/1:401:234,167:116,118,83,84 2 227895125 153686871 A G 10000 off_target VARTYPE=1;BGN=0.00124934;ARL=259;DER=93;DEA=87;QR=36;QA=37;PBP=2831;PBM=2251;NVF=0.440;TYPE=SNP;DBXREF=dbSNP:rs1917127,g1000:0.4966,esp5400:0.4444,ExAC:0.4720,GnomAD:0.4751;SGVEP=COL4A4|-|NM_000092|41|c.3973+34T>C|.|intronic GT:DP:AD:DP4 0/1:541:303,238:159,144,129,109 2 227896652 153686991 C G 10000 off_target VARTYPE=1;BGN=0.00133007;ARL=259;DER=88;DEA=92;QR=34;QA=36;PBP=10000;PBM=2744;NVF=0.545;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:0.4739;SGVEP=COL4A4|-|NM_000092|40|c.3817+9G>C|.|intronic GT:DP:AD:DP4 0/1:508:231,277:120,111,150,127 2 227896886 153687036 C T 10000 PASS VARTYPE=1;BGN=0.00133007;ARL=259;DER=129;DEA=119;QR=36;QA=36;PBP=10000;PBM=10000;NVF=0.517;TYPE=SNP;DBXREF=dbSNP:rs2229812,g1000:0.4956,esp5400:0.4417,ExAC:0.4710,clinvar:rs2229812,CLNSIG:Benign,CLNREVSTAT:criteria_provided|multiple_submitters|no_conflicts,GnomAD:0.4743;SGVEP=COL4A4|-|NM_000092|39|c.3684G>A|p.:(p.Lys1228Lys)|synonymous GT:DP:AD:DP4 0/1:907:438,469:218,220,228,241 2 227896976 153687061 C T 10000 PASS VARTYPE=1;BGN=0.00124934;ARL=258;DER=116;DEA=109;QR=35;QA=37;PBP=10000;PBM=10000;NVF=0.488;TYPE=SNP;DBXREF=dbSNP:rs102033