##fileformat=VCFv4.2 ##SnpEffVersion="4.3r (build 2017-09-06 16:41), by Pablo Cingolani" ##SnpEffCmd="SnpEff GRCh38.p7.RefSeq /var/runs/2018-01-29_21-14-19_GM1__MTgzNDgyMz/germline-variants-all.vcf " ##INFO= ##INFO= ##INFO= ##FILTER= ##samtoolsVersion=1.6+htslib-1.6 ##samtoolsCommand=samtools mpileup -v -u -B -t DP -f /var/references/ucsc/180092/hg38/sequences/full.fa /var/runs/2018-01-29_21-14-19_GM1__MTgzNDgyMz/mapped-sorted-mkdup.bam ##reference=file:///var/references/ucsc/180092/hg38/sequences/full.fa ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##ALT= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##FORMAT= ##FORMAT= ##FORMAT= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##bcftools_callVersion=1.6+htslib-1.6 ##bcftools_callCommand=call -c -v -; Date=Mon Jan 29 22:33:02 2018 ##SnpSiftVersion="SnpSift 4.3r (build 2017-09-06 16:41), by Pablo Cingolani" ##SnpSiftCmd="" ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO=SubSNP->Batch.link_out"> ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO=5% minor allele frequency in each and all populations"> ##INFO== 1% and for which 2 or more founders contribute to that minor allele frequency."> ##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=5% minor allele frequency in 1+ populations"> ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##source_20180319.1=vcf-merge(v0.1.14-12-gcdb80b8) germline-variants-all-fx.vcf.gz germline-variants-all-dbsnp.vcf.gz ##sourceFiles_20180319.1=0:germline-variants-all-fx.vcf.gz,1:germline-variants-all-dbsnp.vcf.gz ##INFO= ##INFO= ##INFO= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT /var/runs/2018-01-29_21-14-19_GM1__MTgzNDgyMz/mapped-sorted-mkdup.bam germline-variants-all-dbsnp_/var/runs/2018-01-29_21-14-19_GM1__MTgzNDgyMz/mapped-sorted-mkdup.bam chr21 9810748 . TACACACACA TACACACA 151.49 . AC1=2;AC=4;AF1=1;AN=4;ANN=TACACACA|intron_variant|MODIFIER|MGC39584|MGC39584|transcript|NR_038377.1|lincRNA|1/5|n.177-2396_177-2395delTG||||||;DP4=0,0,6,10;DP=20;FQ=-58.5253;IDV=9;IMF=0.9;INDEL;MQ0F=0;MQ=37;MQSB=0.600535;SF=0,1;SGB=-0.651104;VDB=0.107308 GT:DP:PL 1/1:8:192,24,0 1/1:8:192,24,0 chr21 10467255 . AGGCTGGCT AGGCT 93.72 . AC1=2;AC=4;AF1=1;AN=4;ANN=AGGCT|intron_variant|MODIFIER|BAGE2|BAGE2|transcript|NM_182482.2|protein_coding|5/9|c.*236+2284_*236+2287delGGCT||||||,AGGCT|intron_variant|MODIFIER|LOC105378260|LOC105378260|transcript|XM_017028520.1|protein_coding|2/7|c.-508+2284_-508+2287delGGCT||||||,AGGCT|intron_variant|MODIFIER|LOC105378260|LOC105378260|transcript|XM_017028521.1|protein_coding|2/8|c.-508+2284_-508+2287delGGCT||||||,AGGCT|intron_variant|MODIFIER|LOC105378260|LOC105378260|transcript|XR_001754956.1|pseudogene|2/10|n.225+2284_225+2287delGGCT||||||;DP4=0,0,4,6;DP=10;FQ=-49.5252;IDV=5;IMF=1;INDEL;MQ0F=0;MQ=44;MQSB=0.166667;SF=0,1;SGB=-0.590765;VDB=0.104078 GT:DP:PL 1/1:5:134,15,0 1/1:5:134,15,0 chr21 10491292 . CT CTT 217.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=CTT|frameshift_variant|HIGH|LOC105378260|LOC105378260|transcript|XM_017028520.1|protein_coding|6/8|c.480dupT|p.Met161fs|1213/1449|481/699|161/232||,CTT|frameshift_variant|HIGH|LOC105378260|LOC105378260|transcript|XM_017028521.1|protein_coding|6/9|c.480dupT|p.Met161fs|1213/1523|481/675|161/224||,CTT|3_prime_UTR_variant|MODIFIER|BAGE2|BAGE2|transcript|NM_182482.2|protein_coding|9/10|c.*1223dupT|||||28408|,CTT|non_coding_transcript_exon_variant|MODIFIER|LOC105378260|LOC105378260|transcript|XR_001754956.1|pseudogene|6/11|n.1212dupT||||||;DP4=122,36,74,30;DP=396;FQ=217.468;IDV=73;IMF=0.368687;INDEL;LOF=(LOC105378260|LOC105378260|3|0.67);MQ0F=0;MQ=49;MQSB=0.0376687;PV4=0.537688,1,1,1;SF=0,1;SGB=-0.693147;VDB=0.00550066 GT:PL:DP 0/1:255,0,255:131 0/1:255,0,255:131 chr21 10516462 rs76206987 T TC 31.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=TC|downstream_gene_variant|MODIFIER|LOC105378260|LOC105378260|transcript|XM_017028520.1|protein_coding||c.*2281_*2282insC|||||2264|,TC|downstream_gene_variant|MODIFIER|LOC105378260|LOC105378260|transcript|XR_001754956.1|pseudogene||n.*2253_*2254insC|||||2254|,TC|intergenic_region|MODIFIER|LOC105378260-TPTE|LOC105378260-TPTE|intergenic_region|LOC105378260-TPTE|||n.10516462_10516463insC||||||;ASP;DP4=0,0,10,30;DP=48;FQ=-94.5257;IDV=17;IMF=0.708333;INDEL;MQ0F=0;MQ=60;MQSB=1;RS=76206987;RSPOS=10516462;RV;SAO=0;SF=0,1;SGB=-0.692067;SSR=0;VC=DIV;VDB=0.760952;VP=0x050000000005000002000200;WGT=1;dbSNPBuildID=131 GT:DP:PL 1/1:20:72,60,0 1/1:20:72,60,0 chr21 10567621 . CTCTTCTT CTCTT 115.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=CTCTT|intron_variant|MODIFIER|TPTE|TPTE|transcript|NM_199261.3|protein_coding|10/23|c.447-44_447-42delCTT||||||,CTCTT|intron_variant|MODIFIER|TPTE|TPTE|transcript|NM_001290224.1|protein_coding|5/18|c.33-44_33-42delCTT||||||,CTCTT|intron_variant|MODIFIER|TPTE|TPTE|transcript|NM_199259.3|protein_coding|9/22|c.393-44_393-42delCTT||||||,CTCTT|intron_variant|MODIFIER|TPTE|TPTE|transcript|NM_199260.3|protein_coding|8/21|c.333-44_333-42delCTT||||||;DP4=14,4,8,0;DP=28;FQ=118.477;IDV=4;IMF=0.285714;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=1,0.00028339,1,1;SF=0,1;SGB=-0.556411;VDB=0.566702 GT:PL:DP 0/1:153,0,255:13 0/1:153,0,255:13 chr21 10569526 . TAAGAAG TAAG 215.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=TAAG|disruptive_inframe_deletion|MODERATE|TPTE|TPTE|transcript|NM_199261.3|protein_coding|12/24|c.660_662delAAG|p.Arg221del|1051/2765|660/1656|220/551||,TAAG|disruptive_inframe_deletion|MODERATE|TPTE|TPTE|transcript|NM_001290224.1|protein_coding|7/19|c.246_248delAAG|p.Arg83del|775/2489|246/1242|82/413||,TAAG|disruptive_inframe_deletion|MODERATE|TPTE|TPTE|transcript|NM_199259.3|protein_coding|11/23|c.606_608delAAG|p.Arg203del|997/2711|606/1602|202/533||,TAAG|disruptive_inframe_deletion|MODERATE|TPTE|TPTE|transcript|NM_199260.3|protein_coding|10/22|c.546_548delAAG|p.Arg183del|937/2651|546/1542|182/513||;DP4=100,50,26,6;DP=262;FQ=216.354;IDV=21;IMF=0.160305;INDEL;MQ0F=0;MQ=60;MQSB=0.863519;PV4=0.373019,0.291919,1,0.452127;SF=0,1;SGB=-0.689466;VDB=0.0338572 GT:DP:PL 0/1:91:253,0,255 0/1:91:253,0,255 chr21 13384774 . GTTTTTT GTTTTTTT 101.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=GTTTTTTT|intragenic_variant|MODIFIER|ANKRD30BP1|ANKRD30BP1|gene_variant|ANKRD30BP1|||n.13384780dupT||||||;DP4=12,2,74,54;DP=202;FQ=-153.526;IDV=82;IMF=0.811881;INDEL;MQ0F=0.029703;MQ=37;MQSB=0.1572;PV4=0.232392,1,1,1;SF=0,1;SGB=-0.693147;VDB=0.00237984 GT:DP:PL 1/1:71:142,119,0 1/1:71:142,119,0 chr21 13399006 . TCC TC 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=TC|intragenic_variant|MODIFIER|ANKRD30BP1|ANKRD30BP1|gene_variant|ANKRD30BP1|||n.13399008delC||||||;DP4=44,4,120,118;DP=408;FQ=-174.527;IDV=152;IMF=0.745098;INDEL;MQ0F=0.294118;MQ=45;MQSB=0.0102547;PV4=0.000174555,5.27738e-06,1,0.063899;SF=0,1;SGB=-0.693147;VDB=0.0855702 GT:PL:DP 1/1:255,140,0:143 1/1:255,140,0:143 chr21 17594406 . GACAAACAAA GACAAA 49.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=GACAAA|3_prime_UTR_variant|MODIFIER|CXADR|CXADR|transcript|XM_011529477.2|protein_coding|6/6|c.*1179_*1182delCAAA|||||1179|,GACAAA|downstream_gene_variant|MODIFIER|CXADR|CXADR|transcript|NM_001207066.1|protein_coding||c.*1219_*1222delCAAA|||||833|,GACAAA|intron_variant|MODIFIER|BTG3|BTG3|transcript|XM_011529441.1|protein_coding|6/6|c.682-83_682-80delTTTG||||||,GACAAA|intron_variant|MODIFIER|CXADR|CXADR|transcript|XM_011529479.1|protein_coding|5/5|c.755+28801_755+28804delCAAA||||||,GACAAA|intron_variant|MODIFIER|CXADR|CXADR|transcript|XM_011529476.2|protein_coding|7/7|c.1017+28801_1017+28804delCAAA||||||,GACAAA|intron_variant|MODIFIER|CXADR|CXADR|transcript|XM_011529478.2|protein_coding|5/5|c.755+28801_755+28804delCAAA||||||,GACAAA|intron_variant|MODIFIER|CXADR|CXADR|transcript|XR_001754814.1|pseudogene|7/8|n.1131+28801_1131+28804delCAAA||||||,GACAAA|intron_variant|MODIFIER|BTG3|BTG3|transcript|NM_001130914.1|protein_coding|5/5|c.652-83_652-80delTTTG||||||,GACAAA|intron_variant|MODIFIER|BTG3|BTG3|transcript|NM_006806.4|protein_coding|4/4|c.520-83_520-80delTTTG||||||,GACAAA|intron_variant|MODIFIER|BTG3|BTG3|transcript|XM_017028265.1|protein_coding|5/5|c.520-83_520-80delTTTG||||||,GACAAA|intron_variant|MODIFIER|BTG3|BTG3|transcript|XM_017028266.1|protein_coding|5/5|c.520-83_520-80delTTTG||||||;DP4=4,8,0,4;DP=26;FQ=52.4762;IDV=2;IMF=0.153846;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=1,0.33844,1,1;SF=0,1;SGB=-0.453602;VDB=0.146847 GT:DP:PL 0/1:8:87,0,255 0/1:8:87,0,255 chr21 18372098 . ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 46.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|TMPRSS15|TMPRSS15|transcript|XM_011529654.1|protein_coding|8/26|c.799+54_799+57delACAC||||||,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|TMPRSS15|TMPRSS15|transcript|XM_011529659.1|protein_coding|7/25|c.709+54_709+57delACAC||||||,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|TMPRSS15|TMPRSS15|transcript|XM_011529657.1|protein_coding|7/25|c.754+54_754+57delACAC||||||,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|TMPRSS15|TMPRSS15|transcript|XM_011529658.1|protein_coding|6/24|c.718+54_718+57delACAC||||||,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|TMPRSS15|TMPRSS15|transcript|XM_011529656.2|protein_coding|9/27|c.799+54_799+57delACAC||||||,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|TMPRSS15|TMPRSS15|transcript|XM_011529655.1|protein_coding|9/27|c.799+54_799+57delACAC||||||,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|TMPRSS15|TMPRSS15|transcript|NM_002772.2|protein_coding|6/24|c.664+54_664+57delACAC||||||;DP4=12,0,10,0;DP=36;FQ=49.4762;IDV=5;IMF=0.277778;INDEL;MQ0F=0;MQ=60;PV4=1,1,1,1;SF=0,1;SGB=-0.590765;VDB=7.79487e-05 GT:PL:DP 0/1:84,0,167:11 0/1:84,0,167:11 chr21 21286224 . TTTTGTGATTTGTGATTTGTGATTTGT TTTTGTGATTTGTGATTTGT 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=TTTTGTGATTTGTGATTTGT|sequence_feature|LOW|NCAM2|NCAM2|domain:Ig-like_C2-type_2|NM_004540.3|protein_coding|3/17|c.338-25_338-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|upstream_gene_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529585.2|protein_coding||c.-5871_-5865delGATTTGT|||||3836|,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529575.2|protein_coding|4/18|c.413-25_413-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|NM_004540.3|protein_coding|3/17|c.338-25_338-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028353.1|protein_coding|4/18|c.413-25_413-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028355.1|protein_coding|3/15|c.338-25_338-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028354.1|protein_coding|3/15|c.338-25_338-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529579.2|protein_coding|3/17|c.338-25_338-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529576.2|protein_coding|4/18|c.413-25_413-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028356.1|protein_coding|3/17|c.-167-25_-167-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028357.1|protein_coding|3/17|c.-167-25_-167-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028358.1|protein_coding|4/10|c.413-25_413-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529580.2|protein_coding|4/16|c.413-25_413-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529581.2|protein_coding|4/16|c.413-25_413-19delGATTTGT||||||,TTTTGTGATTTGTGATTTGT|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529582.2|protein_coding|4/16|c.413-25_413-19delGATTTGT||||||;DP4=0,0,58,8;DP=86;FQ=-133.526;IDV=38;IMF=0.883721;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.693127;VDB=2.34723e-06 GT:PL:DP 1/1:255,99,0:33 1/1:255,99,0:33 chr21 21324561 . TGGGG TGGG 47.72 . AC1=2;AC=4;AF1=1;AN=4;ANN=TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529575.2|protein_coding|7/18|c.812+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|NM_004540.3|protein_coding|6/17|c.737+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028353.1|protein_coding|7/18|c.812+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028355.1|protein_coding|6/15|c.737+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028354.1|protein_coding|6/15|c.737+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529579.2|protein_coding|6/17|c.737+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529576.2|protein_coding|7/18|c.812+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028356.1|protein_coding|6/17|c.245+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028357.1|protein_coding|6/17|c.245+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_017028358.1|protein_coding|7/10|c.812+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529580.2|protein_coding|7/16|c.812+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529581.2|protein_coding|7/16|c.812+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529582.2|protein_coding|7/16|c.812+65delG||||||,TGGG|intron_variant|MODIFIER|NCAM2|NCAM2|transcript|XM_011529585.2|protein_coding|3/14|c.245+65delG||||||;DP4=0,0,2,8;DP=12;FQ=-49.5252;IDV=6;IMF=1;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.590765;VDB=0.00744022 GT:PL:DP 1/1:88,15,0:5 1/1:88,15,0:5 chr21 25601351 rs79617337 ATATA ATATACTTATA 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=ATATACTTATA|intron_variant|MODIFIER|MRPL39|MRPL39|transcript|NM_080794.3|protein_coding|4/10|c.520+12_520+13insTATAAG||||||,ATATACTTATA|intron_variant|MODIFIER|MRPL39|MRPL39|transcript|NM_017446.3|protein_coding|4/9|c.520+12_520+13insTATAAG||||||,ATATACTTATA|intron_variant|MODIFIER|MRPL39|MRPL39|transcript|XM_011529651.2|protein_coding|4/9|c.394+12_394+13insTATAAG||||||,ATATACTTATA|intron_variant|MODIFIER|MRPL39|MRPL39|transcript|XM_006724026.3|protein_coding|4/9|c.520+12_520+13insTATAAG||||||;ASP;DP4=0,0,70,28;DP=114;FQ=-182.527;GENEINFO=MRPL39:54148;GNO;IDV=47;IMF=0.824561;INDEL;INT;MQ0F=0;MQ=60;MQSB=1;RS=79617337;RSPOS=25601355;SAO=0;SF=0,1;SGB=-0.693147;SLO;SSR=0;VC=DIV;VDB=9.3752e-05;VP=0x050100080005000102000200;WGT=1;dbSNPBuildID=131 GT:PL:DP 1/1:255,148,0:49 1/1:255,148,0:49 chr21 25768962 . CATTT CATTTATTT 194.59 . AC1=2;AC=4;AF1=1;AN=4;ANN=CATTTATTT|intron_variant|MODIFIER|GABPA|GABPA|transcript|NM_001197297.1|protein_coding|9/9|c.1137-41_1137-38dupATTT||||||,CATTTATTT|intron_variant|MODIFIER|GABPA|GABPA|transcript|NM_002040.3|protein_coding|9/9|c.1137-41_1137-38dupATTT||||||,CATTTATTT|intron_variant|MODIFIER|GABPA|GABPA|transcript|XM_011529520.2|protein_coding|10/10|c.1137-41_1137-38dupATTT||||||,CATTTATTT|intron_variant|MODIFIER|GABPA|GABPA|transcript|XM_011529521.2|protein_coding|11/11|c.1137-41_1137-38dupATTT||||||,CATTTATTT|intron_variant|MODIFIER|GABPA|GABPA|transcript|XM_005260938.4|protein_coding|9/9|c.1137-41_1137-38dupATTT||||||,CATTTATTT|intron_variant|MODIFIER|GABPA|GABPA|transcript|XM_017028313.1|protein_coding|9/9|c.1137-41_1137-38dupATTT||||||;DP4=0,0,12,0;DP=12;FQ=-52.5252;IDV=6;IMF=1;INDEL;MQ0F=0;MQ=60;SF=0,1;SGB=-0.616816;VDB=0.434785 GT:PL:DP 1/1:235,18,0:6 1/1:235,18,0:6 chr21 26843507 rs3838076 CA CACAA 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=CACAA|intron_variant|MODIFIER|ADAMTS1|ADAMTS1|transcript|NM_006988.4|protein_coding|1/8|c.730+716_730+717insTTG||||||;ASP;DP4=0,0,72,16;DP=182;FQ=-166.527;GENEINFO=ADAMTS1:9510;GNO;IDV=80;IMF=0.879121;INDEL;INT;KGPhase1;MQ0F=0;MQ=60;MQSB=1;RS=3838076;RSPOS=26843508;SAO=0;SF=0,1;SGB=-0.693146;SLO;SSR=0;VC=DIV;VDB=0.0779245;VP=0x05010008000500011e000200;WGT=1;dbSNPBuildID=107 GT:DP:PL 1/1:44:255,132,0 1/1:44:255,132,0 chr21 26843517 . GCC GC 117.49 . AC1=2;AC=4;AF1=1;AN=4;ANN=GC|intron_variant|MODIFIER|ADAMTS1|ADAMTS1|transcript|NM_006988.4|protein_coding|1/8|c.730+706delG||||||;DP4=0,0,12,4;DP=176;FQ=-58.5253;IDV=85;IMF=0.965909;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.651104;VDB=0.000130447 GT:DP:PL 1/1:8:158,24,0 1/1:8:158,24,0 chr21 28931066 rs58579273 GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT 123.48 . AC1=1;AC=2,0,0;AF1=0.501256;AN=4;ANN=GGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|NM_015565.2|protein_coding|29/29|c.5376+55_5376+60delACACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|NM_015565.2|protein_coding|29/29|c.5376+55_5376+58delACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|NM_015565.2|protein_coding|29/29|c.5376+54_5376+55insAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|XM_017028317.1|protein_coding|19/19|c.3105+55_3105+60delACACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|XM_017028317.1|protein_coding|19/19|c.3105+55_3105+58delACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|XM_017028317.1|protein_coding|19/19|c.3105+54_3105+55insAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|XM_017028316.1|protein_coding|28/28|c.4371+55_4371+60delACACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|XM_017028316.1|protein_coding|28/28|c.4371+55_4371+58delACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|XM_017028316.1|protein_coding|28/28|c.4371+54_4371+55insAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|NM_001320766.1|protein_coding|28/28|c.5334+55_5334+60delACACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|NM_001320766.1|protein_coding|28/28|c.5334+55_5334+58delACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|LTN1|LTN1|transcript|NM_001320766.1|protein_coding|28/28|c.5334+54_5334+55insAC||||||;ASP;DP4=2,0,16,0;DP=22;FQ=-11.8201;GENEINFO=LTN1:26046;IDV=9;IMF=0.818182;INDEL;INT;MQ0F=0;MQ=60;PV4=1,1,1,0.246313;RS=58579273;RSPOS=28931100;SAO=0;SF=0,1;SGB=-0.651104;SSR=0;VC=DIV;VDB=0.00542535;VP=0x050000080005000002000200;WGT=1;dbSNPBuildID=129 GT:DP:PL 0/1:9:246,85,108,138,0,163,198,66,119,227 0/1:9:246,85,108,138,0,163,198,66,119,227 chr21 28943982 . T TTTAAGATTTAAGAA 58.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=TTTAAGATTTAAGAA|intron_variant|MODIFIER|LTN1|LTN1|transcript|NM_015565.2|protein_coding|22/29|c.4121-79_4121-78insTTCTTAAATCTTAA||||||,TTTAAGATTTAAGAA|intron_variant|MODIFIER|LTN1|LTN1|transcript|XM_017028317.1|protein_coding|12/19|c.1850-79_1850-78insTTCTTAAATCTTAA||||||,TTTAAGATTTAAGAA|intron_variant|MODIFIER|LTN1|LTN1|transcript|XM_017028316.1|protein_coding|21/28|c.3116-79_3116-78insTTCTTAAATCTTAA||||||,TTTAAGATTTAAGAA|intron_variant|MODIFIER|LTN1|LTN1|transcript|NM_001320766.1|protein_coding|21/28|c.4079-79_4079-78insTTCTTAAATCTTAA||||||;DP4=0,6,0,4;DP=12;FQ=61.408;IDV=2;IMF=0.333333;INDEL;MQ0F=0;MQ=60;PV4=1,1,1,1;SF=0,1;SGB=-0.453602;VDB=0.467314 GT:PL:DP 0/1:96,0,114:5 0/1:96,0,114:5 chr21 28965971 rs5843357 G GC 86.72 . AC1=2;AC=4;AF1=1;AN=4;ANN=GC|upstream_gene_variant|MODIFIER|LTN1|LTN1|transcript|XM_017028317.1|protein_coding||c.-1366_-1365insG|||||807|,GC|intron_variant|MODIFIER|LTN1|LTN1|transcript|NM_015565.2|protein_coding|10/29|c.2260-66_2260-65insG||||||,GC|intron_variant|MODIFIER|LTN1|LTN1|transcript|XM_017028316.1|protein_coding|9/28|c.1255-66_1255-65insG||||||,GC|intron_variant|MODIFIER|LTN1|LTN1|transcript|NM_001320766.1|protein_coding|10/28|c.2259+398_2259+399insG||||||,GC|intron_variant|MODIFIER|LTN1|LTN1|transcript|XM_006723987.3|protein_coding|10/13|c.2260-66_2260-65insG||||||;ASP;CAF=0,1;COMMON=0;DP4=0,0,2,8;DP=14;FQ=-49.5252;GENEINFO=LTN1:26046;GNO;IDV=7;IMF=1;INDEL;INT;KGPhase1;KGPhase3;MQ0F=0;MQ=60;MQSB=1;R5;RS=5843357;RSPOS=28965971;SAO=0;SF=0,1;SGB=-0.590765;SLO;SSR=0;VC=DIV;VDB=0.685687;VLD;VP=0x0501000a000504013e000200;WGT=1;dbSNPBuildID=130 GT:DP:PL 1/1:5:127,15,0 1/1:5:127,15,0 chr21 29038470 . CTGAATG CTG 217.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=CTG|intron_variant|MODIFIER|USP16|USP16|transcript|NM_001032410.1|protein_coding|8/18|c.732+43_732+46delAATG||||||,CTG|intron_variant|MODIFIER|USP16|USP16|transcript|NM_001001992.1|protein_coding|7/17|c.729+43_729+46delAATG||||||,CTG|intron_variant|MODIFIER|USP16|USP16|transcript|NM_006447.2|protein_coding|7/17|c.732+43_732+46delAATG||||||,CTG|intron_variant|MODIFIER|USP16|USP16|transcript|XM_017028258.1|protein_coding|8/18|c.729+43_729+46delAATG||||||,CTG|intron_variant|MODIFIER|USP16|USP16|transcript|XM_017028261.1|protein_coding|8/18|c.-188+43_-188+46delAATG||||||,CTG|intron_variant|MODIFIER|USP16|USP16|transcript|XM_017028257.1|protein_coding|8/18|c.732+43_732+46delAATG||||||,CTG|intron_variant|MODIFIER|USP16|USP16|transcript|XM_017028259.1|protein_coding|8/18|c.729+43_729+46delAATG||||||,CTG|intron_variant|MODIFIER|USP16|USP16|transcript|XM_017028260.1|protein_coding|6/16|c.-188+43_-188+46delAATG||||||;DP4=8,16,12,16;DP=66;FQ=217.468;IDV=13;IMF=0.393939;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=0.701494,0.168526,1,1;SF=0,1;SGB=-0.686358;VDB=0.00213644 GT:PL:DP 0/1:255,0,255:26 0/1:255,0,255:26 chr21 30541662 rs5843453 AG A 144.26 . AC1=1;AC=2;AF1=0.624261;AN=4;ANN=A|frameshift_variant|HIGH|KRTAP19-6|KRTAP19-6|transcript|NM_181612.3|protein_coding|1/1|c.171delC|p.Tyr58fs|202/330|171/177|57/58||;ASP;CAF=0.2129,0.7871;COMMON=1;DP4=2,0,20,2;DP=32;FQ=-30.5287;G5;G5A;GENEINFO=KRTAP19-6:337973;GNO;HD;IDV=15;IMF=0.9375;INDEL;KGPhase1;KGPhase3;MQ0F=0;MQ=60;MQSB=1;NSF;PV4=1,0.0917973,1,0.295054;REF;RS=5843453;RSPOS=30541663;SAO=0;SF=0,1;SGB=-0.676189;SLO;SSR=0;TOPMED=0.211381,0.788619;VC=DIV;VDB=0.228708;VLD;VP=0x05010000120517053e000200;WGT=1;dbSNPBuildID=126 GT:DP:PL 0/1:12:181,0,4 0/1:12:181,0,4 chr21 30601313 . ATGTTTTCTTCCCGTGTTTT ATGTTTT 217.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=ATGTTTT|upstream_gene_variant|MODIFIER|KRTAP6-2|KRTAP6-2|transcript|NM_181604.1|protein_coding||c.-2458_-2446delAAAACACGGGAAG|||||2446|,ATGTTTT|downstream_gene_variant|MODIFIER|KRTAP22-1|KRTAP22-1|transcript|NM_181620.1|protein_coding||c.*53_*65delCTTCCCGTGTTTT|||||53|,ATGTTTT|intergenic_region|MODIFIER|KRTAP22-1-KRTAP6-1|KRTAP22-1-KRTAP6-1|intergenic_region|KRTAP22-1-KRTAP6-1|||n.30601320_30601332delCTTCCCGTGTTTT||||||;DP4=18,36,12,16;DP=116;FQ=217.468;IDV=13;IMF=0.224138;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=0.733741,0.496859,1,1;SF=0,1;SGB=-0.686358;VDB=0.126638 GT:DP:PL 0/1:41:255,0,255 0/1:41:255,0,255 chr21 32044011 . AGTGTGTGTG AGTGTGTG 217.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=AGTGTGTG|intergenic_region|MODIFIER|HUNK-LINC00159|HUNK-LINC00159|intergenic_region|HUNK-LINC00159|||n.32044019_32044020delTG||||||;DP4=18,4,14,12;DP=60;FQ=217.468;IDV=16;IMF=0.533333;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=0.210796,0.00269496,1,1;SF=0,1;SGB=-0.683931;VDB=0.706779 GT:PL:DP 0/1:255,0,255:24 0/1:255,0,255:24 chr21 32631618 rs57257560 AA AAGTATTA 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=AAGTATTA|conservative_inframe_insertion|MODERATE|SYNJ1|SYNJ1|transcript|NM_003895.3|protein_coding|32/32|c.4214_4215insTAATAC|p.Val1405_Leu1406insAsnThr|4214/7075|4214/4839|1405/1612||,AAGTATTA|conservative_inframe_insertion|MODERATE|SYNJ1|SYNJ1|transcript|NM_001160306.1|protein_coding|28/28|c.3956_3957insTAATAC|p.Val1319_Leu1320insAsnThr|4081/6942|3956/4581|1319/1526||,AAGTATTA|conservative_inframe_insertion|MODERATE|SYNJ1|SYNJ1|transcript|XM_017028494.1|protein_coding|31/31|c.4049_4050insTAATAC|p.Val1350_Leu1351insAsnThr|4156/7013|4049/4674|1350/1557||,AAGTATTA|conservative_inframe_insertion|MODERATE|SYNJ1|SYNJ1|transcript|XM_017028496.1|protein_coding|30/30|c.4010_4011insTAATAC|p.Val1337_Leu1338insAsnThr|4117/6974|4010/4635|1337/1544||,AAGTATTA|conservative_inframe_insertion|MODERATE|SYNJ1|SYNJ1|transcript|XM_017028498.1|protein_coding|29/29|c.3971_3972insTAATAC|p.Val1324_Leu1325insAsnThr|4078/6935|3971/4596|1324/1531||,AAGTATTA|conservative_inframe_insertion|MODERATE|SYNJ1|SYNJ1|transcript|XM_017028495.1|protein_coding|31/31|c.4199_4200insTAATAC|p.Val1400_Leu1401insAsnThr|4214/7071|4199/4824|1400/1607||,AAGTATTA|conservative_inframe_insertion|MODERATE|SYNJ1|SYNJ1|transcript|XM_017028499.1|protein_coding|28/28|c.4073_4074insTAATAC|p.Val1358_Leu1359insAsnThr|4088/6945|4073/4698|1358/1565||,AAGTATTA|conservative_inframe_insertion|MODERATE|SYNJ1|SYNJ1|transcript|XM_017028497.1|protein_coding|31/31|c.4166_4167insTAATAC|p.Val1389_Leu1390insAsnThr|4254/7111|4166/4791|1389/1596||,AAGTATTA|3_prime_UTR_variant|MODIFIER|SYNJ1|SYNJ1|transcript|NM_001160302.1|protein_coding|32/32|c.*185_*186insTAATAC|||||3244|,AAGTATTA|3_prime_UTR_variant|MODIFIER|SYNJ1|SYNJ1|transcript|NM_203446.2|protein_coding|33/33|c.*185_*186insTAATAC|||||3244|,AAGTATTA|3_prime_UTR_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028500.1|protein_coding|33/33|c.*185_*186insTAATAC|||||3244|,AAGTATTA|3_prime_UTR_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028501.1|protein_coding|33/33|c.*185_*186insTAATAC|||||3244|,AAGTATTA|3_prime_UTR_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028502.1|protein_coding|32/32|c.*185_*186insTAATAC|||||3244|,AAGTATTA|3_prime_UTR_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028503.1|protein_coding|31/31|c.*185_*186insTAATAC|||||3244|,AAGTATTA|3_prime_UTR_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028504.1|protein_coding|30/30|c.*185_*186insTAATAC|||||3244|,AAGTATTA|3_prime_UTR_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028505.1|protein_coding|29/29|c.*185_*186insTAATAC|||||3244|;ASP;DP4=0,0,66,42;DP=122;FQ=-197.527;GENEINFO=SYNJ1:8867;GNO;IDV=54;IMF=0.885246;INDEL;MQ0F=0;MQ=60;MQSB=1;RS=57257560;RSPOS=32631619;SAO=0;SF=0,1;SGB=-0.693147;SLO;SSR=0;U3;VC=DIV;VDB=1.5009e-07;VP=0x050100800005000102000200;WGT=1;dbSNPBuildID=129 GT:PL:DP 1/1:255,163,0:54 1/1:255,163,0:54 chr21 32678627 . AATATA AATA 135.72 . AC1=2;AC=4;AF1=1;AN=4;ANN=AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|NM_003895.3|protein_coding|12/31|c.1627+13_1627+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|NM_001160302.1|protein_coding|12/31|c.1510+13_1510+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|NM_001160306.1|protein_coding|12/27|c.1519+13_1519+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|NM_203446.2|protein_coding|12/32|c.1627+13_1627+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028494.1|protein_coding|12/30|c.1510+13_1510+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028496.1|protein_coding|12/29|c.1510+13_1510+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028498.1|protein_coding|12/28|c.1510+13_1510+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028500.1|protein_coding|12/32|c.1510+13_1510+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028501.1|protein_coding|12/32|c.1510+13_1510+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028502.1|protein_coding|12/31|c.1510+13_1510+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028503.1|protein_coding|12/30|c.1510+13_1510+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028504.1|protein_coding|12/29|c.1510+13_1510+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028495.1|protein_coding|12/30|c.1636+13_1636+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028499.1|protein_coding|12/27|c.1636+13_1636+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028505.1|protein_coding|12/28|c.1636+13_1636+14delTA||||||,AATA|intron_variant|MODIFIER|SYNJ1|SYNJ1|transcript|XM_017028497.1|protein_coding|12/30|c.1627+13_1627+14delTA||||||;DP4=0,0,10,0;DP=14;FQ=-49.5252;IDV=7;IMF=1;INDEL;MQ0F=0;MQ=60;SF=0,1;SGB=-0.590765;VDB=0.244166 GT:DP:PL 1/1:5:176,15,0 1/1:5:176,15,0 chr21 33165759 . CTT CTTT 153.47 . AC1=2;AC=4;AF1=1;AN=4;ANN=CTTT|intron_variant|MODIFIER|LINC01548|LINC01548|transcript|NR_024102.1|lincRNA|3/3|n.374-71_374-70insA||||||;DP4=0,0,4,16;DP=30;FQ=-64.5253;IDV=13;IMF=0.866667;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.670168;VDB=0.0211989 GT:PL:DP 1/1:194,30,0:10 1/1:194,30,0:10 chr21 33252081 . CATCTATCTATCTATCTATCTATCTATCTATCTATCTAT CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT 122.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT|intron_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_001289125.1|protein_coding|6/8|c.541-546_541-543dupCTAT||||||,CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT|intron_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_000874.4|protein_coding|6/8|c.541-546_541-543dupCTAT||||||,CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT|intron_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_207584.2|protein_coding|6/8|c.541-546_541-543dupCTAT||||||,CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT|intron_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_001289126.1|protein_coding|6/7|c.541-546_541-543dupCTAT||||||,CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT|intron_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_001289128.1|protein_coding|6/7|c.541-546_541-543dupCTAT||||||,CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT|intron_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_207585.2|protein_coding|6/8|c.541-546_541-543dupCTAT||||||;DP4=10,0,10,0;DP=22;FQ=125.473;IDV=3;IMF=0.272727;INDEL;MQ0F=0;MQ=60;PV4=1,0.454553,1,0.0995054;SF=0,1;SGB=-0.590765;VDB=0.00131656 GT:PL:DP 0/1:160,0,190:10 0/1:160,0,190:10 chr21 33262748 . GT GTT 38.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=GTT|3_prime_UTR_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_000874.4|protein_coding|9/9|c.*33dupT|||||34|,GTT|3_prime_UTR_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_207584.2|protein_coding|9/9|c.*33dupT|||||34|,GTT|upstream_gene_variant|MODIFIER|IL10RB|IL10RB|transcript|NM_000628.4|protein_coding||c.-3717dupT|||||3610|,GTT|downstream_gene_variant|MODIFIER|IL10RB-AS1|IL10RB-AS1|transcript|NR_038974.1|lincRNA||n.*2882_*2883insA|||||2882|,GTT|intron_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_001289125.1|protein_coding|8/8|c.841-44dupT||||||,GTT|intron_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_001289126.1|protein_coding|7/7|c.710-44dupT||||||,GTT|intron_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_001289128.1|protein_coding|7/7|c.710-44dupT||||||,GTT|intron_variant|MODIFIER|IFNAR2|IFNAR2|transcript|NM_207585.2|protein_coding|8/8|c.841-44dupT||||||;DP4=2,4,2,4;DP=14;FQ=39.7121;IDV=3;IMF=0.428571;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=1,0.419271,1,0.221969;SF=0,1;SGB=-0.511536;VDB=0.00656224 GT:DP:PL 0/1:6:76,0,79 0/1:6:76,0,79 chr21 33576378 . GA GAA 167.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=GAA|frameshift_variant|HIGH|SON|SON|transcript|NM_138927.2|protein_coding|12/12|c.7236dupA|p.Ala2413fs|7292/8426|7237/7281|2413/2426||,GAA|frameshift_variant|HIGH|SON|SON|transcript|NM_001291412.1|protein_coding|11/11|c.1320dupA|p.Ala441fs|1376/2510|1321/1365|441/454||,GAA|upstream_gene_variant|MODIFIER|LOC107985481|LOC107985481|transcript|XR_001755010.1|lincRNA||n.-2986_-2985insT|||||2986|,GAA|downstream_gene_variant|MODIFIER|DONSON|DONSON|transcript|NM_017613.3|protein_coding||c.*1927_*1928insT|||||1171|,GAA|intron_variant|MODIFIER|SON|SON|transcript|NR_103797.1|pseudogene|12/12|n.7357-39dupA||||||;DP4=0,0,30,6;DP=80;FQ=-88.5256;IDV=39;IMF=0.975;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.691153;VDB=0.0155939 GT:DP:PL 1/1:18:208,54,0 1/1:18:208,54,0 chr21 33576390 rs34373121 GA G 71.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=G|frameshift_variant|HIGH|SON|SON|transcript|NM_138927.2|protein_coding|12/12|c.7248delA|p.Arg2416fs|7303/8426|7248/7281|2416/2426||,G|frameshift_variant|HIGH|SON|SON|transcript|NM_001291412.1|protein_coding|11/11|c.1332delA|p.Arg444fs|1387/2510|1332/1365|444/454||,G|upstream_gene_variant|MODIFIER|LOC107985481|LOC107985481|transcript|XR_001755010.1|lincRNA||n.-2997delT|||||2997|,G|downstream_gene_variant|MODIFIER|DONSON|DONSON|transcript|NM_017613.3|protein_coding||c.*1916delT|||||1160|,G|intron_variant|MODIFIER|SON|SON|transcript|NR_103797.1|pseudogene|12/12|n.7357-27delA||||||;ASP;CAF=0,1;COMMON=0;DP4=0,0,20,4;DP=78;FQ=-70.5254;GENEINFO=SON:6651;GNO;IDV=37;IMF=0.948718;INDEL;INT;KGPhase1;KGPhase3;MQ0F=0;MQ=60;MQSB=1;NSF;REF;RS=34373121;RSPOS=33576391;SAO=0;SF=0,1;SGB=-0.680642;SLO;SSR=0;TOPMED=3.4343e-005,0.999966;VC=DIV;VDB=0.114178;VLD;VP=0x05010008120504013e000200;WGT=1;dbSNPBuildID=126 GT:PL:DP 1/1:112,36,0:12 1/1:112,36,0:12 chr21 33856723 . TTGTGT TTGT 217.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|NM_003024.2|protein_coding|29/39|c.3662-9_3662-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XR_001754890.1|pseudogene|27/37|n.3826-9_3826-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XM_005261026.2|protein_coding|28/38|c.3647-9_3647-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XM_017028429.1|protein_coding|29/39|c.3551-9_3551-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XM_017028430.1|protein_coding|28/38|c.3536-9_3536-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XM_017028431.1|protein_coding|29/38|c.3662-9_3662-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XM_017028432.1|protein_coding|28/37|c.3647-9_3647-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XM_017028433.1|protein_coding|27/37|c.3449-9_3449-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XM_017028434.1|protein_coding|26/36|c.3434-9_3434-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XM_017028435.1|protein_coding|27/37|c.3338-9_3338-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XM_017028436.1|protein_coding|26/36|c.3323-9_3323-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XM_017028428.1|protein_coding|30/40|c.3662-9_3662-8delGT||||||,TTGT|splice_region_variant&intron_variant|LOW|ITSN1|ITSN1|transcript|XM_017028437.1|protein_coding|24/34|c.2054-9_2054-8delGT||||||;DP4=52,24,48,14;DP=164;FQ=217.468;IDV=36;IMF=0.439024;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=0.432402,0.00577508,1,1;SF=0,1;SGB=-0.69311;VDB=0.0442278 GT:PL:DP 0/1:255,0,255:69 0/1:255,0,255:69 chr21 33888114 rs67686176 TGGTCCCTC T 175.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|NM_003024.2|protein_coding|39/39|c.5018-37_5018-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XR_001754890.1|pseudogene|37/37|n.5182-37_5182-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XM_005261026.2|protein_coding|38/38|c.5003-37_5003-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XM_017028429.1|protein_coding|39/39|c.4907-37_4907-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XM_017028430.1|protein_coding|38/38|c.4892-37_4892-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XM_017028431.1|protein_coding|38/38|c.4850-37_4850-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XM_017028432.1|protein_coding|37/37|c.4835-37_4835-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XM_017028433.1|protein_coding|37/37|c.4805-37_4805-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XM_017028434.1|protein_coding|36/36|c.4790-37_4790-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XM_017028435.1|protein_coding|37/37|c.4694-37_4694-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XM_017028436.1|protein_coding|36/36|c.4679-37_4679-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XM_017028428.1|protein_coding|40/40|c.5018-37_5018-30delGGTCCCTC||||||,T|intron_variant|MODIFIER|ITSN1|ITSN1|transcript|XM_017028437.1|protein_coding|34/34|c.3410-37_3410-30delGGTCCCTC||||||;ASP;CAF=0.9131,0.08686;COMMON=1;DP4=16,6,8,4;DP=34;FQ=178.477;G5;GENEINFO=ITSN1:6453;IDV=6;IMF=0.352941;INDEL;INT;KGPhase1;KGPhase3;MQ0F=0;MQ=60;MQSB=1;PV4=1,0.102613,1,1;RS=67686176;RSPOS=33888115;SAO=0;SF=0,1;SGB=-0.616816;SSR=0;TOPMED=0.873137,0.126863;VC=DIV;VDB=0.000274237;VLD;VP=0x05000008000515003e000200;WGT=1;dbSNPBuildID=135 GT:DP:PL 0/1:17:213,0,255 0/1:17:213,0,255 chr21 34095173 rs11295803 AG A 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=A|5_prime_UTR_variant|MODIFIER|SLC5A3|SLC5A3|transcript|NM_006933.6|protein_coding|2/2|c.-25delG|||||25|,A|intron_variant|MODIFIER|MRPS6|MRPS6|transcript|NM_032476.3|protein_coding|1/2|c.45+21429delG||||||;ASP;CAF=0,1;COMMON=0;DP4=0,0,52,4;DP=66;FQ=-118.526;GENEINFO=SLC5A3:6526|MRPS6:64968;GNO;IDV=32;IMF=0.969697;INDEL;INT;KGPhase1;KGPhase3;MQ0F=0;MQ=60;MQSB=1;RS=11295803;RSPOS=34095174;SAO=0;SF=0,1;SGB=-0.693054;SLO;SSR=0;U5;VC=DIV;VDB=0.465295;VP=0x05010048000500013e000200;WGT=1;dbSNPBuildID=126 GT:PL:DP 1/1:255,84,0:28 1/1:255,84,0:28 chr21 34097409 . GAAAAAA GAAAAAAA 62.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=GAAAAAAA|3_prime_UTR_variant|MODIFIER|SLC5A3|SLC5A3|transcript|NM_006933.6|protein_coding|2/2|c.*60dupA|||||61|,GAAAAAAA|intron_variant|MODIFIER|MRPS6|MRPS6|transcript|NM_032476.3|protein_coding|1/2|c.45+23670dupA||||||;DP4=0,0,28,4;DP=82;FQ=-82.5256;IDV=39;IMF=0.951219;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.689466;VDB=0.0297528 GT:DP:PL 1/1:16:103,48,0 1/1:16:103,48,0 chr21 34097427 . GT GTT 114.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=GTT|3_prime_UTR_variant|MODIFIER|SLC5A3|SLC5A3|transcript|NM_006933.6|protein_coding|2/2|c.*73dupT|||||74|,GTT|intron_variant|MODIFIER|MRPS6|MRPS6|transcript|NM_032476.3|protein_coding|1/2|c.45+23683dupT||||||;DP4=0,0,22,6;DP=78;FQ=-76.5255;IDV=35;IMF=0.897436;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.686358;VDB=0.00899723 GT:PL:DP 1/1:155,42,0:14 1/1:155,42,0:14 chr21 34707437 . GCACACACACACACACACACACACACACACACAC GCACACACACACACACACACACACACACACACACACACACACAC 89.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=GCACACACACACACACACACACACACACACACACACACACACAC|intron_variant|MODIFIER|CLIC6|CLIC6|transcript|XM_017028406.1|protein_coding|2/4|c.1484+72_1484+81dupACACACACAC||||||,GCACACACACACACACACACACACACACACACACACACACACAC|intron_variant|MODIFIER|CLIC6|CLIC6|transcript|NM_001317009.1|protein_coding|3/6|c.1538+72_1538+81dupACACACACAC||||||,GCACACACACACACACACACACACACACACACACACACACACAC|intron_variant|MODIFIER|CLIC6|CLIC6|transcript|NM_053277.2|protein_coding|2/5|c.1484+72_1484+81dupACACACACAC||||||;DP4=0,10,0,10;DP=56;FQ=61.4728;IDV=6;IMF=0.214286;INDEL;MQ0F=0;MQ=58;PV4=1,1,1,1;SF=0,1;SGB=-0.590765;VDB=0.0478483 GT:PL:DP 0/1:127,0,96:10 0/1:127,0,96:10 chr21 36356594 . CTTGA CTTGAATTGA 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=CTTGAATTGA|intron_variant|MODIFIER|MORC3|MORC3|transcript|NM_015358.2|protein_coding|9/16|c.1104-22_1104-21insATTGA||||||,CTTGAATTGA|intron_variant|MODIFIER|MORC3|MORC3|transcript|NM_001320445.1|protein_coding|8/15|c.891-22_891-21insATTGA||||||,CTTGAATTGA|intron_variant|MODIFIER|MORC3|MORC3|transcript|NM_001320446.1|protein_coding|10/17|c.891-22_891-21insATTGA||||||,CTTGAATTGA|intron_variant|MODIFIER|MORC3|MORC3|transcript|XM_017028312.1|protein_coding|8/15|c.-49-22_-49-21insATTGA||||||,CTTGAATTGA|intron_variant|MODIFIER|MORC3|MORC3|transcript|XM_011529518.2|protein_coding|9/16|c.891-22_891-21insATTGA||||||,CTTGAATTGA|intron_variant|MODIFIER|MORC3|MORC3|transcript|XM_017028311.1|protein_coding|9/16|c.891-22_891-21insATTGA||||||;DP4=0,0,22,8;DP=32;FQ=-79.5255;IDV=14;IMF=0.875;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.688148;VDB=0.0139119 GT:DP:PL 1/1:15:255,45,0 1/1:15:255,45,0 chr21 36487368 . TACTCACT TACT 196.47 . AC1=1;AC=2;AF1=0.500031;AN=4;ANN=TACT|intron_variant|MODIFIER|CLDN14|CLDN14|transcript|NM_001146077.1|protein_coding|2/2|c.-82+22988_-82+22991delAGTG||||||,TACT|intron_variant|MODIFIER|LOC105369301|LOC105369301|transcript|XR_001755025.1|lincRNA|3/3|n.2063+5547_2063+5550delCACT||||||,TACT|intron_variant|MODIFIER|CLDN14|CLDN14|transcript|NM_001146078.2|protein_coding|2/2|c.-82+22988_-82+22991delAGTG||||||,TACT|non_coding_transcript_exon_variant|MODIFIER|PSMD4P1|PSMD4P1|transcript|TRANSCRIPT_PSMD4P1|pseudogene|1/2|n.58_61delAGTG||||||;DP4=2,0,8,4;DP=16;FQ=5.80079;IDV=6;IMF=0.75;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=1,0.128472,1,0.255643;SF=0,1;SGB=-0.616816;VDB=0.391417 GT:PL:DP 0/1:234,0,39:7 0/1:234,0,39:7 chr21 36930243 . CAA CA 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XM_005260953.3|protein_coding|5/10|c.1620+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|NM_001242784.1|protein_coding|6/11|c.1179+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|NM_001242785.1|protein_coding|6/11|c.1179+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|NM_000411.6|protein_coding|6/11|c.1179+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XM_017028330.1|protein_coding|5/10|c.1179+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XM_011529541.2|protein_coding|5/10|c.1179+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XM_005260956.3|protein_coding|5/10|c.1179+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XM_006723994.2|protein_coding|5/10|c.1179+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XM_005260955.3|protein_coding|5/10|c.1179+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XR_001754835.1|pseudogene|5/10|n.1621+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XR_001754836.1|pseudogene|5/9|n.1621+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XM_006723995.1|protein_coding|6/11|c.1179+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XR_001754839.1|pseudogene|5/10|n.1606+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XM_011529538.1|protein_coding|6/11|c.1179+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XR_001754838.1|pseudogene|5/10|n.1492+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XM_011529539.2|protein_coding|6/11|c.1179+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XR_001754840.1|pseudogene|5/11|n.1621+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XR_001754837.1|pseudogene|5/8|n.1621+6delT||||||,CA|splice_region_variant&intron_variant|LOW|HLCS|HLCS|transcript|XM_011529540.2|protein_coding|5/6|c.1620+6delT||||||;DP4=0,0,46,12;DP=78;FQ=-121.526;IDV=39;IMF=1;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.693079;VDB=0.309334 GT:PL:DP 1/1:255,87,0:29 1/1:255,87,0:29 chr21 37122913 . GAAA GAAAA 66.72 . AC1=2;AC=4;AF1=1;AN=4;ANN=GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028458.1|protein_coding|13/47|c.1178-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001320703.1|protein_coding|12/46|c.1130-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001320704.1|protein_coding|12/46|c.1064-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028467.1|protein_coding|3/36|c.134-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261055.1|protein_coding|3/37|c.134-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028466.1|protein_coding|3/36|c.134-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001001894.1|protein_coding|12/45|c.1064-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261056.2|protein_coding|3/37|c.134-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028462.1|protein_coding|13/46|c.1112-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261049.1|protein_coding|13/47|c.1112-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261052.1|protein_coding|12/46|c.1064-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028461.1|protein_coding|13/46|c.1112-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028463.1|protein_coding|12/45|c.1064-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261048.1|protein_coding|13/47|c.1112-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XR_001754907.1|pseudogene|13/38|n.1221-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_011529742.2|protein_coding|13/31|c.1178-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028459.1|protein_coding|13/46|c.1178-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028460.1|protein_coding|12/45|c.1130-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261050.4|protein_coding|13/47|c.1112-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261054.3|protein_coding|12/46|c.1064-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_003316.3|protein_coding|12/45|c.1064-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_011529740.2|protein_coding|10/43|c.365-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028465.1|protein_coding|9/43|c.134-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_011529739.2|protein_coding|5/39|c.365-67dupA||||||,GAAAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028464.1|protein_coding|3/37|c.281-67dupA||||||;DP4=0,0,10,0;DP=12;FQ=-49.5252;IDV=6;IMF=1;INDEL;MQ0F=0;MQ=60;SF=0,1;SGB=-0.590765;VDB=0.0414745 GT:PL:DP 1/1:107,15,0:5 1/1:107,15,0:5 chr21 37122970 . AT ATT 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028458.1|protein_coding|13/47|c.1178-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001320703.1|protein_coding|12/46|c.1130-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001320704.1|protein_coding|12/46|c.1064-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028467.1|protein_coding|3/36|c.134-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261055.1|protein_coding|3/37|c.134-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028466.1|protein_coding|3/36|c.134-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001001894.1|protein_coding|12/45|c.1064-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261056.2|protein_coding|3/37|c.134-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028462.1|protein_coding|13/46|c.1112-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261049.1|protein_coding|13/47|c.1112-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261052.1|protein_coding|12/46|c.1064-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028461.1|protein_coding|13/46|c.1112-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028463.1|protein_coding|12/45|c.1064-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261048.1|protein_coding|13/47|c.1112-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XR_001754907.1|pseudogene|13/38|n.1221-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_011529742.2|protein_coding|13/31|c.1178-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028459.1|protein_coding|13/46|c.1178-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028460.1|protein_coding|12/45|c.1130-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261050.4|protein_coding|13/47|c.1112-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261054.3|protein_coding|12/46|c.1064-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_003316.3|protein_coding|12/45|c.1064-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_011529740.2|protein_coding|10/43|c.365-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028465.1|protein_coding|9/43|c.134-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_011529739.2|protein_coding|5/39|c.365-12dupT||||||,ATT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028464.1|protein_coding|3/37|c.281-12dupT||||||;DP4=0,0,40,4;DP=58;FQ=-100.526;IDV=28;IMF=0.965517;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.692562;VDB=0.0147193 GT:PL:DP 1/1:255,66,0:22 1/1:255,66,0:22 chr21 37161926 . ATTTTT ATTTTTT 74.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=ATTTTTT|downstream_gene_variant|MODIFIER|TTC3|TTC3|transcript|XM_011529742.2|protein_coding||c.*2232dupT|||||1109|,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028458.1|protein_coding|32/47|c.3265-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001320703.1|protein_coding|31/46|c.3217-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001320704.1|protein_coding|31/46|c.3151-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028467.1|protein_coding|21/36|c.2167-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261055.1|protein_coding|22/37|c.2221-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028466.1|protein_coding|21/36|c.2167-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001001894.1|protein_coding|30/45|c.3097-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261056.2|protein_coding|22/37|c.2221-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028462.1|protein_coding|31/46|c.3145-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261049.1|protein_coding|32/47|c.3199-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261052.1|protein_coding|31/46|c.3151-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028461.1|protein_coding|31/46|c.3145-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028463.1|protein_coding|30/45|c.3097-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261048.1|protein_coding|32/47|c.3199-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XR_001754907.1|pseudogene|33/38|n.3381-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028459.1|protein_coding|31/46|c.3211-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028460.1|protein_coding|30/45|c.3163-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261050.4|protein_coding|32/47|c.3199-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261054.3|protein_coding|31/46|c.3151-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_003316.3|protein_coding|30/45|c.3097-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_011529740.2|protein_coding|28/43|c.2398-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028465.1|protein_coding|28/43|c.2221-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_011529739.2|protein_coding|24/39|c.2452-59dupT||||||,ATTTTTT|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028464.1|protein_coding|22/37|c.2368-59dupT||||||;DP4=0,0,30,2;DP=42;FQ=-82.5256;IDV=20;IMF=0.952381;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.689466;VDB=0.158935 GT:DP:PL 1/1:16:115,48,0 1/1:16:115,48,0 chr21 37167534 rs397721946 TA TAA 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028458.1|protein_coding|35/47|c.4570-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001320703.1|protein_coding|34/46|c.4522-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001320704.1|protein_coding|34/46|c.4456-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028467.1|protein_coding|24/36|c.3472-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261055.1|protein_coding|25/37|c.3526-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028466.1|protein_coding|24/36|c.3472-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_001001894.1|protein_coding|33/45|c.4402-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261056.2|protein_coding|25/37|c.3526-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028462.1|protein_coding|34/46|c.4450-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261049.1|protein_coding|35/47|c.4504-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261052.1|protein_coding|34/46|c.4456-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028461.1|protein_coding|34/46|c.4450-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028463.1|protein_coding|33/45|c.4402-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261048.1|protein_coding|35/47|c.4504-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XR_001754907.1|pseudogene|36/38|n.4686-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028459.1|protein_coding|34/46|c.4516-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028460.1|protein_coding|33/45|c.4468-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261050.4|protein_coding|35/47|c.4504-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_005261054.3|protein_coding|34/46|c.4456-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|NM_003316.3|protein_coding|33/45|c.4402-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_011529740.2|protein_coding|31/43|c.3703-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028465.1|protein_coding|31/43|c.3526-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_011529739.2|protein_coding|27/39|c.3757-20dupA||||||,TAA|intron_variant|MODIFIER|TTC3|TTC3|transcript|XM_017028464.1|protein_coding|25/37|c.3673-20dupA||||||;ASP;DP4=0,0,54,12;DP=94;FQ=-133.526;G5;G5A;GENEINFO=TTC3:7267;IDV=42;IMF=0.893617;INDEL;INT;MQ0F=0;MQ=60;MQSB=1;RS=397721946;RSPOS=37167535;SAO=0;SF=0,1;SGB=-0.693127;SSR=0;VC=DIV;VDB=0.0226584;VP=0x050000080005030002000200;WGT=1;dbSNPBuildID=138 GT:DP:PL 1/1:33:255,99,0 1/1:33:255,99,0 chr21 37227633 . TGGG TGG 189.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=TGG|intron_variant|MODIFIER|DSCR3|DSCR3|transcript|NM_006052.1|protein_coding|7/7|c.811+18delC||||||,TGG|intron_variant|MODIFIER|DSCR3|DSCR3|transcript|XM_005260909.4|protein_coding|6/6|c.730+18delC||||||,TGG|intron_variant|MODIFIER|DSCR3|DSCR3|transcript|XM_005260911.4|protein_coding|4/4|c.436+18delC||||||,TGG|intron_variant|MODIFIER|DSCR3|DSCR3|transcript|XM_011529423.2|protein_coding|6/6|c.667+18delC||||||;DP4=0,0,82,4;DP=108;FQ=-163.527;IDV=54;IMF=1;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.693146;VDB=0.0289545 GT:PL:DP 1/1:230,129,0:43 1/1:230,129,0:43 chr21 37227853 . CGGGG CGGG 110.47 . AC1=2;AC=4;AF1=1;AN=4;ANN=CGGG|intron_variant|MODIFIER|DSCR3|DSCR3|transcript|NM_006052.1|protein_coding|6/7|c.659-51delC||||||,CGGG|intron_variant|MODIFIER|DSCR3|DSCR3|transcript|XM_005260909.4|protein_coding|5/6|c.578-51delC||||||,CGGG|intron_variant|MODIFIER|DSCR3|DSCR3|transcript|XM_005260911.4|protein_coding|3/4|c.284-51delC||||||,CGGG|intron_variant|MODIFIER|DSCR3|DSCR3|transcript|XM_011529423.2|protein_coding|5/6|c.515-51delC||||||;DP4=0,0,10,8;DP=28;FQ=-61.5253;IDV=10;IMF=0.714286;INDEL;MQ0F=0;MQ=60;MQSB=0.974597;SF=0,1;SGB=-0.662043;VDB=0.613304 GT:DP:PL 1/1:9:151,27,0 1/1:9:151,27,0 chr21 39180018 . GT GTT 135.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=GTT|downstream_gene_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_017028374.1|protein_coding||c.*7006_*7007insA|||||4156|,GTT|downstream_gene_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_011529613.1|protein_coding||c.*7006_*7007insA|||||4156|,GTT|downstream_gene_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_011529612.2|protein_coding||c.*7006_*7007insA|||||4156|,GTT|downstream_gene_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_011529611.1|protein_coding||c.*7006_*7007insA|||||4156|,GTT|downstream_gene_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_017028373.1|protein_coding||c.*7006_*7007insA|||||4156|,GTT|intron_variant|MODIFIER|PSMG1|PSMG1|transcript|NM_003720.3|protein_coding|3/6|c.394-34_394-33insA||||||,GTT|intron_variant|MODIFIER|PSMG1|PSMG1|transcript|NM_001261824.1|protein_coding|3/6|c.394-49_394-48insA||||||,GTT|intron_variant|MODIFIER|PSMG1|PSMG1|transcript|NM_203433.2|protein_coding|3/5|c.393+265_393+266insA||||||,GTT|intron_variant|MODIFIER|PSMG1|PSMG1|transcript|NR_049728.1|pseudogene|2/5|n.416-34_416-33insA||||||,GTT|intron_variant|MODIFIER|PSMG1|PSMG1|transcript|XM_017028488.1|protein_coding|3/5|c.132+265_132+266insA||||||,GTT|intron_variant|MODIFIER|PSMG1|PSMG1|transcript|NM_001320795.1|protein_coding|3/6|c.133-34_133-33insA||||||;DP4=2,6,6,10;DP=30;FQ=40.4764;IDV=8;IMF=0.533333;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=1,1,1,0.448008;SF=0,1;SGB=-0.651104;VDB=0.66732 GT:DP:PL 0/1:12:173,0,75 0/1:12:173,0,75 chr21 39213404 . AAAGCCAACATTTTCTTCACTTTAA AAA 99.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=AAA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|NM_018963.4|protein_coding|33/41|c.3858+53_3858+74delTTAAAGTGAAGAAAATGTTGGC||||||,AAA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_017028374.1|protein_coding|9/17|c.891+53_891+74delTTAAAGTGAAGAAAATGTTGGC||||||,AAA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_011529613.1|protein_coding|11/19|c.891+53_891+74delTTAAAGTGAAGAAAATGTTGGC||||||,AAA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_011529612.2|protein_coding|26/34|c.3018+53_3018+74delTTAAAGTGAAGAAAATGTTGGC||||||,AAA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_011529611.1|protein_coding|33/40|c.3858+53_3858+74delTTAAAGTGAAGAAAATGTTGGC||||||,AAA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_017028373.1|protein_coding|34/42|c.3597+53_3597+74delTTAAAGTGAAGAAAATGTTGGC||||||,AAA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|NM_033656.3|protein_coding|33/40|c.3858+53_3858+74delTTAAAGTGAAGAAAATGTTGGC||||||;DP4=4,0,6,0;DP=12;FQ=61.4759;IDV=4;IMF=0.666667;INDEL;MQ0F=0;MQ=60;PV4=1,1,1,1;SF=0,1;SGB=-0.511536;VDB=0.102049 GT:PL:DP 0/1:137,0,96:5 0/1:137,0,96:5 chr21 39274304 . CGAGAGAGAGAGAGAGAGAGAGA CGAGAGAGAGAGAGAGAGAGA 59.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=CGAGAGAGAGAGAGAGAGAGA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|NM_018963.4|protein_coding|13/41|c.1244+48_1244+49delTC||||||,CGAGAGAGAGAGAGAGAGAGA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_011529612.2|protein_coding|6/34|c.404+48_404+49delTC||||||,CGAGAGAGAGAGAGAGAGAGA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_011529611.1|protein_coding|13/40|c.1244+48_1244+49delTC||||||,CGAGAGAGAGAGAGAGAGAGA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_017028373.1|protein_coding|14/42|c.983+48_983+49delTC||||||,CGAGAGAGAGAGAGAGAGAGA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|NM_033656.3|protein_coding|13/40|c.1244+48_1244+49delTC||||||,CGAGAGAGAGAGAGAGAGAGA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|XR_001754864.1|pseudogene|13/29|n.1572+48_1572+49delTC||||||,CGAGAGAGAGAGAGAGAGAGA|intron_variant|MODIFIER|BRWD1|BRWD1|transcript|XM_017028375.1|protein_coding|13/26|c.1244+48_1244+49delTC||||||;DP4=20,0,14,0;DP=38;FQ=62.4763;IDV=6;IMF=0.315789;INDEL;MQ0F=0;MQ=60;PV4=1,0.137446,1,0.275892;SF=0,1;SGB=-0.636426;VDB=0.0092758 GT:DP:PL 0/1:17:97,0,236 0/1:17:97,0,236 chr21 39345109 . TCACACACACACACACACACACACACACAC TCACACACACACACACACACACACAC 105.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=TCACACACACACACACACACACACAC|frameshift_variant|HIGH|HMGN1|HMGN1|transcript|XM_017028338.1|protein_coding|5/5|c.263_266delGTGT|p.Cys96fs|463/2432|263/321|88/106||,TCACACACACACACACACACACACAC|splice_region_variant&intron_variant|LOW|HMGN1|HMGN1|transcript|XM_011529543.1|protein_coding|8/8|c.146+8_146+11delGTGT||||||,TCACACACACACACACACACACACAC|splice_region_variant&intron_variant|LOW|HMGN1|HMGN1|transcript|XM_011529545.1|protein_coding|7/7|c.146+8_146+11delGTGT||||||,TCACACACACACACACACACACACAC|splice_region_variant&intron_variant|LOW|HMGN1|HMGN1|transcript|XM_011529547.1|protein_coding|5/5|c.146+8_146+11delGTGT||||||,TCACACACACACACACACACACACAC|splice_region_variant&intron_variant|LOW|HMGN1|HMGN1|transcript|XM_017028335.1|protein_coding|6/6|c.146+8_146+11delGTGT||||||,TCACACACACACACACACACACACAC|splice_region_variant&intron_variant|LOW|HMGN1|HMGN1|transcript|XM_017028334.1|protein_coding|7/7|c.146+8_146+11delGTGT||||||,TCACACACACACACACACACACACAC|splice_region_variant&intron_variant|LOW|HMGN1|HMGN1|transcript|XM_017028332.1|protein_coding|7/7|c.146+8_146+11delGTGT||||||,TCACACACACACACACACACACACAC|splice_region_variant&intron_variant|LOW|HMGN1|HMGN1|transcript|XM_011529544.1|protein_coding|7/7|c.146+8_146+11delGTGT||||||,TCACACACACACACACACACACACAC|splice_region_variant&intron_variant|LOW|HMGN1|HMGN1|transcript|XM_017028333.1|protein_coding|8/8|c.146+8_146+11delGTGT||||||,TCACACACACACACACACACACACAC|splice_region_variant&intron_variant|LOW|HMGN1|HMGN1|transcript|XM_017028336.1|protein_coding|7/7|c.146+8_146+11delGTGT||||||,TCACACACACACACACACACACACAC|splice_region_variant&intron_variant|LOW|HMGN1|HMGN1|transcript|XM_011529549.1|protein_coding|7/7|c.146+8_146+11delGTGT||||||,TCACACACACACACACACACACACAC|splice_region_variant&intron_variant|LOW|HMGN1|HMGN1|transcript|NM_004965.6|protein_coding|5/5|c.255+8_255+11delGTGT||||||,TCACACACACACACACACACACACAC|upstream_gene_variant|MODIFIER|LOC105372804|LOC105372804|transcript|XR_937718.2|lincRNA||n.-4781_-4778delACAC|||||4781|,TCACACACACACACACACACACACAC|upstream_gene_variant|MODIFIER|LOC105372804|LOC105372804|transcript|XR_937717.2|lincRNA||n.-4839_-4836delACAC|||||4839|;DP4=0,0,30,2;DP=44;FQ=-71.5254;IDV=16;IMF=0.727273;INDEL;LOF=(HMGN1|HMGN1|12|0.08);MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.689466;VDB=0.00024537 GT:DP:PL 1/1:16:255,146,109 1/1:16:255,146,109 chr21 39508954 . CTTGAATT CTT 184.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=CTT|intron_variant|MODIFIER|WRB-SH3BGR|WRB-SH3BGR|transcript|NM_001317744.1|protein_coding|6/8|c.697-41_697-37delGAATT||||||,CTT|intron_variant|MODIFIER|SH3BGR|SH3BGR|transcript|NM_007341.2|protein_coding|4/6|c.595-41_595-37delGAATT||||||,CTT|intron_variant|MODIFIER|SH3BGR|SH3BGR|transcript|NM_001317742.1|protein_coding|4/6|c.262-41_262-37delGAATT||||||,CTT|intron_variant|MODIFIER|SH3BGR|SH3BGR|transcript|NM_001001713.1|protein_coding|4/6|c.262-41_262-37delGAATT||||||,CTT|intron_variant|MODIFIER|SH3BGR|SH3BGR|transcript|NM_001317741.1|protein_coding|3/5|c.169-41_169-37delGAATT||||||,CTT|intron_variant|MODIFIER|SH3BGR|SH3BGR|transcript|NM_001317740.1|protein_coding|3/5|c.502-41_502-37delGAATT||||||;DP4=12,8,14,0;DP=46;FQ=187.476;IDV=9;IMF=0.391304;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=0.102941,0.0293886,1,1;SF=0,1;SGB=-0.636426;VDB=0.26206 GT:PL:DP 0/1:222,0,255:17 0/1:222,0,255:17 chr21 39511741 . AAGGAG AAGGAGGAG 85.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=AAGGAGGAG|disruptive_inframe_insertion|MODERATE|WRB-SH3BGR|WRB-SH3BGR|transcript|NM_001317744.1|protein_coding|8/9|c.791_793dupGAG|p.Gly264dup|935/1416|794/822|265/273||,AAGGAGGAG|disruptive_inframe_insertion|MODERATE|SH3BGR|SH3BGR|transcript|NM_007341.2|protein_coding|6/7|c.689_691dupGAG|p.Gly230dup|746/1227|692/720|231/239||,AAGGAGGAG|disruptive_inframe_insertion|MODERATE|SH3BGR|SH3BGR|transcript|NM_001317742.1|protein_coding|6/7|c.356_358dupGAG|p.Gly119dup|486/967|359/387|120/128||,AAGGAGGAG|disruptive_inframe_insertion|MODERATE|SH3BGR|SH3BGR|transcript|NM_001001713.1|protein_coding|6/7|c.356_358dupGAG|p.Gly119dup|517/998|359/387|120/128||,AAGGAGGAG|disruptive_inframe_insertion|MODERATE|SH3BGR|SH3BGR|transcript|NM_001317741.1|protein_coding|5/6|c.263_265dupGAG|p.Gly88dup|567/1048|266/294|89/97||,AAGGAGGAG|disruptive_inframe_insertion|MODERATE|SH3BGR|SH3BGR|transcript|NM_001317740.1|protein_coding|5/6|c.596_598dupGAG|p.Gly199dup|677/1158|599/627|200/208||;DP4=14,6,14,0;DP=50;FQ=88.4766;IDV=1;IMF=0.04;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=0.227941,0.0210715,1,1;SF=0,1;SGB=-0.636426;VDB=0.550689 GT:PL:DP 0/1:123,0,255:17 0/1:123,0,255:17 chr21 39511744 . GAGAAGA GAGAAGAAGA 217.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=GAGAAGAAGA|disruptive_inframe_insertion|MODERATE|WRB-SH3BGR|WRB-SH3BGR|transcript|NM_001317744.1|protein_coding|8/9|c.795_797dupAGA|p.Glu266dup|939/1416|798/822|266/273||,GAGAAGAAGA|disruptive_inframe_insertion|MODERATE|SH3BGR|SH3BGR|transcript|NM_007341.2|protein_coding|6/7|c.693_695dupAGA|p.Glu232dup|750/1227|696/720|232/239||,GAGAAGAAGA|disruptive_inframe_insertion|MODERATE|SH3BGR|SH3BGR|transcript|NM_001317742.1|protein_coding|6/7|c.360_362dupAGA|p.Glu121dup|490/967|363/387|121/128||,GAGAAGAAGA|disruptive_inframe_insertion|MODERATE|SH3BGR|SH3BGR|transcript|NM_001001713.1|protein_coding|6/7|c.360_362dupAGA|p.Glu121dup|521/998|363/387|121/128||,GAGAAGAAGA|disruptive_inframe_insertion|MODERATE|SH3BGR|SH3BGR|transcript|NM_001317741.1|protein_coding|5/6|c.267_269dupAGA|p.Glu90dup|571/1048|270/294|90/97||,GAGAAGAAGA|disruptive_inframe_insertion|MODERATE|SH3BGR|SH3BGR|transcript|NM_001317740.1|protein_coding|5/6|c.600_602dupAGA|p.Glu201dup|681/1158|603/627|201/208||;DP4=8,6,14,6;DP=50;FQ=217.468;IDV=10;IMF=0.4;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=0.643665,0.424709,1,1;SF=0,1;SGB=-0.670168;VDB=0.092224 GT:PL:DP 0/1:255,0,255:17 0/1:255,0,255:17 chr21 41442006 . AGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG 147.47 . AC1=2;AC=4;AF1=1;AN=4;ANN=AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|sequence_feature|LOW|MX1|MX1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001144925.2|protein_coding|12/18|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|sequence_feature|LOW|MX1|MX1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001282920.1|protein_coding|6/9|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|NM_001144925.2|protein_coding|12/18|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|XM_011529568.2|protein_coding|14/20|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|XM_017028349.1|protein_coding|12/18|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|XM_005260979.2|protein_coding|10/16|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|XM_017028350.1|protein_coding|10/16|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|NM_001178046.2|protein_coding|8/14|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|NM_002462.4|protein_coding|10/16|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|XM_017028351.1|protein_coding|10/15|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|XM_005260980.2|protein_coding|10/16|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|XM_005260981.2|protein_coding|9/15|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|XM_005260982.2|protein_coding|9/15|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|XM_005260978.4|protein_coding|10/16|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|XM_017028352.1|protein_coding|10/15|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|XM_011529570.2|protein_coding|6/9|c.929+106_929+111dupTGTGTG||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTG|intron_variant|MODIFIER|MX1|MX1|transcript|NM_001282920.1|protein_coding|6/9|c.929+106_929+111dupTGTGTG||||||;DP4=0,0,2,24;DP=54;FQ=-64.5253;IDV=13;IMF=0.481481;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.683931;VDB=0.0248954 GT:PL:DP 1/1:255,97,67:13 1/1:255,97,67:13 chr21 41476633 rs140530035 CAG C 214.47 . AC1=2;AC=4;AF1=1;AN=4;ANN=C|intron_variant|MODIFIER|TMPRSS2|TMPRSS2|transcript|NM_001135099.1|protein_coding|7/13|c.795-15_795-14delCT||||||,C|intron_variant|MODIFIER|TMPRSS2|TMPRSS2|transcript|XM_011529733.1|protein_coding|5/11|c.360-15_360-14delCT||||||,C|intron_variant|MODIFIER|TMPRSS2|TMPRSS2|transcript|NM_005656.3|protein_coding|7/13|c.684-15_684-14delCT||||||,C|intron_variant|MODIFIER|TMPRSS2|TMPRSS2|transcript|XM_005261043.2|protein_coding|6/12|c.564-15_564-14delCT||||||,C|intron_variant|MODIFIER|TMPRSS2|TMPRSS2|transcript|XM_011529731.2|protein_coding|7/13|c.684-15_684-14delCT||||||,C|intron_variant|MODIFIER|TMPRSS2|TMPRSS2|transcript|XM_011529732.2|protein_coding|6/10|c.684-15_684-14delCT||||||;ASP;CAF=0.1867,0.8133;COMMON=1;DP4=0,0,10,10;DP=24;FQ=-64.5253;G5;GENEINFO=TMPRSS2:7113;GNO;IDV=12;IMF=1;INDEL;INT;KGPhase3;MQ0F=0;MQ=60;MQSB=0.952347;RS=140530035;RSPOS=41476634;SAO=0;SF=0,1;SGB=-0.670168;SLO;SSR=0;TOPMED=0.127859,0.872141;VC=DIV;VDB=0.0551501;VLD;VP=0x05010008000515012e000200;WGT=1;dbSNPBuildID=134 GT:PL:DP 1/1:255,30,0:10 1/1:255,30,0:10 chr21 41837779 . AGCTCCAGAACATTCCTGC A 132.47 . AC1=1;AC=2;AF1=0.500199;AN=4;ANN=A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|NM_022115.4|protein_coding|15/30|c.2099+137_2099+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|NR_104260.1|pseudogene|8/25|n.1078+137_1078+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_011529679.2|protein_coding|8/24|c.1001+137_1001+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_011529677.2|protein_coding|8/24|c.1001+137_1001+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_017028426.1|protein_coding|8/23|c.1001+137_1001+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_011529676.2|protein_coding|8/24|c.1001+137_1001+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_011529678.2|protein_coding|8/24|c.1001+137_1001+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_011529681.2|protein_coding|8/24|c.1013+137_1013+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_017028425.1|protein_coding|8/23|c.1001+137_1001+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_011529675.1|protein_coding|8/24|c.1001+137_1001+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XR_001754886.1|pseudogene|8/25|n.1112+137_1112+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XR_001754887.1|pseudogene|8/26|n.1112+137_1112+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_006724039.2|protein_coding|8/23|c.1112+137_1112+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_006724040.2|protein_coding|8/22|c.1112+137_1112+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_011529674.1|protein_coding|7/23|c.1010+137_1010+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XM_011529683.1|protein_coding|14/29|c.1901+137_1901+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|NM_001040424.2|protein_coding|8/23|c.1112+137_1112+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|NM_001282934.1|protein_coding|8/24|c.1112+137_1112+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|NR_104257.1|pseudogene|8/24|n.1223+137_1223+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|NR_104258.1|pseudogene|8/23|n.1223+137_1223+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|NR_135464.1|pseudogene|8/25|n.1219+137_1219+154delGCAGGAATGTTCTGGAGC||||||,A|intron_variant|MODIFIER|PRDM15|PRDM15|transcript|XR_937542.1|pseudogene|8/22|n.1137+137_1137+154delGCAGGAATGTTCTGGAGC||||||;DP4=4,0,8,0;DP=12;FQ=-5.12076;IDV=1;IMF=0.166667;INDEL;MQ0F=0;MQ=60;PV4=1,1,1,1;SF=0,1;SGB=-0.556411;VDB=0.168702 GT:PL:DP 0/1:170,0,31:6 0/1:170,0,31:6 chr21 41857170 . CTTT CTTTT 118.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|NM_022115.4|protein_coding|11/30|c.1383+2_1383+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|NR_104260.1|pseudogene|4/25|n.362+2_362+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_011529679.2|protein_coding|4/24|c.285+2_285+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_011529677.2|protein_coding|4/24|c.285+2_285+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_017028426.1|protein_coding|4/23|c.285+2_285+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_011529676.2|protein_coding|4/24|c.285+2_285+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_011529678.2|protein_coding|4/24|c.285+2_285+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_011529681.2|protein_coding|4/24|c.297+2_297+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_017028425.1|protein_coding|4/23|c.285+2_285+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_011529675.1|protein_coding|4/24|c.285+2_285+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XR_001754886.1|pseudogene|4/25|n.396+2_396+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XR_001754887.1|pseudogene|4/26|n.396+2_396+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_006724039.2|protein_coding|4/23|c.396+2_396+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_006724040.2|protein_coding|4/22|c.396+2_396+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_011529674.1|protein_coding|4/23|c.396+2_396+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XM_011529683.1|protein_coding|10/29|c.1185+2_1185+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|NM_001040424.2|protein_coding|4/23|c.396+2_396+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|NM_001282934.1|protein_coding|4/24|c.396+2_396+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|NR_104257.1|pseudogene|4/24|n.507+2_507+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|NR_104258.1|pseudogene|4/23|n.507+2_507+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|NR_135464.1|pseudogene|4/25|n.503+2_503+3insA||||||,CTTTT|splice_donor_variant&intron_variant|HIGH|PRDM15|PRDM15|transcript|XR_937542.1|pseudogene|4/22|n.421+2_421+3insA||||||;DP4=12,4,14,4;DP=50;FQ=87.4749;IDV=13;IMF=0.52;INDEL;LOF=(PRDM15|PRDM15|22|0.68);MQ0F=0;MQ=60;MQSB=1;PV4=1,1,1,0.0617644;SF=0,1;SGB=-0.662043;VDB=0.139981 GT:PL:DP 0/1:156,0,122:17 0/1:156,0,122:17 chr21 41905633 . CAAA CAA 63.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=CAA|intron_variant|MODIFIER|C2CD2|C2CD2|transcript|XM_011529522.1|protein_coding|11/13|c.1465+88delT||||||,CAA|intron_variant|MODIFIER|C2CD2|C2CD2|transcript|XM_017028315.1|protein_coding|8/10|c.811+88delT||||||,CAA|intron_variant|MODIFIER|C2CD2|C2CD2|transcript|NM_199050.2|protein_coding|10/12|c.967+88delT||||||,CAA|intron_variant|MODIFIER|C2CD2|C2CD2|transcript|NM_015500.1|protein_coding|11/13|c.1432+88delT||||||,CAA|intron_variant|MODIFIER|C2CD2|C2CD2|transcript|XM_005261109.4|protein_coding|10/12|c.967+88delT||||||,CAA|intron_variant|MODIFIER|C2CD2|C2CD2|transcript|XM_011529523.2|protein_coding|12/14|c.1192+88delT||||||,CAA|intron_variant|MODIFIER|C2CD2|C2CD2|transcript|XM_011529524.2|protein_coding|11/12|c.1465+88delT||||||;DP4=16,4,10,2;DP=32;FQ=66.4763;IDV=6;IMF=0.375;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=1,0.0371904,1,1;SF=0,1;SGB=-0.616816;VDB=0.138479 GT:DP:PL 0/1:16:101,0,162 0/1:16:101,0,162 chr21 42288321 . GCCC GCCCC 115.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=GCCCC|intron_variant|MODIFIER|ABCG1|ABCG1|transcript|XM_011529806.1|protein_coding|10/14|c.1293+12dupC||||||,GCCCC|intron_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_207627.1|protein_coding|11/15|c.1230+12dupC||||||,GCCCC|intron_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_207628.1|protein_coding|12/16|c.1158+12dupC||||||,GCCCC|intron_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_207629.1|protein_coding|10/14|c.1215+12dupC||||||,GCCCC|intron_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_004915.3|protein_coding|10/14|c.1260+12dupC||||||,GCCCC|intron_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_016818.2|protein_coding|10/14|c.1224+12dupC||||||,GCCCC|intron_variant|MODIFIER|ABCG1|ABCG1|transcript|XM_011529807.2|protein_coding|10/14|c.1293+12dupC||||||,GCCCC|intron_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_207174.1|protein_coding|10/14|c.1257+12dupC||||||;DP4=8,12,10,8;DP=54;FQ=117.962;IDV=12;IMF=0.444444;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=0.656282,1,1,1;SF=0,1;SGB=-0.662043;VDB=0.0854589 GT:PL:DP 0/1:153,0,162:19 0/1:153,0,162:19 chr21 42300402 . CATA CA 91.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=CA|3_prime_UTR_variant|MODIFIER|ABCG1|ABCG1|transcript|XM_011529806.1|protein_coding|15/15|c.*4012_*4013delTA|||||4012|,CA|3_prime_UTR_variant|MODIFIER|ABCG1|ABCG1|transcript|XM_011529807.2|protein_coding|15/15|c.*4178_*4179delTA|||||4178|,CA|downstream_gene_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_207627.1|protein_coding||c.*4012_*4013delTA|||||3160|,CA|downstream_gene_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_207628.1|protein_coding||c.*4012_*4013delTA|||||3160|,CA|downstream_gene_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_207629.1|protein_coding||c.*4012_*4013delTA|||||3160|,CA|downstream_gene_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_004915.3|protein_coding||c.*4012_*4013delTA|||||3160|,CA|downstream_gene_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_016818.2|protein_coding||c.*4012_*4013delTA|||||3160|,CA|downstream_gene_variant|MODIFIER|ABCG1|ABCG1|transcript|NM_207174.1|protein_coding||c.*4012_*4013delTA|||||3160|;DP4=28,0,10,0;DP=42;FQ=94.4767;IDV=4;IMF=0.173913;INDEL;MQ0F=0;MQ=60;PV4=1,0.00494663,1,0.413194;SF=0,1;SGB=-0.590765;VDB=0.228785 GT:PL:DP 0/1:129,0,255:19 0/1:129,0,255:19 chr21 42346463 . TAAG TAAGAAG 155.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=TAAGAAG|3_prime_UTR_variant|MODIFIER|TFF2|TFF2|transcript|NM_005423.4|protein_coding|4/4|c.*66_*67insCTT|||||66|,TAAGAAG|upstream_gene_variant|MODIFIER|LOC105372815|LOC105372815|transcript|XR_001755064.1|lincRNA||n.-4755_-4753dupAAG|||||4752|,TAAGAAG|upstream_gene_variant|MODIFIER|LOC105372815|LOC105372815|transcript|XR_937754.2|lincRNA||n.-4755_-4753dupAAG|||||4752|,TAAGAAG|upstream_gene_variant|MODIFIER|LOC105372815|LOC105372815|transcript|XR_001755065.1|lincRNA||n.-4755_-4753dupAAG|||||4752|,TAAGAAG|upstream_gene_variant|MODIFIER|LOC105372815|LOC105372815|transcript|XR_001755066.1|lincRNA||n.-4755_-4753dupAAG|||||4752|,TAAGAAG|upstream_gene_variant|MODIFIER|LOC105372815|LOC105372815|transcript|XR_001755067.1|lincRNA||n.-4755_-4753dupAAG|||||4752|,TAAGAAG|upstream_gene_variant|MODIFIER|LOC105372815|LOC105372815|transcript|XR_937750.2|lincRNA||n.-4755_-4753dupAAG|||||4752|,TAAGAAG|upstream_gene_variant|MODIFIER|LOC105372815|LOC105372815|transcript|XR_937755.2|lincRNA||n.-4755_-4753dupAAG|||||4752|;DP4=6,2,8,2;DP=20;FQ=131.469;IDV=5;IMF=0.5;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=1,1,1,0.457901;SF=0,1;SGB=-0.590765;VDB=0.0506918 GT:PL:DP 0/1:193,0,166:9 0/1:193,0,166:9 chr21 42539798 . TCCC TCC 89.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=TCC|upstream_gene_variant|MODIFIER|LOC107987299|LOC107987299|transcript|XR_001755068.1|lincRNA||n.-4336delG|||||4336|,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|XM_011529614.2|protein_coding|5/17|c.579+154delC||||||,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|NM_018964.3|protein_coding|7/20|c.486+154delC||||||,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|XM_017028379.1|protein_coding|8/21|c.486+154delC||||||,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|XM_017028377.1|protein_coding|7/20|c.486+154delC||||||,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|XM_017028381.1|protein_coding|7/19|c.486+154delC||||||,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|NM_001320537.1|protein_coding|6/19|c.486+154delC||||||,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|XM_017028380.1|protein_coding|6/19|c.486+154delC||||||,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|XM_017028383.1|protein_coding|7/13|c.486+154delC||||||,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|XM_017028378.1|protein_coding|7/20|c.486+154delC||||||,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|XM_011529615.1|protein_coding|5/18|c.579+154delC||||||,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|XM_017028376.1|protein_coding|5/17|c.579+154delC||||||,TCC|intron_variant|MODIFIER|SLC37A1|SLC37A1|transcript|XM_017028382.1|protein_coding|5/18|c.408+154delC||||||;DP4=0,22,2,16;DP=44;FQ=90.7123;IDV=9;IMF=0.409091;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=0.45,0.000648812,1,1;SF=0,1;SGB=-0.662043;VDB=0.0744217 GT:DP:PL 0/1:20:127,0,130 0/1:20:127,0,130 chr21 42760756 rs398061782 ACCCCCCC ACCCCC,ACCCCCC 60.52 . AC1=2;AC=4,0;AF1=1;AN=4;ANN=ACCCCC|downstream_gene_variant|MODIFIER|PDE9A|PDE9A|transcript|XM_017028367.1|protein_coding||c.*5488_*5489delCC|||||3386|,ACCCCCC|downstream_gene_variant|MODIFIER|PDE9A|PDE9A|transcript|XM_017028367.1|protein_coding||c.*5489delC|||||3387|,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_002606.2|protein_coding|12/19|c.1003-63_1003-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_002606.2|protein_coding|12/19|c.1003-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001567.1|protein_coding|11/18|c.823-63_823-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001567.1|protein_coding|11/18|c.823-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001568.1|protein_coding|9/16|c.622-63_622-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001568.1|protein_coding|9/16|c.622-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001569.1|protein_coding|8/15|c.619-63_619-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001569.1|protein_coding|8/15|c.619-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001570.1|protein_coding|11/18|c.844-63_844-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001570.1|protein_coding|11/18|c.844-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001571.1|protein_coding|10/17|c.700-63_700-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001571.1|protein_coding|10/17|c.700-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001572.1|protein_coding|8/15|c.382-63_382-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001572.1|protein_coding|8/15|c.382-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001573.1|protein_coding|9/16|c.382-63_382-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001573.1|protein_coding|9/16|c.382-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001574.1|protein_coding|10/17|c.745-63_745-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001574.1|protein_coding|10/17|c.745-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001575.1|protein_coding|7/14|c.523-63_523-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001575.1|protein_coding|7/14|c.523-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001576.1|protein_coding|7/14|c.352-63_352-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001576.1|protein_coding|7/14|c.352-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001577.1|protein_coding|8/15|c.601-63_601-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001577.1|protein_coding|8/15|c.601-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001578.1|protein_coding|9/16|c.697-63_697-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001578.1|protein_coding|9/16|c.697-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001579.1|protein_coding|9/16|c.382-63_382-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001579.1|protein_coding|9/16|c.382-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001580.1|protein_coding|6/13|c.352-63_352-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001580.1|protein_coding|6/13|c.352-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001581.1|protein_coding|10/17|c.802-63_802-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001581.1|protein_coding|10/17|c.802-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001582.1|protein_coding|11/18|c.880-63_880-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001582.1|protein_coding|11/18|c.880-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001583.1|protein_coding|11/18|c.925-63_925-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001583.1|protein_coding|11/18|c.925-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001584.2|protein_coding|10/17|c.382-63_382-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001584.2|protein_coding|10/17|c.382-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001585.1|protein_coding|10/17|c.382-63_382-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001585.1|protein_coding|10/17|c.382-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001315533.1|protein_coding|12/19|c.679-63_679-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001315533.1|protein_coding|12/19|c.679-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|XM_011529600.2|protein_coding|12/16|c.1003-63_1003-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|XM_011529600.2|protein_coding|12/16|c.1003-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|XM_017028366.1|protein_coding|10/17|c.382-63_382-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|XM_017028366.1|protein_coding|10/17|c.382-62delC||||||,ACCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|XM_011529598.2|protein_coding|12/19|c.859-63_859-62delCC||||||,ACCCCCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|XM_011529598.2|protein_coding|12/19|c.859-62delC||||||;ASP;DP4=0,0,26,0;DP=32;FQ=-55.5252;GENEINFO=PDE9A:5152;GNO;IDV=16;IMF=1;INDEL;INT;MQ0F=0;MQ=60;NOC;RS=398061782;RSPOS=42760762;SAO=0;SF=0,1;SGB=-0.683931;SLO;SSR=0;VC=DIV;VDB=0.0083064;VP=0x050100080005000102000210;WGT=1;dbSNPBuildID=138 GT:DP:PL 1/1:13:126,46,25,112,0,94 1/1:13:126,46,25,112,0,94 chr21 42768139 . GCCC GCC 160.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_002606.2|protein_coding|15/19|c.1357-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001567.1|protein_coding|14/18|c.1177-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001568.1|protein_coding|12/16|c.976-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001569.1|protein_coding|11/15|c.973-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001570.1|protein_coding|14/18|c.1198-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001571.1|protein_coding|13/17|c.1054-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001572.1|protein_coding|11/15|c.736-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001573.1|protein_coding|12/16|c.736-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001574.1|protein_coding|13/17|c.1099-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001575.1|protein_coding|10/14|c.877-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001576.1|protein_coding|10/14|c.706-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001577.1|protein_coding|11/15|c.955-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001578.1|protein_coding|12/16|c.1051-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001579.1|protein_coding|12/16|c.736-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001580.1|protein_coding|9/13|c.706-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001581.1|protein_coding|13/17|c.1156-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001582.1|protein_coding|14/18|c.1234-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001583.1|protein_coding|14/18|c.1279-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001584.2|protein_coding|13/17|c.736-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001001585.1|protein_coding|13/17|c.736-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|NM_001315533.1|protein_coding|15/19|c.1033-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|XM_011529600.2|protein_coding|16/16|c.*26-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|XM_017028366.1|protein_coding|13/17|c.736-46delC||||||,GCC|intron_variant|MODIFIER|PDE9A|PDE9A|transcript|XM_011529598.2|protein_coding|15/19|c.1213-46delC||||||;DP4=12,8,26,8;DP=70;FQ=114.477;IDV=22;IMF=0.628571;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=0.414668,0.0880925,1,1;SF=0,1;SGB=-0.690438;VDB=0.448931 GT:PL:DP 0/1:198,0,149:27 0/1:198,0,149:27 chr21 43262694 . GGTGGGAGTG GGTG 45.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=GGTG|intergenic_region|MODIFIER|LOC105372821-LINC00322|LOC105372821-LINC00322|intergenic_region|LOC105372821-LINC00322|||n.43262698_43262703delGGAGTG||||||;DP4=2,4,4,2;DP=28;FQ=48.4761;IDV=2;IMF=0.142857;INDEL;MQ0F=0;MQ=51;MQSB=0.861511;PV4=1,0.475338,0.0580583,0.09559;SF=0,1;SGB=-0.511536;VDB=0.19611 GT:PL:DP 0/1:83,0,136:6 0/1:83,0,136:6 chr21 43904065 . AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 157.53 . AC1=2;AC=4;AF1=1;AN=4;ANN=AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|AGPAT3|AGPAT3|transcript|XM_006724031.3|protein_coding|1/8|c.-123+38755_-123+38758delGTGT||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|AGPAT3|AGPAT3|transcript|XM_017028409.1|protein_coding|1/8|c.-49+38755_-49+38758delGTGT||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|AGPAT3|AGPAT3|transcript|XM_017028412.1|protein_coding|2/9|c.-1155+81_-1155+84delGTGT||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|AGPAT3|AGPAT3|transcript|XM_017028413.1|protein_coding|2/9|c.-123+81_-123+84delGTGT||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|AGPAT3|AGPAT3|transcript|NM_020132.4|protein_coding|2/9|c.-49+81_-49+84delGTGT||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|AGPAT3|AGPAT3|transcript|XM_011529665.2|protein_coding|3/10|c.-49+81_-49+84delGTGT||||||,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|AGPAT3|AGPAT3|transcript|XM_005261160.4|protein_coding|2/9|c.-49+81_-49+84delGTGT||||||;DP4=0,0,6,18;DP=38;FQ=-55.5252;IDV=15;IMF=0.789474;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.680642;VDB=3.16013e-05 GT:DP:PL 1/1:12:255,78,57 1/1:12:255,78,57 chr21 44094260 . TGGGGG TGGGG 86.47 . AC1=2;AC=4;AF1=1;AN=4;ANN=TGGGG|downstream_gene_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XR_001754895.1|pseudogene||n.*4366delG|||||4366|,TGGGG|downstream_gene_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XR_001754896.1|pseudogene||n.*105delG|||||105|,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529714.2|protein_coding|21/23|c.3279+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|NM_003274.4|protein_coding|20/22|c.3168+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529725.2|protein_coding|20/20|c.*38+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529720.2|protein_coding|21/22|c.3279+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529717.2|protein_coding|21/21|c.3279+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529718.2|protein_coding|21/22|c.3279+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529726.2|protein_coding|20/20|c.*38+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_017028454.1|protein_coding|19/21|c.3021+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_005261168.4|protein_coding|20/22|c.3045+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529715.2|protein_coding|21/23|c.3156+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529716.2|protein_coding|20/22|c.3132+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529719.2|protein_coding|19/21|c.2835+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XR_001754893.1|pseudogene|20/22|n.3314+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XR_937558.2|pseudogene|21/22|n.3441+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529728.2|protein_coding|18/20|c.2301+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529721.2|protein_coding|18/20|c.2712+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529723.2|protein_coding|17/19|c.2577+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529729.2|protein_coding|17/19|c.2265+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529722.2|protein_coding|18/20|c.2667+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_011529727.2|protein_coding|17/19|c.2412+32delG||||||,TGGGG|intron_variant|MODIFIER|TRAPPC10|TRAPPC10|transcript|XM_017028455.1|protein_coding|13/15|c.1767+32delG||||||;DP4=0,0,6,14;DP=28;FQ=-64.5253;IDV=12;IMF=0.857143;INDEL;MQ0F=0;MQ=60;MQSB=0.916482;SF=0,1;SGB=-0.670168;VDB=0.0682888 GT:DP:PL 1/1:10:127,30,0 1/1:10:127,30,0 chr21 44254827 . TTTGTTGTTGTTGTT TTTGTTGTTGTT 106.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=TTTGTTGTTGTT|downstream_gene_variant|MODIFIER|LOC105372833|LOC105372833|transcript|NR_135514.1|lincRNA||n.*3318_*3320delGTT|||||3318|,TTTGTTGTTGTT|intron_variant|MODIFIER|DNMT3L|DNMT3L|transcript|NM_013369.3|protein_coding|7/11|c.605-136_605-134delAAC||||||,TTTGTTGTTGTT|intron_variant|MODIFIER|DNMT3L|DNMT3L|transcript|NM_175867.2|protein_coding|7/11|c.605-136_605-134delAAC||||||;DP4=0,4,2,4;DP=16;FQ=61.4762;IDV=3;IMF=0.375;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=1,0.0300702,1,1;SF=0,1;SGB=-0.511536;VDB=0.361837 GT:PL:DP 0/1:144,0,96:5 0/1:144,0,96:5 chr21 44369128 . AGG AGGG 157.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=AGGG|intron_variant|MODIFIER|TRPM2|TRPM2|transcript|NM_001320350.1|protein_coding|4/32|c.605-47dupG||||||,AGGG|intron_variant|MODIFIER|TRPM2|TRPM2|transcript|XM_017028456.1|protein_coding|5/33|c.605-47dupG||||||,AGGG|intron_variant|MODIFIER|TRPM2|TRPM2|transcript|XM_005261171.3|protein_coding|5/32|c.605-47dupG||||||,AGGG|intron_variant|MODIFIER|TRPM2|TRPM2|transcript|XR_001754900.1|pseudogene|4/33|n.1113-47dupG||||||,AGGG|intron_variant|MODIFIER|TRPM2|TRPM2|transcript|XR_001754901.1|pseudogene|4/32|n.1113-47dupG||||||,AGGG|intron_variant|MODIFIER|TRPM2|TRPM2|transcript|XR_001754902.1|pseudogene|4/27|n.1111-47dupG||||||,AGGG|intron_variant|MODIFIER|TRPM2|TRPM2|transcript|XM_017028457.1|protein_coding|4/31|c.605-47dupG||||||,AGGG|intron_variant|MODIFIER|TRPM2|TRPM2|transcript|XM_011529736.2|protein_coding|4/32|c.605-47dupG||||||,AGGG|intron_variant|MODIFIER|TRPM2|TRPM2|transcript|NM_001320351.1|protein_coding|4/30|c.605-47dupG||||||,AGGG|intron_variant|MODIFIER|TRPM2|TRPM2|transcript|NM_003307.3|protein_coding|4/31|c.605-47dupG||||||,AGGG|intron_variant|MODIFIER|TRPM2|TRPM2|transcript|NR_038257.1|pseudogene|4/31|n.705-47dupG||||||;DP4=0,0,30,0;DP=32;FQ=-79.5255;IDV=16;IMF=1;INDEL;MQ0F=0;MQ=60;SF=0,1;SGB=-0.688148;VDB=0.0889763 GT:PL:DP 1/1:198,45,0:15 1/1:198,45,0:15 chr21 44550876 . ACTTGCAGCAGACAGGCTTGCAGCAGAC ACTTGCAGCAGAC 217.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=ACTTGCAGCAGAC|conservative_inframe_deletion|MODERATE|KRTAP10-2|KRTAP10-2|transcript|NM_198693.3|protein_coding|1/1|c.556_570delGTCTGCTGCAAGCCT|p.Val186_Pro190del|617/1149|556/768|186/255||,ACTTGCAGCAGAC|sequence_feature|LOW|KRTAP10-2|KRTAP10-2|repeat:17|NM_198693.3|protein_coding|1/1|c.556_570delGTCTGCTGCAAGCCT||||||,ACTTGCAGCAGAC|intron_variant|MODIFIER|TSPEAR|TSPEAR|transcript|NM_144991.2|protein_coding|2/11|c.303+16882_303+16896delGTCTGCTGCAAGCCT||||||,ACTTGCAGCAGAC|intron_variant|MODIFIER|TSPEAR|TSPEAR|transcript|NM_001272037.1|protein_coding|3/12|c.99+16882_99+16896delGTCTGCTGCAAGCCT||||||,ACTTGCAGCAGAC|intron_variant|MODIFIER|KRTAP10-2|KRTAP10-2|transcript|NR_130165.1|pseudogene|1/1|n.127-229_127-215delGTCTGCTGCAAGCCT||||||;DP4=44,30,26,10;DP=136;FQ=217.468;IDV=17;IMF=0.25;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=0.39053,1,1,1;SF=0,1;SGB=-0.691153;VDB=0.00230774 GT:PL:DP 0/1:255,0,255:55 0/1:255,0,255:55 chr21 44551497 . AGTGAGTGAGTGTGTGTGTGAGTGTGTGAGTGAGTGTGTG AGTGAGTGAGTGTGTGAGTGAGTGTGTGTGTGAGTGTGTGAGTGAGTGTGTG 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=AGTGAGTGAGTGTGTGAGTGAGTGTGTGTGTGAGTGTGTGAGTGAGTGTGTG|upstream_gene_variant|MODIFIER|KRTAP10-2|KRTAP10-2|transcript|NM_198693.3|protein_coding||c.-55_-54insCACACACTCACT|||||8|,AGTGAGTGAGTGTGTGAGTGAGTGTGTGTGTGAGTGTGTGAGTGAGTGTGTG|upstream_gene_variant|MODIFIER|KRTAP10-2|KRTAP10-2|transcript|NR_130165.1|pseudogene||n.-8_-7insCACACACTCACT|||||8|,AGTGAGTGAGTGTGTGAGTGAGTGTGTGTGTGAGTGTGTGAGTGAGTGTGTG|intron_variant|MODIFIER|TSPEAR|TSPEAR|transcript|NM_144991.2|protein_coding|2/11|c.303+16272_303+16273insCACACACTCACT||||||,AGTGAGTGAGTGTGTGAGTGAGTGTGTGTGTGAGTGTGTGAGTGAGTGTGTG|intron_variant|MODIFIER|TSPEAR|TSPEAR|transcript|NM_001272037.1|protein_coding|3/12|c.99+16272_99+16273insCACACACTCACT||||||;DP4=0,2,4,28;DP=90;FQ=-70.5254;IDV=6;IMF=0.133333;INDEL;MQ0F=0;MQ=48;MQSB=0.966667;PV4=1,1,0.117871,1;SF=0,1;SGB=-0.689466;VDB=0.0153938 GT:PL:DP 1/1:255,36,0:17 1/1:255,36,0:17 chr21 45476687 rs75692972 CAT C 88.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=C|upstream_gene_variant|MODIFIER|MIR6815|MIR6815|transcript|NR_106873.1|pseudogene||n.-1578_-1577delAT|||||1578|,C|upstream_gene_variant|MODIFIER|MIR6815|MIR6815|transcript|rna146238|lincRNA||n.-1583_-1582delAT|||||1583|,C|upstream_gene_variant|MODIFIER|MIR6815|MIR6815|transcript|rna146239|lincRNA||n.-1618_-1617delAT|||||1618|,C|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130444.2|protein_coding|5/40|c.2173+208_2173+209delAT||||||,C|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130445.3|protein_coding|6/41|c.928+208_928+209delAT||||||,C|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_030582.3|protein_coding|5/40|c.1468+208_1468+209delAT||||||;ASP;CAF=0.8055,0.1945;COMMON=1;DP4=2,4,0,6;DP=12;FQ=77.3069;G5;G5A;GENEINFO=COL18A1:80781|MIR6815:102465489;IDV=2;IMF=0.333333;INDEL;INT;KGPhase1;KGPhase3;MQ0F=0;MQ=60;MQSB=1;PV4=1,1,1,0.243066;R5;RS=75692972;RSPOS=45476688;SAO=0;SF=0,1;SGB=-0.511536;SSR=0;TOPMED=0.802514,0.197486;VC=DIV;VDB=0.749879;VLD;VP=0x0500000a000517003e000200;WGT=1;dbSNPBuildID=131 GT:PL:DP 0/1:126,0,112:6 0/1:126,0,112:6 chr21 45490740 . TAAAGAA TAA 94.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=TAA|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130444.2|protein_coding|19/40|c.3277-93_3277-90delAGAA||||||,TAA|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130445.3|protein_coding|20/41|c.2032-93_2032-90delAGAA||||||,TAA|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_030582.3|protein_coding|19/40|c.2572-93_2572-90delAGAA||||||;DP4=8,0,6,0;DP=16;FQ=97.4754;IDV=4;IMF=0.5;INDEL;MQ0F=0;MQ=60;PV4=1,0.00492429,1,1;SF=0,1;SGB=-0.511536;VDB=0.159342 GT:PL:DP 0/1:132,0,167:7 0/1:132,0,167:7 chr21 45492744 rs11267376 GCCCG GCCCGCCACTGCCCTCCCG 67.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=GCCCGCCACTGCCCTCCCG|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130444.2|protein_coding|23/40|c.3459+35_3459+36insCCACTGCCCTCCCG||||||,GCCCGCCACTGCCCTCCCG|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130445.3|protein_coding|24/41|c.2214+35_2214+36insCCACTGCCCTCCCG||||||,GCCCGCCACTGCCCTCCCG|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_030582.3|protein_coding|23/40|c.2754+35_2754+36insCCACTGCCCTCCCG||||||;ASP;DP4=4,2,2,2;DP=12;FQ=70.4763;GENEINFO=COL18A1:80781;IDV=2;IMF=0.333333;INDEL;INT;MQ0F=0;MQ=60;MQSB=1;NOV;PM;PMC;PV4=1,0.460297,1,1;RS=11267376;RSPOS=45492748;SAO=0;SF=0,1;SGB=-0.453602;SSR=0;VC=DIV;VDB=0.22001;VP=0x050028080005000002000204;WGT=1;dbSNPBuildID=130 GT:PL:DP 0/1:105,0,155:5 0/1:105,0,155:5 chr21 45495607 rs3028017 C CACAT 214.47 . AC1=2;AC=4;AF1=1;AN=4;ANN=CACAT|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130444.2|protein_coding|28/40|c.3753+175_3753+176insACAT||||||,CACAT|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130445.3|protein_coding|29/41|c.2508+175_2508+176insACAT||||||,CACAT|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_030582.3|protein_coding|28/40|c.3048+175_3048+176insACAT||||||;ASP;CAF=0.1579,0.8421;COMMON=1;DP4=0,0,10,8;DP=18;FQ=-61.5253;G5;GENEINFO=COL18A1:80781;IDV=8;IMF=0.888889;INDEL;INT;KGPhase3;MQ0F=0;MQ=60;MQSB=0.974597;RS=3028017;RSPOS=45495607;SAO=0;SF=0,1;SGB=-0.662043;SLO;SSR=0;VC=DIV;VDB=0.285163;VLD;VP=0x05010008000515002e000200;WGT=1;dbSNPBuildID=102 GT:PL:DP 1/1:255,27,0:9 1/1:255,27,0:9 chr21 45511045 rs147164507 CA C 101.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529696.2|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_017028444.1|protein_coding||c.*3930delT|||||1521|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_017028446.1|protein_coding||c.*3930delT|||||1521|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|NM_001205207.1|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529706.2|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529698.2|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529703.2|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529704.2|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529702.2|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_005261164.3|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|NM_001205206.1|protein_coding||c.*3930delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|NM_194255.2|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_017028443.1|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529701.2|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529709.2|protein_coding||c.*4612delT|||||3669|,C|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529700.2|protein_coding||c.*4612delT|||||3669|,C|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130444.2|protein_coding|39/40|c.4939-65delA||||||,C|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130445.3|protein_coding|40/41|c.3694-65delA||||||,C|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_030582.3|protein_coding|39/40|c.4234-65delA||||||,C|intron_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_017028445.1|protein_coding|6/6|c.1585-8077delT||||||;ASP;CAF=0.3672,0.6328;COMMON=1;DP4=8,0,8,2;DP=20;FQ=62.476;G5;G5A;GENEINFO=COL18A1:80781|SLC19A1:6573;IDV=3;IMF=0.3;INDEL;INT;KGPhase1;KGPhase3;MQ0F=0;MQ=60;MQSB=1;PV4=1,1,1,0.0219577;RS=147164507;RSPOS=45511046;SAO=0;SF=0,1;SGB=-0.590765;SSR=0;VC=DIV;VDB=0.0082893;VLD;VP=0x05000008000517003e000200;WGT=1;dbSNPBuildID=134 GT:DP:PL 0/1:9:139,0,97 0/1:9:139,0,97 chr21 45511090 rs58188320 TACACAC TACACACAC 197.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529696.2|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_017028444.1|protein_coding||c.*3879_*3880insGT|||||1470|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_017028446.1|protein_coding||c.*3879_*3880insGT|||||1470|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|NM_001205207.1|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529706.2|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529698.2|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529703.2|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529704.2|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529702.2|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_005261164.3|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|NM_001205206.1|protein_coding||c.*3879_*3880insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|NM_194255.2|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_017028443.1|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529701.2|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529709.2|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|downstream_gene_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_011529700.2|protein_coding||c.*4561_*4562insGT|||||3618|,TACACACAC|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130444.2|protein_coding|39/40|c.4939-16_4939-15dupAC||||||,TACACACAC|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_130445.3|protein_coding|40/41|c.3694-16_3694-15dupAC||||||,TACACACAC|intron_variant|MODIFIER|COL18A1|COL18A1|transcript|NM_030582.3|protein_coding|39/40|c.4234-16_4234-15dupAC||||||,TACACACAC|intron_variant|MODIFIER|SLC19A1|SLC19A1|transcript|XM_017028445.1|protein_coding|6/6|c.1585-8128_1585-8127insGT||||||;ASP;DP4=16,2,16,2;DP=48;FQ=152.477;G5;G5A;GENEINFO=COL18A1:80781|SLC19A1:6573;IDV=10;IMF=0.416667;INDEL;INT;MQ0F=0;MQ=60;MQSB=1;PM;PMC;PV4=1,1,1,1;RS=58188320;RSPOS=45511096;SAO=0;SF=0,1;SGB=-0.662043;SLO;SSR=0;VC=DIV;VDB=0.0334354;VLD;VP=0x050128080005070002000200;WGT=1;dbSNPBuildID=129 GT:PL:DP 0/1:235,0,187:18 0/1:235,0,187:18 chr21 45997233 . CCAGGCCCTTCGTGCAGGCCCTTCGT CCAGGCCCTTCGT 58.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=CCAGGCCCTTCGT|intron_variant|MODIFIER|COL6A1|COL6A1|transcript|NM_001848.2|protein_coding|20/34|c.1399-175_1399-163delGCAGGCCCTTCGT||||||;DP4=6,0,4,0;DP=10;FQ=61.0623;IDV=2;IMF=0.4;INDEL;MQ0F=0;MQ=60;PV4=1,1,1,1;SF=0,1;SGB=-0.453602;VDB=0.0815962 GT:PL:DP 0/1:96,0,106:5 0/1:96,0,106:5 chr21 46000641 . AGGCCGGGGAAGGAGGGCGGCCGGGGA AGGCCGGGGA 133.72 . AC1=2;AC=4;AF1=1;AN=4;ANN=AGGCCGGGGA|intron_variant|MODIFIER|COL6A1|COL6A1|transcript|NM_001848.2|protein_coding|28/34|c.1814-108_1814-92delAGGAGGGCGGCCGGGGA||||||;DP4=0,0,10,0;DP=12;FQ=-49.5252;IDV=1;IMF=0.166667;INDEL;MQ0F=0;MQ=60;SF=0,1;SGB=-0.590765;VDB=0.0550147 GT:DP:PL 1/1:5:174,15,0 1/1:5:174,15,0 chr21 46000651 . AGGAGGGCGGCCGGGGAGG AG 175.47 . AC1=2;AC=4;AF1=1;AN=4;ANN=AG|intron_variant|MODIFIER|COL6A1|COL6A1|transcript|NM_001848.2|protein_coding|28/34|c.1814-106_1814-90delGAGGGCGGCCGGGGAGG||||||;DP4=0,0,18,0;DP=20;FQ=-61.5253;IDV=4;IMF=0.363636;INDEL;MQ0F=0;MQ=60;SF=0,1;SGB=-0.662043;VDB=0.0893344 GT:PL:DP 1/1:216,27,0:9 1/1:216,27,0:9 chr21 46110776 rs138728139 C CG 74.47 . AC1=1;AC=2;AF1=0.500315;AN=4;ANN=CG|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|NM_001849.3|protein_coding|1/27|c.-27-674_-27-673insG||||||,CG|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|XR_937439.2|pseudogene|1/26|n.104-674_104-673insG||||||,CG|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|XR_937438.2|pseudogene|1/26|n.104-674_104-673insG||||||,CG|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|NM_058174.2|protein_coding|1/27|c.-27-674_-27-673insG||||||,CG|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|NM_058175.2|protein_coding|1/27|c.-27-674_-27-673insG||||||,CG|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|XM_011529451.1|protein_coding|1/27|c.-27-674_-27-673insG||||||;ASP;CAF=0.6701,0.3299;COMMON=1;DP4=4,0,20,0;DP=32;FQ=-6.59755;G5;G5A;GENEINFO=COL6A2:1292;IDV=14;IMF=0.875;INDEL;INT;KGPhase3;MQ0F=0;MQ=60;PV4=1,0.0809751,1,0.396247;RS=138728139;RSPOS=46110776;SAO=0;SF=0,1;SGB=-0.670168;SSR=0;VC=DIV;VDB=5.53673e-05;VLD;VP=0x05000008000517002e000200;WGT=1;dbSNPBuildID=134 GT:PL:DP 0/1:112,0,29:12 0/1:112,0,29:12 chr21 46122740 . GC GCC 131.72 . AC1=2;AC=4;AF1=1;AN=4;ANN=GCC|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|NM_001849.3|protein_coding|20/27|c.1609-134dupC||||||,GCC|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|XR_937439.2|pseudogene|20/26|n.1739-134dupC||||||,GCC|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|XR_937438.2|pseudogene|20/26|n.1739-134dupC||||||,GCC|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|NM_058174.2|protein_coding|20/27|c.1609-134dupC||||||,GCC|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|NM_058175.2|protein_coding|20/27|c.1609-134dupC||||||,GCC|intron_variant|MODIFIER|COL6A2|COL6A2|transcript|XM_011529451.1|protein_coding|20/27|c.1609-134dupC||||||;DP4=0,0,6,4;DP=10;FQ=-49.5252;IDV=5;IMF=1;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.590765;VDB=0.754056 GT:PL:DP 1/1:172,15,0:5 1/1:172,15,0:5 chr21 46245202 . GAAGAAAGAA GAAGAA 214.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=GAAGAA|downstream_gene_variant|MODIFIER|MCM3AP-AS1|MCM3AP-AS1|transcript|NR_110566.1|lincRNA||n.*2209_*2212delAGAA|||||2209|,GAAGAA|downstream_gene_variant|MODIFIER|MCM3AP-AS1|MCM3AP-AS1|transcript|NR_110567.1|lincRNA||n.*2209_*2212delAGAA|||||2209|,GAAGAA|intron_variant|MODIFIER|MCM3AP-AS1|MCM3AP-AS1|transcript|NR_110565.1|lincRNA|3/3|n.423+4189_423+4192delAGAA||||||,GAAGAA|intron_variant|MODIFIER|MCM3AP|MCM3AP|transcript|NM_003906.4|protein_coding|22/27|c.4648-14_4648-11delTTCT||||||,GAAGAA|intron_variant|MODIFIER|MCM3AP-AS1|MCM3AP-AS1|transcript|NR_002776.4|lincRNA|2/2|n.222+4189_222+4192delAGAA||||||,GAAGAA|intron_variant|MODIFIER|MCM3AP|MCM3AP|transcript|XM_005261203.4|protein_coding|23/28|c.4648-14_4648-11delTTCT||||||,GAAGAA|intron_variant|MODIFIER|MCM3AP|MCM3AP|transcript|XM_005261204.4|protein_coding|23/28|c.4648-14_4648-11delTTCT||||||,GAAGAA|intron_variant|MODIFIER|MCM3AP|MCM3AP|transcript|XM_005261205.3|protein_coding|23/28|c.4648-14_4648-11delTTCT||||||;DP4=0,0,8,14;DP=30;FQ=-67.5254;IDV=11;IMF=0.733333;INDEL;MQ0F=0;MQ=60;MQSB=0.964642;SF=0,1;SGB=-0.676189;VDB=0.0760327 GT:DP:PL 1/1:11:255,33,0 1/1:11:255,33,0 chr21 46287125 rs58271568 TAAAAAAAAAA TAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAA 92.47 . AC1=1;AC=2,0;AF1=0.5;AN=4;ANN=TAAAAAAAAAAAAAAA|upstream_gene_variant|MODIFIER|MCM3AP|MCM3AP|transcript|NM_003906.4|protein_coding||c.-1850_-1849insTTTTT|||||1742|,TAAAAAAAAAAAAAAAA|upstream_gene_variant|MODIFIER|MCM3AP|MCM3AP|transcript|NM_003906.4|protein_coding||c.-1850_-1849insTTTTTT|||||1742|,TAAAAAAAAAAAAAAA|upstream_gene_variant|MODIFIER|MCM3AP|MCM3AP|transcript|XM_005261203.4|protein_coding||c.-1850_-1849insTTTTT|||||862|,TAAAAAAAAAAAAAAAA|upstream_gene_variant|MODIFIER|MCM3AP|MCM3AP|transcript|XM_005261203.4|protein_coding||c.-1850_-1849insTTTTTT|||||862|,TAAAAAAAAAAAAAAA|upstream_gene_variant|MODIFIER|MCM3AP|MCM3AP|transcript|XM_005261204.4|protein_coding||c.-1850_-1849insTTTTT|||||862|,TAAAAAAAAAAAAAAAA|upstream_gene_variant|MODIFIER|MCM3AP|MCM3AP|transcript|XM_005261204.4|protein_coding||c.-1850_-1849insTTTTTT|||||862|,TAAAAAAAAAAAAAAA|upstream_gene_variant|MODIFIER|MCM3AP|MCM3AP|transcript|XM_005261205.3|protein_coding||c.-1850_-1849insTTTTT|||||898|,TAAAAAAAAAAAAAAAA|upstream_gene_variant|MODIFIER|MCM3AP|MCM3AP|transcript|XM_005261205.3|protein_coding||c.-1850_-1849insTTTTTT|||||898|,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529634.2|protein_coding|2/3|c.597+8_597+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529634.2|protein_coding|2/3|c.597+7_597+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_005261156.3|protein_coding|2/3|c.597+8_597+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_005261156.3|protein_coding|2/3|c.597+7_597+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_017028394.1|protein_coding|2/3|c.597+8_597+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_017028394.1|protein_coding|2/3|c.597+7_597+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001006114.2|protein_coding|2/2|c.210+8_210+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001006114.2|protein_coding|2/2|c.210+7_210+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001314026.1|protein_coding|2/2|c.210+8_210+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001314026.1|protein_coding|2/2|c.210+7_210+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001314022.1|protein_coding|2/3|c.210+8_210+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001314022.1|protein_coding|2/3|c.210+7_210+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001314023.1|protein_coding|2/4|c.75+143_75+147dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001314023.1|protein_coding|2/4|c.75+142_75+147dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001314024.1|protein_coding|2/3|c.75+143_75+147dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001314024.1|protein_coding|2/3|c.75+142_75+147dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001314025.1|protein_coding|2/4|c.210+8_210+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_001314025.1|protein_coding|2/4|c.210+7_210+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_058181.2|protein_coding|2/4|c.210+8_210+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|NM_058181.2|protein_coding|2/4|c.210+7_210+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529629.2|protein_coding|2/4|c.210+8_210+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529629.2|protein_coding|2/4|c.210+7_210+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529631.2|protein_coding|2/5|c.210+8_210+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529631.2|protein_coding|2/5|c.210+7_210+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529633.2|protein_coding|2/5|c.210+8_210+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529633.2|protein_coding|2/5|c.210+7_210+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_017028396.1|protein_coding|2/2|c.210+8_210+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_017028396.1|protein_coding|2/2|c.210+7_210+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529630.2|protein_coding|2/4|c.210+8_210+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529630.2|protein_coding|2/4|c.210+7_210+12dupAAAAAA||||||,TAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529635.2|protein_coding|2/4|c.210+8_210+12dupAAAAA||||||,TAAAAAAAAAAAAAAAA|intron_variant|MODIFIER|YBEY|YBEY|transcript|XM_011529635.2|protein_coding|2/4|c.210+7_210+12dupAAAAAA||||||;ASP;DP4=2,2,2,12;DP=40;FQ=25.4881;GENEINFO=MCM3AP:8888|YBEY:54059;IDV=7;IMF=0.35;INDEL;INT;MQ0F=0;MQ=60;MQSB=1;NOV;PV4=0.416667,1,1,0.150828;R5;RS=58271568;RSPOS=46287135;SAO=0;SF=0,1;SGB=-0.636426;SSR=0;VC=DIV;VDB=0.2421;VP=0x0500000a0005000002000204;WGT=1;dbSNPBuildID=129 GT:PL:DP 0/1:199,69,129,70,0,129:9 0/1:199,69,129,70,0,129:9 chr21 46390565 . TGACG TGACGACG 48.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=TGACGACG|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_011529594.2|protein_coding|20/47|c.3922-103_3922-101dupACG||||||,TGACGACG|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_005261124.4|protein_coding|19/47|c.3841-103_3841-101dupACG||||||,TGACGACG|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_017028362.1|protein_coding|19/46|c.3841-103_3841-101dupACG||||||,TGACGACG|intron_variant|MODIFIER|PCNT|PCNT|transcript|NM_006031.5|protein_coding|19/46|c.3841-103_3841-101dupACG||||||,TGACGACG|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_017028363.1|protein_coding|19/47|c.3487-103_3487-101dupACG||||||,TGACGACG|intron_variant|MODIFIER|PCNT|PCNT|transcript|NM_001315529.1|protein_coding|19/46|c.3487-103_3487-101dupACG||||||;DP4=18,2,6,0;DP=34;FQ=51.4762;IDV=3;IMF=0.176471;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=1,1,1,0.479783;SF=0,1;SGB=-0.511536;VDB=0.129369 GT:DP:PL 0/1:13:86,0,255 0/1:13:86,0,255 chr21 46430737 . CTTTT CTTT 37.48 . AC1=1;AC=2;AF1=0.501256;AN=4;ANN=CTTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_011529594.2|protein_coding|38/47|c.8145+84delT||||||,CTTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_005261124.4|protein_coding|38/47|c.8097+84delT||||||,CTTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_017028362.1|protein_coding|37/46|c.8064+84delT||||||,CTTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|NM_006031.5|protein_coding|37/46|c.8064+84delT||||||,CTTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_017028363.1|protein_coding|38/47|c.7743+84delT||||||,CTTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|NM_001315529.1|protein_coding|37/46|c.7710+84delT||||||;DP4=0,4,0,12;DP=18;FQ=-11.8201;IDV=6;IMF=0.666667;INDEL;MQ0F=0;MQ=60;PV4=1,0.00689003,1,0.301823;SF=0,1;SGB=-0.616816;VDB=0.00675542 GT:PL:DP 0/1:75,0,23:8 0/1:75,0,23:8 chr21 46440024 . CT CTT 118.47 . AC1=1;AC=2;AF1=0.5;AN=4;ANN=CTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_011529594.2|protein_coding|42/47|c.9355-58dupT||||||,CTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_005261124.4|protein_coding|42/47|c.9307-58dupT||||||,CTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_017028362.1|protein_coding|41/46|c.9037-58dupT||||||,CTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|NM_006031.5|protein_coding|41/46|c.9274-58dupT||||||,CTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|XM_017028363.1|protein_coding|42/47|c.8953-58dupT||||||,CTT|intron_variant|MODIFIER|PCNT|PCNT|transcript|NM_001315529.1|protein_coding|41/46|c.8683-58dupT||||||;DP4=18,4,12,4;DP=48;FQ=121.443;IDV=10;IMF=0.416667;INDEL;MQ0F=0;MQ=60;MQSB=1;PV4=1,1,1,1;SF=0,1;SGB=-0.651104;VDB=0.120336 GT:DP:PL 0/1:19:156,0,177 0/1:19:156,0,177 chr21 46497134 . CTTTTTTTT CTTTTTTT 81.46 . AC1=2;AC=4;AF1=1;AN=4;ANN=CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_011529492.2|protein_coding|5/39|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_011529502.1|protein_coding|5/22|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028305.1|protein_coding|5/29|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_011529501.1|protein_coding|5/30|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028304.1|protein_coding|5/35|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028303.1|protein_coding|5/36|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028291.1|protein_coding|5/39|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028292.1|protein_coding|5/39|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028293.1|protein_coding|5/39|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028297.1|protein_coding|5/38|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028299.1|protein_coding|5/38|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028300.1|protein_coding|5/40|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028301.1|protein_coding|5/40|c.508+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028302.1|protein_coding|4/37|c.403+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|NM_206891.2|protein_coding|4/19|c.403+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|NM_001146115.1|protein_coding|4/19|c.403+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|NM_206890.2|protein_coding|4/20|c.403+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|NM_206889.2|protein_coding|4/21|c.403+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|NM_001146116.1|protein_coding|4/37|c.403+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|NM_015151.3|protein_coding|4/37|c.403+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028294.1|protein_coding|4/38|c.403+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028295.1|protein_coding|4/38|c.403+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028296.1|protein_coding|4/38|c.403+35delT||||||,CTTTTTTT|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028298.1|protein_coding|4/37|c.403+35delT||||||;DP4=0,0,14,56;DP=100;FQ=-139.526;IDV=42;IMF=0.84;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.693136;VDB=0.0487286 GT:PL:DP 1/1:122,105,0:35 1/1:122,105,0:35 chr21 46558408 . GC GCC 116.59 . AC1=2;AC=4;AF1=1;AN=4;ANN=GCC|downstream_gene_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028305.1|protein_coding||c.*8619dupC|||||2413|,GCC|downstream_gene_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_011529501.1|protein_coding||c.*1980dupC|||||1967|,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_011529492.2|protein_coding|33/39|c.4077+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028304.1|protein_coding|33/35|c.4077+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028303.1|protein_coding|33/36|c.4077+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028291.1|protein_coding|33/39|c.4077+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028292.1|protein_coding|33/39|c.4077+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028293.1|protein_coding|33/39|c.4074+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028297.1|protein_coding|32/38|c.3945+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028299.1|protein_coding|32/38|c.3822+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028300.1|protein_coding|33/40|c.4077+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028301.1|protein_coding|33/40|c.4077+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028302.1|protein_coding|31/37|c.3717+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|NM_001146116.1|protein_coding|32/37|c.3957+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|NM_015151.3|protein_coding|32/37|c.3969+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028294.1|protein_coding|32/38|c.3972+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028295.1|protein_coding|32/38|c.3969+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028296.1|protein_coding|32/38|c.3969+16dupC||||||,GCC|intron_variant|MODIFIER|DIP2A|DIP2A|transcript|XM_017028298.1|protein_coding|31/37|c.3840+16dupC||||||;DP4=0,0,8,4;DP=18;FQ=-52.5252;IDV=8;IMF=0.888889;INDEL;MQ0F=0;MQ=60;MQSB=1;SF=0,1;SGB=-0.616816;VDB=0.0641217 GT:PL:DP 1/1:157,18,0:6 1/1:157,18,0:6