##fileformat=VCFv4.1 ##fileDate=20250221-144755 ##CDx_Pipeline=Tissue-Hybrid-CDx ##CDx_Version=1.2.1 ##AnalysisPipelineName=CDx_Exome ##AnalysisPipelineVersion=V1.0.5 ##NGSPanelName=Hybrid_Exome_plus_720G ##NGSPanelVersion=V1.0 ##BatchID=MCS_021825_C ##Lane=Lane1 ##reference=hg38 ##PathogenicSilentFile=Pathogenic_Silent.20250210.vcf ##FlowcellName=250219_A01238_0602_AH33L5DSXF ##VariantDefDateTime=20250218-101803 ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT TN25-112103 chr1 2556714 rs4870 A G 0.0 Benign DP=3800;TI=NM_003820.3;GI=TNFRSF14;FC=Missense;PC=K17R;DC=c.50A>G;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.213:2989,809:1896/1904:1492/1497,403/406:0:0.0 chr1 6186820 . C T 0.0 lowQ DP=280;TI=NM_000983.3;GI=RPL22;FC=Silent;DC=c.243-4G>A;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:277,3:138/142:137/140,1/2:2:0.3 chr1 6197724 . C CT 0.0 lowQ DP=310;TI=NM_000983.3;GI=RPL22;FC=Frameshift;PC=K16fs;DC=c.44dupA;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:303,5:151/159:147/156,3/2:2:NA chr1 6825194 . G A 0.0 lowQ DP=201;TI=NM_015215.3;GI=CAMTA1;FC=Missense;PC=R73H;DC=c.218G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:198,3:100/101:99/99,1/2:2:0.3 chr1 7663346 rs200318010 TC T 0.0 NC;rs DP=1072;TI=NM_015215.3;GI=CAMTA1;FC=Noncoding;DC=c.806-5delC;LO=INTRON;EXON=9;oriDC=c.806-6delC GT:VF:AD:SB:SA:SP:SO 0/1:0.755:263,809:601/471:141/122,460/349:4:NA chr1 7677739 rs3011926 A G 0.0 rs DP=1180;TI=NM_015215.3;GI=CAMTA1;FC=Silent;DC=c.2914+6A>G;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1180:528/652:0/0,528/652:0:INF chr1 9717527 . C T 0.0 lowQ DP=567;TI=NM_005026.4;GI=PIK3CD;FC=Silent;DC=c.931-10C>T;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:561,6:322/245:319/242,3/3:1:0.1 chr1 10278083 . C A 0.0 lowQ DP=263;TI=NM_015074.3;GI=KIF1B;FC=Missense;PC=L373M;DC=c.1117C>A;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:259,4:128/135:126/133,2/2:0:0.0 chr1 10296619 . C T 0.0 lowQ DP=263;TI=NM_015074.3;GI=KIF1B;FC=Synonymous;PC=T559=;DC=c.1677C>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:259,4:129/134:127/132,2/2:0:0.0 chr1 10361820 rs12125492 A G 0.0 . DP=322;TI=NM_015074.3;GI=KIF1B;FC=Synonymous;PC=P1387=;DC=c.4161A>G;LO=EXON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.214:253,69:141/181:111/142,30/39:0:0.0 chr1 10365128 . A C 0.0 lowQ DP=397;TI=NM_015074.3;GI=KIF1B;FC=Missense;PC=L1419F;DC=c.4257A>C;LO=EXON;EXON=40 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:390,7:217/180:213/177,4/3:0:0.0 chr1 10365137 . A G 0.0 lowQ DP=460;TI=NM_015074.3;GI=KIF1B;FC=Synonymous;PC=S1422=;DC=c.4266A>G;LO=EXON;EXON=40 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:448,9:249/208:244/204,5/4:0:0.0 chr1 10374902 . C A 0.0 sb;lowQ DP=322;TI=NM_015074.3;GI=KIF1B;FC=Nonsense;PC=Y1669*;DC=c.5007C>A;LO=EXON;EXON=45 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:317,4:135/187:130/187,4/0:18:INF chr1 10375383 rs551608956 TTTG T 0.0 lowQ DP=389;TI=NM_015074.3;GI=KIF1B;FC=Noncoding;DC=c.5270+28_5270+30delGTT;LO=INTRON;EXON=46;oriDC=c.5270+11_5270+13delTTG GT:VF:AD:SB:SA:SP:SO 0/1:0.018:382,7:164/225:162/220,2/5:3:NA chr1 11121270 rs11121691 C T 0.0 . DP=3347;TI=NM_004958.3;GI=MTOR;FC=Synonymous;PC=L2303=;DC=c.6909G>A;LO=EXON;EXON=49 GT:VF:AD:SB:SA:SP:SO 0/1:0.771:768,2579:1755/1592:399/369,1356/1223:1:0.0 chr1 11130589 rs2275527 G A 0.0 . DP=5610;TI=NM_004958.3;GI=MTOR;FC=Synonymous;PC=S1851=;DC=c.5553C>T;LO=EXON;EXON=39 GT:VF:AD:SB:SA:SP:SO 0/1:0.766:1310,4299:2989/2620:692/618,2297/2002:2:0.0 chr1 11145001 rs1057079 C T 0.0 . DP=1153;TI=NM_004958.3;GI=MTOR;FC=Synonymous;PC=A1577=;DC=c.4731G>A;LO=EXON;EXON=33 GT:VF:AD:SB:SA:SP:SO 0/1:0.218:902,251:576/577:452/450,124/127:1:0.0 chr1 11228701 rs1064261 G A 0.0 . DP=2433;TI=NM_004958.3;GI=MTOR;FC=Synonymous;PC=N999=;DC=c.2997C>T;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.186:1979,453:1284/1149:1035/944,248/205:5:0.0 chr1 11241657 rs1135172 A G 0.0 . DP=2943;TI=NM_004958.3;GI=MTOR;FC=Synonymous;PC=D479=;DC=c.1437T>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.237:2245,698:1383/1560:1052/1193,331/367:1:0.0 chr1 15873111 . G C 0.0 sb;lowQ DP=1573;TI=NM_015001.2;GI=SPEN;FC=Missense;PC=G127R;DC=c.379G>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:1541,32:706/867:698/843,8/24:17:0.4 chr1 15873111 . G GC 0.0 lowQ DP=1553;TI=NM_015001.2;GI=SPEN;FC=Frameshift;PC=G127fs;DC=c.379_380insC;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1535,18:698/855:694/841,4/14:13:NA chr1 15916125 rs12063905 C A 0.0 . DP=759;TI=NM_015001.2;GI=SPEN;FC=Silent;DC=c.1244-3C>A;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.182:621,138:428/331:349/272,79/59:1:0.0 chr1 15922233 . CT C 0.0 R8.1;lowQ DP=378;TI=NM_015001.2;GI=SPEN;FC=Noncoding;DC=c.1750-5delT;LO=INTRON;EXON=10;oriDC=c.1750-15delT GT:VF:AD:SB:SA:SP:SO 0/1:0.029:336,11:209/169:186/150,7/4:2:NA chr1 15922233 . CTT C 0.0 R8.1;lowQ DP=378;TI=NM_015001.2;GI=SPEN;FC=Noncoding;DC=c.1750-6_1750-5delTT;LO=INTRON;EXON=10;oriDC=c.1750-15_1750-14delTT GT:VF:AD:SB:SA:SP:SO 0/1:0.011:336,4:209/169:186/150,2/2:1:NA chr1 15922245 . A T 0.0 lowQ DP=419;TI=NM_015001.2;GI=SPEN;FC=Silent;DC=c.1750-4A>T;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:413,6:212/207:209/204,3/3:0:0.0 chr1 15929149 rs848208 C T 0.0 Benign DP=1187;TI=NM_015001.2;GI=SPEN;FC=Missense;PC=A970V;DC=c.2909C>T;LO=EXON;EXON=11;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.193:957,229:578/609:463/494,114/115:2:0.0 chr1 15929512 rs848209 T C 0.0 Benign DP=1340;TI=NM_015001.2;GI=SPEN;FC=Missense;PC=L1091P;DC=c.3272T>C;LO=EXON;EXON=11;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1340:674/666:0/0,674/666:0:INF chr1 15929850 . A AC 0.0 lowQ DP=1001;TI=NM_015001.2;GI=SPEN;FC=Frameshift;PC=R1204fs;DC=c.3610_3611insC;LO=EXON;EXON=11;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.012:989,12:526/475:521/468,5/7:3:NA chr1 15933252 . TC T 0.0 sb;lowQ DP=4586;TI=NM_015001.2;GI=SPEN;FC=Frameshift;PC=S2338fs;DC=c.7013delC;LO=EXON;EXON=11;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.014:4522,64:2351/2235:2309/2213,42/22:17:NA chr1 15933318 rs848210 A G 0.0 Benign DP=4831;TI=NM_015001.2;GI=SPEN;FC=Missense;PC=N2360D;DC=c.7078A>G;LO=EXON;EXON=11;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.998:10,4819:2427/2404:4/6,2421/2398:3:0.2 chr1 15934421 rs848211 C T 0.0 . DP=6495;TI=NM_015001.2;GI=SPEN;FC=Synonymous;PC=A2727=;DC=c.8181C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.216:5089,1403:3278/3217:2561/2528,715/688:2:0.0 chr1 15935909 rs61749277 C T 0.0 . DP=5971;TI=NM_015001.2;GI=SPEN;FC=Synonymous;PC=S3223=;DC=c.9669C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.223:4638,1329:2981/2990:2311/2327,668/661:1:0.0 chr1 15935970 . A C 0.0 sb.s DP=4000;TI=NM_015001.2;GI=SPEN;FC=Missense;PC=T3244P;DC=c.9730A>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.277:2890,1108:1231/2768:123/2767,1108/0:200:INF chr1 15935976 . A C 0.0 sb.s DP=3109;TI=NM_015001.2;GI=SPEN;FC=Missense;PC=T3246P;DC=c.9736A>C;LO=EXON;EXON=11;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.121:2732,377:470/2639:94/2638,376/1:200:4.0 chr1 15935981 . T C 0.0 sb.s DP=2900;TI=NM_015001.2;GI=SPEN;FC=Synonymous;PC=P3247=;DC=c.9741T>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.068:2679,197:296/2587:95/2584,197/0:200:INF chr1 16125272 rs3754334 G A 0.0 . DP=5105;TI=NM_004431.4;GI=EPHA2;FC=Synonymous;PC=I958=;DC=c.2874C>T;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.765:1198,3907:3077/2028:715/483,2362/1545:2:0.0 chr1 16130403 . T A 0.0 lowQ DP=3366;TI=NM_004431.4;GI=EPHA2;FC=Missense;PC=N831I;DC=c.2492A>T;LO=EXON;EXON=15;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.013:3322,44:1449/1917:1432/1890,17/27:3:0.1 chr1 16138178 rs2230597 G A 0.0 . DP=5248;TI=NM_004431.4;GI=EPHA2;FC=Synonymous;PC=P329=;DC=c.987C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:3,5241:2506/2740:2/1,2504/2737:3:0.3 chr1 16148628 rs6678616 C T 0.0 . DP=6178;TI=NM_004431.4;GI=EPHA2;FC=Synonymous;PC=L191=;DC=c.573G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.777:1380,4798:3065/3113:673/707,2392/2406:3:0.0 chr1 16148631 rs6678618 C T 0.0 . DP=6186;TI=NM_004431.4;GI=EPHA2;FC=Synonymous;PC=A190=;DC=c.570G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.778:1366,4814:3050/3136:667/699,2381/2433:2:0.0 chr1 17027878 . GGAA G 0.0 lowQ;Benign DP=786;TI=NM_003000.2;GI=SDHB;FC=Noncoding;DC=c.424-16_424-14delTTC;LO=INTRON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.028:759,22:363/423:351/408,10/12:0:NA chr1 17054002 rs2746462 G T 0.0 . DP=4769;TI=NM_003000.2;GI=SDHB;FC=Synonymous;PC=A6=;DC=c.18C>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,4765:2273/2494:0/0,2271/2494:0:INF chr1 18700745 rs2743201 A G 0.0 rs DP=1367;TI=NM_002584.2;GI=PAX7;FC=Synonymous;PC=P293=;DC=c.879A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.211:1078,288:665/702:525/553,140/148:0:0.0 chr1 23559007 rs11574 T C 0.0 rs DP=854;TI=NM_002167.4;GI=ID3;FC=Missense;PC=T105A;DC=c.313A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,854:492/362:0/0,492/362:0:INF chr1 26696448 . CCCG C 0.0 lowQ DP=2849;TI=NM_006015.5;GI=ARID1A;FC=CODON_DELETION;PC=P21del;DC=c.60_62delGCC;LO=EXON;EXON=1;oriDC=c.46_48delCCG;oriPC=P16del;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.020:2791,58:1364/1485:1334/1457,30/28:3:NA chr1 26773690 . CGCA C 0.0 lowQ;Benign DP=4428;TI=NM_006015.5;GI=ARID1A;FC=CODON_DELETION;PC=Q1334del;DC=c.3999_4001delGCA;LO=EXON;EXON=16;oriDC=c.3978_3980delGCA;oriPC=Q1327del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.033:4260,144:2292/2136:2204/2056,75/69:0:NA chr1 26774767 . A C 0.0 lowQ DP=6227;TI=NM_006015.5;GI=ARID1A;FC=Missense;PC=T1514P;DC=c.4540A>C;LO=EXON;EXON=18;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.012:6148,76:3093/3134:3055/3093,38/38:0:0.0 chr1 26774770 . G T 0.0 lowQ DP=6340;TI=NM_006015.5;GI=ARID1A;FC=Missense;PC=G1515C;DC=c.4543G>T;LO=EXON;EXON=18;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.012:6259,77:3078/3262:3039/3220,37/40:0:0.0 chr1 27892206 . G T 0.0 lowQ DP=184;TI=NM_002946.4;GI=RPA2;FC=Missense;PC=S257Y;DC=c.770C>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:181,3:100/84:99/82,1/2:3:0.4 chr1 27892262 . G GA 0.0 R8.1;lowQ DP=130;TI=NM_002946.4;GI=RPA2;FC=Noncoding;DC=c.729-16dupT;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:122,3:71/59:68/54,1/2:4:NA chr1 27892262 . GA G 0.0 R8.1;lowQ DP=130;TI=NM_002946.4;GI=RPA2;FC=Noncoding;DC=c.729-16delT;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.038:122,5:71/59:68/54,2/3:3:NA chr1 27897699 . G A 0.0 lowQ DP=308;TI=NM_002946.4;GI=RPA2;FC=Synonymous;PC=S114=;DC=c.342C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:304,4:150/158:148/156,2/2:0:0.0 chr1 27906962 . G C 0.0 lowQ DP=156;TI=NM_002946.4;GI=RPA2;FC=Missense;PC=A100G;DC=c.299C>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.026:152,4:81/75:79/73,2/2:0:0.0 chr1 35187251 . G A 0.0 lowQ DP=116;TI=NM_005066.2;GI=SFPQ;FC=Missense;PC=R606W;DC=c.1816C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.034:112,4:50/66:48/64,2/2:1:0.1 chr1 35188048 . A T 0.0 lowQ DP=545;TI=NM_005066.2;GI=SFPQ;FC=Synonymous;PC=I580=;DC=c.1740T>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:539,6:277/268:274/265,3/3:0:0.0 chr1 35188075 rs575519895 T A 0.0 lowQ;rs DP=494;TI=NM_005066.2;GI=SFPQ;FC=Synonymous;PC=R571=;DC=c.1713A>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.034:477,17:243/251:234/243,9/8:1:0.1 chr1 35189076 . G A 0.0 lowQ DP=581;TI=NM_005066.2;GI=SFPQ;FC=Nonsense;PC=R542*;DC=c.1624C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:575,6:276/305:273/302,3/3:0:0.0 chr1 35190700 . A G 0.0 lowQ DP=193;TI=NM_005066.2;GI=SFPQ;FC=Missense;PC=L438P;DC=c.1313T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:186,4:105/88:101/85,2/2:1:0.1 chr1 35191528 rs576753443 C T 0.0 lowQ;rs DP=251;TI=NM_005066.2;GI=SFPQ;FC=Missense;PC=G277E;DC=c.830G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:247,3:118/133:117/130,1/2:2:0.3 chr1 36286832 rs6425977 C T 0.0 rs DP=1148;TI=NM_005119.3;GI=THRAP3;FC=Missense;PC=A201V;DC=c.602C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,1146:618/530:1/1,617/529:0:0.1 chr1 36289125 . A C 0.0 lowQ DP=199;TI=NM_005119.3;GI=THRAP3;FC=Missense;PC=K369T;DC=c.1106A>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:196,3:110/89:108/88,2/1:2:0.2 chr1 36289245 . C T 0.0 lowQ DP=300;TI=NM_005119.3;GI=THRAP3;FC=Missense;PC=P409L;DC=c.1226C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:297,3:159/141:158/139,1/2:3:0.4 chr1 36289767 . G T 0.0 lowQ DP=249;TI=NM_005119.3;GI=THRAP3;FC=Silent;DC=c.1745+3G>T;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:246,3:113/136:111/135,2/1:3:0.4 chr1 36292680 . CA C 0.0 lowQ DP=287;TI=NM_005119.3;GI=THRAP3;FC=Frameshift;PC=N669fs;DC=c.2006delA;LO=EXON;EXON=7;oriDC=c.2002delA GT:VF:AD:SB:SA:SP:SO 0/1:0.010:284,3:133/154:131/153,2/1:3:NA chr1 36300897 . G T 0.0 lowQ DP=211;TI=NM_005119.3;GI=THRAP3;FC=Missense;PC=R772I;DC=c.2315G>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:208,3:110/101:109/99,1/2:3:0.3 chr1 36301003 rs61739346 G A 0.0 rs DP=222;TI=NM_005119.3;GI=THRAP3;FC=Synonymous;PC=T807=;DC=c.2421G>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.797:45,177:111/111:22/23,89/88:1:0.0 chr1 36303959 . A T 0.0 lowQ DP=1157;TI=NM_005119.3;GI=THRAP3;FC=Missense;PC=D937V;DC=c.2810A>T;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1142,15:567/590:558/584,9/6:4:0.2 chr1 36471458 rs3917981 A G 0.0 rs DP=1096;TI=NM_156039.3;GI=CSF3R;FC=Synonymous;PC=T420=;DC=c.1260T>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1096:610/486:0/0,610/486:0:INF chr1 36471464 rs3917980 A G 0.0 rs DP=1167;TI=NM_156039.3;GI=CSF3R;FC=Synonymous;PC=R418=;DC=c.1254T>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.239:888,279:641/526:485/403,156/123:2:0.0 chr1 39897382 rs3134614 G C 0.0 rs DP=822;TI=NM_001033081.2;GI=MYCL;FC=Missense;PC=T362S;DC=c.1085C>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,822:487/335:0/0,487/335:0:INF chr1 44822521 . AG A 0.0 sb;lowQ DP=950;TI=NM_003738.4;GI=PTCH2;FC=Frameshift;PC=L1169fs;DC=c.3505delC;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:939,10:743/207:737/202,5/5:15:NA chr1 45331833 rs3219489 C G 0.0 Benign DP=6734;TI=NM_001128425.1;GI=MUTYH;FC=Missense;PC=Q338H;DC=c.1014G>C;LO=EXON;EXON=12;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.246:5074,1659:3347/3387:2537/2537,809/850:4:0.0 chr1 46278228 rs1048771 C T 0.0 . DP=4142;TI=NM_003579.3;GI=RAD54L;FC=Synonymous;PC=A730=;DC=c.2190C>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:3,4138:1866/2276:1/2,1864/2274:2:0.2 chr1 46583246 . A T 0.0 lowQ DP=275;TI=NM_003684.5;GI=MKNK1;FC=Missense;PC=L40M;DC=c.118T>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:272,3:135/140:134/138,1/2:2:0.3 chr1 46594149 . G A 0.0 lowQ DP=371;TI=NM_003684.5;GI=MKNK1;FC=Silent;DC=c.-3C>T;LO=5UTR;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:367,4:182/189:180/187,2/2:0:0.0 chr1 47219895 . C G 0.0 sb.s;lowQ DP=595;TI=NM_003189.5;GI=TAL1;FC=Missense;PC=G274A;DC=c.821G>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.034:575,20:71/524:52/523,19/1:200:2.3 chr1 47219903 . T C 0.0 sb.s DP=584;TI=NM_003189.5;GI=TAL1;FC=Synonymous;PC=G271=;DC=c.813A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.104:523,61:81/503:21/502,60/1:200:3.2 chr1 47223995 . C G 0.0 lowQ DP=335;TI=NM_003189.5;GI=TAL1;FC=Silent;DC=c.541+9G>C;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:331,4:181/154:179/152,2/2:1:0.1 chr1 47225896 rs145295250 GCAGA G 0.0 NC;rs DP=521;TI=NM_003189.5;GI=TAL1;FC=UTR;DC=c.-1-11_-1-8delTCTG;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.175:430,91:227/294:192/238,35/56:6:NA chr1 47260415 rs13376679 T C 0.0 rs DP=206;TI=NM_003035.2;GI=STIL;FC=Missense;PC=H984R;DC=c.2951A>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.184:168,38:105/101:87/81,18/20:2:0.1 chr1 47280799 . T A 0.0 lowQ DP=252;TI=NM_003035.2;GI=STIL;FC=Synonymous;PC=I553=;DC=c.1659A>T;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:249,3:132/120:130/119,2/1:2:0.3 chr1 47280811 . T G 0.0 lowQ DP=257;TI=NM_003035.2;GI=STIL;FC=Missense;PC=E549D;DC=c.1647A>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:250,7:137/120:133/117,4/3:1:0.1 chr1 47281006 rs10789505 G C 0.0 rs DP=258;TI=NM_003035.2;GI=STIL;FC=Synonymous;PC=S484=;DC=c.1452C>G;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.845:40,218:131/127:19/21,112/106:2:0.1 chr1 47302242 rs3125630 G A 0.0 rs DP=74;TI=NM_003035.2;GI=STIL;FC=Missense;PC=A86V;DC=c.257C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,74:40/34:0/0,40/34:0:INF chr1 58782245 . T A 0.0 . DP=1474;TI=NM_002228.3;GI=JUN;FC=Nonsense;PC=R276*;DC=c.826A>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.538:680,793:710/764:328/352,381/412:0:0.0 chr1 58782451 . GGCT G 0.0 lowQ DP=953;TI=NM_002228.3;GI=JUN;FC=CODON_DELETION;PC=Q206del;DC=c.617_619delAGC;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:930,21:475/478:464/466,10/11:1:NA chr1 64844806 rs2230588 T C 0.0 . DP=4234;TI=NM_002227.3;GI=JAK1;FC=Synonymous;PC=P733=;DC=c.2199A>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.773:955,3272:2155/2073:482/473,1673/1599:1:0.0 chr1 64845579 rs2230587 G A 0.0 . DP=3659;TI=NM_002227.3;GI=JAK1;FC=Synonymous;PC=S683=;DC=c.2049C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.216:2866,792:1772/1887:1387/1479,385/407:0:0.0 chr1 64855705 rs310229 G A 0.0 . DP=2191;TI=NM_002227.3;GI=JAK1;FC=Silent;DC=c.1459-7C>T;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.762:519,1670:900/1289:214/305,686/984:0:0.0 chr1 77963723 rs2274257 G C 0.0 . DP=520;TI=NM_003902.4;GI=FUBP1;FC=Silent;DC=c.1042-8C>G;LO=INTRON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.763:119,397:237/283:55/64,180/217:1:0.0 chr1 77964714 . C CG 0.0 lowQ DP=690;TI=NM_003902.4;GI=FUBP1;FC=Frameshift;PC=D257fs;DC=c.768_769insC;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:675,15:354/336:347/328,7/8:1:NA chr1 77967055 . C T 0.0 lowQ DP=356;TI=NM_003902.4;GI=FUBP1;FC=Missense;PC=G113R;DC=c.337G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:352,4:161/195:159/193,2/2:1:0.1 chr1 77967068 . T C 0.0 lowQ DP=369;TI=NM_003902.4;GI=FUBP1;FC=Synonymous;PC=P108=;DC=c.324A>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:363,5:176/193:173/190,2/3:1:0.1 chr1 77970017 . T TA 0.0 R8.1 DP=176;TI=NM_003902.4;GI=FUBP1;FC=Noncoding;DC=c.121-3dupT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.080:141,14:86/90:69/72,8/6:3:NA chr1 77970017 . TA T 0.0 R8.1 DP=176;TI=NM_003902.4;GI=FUBP1;FC=Noncoding;DC=c.121-3delT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.091:141,16:86/90:69/72,7/9:2:NA chr1 77970017 . TAA T 0.0 R8.1;lowQ DP=176;TI=NM_003902.4;GI=FUBP1;FC=Noncoding;DC=c.121-4_121-3delTT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.028:141,5:86/90:69/72,2/3:2:NA chr1 85270703 . C A 0.0 lowQ DP=321;TI=NM_003921.4;GI=BCL10;FC=Synonymous;PC=R87=;DC=c.261G>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:316,4:164/157:162/154,2/2:0:0.0 chr1 85270827 . AT A 0.0 lowQ DP=367;TI=NM_003921.4;GI=BCL10;FC=Frameshift;PC=I46fs;DC=c.136delA;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:362,5:184/183:182/180,2/3:2:NA chr1 85270878 . C G 0.0 lowQ DP=247;TI=NM_003921.4;GI=BCL10;FC=Missense;PC=C29S;DC=c.86G>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:243,4:113/134:111/132,2/2:1:0.1 chr1 85276329 rs11576939 G C 0.0 rs DP=469;TI=NM_003921.4;GI=BCL10;FC=Synonymous;PC=L8=;DC=c.24C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.151:398,71:211/258:182/216,29/42:4:0.1 chr1 92840561 . T C 0.0 lowQ DP=163;TI=NM_000969.4;GI=RPL5;FC=Missense;PC=M239T;DC=c.716T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:160,3:83/80:82/78,1/2:3:0.3 chr1 92840649 . C CT 0.0 R8.1;NC DP=129;TI=NM_000969.4;GI=RPL5;FC=Noncoding;DC=c.794+19dupT;LO=INTRON;EXON=7;oriDC=c.794+11dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.085:118,11:58/71:53/65,5/6:0:NA chr1 113829710 . T TA 0.0 R8.1;NC DP=132;TI=NM_015967.6;GI=PTPN22;FC=Noncoding;DC=c.2135-4dupT;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.129:81,17:61/71:38/43,9/8:2:NA chr1 113829710 . TA T 0.0 R8.1;NC DP=132;TI=NM_015967.6;GI=PTPN22;FC=Noncoding;DC=c.2135-4delT;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.258:81,34:61/71:38/43,14/20:2:NA chr1 113834946 rs2476601 A G 0.0 rs DP=169;TI=NM_015967.6;GI=PTPN22;FC=Missense;PC=W620R;DC=c.1858T>C;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,169:82/87:0/0,82/87:0:INF chr1 113837872 . G A 0.0 lowQ DP=256;TI=NM_015967.6;GI=PTPN22;FC=Missense;PC=R510C;DC=c.1528C>T;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:253,3:132/124:131/122,1/2:3:0.3 chr1 113855045 . G C 0.0 lowQ DP=333;TI=NM_015967.6;GI=PTPN22;FC=Missense;PC=T182S;DC=c.545C>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:329,4:164/169:162/167,2/2:0:0.0 chr1 116390332 . G A 0.0 lowQ DP=355;TI=NM_000701.7;GI=ATP1A1;FC=Synonymous;PC=L381=;DC=c.1143G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:351,4:172/183:170/181,2/2:0:0.0 chr1 116392945 . C T 0.0 lowQ DP=253;TI=NM_000701.7;GI=ATP1A1;FC=Missense;PC=A475V;DC=c.1424C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:250,3:127/126:125/125,2/1:2:0.3 chr1 116396607 . G A 0.0 lowQ DP=269;TI=NM_000701.7;GI=ATP1A1;FC=Missense;PC=V616I;DC=c.1846G>A;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:266,3:145/124:143/123,2/1:2:0.2 chr1 116398967 rs530130545 T G 0.0 rs DP=225;TI=NM_000701.7;GI=ATP1A1;FC=Synonymous;PC=A777=;DC=c.2331T>G;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.840:36,189:116/109:17/19,99/90:2:0.1 chr1 116399044 . G GC 0.0 lowQ DP=281;TI=NM_000701.7;GI=ATP1A1;FC=Frameshift;PC=T804fs;DC=c.2408_2409insC;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:277,4:135/146:133/144,2/2:0:NA chr1 116403923 . C T 0.0 lowQ DP=258;TI=NM_000701.7;GI=ATP1A1;FC=Synonymous;PC=L997=;DC=c.2991C>T;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:254,4:123/135:121/133,2/2:0:0.0 chr1 116404425 . A C 0.0 lowQ DP=392;TI=NM_000701.7;GI=ATP1A1;FC=Missense;PC=E1018A;DC=c.3053A>C;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:388,4:201/191:199/189,2/2:0:0.0 chr1 119507509 . A G 0.0 lowQ DP=398;TI=NM_000862.2;GI=HSD3B1;FC=Synonymous;PC=A11=;DC=c.33A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:394,4:200/198:198/196,2/2:0:0.0 chr1 119514528 . G A 0.0 lowQ DP=298;TI=NM_000862.2;GI=HSD3B1;FC=Synonymous;PC=Q335=;DC=c.1005G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:294,4:144/154:142/152,2/2:0:0.0 chr1 119514535 rs6203 C T 0.0 rs DP=299;TI=NM_000862.2;GI=HSD3B1;FC=Synonymous;PC=L338=;DC=c.1012C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,299:141/158:0/0,141/158:0:INF chr1 119514623 rs45609334 C A 0.0 rs DP=274;TI=NM_000862.2;GI=HSD3B1;FC=Missense;PC=T367N;DC=c.1100C>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,274:125/149:0/0,125/149:0:INF chr1 119916301 rs3795666 G A 0.0 rs DP=967;TI=NM_024408.3;GI=NOTCH2;FC=Synonymous;PC=L2141=;DC=c.6421C>T;LO=EXON;EXON=34 GT:VF:AD:SB:SA:SP:SO 0/1:0.195:778,189:496/471:397/381,99/90:1:0.0 chr1 119918413 . A G 0.0 lowQ DP=378;TI=NM_024408.3;GI=NOTCH2;FC=Synonymous;PC=D1974=;DC=c.5922T>C;LO=EXON;EXON=32 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:374,4:206/172:204/170,2/2:1:0.1 chr1 119941691 . G A 0.0 lowQ DP=230;TI=NM_024408.3;GI=NOTCH2;FC=Missense;PC=P939L;DC=c.2816C>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:227,3:105/125:104/123,1/2:2:0.2 chr1 119959384 . A G 0.0 lowQ DP=143;TI=NM_024408.3;GI=NOTCH2;FC=Silent;DC=c.2026+8T>C;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:140,3:80/63:79/61,1/2:4:0.4 chr1 119965495 . A G 0.0 lowQ DP=154;TI=NM_024408.3;GI=NOTCH2;FC=Missense;PC=C547R;DC=c.1639T>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:151,3:81/73:79/72,2/1:2:0.3 chr1 119987069 . G C 0.0 lowQ DP=300;TI=NM_024408.3;GI=NOTCH2;FC=Missense;PC=S255R;DC=c.765C>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:294,3:147/152:145/149,1/2:2:0.3 chr1 120069392 rs4021006 G A 0.0 rs DP=708;TI=NM_024408.3;GI=NOTCH2;FC=Synonymous;PC=R5=;DC=c.15C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.186:576,132:341/367:280/296,61/71:2:0.0 chr1 120069404 . C T 0.0 Benign DP=704;TI=NM_024408.3;GI=NOTCH2;FC=START_LOST;PC=M1?;DC=c.3G>A;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.118:621,83:333/371:291/330,42/41:3:0.1 chr1 147619694 . AC A 0.0 lowQ DP=10988;TI=NM_004326.3;GI=BCL9;FC=Frameshift;PC=P516fs;DC=c.1547delC;LO=EXON;EXON=8;oriDC=c.1540delC;CI=Likely_Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.014:10741,154:5485/5503:5365/5376,79/75:1:NA chr1 147620166 rs3820129 C T 0.0 Benign DP=9219;TI=NM_004326.3;GI=BCL9;FC=Missense;PC=P671S;DC=c.2011C>T;LO=EXON;EXON=8;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.306:6401,2818:4630/4589:3203/3198,1427/1391:2:0.0 chr1 148966575 . C A 0.0 lowQ;FP DP=125;TI=NM_014644.5;GI=PDE4DIP;FC=Missense;PC=N462K;DC=c.1386C>A;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:121,4:68/57:66/55,2/2:1:0.1 chr1 148972274 . C T 0.0 lowQ;FP DP=387;TI=NM_014644.5;GI=PDE4DIP;FC=Missense;PC=S692F;DC=c.2075C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:383,4:197/190:195/188,2/2:0:0.0 chr1 148979859 . A T 0.0 lowQ;FP DP=112;TI=NM_014644.5;GI=PDE4DIP;FC=Silent;DC=c.2687+10A>T;LO=INTRON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.036:108,4:49/63:47/61,2/2:1:0.1 chr1 149005097 . A G 0.0 sb.s;lowQ;FP DP=1137;sb;TI=NM_014644.5;GI=PDE4DIP;FC=Missense;PC=K1359E;DC=c.4075A>G;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.033:1099,38:621/516:589/510,32/6:37:0.7 chr1 149005208 . C T 0.0 sb;FP DP=1014;TI=NM_014644.5;GI=PDE4DIP;FC=Missense;PC=R1396W;DC=c.4186C>T;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.179:832,182:504/510:398/434,106/76:20:0.2 chr1 149005418 . A G 0.0 FP DP=1084;TI=NM_014644.5;GI=PDE4DIP;FC=Missense;PC=R1466G;DC=c.4396A>G;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.185:883,200:468/616:389/494,79/121:6:0.1 chr1 149012635 . G T 0.0 Benign;FP DP=2837;TI=NM_014644.5;GI=PDE4DIP;FC=Missense;PC=A1709S;DC=c.5125G>T;LO=EXON;EXON=32;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.695:865,1971:1472/1365:450/415,1021/950:0:0.0 chr1 149021033 . C A 0.0 Benign;FP DP=285;TI=NM_014644.5;GI=PDE4DIP;FC=Missense;PC=Q1989K;DC=c.5965C>A;LO=EXON;EXON=37;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.379:177,108:134/151:90/87,44/64:10:0.2 chr1 149021116 . C T 0.0 sb.s;FP DP=127;TI=NM_014644.5;GI=PDE4DIP;FC=Synonymous;PC=Y2016=;DC=c.6048C>T;LO=EXON;EXON=37 GT:VF:AD:SB:SA:SP:SO 0/1:0.197:102,25:43/84:42/60,1/24:34:1.2 chr1 149029906 . G A 0.0 FP DP=946;TI=NM_014644.5;GI=PDE4DIP;FC=Synonymous;PC=E2311=;DC=c.6933G>A;LO=EXON;EXON=42 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,946:419/527:0/0,419/527:0:INF chr1 149029915 . C T 0.0 FP DP=894;TI=NM_014644.5;GI=PDE4DIP;FC=Synonymous;PC=I2314=;DC=c.6942C>T;LO=EXON;EXON=42 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:2,891:413/481:1/1,411/480:0:0.1 chr1 150579208 . A C 0.0 sb.s;lowQ DP=1826;TI=NM_021960.4;GI=MCL1;FC=Missense;PC=L108R;DC=c.323T>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:1767,59:1485/341:1485/282,0/59:200:INF chr1 150816806 . CG C 0.0 lowQ DP=595;TI=NM_001668.3;GI=ARNT;FC=Frameshift;PC=R595fs;DC=c.1783delC;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:588,7:300/295:297/291,3/4:2:NA chr1 150836413 rs2228099 C G 0.0 rs DP=986;TI=NM_001668.3;GI=ARNT;FC=Synonymous;PC=V189=;DC=c.567G>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.713:283,703:485/501:138/145,347/356:1:0.0 chr1 155188206 . C A 0.0 lowQ DP=2521;TI=NM_002456.5;GI=MUC1;FC=Missense;PC=S80I;DC=c.239G>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:2452,43:1289/1231:1252/1200,24/19:3:0.1 chr1 155192276 rs4072037 C T 0.0 rs DP=1072;TI=NM_002456.5;GI=MUC1;FC=Synonymous;PC=T22=;DC=c.66G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.720:300,772:469/603:130/170,339/433:1:0.0 chr1 155900564 . CA C 0.0 lowQ DP=660;TI=NM_006912.5;GI=RIT1;FC=Frameshift;PC=F161fs;DC=c.483delT;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:649,7:315/345:310/339,3/4:1:NA chr1 155900625 rs1749409 G A 0.0 rs DP=566;TI=NM_006912.5;GI=RIT1;FC=Silent;DC=c.430-7C>T;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,566:254/312:0/0,254/312:0:INF chr1 156791787 . G A 0.0 lowQ DP=415;TI=NM_005973.4;GI=PRCC;FC=Missense;PC=E392K;DC=c.1174G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:409,6:182/233:179/230,3/3:1:0.1 chr1 156873676 . C G 0.0 lowQ;Benign DP=9049;TI=NM_002529.3;GI=NTRK1;FC=Missense;PC=H298Q;DC=c.894C>G;LO=EXON;EXON=8;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.019:8879,170:4618/4431:4535/4344,83/87:3:0.0 chr1 156873686 . C T 0.0 lowQ DP=9298;TI=NM_002529.3;GI=NTRK1;FC=Missense;PC=P302S;DC=c.904C>T;LO=EXON;EXON=8;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.012:9182,114:4759/4539:4694/4488,64/50:5:0.1 chr1 156876441 rs6334 G A 0.0 . DP=9452;TI=NM_002529.3;GI=NTRK1;FC=Synonymous;PC=Q558=;DC=c.1674G>A;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.714:2698,6753:5054/4398:1446/1252,3608/3145:1:0.0 chr1 156879126 rs6336 C T 0.0 Benign DP=6350;TI=NM_002529.3;GI=NTRK1;FC=Missense;PC=H604Y;DC=c.1810C>T;LO=EXON;EXON=15;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.665:2127,4221:3600/2750:1201/926,2398/1823:1:0.0 chr1 156879154 rs6339 G T 0.0 Benign DP=7685;TI=NM_002529.3;GI=NTRK1;FC=Missense;PC=G613V;DC=c.1838G>T;LO=EXON;EXON=15;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.664:2581,5100:4116/3569:1410/1171,2704/2396:7:0.0 chr1 156879203 rs6337 C T 0.0 . DP=9805;TI=NM_002529.3;GI=NTRK1;FC=Synonymous;PC=A629=;DC=c.1887C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:2,9803:5074/4731:1/1,5073/4730:0:0.0 chr1 157587911 rs2777962 G A 0.0 rs DP=485;TI=NM_031282.2;GI=FCRL4;FC=Synonymous;PC=D172=;DC=c.516C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.654:168,317:254/231:84/84,170/147:4:0.1 chr1 158614313 . G T 0.0 sb;lowQ DP=222;TI=NM_003126.3;GI=SPTA1;FC=Silent;DC=c.6789-7C>A;LO=INTRON;EXON=49 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:218,3:143/78:143/75,0/3:17:INF chr1 158614313 rs5778083 G GA 0.0 R8.1;NC;rs DP=219;TI=NM_003126.3;GI=SPTA1;FC=Noncoding;DC=c.6789-8dupT;LO=INTRON;EXON=49 GT:VF:AD:SB:SA:SP:SO 0/1:0.119:176,26:142/76:112/64,20/6:7:NA chr1 158614313 . GA G 0.0 R8.1;NC DP=219;TI=NM_003126.3;GI=SPTA1;FC=Noncoding;DC=c.6789-8delT;LO=INTRON;EXON=49 GT:VF:AD:SB:SA:SP:SO 0/1:0.064:176,14:142/76:112/64,8/6:2:NA chr1 158639598 . T C 0.0 lowQ DP=378;TI=NM_003126.3;GI=SPTA1;FC=Missense;PC=E1655G;DC=c.4964A>G;LO=EXON;EXON=35 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:374,4:203/175:201/173,2/2:1:0.1 chr1 158643313 . A G 0.0 lowQ DP=104;TI=NM_003126.3;GI=SPTA1;FC=Silent;DC=c.4442+9T>C;LO=INTRON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.038:100,4:57/47:55/45,2/2:1:0.1 chr1 158649938 rs2482965 A C 0.0 rs DP=220;TI=NM_003126.3;GI=SPTA1;FC=Missense;PC=S1163A;DC=c.3487T>G;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,220:108/112:0/0,108/112:0:INF chr1 158654733 . G A 0.0 . DP=441;TI=NM_003126.3;GI=SPTA1;FC=Missense;PC=P972S;DC=c.2914C>T;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.188:358,83:211/230:172/186,39/44:1:0.0 chr1 158657473 . T A 0.0 sb.s;lowQ DP=350;TI=NM_003126.3;GI=SPTA1;FC=Silent;DC=c.2805+4A>T;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:339,11:54/296:43/296,11/0:145:INF chr1 158668067 . G T 0.0 sb;lowQ DP=190;TI=NM_003126.3;GI=SPTA1;FC=Silent;DC=c.1834-5C>A;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:186,4:115/75:115/71,0/4:19:INF chr1 158668075 . G GA 0.0 R8.1;NC DP=157;TI=NM_003126.3;GI=SPTA1;FC=Noncoding;DC=c.1834-14dupT;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.051:107,8:98/59:63/44,7/1:10:NA chr1 158668075 . GA G 0.0 R8.1;NC DP=157;TI=NM_003126.3;GI=SPTA1;FC=Noncoding;DC=c.1834-14delT;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.217:107,34:98/59:63/44,23/11:4:NA chr1 158668075 . GAA G 0.0 R8.1;lowQ;NC DP=157;TI=NM_003126.3;GI=SPTA1;FC=Noncoding;DC=c.1834-15_1834-14delTT;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.038:107,6:98/59:63/44,3/3:2:NA chr1 158669714 . C CG 0.0 sb;lowQ DP=255;TI=NM_003126.3;GI=SPTA1;FC=Frameshift;PC=D558fs;DC=c.1671_1672insC;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:252,3:115/140:115/137,0/3:20:NA chr1 158677705 rs325996 A T 0.0 rs DP=609;TI=NM_003126.3;GI=SPTA1;FC=Synonymous;PC=A314=;DC=c.942T>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:0,608:316/293:0/0,316/292:0:INF chr1 158677732 rs703121 A G 0.0 rs DP=636;TI=NM_003126.3;GI=SPTA1;FC=Synonymous;PC=S305=;DC=c.915T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.244:481,155:329/307:249/232,80/75:0:0.0 chr1 158677841 rs325995 T A 0.0 rs DP=405;TI=NM_003126.3;GI=SPTA1;FC=Silent;DC=c.813-7A>T;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:1,404:176/229:0/1,176/228:0:INF chr1 158678528 . G T 0.0 lowQ DP=251;TI=NM_003126.3;GI=SPTA1;FC=Missense;PC=H229N;DC=c.685C>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:248,3:112/139:110/138,2/1:4:0.4 chr1 158685246 rs435080 G A 0.0 rs DP=585;TI=NM_003126.3;GI=SPTA1;FC=Synonymous;PC=V42=;DC=c.126C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,585:294/291:0/0,294/291:0:INF chr1 158686491 rs2564858 T C 0.0 rs DP=204;TI=NM_003126.3;GI=SPTA1;FC=Silent;DC=c.24+3A>G;LO=INTRON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,204:106/98:0/0,106/98:0:INF chr1 161314434 rs1451337382 A AGT 0.0 Benign DP=12277;TI=NM_003001.3;GI=SDHC;FC=Noncoding;DC=c.20+11_20+12dupTG;LO=INTRON;EXON=1;oriDC=c.20+10_20+11dupGT;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.682:3896,8370:5989/6288:1940/1956,4043/4327:9:NA chr1 179109038 . A C 0.0 sb.s DP=1585;TI=NM_005158.4;GI=ABL2;FC=Synonymous;PC=G728=;DC=c.2184T>G;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.136:1368,215:352/1233:136/1232,215/0:200:INF chr1 198703297 . G T 0.0 lowQ DP=203;TI=NM_002838.4;GI=PTPRC;FC=Splicing;DC=c.584-1G>T;LO=SPLICING;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:199,4:108/95:106/93,2/2:0:0.1 chr1 198735165 rs7540378 C T 0.0 rs DP=184;TI=NM_002838.4;GI=PTPRC;FC=Synonymous;PC=G772=;DC=c.2316C>T;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.755:45,139:94/90:23/22,71/68:0:0.0 chr1 202335637 . G T 0.0 lowQ DP=392;TI=NM_014176.3;GI=UBE2T;FC=Silent;DC=c.109+9C>A;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:387,5:210/182:207/180,3/2:1:0.1 chr1 202335740 rs14451 T C 0.0 rs DP=509;TI=NM_014176.3;GI=UBE2T;FC=Synonymous;PC=S5=;DC=c.15A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.242:386,123:260/249:199/187,61/62:2:0.0 chr1 204434531 rs3747636 A G 0.0 rs DP=2420;TI=NM_002646.3;GI=PIK3C2B;FC=Synonymous;PC=N1198=;DC=c.3594T>C;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.311:1666,753:1199/1221:827/839,372/381:0:0.0 chr1 204444169 rs2292459 C T 0.0 rs DP=581;TI=NM_002646.3;GI=PIK3C2B;FC=Silent;DC=c.2773-7G>A;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.726:158,422:314/267:81/77,232/190:4:0.1 chr1 204444171 rs2292460 G A 0.0 rs DP=556;TI=NM_002646.3;GI=PIK3C2B;FC=Silent;DC=c.2773-9C>T;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.723:154,402:296/260:78/76,218/184:3:0.1 chr1 204455900 rs3765156 G A 0.0 rs DP=4049;TI=NM_002646.3;GI=PIK3C2B;FC=Synonymous;PC=F633=;DC=c.1899C>T;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.275:2934,1114:2163/1886:1557/1377,605/509:3:0.0 chr1 204469206 rs1124777 C T 0.0 rs DP=2591;TI=NM_002646.3;GI=PIK3C2B;FC=Synonymous;PC=P199=;DC=c.597G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2591:1235/1356:0/0,1235/1356:0:INF chr1 204469515 rs1553921 G T 0.0 rs DP=3572;TI=NM_002646.3;GI=PIK3C2B;FC=Synonymous;PC=L96=;DC=c.288C>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,3572:1783/1789:0/0,1783/1789:0:INF chr1 205620847 . T TA 0.0 R8.1;lowQ;NC DP=1237;TI=NM_001973.3;GI=ELK4;FC=Noncoding;DC=c.208-10dupT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.026:1119,32:587/650:533/586,15/17:0:NA chr1 205620847 . TA T 0.0 R8.1;NC DP=1237;TI=NM_001973.3;GI=ELK4;FC=Noncoding;DC=c.208-10delT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.064:1119,79:587/650:533/586,35/44:2:NA chr1 206474444 rs1539243 T C 0.0 rs DP=2815;TI=NM_014002.3;GI=IKBKE;FC=Synonymous;PC=I67=;DC=c.201T>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,2811:1333/1482:0/0,1331/1480:0:INF chr1 206477764 rs2297545 G A 0.0 rs DP=1736;TI=NM_014002.3;GI=IKBKE;FC=Synonymous;PC=T239=;DC=c.717G>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.261:1283,453:901/835:664/619,237/216:1:0.0 chr1 206496132 rs3748022 C T 0.0 rs DP=1439;TI=NM_014002.3;GI=IKBKE;FC=Missense;PC=P713L;DC=c.2138C>T;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.271:1049,390:738/701:531/518,207/183:4:0.0 chr1 226071412 . C G 0.0 sb;Benign DP=1674;TI=NM_002107.4;GI=H3F3A;FC=Missense;PC=A115G;DC=c.344C>G;LO=EXON;EXON=4;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.131:1454,220:844/830:682/772,162/58:128:0.5 chr1 226383139 rs1805415 T C 0.0 . DP=1630;TI=NM_001618.3;GI=PARP1;FC=Synonymous;PC=K352=;DC=c.1056A>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1629:727/903:0/0,727/902:0:INF chr1 226385663 rs1805414 A G 0.0 . DP=3090;TI=NM_001618.3;GI=PARP1;FC=Synonymous;PC=A284=;DC=c.852T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.731:830,2259:1459/1631:391/439,1068/1191:0:0.0 chr1 226392320 rs1805405 G T 0.0 . DP=241;TI=NM_001618.3;GI=PARP1;FC=Silent;DC=c.287-6C>A;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.718:68,173:109/132:31/37,78/95:0:0.0 chr1 231366429 . G A 0.0 lowQ DP=325;TI=NM_022051.2;GI=EGLN1;FC=Synonymous;PC=V421=;DC=c.1263C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:319,6:173/152:170/149,3/3:1:0.1 chr1 231366484 . T TA 0.0 R8.1 DP=300;TI=NM_022051.2;GI=EGLN1;FC=Noncoding;DC=c.1217-10dupT;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.080:262,24:147/153:130/132,10/14:3:NA chr1 231366484 . T TAA 0.0 R8.1;lowQ DP=300;TI=NM_022051.2;GI=EGLN1;FC=Noncoding;DC=c.1217-11_1217-10dupTT;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:262,5:147/153:130/132,2/3:2:NA chr1 231366484 . TA T 0.0 R8.1;lowQ DP=300;TI=NM_022051.2;GI=EGLN1;FC=Noncoding;DC=c.1217-10delT;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:262,9:147/153:130/132,5/4:1:NA chr1 231421509 rs12097901 C G 0.0 Benign DP=1946;TI=NM_022051.2;GI=EGLN1;FC=Missense;PC=C127S;DC=c.380G>C;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1946:1006/940:0/0,1006/940:0:INF chr1 231421888 . TGGC T 0.0 lowQ DP=1068;TI=NM_022051.2;GI=EGLN1;FC=UTR;DC=c.-3_-1delGCC;LO=5UTR;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:1046,20:592/476:582/464,9/11:5:NA chr1 241500602 . T TGA 0.0 sb;R8.2 DP=1654;TI=NM_000143.3;GI=FH;FC=Noncoding;DC=c.1237-14_1237-13dupTC;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.102:1054,168:801/853:562/492,68/100:27:NA chr1 241500602 . T TGAGA 0.0 sb;R8.2 DP=1654;TI=NM_000143.3;GI=FH;FC=Noncoding;DC=c.1237-16_1237-13dupTCTC;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.186:1054,308:801/853:562/492,129/179:34:NA chr1 241500602 . T TGAGAGA 0.0 sb;R8.2;lowQ DP=1654;TI=NM_000143.3;GI=FH;FC=Noncoding;DC=c.1237-18_1237-13dupTCTCTC;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.045:1054,74:801/853:562/492,23/51:37:NA chr1 241500602 . TGA T 0.0 R8.2;lowQ DP=1654;TI=NM_000143.3;GI=FH;FC=Noncoding;DC=c.1237-14_1237-13delTC;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1054,21:801/853:562/492,9/12:5:NA chr1 241866849 rs735943 A G 0.0 Benign DP=660;TI=NM_006027.4;GI=EXO1;FC=Missense;PC=H354R;DC=c.1061A>G;LO=EXON;EXON=9;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.314:453,207:356/304:245/208,111/96:0:0.0 chr1 241872080 rs4149963 C T 0.0 Benign DP=499;TI=NM_006027.4;GI=EXO1;FC=Missense;PC=T439M;DC=c.1316C>T;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.238:380,119:269/230:205/175,64/55:0:0.0 chr1 241879243 rs1776148 A G 0.0 Benign DP=624;TI=NM_006027.4;GI=EXO1;FC=Missense;PC=E670G;DC=c.2009A>G;LO=EXON;EXON=11;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.694:189,433:291/333:85/104,205/228:2:0.0 chr1 241881973 rs1635498 C T 0.0 Benign DP=550;TI=NM_006027.4;GI=EXO1;FC=Missense;PC=R723C;DC=c.2167C>T;LO=EXON;EXON=12;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,550:271/279:0/0,271/279:0:INF chr2 17761508 rs1812152 T A 0.0 rs DP=513;TI=NM_182625.4;GI=GEN1;FC=Missense;PC=S92T;DC=c.274T>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,513:260/253:0/0,260/253:0:INF chr2 17766684 . C A 0.0 lowQ DP=208;TI=NM_182625.4;GI=GEN1;FC=Missense;PC=P211T;DC=c.631C>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:204,4:96/112:94/110,2/2:1:0.1 chr2 17772760 rs300175 G A 0.0 rs DP=337;TI=NM_182625.4;GI=GEN1;FC=Missense;PC=S310N;DC=c.929G>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,337:164/173:0/0,164/173:0:INF chr2 17780923 . A G 0.0 lowQ DP=337;TI=NM_182625.4;GI=GEN1;FC=Missense;PC=N571D;DC=c.1711A>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:331,6:162/175:158/173,4/2:4:0.3 chr2 17781183 rs300168 A G 0.0 rs DP=178;TI=NM_182625.4;GI=GEN1;FC=Synonymous;PC=E657=;DC=c.1971A>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,178:85/93:0/0,85/93:0:INF chr2 17781251 rs300169 C T 0.0 rs DP=165;TI=NM_182625.4;GI=GEN1;FC=Missense;PC=T680I;DC=c.2039C>T;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:0.994:1,164:81/84:0/1,81/83:0:INF chr2 17781817 . G T 0.0 lowQ DP=213;TI=NM_182625.4;GI=GEN1;FC=Missense;PC=D869Y;DC=c.2605G>T;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:210,3:145/68:144/66,1/2:7:0.6 chr2 24031152 . C A 0.0 lowQ DP=382;TI=NM_025203.2;GI=WDCP;FC=Missense;PC=W649C;DC=c.1947G>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:378,4:161/221:159/219,2/2:1:0.1 chr2 24037778 . G A 0.0 lowQ DP=257;TI=NM_025203.2;GI=WDCP;FC=Missense;PC=R573W;DC=c.1717C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:254,3:136/121:134/120,2/1:2:0.3 chr2 24038418 . G A 0.0 lowQ DP=277;TI=NM_025203.2;GI=WDCP;FC=Synonymous;PC=N359=;DC=c.1077C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:274,3:139/138:137/137,2/1:2:0.3 chr2 24039190 rs3731620 G A 0.0 rs DP=967;TI=NM_025203.2;GI=WDCP;FC=Missense;PC=T102M;DC=c.305C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.474:508,458:467/500:246/262,220/238:0:0.0 chr2 25246633 rs2276598 C T 0.0 . DP=6050;TI=NM_022552.4;GI=DNMT3A;FC=Synonymous;PC=L422=;DC=c.1266G>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.484:3119,2930:3403/2647:1755/1364,1647/1283:0:0.0 chr2 25247044 rs2276599 C T 0.0 . DP=4720;TI=NM_022552.4;GI=DNMT3A;FC=Silent;DC=c.1122+7G>A;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:1,4718:2561/2158:0/1,2561/2157:0:INF chr2 25749987 . T C 0.0 lowQ DP=282;TI=NM_018263.5;GI=ASXL2;FC=Synonymous;PC=T523=;DC=c.1569A>G;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:278,4:132/150:132/146,0/4:12:INF chr2 25767574 . C T 0.0 lowQ DP=339;TI=NM_018263.5;GI=ASXL2;FC=Silent;DC=c.775+9G>A;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:335,4:180/159:178/157,2/2:0:0.1 chr2 25799526 . G A 0.0 lowQ DP=368;TI=NM_018263.5;GI=ASXL2;FC=Missense;PC=P88S;DC=c.262C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:363,5:158/210:156/207,2/3:0:0.1 chr2 25845545 . T C 0.0 RV DP=113;TI=NM_018263.5;GI=ASXL2;FC=Missense;PC=N26D;DC=c.76A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.053:107,6:55/58:52/55,3/3:0:0.0 chr2 29193500 rs1881421 G C 0.0 Benign DP=7111;TI=NM_004304.4;GI=ALK;FC=Missense;PC=D1529E;DC=c.4587C>G;LO=EXON;EXON=29;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,7108:3696/3415:0/0,3694/3414:0:INF chr2 29193615 rs1881420 T C 0.0 Benign DP=7980;TI=NM_004304.4;GI=ALK;FC=Missense;PC=K1491R;DC=c.4472A>G;LO=EXON;EXON=29;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.501:3979,4000:4052/3928:2034/1945,2018/1982:3:0.0 chr2 29193706 rs1670283 T C 0.0 Benign DP=8424;TI=NM_004304.4;GI=ALK;FC=Missense;PC=I1461V;DC=c.4381A>G;LO=EXON;EXON=29;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:4,8420:4204/4220:2/2,4202/4218:0:0.0 chr2 29193749 rs56132472 G A 0.0 . DP=8037;TI=NM_004304.4;GI=ALK;FC=Synonymous;PC=T1446=;DC=c.4338C>T;LO=EXON;EXON=29 GT:VF:AD:SB:SA:SP:SO 0/1:0.475:4216,3818:3853/4184:2047/2169,1805/2013:6:0.0 chr2 29193928 rs17007646 G A 0.0 . DP=3288;TI=NM_004304.4;GI=ALK;FC=Silent;DC=c.4165-6C>T;LO=INTRON;EXON=29 GT:VF:AD:SB:SA:SP:SO 0/1:0.470:1741,1545:1352/1936:741/1000,610/935:11:0.1 chr2 29222592 rs3795850 G T 0.0 . DP=6262;TI=NM_004304.4;GI=ALK;FC=Synonymous;PC=G1125=;DC=c.3375C>A;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.475:3281,2974:2910/3352:1526/1755,1380/1594:0:0.0 chr2 29275129 rs145780832 G A 0.0 Benign DP=3353;TI=NM_004304.4;GI=ALK;FC=Missense;PC=P671S;DC=c.2011C>T;LO=EXON;EXON=11;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.490:1711,1642:1786/1567:904/807,882/760:2:0.0 chr2 29320797 rs2293564 T C 0.0 . DP=6167;TI=NM_004304.4;GI=ALK;FC=Synonymous;PC=Q500=;DC=c.1500A>G;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,6160:3018/3149:0/0,3015/3145:0:INF chr2 29717663 rs2246745 A T 0.0 . DP=1550;TI=NM_004304.4;GI=ALK;FC=Synonymous;PC=P234=;DC=c.702T>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.485:799,751:736/814:381/418,355/396:1:0.0 chr2 29920633 rs4358080 G C 0.0 . DP=5255;TI=NM_004304.4;GI=ALK;FC=Synonymous;PC=L9=;DC=c.27C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,5249:2404/2851:0/1,2402/2847:0:INF chr2 38995297 . G A 0.0 lowQ DP=364;TI=NM_005633.3;GI=SOS1;FC=Nonsense;PC=Q1058*;DC=c.3172C>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:360,4:174/190:172/188,2/2:0:0.0 chr2 38995298 . C A 0.0 lowQ DP=364;TI=NM_005633.3;GI=SOS1;FC=Missense;PC=Q1057H;DC=c.3171G>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:360,4:174/190:172/188,2/2:0:0.0 chr2 38995315 . G A 0.0 lowQ DP=362;TI=NM_005633.3;GI=SOS1;FC=Missense;PC=H1052Y;DC=c.3154C>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:358,4:169/193:167/191,2/2:0:0.1 chr2 38997267 . C A 0.0 lowQ DP=274;TI=NM_005633.3;GI=SOS1;FC=Nonsense;PC=E984*;DC=c.2950G>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:271,3:146/128:144/127,2/1:2:0.2 chr2 39006537 . G GA 0.0 lowQ DP=231;TI=NM_005633.3;GI=SOS1;FC=Noncoding;DC=c.2674-9dupT;LO=INTRON;EXON=17;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.013:228,3:116/115:114/114,2/1:2:NA chr2 39007090 . G A 0.0 lowQ DP=300;TI=NM_005633.3;GI=SOS1;FC=Missense;PC=L872F;DC=c.2614C>T;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:296,4:168/132:166/130,2/2:1:0.1 chr2 39007201 . TA T 0.0 R8.1;lowQ DP=293;TI=NM_005633.3;GI=SOS1;FC=Noncoding;DC=c.2511-9delT;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:285,6:137/156:133/152,3/3:1:NA chr2 39012305 . G A 0.0 lowQ DP=286;TI=NM_005633.3;GI=SOS1;FC=Synonymous;PC=I737=;DC=c.2211C>T;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:282,4:128/158:126/156,2/2:1:0.1 chr2 39024007 . C T 0.0 lowQ DP=226;TI=NM_005633.3;GI=SOS1;FC=Silent;DC=c.1202+3G>A;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:223,3:119/107:117/106,2/1:2:0.3 chr2 39024019 . C T 0.0 lowQ DP=253;TI=NM_005633.3;GI=SOS1;FC=Missense;PC=R398Q;DC=c.1193G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.024:247,6:133/120:130/117,3/3:0:0.0 chr2 42282878 rs6736913 A G 0.0 rs DP=1346;TI=NM_019063.4;GI=EML4;FC=Missense;PC=K283E;DC=c.847A>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:0,1343:755/591:0/0,754/589:0:INF chr2 42288248 rs10202624 A G 0.0 rs DP=1131;TI=NM_019063.4;GI=EML4;FC=Missense;PC=I382V;DC=c.1144A>G;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:0,1129:587/544:0/0,586/543:0:INF chr2 42303191 rs35669886 C A 0.0 rs DP=2126;TI=NM_019063.4;GI=EML4;FC=Synonymous;PC=R577=;DC=c.1729C>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:1071,1053:1108/1018:554/517,553/500:1:0.0 chr2 47373967 rs1126497 T C 0.0 rs DP=530;TI=NM_002354.2;GI=EPCAM;FC=Missense;PC=M115T;DC=c.344T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.570:228,302:242/288:100/128,142/160:3:0.1 chr2 47386560 rs62139669 T C 0.0 rs DP=118;TI=NM_002354.2;GI=EPCAM;FC=Silent;DC=c.904-12T>C;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.483:61,57:62/56:32/29,30/27:0:0.0 chr2 47403411 rs2303426 C G 0.0 Benign DP=7863;TI=NM_000251.2;GI=MSH2;FC=Silent;DC=c.211+9C>G;LO=INTRON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.447:4344,3516:3840/4023:2145/2199,1694/1822:5:0.0 chr2 47408384 . CTT C 0.0 R8.1;lowQ DP=391;TI=NM_000251.2;GI=MSH2;FC=Noncoding;DC=c.212-5_212-4delTT;LO=INTRON;EXON=2;oriDC=c.212-16_212-15delTT GT:VF:AD:SB:SA:SP:SO 0/1:0.020:288,8:241/150:175/113,5/3:0:NA chr2 47408477 . T A 0.0 lowQ DP=894;TI=NM_000251.2;GI=MSH2;FC=Synonymous;PC=R96=;DC=c.288T>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:882,12:431/463:426/456,5/7:2:0.1 chr2 47414420 . T TA 0.0 R8.1;lowQ DP=176;TI=NM_000251.2;GI=MSH2;FC=Noncoding;DC=c.942+29dupA;LO=INTRON;EXON=5;oriDC=c.942+3dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.017:74,3:108/68:45/29,2/1:1:NA chr2 47414420 . TA T 0.0 R8.1 DP=176;TI=NM_000251.2;GI=MSH2;FC=Noncoding;DC=c.942+29delA;LO=INTRON;EXON=5;oriDC=c.942+3delA GT:VF:AD:SB:SA:SP:SO 0/1:0.131:74,23:108/68:45/29,16/7:3:NA chr2 47414420 . TAA T 0.0 R8.1 DP=176;TI=NM_000251.2;GI=MSH2;FC=Noncoding;DC=c.942+28_942+29delAA;LO=INTRON;EXON=5;oriDC=c.942+3_942+4delAA;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.210:74,37:108/68:45/29,23/14:1:NA chr2 47414420 . TAAA T 0.0 R8.1 DP=176;TI=NM_000251.2;GI=MSH2;FC=Noncoding;DC=c.942+27_942+29delAAA;LO=INTRON;EXON=5;oriDC=c.942+3_942+5delAAA;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.153:74,27:108/68:45/29,16/11:1:NA chr2 47414420 . TAAAAA T 0.0 R8.1;lowQ DP=176;TI=NM_000251.2;GI=MSH2;FC=Noncoding;DC=c.942+25_942+29delAAAAA;LO=INTRON;EXON=5;oriDC=c.942+3_942+7delAAAAA;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.034:74,6:108/68:45/29,3/3:2:NA chr2 47414421 . A T 0.0 sb;lowQ DP=200;TI=NM_000251.2;GI=MSH2;FC=Silent;DC=c.942+3A>T;LO=INTRON;EXON=5;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.015:85,3:47/41:47/38,0/3:20:INF chr2 47783349 rs1042821 G A 0.0 Benign DP=7646;TI=NM_000179.2;GI=MSH6;FC=Missense;PC=G39E;DC=c.116G>A;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.472:4037,3607:3793/3851:2000/2037,1793/1814:1:0.0 chr2 47783419 rs1042820 C A 0.0 . DP=6546;TI=NM_000179.2;GI=MSH6;FC=Synonymous;PC=R62=;DC=c.186C>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.520:3143,3403:3254/3292:1562/1581,1692/1711:0:0.0 chr2 47790942 rs1800932 A G 0.0 . DP=1420;TI=NM_000179.2;GI=MSH6;FC=Synonymous;PC=P92=;DC=c.276A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.500:710,710:780/640:387/323,393/317:1:0.0 chr2 47795976 rs1800935 T C 0.0 . DP=3065;TI=NM_000179.2;GI=MSH6;FC=Synonymous;PC=D180=;DC=c.540T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.527:1451,1614:1509/1556:706/745,803/811:3:0.0 chr2 47803500 . AC A 0.0 lowQ DP=3181;TI=NM_000179.2;GI=MSH6;FC=Frameshift;PC=F1088fs;DC=c.3261delC;LO=EXON;EXON=5;oriDC=c.3254delC;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.013:3130,40:1547/1634:1523/1607,18/22:2:NA chr2 47813234 . C G 0.0 RV DP=588;TI=NM_025133.4;GI=FBXO11;FC=Missense;PC=G659R;DC=c.1975G>C;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.061:552,36:295/293:274/278,21/15:5:0.2 chr2 47818873 . TA T 0.0 R8.1;NC DP=114;TI=NM_025133.4;GI=FBXO11;FC=Noncoding;DC=c.1669-10delT;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.211:87,24:63/51:49/38,12/12:2:NA chr2 47832349 . C T 0.0 lowQ DP=234;TI=NM_025133.4;GI=FBXO11;FC=Missense;PC=M382I;DC=c.1146G>A;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:231,3:123/111:122/109,1/2:3:0.3 chr2 47832859 . C T 0.0 lowQ DP=310;TI=NM_025133.4;GI=FBXO11;FC=Missense;PC=A271T;DC=c.811G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:306,4:168/142:166/140,2/2:1:0.1 chr2 47834715 . GA G 0.0 lowQ;NC DP=135;TI=NM_025133.4;GI=FBXO11;FC=Noncoding;DC=c.550-5delT;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:132,3:72/63:70/62,2/1:2:NA chr2 47835996 . C T 0.0 lowQ DP=315;TI=NM_025133.4;GI=FBXO11;FC=Missense;PC=R114Q;DC=c.341G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:309,4:157/158:154/155,2/2:0:0.0 chr2 58161561 rs848291 A G 0.0 . DP=1222;TI=NM_018062.3;GI=FANCL;FC=Synonymous;PC=S327=;DC=c.981T>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.493:619,603:602/620:305/314,297/306:0:0.0 chr2 58163083 . T TA 0.0 R8.1;lowQ DP=515;TI=NM_018062.3;GI=FANCL;FC=Noncoding;DC=c.776-10dupT;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.043:475,22:245/270:226/249,11/11:1:NA chr2 58163083 . TA T 0.0 R8.1;lowQ DP=515;TI=NM_018062.3;GI=FANCL;FC=Noncoding;DC=c.776-10delT;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:475,13:245/270:226/249,6/7:0:NA chr2 60460824 rs7569946 A G 0.0 rs DP=2414;TI=NM_022893.3;GI=BCL11A;FC=Synonymous;PC=S696=;DC=c.2088T>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2414:1164/1250:0/0,1164/1250:0:INF chr2 60461440 . T A 0.0 sb;lowQ DP=1952;TI=NM_022893.3;GI=BCL11A;FC=Missense;PC=D491V;DC=c.1472A>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:1922,30:1013/939:1004/918,9/21:18:0.4 chr2 60920432 rs61748091 A C 0.0 lowQ;rs DP=252;TI=NM_002908.3;GI=REL;FC=Synonymous;PC=T324=;DC=c.972A>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:248,4:160/92:158/90,2/2:2:0.2 chr2 61485975 . G GA 0.0 lowQ DP=1096;TI=NM_003400.3;GI=XPO1;FC=Noncoding;DC=c.2314-14dupT;LO=INTRON;EXON=20;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1076,11:510/586:501/575,5/6:0:NA chr2 61492594 . T G 0.0 lowQ DP=1299;TI=NM_003400.3;GI=XPO1;FC=Missense;PC=E513D;DC=c.1539A>C;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:1271,25:644/655:630/641,13/12:1:0.0 chr2 61492600 . C G 0.0 lowQ DP=1387;TI=NM_003400.3;GI=XPO1;FC=Missense;PC=E511D;DC=c.1533G>C;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:1345,40:693/694:671/674,21/19:1:0.0 chr2 61498915 . T TA 0.0 R8.1 DP=541;TI=NM_003400.3;GI=XPO1;FC=Noncoding;DC=c.591-3dupT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.083:475,45:254/287:223/252,20/25:1:NA chr2 61498915 . TA T 0.0 R8.1;lowQ DP=541;TI=NM_003400.3;GI=XPO1;FC=Noncoding;DC=c.591-3delT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.037:475,20:254/287:223/252,10/10:1:NA chr2 61522612 . T G 0.0 lowQ DP=520;TI=NM_003400.3;GI=XPO1;FC=Missense;PC=E100D;DC=c.300A>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:511,9:268/252:263/248,5/4:1:0.1 chr2 96254042 . ATGC A 0.0 lowQ DP=7091;TI=NM_017849.3;GI=TMEM127;FC=CODON_DELETION;PC=Q160del;DC=c.480_482delGCA;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:7007,78:3465/3626:3427/3580,35/43:3:NA chr2 99593608 . G C 0.0 lowQ DP=800;TI=NM_001025108.1;GI=AFF3;FC=Missense;PC=Q710E;DC=c.2128C>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:784,16:392/408:385/399,7/9:2:0.1 chr2 99601548 . CGCT C 0.0 Benign DP=1655;TI=NM_001025108.1;GI=AFF3;FC=CODON_DELETION;PC=S444del;DC=c.1330_1332delAGC;LO=EXON;EXON=13;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.050:1553,83:832/820:784/769,41/42:1:NA chr2 99672603 . C A 0.0 lowQ DP=263;TI=NM_001025108.1;GI=AFF3;FC=Silent;DC=c.1167-14G>T;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:260,3:131/132:130/130,1/2:2:0.3 chr2 108730837 . T C 0.0 lowQ;FP DP=319;TI=NM_006267.4;GI=RANBP2;FC=Synonymous;PC=L68=;DC=c.204T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:315,4:154/165:152/163,2/2:0:0.0 chr2 108751621 . C T 0.0 lowQ;FP DP=210;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=L517F;DC=c.1549C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:207,3:117/93:115/92,2/1:2:0.2 chr2 108755164 rs542446071 A AT 0.0 R8.1;lowQ;FP;NC;rs DP=540;TI=NM_006267.4;GI=RANBP2;FC=Noncoding;DC=c.2383-3dupT;LO=INTRON;EXON=17;oriDC=c.2383-11dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.015:523,8:267/273:257/266,5/3:3:NA chr2 108755164 . AT A 0.0 R8.1;lowQ;FP;NC DP=540;TI=NM_006267.4;GI=RANBP2;FC=Noncoding;DC=c.2383-3delT;LO=INTRON;EXON=17;oriDC=c.2383-11delT GT:VF:AD:SB:SA:SP:SO 0/1:0.013:523,7:267/273:257/266,4/3:2:NA chr2 108763892 . G C 0.0 lowQ DP=373;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=S1118T;DC=c.3353G>C;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:369,4:180/193:178/191,2/2:0:0.0 chr2 108764121 . CT C 0.0 lowQ DP=358;TI=NM_006267.4;GI=RANBP2;FC=Frameshift;PC=C1196fs;DC=c.3586delT;LO=EXON;EXON=20;oriDC=c.3583delT GT:VF:AD:SB:SA:SP:SO 0/1:0.011:354,4:173/185:171/183,2/2:0:NA chr2 108764248 . G C 0.0 lowQ DP=251;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=E1237Q;DC=c.3709G>C;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:248,3:128/123:127/121,1/2:3:0.3 chr2 108764999 . C T 0.0 lowQ DP=375;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=A1487V;DC=c.4460C>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:371,4:200/175:198/173,2/2:0:0.1 chr2 108765381 . G A 0.0 lowQ;FP DP=375;TI=NM_006267.4;GI=RANBP2;FC=Synonymous;PC=V1614=;DC=c.4842G>A;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:371,4:170/205:169/202,1/3:4:0.4 chr2 108765430 . A T 0.0 lowQ;FP DP=338;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=N1631Y;DC=c.4891A>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:334,4:150/188:148/186,2/2:1:0.1 chr2 108765431 . A G 0.0 lowQ;FP DP=339;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=N1631S;DC=c.4892A>G;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:335,4:150/189:148/187,2/2:1:0.1 chr2 108766255 . G A 0.0 lowQ;FP DP=466;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=G1906R;DC=c.5716G>A;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:459,6:244/222:241/218,3/3:0:0.0 chr2 108767152 . G C 0.0 FP DP=504;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=G2205R;DC=c.6613G>C;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.506:248,255:263/241:128/120,135/120:1:0.0 chr2 108767711 . C G 0.0 sb;lowQ;FP DP=813;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=T2391S;DC=c.7172C>G;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:803,10:427/386:418/385,9/1:18:0.9 chr2 108772932 . A C 0.0 lowQ DP=483;TI=NM_006267.4;GI=RANBP2;FC=Synonymous;PC=A2726=;DC=c.8178A>C;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:476,7:241/242:237/239,4/3:2:0.1 chr2 108773007 rs826580 G A 0.0 rs DP=332;TI=NM_006267.4;GI=RANBP2;FC=Synonymous;PC=E2751=;DC=c.8253G>A;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,332:158/174:0/0,158/174:0:INF chr2 108775797 . G A 0.0 lowQ DP=366;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=M2786I;DC=c.8358G>A;LO=EXON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:362,4:188/178:186/176,2/2:0:0.0 chr2 108775898 . C T 0.0 lowQ DP=282;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=S2820L;DC=c.8459C>T;LO=EXON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:279,3:137/145:136/143,1/2:2:0.3 chr2 108783895 . G T 0.0 lowQ DP=319;TI=NM_006267.4;GI=RANBP2;FC=Missense;PC=Q3223H;DC=c.9669G>T;LO=EXON;EXON=29 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:315,4:142/177:140/175,2/2:1:0.1 chr2 111150108 . G A 0.0 lowQ DP=313;TI=NM_138621.4;GI=BCL2L11;FC=Synonymous;PC=R153=;DC=c.459G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:309,4:146/167:144/165,2/2:0:0.1 chr2 111150114 rs724710 T C 0.0 rs DP=296;TI=NM_138621.4;GI=BCL2L11;FC=Synonymous;PC=I155=;DC=c.465T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.527:140,156:135/161:64/76,71/85:0:0.0 chr2 111945051 . G T 0.0 . DP=196;TI=NM_006343.2;GI=MERTK;FC=Nonsense;PC=E192*;DC=c.574G>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.362:125,71:93/103:61/64,32/39:2:0.1 chr2 111968226 . T C 0.0 lowQ DP=347;TI=NM_006343.2;GI=MERTK;FC=Missense;PC=S312P;DC=c.934T>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:343,4:167/180:165/178,2/2:0:0.0 chr2 112003083 . CT C 0.0 lowQ;NC DP=295;TI=NM_006343.2;GI=MERTK;FC=Noncoding;DC=c.1691-4delT;LO=INTRON;EXON=12;oriDC=c.1691-8delT GT:VF:AD:SB:SA:SP:SO 0/1:0.010:292,3:159/136:157/135,2/1:2:NA chr2 112028553 . A G 0.0 lowQ DP=1169;TI=NM_006343.2;GI=MERTK;FC=Missense;PC=I897V;DC=c.2689A>G;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:1146,23:615/554:601/545,14/9:4:0.1 chr2 113218620 . T TA 0.0 R8.1;lowQ;NC DP=1063;TI=NM_003466.3;GI=PAX8;FC=Noncoding;DC=c.1277-12dupT;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:1023,29:511/552:493/530,13/16:1:NA chr2 113218620 . TA T 0.0 R8.1;lowQ;NC DP=1063;TI=NM_003466.3;GI=PAX8;FC=Noncoding;DC=c.1277-12delT;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1023,11:511/552:493/530,5/6:1:NA chr2 120968871 rs2592595 G A 0.0 . DP=1583;TI=NM_005270.4;GI=GLI2;FC=Synonymous;PC=S267=;DC=c.801G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1583:717/866:0/0,717/866:0:INF chr2 120989380 rs3738880 G T 0.0 Benign DP=2578;TI=NM_005270.4;GI=GLI2;FC=Missense;PC=A1156S;DC=c.3466G>T;LO=EXON;EXON=13;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,2576:1280/1298:0/0,1279/1297:0:INF chr2 120989830 rs12711538 G A 0.0 Benign DP=2610;TI=NM_005270.4;GI=GLI2;FC=Missense;PC=D1306N;DC=c.3916G>A;LO=EXON;EXON=13;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,2608:1282/1328:1/1,1281/1327:0:0.0 chr2 120989853 rs10167980 A G 0.0 . DP=2541;TI=NM_005270.4;GI=GLI2;FC=Synonymous;PC=P1313=;DC=c.3939A>G;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:4,2535:1233/1308:2/2,1230/1305:0:0.0 chr2 127272856 . C T 0.0 lowQ DP=197;TI=NM_000122.1;GI=ERCC3;FC=Silent;DC=c.1827+9G>A;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:193,4:108/89:106/87,2/2:1:0.1 chr2 140234778 rs78797806 T C 0.0 rs DP=137;TI=NM_018557.2;GI=LRP1B;FC=Silent;DC=c.13659+8A>G;LO=INTRON;EXON=90 GT:VF:AD:SB:SA:SP:SO 0/1:0.533:64,73:70/67:32/32,38/35:1:0.0 chr2 140274519 rs1386356 C T 0.0 rs DP=290;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=T4349=;DC=c.13047G>A;LO=EXON;EXON=85 GT:VF:AD:SB:SA:SP:SO 0/1:0.503:144,146:147/143:75/69,72/74:2:0.0 chr2 140274523 . G T 0.0 lowQ DP=303;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=P4348Q;DC=c.13043C>A;LO=EXON;EXON=85 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:299,4:154/149:152/147,2/2:0:0.0 chr2 140370727 . T C 0.0 lowQ DP=384;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=E3664G;DC=c.10991A>G;LO=EXON;EXON=71 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:380,4:195/189:193/187,2/2:0:0.0 chr2 140386011 . T A 0.0 lowQ DP=219;TI=NM_018557.2;GI=LRP1B;FC=Splicing;DC=c.10415-2A>T;LO=SPLICING;EXON=67 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:215,4:101/118:99/116,2/2:1:0.1 chr2 140444463 . GGA G 0.0 lowQ;NC DP=501;TI=NM_018557.2;GI=LRP1B;FC=Noncoding;DC=c.10175-16_10175-15delTC;LO=INTRON;EXON=65 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:487,9:269/230:263/224,4/5:2:NA chr2 140450574 . C T 0.0 lowQ DP=128;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=D3351N;DC=c.10051G>A;LO=EXON;EXON=63 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:124,3:67/61:65/59,1/2:3:0.3 chr2 140501699 . C T 0.0 lowQ DP=267;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=P2946=;DC=c.8838G>A;LO=EXON;EXON=55 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:264,3:150/117:149/115,1/2:4:0.4 chr2 140501878 rs202023981 G GA 0.0 lowQ;NC;rs DP=327;TI=NM_018557.2;GI=LRP1B;FC=Noncoding;DC=c.8663-5dupT;LO=INTRON;EXON=55 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:319,6:148/179:144/175,3/3:1:NA chr2 140503059 . G A 0.0 lowQ DP=384;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=R2856W;DC=c.8566C>T;LO=EXON;EXON=54 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:380,4:188/196:186/194,2/2:0:0.0 chr2 140503099 rs4444457 A G 0.0 rs DP=330;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=Y2842=;DC=c.8526T>C;LO=EXON;EXON=54 GT:VF:AD:SB:SA:SP:SO 0/1:0.497:166,164:158/172:81/85,77/87:1:0.0 chr2 140517007 rs4954672 T C 0.0 rs DP=289;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=Q2677=;DC=c.8031A>G;LO=EXON;EXON=50 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,289:135/154:0/0,135/154:0:INF chr2 140525872 . T C 0.0 lowQ DP=261;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=G2666=;DC=c.7998A>G;LO=EXON;EXON=49 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:257,4:140/121:138/119,2/2:1:0.1 chr2 140526263 . G T 0.0 lowQ DP=192;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=A2617E;DC=c.7850C>A;LO=EXON;EXON=48 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:189,3:92/100:91/98,1/2:2:0.3 chr2 140536716 . G GA 0.0 R8.1;NC DP=148;TI=NM_018557.2;GI=LRP1B;FC=Noncoding;DC=c.7514-8dupT;LO=INTRON;EXON=46 GT:VF:AD:SB:SA:SP:SO 0/1:0.068:120,10:75/73:61/59,5/5:0:NA chr2 140536716 . G GAA 0.0 R8.1;lowQ;NC DP=148;TI=NM_018557.2;GI=LRP1B;FC=Noncoding;DC=c.7514-9_7514-8dupTT;LO=INTRON;EXON=46 GT:VF:AD:SB:SA:SP:SO 0/1:0.034:120,5:75/73:61/59,3/2:2:NA chr2 140536716 . GA G 0.0 R8.1;NC DP=148;TI=NM_018557.2;GI=LRP1B;FC=Noncoding;DC=c.7514-8delT;LO=INTRON;EXON=46 GT:VF:AD:SB:SA:SP:SO 0/1:0.074:120,11:75/73:61/59,5/6:1:NA chr2 140540975 . A G 0.0 lowQ DP=330;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=V2504A;DC=c.7511T>C;LO=EXON;EXON=45 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:326,4:175/155:173/153,2/2:0:0.1 chr2 140601473 . C T 0.0 lowQ DP=381;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=V2322=;DC=c.6966G>A;LO=EXON;EXON=42 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:376,5:205/176:202/174,3/2:1:0.1 chr2 140700497 . C T 0.0 lowQ DP=268;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=R2184=;DC=c.6552G>A;LO=EXON;EXON=41 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:265,3:130/138:128/137,2/1:3:0.3 chr2 140700615 . T C 0.0 lowQ DP=181;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=N2145S;DC=c.6434A>G;LO=EXON;EXON=41 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:178,3:77/104:75/103,2/1:4:0.4 chr2 140701759 . A G 0.0 lowQ DP=326;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=L2130P;DC=c.6389T>C;LO=EXON;EXON=40 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:322,4:175/151:173/149,2/2:1:0.1 chr2 140701833 . G A 0.0 lowQ DP=345;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=N2105=;DC=c.6315C>T;LO=EXON;EXON=40 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:341,4:175/170:173/168,2/2:0:0.0 chr2 140702169 . A G 0.0 lowQ DP=318;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=F2092L;DC=c.6274T>C;LO=EXON;EXON=39 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:314,4:166/152:164/150,2/2:0:0.0 chr2 140702458 . G A 0.0 lowQ DP=310;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=A2040V;DC=c.6119C>T;LO=EXON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:304,4:161/149:158/146,2/2:0:0.0 chr2 140776093 rs996361 T C 0.0 rs DP=242;TI=NM_018557.2;GI=LRP1B;FC=Silent;DC=c.5500+5A>G;LO=INTRON;EXON=33 GT:VF:AD:SB:SA:SP:SO 0/1:0.558:107,135:124/118:55/52,69/66:0:0.0 chr2 140813760 rs3749010 T C 0.0 rs DP=396;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=S1752=;DC=c.5256A>G;LO=EXON;EXON=32 GT:VF:AD:SB:SA:SP:SO 0/1:0.477:207,189:189/207:101/106,88/101:2:0.0 chr2 140850132 . C T 0.0 lowQ DP=447;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=G1637R;DC=c.4909G>A;LO=EXON;EXON=29 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:442,5:230/217:228/214,2/3:2:0.2 chr2 140868265 . T TA 0.0 R8.1;lowQ;NC DP=32;TI=NM_018557.2;GI=LRP1B;FC=Noncoding;DC=c.4170-3dupT;LO=INTRON;EXON=26 GT:VF:AD:SB:SA:SP:SO 0/1:0.094:27,3:19/13:15/12,2/1:1:NA chr2 140886214 . G C 0.0 lowQ DP=289;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=H1296Q;DC=c.3888C>G;LO=EXON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:286,3:146/143:144/142,2/1:2:0.3 chr2 140903180 . G A 0.0 . DP=278;TI=NM_018557.2;GI=LRP1B;FC=Silent;DC=c.3521-15C>T;LO=INTRON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.417:162,116:126/152:73/89,53/63:0:0.0 chr2 140951850 rs1429348 T G 0.0 rs DP=304;TI=NM_018557.2;GI=LRP1B;FC=Silent;DC=c.2968+10A>C;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,304:161/143:0/0,161/143:0:INF chr2 140994029 rs79742952 G A 0.0 lowQ;rs DP=396;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=C870=;DC=c.2610C>T;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:392,4:201/195:199/193,2/2:0:0.0 chr2 141015905 . A G 0.0 lowQ DP=334;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=W661R;DC=c.1981T>C;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:324,10:150/184:145/179,5/5:1:0.1 chr2 141015910 . A G 0.0 lowQ DP=318;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=M659T;DC=c.1976T>C;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:314,4:147/171:145/169,2/2:1:0.1 chr2 141059052 rs1525579 A G 0.0 rs DP=262;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=V413=;DC=c.1239T>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,262:123/139:0/0,123/139:0:INF chr2 141062064 . A T 0.0 lowQ DP=297;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=I408N;DC=c.1223T>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:294,3:160/137:159/135,1/2:3:0.4 chr2 141188465 . C T 0.0 lowQ DP=289;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=L323=;DC=c.969G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:285,4:148/141:146/139,2/2:0:0.0 chr2 141229247 . G T 0.0 lowQ DP=285;TI=NM_018557.2;GI=LRP1B;FC=Synonymous;PC=I262=;DC=c.786C>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:282,3:137/148:136/146,1/2:2:0.3 chr2 141229399 . C A 0.0 lowQ DP=152;TI=NM_018557.2;GI=LRP1B;FC=Nonsense;PC=E212*;DC=c.634G>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:149,3:70/82:69/80,1/2:2:0.2 chr2 141810341 rs12990449 T C 0.0 rs DP=504;TI=NM_018557.2;GI=LRP1B;FC=Missense;PC=Q48R;DC=c.143A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.518:243,261:258/246:124/119,134/127:0:0.0 chr2 157770468 rs1146031 C T 0.0 . DP=1882;TI=NM_001105.4;GI=ACVR1;FC=Synonymous;PC=E230=;DC=c.690G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,1880:920/962:1/1,919/961:0:0.0 chr2 157780398 rs2227861 G A 0.0 . DP=4815;TI=NM_001105.4;GI=ACVR1;FC=Synonymous;PC=A90=;DC=c.270C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,4813:2511/2304:0/0,2511/2302:0:INF chr2 168932506 rs497692 T C 0.0 rs DP=655;TI=NM_003742.2;GI=ABCB11;FC=Synonymous;PC=A1028=;DC=c.3084A>G;LO=EXON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.490:334,321:316/339:164/170,152/169:2:0.0 chr2 168935411 . G T 0.0 lowQ DP=247;TI=NM_003742.2;GI=ABCB11;FC=Synonymous;PC=A943=;DC=c.2829C>A;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:243,4:112/135:110/133,2/2:1:0.1 chr2 168970063 rs11568371 C A 0.0 rs DP=350;TI=NM_003742.2;GI=ABCB11;FC=Synonymous;PC=V597=;DC=c.1791G>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.474:184,166:180/170:96/88,84/82:1:0.0 chr2 168970082 rs11568367 T C 0.0 rs DP=412;TI=NM_003742.2;GI=ABCB11;FC=Missense;PC=N591S;DC=c.1772A>G;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.485:212,200:209/203:109/103,100/100:1:0.0 chr2 168979861 . C A 0.0 sb;lowQ DP=146;TI=NM_003742.2;GI=ABCB11;FC=Silent;DC=c.1197+5G>T;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:143,3:53/93:50/93,3/0:17:INF chr2 168979927 . C A 0.0 sb;lowQ DP=259;TI=NM_003742.2;GI=ABCB11;FC=Missense;PC=C379F;DC=c.1136G>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:256,3:118/141:115/141,3/0:20:INF chr2 168979939 . T A 0.0 lowQ DP=260;TI=NM_003742.2;GI=ABCB11;FC=Missense;PC=N375I;DC=c.1124A>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:257,3:116/144:114/143,2/1:4:0.4 chr2 168986299 rs2287618 T C 0.0 rs DP=237;TI=NM_003742.2;GI=ABCB11;FC=Silent;DC=c.909-15A>G;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.426:136,101:99/138:57/79,42/59:0:0.0 chr2 172570833 . G T 0.0 sb;lowQ DP=198;TI=NM_002610.4;GI=PDK1;FC=Silent;DC=c.945+9G>T;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:195,3:110/88:110/85,0/3:20:INF chr2 174812361 . G A 0.0 lowQ DP=473;TI=NM_001822.5;GI=CHN1;FC=Synonymous;PC=T278=;DC=c.834C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:467,6:244/229:241/226,3/3:0:0.0 chr2 174824521 . G GA 0.0 R8.1;NC DP=256;TI=NM_001822.5;GI=CHN1;FC=Noncoding;DC=c.628-4dupT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.078:210,20:126/130:105/105,9/11:2:NA chr2 174824521 . G GAA 0.0 R8.1;lowQ;NC DP=256;TI=NM_001822.5;GI=CHN1;FC=Noncoding;DC=c.628-5_628-4dupTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:210,3:126/130:105/105,2/1:2:NA chr2 174824521 . GA G 0.0 R8.1;NC DP=256;TI=NM_001822.5;GI=CHN1;FC=Noncoding;DC=c.628-4delT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.066:210,17:126/130:105/105,7/10:3:NA chr2 174824521 . GAA G 0.0 R8.1;lowQ;NC DP=256;TI=NM_001822.5;GI=CHN1;FC=Noncoding;DC=c.628-5_628-4delTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:210,6:126/130:105/105,3/3:0:NA chr2 176093057 . GGGC G 0.0 lowQ DP=1345;TI=NM_000523.3;GI=HOXD13;FC=CODON_DELETION;PC=A61del;DC=c.180_182delGGC;LO=EXON;EXON=1;oriDC=c.168_170delGGC;oriPC=A57del GT:VF:AD:SB:SA:SP:SO 0/1:0.016:1320,21:704/639:692/628,11/10:0:NA chr2 176093094 rs2518053 G A 0.0 rs DP=1475;TI=NM_000523.3;GI=HOXD13;FC=Synonymous;PC=A68=;DC=c.204G>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.492:749,726:764/711:386/363,378/348:1:0.0 chr2 177231096 . T G 0.0 sb;lowQ DP=1406;TI=NM_006164.4;GI=NFE2L2;FC=Synonymous;PC=R503=;DC=c.1507A>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.041:1346,58:729/677:706/640,22/36:15:0.3 chr2 177231813 . T C 0.0 lowQ DP=1877;TI=NM_006164.4;GI=NFE2L2;FC=Missense;PC=N264D;DC=c.790A>G;LO=EXON;EXON=5;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1857,20:900/977:889/968,11/9:3:0.1 chr2 189854896 . A C 0.0 lowQ DP=214;TI=NM_000534.4;GI=PMS1;FC=Missense;PC=N542H;DC=c.1624A>C;LO=EXON;EXON=9;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.014:211,3:106/108:104/107,2/1:3:0.3 chr2 189854899 . G T 0.0 lowQ DP=205;TI=NM_000534.4;GI=PMS1;FC=Nonsense;PC=E543*;DC=c.1627G>T;LO=EXON;EXON=9;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.015:202,3:101/104:99/103,2/1:3:0.3 chr2 189863773 . A C 0.0 lowQ DP=360;TI=NM_000534.4;GI=PMS1;FC=Missense;PC=E629D;DC=c.1887A>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:355,4:185/175:183/172,2/2:0:0.0 chr2 189863787 . A G 0.0 lowQ DP=392;TI=NM_000534.4;GI=PMS1;FC=Missense;PC=Q634R;DC=c.1901A>G;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:388,4:203/189:201/187,2/2:0:0.0 chr2 191031036 . G T 0.0 lowQ DP=216;TI=NM_003151.3;GI=STAT4;FC=Missense;PC=P719H;DC=c.2156C>A;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:213,3:106/110:104/109,2/1:3:0.3 chr2 191058115 rs3024866 G A 0.0 rs DP=874;TI=NM_003151.3;GI=STAT4;FC=Silent;DC=c.1113-4C>T;LO=INTRON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.457:475,399:430/444:232/243,198/201:1:0.0 chr2 191066455 . A G 0.0 lowQ DP=230;TI=NM_003151.3;GI=STAT4;FC=Missense;PC=L202P;DC=c.605T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:225,3:118/112:116/109,1/2:3:0.3 chr2 191076259 . T G 0.0 lowQ DP=288;TI=NM_003151.3;GI=STAT4;FC=Synonymous;PC=R114=;DC=c.340A>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:284,4:142/146:140/144,2/2:0:0.0 chr2 191076328 . G GA 0.0 R8.1;lowQ;NC DP=205;TI=NM_003151.3;GI=STAT4;FC=Noncoding;DC=c.274-4dupT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.044:189,9:108/97:98/91,6/3:4:NA chr2 191076328 . GA G 0.0 R8.1;lowQ;NC DP=205;TI=NM_003151.3;GI=STAT4;FC=Noncoding;DC=c.274-4delT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:189,6:108/97:98/91,3/3:0:NA chr2 191146759 . T TA 0.0 R8.1;NC DP=205;TI=NM_003151.3;GI=STAT4;FC=Noncoding;DC=c.129-3dupT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.146:157,30:103/102:78/79,16/14:1:NA chr2 191146759 . TA T 0.0 R8.1;NC DP=205;TI=NM_003151.3;GI=STAT4;FC=Noncoding;DC=c.129-3delT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.083:157,17:103/102:78/79,8/9:1:NA chr2 197393071 rs4685 T C 0.0 . DP=1659;TI=NM_012433.3;GI=SF3B1;FC=Synonymous;PC=V1219=;DC=c.3657A>G;LO=EXON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.513:808,851:884/775:428/380,456/395:1:0.0 chr2 197396314 . A G 0.0 lowQ DP=1125;TI=NM_012433.3;GI=SF3B1;FC=Missense;PC=L1094S;DC=c.3281T>C;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1110,15:495/630:486/624,9/6:7:0.3 chr2 197400449 rs788017 T A 0.0 . DP=666;TI=NM_012433.3;GI=SF3B1;FC=Silent;DC=c.2719-15A>T;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.500:333,333:306/360:155/178,151/182:1:0.0 chr2 197400802 rs788018 A G 0.0 . DP=1656;TI=NM_012433.3;GI=SF3B1;FC=Synonymous;PC=G877=;DC=c.2631T>C;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.508:810,841:832/824:409/401,421/420:1:0.0 chr2 197400851 . G A 0.0 lowQ DP=1694;TI=NM_012433.3;GI=SF3B1;FC=Missense;PC=A861V;DC=c.2582C>T;LO=EXON;EXON=18;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.030:1643,51:831/863:811/832,20/31:8:0.2 chr2 197403046 rs3217350 G GAA 0.0 Benign DP=736;TI=NM_012433.3;GI=SF3B1;FC=Noncoding;DC=c.1720-13_1720-12dupTT;LO=INTRON;EXON=13;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.496:371,365:344/392:180/191,164/201:5:NA chr2 197416813 . C T 0.0 lowQ DP=1494;TI=NM_012433.3;GI=SF3B1;FC=Synonymous;PC=R198=;DC=c.594G>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1478,16:782/712:774/704,8/8:1:0.0 chr2 197418581 rs788023 T C 0.0 . DP=906;TI=NM_012433.3;GI=SF3B1;FC=Synonymous;PC=K141=;DC=c.423A>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.448:500,406:434/472:238/262,196/210:1:0.0 chr2 201274956 . A AC 0.0 lowQ DP=193;TI=NM_001228.4;GI=CASP8;FC=Noncoding;DC=c.711+3_711+4insC;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:189,4:90/103:88/101,2/2:0:NA chr2 201284866 rs1045485 G C 0.0 Benign DP=615;TI=NM_001228.4;GI=CASP8;FC=Missense;PC=D302H;DC=c.904G>C;LO=EXON;EXON=9;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.281:439,173:298/317:206/233,90/83:6:0.1 chr2 203867991 rs231775 A G 0.0 rs DP=480;TI=NM_005214.4;GI=CTLA4;FC=Missense;PC=T17A;DC=c.49A>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.487:246,234:243/237:124/122,119/115:0:0.0 chr2 207596901 . C A 0.0 lowQ DP=368;TI=NM_134442.4;GI=CREB1;FC=Silent;DC=c.882-13C>A;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:364,4:204/164:202/162,2/2:1:0.1 chr2 208237181 rs57383668 GA G 0.0 R8.1 DP=908;TI=NM_005896.3;GI=IDH1;FC=Noncoding;DC=c.1155-13delT;LO=INTRON;EXON=10;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.911:74,827:475/433:42/32,431/396:4:NA chr2 208243593 rs34218846 C T 0.0 Benign DP=1567;TI=NM_005896.3;GI=IDH1;FC=Missense;PC=V178I;DC=c.532G>A;LO=EXON;EXON=6;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.475:819,745:709/858:372/447,336/409:0:0.0 chr2 208245437 . GA G 0.0 lowQ DP=786;TI=NM_005896.3;GI=IDH1;FC=Noncoding;DC=c.415-14delT;LO=INTRON;EXON=5;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.010:778,8:393/393:389/389,4/4:0:NA chr2 208248468 rs11554137 G A 0.0 . DP=2033;TI=NM_005896.3;GI=IDH1;FC=Synonymous;PC=G105=;DC=c.315C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.489:1037,994:1027/1006:525/512,501/493:0:0.0 chr2 211387139 rs3748962 T C 0.0 . DP=2533;TI=NM_005235.2;GI=ERBB4;FC=Synonymous;PC=V1065=;DC=c.3195A>G;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.516:1224,1307:1077/1456:522/702,554/753:0:0.0 chr2 211679199 rs4673628 A G 0.0 . DP=2040;TI=NM_005235.2;GI=ERBB4;FC=Silent;DC=c.1490-15T>C;LO=INTRON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.480:1060,980:961/1079:503/557,458/522:1:0.0 chr2 211705391 . C A 0.0 lowQ DP=560;TI=NM_005235.2;GI=ERBB4;FC=Synonymous;PC=G375=;DC=c.1125G>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:554,6:274/286:272/282,2/4:4:0.3 chr2 211713654 . T TA 0.0 R8.1 DP=525;TI=NM_005235.2;GI=ERBB4;FC=Noncoding;DC=c.884-7dupT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.082:403,43:257/268:199/204,20/23:1:NA chr2 211713654 . T TAA 0.0 R8.1;lowQ DP=525;TI=NM_005235.2;GI=ERBB4;FC=Noncoding;DC=c.884-8_884-7dupTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:403,8:257/268:199/204,4/4:0:NA chr2 211713654 rs67894136 TA T 0.0 R8.1 DP=525;TI=NM_005235.2;GI=ERBB4;FC=Noncoding;DC=c.884-7delT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.110:403,58:257/268:199/204,27/31:2:NA chr2 211713654 . TAA T 0.0 R8.1;lowQ DP=525;TI=NM_005235.2;GI=ERBB4;FC=Noncoding;DC=c.884-8_884-7delTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:403,12:257/268:199/204,6/6:0:NA chr2 214767532 rs2070093 A G 0.0 . DP=1661;TI=NM_000465.3;GI=BARD1;FC=Synonymous;PC=H506=;DC=c.1518T>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.509:814,846:826/835:407/407,419/427:1:0.0 chr2 214780778 rs28997575 GTGGTGAAGAACATTCAGGCAA G 0.0 Benign DP=1763;TI=NM_000465.3;GI=BARD1;FC=CODON_DELETION;PC=L359_P365del;DC=c.1075_1095del21;LO=EXON;EXON=4;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.494:892,871:880/883:453/439,427/444:0:INF chr2 214780821 rs2070096 C G 0.0 . DP=1810;TI=NM_000465.3;GI=BARD1;FC=Synonymous;PC=T351=;DC=c.1053G>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.496:906,898:906/904:443/463,460/438:5:0.0 chr2 214781423 . T G 0.0 lowQ DP=1493;TI=NM_000465.3;GI=BARD1;FC=Missense;PC=S151R;DC=c.451A>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1476,16:767/726:758/718,9/7:2:0.1 chr2 214792458 rs56130510 TA T 0.0 R8.1 DP=95;TI=NM_000465.3;GI=BARD1;FC=Noncoding;DC=c.216-14delT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.474:29,45:49/46:16/13,24/21:1:NA chr2 214792458 . TAA T 0.0 R8.1 DP=95;TI=NM_000465.3;GI=BARD1;FC=Noncoding;DC=c.216-15_216-14delTT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.200:29,19:49/46:16/13,8/11:4:NA chr2 215318197 . G C 0.0 lowQ DP=755;TI=NM_004044.6;GI=ATIC;FC=Missense;PC=G63R;DC=c.187G>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:739,16:386/369:379/360,7/9:3:0.1 chr2 215318197 . G GC 0.0 lowQ DP=748;TI=NM_004044.6;GI=ATIC;FC=Frameshift;PC=G63fs;DC=c.187_188insC;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:738,10:382/366:377/361,5/5:0:NA chr2 215325297 rs2372536 C G 0.0 rs DP=456;TI=NM_004044.6;GI=ATIC;FC=Missense;PC=T116S;DC=c.347C>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.489:231,223:207/249:104/127,102/121:1:0.0 chr2 222201439 . G A 0.0 lowQ DP=173;TI=NM_181458.3;GI=PAX3;FC=Missense;PC=A475V;DC=c.1424C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:169,4:88/85:86/83,2/2:0:0.0 chr2 222297170 rs12623857 A G 0.0 rs DP=1354;TI=NM_181458.3;GI=PAX3;FC=Synonymous;PC=G43=;DC=c.129T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,1352:604/750:1/1,603/749:0:0.1 chr2 222916453 . G C 0.0 lowQ DP=413;TI=NM_004457.4;GI=ACSL3;FC=Missense;PC=E171D;DC=c.513G>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:407,6:215/198:212/195,3/3:0:0.0 chr2 222922841 rs11891410 G A 0.0 rs DP=168;TI=NM_004457.4;GI=ACSL3;FC=Silent;DC=c.1080+10G>A;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,168:69/99:0/0,69/99:0:INF chr2 222923112 . C T 0.0 lowQ DP=344;TI=NM_004457.4;GI=ACSL3;FC=Missense;PC=T372I;DC=c.1115C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:340,4:177/167:175/165,2/2:0:0.0 chr2 222941489 . C A 0.0 sb;lowQ DP=227;TI=NM_004457.4;GI=ACSL3;FC=Silent;DC=c.2006-8C>A;LO=INTRON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:224,3:83/144:80/144,3/0:17:INF chr2 222941532 . C T 0.0 lowQ DP=368;TI=NM_004457.4;GI=ACSL3;FC=Missense;PC=R681C;DC=c.2041C>T;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:361,4:157/211:152/209,2/2:1:0.1 chr2 224557668 . G T 0.0 lowQ DP=327;TI=NM_003590.4;GI=CUL3;FC=Synonymous;PC=L85=;DC=c.255C>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:323,4:179/148:177/146,2/2:1:0.1 chr2 224557799 . G T 0.0 lowQ DP=374;TI=NM_003590.4;GI=CUL3;FC=Missense;PC=Q42K;DC=c.124C>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:370,4:181/193:181/189,0/4:13:INF chr2 224557830 . G T 0.0 sb;lowQ;Benign DP=263;TI=NM_003590.4;GI=CUL3;FC=Missense;PC=N31K;DC=c.93C>A;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.023:255,6:129/134:128/127,0/6:18:INF chr2 224557835 . C A 0.0 sb;lowQ DP=232;TI=NM_003590.4;GI=CUL3;FC=Missense;PC=V30L;DC=c.88G>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:228,4:113/119:113/115,0/4:13:INF chr2 232014958 . C T 0.0 lowQ DP=377;TI=NM_152383.4;GI=DIS3L2;FC=Missense;PC=R11W;DC=c.31C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:373,4:185/192:183/190,2/2:0:0.0 chr2 232014979 . G A 0.0 lowQ DP=339;TI=NM_152383.4;GI=DIS3L2;FC=Missense;PC=G18S;DC=c.52G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:335,4:166/173:164/171,2/2:0:0.0 chr2 232087576 rs11887184 A G 0.0 rs DP=475;TI=NM_152383.4;GI=DIS3L2;FC=Synonymous;PC=Q152=;DC=c.456A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,475:249/226:0/0,249/226:0:INF chr2 232336578 . A G 0.0 lowQ DP=1530;TI=NM_152383.4;GI=DIS3L2;FC=Missense;PC=E869G;DC=c.2606A>G;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1514,16:705/825:695/819,10/6:7:0.3 chr2 241851121 . A G 0.0 . DP=2940;TI=NM_005018.2;GI=PDCD1;FC=Synonymous;PC=A268=;DC=c.804T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.505:1453,1485:1566/1374:775/678,790/695:0:0.0 chr3 8985599 . AGCT A 0.0 lowQ DP=2126;TI=NM_014850.3;GI=SRGAP3;FC=CODON_DELETION;PC=S1073del;DC=c.3217_3219delAGC;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:2089,34:1176/950:1155/934,19/15:0:NA chr3 9053107 . C T 0.0 lowQ DP=712;TI=NM_014850.3;GI=SRGAP3;FC=Missense;PC=A415T;DC=c.1243G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:704,8:363/349:359/345,4/4:0:0.0 chr3 10035158 . C CT 0.0 R8.1;lowQ DP=1015;TI=NM_033084.4;GI=FANCD2;FC=Noncoding;DC=c.378-5dupT;LO=INTRON;EXON=6;oriDC=c.378-14dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.046:919,47:548/467:498/421,25/22:0:NA chr3 10035158 . CT C 0.0 R8.1;lowQ DP=1015;TI=NM_033084.4;GI=FANCD2;FC=Noncoding;DC=c.378-5delT;LO=INTRON;EXON=6;oriDC=c.378-14delT GT:VF:AD:SB:SA:SP:SO 0/1:0.047:919,48:548/467:498/421,25/23:1:NA chr3 10046582 . G T 0.0 . DP=1704;TI=NM_033084.4;GI=FANCD2;FC=Synonymous;PC=V379=;DC=c.1137G>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.198:1367,337:879/825:711/656,168/169:3:0.0 chr3 10046615 . C T 0.0 . DP=2059;TI=NM_033084.4;GI=FANCD2;FC=Synonymous;PC=S390=;DC=c.1170C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.227:1591,467:1029/1030:798/793,230/237:1:0.0 chr3 10046624 . T C 0.0 . DP=2133;TI=NM_033084.4;GI=FANCD2;FC=Synonymous;PC=T393=;DC=c.1179T>C;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.241:1618,515:1059/1074:806/812,253/262:1:0.0 chr3 10046659 . A G 0.0 Benign DP=2209;TI=NM_033084.4;GI=FANCD2;FC=Missense;PC=N405S;DC=c.1214A>G;LO=EXON;EXON=15;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.259:1637,572:1075/1134:800/837,275/297:1:0.0 chr3 10046720 . C T 0.0 . DP=1226;TI=NM_033084.4;GI=FANCD2;FC=Synonymous;PC=Y425=;DC=c.1275C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.197:983,242:551/675:442/541,108/134:0:0.0 chr3 10046722 . TAGTA T 0.0 Benign DP=1173;TI=NM_033084.4;GI=FANCD2;FC=Noncoding;DC=c.1278+3_1278+6delAAGT;LO=SPLICING;EXON=15;oriDC=c.1278_1278+3delAGTA;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.193:947,226:533/640:430/517,103/123:0:NA chr3 10046728 . G T 0.0 . DP=1169;TI=NM_033084.4;GI=FANCD2;FC=Silent;DC=c.1278+5G>T;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.192:944,225:529/640:427/517,102/123:0:0.0 chr3 10048039 . G A 0.0 . DP=1600;TI=NM_033084.4;GI=FANCD2;FC=Synonymous;PC=T467=;DC=c.1401G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.395:968,632:769/831:465/503,304/328:0:0.0 chr3 10048054 . A G 0.0 . DP=1438;TI=NM_033084.4;GI=FANCD2;FC=Silent;DC=c.1413+3A>G;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.396:868,570:680/758:419/449,261/309:4:0.0 chr3 12381497 . TA T 0.0 R8.1;lowQ DP=655;TI=NM_015869.4;GI=PPARG;FC=Noncoding;DC=c.480+15delA;LO=INTRON;EXON=3;oriDC=c.480+7delA GT:VF:AD:SB:SA:SP:SO 0/1:0.012:641,8:299/356:293/348,3/5:2:NA chr3 14145949 rs2228001 G T 0.0 rs DP=1849;TI=NM_004628.4;GI=XPC;FC=Missense;PC=Q939K;DC=c.2815C>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1847:971/878:0/0,970/877:0:INF chr3 14148737 rs2279017 T G 0.0 rs DP=2119;TI=NM_004628.4;GI=XPC;FC=Silent;DC=c.2251-6A>C;LO=INTRON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.428:1213,906:1040/1079:587/626,453/453:3:0.0 chr3 14152389 rs2227998 C T 0.0 rs DP=2804;TI=NM_004628.4;GI=XPC;FC=Synonymous;PC=R687=;DC=c.2061G>A;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.416:1634,1167:1414/1390:829/805,583/584:2:0.0 chr3 14156487 . A T 0.0 . DP=862;TI=NM_004628.4;GI=XPC;FC=Synonymous;PC=A627=;DC=c.1881T>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,862:374/488:0/0,374/488:0:INF chr3 14168354 . C T 0.0 lowQ DP=387;TI=NM_004628.4;GI=XPC;FC=Missense;PC=V147M;DC=c.439G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:383,4:181/206:179/204,2/2:0:0.1 chr3 14178465 . CCCT C 0.0 lowQ;Benign DP=1588;TI=NM_004628.4;GI=XPC;FC=CODON_DELETION;PC=E34del;DC=c.101_103delAGG;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.026:1547,41:887/701:864/683,23/18:0:NA chr3 30644922 rs1155705 A G 0.0 rs DP=299;TI=NM_003242.5;GI=TGFBR2;FC=Silent;DC=c.263+7A>G;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.532:140,159:144/155:67/73,77/82:0:0.0 chr3 30650379 . G GA 0.0 R8.1;lowQ DP=408;TI=NM_003242.5;GI=TGFBR2;FC=Frameshift;PC=P129fs;DC=c.383dupA;LO=EXON;EXON=3;oriDC=c.374dupA;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.044:382,18:220/188:204/178,10/8:1:NA chr3 30650379 . GA G 0.0 R8.1;lowQ DP=408;TI=NM_003242.5;GI=TGFBR2;FC=Frameshift;PC=K128fs;DC=c.383delA;LO=EXON;EXON=3;oriDC=c.374delA GT:VF:AD:SB:SA:SP:SO 0/1:0.020:382,8:220/188:204/178,6/2:6:NA chr3 30671634 rs11466512 T A 0.0 rs DP=969;TI=NM_003242.5;GI=TGFBR2;FC=Silent;DC=c.455-4T>A;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.514:468,498:559/410:267/201,290/208:1:0.0 chr3 30688454 . C CA 0.0 . DP=371;TI=NM_003242.5;GI=TGFBR2;FC=Frameshift;PC=N490fs;DC=c.1469dupA;LO=EXON;EXON=6;oriDC=c.1468dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.380:230,141:185/186:117/113,68/73:2:NA chr3 30688474 . G A 0.0 lowQ DP=359;TI=NM_003242.5;GI=TGFBR2;FC=Missense;PC=G496E;DC=c.1487G>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:355,4:171/188:169/186,2/2:0:0.0 chr3 41225179 . T C 0.0 lowQ DP=1469;TI=NM_001904.3;GI=CTNNB1;FC=Missense;PC=L156P;DC=c.467T>C;LO=EXON;EXON=4;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1449,15:711/755:704/745,7/8:1:0.0 chr3 41227337 . G A 0.0 lowQ DP=1009;TI=NM_001904.3;GI=CTNNB1;FC=Missense;PC=A356T;DC=c.1066G>A;LO=EXON;EXON=7;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.014:995,14:501/508:494/501,7/7:0:0.0 chr3 47057330 . A T 0.0 lowQ DP=4785;TI=NM_014159.6;GI=SETD2;FC=Missense;PC=Y2152N;DC=c.6454T>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:4731,51:2215/2570:2188/2543,26/25:3:0.1 chr3 47057337 . T TC 0.0 RV DP=4925;TI=NM_014159.6;GI=SETD2;FC=Frameshift;PC=L2150fs;DC=c.6446_6447insG;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.051:4674,251:2270/2655:2142/2532,128/123:10:NA chr3 47083895 rs4082155 G A 0.0 Benign DP=1898;TI=NM_014159.6;GI=SETD2;FC=Missense;PC=P1962L;DC=c.5885C>T;LO=EXON;EXON=12;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.998:1,1894:938/960:0/1,937/957:0:INF chr3 47083912 . A G 0.0 lowQ DP=1939;TI=NM_014159.6;GI=SETD2;FC=Synonymous;PC=A1956=;DC=c.5868T>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:1890,28:971/950:953/937,17/11:6:0.2 chr3 47120574 . A G 0.0 lowQ DP=1471;TI=NM_014159.6;GI=SETD2;FC=Synonymous;PC=D1354=;DC=c.4062T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:1444,27:761/710:745/699,16/11:4:0.1 chr3 47121171 rs6767907 A G 0.0 . DP=1407;TI=NM_014159.6;GI=SETD2;FC=Synonymous;PC=N1155=;DC=c.3465T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,1404:722/685:1/1,720/684:0:0.0 chr3 47123839 . T TC 0.0 lowQ DP=1768;TI=NM_014159.6;GI=SETD2;FC=Frameshift;PC=H266fs;DC=c.796_797insG;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:1740,28:931/837:912/828,19/9:10:NA chr3 49360391 . G GA 0.0 R8.1;lowQ DP=559;TI=NM_001664.3;GI=RHOA;FC=Noncoding;DC=c.409-10dupT;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:545,13:284/275:276/269,7/6:1:NA chr3 51943464 . A C 0.0 . DP=2373;TI=NM_005485.5;GI=PARP3;FC=Missense;PC=K37Q;DC=c.109A>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.466:1267,1106:1204/1169:641/626,563/543:1:0.0 chr3 52576627 . G A 0.0 . DP=1194;TI=NM_018313.4;GI=PBRM1;FC=Missense;PC=T1177I;DC=c.3530C>T;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.428:683,511:558/636:321/362,237/274:1:0.0 chr3 52609317 . T A 0.0 lowQ DP=1040;TI=NM_018313.4;GI=PBRM1;FC=Missense;PC=N855Y;DC=c.2563A>T;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1029,11:580/460:574/455,6/5:0:0.0 chr3 52642049 rs549395630 C CA 0.0 R8.1 DP=703;TI=NM_018313.4;GI=PBRM1;FC=Noncoding;DC=c.996-5dupT;LO=INTRON;EXON=11;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.091:521,64:373/329:278/243,34/30:0:NA chr3 52642049 . C CAA 0.0 R8.1;lowQ DP=703;TI=NM_018313.4;GI=PBRM1;FC=Noncoding;DC=c.996-6_996-5dupTT;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:521,8:373/329:278/243,5/3:2:NA chr3 52642049 . CA C 0.0 R8.1;Benign DP=703;TI=NM_018313.4;GI=PBRM1;FC=Noncoding;DC=c.996-5delT;LO=INTRON;EXON=11;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.122:521,86:373/329:278/243,45/41:1:NA chr3 52642049 . CAA C 0.0 R8.1;lowQ DP=703;TI=NM_018313.4;GI=PBRM1;FC=Noncoding;DC=c.996-6_996-5delTT;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:521,19:373/329:278/243,8/11:5:NA chr3 53495165 . GGAT G 0.0 lowQ;Benign DP=1536;TI=NM_000720.3;GI=CACNA1D;FC=CODON_DELETION;PC=M7del;DC=c.20_22delTGA;LO=EXON;EXON=1;oriDC=c.-1_2delGAT;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.019:1498,29:757/779:740/758,14/15:0:NA chr3 53740310 . G A 0.0 lowQ DP=315;TI=NM_000720.3;GI=CACNA1D;FC=Missense;PC=A948T;DC=c.2842G>A;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:311,4:155/160:153/158,2/2:0:0.0 chr3 53805023 . A G 0.0 lowQ DP=1416;TI=NM_000720.3;GI=CACNA1D;FC=Missense;PC=I1896V;DC=c.5686A>G;LO=EXON;EXON=46 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:1389,27:834/582:817/572,17/10:2:0.1 chr3 59752329 . G GA 0.0 R8.1;lowQ;NC DP=683;TI=NM_002012.3;GI=FHIT;FC=Noncoding;DC=c.349-9dupT;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:662,16:351/332:339/323,9/7:2:NA chr3 59922348 . C G 0.0 lowQ DP=245;TI=NM_002012.3;GI=FHIT;FC=Missense;PC=E116Q;DC=c.346G>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:241,4:135/110:133/108,2/2:1:0.1 chr3 60536862 . C CG 0.0 lowQ DP=238;TI=NM_002012.3;GI=FHIT;FC=Frameshift;PC=G34fs;DC=c.100_101insC;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:235,3:121/117:119/116,2/1:2:NA chr3 60536863 . C G 0.0 lowQ DP=238;TI=NM_002012.3;GI=FHIT;FC=Missense;PC=G34R;DC=c.100G>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:232,4:119/119:116/116,2/2:0:0.0 chr3 69941303 . T C 0.0 lowQ DP=977;TI=NM_000248.3;GI=MITF;FC=Missense;PC=M138T;DC=c.413T>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:967,10:464/513:460/507,4/6:2:0.1 chr3 70959245 . A AC 0.0 lowQ;NC DP=348;TI=NM_032682.5;GI=FOXP1;FC=UTR;DC=c.*1_*2insG;LO=3UTR;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:344,4:178/170:176/168,2/2:0:NA chr3 71112569 . A G 0.0 lowQ DP=250;TI=NM_032682.5;GI=FOXP1;FC=Synonymous;PC=S83=;DC=c.249T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:246,4:129/121:127/119,2/2:0:0.0 chr3 89341795 . C T 0.0 lowQ DP=391;TI=NM_005233.5;GI=EPHA3;FC=Synonymous;PC=N337=;DC=c.1011C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:387,4:208/183:206/181,2/2:0:0.1 chr3 89472452 rs112297761 T TC 0.0 NC;rs DP=245;TI=NM_005233.5;GI=EPHA3;FC=Noncoding;DC=c.2691-12_2691-11insC;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.527:116,129:127/118:59/57,68/61:1:NA chr3 89472543 rs35124509 T C 0.0 rs DP=301;TI=NM_005233.5;GI=EPHA3;FC=Missense;PC=W924R;DC=c.2770T>C;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.498:151,150:150/151:77/74,73/77:2:0.0 chr3 89472575 rs1054750 T C 0.0 rs DP=263;TI=NM_005233.5;GI=EPHA3;FC=Synonymous;PC=G934=;DC=c.2802T>C;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.460:142,121:127/136:70/72,57/64:1:0.0 chr3 100732507 . G C 0.0 lowQ DP=192;TI=NM_006070.5;GI=TFG;FC=Splicing;DC=c.416-1G>C;LO=SPLICING;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:188,4:101/91:99/89,2/2:0:0.0 chr3 100748174 rs11353 T C 0.0 rs DP=695;TI=NM_006070.5;GI=TFG;FC=Synonymous;PC=P282=;DC=c.846T>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,694:375/320:0/1,375/319:0:INF chr3 105658982 . A T 0.0 lowQ DP=372;TI=NM_170662.4;GI=CBLB;FC=Synonymous;PC=R979=;DC=c.2937T>A;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:367,5:210/162:207/160,3/2:1:0.1 chr3 105704000 rs2305037 C T 0.0 rs DP=312;TI=NM_170662.4;GI=CBLB;FC=Synonymous;PC=T527=;DC=c.1581G>A;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,312:182/130:0/0,182/130:0:INF chr3 105720237 . T C 0.0 lowQ DP=365;TI=NM_170662.4;GI=CBLB;FC=Missense;PC=Q406R;DC=c.1217A>G;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:360,4:158/207:155/205,2/2:1:0.1 chr3 105853518 . C T 0.0 lowQ DP=342;TI=NM_170662.4;GI=CBLB;FC=Synonymous;PC=E105=;DC=c.315G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:338,4:151/191:149/189,2/2:1:0.1 chr3 119912817 . G GA 0.0 lowQ;NC DP=110;TI=NM_002093.3;GI=GSK3B;FC=Noncoding;DC=c.609-8dupT;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:106,3:58/52:55/51,2/1:2:NA chr3 120093338 . A G 0.0 lowQ DP=318;TI=NM_002093.3;GI=GSK3B;FC=Silent;DC=c.88+9T>C;LO=INTRON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:314,4:174/144:172/142,2/2:1:0.1 chr3 120689868 . C A 0.0 lowQ DP=293;TI=NM_173825.3;GI=RABL3;FC=Synonymous;PC=R222=;DC=c.666G>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:290,3:138/155:137/153,1/2:2:0.3 chr3 120730785 . C T 0.0 lowQ DP=238;TI=NM_173825.3;GI=RABL3;FC=Missense;PC=V17I;DC=c.49G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:235,3:115/123:114/121,1/2:2:0.3 chr3 121436127 rs1381057 T C 0.0 Benign DP=248;TI=NM_199420.3;GI=POLQ;FC=Missense;PC=Q2513R;DC=c.7538A>G;LO=EXON;EXON=28;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.984:4,244:140/108:2/2,138/106:1:0.1 chr3 121440007 . A C 0.0 lowQ DP=398;TI=NM_199420.3;GI=POLQ;FC=Synonymous;PC=P2458=;DC=c.7374T>G;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:392,4:210/188:207/185,2/2:0:0.0 chr3 121449415 . C A 0.0 lowQ DP=183;TI=NM_199420.3;GI=POLQ;FC=Synonymous;PC=G2388=;DC=c.7164G>T;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:180,3:96/87:94/86,2/1:2:0.3 chr3 121472075 . G A 0.0 lowQ DP=373;TI=NM_199420.3;GI=POLQ;FC=Synonymous;PC=V2211=;DC=c.6633C>T;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:369,4:187/186:185/184,2/2:0:0.0 chr3 121483586 . T TA 0.0 R8.1 DP=97;TI=NM_199420.3;GI=POLQ;FC=Noncoding;DC=c.5774-5dupT;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.103:63,10:53/44:37/26,4/6:6:NA chr3 121483586 . TA T 0.0 R8.1 DP=97;TI=NM_199420.3;GI=POLQ;FC=Noncoding;DC=c.5774-5delT;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.186:63,18:53/44:37/26,9/9:3:NA chr3 121488012 . G T 0.0 lowQ DP=261;TI=NM_199420.3;GI=POLQ;FC=Missense;PC=P1640Q;DC=c.4919C>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:258,3:136/125:134/124,2/1:2:0.3 chr3 121488031 . C T 0.0 lowQ DP=277;TI=NM_199420.3;GI=POLQ;FC=Missense;PC=A1634T;DC=c.4900G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:273,4:140/137:138/135,2/2:0:0.0 chr3 121488036 . G A 0.0 lowQ DP=283;TI=NM_199420.3;GI=POLQ;FC=Missense;PC=S1632L;DC=c.4895C>T;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:280,3:145/138:143/137,2/1:2:0.3 chr3 121488516 . T C 0.0 lowQ DP=184;TI=NM_199420.3;GI=POLQ;FC=Missense;PC=E1472G;DC=c.4415A>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:181,3:93/91:92/89,1/2:3:0.3 chr3 121488779 . C T 0.0 lowQ DP=252;TI=NM_199420.3;GI=POLQ;FC=Synonymous;PC=A1384=;DC=c.4152G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:248,4:135/117:133/115,2/2:1:0.1 chr3 121489329 rs3218651 T C 0.0 Benign DP=225;TI=NM_199420.3;GI=POLQ;FC=Missense;PC=H1201R;DC=c.3602A>G;LO=EXON;EXON=16;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.493:114,111:120/105:56/58,64/47:7:0.1 chr3 121489410 . T C 0.0 lowQ DP=326;TI=NM_199420.3;GI=POLQ;FC=Missense;PC=Q1174R;DC=c.3521A>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:322,4:168/158:166/156,2/2:0:0.0 chr3 121489986 rs3218649 G C 0.0 Benign DP=197;TI=NM_199420.3;GI=POLQ;FC=Missense;PC=T982R;DC=c.2945C>G;LO=EXON;EXON=16;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.462:106,91:102/95:53/53,49/42:2:0.1 chr3 121509553 rs41544013 G C 0.0 . DP=239;TI=NM_199420.3;GI=POLQ;FC=Silent;DC=c.1959+8C>G;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.397:144,95:136/103:82/62,54/41:0:0.0 chr3 121519902 rs702018 G A 0.0 . DP=786;TI=NM_199420.3;GI=POLQ;FC=Synonymous;PC=G479=;DC=c.1437C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:2,784:406/380:1/1,405/379:0:0.0 chr3 121520016 rs35766343 C T 0.0 . DP=653;TI=NM_199420.3;GI=POLQ;FC=Synonymous;PC=A441=;DC=c.1323G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.487:335,318:288/365:146/189,142/176:1:0.0 chr3 121537116 . G A 0.0 lowQ DP=209;TI=NM_199420.3;GI=POLQ;FC=Missense;PC=R242W;DC=c.724C>T;LO=EXON;EXON=5;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.014:206,3:109/100:107/99,2/1:2:0.3 chr3 121539521 rs36065146 G A 0.0 . DP=408;TI=NM_199420.3;GI=POLQ;FC=Synonymous;PC=F181=;DC=c.543C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.473:214,193:203/205:109/105,94/99:2:0.0 chr3 121544866 . C T 0.0 lowQ DP=270;TI=NM_199420.3;GI=POLQ;FC=Synonymous;PC=K68=;DC=c.204G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:266,4:127/143:125/141,2/2:0:0.1 chr3 121544873 rs702017 C A 0.0 Benign DP=244;TI=NM_199420.3;GI=POLQ;FC=Missense;PC=R66I;DC=c.197G>T;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,244:111/133:0/0,111/133:0:INF chr3 121544877 . C T 0.0 lowQ DP=227;TI=NM_199420.3;GI=POLQ;FC=Missense;PC=E65K;DC=c.193G>A;LO=EXON;EXON=2;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.018:223,4:98/129:96/127,2/2:1:0.1 chr3 128487017 rs1573858 G C 0.0 rs DP=1124;TI=NM_032638.4;GI=GATA2;FC=Synonymous;PC=P5=;DC=c.15C>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.433:635,487:525/599:297/338,227/260:0:0.0 chr3 129171507 rs4303883 G A 0.0 rs DP=536;TI=NM_003418.4;GI=CNBP;FC=Synonymous;PC=D52=;DC=c.156C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.558:237,299:300/236:131/106,169/130:1:0.0 chr3 129433134 . A C 0.0 lowQ DP=274;TI=NM_003925.2;GI=MBD4;FC=Missense;PC=Y509D;DC=c.1525T>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:270,4:142/132:140/130,2/2:0:0.0 chr3 129433246 rs140696 G A 0.0 rs DP=212;TI=NM_003925.2;GI=MBD4;FC=Synonymous;PC=G471=;DC=c.1413C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.538:98,114:95/117:45/53,50/64:1:0.0 chr3 129433970 . G GA 0.0 lowQ DP=577;TI=NM_003925.2;GI=MBD4;FC=Frameshift;PC=R431fs;DC=c.1290_1291insT;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:562,10:298/278:288/274,7/3:6:NA chr3 129433971 . T A 0.0 lowQ DP=585;TI=NM_003925.2;GI=MBD4;FC=Synonymous;PC=P430=;DC=c.1290A>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:563,9:298/286:285/278,6/3:5:0.3 chr3 129433971 . T G 0.0 lowQ DP=585;TI=NM_003925.2;GI=MBD4;FC=Synonymous;PC=P430=;DC=c.1290A>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:563,7:298/286:285/278,4/3:1:0.1 chr3 129433975 . G T 0.0 lowQ DP=619;TI=NM_003925.2;GI=MBD4;FC=Missense;PC=P429H;DC=c.1286C>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:608,7:326/293:319/289,5/2:5:0.4 chr3 129436620 rs2307289 A G 0.0 rs DP=239;TI=NM_003925.2;GI=MBD4;FC=Missense;PC=S342P;DC=c.1024T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.556:106,133:111/128:52/54,59/74:3:0.1 chr3 129436704 rs558765093 C CT 0.0 R8.1;lowQ;rs DP=186;TI=NM_003925.2;GI=MBD4;FC=Frameshift;PC=E314fs;DC=c.939dupA;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:169,4:87/99:81/88,2/2:0:NA chr3 129436704 . CT C 0.0 R8.1 DP=186;TI=NM_003925.2;GI=MBD4;FC=Frameshift;PC=E314fs;DC=c.939delA;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.070:169,13:87/99:81/88,4/9:6:NA chr3 129436900 . T C 0.0 lowQ DP=439;TI=NM_003925.2;GI=MBD4;FC=Synonymous;PC=K248=;DC=c.744A>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:434,5:229/210:227/207,2/3:2:0.2 chr3 129436940 . A G 0.0 lowQ DP=488;TI=NM_003925.2;GI=MBD4;FC=Missense;PC=V235A;DC=c.704T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:483,5:257/231:254/229,3/2:1:0.1 chr3 135179858 . A G 0.0 lowQ DP=309;TI=NM_004441.4;GI=EPHB1;FC=Splicing;DC=c.1760-2A>G;LO=SPLICING;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:305,4:177/132:175/130,2/2:1:0.1 chr3 135179900 rs1042787 C T 0.0 rs DP=376;TI=NM_004441.4;GI=EPHB1;FC=Synonymous;PC=Y600=;DC=c.1800C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.415:218,156:188/188:107/111,80/76:2:0.0 chr3 135201464 rs2270881 C T 0.0 rs DP=1396;TI=NM_004441.4;GI=EPHB1;FC=Silent;DC=c.2131-10C>T;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.440:780,614:820/576:457/323,362/252:1:0.0 chr3 135248421 rs56317545 C A 0.0 rs DP=2157;TI=NM_004441.4;GI=EPHB1;FC=Synonymous;PC=R868=;DC=c.2602C>A;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.408:1272,881:1091/1066:652/620,437/444:3:0.0 chr3 138694867 . C CG 0.0 lowQ DP=1276;TI=NM_006219.2;GI=PIK3CB;FC=Frameshift;PC=R604fs;DC=c.1810dupC;LO=EXON;EXON=12;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1256,15:634/642:624/632,7/8:1:NA chr3 138714726 rs497900 C T 0.0 . DP=946;TI=NM_006219.2;GI=PIK3CB;FC=Silent;DC=c.1051-7G>A;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.521:453,493:459/487:223/230,236/257:2:0.0 chr3 138742558 . C G 0.0 lowQ DP=398;TI=NM_006219.2;GI=PIK3CB;FC=Missense;PC=Q207H;DC=c.621G>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:392,6:225/173:222/170,3/3:1:0.1 chr3 142449489 rs1802904 C T 0.0 . DP=1479;TI=NM_001184.3;GI=ATR;FC=Synonymous;PC=Q2625=;DC=c.7875G>A;LO=EXON;EXON=47 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1479:764/715:0/0,764/715:0:INF chr3 142522850 . G GA 0.0 R8.1 DP=533;TI=NM_001184.3;GI=ATR;FC=Noncoding;DC=c.4153-10dupT;LO=INTRON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.113:432,60:348/185:275/157,44/16:8:NA chr3 142522850 . GA G 0.0 R8.1 DP=533;TI=NM_001184.3;GI=ATR;FC=Noncoding;DC=c.4153-10delT;LO=INTRON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.054:432,29:348/185:275/157,21/8:5:NA chr3 142522850 . GAA G 0.0 R8.1;lowQ DP=533;TI=NM_001184.3;GI=ATR;FC=Noncoding;DC=c.4153-11_4153-10delTT;LO=INTRON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:432,6:348/185:275/157,4/2:1:NA chr3 142555897 . A AT 0.0 R8.1 DP=973;TI=NM_001184.3;GI=ATR;FC=Frameshift;PC=I774fs;DC=c.2320dupA;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.052:886,51:530/443:483/403,26/25:2:NA chr3 142555897 . AT A 0.0 R8.1;lowQ DP=973;TI=NM_001184.3;GI=ATR;FC=Frameshift;PC=I774fs;DC=c.2320delA;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.034:886,33:530/443:483/403,19/14:1:NA chr3 142561296 . A T 0.0 lowQ DP=1816;TI=NM_001184.3;GI=ATR;FC=Synonymous;PC=R432=;DC=c.1296T>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:1759,55:889/927:858/901,30/25:4:0.1 chr3 149527888 rs28763914 T A 0.0 rs DP=535;TI=NM_015472.5;GI=WWTR1;FC=Missense;PC=T285S;DC=c.853A>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.464:287,248:272/263:147/140,125/123:1:0.0 chr3 149542406 . TCTG T 0.0 lowQ DP=2022;TI=NM_015472.5;GI=WWTR1;FC=CODON_DELETION;PC=Q233del;DC=c.697_699delCAG;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:1985,35:1061/961:1042/943,18/17:0:NA chr3 155893702 . A C 0.0 lowQ DP=256;TI=NM_003875.2;GI=GMPS;FC=Silent;DC=c.209+3A>C;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:253,3:109/147:107/146,2/1:4:0.4 chr3 155931813 . G T 0.0 lowQ DP=394;TI=NM_003875.2;GI=GMPS;FC=Nonsense;PC=E537*;DC=c.1609G>T;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:390,4:210/184:208/182,2/2:0:0.1 chr3 155937640 . G A 0.0 lowQ DP=220;TI=NM_003875.2;GI=GMPS;FC=Missense;PC=R677Q;DC=c.2030G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:215,5:114/106:112/103,2/3:2:0.2 chr3 156694008 . G GT 0.0 R8.1;NC DP=86;TI=NM_015508.4;GI=TIPARP;FC=Noncoding;DC=c.918-3dupT;LO=INTRON;EXON=3;oriDC=c.918-11dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.058:81,5:50/36:47/34,3/2:0:NA chr3 156704669 . T A 0.0 lowQ DP=211;TI=NM_015508.4;GI=TIPARP;FC=Silent;DC=c.1527-15T>A;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:208,3:114/97:113/95,1/2:3:0.4 chr3 158592466 . G A 0.0 lowQ DP=267;TI=NM_022443.4;GI=MLF1;FC=Missense;PC=R27Q;DC=c.80G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:263,4:136/131:134/129,2/2:0:0.0 chr3 158602808 rs4875 T C 0.0 rs DP=246;TI=NM_022443.4;GI=MLF1;FC=Synonymous;PC=S190=;DC=c.570T>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,246:127/119:0/0,127/119:0:INF chr3 158602914 rs15967 C A 0.0 rs DP=306;TI=NM_022443.4;GI=MLF1;FC=Missense;PC=P226T;DC=c.676C>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,306:143/163:0/0,143/163:0:INF chr3 169115468 . CT C 0.0 lowQ DP=349;TI=NM_005241.3;GI=MECOM;FC=Frameshift;PC=G614fs;DC=c.1839delA;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:345,4:190/159:188/157,2/2:1:NA chr3 169116364 . G A 0.0 lowQ DP=185;TI=NM_005241.3;GI=MECOM;FC=Missense;PC=P315L;DC=c.944C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:182,3:97/88:95/87,2/1:2:0.3 chr3 169122709 . C A 0.0 lowQ DP=266;TI=NM_005241.3;GI=MECOM;FC=Synonymous;PC=L95=;DC=c.285G>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:263,3:125/141:124/139,1/2:2:0.3 chr3 169122715 . G A 0.0 lowQ DP=253;TI=NM_005241.3;GI=MECOM;FC=Synonymous;PC=H93=;DC=c.279C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:250,3:116/137:114/136,2/1:3:0.4 chr3 169131429 . C T 0.0 lowQ DP=224;TI=NM_005241.3;GI=MECOM;FC=Missense;PC=E17K;DC=c.49G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:220,4:117/107:115/105,2/2:0:0.0 chr3 170273311 . C G 0.0 lowQ DP=304;TI=NM_002740.5;GI=PRKCI;FC=Nonsense;PC=S206*;DC=c.617C>G;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:300,4:156/148:154/146,2/2:0:0.0 chr3 170275267 . C A 0.0 sb;lowQ DP=155;TI=NM_002740.5;GI=PRKCI;FC=Missense;PC=Q229K;DC=c.685C>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:152,3:67/88:64/88,3/0:13:INF chr3 170280339 . T TA 0.0 lowQ DP=228;TI=NM_002740.5;GI=PRKCI;FC=Frameshift;PC=T276fs;DC=c.826dupA;LO=EXON;EXON=9;oriDC=c.819dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.013:223,3:115/113:113/110,1/2:3:NA chr3 170281172 . G T 0.0 lowQ DP=240;TI=NM_002740.5;GI=PRKCI;FC=Missense;PC=D297Y;DC=c.889G>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:236,4:122/118:120/116,2/2:0:0.0 chr3 183494118 rs1520101 A G 0.0 rs DP=367;TI=NM_130446.3;GI=KLHL6;FC=Synonymous;PC=N437=;DC=c.1311T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.798:74,293:215/152:42/32,173/120:1:0.0 chr3 183508284 rs16857707 G A 0.0 rs DP=961;TI=NM_130446.3;GI=KLHL6;FC=Synonymous;PC=Y228=;DC=c.684C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.769:222,739:409/552:87/135,322/417:6:0.1 chr3 183508398 rs61447052 C T 0.0 rs DP=750;TI=NM_130446.3;GI=KLHL6;FC=Synonymous;PC=K190=;DC=c.570G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.756:183,567:350/400:86/97,264/303:0:0.0 chr3 183508425 rs16857710 A G 0.0 rs DP=746;TI=NM_130446.3;GI=KLHL6;FC=Synonymous;PC=A181=;DC=c.543T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.748:188,558:354/392:95/93,259/299:5:0.1 chr3 185443448 . T C 0.0 lowQ DP=259;TI=NM_001242314.1;GI=MAP3K13;FC=Synonymous;PC=G221=;DC=c.663T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:254,4:145/114:143/111,2/2:1:0.1 chr3 185451298 . C G 0.0 lowQ DP=398;TI=NM_001242314.1;GI=MAP3K13;FC=Missense;PC=P394R;DC=c.1181C>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:389,9:210/188:204/185,6/3:4:0.3 chr3 185465753 . G T 0.0 lowQ DP=292;TI=NM_001242314.1;GI=MAP3K13;FC=Synonymous;PC=A465=;DC=c.1395G>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:289,3:158/134:156/133,2/1:2:0.2 chr3 186052080 . T C 0.0 lowQ DP=237;TI=NM_004454.2;GI=ETV5;FC=Missense;PC=K421E;DC=c.1261A>G;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:234,3:125/112:124/110,1/2:3:0.4 chr3 186065882 . G T 0.0 lowQ DP=889;TI=NM_004454.2;GI=ETV5;FC=Missense;PC=P281T;DC=c.841C>A;LO=EXON;EXON=8;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.012:878,11:483/406:476/402,7/4:3:0.2 chr3 186065886 . T G 0.0 lowQ DP=879;TI=NM_004454.2;GI=ETV5;FC=Synonymous;PC=P279=;DC=c.837A>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:864,14:485/394:476/388,8/6:1:0.0 chr3 186065895 . C A 0.0 lowQ DP=884;TI=NM_004454.2;GI=ETV5;FC=Synonymous;PC=P276=;DC=c.828G>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:871,11:471/413:463/408,7/4:3:0.2 chr3 186065899 . A C 0.0 lowQ DP=884;TI=NM_004454.2;GI=ETV5;FC=Missense;PC=V275G;DC=c.824T>G;LO=EXON;EXON=8;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.014:872,12:467/417:459/413,8/4:5:0.3 chr3 186079931 . T G 0.0 sb.s;lowQ DP=825;TI=NM_004454.2;GI=ETV5;FC=Missense;PC=H179P;DC=c.536A>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.033:797,27:719/106:718/79,0/27:200:INF chr3 186105313 . G T 0.0 lowQ DP=291;TI=NM_004454.2;GI=ETV5;FC=Missense;PC=S75Y;DC=c.224C>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:288,3:153/138:152/136,1/2:3:0.3 chr3 186671658 . G A 0.0 lowQ DP=287;TI=NM_000412.4;GI=HRG;FC=Missense;PC=V143I;DC=c.427G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:284,3:148/139:146/138,2/1:2:0.3 chr3 186671770 rs10770 T C 0.0 rs DP=276;TI=NM_000412.4;GI=HRG;FC=Missense;PC=I180T;DC=c.539T>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.178:227,49:126/150:105/122,21/28:2:0.1 chr3 186672838 rs9898 C T 0.0 rs DP=658;TI=NM_000412.4;GI=HRG;FC=Missense;PC=P204S;DC=c.610C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,658:338/320:0/0,338/320:0:INF chr3 186677324 rs2228243 A G 0.0 rs DP=908;TI=NM_000412.4;GI=HRG;FC=Missense;PC=H340R;DC=c.1019A>G;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.813:170,738:467/441:85/85,382/356:2:0.0 chr3 186677647 rs1042445 C T 0.0 rs DP=1018;TI=NM_000412.4;GI=HRG;FC=Missense;PC=R448C;DC=c.1342C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.179:836,182:444/574:368/468,76/106:2:0.0 chr3 186677783 rs1042464 A T 0.0 rs DP=494;TI=NM_000412.4;GI=HRG;FC=Missense;PC=N493I;DC=c.1478A>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,494:225/269:0/0,225/269:0:INF chr3 186789138 . G C 0.0 lowQ DP=265;TI=NM_001967.3;GI=EIF4A2;FC=Missense;PC=G365R;DC=c.1093G>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:262,3:142/123:140/122,2/1:2:0.2 chr3 186789214 . CT C 0.0 lowQ DP=341;TI=NM_001967.3;GI=EIF4A2;FC=Frameshift;PC=F391fs;DC=c.1172delT;LO=EXON;EXON=11;oriDC=c.1170delT GT:VF:AD:SB:SA:SP:SO 0/1:0.012:337,4:178/163:176/161,2/2:0:NA chr3 186789279 . T C 0.0 lowQ DP=243;TI=NM_001967.3;GI=EIF4A2;FC=Silent;DC=c.*10T>C;LO=3UTR;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:240,3:117/126:116/124,1/2:2:0.3 chr3 187729244 rs1056932 G A 0.0 rs DP=1156;TI=NM_001706.4;GI=BCL6;FC=Synonymous;PC=N387=;DC=c.1161C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1156:566/590:0/0,566/590:0:INF chr3 187731746 . G T 0.0 lowQ DP=400;TI=NM_001706.4;GI=BCL6;FC=Missense;PC=H116N;DC=c.346C>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:396,4:221/179:219/177,2/2:1:0.1 chr3 188609673 rs1059380 C T 0.0 rs DP=1199;TI=NM_005578.4;GI=LPP;FC=Synonymous;PC=D314=;DC=c.942C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.192:969,230:534/665:430/539,104/126:1:0.0 chr3 188760100 . CT C 0.0 lowQ;NC DP=213;TI=NM_005578.4;GI=LPP;FC=Noncoding;DC=c.1241-5delT;LO=INTRON;EXON=8;oriDC=c.1241-12delT GT:VF:AD:SB:SA:SP:SO 0/1:0.019:208,4:120/93:117/91,2/2:1:NA chr3 192170663 . G GA 0.0 R8.1;lowQ;NC DP=57;TI=NM_021032.4;GI=FGF12;FC=Noncoding;DC=c.415-8dupT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.053:25,3:31/26:15/10,1/2:4:NA chr3 192170663 . GA G 0.0 R8.1;NC DP=57;TI=NM_021032.4;GI=FGF12;FC=Noncoding;DC=c.415-8delT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.351:25,20:31/26:15/10,11/9:1:NA chr3 192170663 . GAA G 0.0 R8.1;NC DP=57;TI=NM_021032.4;GI=FGF12;FC=Noncoding;DC=c.415-9_415-8delTT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.158:25,9:31/26:15/10,4/5:4:NA chr3 192360434 . C T 0.0 lowQ DP=243;TI=NM_021032.4;GI=FGF12;FC=Missense;PC=D102N;DC=c.304G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:240,3:127/116:126/114,1/2:3:0.3 chr3 192360443 . C T 0.0 lowQ DP=261;TI=NM_021032.4;GI=FGF12;FC=Missense;PC=E99K;DC=c.295G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:258,3:133/128:131/127,2/1:2:0.3 chr3 196051969 . G A 0.0 lowQ DP=352;TI=NM_001128148.2;GI=TFRC;FC=Synonymous;PC=D752=;DC=c.2256C>T;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:348,4:187/165:185/163,2/2:0:0.1 chr3 196052161 . G T 0.0 lowQ DP=350;TI=NM_001128148.2;GI=TFRC;FC=Synonymous;PC=P688=;DC=c.2064C>A;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:346,4:159/191:157/189,2/2:1:0.1 chr3 196064396 . C T 0.0 lowQ DP=239;TI=NM_001128148.2;GI=TFRC;FC=Missense;PC=A411T;DC=c.1231G>A;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:235,4:118/121:116/119,2/2:0:0.0 chr3 196071387 rs480760 T C 0.0 rs DP=193;TI=NM_001128148.2;GI=TFRC;FC=Silent;DC=c.687+9A>G;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,193:105/88:0/0,105/88:0:INF chr4 1806167 rs7688609 G A 0.0 . DP=7939;TI=NM_000142.4;GI=FGFR3;FC=Synonymous;PC=T651=;DC=c.1953G>A;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:0.993:57,7880:3921/4017:27/30,3894/3986:1:0.0 chr4 1918125 . CT C 0.0 R8.1;lowQ;NC DP=1595;TI=NM_133335.3;GI=NSD2;FC=Noncoding;DC=c.928-6delT;LO=INTRON;EXON=5;oriDC=c.928-15delT GT:VF:AD:SB:SA:SP:SO 0/1:0.032:1486,51:914/680:852/634,28/23:1:NA chr4 1978831 . G GC 0.0 lowQ DP=8201;TI=NM_133335.3;GI=NSD2;FC=Frameshift;PC=E1344fs;DC=c.4028dupC;LO=EXON;EXON=22;oriDC=c.4021dupC GT:VF:AD:SB:SA:SP:SO 0/1:0.020:7986,165:4116/4084:4007/3979,85/80:1:NA chr4 20491810 . C T 0.0 lowQ DP=336;TI=NM_004787.3;GI=SLIT2;FC=Synonymous;PC=A275=;DC=c.825C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:332,4:179/157:177/155,2/2:0:0.1 chr4 20491885 . G C 0.0 lowQ DP=314;TI=NM_004787.3;GI=SLIT2;FC=Missense;PC=E300D;DC=c.900G>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:310,4:152/162:150/160,2/2:0:0.0 chr4 20519370 rs519813 T C 0.0 rs DP=368;TI=NM_004787.3;GI=SLIT2;FC=Silent;DC=c.1059-12T>C;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,368:196/172:0/0,196/172:0:INF chr4 20539425 . CT C 0.0 lowQ;NC DP=352;TI=NM_004787.3;GI=SLIT2;FC=Noncoding;DC=c.1833-9delT;LO=INTRON;EXON=19;oriDC=c.1833-15delT GT:VF:AD:SB:SA:SP:SO 0/1:0.011:348,4:182/170:180/168,2/2:0:NA chr4 20539529 . C A 0.0 lowQ DP=366;TI=NM_004787.3;GI=SLIT2;FC=Missense;PC=Q641K;DC=c.1921C>A;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:362,4:166/200:164/198,2/2:1:0.1 chr4 20541533 . C T 0.0 lowQ DP=457;TI=NM_004787.3;GI=SLIT2;FC=Missense;PC=T686M;DC=c.2057C>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:450,6:225/232:221/229,3/3:0:0.0 chr4 20542561 rs7690492 C T 0.0 rs DP=303;TI=NM_004787.3;GI=SLIT2;FC=Synonymous;PC=V737=;DC=c.2211C>T;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.459:164,139:148/155:78/86,70/69:2:0.0 chr4 20542580 . G A 0.0 lowQ DP=324;TI=NM_004787.3;GI=SLIT2;FC=Missense;PC=G744S;DC=c.2230G>A;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:320,4:160/164:158/162,2/2:0:0.0 chr4 20568913 . T C 0.0 lowQ DP=271;TI=NM_004787.3;GI=SLIT2;FC=Synonymous;PC=V999=;DC=c.2997T>C;LO=EXON;EXON=29 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:267,3:134/137:132/135,2/1:3:0.3 chr4 20595824 . G A 0.0 lowQ DP=367;TI=NM_004787.3;GI=SLIT2;FC=Missense;PC=E1104K;DC=c.3310G>A;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:363,4:173/194:171/192,2/2:0:0.1 chr4 25664264 . C A 0.0 lowQ DP=953;TI=NM_006424.2;GI=SLC34A2;FC=Missense;PC=L105I;DC=c.313C>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:935,12:342/611:333/602,6/6:5:0.3 chr4 25676577 rs6448389 A G 0.0 rs DP=1227;TI=NM_006424.2;GI=SLC34A2;FC=Missense;PC=D634G;DC=c.1901A>G;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,1225:587/640:1/1,586/639:0:0.0 chr4 53399716 . C CT 0.0 R8.1;lowQ;NC DP=155;TI=NM_030917.3;GI=FIP1L1;FC=Noncoding;DC=c.706-4dupT;LO=INTRON;EXON=10;oriDC=c.706-13dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.026:138,4:85/70:76/62,2/2:1:NA chr4 53399716 . CT C 0.0 R8.1;NC DP=155;TI=NM_030917.3;GI=FIP1L1;FC=Noncoding;DC=c.706-4delT;LO=INTRON;EXON=10;oriDC=c.706-13delT GT:VF:AD:SB:SA:SP:SO 0/1:0.084:138,13:85/70:76/62,7/6:0:NA chr4 53428143 . T A 0.0 lowQ DP=289;TI=NM_030917.3;GI=FIP1L1;FC=Synonymous;PC=P378=;DC=c.1134T>A;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:280,5:140/149:135/145,3/2:2:0.2 chr4 53428143 . T C 0.0 lowQ DP=289;TI=NM_030917.3;GI=FIP1L1;FC=Synonymous;PC=P378=;DC=c.1134T>C;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:280,4:140/149:135/145,2/2:0:0.0 chr4 53453080 . C CAG 0.0 lowQ DP=725;TI=NM_030917.3;GI=FIP1L1;FC=Frameshift;PC=E488fs;DC=c.1459_1460dupAG;LO=EXON;EXON=16;oriDC=c.1447_1448dupAG GT:VF:AD:SB:SA:SP:SO 0/1:0.011:680,8:331/394:311/369,4/4:1:NA chr4 53453080 . CAG C 0.0 Benign DP=725;TI=NM_030917.3;GI=FIP1L1;FC=Frameshift;PC=R487fs;DC=c.1459_1460delAG;LO=EXON;EXON=16;oriDC=c.1447_1448delAG;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.051:680,37:331/394:311/369,16/21:1:NA chr4 53458662 . A C 0.0 lowQ DP=408;TI=NM_030917.3;GI=FIP1L1;FC=Missense;PC=E503D;DC=c.1509A>C;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:398,10:214/194:209/189,5/5:1:0.0 chr4 53459317 . C T 0.0 lowQ DP=345;TI=NM_030917.3;GI=FIP1L1;FC=Synonymous;PC=R551=;DC=c.1653C>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:340,4:171/174:168/172,2/2:0:0.0 chr4 53459367 . C A 0.0 sb;lowQ;Benign DP=500;TI=NM_030917.3;GI=FIP1L1;FC=Missense;PC=S568Y;DC=c.1703C>A;LO=EXON;EXON=18;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.010:495,5:229/271:224/271,5/0:18:INF chr4 54049063 . A G 0.0 lowQ DP=243;TI=NM_012110.3;GI=CHIC2;FC=Synonymous;PC=C74=;DC=c.222T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:239,4:125/118:123/116,2/2:0:0.0 chr4 54258787 . G A 0.0 lowQ DP=1537;TI=NM_006206.5;GI=PDGFRA;FC=Missense;PC=A7T;DC=c.19G>A;LO=EXON;EXON=2;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1518,19:769/768:762/756,7/12:6:0.2 chr4 54263664 rs55947416 C T 0.0 . DP=990;TI=NM_006206.5;GI=PDGFRA;FC=Silent;DC=c.368-3C>T;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.434:560,430:562/428:315/245,247/183:2:0.0 chr4 54267719 . G A 0.0 Benign DP=1663;TI=NM_006206.5;GI=PDGFRA;FC=Missense;PC=V367M;DC=c.1099G>A;LO=EXON;EXON=7;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.479:867,796:817/846:427/440,390/406:0:0.0 chr4 54274888 rs1873778 A G 0.0 . DP=553;TI=NM_006206.5;GI=PDGFRA;FC=Synonymous;PC=P567=;DC=c.1701A>G;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 1/1:0.996:2,551:280/273:1/1,279/272:0:0.0 chr4 54295224 rs7685117 T C 0.0 . DP=1914;TI=NM_006206.5;GI=PDGFRA;FC=Synonymous;PC=D1074=;DC=c.3222T>C;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1914:823/1091:0/0,823/1091:0:INF chr4 54727315 rs55986963 A G 0.0 . DP=1434;TI=NM_000222.2;GI=KIT;FC=Synonymous;PC=K546=;DC=c.1638A>G;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.501:715,719:708/726:352/363,356/363:0:0.0 chr4 55110780 . T TA 0.0 R8.1 DP=584;TI=NM_002253.3;GI=KDR;FC=Noncoding;DC=c.977-13dupT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.101:297,59:284/300:143/154,27/32:1:NA chr4 55110780 . T TAA 0.0 R8.1 DP=584;TI=NM_002253.3;GI=KDR;FC=Noncoding;DC=c.977-14_977-13dupTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.279:297,163:284/300:143/154,83/80:2:NA chr4 55110780 . T TAAA 0.0 R8.1;lowQ DP=584;TI=NM_002253.3;GI=KDR;FC=Noncoding;DC=c.977-15_977-13dupTTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.036:297,21:284/300:143/154,11/10:2:NA chr4 55110780 . TA T 0.0 R8.1 DP=584;TI=NM_002253.3;GI=KDR;FC=Noncoding;DC=c.977-13delT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.068:297,40:284/300:143/154,18/22:1:NA chr4 56910763 . C T 0.0 lowQ DP=199;TI=NM_005612.4;GI=REST;FC=Missense;PC=A42V;DC=c.125C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:196,3:104/95:103/93,1/2:3:0.3 chr4 56911357 . G T 0.0 lowQ DP=162;TI=NM_005612.4;GI=REST;FC=Missense;PC=R240I;DC=c.719G>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:159,3:83/79:82/77,1/2:3:0.3 chr4 56931355 . A G 0.0 lowQ DP=295;TI=NM_005612.4;GI=REST;FC=Missense;PC=K833E;DC=c.2497A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:291,4:135/160:133/158,2/2:1:0.1 chr4 56932039 . G T 0.0 lowQ DP=198;TI=NM_005612.4;GI=REST;FC=Missense;PC=V1061F;DC=c.3181G>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:194,4:93/105:91/103,2/2:0:0.1 chr4 65332086 rs7349683 C T 0.0 rs DP=221;TI=NM_004439.7;GI=EPHA5;FC=Synonymous;PC=G965=;DC=c.2895G>A;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.443:123,98:98/123:55/68,43/55:0:0.0 chr4 65348155 . G A 0.0 lowQ DP=351;TI=NM_004439.7;GI=EPHA5;FC=Nonsense;PC=R853*;DC=c.2557C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:347,4:173/178:171/176,2/2:0:0.0 chr4 65351585 . TG T 0.0 lowQ DP=297;TI=NM_004439.7;GI=EPHA5;FC=Frameshift;PC=Q771fs;DC=c.2311delC;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:294,3:139/158:137/157,2/1:3:NA chr4 65353089 . T C 0.0 lowQ DP=313;TI=NM_004439.7;GI=EPHA5;FC=Missense;PC=I751V;DC=c.2251A>G;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:309,4:151/162:150/159,1/3:5:0.5 chr4 65377042 . C T 0.0 lowQ DP=220;TI=NM_004439.7;GI=EPHA5;FC=Synonymous;PC=G604=;DC=c.1812G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:216,4:109/111:107/109,2/2:0:0.0 chr4 65420484 . G C 0.0 lowQ DP=340;TI=NM_004439.7;GI=EPHA5;FC=Missense;PC=P495R;DC=c.1484C>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:335,5:175/165:173/162,2/3:2:0.2 chr4 74382717 rs2367707 A G 0.0 rs DP=511;TI=NM_001432.2;GI=EREG;FC=Synonymous;PC=E117=;DC=c.351A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.515:248,263:260/251:126/122,134/129:0:0.0 chr4 83462646 . T C 0.0 lowQ DP=347;TI=NM_139076.2;GI=ABRAXAS1;FC=Synonymous;PC=L351=;DC=c.1053A>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:343,4:166/181:164/179,2/2:0:0.0 chr4 87047304 . G A 0.0 . DP=1298;TI=NM_005935.3;GI=AFF1;FC=Missense;PC=A250T;DC=c.748G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.763:306,991:635/663:156/150,479/512:4:0.0 chr4 87090004 . G A 0.0 lowQ DP=203;TI=NM_005935.3;GI=AFF1;FC=Synonymous;PC=P368=;DC=c.1104G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:199,4:109/94:107/92,2/2:1:0.1 chr4 87114576 . A C 0.0 sb.s;lowQ DP=630;TI=NM_005935.3;GI=AFF1;FC=Synonymous;PC=P574=;DC=c.1722A>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:611,19:65/565:46/565,19/0:200:INF chr4 87127011 . A AT 0.0 R8.1;lowQ;NC DP=364;TI=NM_005935.3;GI=AFF1;FC=Noncoding;DC=c.2791-5dupT;LO=INTRON;EXON=14;oriDC=c.2791-14dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.025:349,9:202/162:193/156,5/4:0:NA chr4 87127011 . AT A 0.0 R8.1;lowQ;NC DP=364;TI=NM_005935.3;GI=AFF1;FC=Noncoding;DC=c.2791-5delT;LO=INTRON;EXON=14;oriDC=c.2791-14delT GT:VF:AD:SB:SA:SP:SO 0/1:0.016:349,6:202/162:193/156,4/2:2:NA chr4 87127017 . T TG 0.0 R8.1;NC DP=398;TI=NM_005935.3;GI=AFF1;FC=Noncoding;DC=c.2791-9_2791-8insG;LO=INTRON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.216:312,86:218/180:173/139,45/41:2:NA chr4 87135567 . G GT 0.0 lowQ;NC DP=287;TI=NM_005935.3;GI=AFF1;FC=Noncoding;DC=c.3512-5dupT;LO=INTRON;EXON=20;oriDC=c.3512-12dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.024:225,7:165/122:130/95,4/3:0:NA chr4 87135567 rs56703224 GT G 0.0 NC;rs DP=287;TI=NM_005935.3;GI=AFF1;FC=Noncoding;DC=c.3512-5delT;LO=INTRON;EXON=20;oriDC=c.3512-12delT GT:VF:AD:SB:SA:SP:SO 0/1:0.192:225,55:165/122:130/95,31/24:1:NA chr4 105234028 rs12498609 C G 0.0 Benign DP=1366;TI=NM_001127208.2;GI=TET2;FC=Missense;PC=P29R;DC=c.86C>G;LO=EXON;EXON=3;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.753:329,1028:727/639:178/151,543/485:2:0.0 chr4 105234306 . A C 0.0 lowQ DP=1237;TI=NM_001127208.2;GI=TET2;FC=Synonymous;PC=R122=;DC=c.364A>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1221,16:614/623:608/613,6/10:5:0.2 chr4 105272871 . C CG 0.0 lowQ DP=928;TI=NM_001127208.2;GI=TET2;FC=Frameshift;PC=R1498fs;DC=c.4490_4491insG;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:912,16:429/499:422/490,7/9:1:NA chr4 142082139 . G A 0.0 lowQ DP=172;TI=NM_003866.3;GI=INPP4B;FC=Missense;PC=A845V;DC=c.2534C>T;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:169,3:89/83:87/82,2/1:2:0.3 chr4 142086266 rs336324 A G 0.0 rs DP=111;TI=NM_003866.3;GI=INPP4B;FC=Silent;DC=c.2375-10T>C;LO=INTRON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.847:16,94:50/60:7/9,43/51:1:0.0 chr4 142112625 rs3822141 T C 0.0 rs DP=252;TI=NM_003866.3;GI=INPP4B;FC=Synonymous;PC=L731=;DC=c.2193A>G;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.238:192,60:127/125:96/96,31/29:1:0.0 chr4 142122132 . T G 0.0 lowQ DP=192;TI=NM_003866.3;GI=INPP4B;FC=Synonymous;PC=R711=;DC=c.2131A>C;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:189,3:106/86:104/85,2/1:2:0.2 chr4 142122251 rs13133767 C T 0.0 rs DP=209;TI=NM_003866.3;GI=INPP4B;FC=Silent;DC=c.2018-6G>A;LO=INTRON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.206:166,43:98/111:80/86,18/25:3:0.1 chr4 142123418 rs202239255 G GA 0.0 R8.1;lowQ;NC;rs DP=195;TI=NM_003866.3;GI=INPP4B;FC=Noncoding;DC=c.1894-4dupT;LO=INTRON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:190,3:98/97:95/95,2/1:2:NA chr4 142124683 . G A 0.0 lowQ DP=327;TI=NM_003866.3;GI=INPP4B;FC=Nonsense;PC=Q600*;DC=c.1798C>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:323,4:164/163:162/161,2/2:0:0.0 chr4 142145901 rs35390852 G A 0.0 rs DP=319;TI=NM_003866.3;GI=INPP4B;FC=Synonymous;PC=G553=;DC=c.1659C>T;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,319:164/155:0/0,164/155:0:INF chr4 142160403 . C T 0.0 lowQ DP=373;TI=NM_003866.3;GI=INPP4B;FC=Synonymous;PC=G506=;DC=c.1518G>A;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:369,4:205/168:203/166,2/2:1:0.1 chr4 142208441 . G T 0.0 lowQ DP=188;TI=NM_003866.3;GI=INPP4B;FC=Missense;PC=H352Q;DC=c.1056C>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:183,3:92/96:90/93,1/2:2:0.3 chr4 142402941 rs1982966 G A 0.0 rs DP=154;TI=NM_003866.3;GI=INPP4B;FC=Synonymous;PC=D123=;DC=c.369C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.695:47,107:83/71:25/22,58/49:0:0.0 chr4 152347075 . C CA 0.0 R8.1 DP=397;TI=NM_033632.3;GI=FBXW7;FC=Noncoding;DC=c.585-5dupT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.060:304,24:248/149:188/116,17/7:4:NA chr4 152347075 . C CAA 0.0 R8.1;lowQ DP=397;TI=NM_033632.3;GI=FBXW7;FC=Noncoding;DC=c.585-6_585-5dupTT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:304,4:248/149:188/116,3/1:2:NA chr4 152347075 . CA C 0.0 R8.1 DP=397;TI=NM_033632.3;GI=FBXW7;FC=Noncoding;DC=c.585-5delT;LO=INTRON;EXON=4;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.141:304,56:248/149:188/116,33/23:2:NA chr4 152347075 . CAA C 0.0 R8.1;lowQ DP=397;TI=NM_033632.3;GI=FBXW7;FC=Noncoding;DC=c.585-6_585-5delTT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:304,9:248/149:188/116,7/2:5:NA chr4 152411765 . T A 0.0 sb;RV DP=1453;TI=NM_033632.3;GI=FBXW7;FC=Synonymous;PC=R13=;DC=c.39A>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.072:1347,104:664/789:626/721,37/67:15:0.2 chr4 184419548 . G T 0.0 sb;lowQ DP=213;TI=NM_002199.3;GI=IRF2;FC=Synonymous;PC=I36=;DC=c.108C>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:210,3:133/80:133/77,0/3:16:INF chr4 184419570 . T TTA 0.0 sb;lowQ;NC DP=182;TI=NM_002199.3;GI=IRF2;FC=Noncoding;DC=c.88-3_88-2insTA;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:169,3:108/74:108/61,0/3:16:NA chr4 184419571 . G A 0.0 sb.s DP=139;TI=NM_002199.3;GI=IRF2;FC=Silent;DC=c.88-3C>T;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.058:131,8:109/30:109/22,0/8:76:INF chr4 184419571 rs750152068 G GA 0.0 R8.1;NC;rs DP=134;TI=NM_002199.3;GI=IRF2;FC=Noncoding;DC=c.88-4dupT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.090:84,12:107/27:61/23,11/1:8:NA chr4 184419571 rs750152068 G GAA 0.0 R8.1;NC;rs DP=134;TI=NM_002199.3;GI=IRF2;FC=Noncoding;DC=c.88-5_88-4dupTT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.067:84,9:107/27:61/23,9/0:12:NA chr4 184419571 . GA G 0.0 R8.1;NC DP=134;TI=NM_002199.3;GI=IRF2;FC=Noncoding;DC=c.88-4delT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.119:84,16:107/27:61/23,15/1:12:NA chr4 184419571 rs72397805 GAA G 0.0 R8.1;lowQ;NC;rs DP=134;TI=NM_002199.3;GI=IRF2;FC=Noncoding;DC=c.88-5_88-4delTT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.045:84,6:107/27:61/23,5/1:2:NA chr4 186596764 . C G 0.0 sb;lowQ DP=4123;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=S4259T;DC=c.12776G>C;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:4041,79:1977/2146:1926/2115,49/30:19:0.3 chr4 186598052 rs1280097 C G 0.0 Benign DP=1162;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=K4059N;DC=c.12177G>C;LO=EXON;EXON=23;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.998:0,1160:595/567:0/0,594/566:0:INF chr4 186613209 rs2249916 G A 0.0 . DP=4105;TI=NM_005245.3;GI=FAT1;FC=Synonymous;PC=N3121=;DC=c.9363C>T;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.199:3289,816:2019/2086:1610/1679,409/407:3:0.0 chr4 186613221 rs2249917 A G 0.0 . DP=3933;TI=NM_005245.3;GI=FAT1;FC=Synonymous;PC=D3117=;DC=c.9351T>C;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.200:3145,788:1930/2003:1544/1601,386/402:0:0.0 chr4 186617176 rs1280099 G A 0.0 . DP=817;TI=NM_005245.3;GI=FAT1;FC=Synonymous;PC=A2968=;DC=c.8904C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.195:658,159:356/461:292/366,64/95:5:0.1 chr4 186617788 . T G 0.0 Benign DP=998;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=Q2933P;DC=c.8798A>C;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.218:778,218:544/454:429/349,114/104:3:0.0 chr4 186617852 . T C 0.0 lowQ DP=1333;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=N2912D;DC=c.8734A>G;LO=EXON;EXON=10;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1314,17:710/623:698/616,11/6:5:0.2 chr4 186618628 . C T 0.0 lowQ DP=929;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=G2653D;DC=c.7958G>A;LO=EXON;EXON=10;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.022:909,20:480/449:469/440,11/9:1:0.1 chr4 186628209 . C T 0.0 . DP=2770;TI=NM_005245.3;GI=FAT1;FC=Synonymous;PC=T1585=;DC=c.4755G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.154:2344,426:1494/1276:1262/1082,232/194:1:0.0 chr4 186636739 rs328418 T C 0.0 Benign DP=1942;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=H1273R;DC=c.3818A>G;LO=EXON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.235:1485,457:1031/911:797/688,234/223:4:0.0 chr4 186636770 . C G 0.0 lowQ DP=2162;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=E1263Q;DC=c.3787G>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:2139,22:1091/1071:1080/1059,11/11:0:0.0 chr4 186663617 rs172903 C G 0.0 . DP=1199;TI=NM_005245.3;GI=FAT1;FC=Silent;DC=c.3266-4G>C;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1199:521/678:0/0,521/678:0:INF chr4 186706638 rs11939575 T C 0.0 Benign DP=1030;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=R1064G;DC=c.3190A>G;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.212:812,218:552/478:430/382,122/96:4:0.1 chr4 186706656 . C T 0.0 lowQ DP=1168;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=A1058T;DC=c.3172G>A;LO=EXON;EXON=2;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.017:1148,20:621/547:609/539,12/8:3:0.1 chr4 186707244 rs1877731 C G 0.0 Benign DP=1537;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=V862L;DC=c.2584G>C;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.203:1225,312:762/775:605/620,157/155:1:0.0 chr4 186707986 rs367863 G C 0.0 Benign DP=1235;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=F614L;DC=c.1842C>G;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.220:962,272:624/611:487/475,136/136:1:0.0 chr4 186708343 rs458021 G A 0.0 . DP=1500;TI=NM_005245.3;GI=FAT1;FC=Synonymous;PC=N495=;DC=c.1485C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.213:1180,320:718/782:560/620,158/162:3:0.0 chr4 186708384 rs3733413 C T 0.0 Benign DP=1468;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=V482I;DC=c.1444G>A;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.209:1161,307:729/739:580/581,149/158:2:0.0 chr4 186708616 rs3733414 A C 0.0 Benign DP=1238;TI=NM_005245.3;GI=FAT1;FC=Missense;PC=S404R;DC=c.1212T>G;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.204:986,252:611/627:486/500,125/127:0:0.0 chr5 230865 rs2288461 A G 0.0 . DP=5285;TI=NM_004168.3;GI=SDHA;FC=Silent;DC=c.771-11A>G;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:3,5275:2956/2329:2/1,2951/2324:1:0.2 chr5 230996 rs1126417 T C 0.0 . DP=5810;TI=NM_004168.3;GI=SDHA;FC=Synonymous;PC=P297=;DC=c.891T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,5800:2657/3151:1/1,2653/3147:0:0.1 chr5 236501 . CGGT CTGC 0.0 lowQ;Benign DP=10413;MergedVar=236502/G/T,236504/T/C;TI=NM_004168.3;GI=SDHA;FC=Missense;PC=V446A;DC=c.1335_1337delinsTGC;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.044:9939,459:5221/5177:4986/4952,234/224:0:0.0 chr5 236513 . C T 0.0 Benign DP=10911;TI=NM_004168.3;GI=SDHA;FC=Missense;PC=A449V;DC=c.1346C>T;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.054:10317,593:5402/5509:5099/5218,302/291:3:0.0 chr5 236534 . C T 0.0 Benign DP=10814;TI=NM_004168.3;GI=SDHA;FC=Missense;PC=S456L;DC=c.1367C>T;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.070:10049,759:5259/5555:4875/5174,381/378:4:0.0 chr5 236538 . C A 0.0 . DP=10727;TI=NM_004168.3;GI=SDHA;FC=Synonymous;PC=L457=;DC=c.1371C>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.073:9949,778:5209/5518:4820/5129,389/389:4:0.0 chr5 236563 . G A 0.0 Benign DP=10295;TI=NM_004168.3;GI=SDHA;FC=Missense;PC=A466T;DC=c.1396G>A;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.085:9419,874:4887/5408:4448/4971,438/436:10:0.1 chr5 256319 . ACT A 0.0 lowQ;Benign DP=1366;TI=NM_004168.3;GI=SDHA;FC=Noncoding;DC=c.1909-12_1909-11delCT;LO=INTRON;EXON=15;oriDC=c.1909-14_1909-13delCT;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.029:1327,39:735/631:713/614,22/17:1:NA chr5 256357 rs6961 G A 0.0 lowQ DP=1683;TI=NM_004168.3;GI=SDHA;FC=Synonymous;PC=V644=;DC=c.1932G>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:1633,50:867/816:840/793,27/23:1:0.0 chr5 256368 . CTT C 0.0 lowQ;Benign DP=1688;TI=NM_004168.3;GI=SDHA;FC=Frameshift;PC=L649fs;DC=c.1945_1946delTT;LO=EXON;EXON=15;oriDC=c.1944_1945delTT;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.024:1647,41:864/824:844/803,20/21:1:NA chr5 256399 . G C 0.0 lowQ DP=1664;TI=NM_004168.3;GI=SDHA;FC=Synonymous;PC=P658=;DC=c.1974G>C;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.028:1611,46:831/833:805/806,22/24:1:0.0 chr5 1293971 rs2736098 C T 0.0 . DP=8962;TI=NM_198253.2;GI=TERT;FC=Synonymous;PC=A305=;DC=c.915G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.479:4664,4294:4478/4484:2332/2332,2144/2150:0:0.0 chr5 1295113 . G A 0.0 sb DP=1839;TI=NM_198253.2;GI=TERT;FC=Promoter;DC=c.-124C>T;LO=PROMOTER;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.327:1236,602:1282/557:814/422,468/134:67:0.3 chr5 1295234 rs2853669 A G 0.0 Benign DP=2152;TI=NM_198253.2;GI=TERT;FC=Promoter;DC=c.-245T>C;LO=PROMOTER;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.512:1050,1102:1101/1051:540/510,561/541:1:0.0 chr5 35860966 rs1494558 T C 0.0 rs DP=429;TI=NM_002185.4;GI=IL7R;FC=Missense;PC=I66T;DC=c.197T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,429:208/221:0/0,208/221:0:INF chr5 35871088 rs1494555 G A 0.0 rs DP=356;TI=NM_002185.4;GI=IL7R;FC=Missense;PC=V138I;DC=c.412G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,356:180/176:0/0,180/176:0:INF chr5 35876172 rs3194051 A G 0.0 rs DP=519;TI=NM_002185.4;GI=IL7R;FC=Missense;PC=I356V;DC=c.1066A>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.545:236,283:269/250:126/110,143/140:3:0.0 chr5 38481944 . T C 0.0 lowQ DP=321;TI=NM_002310.5;GI=LIFR;FC=Missense;PC=Q982R;DC=c.2945A>G;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:317,4:156/165:154/163,2/2:0:0.0 chr5 38490185 . C T 0.0 lowQ DP=253;TI=NM_002310.5;GI=LIFR;FC=Silent;DC=c.2167+5G>A;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:249,4:130/123:128/121,2/2:0:0.0 chr5 38528849 . GAC G 0.0 R8.2;NC DP=317;TI=NM_002310.5;GI=LIFR;FC=Noncoding;DC=c.143-11_143-10delGT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.158:252,50:151/166:123/129,22/28:3:NA chr5 38528849 . GACAC G 0.0 R8.2;lowQ;NC DP=317;TI=NM_002310.5;GI=LIFR;FC=Noncoding;DC=c.143-13_143-10delGTGT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.035:252,11:151/166:123/129,4/7:4:NA chr5 38944460 . C T 0.0 lowQ DP=397;TI=NM_152756.4;GI=RICTOR;FC=Synonymous;PC=E1633=;DC=c.4899G>A;LO=EXON;EXON=36 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:393,4:202/195:200/193,2/2:0:0.0 chr5 38944533 . C T 0.0 lowQ DP=380;TI=NM_152756.4;GI=RICTOR;FC=Missense;PC=R1609H;DC=c.4826G>A;LO=EXON;EXON=36 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:376,4:181/199:179/197,2/2:0:0.0 chr5 38944584 . G T 0.0 lowQ DP=218;TI=NM_152756.4;GI=RICTOR;FC=Silent;DC=c.4790-15C>A;LO=INTRON;EXON=36 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:215,3:102/116:100/115,2/1:3:0.4 chr5 38945679 . A G 0.0 lowQ DP=294;TI=NM_152756.4;GI=RICTOR;FC=Missense;PC=L1482S;DC=c.4445T>C;LO=EXON;EXON=34 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:290,4:133/161:131/159,2/2:1:0.1 chr5 38945698 . C G 0.0 lowQ DP=244;TI=NM_152756.4;GI=RICTOR;FC=Missense;PC=V1476L;DC=c.4426G>C;LO=EXON;EXON=34 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:241,3:109/135:107/134,2/1:4:0.4 chr5 38950251 . G A 0.0 lowQ DP=490;TI=NM_152756.4;GI=RICTOR;FC=Synonymous;PC=S1199=;DC=c.3597C>T;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:480,10:250/240:246/234,4/6:3:0.2 chr5 38950674 rs2115949 G A 0.0 rs DP=361;TI=NM_152756.4;GI=RICTOR;FC=Synonymous;PC=S1058=;DC=c.3174C>T;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,361:166/195:0/0,166/195:0:INF chr5 38953563 rs33912683 G GA 0.0 R8.1;NC;rs DP=108;TI=NM_152756.4;GI=RICTOR;FC=Noncoding;DC=c.2698-11dupT;LO=INTRON;EXON=28 GT:VF:AD:SB:SA:SP:SO 0/1:0.639:35,69:51/55:18/17,32/37:2:NA chr5 38959329 . G GA 0.0 R8.1;lowQ;NC DP=191;TI=NM_152756.4;GI=RICTOR;FC=Noncoding;DC=c.2052-9dupT;LO=INTRON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.026:183,5:96/95:93/90,2/3:2:NA chr5 38959329 . GA G 0.0 R8.1;lowQ;NC DP=191;TI=NM_152756.4;GI=RICTOR;FC=Noncoding;DC=c.2052-9delT;LO=INTRON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:183,3:96/95:93/90,1/2:3:NA chr5 38962346 . G A 0.0 lowQ DP=215;TI=NM_152756.4;GI=RICTOR;FC=Synonymous;PC=L562=;DC=c.1684C>T;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:212,3:109/106:107/105,2/1:2:0.3 chr5 38962988 . C T 0.0 lowQ DP=385;TI=NM_152756.4;GI=RICTOR;FC=Missense;PC=R485Q;DC=c.1454G>A;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:381,4:184/201:182/199,2/2:0:0.0 chr5 38967163 . C A 0.0 lowQ DP=286;TI=NM_152756.4;GI=RICTOR;FC=Nonsense;PC=E406*;DC=c.1216G>T;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:282,4:148/138:146/136,2/2:0:0.0 chr5 38967333 . C A 0.0 lowQ DP=296;TI=NM_152756.4;GI=RICTOR;FC=Silent;DC=c.1151+4G>T;LO=INTRON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:293,3:145/151:143/150,2/1:3:0.3 chr5 38975610 . G A 0.0 lowQ DP=235;TI=NM_152756.4;GI=RICTOR;FC=Silent;DC=c.822-6C>T;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:231,4:116/119:114/117,2/2:0:0.0 chr5 38978656 . T TA 0.0 R8.1;NC DP=223;TI=NM_152756.4;GI=RICTOR;FC=Noncoding;DC=c.754-7dupT;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.090:192,20:113/110:97/95,10/10:0:NA chr5 38978656 . TA T 0.0 R8.1;lowQ;NC DP=223;TI=NM_152756.4;GI=RICTOR;FC=Noncoding;DC=c.754-7delT;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.040:192,9:113/110:97/95,5/4:1:NA chr5 39003549 . C T 0.0 lowQ DP=255;TI=NM_152756.4;GI=RICTOR;FC=Silent;DC=c.260+9G>A;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:251,4:130/125:128/123,2/2:0:0.0 chr5 44388612 . AAGC A 0.0 lowQ DP=2598;TI=NM_004465.1;GI=FGF10;FC=CODON_DELETION;PC=C23del;DC=c.68_70delGCT;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:2544,39:1321/1277:1295/1249,18/21:3:NA chr5 56815924 rs28710284 G C 0.0 . DP=3144;TI=NM_005921.1;GI=MAP3K1;FC=Synonymous;PC=A117=;DC=c.351G>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,3137:1622/1520:1/1,1619/1518:0:0.0 chr5 56856589 rs832567 C A 0.0 . DP=494;TI=NM_005921.1;GI=MAP3K1;FC=Silent;DC=c.483-11C>A;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.178:406,88:298/196:246/160,52/36:1:0.0 chr5 56865960 rs832575 G A 0.0 . DP=651;TI=NM_005921.1;GI=MAP3K1;FC=Synonymous;PC=T428=;DC=c.1284G>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,651:308/343:0/0,308/343:0:INF chr5 56881616 rs702689 G A 0.0 Benign DP=1044;TI=NM_005921.1;GI=MAP3K1;FC=Missense;PC=D806N;DC=c.2416G>A;LO=EXON;EXON=14;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.197:837,206:570/474:454/383,115/91:2:0.0 chr5 56881916 rs832582 G A 0.0 Benign DP=1439;TI=NM_005921.1;GI=MAP3K1;FC=Missense;PC=V906I;DC=c.2716G>A;LO=EXON;EXON=14;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1439:735/704:0/0,735/704:0:INF chr5 56882021 . TCAA T 0.0 Benign DP=1283;TI=NM_005921.1;GI=MAP3K1;FC=CODON_DELETION;PC=T949del;DC=c.2845_2847delACA;LO=EXON;EXON=14;oriDC=c.2822_2824delCAA;oriPC=T942del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.707:351,907:635/648:173/178,452/455:1:NA chr5 56882021 . TCAACAA T 0.0 lowQ;Benign DP=1023;TI=NM_005921.1;GI=MAP3K1;FC=CODON_DELETION;PC=T948_T949del;DC=c.2842_2847delACAACA;LO=EXON;EXON=14;oriDC=c.2822_2827delCAACAA;oriPC=T942_T943del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.036:986,37:502/521:486/500,16/21:0:INF chr5 56882390 rs832583 A C 0.0 . DP=1400;TI=NM_005921.1;GI=MAP3K1;FC=Synonymous;PC=R1064=;DC=c.3190A>C;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,1397:702/698:1/1,701/696:0:0.0 chr5 56882524 . T C 0.0 lowQ DP=1195;TI=NM_005921.1;GI=MAP3K1;FC=Synonymous;PC=S1108=;DC=c.3324T>C;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1179,16:565/630:559/620,6/10:4:0.2 chr5 56883514 rs16886463 G A 0.0 . DP=801;TI=NM_005921.1;GI=MAP3K1;FC=Silent;DC=c.3667-13G>A;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.774:181,620:442/359:103/78,339/281:2:0.0 chr5 56884653 rs3736430 A G 0.0 . DP=672;TI=NM_005921.1;GI=MAP3K1;FC=Silent;DC=c.3820-11A>G;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.771:154,518:384/288:84/70,300/218:3:0.1 chr5 68226894 rs706713 C T 0.0 . DP=1421;TI=NM_181523.2;GI=PIK3R1;FC=Synonymous;PC=Y73=;DC=c.219C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.763:337,1084:676/745:156/181,520/564:2:0.0 chr5 68279720 rs61749601 T C 0.0 . DP=1228;TI=NM_181523.2;GI=PIK3R1;FC=Synonymous;PC=I207=;DC=c.621T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.217:962,266:607/621:477/485,130/136:1:0.0 chr5 68280554 . C A 0.0 sb;lowQ DP=421;TI=NM_181523.2;GI=PIK3R1;FC=Missense;PC=Q221K;DC=c.661C>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:416,5:195/226:190/226,5/0:18:INF chr5 80654962 rs1650697 A G 0.0 Benign DP=1586;TI=NM_002439.4;GI=MSH3;FC=Missense;PC=I79V;DC=c.235A>G;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.221:1234,351:637/949:488/746,148/203:4:0.0 chr5 80656408 . T C 0.0 lowQ DP=883;TI=NM_002439.4;GI=MSH3;FC=Silent;DC=c.238-3T>C;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:872,11:485/398:479/393,6/5:0:0.0 chr5 80672336 . C T 0.0 lowQ DP=721;TI=NM_002439.4;GI=MSH3;FC=Synonymous;PC=R295=;DC=c.885C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.028:701,20:362/359:352/349,10/10:0:0.0 chr5 80675095 . C CA 0.0 lowQ DP=794;TI=NM_002439.4;GI=MSH3;FC=Frameshift;PC=N385fs;DC=c.1148dupA;LO=EXON;EXON=7;oriDC=c.1141dupA;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.013:781,10:417/375:411/370,5/5:1:NA chr5 80854162 rs184967 A G 0.0 Benign DP=824;TI=NM_002439.4;GI=MSH3;FC=Missense;PC=Q949R;DC=c.2846A>G;LO=EXON;EXON=21;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.995:2,820:432/392:1/1,430/390:0:0.0 chr5 80873118 rs26279 G A 0.0 Benign DP=673;TI=NM_002439.4;GI=MSH3;FC=Missense;PC=A1045T;DC=c.3133G>A;LO=EXON;EXON=23;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.997:2,671:370/303:1/1,369/302:0:0.1 chr5 87338031 . G A 0.0 lowQ DP=136;TI=NM_002890.2;GI=RASA1;FC=Nonsense;PC=W319*;DC=c.957G>A;LO=EXON;EXON=5;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.029:132,4:69/67:67/65,2/2:0:0.0 chr5 87362574 . C T 0.0 lowQ DP=170;TI=NM_002890.2;GI=RASA1;FC=Synonymous;PC=D452=;DC=c.1356C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:167,3:84/86:83/84,1/2:2:0.3 chr5 87374149 . T A 0.0 lowDP DP=16;TI=NM_002890.2;GI=RASA1;FC=Silent;DC=c.1777-14T>A;LO=INTRON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,16:9/7:0/0,9/7:0:INF chr5 112707473 rs75580617 A C 0.0 rs DP=11276 GT:VF:AD:SB:SA:SP:SO 0/1:0.492:5720,5551:5784/5492:2918/2802,2864/2687:3:0.0 chr5 112707585 rs79896135 C G 0.0 . DP=11880;TI=NM_001127511.2;GI=APC;FC=Silent;DC=c.-133C>G;LO=5UTR;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.474:6210,5627:5839/6010:3070/3140,2764/2863:1:0.0 chr5 112827157 rs2229992 T C 0.0 . DP=1533;TI=NM_000038.5;GI=APC;FC=Synonymous;PC=Y486=;DC=c.1458T>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:2,1528:772/761:1/1,769/759:0:0.0 chr5 112828864 rs351771 G A 0.0 . DP=964;TI=NM_000038.5;GI=APC;FC=Synonymous;PC=A545=;DC=c.1635G>A;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,963:522/442:0/0,522/441:0:INF chr5 112828917 . T C 0.0 lowQ DP=1476;TI=NM_000038.5;GI=APC;FC=Missense;PC=L563S;DC=c.1688T>C;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1461,15:765/711:757/704,8/7:0:0.0 chr5 112840073 rs41115 G A 0.0 . DP=1534;TI=NM_000038.5;GI=APC;FC=Synonymous;PC=T1493=;DC=c.4479G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1534:743/791:0/0,743/791:0:INF chr5 112840628 rs42427 G A 0.0 . DP=1727;TI=NM_000038.5;GI=APC;FC=Synonymous;PC=G1678=;DC=c.5034G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:4,1723:839/888:2/2,837/886:0:0.0 chr5 112840862 rs866006 T G 0.0 . DP=1470;TI=NM_000038.5;GI=APC;FC=Synonymous;PC=S1756=;DC=c.5268T>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1470:715/755:0/0,715/755:0:INF chr5 112841059 rs459552 T A 0.0 Benign DP=1168;TI=NM_000038.5;GI=APC;FC=Missense;PC=V1822D;DC=c.5465T>A;LO=EXON;EXON=16;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,1167:608/560:0/1,608/559:0:INF chr5 112841474 rs465899 G A 0.0 . DP=1873;TI=NM_000038.5;GI=APC;FC=Synonymous;PC=P1960=;DC=c.5880G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1871:896/977:0/0,895/976:0:INF chr5 112841850 . C G 0.0 . DP=1445;TI=NM_000038.5;GI=APC;FC=Missense;PC=P2086A;DC=c.6256C>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.498:723,720:732/713:367/356,364/356:0:0.0 chr5 112842096 . C T 0.0 . DP=1158;TI=NM_000038.5;GI=APC;FC=Synonymous;PC=L2168=;DC=c.6502C>T;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.506:572,586:588/570:298/274,290/296:4:0.0 chr5 122423542 . C T 0.0 lowQ DP=450;TI=NM_005460.3;GI=SNCAIP;FC=Nonsense;PC=R269*;DC=c.805C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:444,6:228/222:225/219,3/3:0:0.0 chr5 122423721 . A G 0.0 lowQ DP=289;TI=NM_005460.3;GI=SNCAIP;FC=Synonymous;PC=E328=;DC=c.984A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:286,3:128/161:126/160,2/1:4:0.4 chr5 122425389 . A T 0.0 lowQ DP=439;TI=NM_005460.3;GI=SNCAIP;FC=Missense;PC=D347V;DC=c.1040A>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:434,5:239/200:237/197,2/3:3:0.3 chr5 122431980 . G C 0.0 lowQ DP=200;TI=NM_005460.3;GI=SNCAIP;FC=Missense;PC=L398F;DC=c.1194G>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:196,4:102/98:100/96,2/2:0:0.0 chr5 122440712 . C T 0.0 lowQ DP=395;TI=NM_005460.3;GI=SNCAIP;FC=Synonymous;PC=A460=;DC=c.1380C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:391,4:192/203:190/201,2/2:0:0.0 chr5 122451402 . A T 0.0 lowQ DP=577;TI=NM_005460.3;GI=SNCAIP;FC=Missense;PC=E852V;DC=c.2555A>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:569,8:276/301:272/297,4/4:0:0.0 chr5 123090166 . AGCC A 0.0 lowQ;Benign DP=246;TI=NM_001136239.3;GI=PRDM6;FC=CODON_DELETION;PC=P56del;DC=c.165_167delGCC;LO=EXON;EXON=2;oriDC=c.153_155delGCC;oriPC=P52del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.024:240,6:129/117:126/114,3/3:0:NA chr5 123090476 . C T 0.0 lowQ DP=411;TI=NM_001136239.3;GI=PRDM6;FC=Synonymous;PC=G154=;DC=c.462C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:401,8:207/202:203/198,4/4:0:0.0 chr5 123090548 . T G 0.0 sb;lowQ DP=450;TI=NM_001136239.3;GI=PRDM6;FC=Nonsense;PC=Y178*;DC=c.534T>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:445,5:236/214:236/209,0/5:17:INF chr5 123099702 . G A 0.0 lowQ DP=316;TI=NM_001136239.3;GI=PRDM6;FC=Missense;PC=G214E;DC=c.641G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:312,4:175/141:173/139,2/2:1:0.1 chr5 123099923 . C G 0.0 lowQ DP=261;TI=NM_001136239.3;GI=PRDM6;FC=Missense;PC=Q288E;DC=c.862C>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:258,3:119/142:118/140,1/2:2:0.2 chr5 123155969 . C T 0.0 lowQ DP=183;TI=NM_001136239.3;GI=PRDM6;FC=Missense;PC=A329V;DC=c.986C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:180,3:94/89:92/88,2/1:2:0.3 chr5 123155980 . G A 0.0 lowQ DP=170;TI=NM_001136239.3;GI=PRDM6;FC=Missense;PC=G333R;DC=c.997G>A;LO=EXON;EXON=4;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.024:166,4:86/84:84/82,2/2:0:0.0 chr5 131971551 . T C 0.0 lowQ DP=309;TI=NM_015256.3;GI=ACSL6;FC=Missense;PC=Q478R;DC=c.1433A>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:305,4:163/146:161/144,2/2:0:0.0 chr5 131974769 . G A 0.0 lowQ DP=395;TI=NM_015256.3;GI=ACSL6;FC=Nonsense;PC=R353*;DC=c.1057C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:391,4:212/183:210/181,2/2:1:0.1 chr5 132486363 rs9282762 T C 0.0 rs DP=1815;TI=NM_002198.2;GI=IRF1;FC=Synonymous;PC=P185=;DC=c.555A>G;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:4,1811:880/935:2/2,878/933:0:0.0 chr5 132486380 rs2070724 A G 0.0 rs DP=1638;TI=NM_002198.2;GI=IRF1;FC=Silent;DC=c.545-7T>C;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:0,1634:777/859:0/0,777/857:0:INF chr5 132588671 rs201800554 AT A 0.0 R8.1;lowQ DP=442;TI=NM_005732.3;GI=RAD50;FC=Noncoding;DC=c.1052-6delT;LO=INTRON;EXON=8;oriDC=c.1052-15delT GT:VF:AD:SB:SA:SP:SO 0/1:0.020:424,9:240/202:230/194,5/4:0:NA chr5 132595759 . T TA 0.0 R8.1;lowQ DP=1455;TI=NM_005732.3;GI=RAD50;FC=Frameshift;PC=E723fs;DC=c.2165dupA;LO=EXON;EXON=13;oriDC=c.2157dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.021:1400,31:793/662:760/640,18/13:2:NA chr5 132595759 . TA T 0.0 R8.1;lowQ DP=1455;TI=NM_005732.3;GI=RAD50;FC=Frameshift;PC=K722fs;DC=c.2165delA;LO=EXON;EXON=13;oriDC=c.2157delA GT:VF:AD:SB:SA:SP:SO 0/1:0.016:1400,24:793/662:760/640,15/9:4:NA chr5 132603394 . A G 0.0 lowQ DP=647;TI=NM_005732.3;GI=RAD50;FC=Missense;PC=I768V;DC=c.2302A>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:639,7:317/330:313/326,4/3:2:0.1 chr5 132604949 . CA C 0.0 lowQ DP=587;TI=NM_005732.3;GI=RAD50;FC=Frameshift;PC=Q890fs;DC=c.2669delA;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:581,6:262/325:259/322,3/3:1:NA chr5 132608689 . C CA 0.0 lowQ DP=489;TI=NM_005732.3;GI=RAD50;FC=Frameshift;PC=N934fs;DC=c.2801dupA;LO=EXON;EXON=17;oriDC=c.2794dupA;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.010:478,5:253/236:247/231,3/2:1:NA chr5 132608689 . CA C 0.0 lowQ DP=489;TI=NM_005732.3;GI=RAD50;FC=Frameshift;PC=N934fs;DC=c.2801delA;LO=EXON;EXON=17;oriDC=c.2794delA;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.012:478,6:253/236:247/231,3/3:0:NA chr5 138812254 rs11552054 A C 0.0 . DP=2754;TI=NM_001903.4;GI=CTNNA1;FC=Synonymous;PC=L180=;DC=c.540A>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.508:1355,1399:1372/1382:678/677,694/705:1:0.0 chr5 138886300 rs288028 G C 0.0 . DP=883;TI=NM_001903.4;GI=CTNNA1;FC=Silent;DC=c.1143+8G>C;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.532:411,470:416/467:193/218,222/248:0:0.0 chr5 138930857 rs1059110 G A 0.0 . DP=5254;TI=NM_001903.4;GI=CTNNA1;FC=Synonymous;PC=S740=;DC=c.2220G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.489:2684,2567:2689/2565:1365/1319,1322/1245:2:0.0 chr5 150068208 rs34928010 G A 0.0 . DP=4158;TI=NM_005211.3;GI=CSF1R;FC=Silent;DC=c.1626+7C>T;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.474:2182,1972:2299/1858:1208/974,1090/882:0:0.0 chr5 150078115 rs2228422 G A 0.0 . DP=4728;TI=NM_005211.3;GI=CSF1R;FC=Synonymous;PC=T242=;DC=c.726C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:2,4726:2576/2152:1/1,2575/2151:0:0.1 chr5 150080990 rs216123 A G 0.0 . DP=7294;TI=NM_005211.3;GI=CSF1R;FC=Synonymous;PC=P28=;DC=c.84T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.501:3637,3654:3440/3854:1722/1915,1717/1937:1:0.0 chr5 157232361 . C T 0.0 lowQ DP=347;TI=NM_005546.3;GI=ITK;FC=Synonymous;PC=S245=;DC=c.735C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:343,4:181/166:179/164,2/2:0:0.0 chr5 157249016 . A G 0.0 lowQ DP=329;TI=NM_005546.3;GI=ITK;FC=Silent;DC=c.1791+9A>G;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:325,4:144/185:142/183,2/2:1:0.1 chr5 161686356 . G A 0.0 lowQ DP=339;TI=NM_000811.2;GI=GABRA6;FC=Silent;DC=c.157+8G>A;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:335,4:155/184:153/182,2/2:1:0.1 chr5 161692065 rs12522663 G T 0.0 rs DP=437;TI=NM_000811.2;GI=GABRA6;FC=Synonymous;PC=A317=;DC=c.951G>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,437:231/206:0/0,231/206:0:INF chr5 161701755 . C G 0.0 . DP=212;TI=NM_000811.2;GI=GABRA6;FC=Synonymous;PC=V448=;DC=c.1344C>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,212:95/117:0/0,95/117:0:INF chr5 171410545 . C A 0.0 lowQ DP=111;TI=NM_002520.6;GI=NPM1;FC=Missense;PC=Q289K;DC=c.865C>A;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.036:107,4:61/50:59/48,2/2:1:0.1 chr5 177090460 rs446382 T G 0.0 . DP=7693;TI=NM_002011.4;GI=FGFR4;FC=Synonymous;PC=R54=;DC=c.162T>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,7685:4019/3674:1/1,4015/3670:0:0.0 chr5 177090796 rs376618 C T 0.0 Benign DP=6487;TI=NM_002011.4;GI=FGFR4;FC=Missense;PC=P136L;DC=c.407C>T;LO=EXON;EXON=4;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,6487:3241/3246:0/0,3241/3246:0:INF chr5 177091783 rs452885 C T 0.0 . DP=6002;TI=NM_002011.4;GI=FGFR4;FC=Synonymous;PC=R234=;DC=c.702C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:2,6000:2751/3251:1/1,2750/3250:0:0.1 chr5 177093242 rs351855 G A 0.0 Benign DP=8040;TI=NM_002011.4;GI=FGFR4;FC=Missense;PC=G388R;DC=c.1162G>A;LO=EXON;EXON=9;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.475:4211,3823:4062/3978:2119/2092,1940/1883:2:0.0 chr5 177093282 . G C 0.0 sb.s;lowQ DP=4345;TI=NM_002011.4;GI=FGFR4;FC=Missense;PC=R401P;DC=c.1202G>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.041:4140,176:447/3875:271/3869,175/1:200:3.4 chr5 177093286 . G C 0.0 sb.s;lowQ DP=4258;TI=NM_002011.4;GI=FGFR4;FC=Synonymous;PC=P402=;DC=c.1206G>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:4128,126:431/3827:305/3823,126/0:200:INF chr5 177095561 rs351854 C T 0.0 . DP=6866;TI=NM_002011.4;GI=FGFR4;FC=Synonymous;PC=A553=;DC=c.1659C>T;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.462:3695,3169:3367/3499:1819/1876,1547/1622:1:0.0 chr5 177095727 rs42409 C T 0.0 . DP=5808;TI=NM_002011.4;GI=FGFR4;FC=Silent;DC=c.1821+4C>T;LO=INTRON;EXON=13 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,5807:2637/3171:0/0,2636/3171:0:INF chr5 177096596 rs31776 A G 0.0 . DP=5977;TI=NM_002011.4;GI=FGFR4;FC=Silent;DC=c.2016-8A>G;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:3,5970:3349/2626:3/0,3344/2626:9:INF chr5 177209881 rs1363405 C T 0.0 . DP=2519;TI=NM_022455.4;GI=NSD1;FC=Synonymous;PC=C494=;DC=c.1482C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.508:1239,1280:1229/1290:606/633,623/657:0:0.0 chr5 177210571 . G T 0.0 sb;lowQ DP=1847;TI=NM_022455.4;GI=NSD1;FC=Missense;PC=E724D;DC=c.2172G>T;LO=EXON;EXON=5;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.014:1819,26:955/892:934/885,20/6:20:0.5 chr5 177210764 . A C 0.0 lowQ DP=1830;TI=NM_022455.4;GI=NSD1;FC=Missense;PC=S789R;DC=c.2365A>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1810,20:899/931:892/918,7/13:7:0.3 chr5 177212104 rs28932181 T C 0.0 . DP=1850;TI=NM_022455.4;GI=NSD1;FC=Synonymous;PC=N1235=;DC=c.3705T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.517:894,956:881/969:419/475,462/494:3:0.0 chr5 177280809 . T G 0.0 sb;lowQ DP=1855;TI=NM_022455.4;GI=NSD1;FC=Missense;PC=L1956R;DC=c.5867T>G;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1836,19:802/1053:798/1038,4/15:13:0.5 chr5 177294118 rs35848863 G A 0.0 Benign DP=7108;TI=NM_022455.4;GI=NSD1;FC=Missense;PC=M2250I;DC=c.6750G>A;LO=EXON;EXON=23;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.473:3747,3359:3578/3530:1892/1855,1685/1674:1:0.0 chr5 177294150 rs34165241 T C 0.0 Benign DP=7004;TI=NM_022455.4;GI=NSD1;FC=Missense;PC=M2261T;DC=c.6782T>C;LO=EXON;EXON=23;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.481:3634,3367:3545/3459:1843/1791,1701/1666:1:0.0 chr5 177294197 rs28580074 T C 0.0 . DP=6973;TI=NM_022455.4;GI=NSD1;FC=Synonymous;PC=L2277=;DC=c.6829T>C;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:7,6962:3518/3455:4/3,3512/3450:1:0.1 chr5 177295004 rs78247455 G A 0.0 Benign DP=7446;TI=NM_022455.4;GI=NSD1;FC=Missense;PC=A2546T;DC=c.7636G>A;LO=EXON;EXON=23;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.475:3907,3535:3694/3752:1926/1981,1765/1770:2:0.0 chr5 180619344 rs448012 G C 0.0 Benign DP=530;TI=NM_002020.4;GI=FLT4;FC=Missense;PC=H890Q;DC=c.2670C>G;LO=EXON;EXON=19;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,530:259/271:0/0,259/271:0:INF chr6 18258068 . G A 0.0 lowQ DP=147;TI=NM_003472.3;GI=DEK;FC=Silent;DC=c.248-6C>T;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.034:142,5:69/78:67/75,2/3:1:0.1 chr6 18258068 . G GA 0.0 R8.1;lowQ;NC DP=144;TI=NM_003472.3;GI=DEK;FC=Noncoding;DC=c.248-7dupT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.035:128,5:68/76:61/67,2/3:1:NA chr6 18258068 . GA G 0.0 R8.1;NC DP=144;TI=NM_003472.3;GI=DEK;FC=Noncoding;DC=c.248-7delT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.062:128,9:68/76:61/67,4/5:1:NA chr6 18263847 . TTCC T 0.0 lowQ DP=1773;TI=NM_003472.3;GI=DEK;FC=CODON_DELETION;PC=E47del;DC=c.138_140delGGA;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:1727,31:1028/745:1002/725,17/14:1:NA chr6 26031640 rs2213284 G A 0.0 . DP=2681;TI=NM_003537.3;GI=HIST1H3B;FC=Silent;DC=c.*10C>T;LO=3UTR;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2680:1585/1096:0/0,1585/1095:0:INF chr6 26045509 rs3752418 C G 0.0 . DP=3020;TI=NM_003531.2;GI=HIST1H3C;FC=Synonymous;PC=T33=;DC=c.99C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.488:1542,1473:1722/1298:879/663,841/632:0:0.0 chr6 26045701 rs3752416 T C 0.0 . DP=4182;TI=NM_003531.2;GI=HIST1H3C;FC=Synonymous;PC=C97=;DC=c.291T>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:5,4177:1863/2319:2/3,1861/2316:1:0.1 chr6 28904669 rs209126 T C 0.0 rs DP=759;TI=NM_006510.4;GI=TRIM27;FC=Silent;DC=c.947-4A>G;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:0.995:0,755:323/434:0/0,322/433:0:INF chr6 30713139 rs9262152 C T 0.0 rs DP=1772;TI=NM_014641.2;GI=MDC1;FC=Missense;PC=R268K;DC=c.803G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:894,878:847/925:434/460,413/465:3:0.0 chr6 30894646 rs1264319 C T 0.0 rs DP=2253;TI=NM_013994.2;GI=DDR1;FC=Synonymous;PC=S496=;DC=c.1488C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.461:1212,1038:1071/1182:582/630,488/550:2:0.0 chr6 30897052 rs1049623 T C 0.0 rs DP=1464;TI=NM_013994.2;GI=DDR1;FC=Synonymous;PC=V636=;DC=c.1908T>C;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:740,724:731/733:372/368,359/365:1:0.0 chr6 33320019 rs146304558 G C 0.0 Benign;rs DP=1283;TI=NM_001141969.1;GI=DAXX;FC=Missense;PC=A486G;DC=c.1457C>G;LO=EXON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.487:658,625:687/596:353/305,334/291:0:0.0 chr6 33320120 . TTCC T 0.0 lowQ DP=1603;TI=NM_001141969.1;GI=DAXX;FC=CODON_DELETION;PC=E452del;DC=c.1353_1355delGGA;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1581,20:860/741:852/729,8/12:7:NA chr6 35455885 rs4713867 A C 0.0 . DP=6930;TI=NM_021922.2;GI=FANCE;FC=Synonymous;PC=P129=;DC=c.387A>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.499:3467,3456:3387/3543:1707/1760,1677/1779:3:0.0 chr6 35462909 rs9462088 G A 0.0 Benign DP=3913;TI=NM_021922.2;GI=FANCE;FC=Missense;PC=A502T;DC=c.1504G>A;LO=EXON;EXON=9;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.467:2087,1826:1839/2074:998/1089,841/985:6:0.0 chr6 36596886 . G T 0.0 lowQ DP=1268;TI=NM_003017.4;GI=SRSF3;FC=Missense;PC=A42S;DC=c.124G>T;LO=EXON;EXON=2;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1251,17:641/627:634/617,7/10:4:0.2 chr6 36596891 . A C 0.0 lowQ DP=1267;TI=NM_003017.4;GI=SRSF3;FC=Missense;PC=R43S;DC=c.129A>C;LO=EXON;EXON=2;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1251,14:634/631:629/622,5/9:6:0.3 chr6 36598881 . T C 0.0 lowQ DP=370;TI=NM_003017.4;GI=SRSF3;FC=Missense;PC=L80P;DC=c.239T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:366,4:191/179:189/177,2/2:0:0.0 chr6 36601960 . A C 0.0 RV DP=99;TI=NM_003017.4;GI=SRSF3;FC=Splicing;DC=c.468-2A>C;LO=SPLICING;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.061:93,6:33/66:29/64,4/2:11:0.6 chr6 41684776 rs2073158 C T 0.0 rs DP=2373;TI=NM_007162.2;GI=TFEB;FC=Synonymous;PC=A418=;DC=c.1254G>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.481:1231,1142:1180/1193:611/620,569/573:0:0.0 chr6 41684866 rs1062966 T C 0.0 rs DP=2025;TI=NM_007162.2;GI=TFEB;FC=Synonymous;PC=P388=;DC=c.1164A>G;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.485:1039,982:1110/915:587/452,522/460:9:0.1 chr6 41691091 . TTGC T 0.0 lowQ DP=2232;TI=NM_007162.2;GI=TFEB;FC=CODON_DELETION;PC=Q41del;DC=c.120_122delGCA;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:2186,37:1160/1072:1138/1048,18/19:2:NA chr6 41936044 rs1051130 A C 0.0 Benign DP=8652;TI=NM_001760.4;GI=CCND3;FC=Missense;PC=S259A;DC=c.775T>G;LO=EXON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.507:4249,4385:4166/4486:2057/2192,2100/2285:2:0.0 chr6 43771122 . T G 0.0 sb;lowQ;Benign DP=1897;TI=NM_001025366.2;GI=VEGFA;FC=Missense;PC=L139R;DC=c.416T>G;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.027:1833,51:1035/862:1017/816,13/38:47:0.6 chr6 43771127 . C A 0.0 lowQ DP=1811;TI=NM_001025366.2;GI=VEGFA;FC=Synonymous;PC=R141=;DC=c.421C>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1785,24:1013/798:1001/784,12/12:3:0.1 chr6 43771134 . C G 0.0 lowQ DP=1657;TI=NM_001025366.2;GI=VEGFA;FC=Missense;PC=S143W;DC=c.428C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1632,22:937/720:925/707,10/12:5:0.2 chr6 44250029 . A G 0.0 lowQ DP=298;TI=NM_001271969.1;GI=HSP90AB1;FC=Missense;PC=I175V;DC=c.523A>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:294,4:152/146:150/144,2/2:0:0.0 chr6 44250336 . G T 0.0 lowQ DP=381;TI=NM_001271969.1;GI=HSP90AB1;FC=Nonsense;PC=E232*;DC=c.694G>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:377,4:208/173:206/171,2/2:1:0.1 chr6 44250383 rs13296 A G 0.0 rs DP=432;TI=NM_001271969.1;GI=HSP90AB1;FC=Synonymous;PC=K247=;DC=c.741A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:0.993:3,429:221/211:2/1,219/210:2:0.3 chr6 44251164 . C A 0.0 lowQ DP=374;TI=NM_001271969.1;GI=HSP90AB1;FC=Synonymous;PC=R358=;DC=c.1074C>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:370,4:190/184:188/182,2/2:0:0.0 chr6 44253595 . T C 0.0 lowQ DP=927;TI=NM_001271969.1;GI=HSP90AB1;FC=Synonymous;PC=D724=;DC=c.2172T>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:913,14:411/516:404/509,7/7:2:0.1 chr6 93245467 . A G 0.0 lowQ DP=268;TI=NM_004440.3;GI=EPHA7;FC=Silent;DC=c.2727-14T>C;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:265,3:129/139:128/137,1/2:2:0.3 chr6 93257531 . T TA 0.0 R8.1;lowQ;NC DP=173;TI=NM_004440.3;GI=EPHA7;FC=Noncoding;DC=c.2111-9dupT;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.035:165,6:87/86:83/82,3/3:0:NA chr6 93258133 rs345730 C T 0.0 rs DP=393;TI=NM_004440.3;GI=EPHA7;FC=Synonymous;PC=P692=;DC=c.2076G>A;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.448:217,176:214/179:122/95,92/84:4:0.1 chr6 93263863 . G C 0.0 lowQ DP=232;TI=NM_004440.3;GI=EPHA7;FC=Missense;PC=H599D;DC=c.1795C>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:228,4:119/113:117/111,2/2:0:0.0 chr6 93272406 rs345713 A G 0.0 rs DP=338;TI=NM_004440.3;GI=EPHA7;FC=Synonymous;PC=S447=;DC=c.1341T>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:0.991:1,335:160/176:0/1,160/175:0:INF chr6 93358263 rs164544 C T 0.0 rs DP=362;TI=NM_004440.3;GI=EPHA7;FC=Synonymous;PC=A327=;DC=c.981G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.450:199,163:198/164:108/91,90/73:1:0.0 chr6 106099497 rs811925 C G 0.0 Benign DP=1661;TI=NM_001198.3;GI=PRDM1;FC=Missense;PC=D203E;DC=c.609C>G;LO=EXON;EXON=4;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.489:847,812:782/879:401/446,380/432:1:0.0 chr6 108561444 . TCGG T 0.0 lowQ DP=1750;TI=NM_001455.3;GI=FOXO3;FC=CODON_DELETION;PC=G84del;DC=c.249_251delCGG;LO=EXON;EXON=1;oriDC=c.237_239delCGG;oriPC=G80del GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1729,21:896/854:884/845,12/9:2:NA chr6 108663764 . T C 0.0 lowQ;FP DP=2512;TI=NM_001455.3;GI=FOXO3;FC=Missense;PC=S311P;DC=c.931T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:2482,30:1236/1276:1219/1263,17/13:4:0.1 chr6 108663973 . T TG 0.0 lowQ;Benign DP=2477;TI=NM_001455.3;GI=FOXO3;FC=Frameshift;PC=L382fs;DC=c.1143dupG;LO=EXON;EXON=2;oriDC=c.1141dupG;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.047:2360,117:1230/1247:1171/1189,59/58:1:NA chr6 112061110 rs1230345 G T 0.0 rs DP=810;TI=NM_198239.1;GI=WISP3;FC=Missense;PC=Q74H;DC=c.222G>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.440:452,356:424/386:233/219,190/166:2:0.0 chr6 112061260 . G A 0.0 lowQ DP=580;TI=NM_198239.1;GI=WISP3;FC=Synonymous;PC=R124=;DC=c.372G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:573,7:273/307:269/304,4/3:2:0.2 chr6 112068230 . G GA 0.0 R8.1;lowQ DP=236;TI=NM_198239.1;GI=WISP3;FC=Frameshift;PC=C227fs;DC=c.678dupA;LO=EXON;EXON=4;oriDC=c.670dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.034:223,8:148/88:139/84,5/3:0:NA chr6 112068230 . GA G 0.0 R8.1;lowQ DP=236;TI=NM_198239.1;GI=WISP3;FC=Frameshift;PC=K226fs;DC=c.678delA;LO=EXON;EXON=4;oriDC=c.670delA GT:VF:AD:SB:SA:SP:SO 0/1:0.021:223,5:148/88:139/84,4/1:4:NA chr6 112069359 . C T 0.0 lowQ DP=286;TI=NM_198239.1;GI=WISP3;FC=Synonymous;PC=C286=;DC=c.858C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:283,3:163/123:161/122,2/1:1:0.2 chr6 117321273 . G T 0.0 lowQ DP=322;TI=NM_002944.2;GI=ROS1;FC=Synonymous;PC=A1921=;DC=c.5763C>A;LO=EXON;EXON=35 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:318,4:169/153:167/151,2/2:0:0.0 chr6 117321385 . C A 0.0 lowQ DP=229;TI=NM_002944.2;GI=ROS1;FC=Missense;PC=R1884I;DC=c.5651G>T;LO=EXON;EXON=35 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:226,3:107/122:106/120,1/2:2:0.2 chr6 117337323 . A G 0.0 . DP=773;TI=NM_002944.2;GI=ROS1;FC=Synonymous;PC=F1699=;DC=c.5097T>C;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.408:458,315:366/407:217/241,149/166:0:0.0 chr6 117356920 rs2243384 A G 0.0 . DP=959;TI=NM_002944.2;GI=ROS1;FC=Silent;DC=c.3855-5T>C;LO=INTRON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.466:512,447:419/540:223/289,196/251:0:0.0 chr6 117362658 rs2229079 G A 0.0 Benign DP=1273;TI=NM_002944.2;GI=ROS1;FC=Missense;PC=S1109L;DC=c.3326C>T;LO=EXON;EXON=21;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.485:654,617:669/604:337/317,331/286:3:0.0 chr6 117404285 rs1998206 T G 0.0 Benign DP=2445;TI=NM_002944.2;GI=ROS1;FC=Missense;PC=T145P;DC=c.433A>C;LO=EXON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.479:1272,1171:1288/1157:673/599,614/557:1:0.0 chr6 117404415 rs2243378 T A 0.0 . DP=2198;TI=NM_002944.2;GI=ROS1;FC=Synonymous;PC=L101=;DC=c.303A>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.485:1132,1066:989/1209:507/625,482/584:1:0.0 chr6 117563398 . G GA 0.0 R8.1;lowQ;NC DP=668;TI=NM_020399.3;GI=GOPC;FC=Noncoding;DC=c.1259-15dupT;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:649,17:324/344:315/334,8/9:0:NA chr6 117566908 . C T 0.0 lowQ DP=396;TI=NM_020399.3;GI=GOPC;FC=Missense;PC=G402S;DC=c.1204G>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:392,4:217/179:215/177,2/2:1:0.1 chr6 117566938 . G A 0.0 lowQ DP=461;TI=NM_020399.3;GI=GOPC;FC=Missense;PC=R392C;DC=c.1174C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:455,6:248/213:245/210,3/3:1:0.1 chr6 117566969 . T G 0.0 lowQ DP=469;TI=NM_020399.3;GI=GOPC;FC=Synonymous;PC=V381=;DC=c.1143A>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:462,7:243/226:240/222,3/4:2:0.2 chr6 117570969 . A G 0.0 lowQ DP=382;TI=NM_020399.3;GI=GOPC;FC=Silent;DC=c.817-14T>C;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:378,4:173/209:171/207,2/2:1:0.1 chr6 117573501 . T C 0.0 lowQ DP=396;TI=NM_020399.3;GI=GOPC;FC=Missense;PC=D261G;DC=c.782A>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:392,4:206/190:204/188,2/2:0:0.0 chr6 127155371 rs1892172 G A 0.0 rs DP=594;TI=NM_032784.4;GI=RSPO3;FC=Synonymous;PC=L189=;DC=c.567G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.436:335,259:290/304:164/171,126/133:0:0.0 chr6 134173570 . G GA 0.0 sb;R8.1;lowQ;NC DP=102;TI=NM_005627.3;GI=SGK1;FC=Noncoding;DC=c.229-5dupT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:86,3:55/47:44/42,3/0:20:NA chr6 134173570 . G GAA 0.0 R8.1;lowQ;NC DP=102;TI=NM_005627.3;GI=SGK1;FC=Noncoding;DC=c.229-6_229-5dupTT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:86,3:55/47:44/42,3/0:10:NA chr6 134173570 . GA G 0.0 R8.1;NC DP=102;TI=NM_005627.3;GI=SGK1;FC=Noncoding;DC=c.229-5delT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.088:86,9:55/47:44/42,4/5:2:NA chr6 135190158 . A T 0.0 RV DP=511;TI=NM_005375.3;GI=MYB;FC=Missense;PC=K113I;DC=c.338A>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.055:483,28:280/231:262/221,18/10:5:0.2 chr6 137198101 rs1887415 A G 0.0 rs DP=282;TI=NM_000416.2;GI=IFNGR1;FC=Missense;PC=L467P;DC=c.1400T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.443:157,125:147/135:82/75,65/60:0:0.0 chr6 137198526 . C T 0.0 lowQ DP=350;TI=NM_000416.2;GI=IFNGR1;FC=Synonymous;PC=P325=;DC=c.975G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:346,4:172/178:170/176,2/2:0:0.0 chr6 137203506 . A G 0.0 lowQ DP=278;TI=NM_000416.2;GI=IFNGR1;FC=Synonymous;PC=S242=;DC=c.726T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:275,3:147/131:145/130,2/1:2:0.3 chr6 137219233 rs7749390 A G 0.0 rs DP=763;TI=NM_000416.2;GI=IFNGR1;FC=Silent;DC=c.85+10T>C;LO=INTRON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.452:418,345:395/368:211/207,184/161:4:0.0 chr6 137874929 rs2230926 T G 0.0 Benign DP=2682;TI=NM_001270507.1;GI=TNFAIP3;FC=Missense;PC=F127C;DC=c.380T>G;LO=EXON;EXON=3;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.526:1270,1411:1424/1258:668/602,755/656:2:0.0 chr6 138882709 . C A 0.0 lowQ DP=256;TI=NM_001077706.2;GI=ECT2L;FC=Silent;DC=c.1881-15C>A;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:252,4:139/117:137/115,2/2:1:0.1 chr6 151807942 rs2077647 T C 0.0 . DP=6642;TI=NM_001122742.1;GI=ESR1;FC=Synonymous;PC=S10=;DC=c.30T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.499:3325,3315:3456/3186:1727/1598,1728/1587:1:0.0 chr6 151880740 rs4986934 T C 0.0 . DP=3607;TI=NM_001122742.1;GI=ESR1;FC=Synonymous;PC=R243=;DC=c.729T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,3605:1699/1908:0/0,1698/1907:0:INF chr6 152061009 . A C 0.0 lowQ DP=596;TI=NM_001122742.1;GI=ESR1;FC=Synonymous;PC=V418=;DC=c.1254A>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:589,6:348/248:344/245,4/2:2:0.2 chr6 156778031 . GTCC G 0.0 lowQ;Benign DP=1601;TI=NM_020732.3;GI=ARID1B;FC=CODON_DELETION;PC=S41del;DC=c.121_123delTCC;LO=EXON;EXON=1;oriDC=c.103_105delTCC;oriPC=S35del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.042:1532,67:798/803:766/766,32/35:1:NA chr6 156778198 . CCCA C 0.0 lowQ;Benign DP=2021;TI=NM_020732.3;GI=ARID1B;FC=CODON_DELETION;PC=H96del;DC=c.285_287delCCA;LO=EXON;EXON=1;oriDC=c.270_272delCCA;oriPC=H91del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.028:1950,57:1151/863:1112/838,35/22:3:NA chr6 156778737 . TCCG T 0.0 lowQ DP=951;TI=NM_020732.3;GI=ARID1B;FC=CODON_DELETION;PC=A274del;DC=c.821_823delCCG;LO=EXON;EXON=1;oriDC=c.809_811delCCG;oriPC=A271del GT:VF:AD:SB:SA:SP:SO 0/1:0.012:940,11:373/578:368/572,5/6:2:NA chr6 156778756 . C G 0.0 lowQ DP=1002;TI=NM_020732.3;GI=ARID1B;FC=Missense;PC=A276G;DC=c.827C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:988,13:443/559:435/553,8/5:7:0.3 chr6 156778764 . A G 0.0 lowQ DP=899;TI=NM_020732.3;GI=ARID1B;FC=Missense;PC=S279G;DC=c.835A>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:887,12:366/533:359/528,7/5:7:0.3 chr6 156778847 . GGGC G 0.0 lowQ;Benign DP=702;TI=NM_020732.3;GI=ARID1B;FC=CODON_DELETION;PC=G315del;DC=c.942_944delCGG;LO=EXON;EXON=1;oriDC=c.919_921delGGC;oriPC=G307del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.028:680,20:430/272:416/264,13/7:1:NA chr6 156778871 . C A 0.0 lowQ DP=787;TI=NM_020732.3;GI=ARID1B;FC=Synonymous;PC=G314=;DC=c.942C>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:769,16:476/310:466/303,10/6:1:0.0 chr6 156778889 . CGGA C 0.0 lowQ;Benign DP=984;TI=NM_020732.3;GI=ARID1B;FC=CODON_DELETION;PC=G328del;DC=c.983_985delGAG;LO=EXON;EXON=1;oriDC=c.961_963delGGA;oriPC=G321del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.034:938,33:582/402:551/387,21/12:2:NA chr6 156779296 . AGGC A 0.0 lowQ;Benign DP=333;TI=NM_020732.3;GI=ARID1B;FC=CODON_DELETION;PC=A460del;DC=c.1379_1381delCGG;LO=EXON;EXON=1;oriDC=c.1368_1370delGGC;oriPC=A457del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.018:327,6:205/128:201/126,4/2:1:NA chr6 156935454 rs541477699 G GT 0.0 R8.1;lowQ;NC;rs DP=399;TI=NM_020732.3;GI=ARID1B;FC=Noncoding;DC=c.1927-3dupT;LO=INTRON;EXON=5;oriDC=c.1927-11dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.018:383,7:219/180:211/172,3/4:3:NA chr6 156935454 . GT G 0.0 R8.1;lowQ;NC DP=399;TI=NM_020732.3;GI=ARID1B;FC=Noncoding;DC=c.1927-3delT;LO=INTRON;EXON=5;oriDC=c.1927-11delT GT:VF:AD:SB:SA:SP:SO 0/1:0.015:383,6:219/180:211/172,3/3:1:NA chr6 157084796 rs3734441 G A 0.0 rs DP=2181;TI=NM_020732.3;GI=ARID1B;FC=Synonymous;PC=A724=;DC=c.2172G>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.451:1198,983:1043/1138:590/608,453/530:9:0.1 chr6 157206363 . A T 0.0 lowQ DP=2128;TI=NM_020732.3;GI=ARID1B;FC=Missense;PC=D1741V;DC=c.5222A>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.048:2025,103:1097/1031:1036/989,61/42:10:0.1 chr6 158767428 . C G 0.0 sb.s;lowQ DP=984;TI=NM_003379.4;GI=EZR;FC=Missense;PC=V477L;DC=c.1429G>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.044:941,43:812/172:812/129,0/43:200:INF chr6 158767438 . T G 0.0 sb.s;lowQ DP=1130;TI=NM_003379.4;GI=EZR;FC=Synonymous;PC=P473=;DC=c.1419A>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.036:1084,41:817/312:814/270,0/41:200:INF chr6 158770756 rs3212308 C T 0.0 rs DP=1747;TI=NM_003379.4;GI=EZR;FC=Silent;DC=c.1090+8G>A;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.451:959,788:1002/745:548/411,454/334:1:0.0 chr6 158784636 rs3103003 G A 0.0 rs DP=478;TI=NM_003379.4;GI=EZR;FC=Silent;DC=c.551+8C>T;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.385:294,184:256/222:156/138,100/84:1:0.0 chr6 158787209 . TGA T 0.0 lowQ;NC DP=635;TI=NM_003379.4;GI=EZR;FC=Noncoding;DC=c.97-8_97-7delTC;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.035:609,22:292/343:279/330,11/11:2:NA chr6 162201165 rs1801474 C T 0.0 rs DP=456;TI=NM_004562.2;GI=PRKN;FC=Missense;PC=S167N;DC=c.500G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.511:223,233:229/227:111/112,118/115:1:0.0 chr6 162262768 . G T 0.0 sb.s;lowQ DP=403;TI=NM_004562.2;GI=PRKN;FC=Silent;DC=c.172-3C>A;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.035:389,14:227/176:227/162,0/14:48:INF chr6 163566750 . G A 0.0 lowQ DP=482;TI=NM_006775.2;GI=QKI;FC=Missense;PC=D322N;DC=c.964G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:477,5:237/245:235/242,2/3:2:0.2 chr6 166158447 rs35819705 C T 0.0 rs DP=2655;TI=NM_003181.3;GI=TBXT;FC=Synonymous;PC=A392=;DC=c.1176G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.470:1406,1249:1291/1364:681/725,610/639:1:0.0 chr6 166164677 . G GA 0.0 R8.1;lowQ;NC DP=263;TI=NM_003181.3;GI=TBXT;FC=Noncoding;DC=c.669-12dupT;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.038:240,10:144/119:132/108,5/5:1:NA chr6 166164677 rs370877435 GA G 0.0 R8.1;lowQ;NC;rs DP=263;TI=NM_003181.3;GI=TBXT;FC=Noncoding;DC=c.669-12delT;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.049:240,13:144/119:132/108,7/6:0:NA chr6 166165782 rs2305089 C T 0.0 rs DP=1593;TI=NM_003181.3;GI=TBXT;FC=Missense;PC=G177D;DC=c.530G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1593:731/862:0/0,731/862:0:INF chr6 166166700 rs1056048 G A 0.0 rs DP=2325;TI=NM_003181.3;GI=TBXT;FC=Synonymous;PC=S121=;DC=c.363C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.478:1213,1111:1198/1127:630/583,567/544:2:0.0 chr6 167003722 . G C 0.0 lowQ DP=327;TI=NM_194429.2;GI=FGFR1OP;FC=Splicing;DC=c.212-1G>C;LO=SPLICING;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:322,5:169/158:166/156,3/2:2:0.1 chr6 167039983 . G A 0.0 lowQ DP=218;TI=NM_194429.2;GI=FGFR1OP;FC=Silent;DC=c.*5G>A;LO=3UTR;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:215,3:104/114:102/113,2/1:3:0.3 chr6 167864557 . G T 0.0 lowQ DP=287;TI=NM_001040000.2;GI=AFDN;FC=Nonsense;PC=E38*;DC=c.112G>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:284,3:151/136:149/135,2/1:2:0.3 chr6 167890962 . T C 0.0 lowQ DP=651;TI=NM_001040000.2;GI=AFDN;FC=Synonymous;PC=A370=;DC=c.1110T>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:636,12:301/347:295/341,6/6:1:0.1 chr6 167911372 . G T 0.0 lowQ DP=306;TI=NM_001040000.2;GI=AFDN;FC=Missense;PC=M640I;DC=c.1920G>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:302,4:143/163:140/162,3/1:6:0.5 chr6 167914243 . G C 0.0 lowQ DP=366;TI=NM_001040000.2;GI=AFDN;FC=Missense;PC=D705H;DC=c.2113G>C;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:362,4:184/182:182/180,2/2:0:0.0 chr6 167915298 rs3213590 G C 0.0 rs DP=1733;TI=NM_001040000.2;GI=AFDN;FC=Synonymous;PC=V803=;DC=c.2409G>C;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:876,857:891/842:442/434,449/408:4:0.0 chr6 167915438 rs3213591 T G 0.0 rs DP=1342;TI=NM_001040000.2;GI=AFDN;FC=Silent;DC=c.2544+5T>G;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.482:695,647:581/761:298/397,283/364:1:0.0 chr6 167917136 rs6906754 A C 0.0 rs DP=279;TI=NM_001040000.2;GI=AFDN;FC=Synonymous;PC=P864=;DC=c.2592A>C;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.520:134,145:153/126:74/60,79/66:0:0.0 chr6 167943158 rs1132306 T C 0.0 rs DP=826;TI=NM_001040000.2;GI=AFDN;FC=Synonymous;PC=Y1036=;DC=c.3108T>C;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.504:410,416:408/418:204/206,204/212:1:0.0 chr6 167943163 . A C 0.0 lowQ DP=854;TI=NM_001040000.2;GI=AFDN;FC=Missense;PC=K1038T;DC=c.3113A>C;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:842,12:429/425:422/420,7/5:2:0.1 chr6 167946892 . A G 0.0 lowQ DP=713;TI=NM_001040000.2;GI=AFDN;FC=Missense;PC=N1175D;DC=c.3523A>G;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:700,13:331/382:325/375,6/7:0:0.0 chr6 167948338 . CA C 0.0 lowQ DP=667;TI=NM_001040000.2;GI=AFDN;FC=Frameshift;PC=Q1224fs;DC=c.3671delA;LO=EXON;EXON=28 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:659,8:365/302:361/298,4/4:1:NA chr6 167951905 . T A 0.0 lowQ;Benign DP=1184;TI=NM_001040000.2;GI=AFDN;FC=Missense;PC=S1510R;DC=c.4530T>A;LO=EXON;EXON=29;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.021:1159,25:587/597:573/586,14/11:3:0.1 chr7 2912190 rs2301921 A G 0.0 . DP=7843;TI=NM_032415.5;GI=CARD11;FC=Synonymous;PC=I1042=;DC=c.3126T>C;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.503:3890,3944:4115/3728:2019/1871,2091/1853:5:0.0 chr7 2917284 rs3735123 C A 0.0 . DP=4357;TI=NM_032415.5;GI=CARD11;FC=Silent;DC=c.2703+6G>T;LO=INTRON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:2199,2158:2357/2000:1195/1004,1162/996:1:0.0 chr7 2917371 rs3735124 T C 0.0 . DP=5436;TI=NM_032415.5;GI=CARD11;FC=Synonymous;PC=P874=;DC=c.2622A>G;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.517:2624,2810:2634/2802:1267/1357,1366/1444:1:0.0 chr7 2919538 rs3735126 G A 0.0 . DP=7925;TI=NM_032415.5;GI=CARD11;FC=Synonymous;PC=L782=;DC=c.2344C>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.492:4025,3897:3782/4143:1924/2101,1856/2041:1:0.0 chr7 2922659 rs3735131 C G 0.0 . DP=5022;TI=NM_032415.5;GI=CARD11;FC=Synonymous;PC=T748=;DC=c.2244G>C;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.547:2271,2746:2637/2385:1208/1063,1427/1319:4:0.0 chr7 2924377 rs41469246 C T 0.0 . DP=7623;TI=NM_032415.5;GI=CARD11;FC=Silent;DC=c.1808-12G>A;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.473:4012,3605:3621/3999:1920/2092,1700/1905:3:0.0 chr7 5973418 . C G 0.0 FP DP=928;TI=NM_000535.6;GI=PMS2;FC=Missense;PC=G857A;DC=c.2570G>C;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.501:463,465:352/576:175/288,177/288:0:0.0 chr7 5973522 rs10000 A G 0.0 FP DP=113;TI=NM_000535.6;GI=PMS2;FC=Synonymous;PC=L822=;DC=c.2466T>C;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.531:53,60:0/113:0/53,0/60:0:INF chr7 5982995 rs1805326 C T 0.0 FP DP=1082;TI=NM_000535.6;GI=PMS2;FC=Silent;DC=c.2007-4G>A;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.473:570,512:555/527:298/272,257/255:3:0.0 chr7 5987144 rs2228006 T C 0.0 Benign DP=5979;TI=NM_000535.6;GI=PMS2;FC=Missense;PC=K541E;DC=c.1621A>G;LO=EXON;EXON=11;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.490:3049,2930:3126/2853:1598/1451,1528/1402:1:0.0 chr7 5987357 rs1805321 G A 0.0 Benign DP=5872;TI=NM_000535.6;GI=PMS2;FC=Missense;PC=P470S;DC=c.1408C>T;LO=EXON;EXON=11;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.488:3006,2864:2801/3071:1433/1573,1368/1496:0:0.0 chr7 5997349 rs1805319 G C 0.0 . DP=1055;TI=NM_000535.6;GI=PMS2;FC=Synonymous;PC=S260=;DC=c.780C>G;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.507:519,535:545/510:269/250,276/259:0:0.0 chr7 5997426 . G GA 0.0 sb;R8.1;lowQ DP=683;TI=NM_000535.6;GI=PMS2;FC=Noncoding;DC=c.706-4dupT;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.038:342,26:485/198:230/112,24/2:21:NA chr7 5997426 . GA G 0.0 R8.1 DP=683;TI=NM_000535.6;GI=PMS2;FC=Noncoding;DC=c.706-4delT;LO=INTRON;EXON=7;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.351:342,240:485/198:230/112,179/61:12:NA chr7 5997426 . GAA G 0.0 R8.1 DP=683;TI=NM_000535.6;GI=PMS2;FC=Noncoding;DC=c.706-5_706-4delTT;LO=INTRON;EXON=7;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.070:342,48:485/198:230/112,32/16:0:NA chr7 5997426 . GAAA G 0.0 R8.1;lowQ DP=683;TI=NM_000535.6;GI=PMS2;FC=Noncoding;DC=c.706-6_706-4delTTT;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:342,20:485/198:230/112,15/5:3:NA chr7 13900816 . C A 0.0 lowQ DP=221;TI=NM_004956.4;GI=ETV1;FC=Missense;PC=Q378H;DC=c.1134G>T;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:218,3:101/120:99/119,2/1:3:0.4 chr7 13939184 rs9639168 T C 0.0 rs DP=468;TI=NM_004956.4;GI=ETV1;FC=Missense;PC=S100G;DC=c.298A>G;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.455:255,213:236/232:126/129,110/103:2:0.0 chr7 13977438 . T C 0.0 lowQ DP=399;TI=NM_004956.4;GI=ETV1;FC=Missense;PC=Q75R;DC=c.224A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:395,4:203/196:201/194,2/2:0:0.0 chr7 27182842 . A AT 0.0 R8.1;lowQ DP=670;TI=NM_005523.5;GI=HOXA11;FC=Frameshift;PC=I299fs;DC=c.895dupA;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:657,11:373/297:363/294,8/3:6:NA chr7 27184547 . AGCC A 0.0 lowQ DP=1895;TI=NM_005523.5;GI=HOXA11;FC=CODON_DELETION;PC=G199del;DC=c.595_597delGGC;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:1856,37:1015/880:994/862,20/17:0:NA chr7 27199462 . AGGC A 0.0 lowQ DP=1787;TI=NM_000522.4;GI=HOXA13;FC=CODON_DELETION;PC=A205del;DC=c.613_615delGCC;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1768,19:858/929:851/917,7/12:5:NA chr7 27199654 . C G 0.0 lowQ DP=864;TI=NM_000522.4;GI=HOXA13;FC=Missense;PC=A142P;DC=c.424G>C;LO=EXON;EXON=1;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.013:853,11:403/461:398/455,5/6:0:0.0 chr7 27199679 . CGCG C 0.0 lowQ;Benign DP=848;TI=NM_000522.4;GI=HOXA13;FC=CODON_DELETION;PC=A133del;DC=c.396_398delCGC;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.017:833,14:395/452:388/445,7/7:1:NA chr7 27199703 . A C 0.0 lowQ DP=796;TI=NM_000522.4;GI=HOXA13;FC=Synonymous;PC=A125=;DC=c.375T>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:788,8:378/418:374/414,4/4:1:0.0 chr7 27199781 . T C 0.0 lowQ DP=765;TI=NM_000522.4;GI=HOXA13;FC=Synonymous;PC=P99=;DC=c.297A>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:749,15:390/375:382/367,8/7:1:0.0 chr7 27199844 . A G 0.0 lowQ DP=700;TI=NM_000522.4;GI=HOXA13;FC=Synonymous;PC=A78=;DC=c.234T>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:688,7:437/261:434/254,3/4:6:0.4 chr7 41690142 . TTTC T 0.0 lowQ DP=2311;TI=NM_002192.3;GI=INHBA;FC=CODON_DELETION;PC=K263del;DC=c.786_788delGAA;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:2269,40:1102/1208:1083/1186,19/21:0:NA chr7 50319103 . T C 0.0 lowQ DP=272;TI=NM_006060.5;GI=IKZF1;FC=Splicing;DC=c.40+2T>C;LO=SPLICING;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:268,4:130/142:128/140,2/2:0:0.0 chr7 55146655 rs2072454 C T 0.0 . DP=5228;TI=NM_005228.4;GI=EGFR;FC=Synonymous;PC=N158=;DC=c.474C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,5225:2609/2619:1/1,2607/2618:0:0.0 chr7 55146750 rs7801956 G A 0.0 . DP=3671;TI=NM_005228.4;GI=EGFR;FC=Silent;DC=c.559+10G>A;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.478:1914,1756:1630/2041:863/1051,767/989:4:0.0 chr7 55181370 rs1050171 G A 0.0 . DP=3137;TI=NM_005228.4;GI=EGFR;FC=Synonymous;PC=Q787=;DC=c.2361G>A;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.465:1678,1459:1541/1596:838/840,703/756:5:0.0 chr7 55198724 rs1140475 T C 0.0 . DP=2149;TI=NM_005228.4;GI=EGFR;FC=Synonymous;PC=T903=;DC=c.2709T>C;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2149:1158/991:0/0,1158/991:0:INF chr7 55201223 rs2293347 C T 0.0 . DP=3972;TI=NM_005228.4;GI=EGFR;FC=Synonymous;PC=D994=;DC=c.2982C>T;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.459:2148,1822:2075/1897:1112/1036,962/860:3:0.0 chr7 76048186 rs6720 C T 0.0 Benign DP=289;TI=NM_005918.3;GI=MDH2;FC=Missense;PC=A9V;DC=c.26C>T;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.554:129,160:147/142:65/64,82/78:1:0.0 chr7 76054899 . A G 0.0 lowQ DP=325;TI=NM_005918.3;GI=MDH2;FC=Missense;PC=N46D;DC=c.136A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:321,4:164/161:162/159,2/2:0:0.0 chr7 76060452 . C T 0.0 lowQ DP=262;TI=NM_005918.3;GI=MDH2;FC=Missense;PC=T170M;DC=c.509C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:259,3:124/138:123/136,1/2:2:0.3 chr7 78019354 rs13438302 G C 0.0 rs DP=1149;TI=NM_012301.3;GI=MAGI2;FC=Synonymous;PC=P1443=;DC=c.4329C>G;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.479:598,550:532/617:278/320,254/296:0:0.0 chr7 78019376 . A G 0.0 lowQ DP=1043;TI=NM_012301.3;GI=MAGI2;FC=Missense;PC=V1436A;DC=c.4307T>C;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1029,14:500/543:492/537,8/6:3:0.2 chr7 78019414 rs2960452 C G 0.0 rs DP=841;TI=NM_012301.3;GI=MAGI2;FC=Synonymous;PC=P1423=;DC=c.4269G>C;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.507:413,426:411/430:219/194,191/235:18:0.1 chr7 78019768 rs117054456 C T 0.0 rs DP=1660;TI=NM_012301.3;GI=MAGI2;FC=Synonymous;PC=Q1305=;DC=c.3915G>A;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.475:870,789:842/818:437/433,404/385:2:0.0 chr7 78127263 rs2074641 T C 0.0 rs DP=1933;TI=NM_012301.3;GI=MAGI2;FC=Synonymous;PC=L1119=;DC=c.3357A>G;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,1929:986/947:1/1,984/945:0:0.0 chr7 78127407 rs7812015 C T 0.0 rs DP=1024;TI=NM_012301.3;GI=MAGI2;FC=Synonymous;PC=S1071=;DC=c.3213G>A;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1024:416/608:0/0,416/608:0:INF chr7 78194943 . C T 0.0 lowQ DP=476;TI=NM_012301.3;GI=MAGI2;FC=Missense;PC=A734T;DC=c.2200G>A;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:471,5:246/230:244/227,2/3:2:0.2 chr7 78343928 . A C 0.0 lowQ DP=450;TI=NM_012301.3;GI=MAGI2;FC=Missense;PC=L420V;DC=c.1258T>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:444,6:211/239:208/236,3/3:1:0.1 chr7 78343930 . T C 0.0 lowQ DP=445;TI=NM_012301.3;GI=MAGI2;FC=Missense;PC=Q419R;DC=c.1256A>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:439,6:206/239:203/236,3/3:1:0.1 chr7 78489792 rs3735442 C T 0.0 rs DP=250;TI=NM_012301.3;GI=MAGI2;FC=Synonymous;PC=K338=;DC=c.1014G>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.432:142,108:125/125:71/71,54/54:0:0.0 chr7 81711485 . T C 0.0 lowQ DP=293;TI=NM_000601.5;GI=HGF;FC=Synonymous;PC=L480=;DC=c.1440A>G;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:289,4:151/142:149/140,2/2:0:0.0 chr7 81717369 rs1800793 T C 0.0 rs DP=279;TI=NM_000601.5;GI=HGF;FC=Silent;DC=c.1272-4A>G;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 1/1:0.993:2,277:126/153:1/1,125/152:0:0.1 chr7 81725891 . T C 0.0 lowQ DP=285;TI=NM_000601.5;GI=HGF;FC=Synonymous;PC=Q389=;DC=c.1167A>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:282,3:157/128:156/126,1/2:4:0.4 chr7 81743431 . G A 0.0 lowQ DP=462;TI=NM_000601.5;GI=HGF;FC=Missense;PC=P263S;DC=c.787C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:457,5:234/228:231/226,3/2:2:0.2 chr7 81752206 . G C 0.0 lowQ DP=320;TI=NM_000601.5;GI=HGF;FC=Missense;PC=P180R;DC=c.539C>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:316,4:152/168:150/166,2/2:0:0.0 chr7 81762740 . C T 0.0 lowQ DP=293;TI=NM_000601.5;GI=HGF;FC=Missense;PC=C74Y;DC=c.221G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:289,4:145/148:143/146,2/2:0:0.0 chr7 86765555 . A G 0.0 lowQ DP=397;TI=NM_000840.2;GI=GRM3;FC=Missense;PC=N137S;DC=c.410A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:393,4:195/202:193/200,2/2:0:0.0 chr7 86786671 rs2228595 C T 0.0 rs DP=2154;TI=NM_000840.2;GI=GRM3;FC=Synonymous;PC=A293=;DC=c.879C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.501:1073,1080:1106/1048:546/527,560/520:2:0.0 chr7 86850427 . T C 0.0 lowQ DP=397;TI=NM_000840.2;GI=GRM3;FC=Missense;PC=C817R;DC=c.2449T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:393,4:208/189:206/187,2/2:0:0.0 chr7 86864278 . C A 0.0 lowQ DP=279;TI=NM_000840.2;GI=GRM3;FC=Silent;DC=c.2567-4C>A;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:275,4:132/147:129/146,3/1:6:0.5 chr7 92623070 . T C 0.0 lowQ DP=211;TI=NM_001145306.1;GI=CDK6;FC=Missense;PC=S222G;DC=c.664A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:207,4:106/105:104/103,2/2:0:0.0 chr7 98881226 . G A 0.0 lowQ DP=379;TI=NM_003496.3;GI=TRRAP;FC=Missense;PC=A26T;DC=c.76G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:375,4:191/188:189/186,2/2:0:0.0 chr7 98881967 . G A 0.0 lowQ DP=271;TI=NM_003496.3;GI=TRRAP;FC=Silent;DC=c.101-8G>A;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:267,4:139/132:137/130,2/2:0:0.0 chr7 98892518 . G A 0.0 lowQ DP=133;TI=NM_003496.3;GI=TRRAP;FC=Missense;PC=R119H;DC=c.356G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:130,3:64/69:63/67,1/2:2:0.3 chr7 98893855 . C A 0.0 lowQ DP=139;TI=NM_003496.3;GI=TRRAP;FC=Missense;PC=Q142K;DC=c.424C>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:136,3:65/74:63/73,2/1:3:0.4 chr7 98895754 . CT C 0.0 lowQ;NC DP=214;TI=NM_003496.3;GI=TRRAP;FC=Noncoding;DC=c.451-3delT;LO=INTRON;EXON=7;oriDC=c.451-9delT GT:VF:AD:SB:SA:SP:SO 0/1:0.023:209,5:116/98:113/96,3/2:1:NA chr7 98910205 . A C 0.0 sb.s DP=1193;TI=NM_003496.3;GI=TRRAP;FC=Synonymous;PC=P500=;DC=c.1500A>C;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.051:1132,61:239/954:179/953,60/1:200:2.5 chr7 98961257 rs160384 G C 0.0 rs DP=1294;TI=NM_003496.3;GI=TRRAP;FC=Silent;DC=c.6415-4G>C;LO=INTRON;EXON=44 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1294:775/519:0/0,775/519:0:INF chr7 98984145 . C T 0.0 lowQ DP=489;TI=NM_003496.3;GI=TRRAP;FC=Synonymous;PC=N3000=;DC=c.9000C>T;LO=EXON;EXON=59 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:484,5:253/236:251/233,2/3:2:0.2 chr7 98984994 . G T 0.0 lowQ DP=202;TI=NM_003496.3;GI=TRRAP;FC=Missense;PC=M3088I;DC=c.9264G>T;LO=EXON;EXON=60 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:199,3:101/101:100/99,1/2:3:0.3 chr7 100813656 rs314359 T C 0.0 rs DP=390;TI=NM_004444.4;GI=EPHB4;FC=Synonymous;PC=G584=;DC=c.1752A>G;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.526:185,205:215/175:106/79,109/96:4:0.1 chr7 100818628 rs144173 A G 0.0 rs DP=1272;TI=NM_004444.4;GI=EPHB4;FC=Synonymous;PC=S438=;DC=c.1314T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.506:629,643:580/692:281/348,299/344:3:0.0 chr7 100822533 rs56173078 A G 0.0 rs DP=1474;TI=NM_004444.4;GI=EPHB4;FC=Synonymous;PC=G182=;DC=c.546T>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.480:766,708:736/738:390/376,346/362:4:0.0 chr7 101916233 rs56091128 G A 0.0 rs DP=1141;TI=NM_181552.3;GI=CUX1;FC=Silent;DC=c.141+8G>A;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.516:552,589:509/632:243/309,266/323:2:0.0 chr7 102070389 . T C 0.0 lowQ DP=380;TI=NM_181552.3;GI=CUX1;FC=Synonymous;PC=N80=;DC=c.240T>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:376,4:179/201:177/199,2/2:0:0.1 chr7 102248841 rs410825 G A 0.0 rs DP=1341;TI=NM_181552.3;GI=CUX1;FC=Synonymous;PC=P1439=;DC=c.4317G>A;LO=EXON;EXON=24 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,1340:675/666:0/1,675/665:0:INF chr7 102248852 . ACAG A 0.0 lowQ;Benign DP=1170;TI=NM_181552.3;GI=CUX1;FC=CODON_DELETION;PC=S1448del;DC=c.4342_4344delAGC;LO=EXON;EXON=24;oriDC=c.4329_4331delCAG;oriPC=S1444del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.026:1140,30:586/584:572/568,14/16:2:NA chr7 102249048 rs368214 C T 0.0 rs DP=1054;TI=NM_181552.3;GI=CUX1;FC=Silent;DC=c.*6C>T;LO=3UTR;EXON=24 GT:VF:AD:SB:SA:SP:SO 1/1:0.996:3,1050:503/551:2/1,501/549:3:0.3 chr7 105555158 . T C 0.0 lowQ DP=389;TI=NM_021930.5;GI=RINT1;FC=Synonymous;PC=F534=;DC=c.1602T>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:382,7:183/206:179/203,4/3:2:0.2 chr7 106868533 rs849389 A G 0.0 rs DP=2719;TI=NM_001282426.1;GI=PIK3CG;FC=Synonymous;PC=P324=;DC=c.972A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:6,2711:1382/1337:3/3,1378/1333:0:0.0 chr7 106868542 rs849390 T C 0.0 rs DP=2685;TI=NM_001282426.1;GI=PIK3CG;FC=Synonymous;PC=D327=;DC=c.981T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,2683:1357/1328:0/0,1356/1327:0:INF chr7 106868886 rs17847825 C A 0.0 rs DP=1049;TI=NM_001282426.1;GI=PIK3CG;FC=Missense;PC=S442Y;DC=c.1325C>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1049:493/556:0/0,493/556:0:INF chr7 106884244 rs2230460 C T 0.0 rs DP=129;TI=NM_001282426.1;GI=PIK3CG;FC=Synonymous;PC=D950=;DC=c.2850C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,129:62/67:0/0,62/67:0:INF chr7 116795714 rs41736 C T 0.0 . DP=1635;TI=NM_001127500.2;GI=MET;FC=Synonymous;PC=D1304=;DC=c.3912C>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.504:811,824:863/772:427/384,436/388:0:0.0 chr7 116795968 rs2023748 G A 0.0 . DP=1938;TI=NM_001127500.2;GI=MET;FC=Synonymous;PC=A1357=;DC=c.4071G>A;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.508:954,984:964/974:474/480,490/494:0:0.0 chr7 116796043 rs41737 G A 0.0 . DP=2211;TI=NM_001127500.2;GI=MET;FC=Synonymous;PC=P1382=;DC=c.4146G>A;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.496:1113,1096:1097/1114:560/553,536/560:3:0.0 chr7 124858948 rs6977407 A C 0.0 . DP=559;TI=NM_015450.2;GI=POT1;FC=Silent;DC=c.702+9T>G;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:0.996:0,557:315/244:0/0,314/243:0:INF chr7 124858949 rs6959712 T A 0.0 . DP=564;TI=NM_015450.2;GI=POT1;FC=Silent;DC=c.702+8A>T;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,564:319/245:0/0,319/245:0:INF chr7 129189172 . G T 0.0 . DP=3316;TI=NM_005631.4;GI=SMO;FC=Synonymous;PC=A7=;DC=c.21G>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.506:1637,1679:1863/1453:916/721,947/732:1:0.0 chr7 129189198 . GGCT G 0.0 lowQ;Benign DP=3608;TI=NM_005631.4;GI=SMO;FC=CODON_DELETION;PC=L23del;DC=c.67_69delCTG;LO=EXON;EXON=1;oriDC=c.48_50delGCT;oriPC=L17del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.036:3455,129:1971/1636:1890/1565,68/61:2:NA chr7 129206487 rs2228617 G C 0.0 . DP=7424;TI=NM_005631.4;GI=SMO;FC=Synonymous;PC=G388=;DC=c.1164G>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.509:3638,3782:3621/3803:1767/1871,1851/1931:1:0.0 chr7 137903966 . C T 0.0 lowQ DP=581;TI=NM_194071.3;GI=CREB3L2;FC=Missense;PC=E323K;DC=c.967G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:575,6:315/266:312/263,3/3:1:0.1 chr7 137913033 . G A 0.0 lowQ DP=294;TI=NM_194071.3;GI=CREB3L2;FC=Missense;PC=P181S;DC=c.541C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:290,4:153/141:151/139,2/2:0:0.0 chr7 137913070 . G C 0.0 lowQ DP=252;TI=NM_194071.3;GI=CREB3L2;FC=Synonymous;PC=S168=;DC=c.504C>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.024:246,6:119/133:116/130,3/3:1:0.0 chr7 137915944 rs273957 C T 0.0 rs DP=417;TI=NM_194071.3;GI=CREB3L2;FC=Missense;PC=V130I;DC=c.388G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,417:200/217:0/0,200/217:0:INF chr7 137928167 rs66593747 CTGG C 0.0 Benign;rs DP=1893;TI=NM_194071.3;GI=CREB3L2;FC=CODON_DELETION;PC=T100del;DC=c.299_301delCCA;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.469:1006,887:1039/854:548/458,491/396:2:NA chr7 138899094 rs7802841 C A 0.0 rs DP=456;TI=NM_001164665.1;GI=KIAA1549;FC=Synonymous;PC=P1236=;DC=c.3708G>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,456:213/243:0/0,213/243:0:INF chr7 138911255 rs16873582 G A 0.0 rs DP=210;TI=NM_001164665.1;GI=KIAA1549;FC=Synonymous;PC=S1012=;DC=c.3036C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.376:131,79:107/103:66/65,41/38:1:0.0 chr7 138911318 rs6969074 G A 0.0 rs DP=175;TI=NM_001164665.1;GI=KIAA1549;FC=Synonymous;PC=Y991=;DC=c.2973C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.411:103,72:81/94:47/56,34/38:1:0.0 chr7 138917080 rs2251220 G A 0.0 rs DP=2327;TI=NM_001164665.1;GI=KIAA1549;FC=Missense;PC=S849L;DC=c.2546C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.460:1255,1070:1116/1211:610/645,506/564:3:0.0 chr7 138981145 . GGGC G 0.0 lowQ DP=2604;TI=NM_001164665.1;GI=KIAA1549;FC=CODON_DELETION;PC=R41del;DC=c.122_124delGCC;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:2566,36:1312/1292:1295/1271,16/20:3:NA chr7 140734755 . C A 0.0 sb;lowQ DP=374;TI=NM_004333.5;GI=BRAF;FC=Nonsense;PC=E715*;DC=c.2143G>T;LO=EXON;EXON=18;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.016:368,6:187/187:187/181,0/6:19:INF chr7 140734767 . G T 0.0 sb;lowQ;Benign DP=286;TI=NM_004333.5;GI=BRAF;FC=Missense;PC=L711I;DC=c.2131C>A;LO=EXON;EXON=18;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.017:279,5:141/145:141/138,0/5:16:INF chr7 140734772 . T TA 0.0 sb.s;lowQ;Benign DP=266;TI=NM_004333.5;GI=BRAF;FC=Noncoding;DC=c.2128-3dupT;LO=INTRON;EXON=18;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.038:255,10:118/147:118/137,0/10:24:NA chr7 140734774 . C A 0.0 sb.s DP=245;TI=NM_004333.5;GI=BRAF;FC=Silent;DC=c.2128-4G>T;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.061:229,15:117/127:117/112,0/15:39:INF chr7 140734774 . C CA 0.0 sb;R8.1 DP=192;TI=NM_004333.5;GI=BRAF;FC=Noncoding;DC=c.2128-5dupT;LO=INTRON;EXON=18;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.245:137,47:98/93:58/79,34/13:34:NA chr7 140734774 . C CAA 0.0 sb;R8.1;lowQ DP=192;TI=NM_004333.5;GI=BRAF;FC=Noncoding;DC=c.2128-6_2128-5dupTT;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:137,6:98/93:58/79,5/1:13:NA chr7 140749350 rs9648696 T C 0.0 . DP=1329;TI=NM_004333.5;GI=BRAF;FC=Synonymous;PC=G643=;DC=c.1929A>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.461:716,613:652/677:347/369,305/308:2:0.0 chr7 140834750 . T C 0.0 lowQ DP=1833;TI=NM_004333.5;GI=BRAF;FC=Synonymous;PC=T121=;DC=c.363A>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1810,22:887/946:877/933,9/13:3:0.1 chr7 140834754 . A T 0.0 lowQ DP=1834;TI=NM_004333.5;GI=BRAF;FC=Missense;PC=V120D;DC=c.359T>A;LO=EXON;EXON=3;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.022:1794,40:889/945:871/923,18/22:2:0.1 chr7 141739173 . C T 0.0 lowQ DP=547;TI=NM_003143.2;GI=SSBP1;FC=Nonsense;PC=R3*;DC=c.7C>T;LO=EXON;EXON=2;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.011:541,6:273/274:270/271,3/3:0:0.0 chr7 148828811 . T A 0.0 lowQ DP=1888;TI=NM_004456.4;GI=EZH2;FC=Missense;PC=D185V;DC=c.554A>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:1853,35:921/967:906/947,15/20:3:0.1 chr7 148846601 . T TA 0.0 R8.1;lowQ DP=966;TI=NM_004456.4;GI=EZH2;FC=Noncoding;DC=c.118-4dupT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:497,24:450/516:237/260,11/13:1:NA chr7 148846601 rs3214332 TA T 0.0 R8.1 DP=966;TI=NM_004456.4;GI=EZH2;FC=Noncoding;DC=c.118-4delT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.449:497,434:450/516:237/260,196/238:4:NA chr7 151471448 rs6956899 G A 0.0 rs DP=290;TI=NM_005614.3;GI=RHEB;FC=Silent;DC=c.333-7C>T;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.497:146,144:142/148:73/73,69/75:1:0.0 chr7 151477345 . G A 0.0 lowQ DP=363;TI=NM_005614.3;GI=RHEB;FC=Missense;PC=T88I;DC=c.263C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:359,4:181/182:179/180,2/2:0:0.0 chr7 151477423 . GA G 0.0 lowQ;NC DP=316;TI=NM_005614.3;GI=RHEB;FC=Noncoding;DC=c.193-9delT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:312,4:153/163:151/161,2/2:0:NA chr7 152162487 . T G 0.0 sb;lowQ DP=3040;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=Q3697P;DC=c.11090A>C;LO=EXON;EXON=43 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:2980,32:1524/1497:1498/1482,22/10:14:0.3 chr7 152162585 rs149510534 G T 0.0 . DP=2985;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=V3664=;DC=c.10992C>A;LO=EXON;EXON=43 GT:VF:AD:SB:SA:SP:SO 0/1:0.412:1748,1231:1453/1532:851/897,599/632:0:0.0 chr7 152163345 . T C 0.0 lowQ DP=3370;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=Q3411R;DC=c.10232A>G;LO=EXON;EXON=43;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.013:3324,44:1754/1616:1726/1598,27/17:7:0.2 chr7 152177062 . C CT 0.0 R8.1;lowQ DP=1657;TI=NM_170606.2;GI=KMT2C;FC=Frameshift;PC=E2798fs;DC=c.8390dupA;LO=EXON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.024:1576,39:826/831:785/791,19/20:0:NA chr7 152177062 . CT C 0.0 R8.1;lowQ DP=1657;TI=NM_170606.2;GI=KMT2C;FC=Frameshift;PC=K2797fs;DC=c.8390delA;LO=EXON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:1576,41:826/831:785/791,22/19:2:NA chr7 152178006 . C A 0.0 lowQ DP=359;TI=NM_170606.2;GI=KMT2C;FC=Nonsense;PC=G2483*;DC=c.7447G>T;LO=EXON;EXON=38;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.011:355,4:165/194:165/190,0/4:12:INF chr7 152178015 . T TA 0.0 sb;R8.1;lowQ DP=191;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.7443-6dupT;LO=INTRON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:134,3:106/85:81/53,0/3:15:NA chr7 152178015 . TA T 0.0 R8.1 DP=191;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.7443-6delT;LO=INTRON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.141:134,27:106/85:81/53,14/13:4:NA chr7 152178015 . TAA T 0.0 R8.1;lowQ DP=191;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.7443-7_7443-6delTT;LO=INTRON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.047:134,9:106/85:81/53,4/5:5:NA chr7 152178015 . TAAA T 0.0 R8.1 DP=191;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.7443-8_7443-6delTTT;LO=INTRON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.073:134,14:106/85:81/53,5/9:11:NA chr7 152178015 . TAAAA T 0.0 R8.1;lowQ DP=191;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.7443-9_7443-6delTTTT;LO=INTRON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:134,3:106/85:81/53,2/1:1:NA chr7 152182346 . A C 0.0 lowQ DP=2271;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=P1838=;DC=c.5514T>G;LO=EXON;EXON=36 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:2243,24:1093/1178:1075/1168,16/8:12:0.3 chr7 152185572 . T G 0.0 . DP=773;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=R1690=;DC=c.5068A>C;LO=EXON;EXON=34 GT:VF:AD:SB:SA:SP:SO 0/1:0.101:695,78:401/372:362/333,39/39:1:0.0 chr7 152194273 . T TA 0.0 R8.1;lowQ DP=152;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.4508-13dupT;LO=INTRON;EXON=30 GT:VF:AD:SB:SA:SP:SO 0/1:0.026:136,4:68/84:61/75,1/3:4:NA chr7 152194273 . TA T 0.0 R8.1 DP=152;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.4508-13delT;LO=INTRON;EXON=30 GT:VF:AD:SB:SA:SP:SO 0/1:0.079:136,12:68/84:61/75,6/6:1:NA chr7 152205196 . T G 0.0 lowQ DP=1094;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=S1291R;DC=c.3871A>C;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1081,13:533/561:527/554,6/7:1:0.0 chr7 152222074 . G GA 0.0 R8.1;lowQ DP=440;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.3434-9dupT;LO=INTRON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.048:396,21:211/229:189/207,11/10:2:NA chr7 152222074 . GA G 0.0 R8.1;lowQ DP=440;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.3434-9delT;LO=INTRON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.043:396,19:211/229:189/207,9/10:0:NA chr7 152229931 . T C 0.0 Benign;FP DP=2509;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=S990G;DC=c.2968A>G;LO=EXON;EXON=18;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.140:2157,352:1349/1160:1156/1001,193/159:2:0.0 chr7 152229936 . C A 0.0 FP DP=2565;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=C988F;DC=c.2963G>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.536:1189,1376:1381/1184:648/541,733/643:3:0.0 chr7 152229941 . T C 0.0 FP DP=2623;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=P986=;DC=c.2958A>G;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.527:1240,1383:1382/1241:662/578,720/663:3:0.0 chr7 152230042 . A G 0.0 sb;FP DP=1326;TI=NM_170606.2;GI=KMT2C;FC=Silent;DC=c.2872-15T>C;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.426:761,565:564/762:354/407,210/355:32:0.2 chr7 152235812 . C A 0.0 FP DP=2960;TI=NM_170606.2;GI=KMT2C;FC=Silent;DC=c.2769+5G>T;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.154:2502,456:1587/1373:1356/1146,230/226:9:0.1 chr7 152235823 . T C 0.0 sb;lowQ;FP DP=3181;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=L921=;DC=c.2763A>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:3094,87:1674/1507:1660/1434,14/73:113:0.8 chr7 152235860 . C T 0.0 sb;lowQ;FP DP=3902;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=R909K;DC=c.2726G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.033:3772,130:1975/1927:1934/1838,41/89:50:0.4 chr7 152235880 . C T 0.0 sb;lowQ;FP DP=3917;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=S902=;DC=c.2706G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.028:3807,109:1973/1944:1931/1876,41/68:22:0.2 chr7 152238746 . G A 0.0 lowQ;FP DP=1484;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=P871=;DC=c.2613C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:1442,40:756/728:737/705,18/22:4:0.1 chr7 152238768 . T C 0.0 sb;FP DP=1455;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=E864G;DC=c.2591A>G;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.079:1339,115:715/740:678/661,36/79:42:0.4 chr7 152247986 . G GT 0.0 FP DP=2947;TI=NM_170606.2;GI=KMT2C;FC=Frameshift;PC=Y816fs;DC=c.2447dupA;LO=EXON;EXON=14;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.449:1625,1322:1521/1426:853/772,668/654:5:NA chr7 152248016 . G C 0.0 FP DP=3095;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=S806=;DC=c.2418C>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.081:2843,252:1570/1525:1444/1399,126/126:1:0.0 chr7 152248119 . G A 0.0 sb.s;FP DP=2046;sb;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=S772L;DC=c.2315C>T;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.099:1844,202:954/1092:923/921,31/171:200:0.7 chr7 152248130 . T C 0.0 sb.s;FP DP=2029;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=S768=;DC=c.2304A>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.067:1892,136:939/1090:939/953,0/136:200:INF chr7 152248143 . G A 0.0 sb.s;lowQ;FP DP=1987;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=S764F;DC=c.2291C>T;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:1926,61:927/1060:926/1000,1/60:121:1.7 chr7 152265049 . G T 0.0 FP DP=3899;TI=NM_170606.2;GI=KMT2C;FC=Nonsense;PC=C391*;DC=c.1173C>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.093:3535,362:2145/1754:1948/1587,196/166:1:0.0 chr7 152265083 . C A 0.0 FP DP=5172;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=R380L;DC=c.1139G>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.105:4626,544:2648/2524:2371/2255,276/268:1:0.0 chr7 152265091 . T A 0.0 FP DP=5365;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=P377=;DC=c.1131A>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.198:4302,1063:2719/2646:2181/2121,538/525:0:0.0 chr7 152265172 . C T 0.0 lowQ;FP DP=3409;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=P350=;DC=c.1050G>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.048:3243,163:1515/1894:1447/1796,67/96:4:0.1 chr7 152265180 . C T 0.0 lowQ;FP DP=3032;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=D348N;DC=c.1042G>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.045:2892,136:1342/1690:1283/1609,57/79:2:0.0 chr7 152265184 . C T 0.0 FP DP=2782;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=V346=;DC=c.1038G>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.078:2566,216:1213/1569:1123/1443,90/126:3:0.0 chr7 152265209 . G A 0.0 sb;lowQ;FP DP=1670;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=S338L;DC=c.1013C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.043:1598,72:643/1027:624/974,19/53:15:0.3 chr7 152265211 . T C 0.0 lowQ;FP DP=1525;TI=NM_170606.2;GI=KMT2C;FC=Splicing;DC=c.1013-2A>G;LO=SPLICING;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.036:1470,55:575/950:560/910,15/40:10:0.2 chr7 152265224 . G A 0.0 sb.s DP=1124;TI=NM_170606.2;GI=KMT2C;FC=Silent;DC=c.1013-15C>T;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.228:865,256:402/721:387/478,14/242:200:1.1 chr7 152273712 . A T 0.0 FP DP=2554;TI=NM_170606.2;GI=KMT2C;FC=Synonymous;PC=P335=;DC=c.1005T>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.062:2396,158:1341/1213:1260/1136,81/77:1:0.0 chr7 152273771 . T A 0.0 sb;FP DP=2263;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=T316S;DC=c.946A>T;LO=EXON;EXON=7;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.401:1355,908:1114/1149:694/661,420/488:17:0.1 chr7 152273774 . C T 0.0 FP DP=2238;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=G315S;DC=c.943G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.074:2072,166:1103/1135:1025/1047,78/88:3:0.0 chr7 152273846 rs56850341 G A 0.0 sb.s;lowQ;FP DP=1250;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=L291F;DC=c.871C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:1207,40:579/671:578/629,0/40:86:INF chr7 152358587 . C G 0.0 lowQ DP=761;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=E84Q;DC=c.250G>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:749,10:388/373:382/367,5/5:0:0.0 chr7 152358673 . G C 0.0 lowQ DP=636;TI=NM_170606.2;GI=KMT2C;FC=Missense;PC=P55R;DC=c.164C>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:627,9:318/318:315/312,3/6:5:0.3 chr7 152358681 . G GA 0.0 R8.1 DP=387;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.162-7dupT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.080:320,31:259/128:208/112,24/7:8:NA chr7 152358681 . G GAA 0.0 R8.1;lowQ DP=387;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.162-8_162-7dupTT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:320,7:259/128:208/112,7/0:13:NA chr7 152358681 . GA G 0.0 R8.1 DP=387;TI=NM_170606.2;GI=KMT2C;FC=Noncoding;DC=c.162-7delT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.067:320,26:259/128:208/112,18/8:2:NA chr7 152649134 . CA C 0.0 lowQ DP=347;TI=NM_005431.1;GI=XRCC2;FC=Frameshift;PC=L117fs;DC=c.350delT;LO=EXON;EXON=3;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.023:339,8:181/166:176/163,5/3:3:NA chr7 152649292 . A G 0.0 lowQ DP=392;TI=NM_005431.1;GI=XRCC2;FC=Missense;PC=C65R;DC=c.193T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:387,5:195/197:191/196,4/1:8:0.6 chr8 17937263 . A C 0.0 lowQ DP=513;TI=NM_006197.3;GI=PCM1;FC=Synonymous;PC=R76=;DC=c.226A>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:498,12:252/261:244/254,6/6:0:0.0 chr8 17938872 . AAC AGT 0.0 Benign DP=420;MergedVar=17938873/A/G,17938874/C/T;TI=NM_006197.3;GI=PCM1;FC=Missense;PC=N159S;DC=c.476_477delinsGT;LO=EXON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,419:206/213:0/0,206/213:1:INF chr8 17947202 . A G 0.0 lowQ DP=304;TI=NM_006197.3;GI=PCM1;FC=Missense;PC=Q267R;DC=c.800A>G;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:299,4:164/140:162/137,2/2:1:0.1 chr8 17953106 . T G 0.0 lowQ DP=778;TI=NM_006197.3;GI=PCM1;FC=Missense;PC=L403R;DC=c.1208T>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:768,10:388/390:383/385,5/5:0:0.0 chr8 17957406 rs208753 A G 0.0 rs DP=335;TI=NM_006197.3;GI=PCM1;FC=Missense;PC=M597V;DC=c.1789A>G;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.364:213,122:180/155:115/98,65/57:0:0.0 chr8 17962063 rs3780103 C T 0.0 rs DP=527;TI=NM_006197.3;GI=PCM1;FC=Synonymous;PC=P784=;DC=c.2352C>T;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.543:241,286:273/254:124/117,149/137:1:0.0 chr8 17969751 rs3214087 A AC 0.0 NC;rs DP=309;TI=NM_006197.3;GI=PCM1;FC=Noncoding;DC=c.3584+4dupC;LO=INTRON;EXON=22 GT:VF:AD:SB:SA:SP:SO 1/1:0.955:14,295:145/164:10/4,135/160:12:NA chr8 17972562 . T C 0.0 lowQ DP=525;TI=NM_006197.3;GI=PCM1;FC=Missense;PC=V1273A;DC=c.3818T>C;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:519,6:259/266:256/263,3/3:0:0.0 chr8 17991638 rs370429 C T 0.0 rs DP=327;TI=NM_006197.3;GI=PCM1;FC=Missense;PC=T1543I;DC=c.4628C>T;LO=EXON;EXON=28 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:165,162:162/165:83/82,79/83:1:0.0 chr8 17993537 . C T 0.0 lowQ DP=375;TI=NM_006197.3;GI=PCM1;FC=Missense;PC=T1582I;DC=c.4745C>T;LO=EXON;EXON=29 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:371,4:197/178:195/176,2/2:0:0.0 chr8 17993577 . G A 0.0 lowQ DP=398;TI=NM_006197.3;GI=PCM1;FC=Synonymous;PC=R1595=;DC=c.4785G>A;LO=EXON;EXON=29 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:394,4:213/185:211/183,2/2:1:0.1 chr8 18014026 . C G 0.0 lowQ DP=342;TI=NM_006197.3;GI=PCM1;FC=Synonymous;PC=A1858=;DC=c.5574C>G;LO=EXON;EXON=35 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:338,4:177/165:175/163,2/2:0:0.0 chr8 18014031 . G T 0.0 sb;lowQ DP=272;TI=NM_006197.3;GI=PCM1;FC=Missense;PC=S1860I;DC=c.5579G>T;LO=EXON;EXON=35 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:269,3:150/122:150/119,0/3:20:INF chr8 26370124 rs3808565 A G 0.0 . DP=1140;TI=NM_002717.3;GI=PPP2R2A;FC=Silent;DC=c.1065-10A>G;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.475:598,541:671/469:348/250,322/219:2:0.0 chr8 27420020 rs1030526 G A 0.0 rs DP=1873;TI=NM_004103.4;GI=PTK2B;FC=Synonymous;PC=T110=;DC=c.330G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.452:1026,847:870/1003:475/551,395/452:1:0.0 chr8 27436348 rs7005936 C T 0.0 rs DP=870;TI=NM_004103.4;GI=PTK2B;FC=Synonymous;PC=H447=;DC=c.1341C>T;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.468:463,407:395/475:206/257,189/218:2:0.0 chr8 27451068 rs751019 A C 0.0 rs DP=2205;TI=NM_004103.4;GI=PTK2B;FC=Missense;PC=K838T;DC=c.2513A>C;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.484:1137,1068:1061/1144:554/583,507/561:3:0.0 chr8 27454186 rs1879184 T C 0.0 rs DP=2450;TI=NM_004103.4;GI=PTK2B;FC=Synonymous;PC=T876=;DC=c.2628T>C;LO=EXON;EXON=30 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,2446:1294/1156:1/1,1292/1154:0:0.0 chr8 27454523 rs10093964 C T 0.0 rs DP=1660;TI=NM_004103.4;GI=PTK2B;FC=Silent;DC=c.2734-8C>T;LO=INTRON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.434:939,721:867/793:483/456,384/337:3:0.0 chr8 27454618 rs7007145 G A 0.0 rs DP=1625;TI=NM_004103.4;GI=PTK2B;FC=Silent;DC=c.2814+7G>A;LO=INTRON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.440:909,715:749/876:417/492,331/384:1:0.0 chr8 27458359 rs1879182 A G 0.0 rs DP=2000;TI=NM_004103.4;GI=PTK2B;FC=Synonymous;PC=A960=;DC=c.2880A>G;LO=EXON;EXON=32 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2000:1076/924:0/0,1076/924:0:INF chr8 27458383 rs1879181 A G 0.0 rs DP=2157;TI=NM_004103.4;GI=PTK2B;FC=Synonymous;PC=L968=;DC=c.2904A>G;LO=EXON;EXON=32 GT:VF:AD:SB:SA:SP:SO 1/1:0.996:2,2149:1139/1018:1/1,1134/1015:0:0.0 chr8 31064416 . C G 0.0 lowQ DP=1450;TI=NM_000553.5;GI=WRN;FC=Missense;PC=H113D;DC=c.337C>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:1427,23:704/746:696/731,8/15:7:0.3 chr8 31065041 . T C 0.0 lowQ DP=538;TI=NM_000553.5;GI=WRN;FC=Missense;PC=L161S;DC=c.482T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:532,6:240/298:237/295,3/3:1:0.1 chr8 31067041 rs1800389 C T 0.0 . DP=949;TI=NM_000553.5;GI=WRN;FC=Synonymous;PC=C171=;DC=c.513C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,949:509/440:0/0,509/440:0:INF chr8 31068277 . G A 0.0 lowQ DP=686;TI=NM_000553.5;GI=WRN;FC=Missense;PC=R225Q;DC=c.674G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:679,7:356/330:352/327,4/3:1:0.1 chr8 31080854 . A AT 0.0 R8.1;lowQ DP=477;TI=NM_000553.5;GI=WRN;FC=Noncoding;DC=c.840-3dupT;LO=INTRON;EXON=9;oriDC=c.840-12dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.019:457,9:266/211:256/201,5/4:0:NA chr8 31080854 . AT A 0.0 R8.1;lowQ DP=477;TI=NM_000553.5;GI=WRN;FC=Noncoding;DC=c.840-3delT;LO=INTRON;EXON=9;oriDC=c.840-12delT GT:VF:AD:SB:SA:SP:SO 0/1:0.023:457,11:266/211:256/201,5/6:3:NA chr8 31081188 rs1800391 G A 0.0 Benign DP=1797;TI=NM_000553.5;GI=WRN;FC=Missense;PC=M387I;DC=c.1161G>A;LO=EXON;EXON=9;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.522:859,938:878/919:430/429,448/490:5:0.0 chr8 31083724 . A C 0.0 sb;lowQ DP=1077;TI=NM_000553.5;GI=WRN;FC=Missense;PC=N432T;DC=c.1295A>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:1052,25:570/507:549/503,21/4:28:0.7 chr8 31085153 . CT C 0.0 lowQ DP=1014;TI=NM_000553.5;GI=WRN;FC=Noncoding;DC=c.1351-5delT;LO=INTRON;EXON=11;oriDC=c.1351-12delT;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.037:976,38:557/457:535/441,22/16:1:NA chr8 31085191 . A C 0.0 sb;RV DP=1686;TI=NM_000553.5;GI=WRN;FC=Missense;PC=N459T;DC=c.1376A>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.059:1586,99:890/796:827/759,62/37:14:0.2 chr8 31087860 . AAAG A 0.0 lowQ DP=1362;TI=NM_000553.5;GI=WRN;FC=CODON_DELETION;PC=E510del;DC=c.1530_1532delAGA;LO=EXON;EXON=12;oriDC=c.1517_1519delAAG;oriPC=E507del;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.016:1340,22:700/662:689/651,11/11:0:NA chr8 31100837 rs1389212709 CT C 0.0 Benign DP=1044;TI=NM_000553.5;GI=WRN;FC=Noncoding;DC=c.1982-5delT;LO=INTRON;EXON=18;oriDC=c.1982-11delT;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.997:3,1041:570/474:3/0,567/474:9:NA chr8 31124544 . A C 0.0 lowQ DP=712;TI=NM_000553.5;GI=WRN;FC=Missense;PC=N885H;DC=c.2653A>C;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:704,8:374/338:369/335,5/3:2:0.2 chr8 31141606 rs3024239 C T 0.0 . DP=1637;TI=NM_000553.5;GI=WRN;FC=Silent;DC=c.3138+6C>T;LO=INTRON;EXON=25 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1637:799/838:0/0,799/838:0:INF chr8 31143615 . TA T 0.0 lowQ DP=475;TI=NM_000553.5;GI=WRN;FC=Frameshift;PC=S1128fs;DC=c.3382delA;LO=EXON;EXON=28;oriDC=c.3376delA;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.013:469,6:232/243:229/240,3/3:0:NA chr8 31167122 rs1801196 C T 0.0 . DP=1413;TI=NM_000553.5;GI=WRN;FC=Synonymous;PC=S1361=;DC=c.4083C>T;LO=EXON;EXON=34 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1413:683/730:0/0,683/730:0:INF chr8 37698401 . C A 0.0 lowQ DP=2327;TI=NM_025069.2;GI=ZNF703;FC=Synonymous;PC=A500=;DC=c.1500C>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:2286,41:1218/1109:1199/1087,19/22:4:0.1 chr8 37698415 . GCGC G 0.0 lowQ;Benign DP=2289;TI=NM_025069.2;GI=ZNF703;FC=CODON_DELETION;PC=A514del;DC=c.1540_1542delGCC;LO=EXON;EXON=2;oriDC=c.1515_1517delCGC;oriPC=A506del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.031:2209,71:1206/1083:1166/1043,36/35:1:NA chr8 37841677 rs4976898 C G 0.0 rs DP=1159;TI=NM_032777.9;GI=ADGRA2;FC=Synonymous;PC=G1113=;DC=c.3339C>G;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:0,1157:553/604:0/0,553/604:0:INF chr8 37841998 rs7010546 C T 0.0 rs DP=1482;TI=NM_032777.9;GI=ADGRA2;FC=Synonymous;PC=G1220=;DC=c.3660C>T;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.473:781,701:707/775:380/401,327/374:4:0.0 chr8 38321148 . C T 0.0 lowQ DP=362;TI=NM_017778.2;GI=NSD3;FC=Missense;PC=R578K;DC=c.1733G>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:358,4:174/188:172/186,2/2:0:0.0 chr8 38428395 . GTCA G 0.0 lowQ DP=4456;TI=NM_023110.2;GI=FGFR1;FC=CODON_DELETION;PC=D133del;DC=c.396_398delTGA;LO=EXON;EXON=4;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.021:4345,95:2157/2299:2103/2242,47/48:1:NA chr8 41933141 . T G 0.0 sb.s DP=960;TI=NM_006766.4;GI=KAT6A;FC=Synonymous;PC=P1693=;DC=c.5079A>C;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.123:839,118:790/170:787/52,1/117:200:3.2 chr8 41933765 rs3739365 G A 0.0 rs DP=2591;TI=NM_006766.4;GI=KAT6A;FC=Synonymous;PC=S1485=;DC=c.4455C>T;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.474:1363,1228:1273/1318:672/691,601/627:1:0.0 chr8 41934800 . T G 0.0 lowQ DP=938;TI=NM_006766.4;GI=KAT6A;FC=Synonymous;PC=P1140=;DC=c.3420A>C;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:925,13:424/514:418/507,6/7:0:0.0 chr8 41934880 . G GA 0.0 lowQ;NC DP=618;TI=NM_006766.4;GI=KAT6A;FC=Noncoding;DC=c.3353-14dupT;LO=INTRON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:609,8:281/337:276/333,4/4:1:NA chr8 41940899 rs3824275 C T 0.0 rs DP=2811;TI=NM_006766.4;GI=KAT6A;FC=Synonymous;PC=P994=;DC=c.2982G>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.491:1431,1380:1497/1314:745/686,752/628:7:0.0 chr8 41940901 . GCTC G 0.0 lowQ DP=2820;TI=NM_006766.4;GI=KAT6A;FC=CODON_DELETION;PC=E993del;DC=c.2977_2979delGAG;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:2785,33:1474/1346:1456/1329,17/16:0:NA chr8 41947876 . G A 0.0 lowQ DP=495;TI=NM_006766.4;GI=KAT6A;FC=Synonymous;PC=L593=;DC=c.1777C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:488,5:248/247:245/243,2/3:2:0.2 chr8 41974823 . C A 0.0 lowQ DP=357;TI=NM_006766.4;GI=KAT6A;FC=Splicing;DC=c.1364-1G>T;LO=SPLICING;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:353,4:159/198:157/196,2/2:1:0.1 chr8 41978757 . A G 0.0 lowQ DP=456;TI=NM_006766.4;GI=KAT6A;FC=Missense;PC=C310R;DC=c.928T>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:450,6:210/246:208/242,2/4:3:0.2 chr8 41981962 . G A 0.0 lowQ DP=297;TI=NM_006766.4;GI=KAT6A;FC=Silent;DC=c.710-8C>T;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:294,3:136/161:134/160,2/1:3:0.4 chr8 42048449 . C G 0.0 lowQ DP=325;TI=NM_006766.4;GI=KAT6A;FC=Missense;PC=D177H;DC=c.529G>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:321,4:176/149:174/147,2/2:1:0.1 chr8 42048476 . G A 0.0 lowQ DP=332;TI=NM_006766.4;GI=KAT6A;FC=Missense;PC=R168W;DC=c.502C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:328,4:172/160:170/158,2/2:0:0.0 chr8 42048577 rs3824276 A G 0.0 rs DP=338;TI=NM_006766.4;GI=KAT6A;FC=Missense;PC=L134S;DC=c.401T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.497:170,168:168/170:86/84,82/86:1:0.0 chr8 42048716 . G T 0.0 lowQ DP=400;TI=NM_006766.4;GI=KAT6A;FC=Missense;PC=H88N;DC=c.262C>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:396,4:191/209:189/207,2/2:0:0.0 chr8 42950445 . C T 0.0 lowQ DP=336;TI=NM_032410.3;GI=HOOK3;FC=Missense;PC=A153V;DC=c.458C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:332,4:154/182:152/180,2/2:1:0.1 chr8 42966596 . T C 0.0 lowQ DP=453;TI=NM_032410.3;GI=HOOK3;FC=Synonymous;PC=D301=;DC=c.903T>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.035:437,16:224/229:216/221,8/8:0:0.0 chr8 42966600 . A G 0.0 lowQ DP=436;TI=NM_032410.3;GI=HOOK3;FC=Missense;PC=I303V;DC=c.907A>G;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:426,6:216/220:211/215,3/3:0:0.0 chr8 42968176 . A G 0.0 lowQ DP=416;TI=NM_032410.3;GI=HOOK3;FC=Missense;PC=N362D;DC=c.1084A>G;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:410,6:206/210:203/207,3/3:0:0.0 chr8 43013312 . CTT C 0.0 R8.1;NC DP=88;TI=NM_032410.3;GI=HOOK3;FC=Noncoding;DC=c.1945-4_1945-3delTT;LO=INTRON;EXON=21;oriDC=c.1945-16_1945-15delTT GT:VF:AD:SB:SA:SP:SO 0/1:0.125:13,11:61/27:9/4,7/4:1:NA chr8 43013312 . CTTT C 0.0 R8.1;lowQ;NC DP=88;TI=NM_032410.3;GI=HOOK3;FC=Noncoding;DC=c.1945-5_1945-3delTTT;LO=INTRON;EXON=21;oriDC=c.1945-16_1945-14delTTT GT:VF:AD:SB:SA:SP:SO 0/1:0.045:13,4:61/27:9/4,3/1:1:NA chr8 47774381 . G GA 0.0 lowQ DP=1800;TI=NM_006904.6;GI=PRKDC;FC=Noncoding;DC=c.12183-5dupT;LO=INTRON;EXON=86;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1776,19:832/967:822/954,8/11:1:NA chr8 47789059 . G GA 0.0 R8.1;lowQ DP=1061;TI=NM_006904.6;GI=PRKDC;FC=Noncoding;DC=c.10759-11dupT;LO=INTRON;EXON=76 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1032,13:560/501:544/488,7/6:0:NA chr8 47789059 . GA G 0.0 R8.1;lowQ DP=1061;TI=NM_006904.6;GI=PRKDC;FC=Noncoding;DC=c.10759-11delT;LO=INTRON;EXON=76 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:1032,16:560/501:544/488,9/7:1:NA chr8 47819513 . T TA 0.0 R8.1;Benign DP=236;TI=NM_006904.6;GI=PRKDC;FC=Noncoding;DC=c.9337-4dupT;LO=INTRON;EXON=67;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.123:170,29:126/110:90/80,18/11:4:NA chr8 47819513 . T TAA 0.0 R8.1;lowQ DP=236;TI=NM_006904.6;GI=PRKDC;FC=Noncoding;DC=c.9337-5_9337-4dupTT;LO=INTRON;EXON=67 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:170,6:126/110:90/80,3/3:1:NA chr8 47819513 . TA T 0.0 R8.1;Benign DP=236;TI=NM_006904.6;GI=PRKDC;FC=Noncoding;DC=c.9337-4delT;LO=INTRON;EXON=67;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.114:170,27:126/110:90/80,13/14:2:NA chr8 47819513 . TAA T 0.0 R8.1;lowQ DP=236;TI=NM_006904.6;GI=PRKDC;FC=Noncoding;DC=c.9337-5_9337-4delTT;LO=INTRON;EXON=67 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:170,4:126/110:90/80,2/2:0:NA chr8 47823970 . T A 0.0 lowQ DP=1694;TI=NM_006904.6;GI=PRKDC;FC=Missense;PC=D2937V;DC=c.8810A>T;LO=EXON;EXON=64 GT:VF:AD:SB:SA:SP:SO 0/1:0.044:1620,74:772/922:745/875,27/47:10:0.2 chr8 47849230 . G A 0.0 Benign DP=2531;TI=NM_006904.6;GI=PRKDC;FC=Missense;PC=L2402F;DC=c.7204C>T;LO=EXON;EXON=54;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.479:1316,1212:1370/1161:698/618,671/541:6:0.0 chr8 47933959 rs1231202 T C 0.0 . DP=1360;TI=NM_006904.6;GI=PRKDC;FC=Silent;DC=c.1623+6A>G;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,1358:752/608:1/1,751/607:0:0.1 chr8 47954349 . A AT 0.0 R8.1;lowQ DP=686;TI=NM_006904.6;GI=PRKDC;FC=Frameshift;PC=I166fs;DC=c.496dupA;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.028:647,19:369/317:348/299,10/9:0:NA chr8 47954349 rs537061158 AT A 0.0 R8.1;lowQ DP=686;TI=NM_006904.6;GI=PRKDC;FC=Frameshift;PC=I166fs;DC=c.496delA;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.028:647,19:369/317:348/299,11/8:1:NA chr8 47955957 . T TA 0.0 R8.1 DP=1387;TI=NM_006904.6;GI=PRKDC;FC=Noncoding;DC=c.325-10dupT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.430:736,597:701/686:369/367,305/292:1:NA chr8 47955957 . T TAA 0.0 R8.1;lowQ DP=1387;TI=NM_006904.6;GI=PRKDC;FC=Noncoding;DC=c.325-11_325-10dupTT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:736,26:701/686:369/367,14/12:1:NA chr8 47955957 . TA T 0.0 R8.1;lowQ DP=1387;TI=NM_006904.6;GI=PRKDC;FC=Noncoding;DC=c.325-10delT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:736,17:701/686:369/367,8/9:1:NA chr8 53979105 . G T 0.0 lowQ DP=388;TI=NM_006756.3;GI=TCEA1;FC=Missense;PC=Q249K;DC=c.745C>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:384,4:197/191:195/189,2/2:0:0.0 chr8 53988123 . G A 0.0 lowQ DP=431;TI=NM_006756.3;GI=TCEA1;FC=Nonsense;PC=R153*;DC=c.457C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:425,6:222/209:219/206,3/3:0:0.0 chr8 56010035 . A G 0.0 lowQ DP=854;TI=NM_002350.3;GI=LYN;FC=Synonymous;PC=P488=;DC=c.1464A>G;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:843,10:417/437:412/431,5/5:0:0.0 chr8 56166267 . T TC 0.0 lowQ DP=232;TI=NM_002655.2;GI=PLAG1;FC=Frameshift;PC=R494fs;DC=c.1478_1479insG;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:228,4:125/107:123/105,2/2:1:NA chr8 56167386 . C T 0.0 lowQ DP=381;TI=NM_002655.2;GI=PLAG1;FC=Synonymous;PC=T120=;DC=c.360G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:377,4:180/201:178/199,2/2:0:0.0 chr8 67952493 rs61753697 G A 0.0 rs DP=1244;TI=NM_024870.3;GI=PREX2;FC=Synonymous;PC=K33=;DC=c.99G>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.482:644,600:605/639:308/336,297/303:3:0.0 chr8 68053239 . G A 0.0 lowQ DP=456;TI=NM_024870.3;GI=PREX2;FC=Synonymous;PC=R362=;DC=c.1086G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:448,6:210/246:206/242,3/3:1:0.1 chr8 68060665 . A G 0.0 lowQ DP=265;TI=NM_024870.3;GI=PREX2;FC=Silent;DC=c.1239-14A>G;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:261,4:131/134:129/132,2/2:0:0.0 chr8 68077404 . G A 0.0 lowQ DP=269;TI=NM_024870.3;GI=PREX2;FC=Missense;PC=C526Y;DC=c.1577G>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:264,3:137/132:135/129,1/2:3:0.3 chr8 68080485 . G GT 0.0 lowQ DP=322;TI=NM_024870.3;GI=PREX2;FC=Frameshift;PC=S565fs;DC=c.1693dupT;LO=EXON;EXON=16;oriDC=c.1686dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.012:316,4:162/160:159/157,2/2:0:NA chr8 68080527 . A G 0.0 lowQ DP=344;TI=NM_024870.3;GI=PREX2;FC=Missense;PC=H576R;DC=c.1727A>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:337,7:169/175:165/172,4/3:2:0.1 chr8 68080777 . GAT GGC 0.0 . DP=290;MergedVar=68080778/A/G,68080779/T/C;TI=NM_024870.3;GI=PREX2;FC=Synonymous;PC=L607=;DC=c.1818_1819delinsGC;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,290:152/138:0/0,152/138:1:INF chr8 68083233 rs1030752 C T 0.0 rs DP=105;TI=NM_024870.3;GI=PREX2;FC=Silent;DC=c.1879-7C>T;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,105:58/47:0/0,58/47:0:INF chr8 68083398 rs1030753 A G 0.0 rs DP=216;TI=NM_024870.3;GI=PREX2;FC=Silent;DC=c.2027+10A>G;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,216:102/114:0/0,102/114:0:INF chr8 68127374 . G A 0.0 lowQ DP=389;TI=NM_024870.3;GI=PREX2;FC=Silent;DC=c.3725-4G>A;LO=INTRON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:385,4:194/195:192/193,2/2:0:0.0 chr8 68134174 rs3793379 G A 0.0 rs DP=563;TI=NM_024870.3;GI=PREX2;FC=Synonymous;PC=K1294=;DC=c.3882G>A;LO=EXON;EXON=32 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,563:275/288:0/0,275/288:0:INF chr8 68192384 rs61753704 C T 0.0 rs DP=1277;TI=NM_024870.3;GI=PREX2;FC=Missense;PC=S1488L;DC=c.4463C>T;LO=EXON;EXON=37 GT:VF:AD:SB:SA:SP:SO 0/1:0.486:656,621:707/570:369/287,338/283:3:0.0 chr8 68224636 rs940664 T A 0.0 rs DP=360;TI=NM_024870.3;GI=PREX2;FC=Silent;DC=c.4775+10T>A;LO=INTRON;EXON=39 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,360:175/185:0/0,175/185:0:INF chr8 68231354 rs2280637 A G 0.0 rs DP=462;TI=NM_024870.3;GI=PREX2;FC=Synonymous;PC=P1599=;DC=c.4797A>G;LO=EXON;EXON=40 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:1,461:239/223:1/0,238/223:0:INF chr8 70124868 . T TA 0.0 R8.1;NC DP=458;TI=NM_001321703.1;GI=NCOA2;FC=Noncoding;DC=c.3917-4dupT;LO=INTRON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.118:382,54:200/258:166/216,24/30:1:NA chr8 70124868 . T TAA 0.0 R8.1;lowQ;NC DP=458;TI=NM_001321703.1;GI=NCOA2;FC=Noncoding;DC=c.3917-5_3917-4dupTT;LO=INTRON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:382,10:200/258:166/216,4/6:1:NA chr8 70124868 . TA T 0.0 R8.1;lowQ;NC DP=458;TI=NM_001321703.1;GI=NCOA2;FC=Noncoding;DC=c.3917-4delT;LO=INTRON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.026:382,12:200/258:166/216,6/6:2:NA chr8 70159598 . C T 0.0 lowQ DP=350;TI=NM_001321703.1;GI=NCOA2;FC=Missense;PC=G344D;DC=c.1031G>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:346,4:171/179:169/177,2/2:0:0.0 chr8 70162844 . C T 0.0 lowQ DP=191;TI=NM_001321703.1;GI=NCOA2;FC=Synonymous;PC=T281=;DC=c.843G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:188,3:81/110:79/109,2/1:4:0.4 chr8 70174788 . C T 0.0 lowQ DP=330;TI=NM_001321703.1;GI=NCOA2;FC=Missense;PC=D111N;DC=c.331G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:326,4:178/152:176/150,2/2:1:0.1 chr8 70214039 . C A 0.0 sb;lowQ DP=162;TI=NM_001321703.1;GI=NCOA2;FC=Missense;PC=Q41H;DC=c.123G>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:159,3:71/91:68/91,3/0:13:INF chr8 89953700 . T TA 0.0 R8.1;lowQ DP=1564;TI=NM_002485.4;GI=NBN;FC=Noncoding;DC=c.1398-10dupT;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1524,18:761/803:743/781,8/10:1:NA chr8 89953700 . TA T 0.0 R8.1;lowQ DP=1564;TI=NM_002485.4;GI=NBN;FC=Noncoding;DC=c.1398-10delT;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:1524,22:761/803:743/781,10/12:1:NA chr8 89955483 rs709816 A G 0.0 . DP=1154;TI=NM_002485.4;GI=NBN;FC=Synonymous;PC=D399=;DC=c.1197T>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.488:589,563:568/586:294/295,273/290:2:0.0 chr8 92017281 . T A 0.0 lowQ DP=183;TI=NM_175635.2;GI=RUNX1T1;FC=Synonymous;PC=P20=;DC=c.60A>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:180,3:93/90:91/89,2/1:2:0.3 chr8 94380194 . G T 0.0 lowQ DP=236;TI=NM_012415.3;GI=RAD54B;FC=Missense;PC=S733Y;DC=c.2198C>A;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:233,3:126/110:125/108,1/2:3:0.4 chr8 94391663 . T G 0.0 lowQ DP=321;TI=NM_012415.3;GI=RAD54B;FC=Synonymous;PC=I585=;DC=c.1755A>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:315,6:156/165:153/162,3/3:0:0.0 chr8 94391740 . G T 0.0 lowQ DP=333;TI=NM_012415.3;GI=RAD54B;FC=Synonymous;PC=R560=;DC=c.1678C>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:327,6:161/172:158/169,3/3:0:0.0 chr8 94391769 . C T 0.0 lowQ DP=317;TI=NM_012415.3;GI=RAD54B;FC=Missense;PC=R550Q;DC=c.1649G>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:311,6:155/162:152/159,3/3:0:0.0 chr8 94393781 . C A 0.0 lowQ DP=331;TI=NM_012415.3;GI=RAD54B;FC=Nonsense;PC=E494*;DC=c.1480G>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:327,4:177/154:175/152,2/2:1:0.1 chr8 94399551 . A C 0.0 lowQ DP=297;TI=NM_012415.3;GI=RAD54B;FC=Missense;PC=L414R;DC=c.1241T>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:289,8:132/165:129/160,3/5:2:0.1 chr8 94404132 . G A 0.0 lowQ DP=328;TI=NM_012415.3;GI=RAD54B;FC=Nonsense;PC=R297*;DC=c.889C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:324,4:165/163:163/161,2/2:0:0.0 chr8 94407470 rs2291439 A G 0.0 rs DP=356;TI=NM_012415.3;GI=RAD54B;FC=Synonymous;PC=N250=;DC=c.750T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,356:190/166:0/0,190/166:0:INF chr8 94411323 . T TA 0.0 R8.1;lowQ;NC DP=281;TI=NM_012415.3;GI=RAD54B;FC=Noncoding;DC=c.305-9dupT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.043:261,12:125/156:116/145,6/6:2:NA chr8 94411323 rs374242057 TA T 0.0 R8.1;lowQ;NC;rs DP=281;TI=NM_012415.3;GI=RAD54B;FC=Noncoding;DC=c.305-9delT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.028:261,8:125/156:116/145,3/5:2:NA chr8 102264505 . C A 0.0 lowQ DP=262;TI=NM_015902.5;GI=UBR5;FC=Missense;PC=R2552I;DC=c.7655G>T;LO=EXON;EXON=54 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:259,3:140/122:139/120,1/2:3:0.4 chr8 102265245 . T G 0.0 lowQ DP=328;TI=NM_015902.5;GI=UBR5;FC=Missense;PC=S2486R;DC=c.7456A>C;LO=EXON;EXON=53 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:321,4:146/182:143/178,2/2:1:0.1 chr8 102275622 . T TA 0.0 R8.1;lowQ;NC DP=101;TI=NM_015902.5;GI=UBR5;FC=Noncoding;DC=c.6631-4dupT;LO=INTRON;EXON=47 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:86,3:54/47:45/41,2/1:2:NA chr8 102275622 . TA T 0.0 R8.1;NC DP=101;TI=NM_015902.5;GI=UBR5;FC=Noncoding;DC=c.6631-4delT;LO=INTRON;EXON=47 GT:VF:AD:SB:SA:SP:SO 0/1:0.119:86,12:54/47:45/41,7/5:2:NA chr8 102275623 . A C 0.0 lowQ DP=98;TI=NM_015902.5;GI=UBR5;FC=Silent;DC=c.6631-4T>G;LO=INTRON;EXON=47 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:83,3:47/39:45/38,2/1:2:0.2 chr8 102277120 . C CT 0.0 lowQ DP=651;TI=NM_015902.5;GI=UBR5;FC=Frameshift;PC=E2121fs;DC=c.6360dupA;LO=EXON;EXON=45;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.012:638,8:327/324:319/319,4/4:0:NA chr8 102278873 . T A 0.0 lowQ DP=295;TI=NM_015902.5;GI=UBR5;FC=Missense;PC=S2081C;DC=c.6241A>T;LO=EXON;EXON=44 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:292,3:158/137:156/136,2/1:2:0.2 chr8 102278908 . C T 0.0 lowQ DP=324;TI=NM_015902.5;GI=UBR5;FC=Missense;PC=R2069H;DC=c.6206G>A;LO=EXON;EXON=44 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:320,4:174/150:172/148,2/2:1:0.1 chr8 102279140 . G C 0.0 lowQ DP=323;TI=NM_015902.5;GI=UBR5;FC=Missense;PC=R2024G;DC=c.6070C>G;LO=EXON;EXON=43 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:319,4:154/169:152/167,2/2:0:0.0 chr8 102279142 . A T 0.0 lowQ DP=326;TI=NM_015902.5;GI=UBR5;FC=Missense;PC=F2023Y;DC=c.6068T>A;LO=EXON;EXON=43 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:320,4:154/172:151/169,2/2:0:0.0 chr8 102279177 . A G 0.0 lowQ DP=310;TI=NM_015902.5;GI=UBR5;FC=Synonymous;PC=S2011=;DC=c.6033T>C;LO=EXON;EXON=43 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:306,4:149/161:147/159,2/2:0:0.0 chr8 102286572 . G A 0.0 lowQ DP=476;TI=NM_015902.5;GI=UBR5;FC=Missense;PC=S1668L;DC=c.5003C>T;LO=EXON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:471,5:221/255:219/252,2/3:1:0.1 chr8 102305251 . G A 0.0 lowQ DP=284;TI=NM_015902.5;GI=UBR5;FC=Synonymous;PC=A887=;DC=c.2661C>T;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:281,3:124/160:123/158,1/2:1:0.2 chr8 102312222 . C T 0.0 lowQ DP=375;TI=NM_015902.5;GI=UBR5;FC=Synonymous;PC=P725=;DC=c.2175G>A;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:371,4:191/184:189/182,2/2:0:0.0 chr8 102313903 . T C 0.0 lowQ DP=258;TI=NM_015902.5;GI=UBR5;FC=Synonymous;PC=S636=;DC=c.1908A>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:253,5:119/139:117/136,2/3:1:0.1 chr8 102313912 . T A 0.0 lowQ DP=231;TI=NM_015902.5;GI=UBR5;FC=Synonymous;PC=R633=;DC=c.1899A>T;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:228,3:107/124:105/123,2/1:3:0.4 chr8 102314759 . C T 0.0 lowQ DP=314;TI=NM_015902.5;GI=UBR5;FC=Missense;PC=A627T;DC=c.1879G>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:310,4:159/155:157/153,2/2:0:0.0 chr8 102329212 rs33940435 TA T 0.0 R8.1;lowQ;NC;rs DP=284;TI=NM_015902.5;GI=UBR5;FC=Noncoding;DC=c.1216-13delT;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:278,4:136/148:133/145,2/2:0:NA chr8 102345396 . C G 0.0 lowQ DP=281;TI=NM_015902.5;GI=UBR5;FC=Missense;PC=V296L;DC=c.886G>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.046:268,13:153/128:144/124,9/4:6:0.3 chr8 102345430 . A T 0.0 RV DP=427;TI=NM_015902.5;GI=UBR5;FC=Synonymous;PC=R284=;DC=c.852T>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.084:391,36:233/194:211/180,22/14:4:0.1 chr8 107958139 rs601558 A G 0.0 rs DP=649;TI=NM_178565.4;GI=RSPO2;FC=Missense;PC=L186P;DC=c.557T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.471:343,306:335/314:174/169,161/145:2:0.0 chr8 107960806 . C A 0.0 lowQ DP=202;TI=NM_178565.4;GI=RSPO2;FC=Nonsense;PC=E99*;DC=c.295G>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:198,4:100/102:98/100,2/2:0:0.0 chr8 107989061 . C T 0.0 lowQ DP=287;TI=NM_178565.4;GI=RSPO2;FC=Missense;PC=C93Y;DC=c.278G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:283,4:149/138:147/136,2/2:0:0.0 chr8 116852713 . TA T 0.0 R8.1;lowQ;NC DP=90;TI=NM_006265.2;GI=RAD21;FC=Noncoding;DC=c.1162-6delT;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.033:85,3:42/48:40/45,1/2:2:NA chr8 116856226 . G T 0.0 sb;lowQ DP=343;TI=NM_006265.2;GI=RAD21;FC=Missense;PC=Q293K;DC=c.877C>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:339,4:186/157:186/153,0/4:15:INF chr8 116856291 . G T 0.0 sb.s;lowQ DP=98;TI=NM_006265.2;GI=RAD21;FC=Silent;DC=c.815-3C>A;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:95,3:73/25:73/22,0/3:26:INF chr8 116856292 . T TA 0.0 R8.1;NC DP=134;TI=NM_006265.2;GI=RAD21;FC=Noncoding;DC=c.815-5dupT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.067:91,9:69/65:50/41,2/7:12:NA chr8 116856292 . T TAA 0.0 R8.1;lowQ;NC DP=134;TI=NM_006265.2;GI=RAD21;FC=Noncoding;DC=c.815-6_815-5dupTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:91,3:69/65:50/41,2/1:2:NA chr8 116856292 . TA T 0.0 R8.1;NC DP=134;TI=NM_006265.2;GI=RAD21;FC=Noncoding;DC=c.815-5delT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.127:91,17:69/65:50/41,9/8:1:NA chr8 116856292 . TAA T 0.0 R8.1;NC DP=134;TI=NM_006265.2;GI=RAD21;FC=Noncoding;DC=c.815-6_815-5delTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.067:91,9:69/65:50/41,4/5:3:NA chr8 116856292 . TAAA T 0.0 R8.1;lowQ;NC DP=134;TI=NM_006265.2;GI=RAD21;FC=Noncoding;DC=c.815-7_815-5delTTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:91,3:69/65:50/41,1/2:3:NA chr8 117807339 rs7837891 C T 0.0 rs DP=781;TI=NM_000127.2;GI=EXT1;FC=Synonymous;PC=E587=;DC=c.1761G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.446:433,348:372/409:212/221,160/188:4:0.1 chr8 117835543 rs11546829 G A 0.0 rs DP=243;TI=NM_000127.2;GI=EXT1;FC=Synonymous;PC=C355=;DC=c.1065C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.502:121,122:113/130:61/60,52/70:7:0.1 chr8 133247931 rs2227262 G A 0.0 rs DP=1955;TI=NM_001135242.1;GI=NDRG1;FC=Silent;DC=c.756-5C>T;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.476:1024,931:937/1018:488/536,449/482:1:0.0 chr8 133250473 . C T 0.0 lowQ DP=459;TI=NM_001135242.1;GI=NDRG1;FC=Missense;PC=G222D;DC=c.665G>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:452,7:229/230:225/227,4/3:2:0.1 chr8 133280273 rs2272653 A G 0.0 rs DP=687;TI=NM_001135242.1;GI=NDRG1;FC=Silent;DC=c.64-6T>C;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.486:352,334:311/376:163/189,148/186:2:0.0 chr8 144512253 rs4925828 A G 0.0 rs DP=1459;TI=NM_004260.3;GI=RECQL4;FC=Synonymous;PC=L1043=;DC=c.3127T>C;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1458:742/717:0/0,741/717:0:INF chr8 144517130 rs2721190 A G 0.0 rs DP=1889;TI=NM_004260.3;GI=RECQL4;FC=Missense;PC=S92P;DC=c.274T>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1889:966/923:0/0,966/923:0:INF chr9 2039776 . A ACAG 0.0 lowQ;Benign DP=3417;TI=NM_003070.4;GI=SMARCA2;FC=CODON_INSERTION;PC=Q236dup;DC=c.705_707dupGCA;LO=EXON;EXON=4;oriDC=c.667_669dupCAG;oriPC=Q222dup;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.014:3088,48:1812/1604:1650/1438,24/24:2:NA chr9 2039776 . ACAG A 0.0 Benign DP=3417;TI=NM_003070.4;GI=SMARCA2;FC=CODON_DELETION;PC=Q236del;DC=c.705_707delGCA;LO=EXON;EXON=4;oriDC=c.667_669delCAG;oriPC=Q223del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.074:3088,253:1812/1604:1650/1438,125/128:7:NA chr9 2058455 . G A 0.0 lowQ DP=106;TI=NM_003070.4;GI=SMARCA2;FC=Synonymous;PC=R504=;DC=c.1512G>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.038:102,4:46/60:44/58,2/2:1:0.1 chr9 2060893 . C T 0.0 lowQ DP=82;TI=NM_003070.4;GI=SMARCA2;FC=Synonymous;PC=T533=;DC=c.1599C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.049:78,4:40/42:38/40,2/2:0:0.0 chr9 2070444 . G A 0.0 lowQ DP=144;TI=NM_003070.4;GI=SMARCA2;FC=Synonymous;PC=G573=;DC=c.1719G>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:141,3:71/73:70/71,1/2:2:0.3 chr9 2181595 . C T 0.0 lowQ DP=156;TI=NM_003070.4;GI=SMARCA2;FC=Synonymous;PC=V1426=;DC=c.4278C>T;LO=EXON;EXON=30 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:153,3:85/71:83/70,2/1:2:0.2 chr9 2191309 rs2296212 C G 0.0 Benign DP=326;TI=NM_003070.4;GI=SMARCA2;FC=Missense;PC=D1546E;DC=c.4638C>G;LO=EXON;EXON=33;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.433:185,141:171/155:96/89,75/66:1:0.0 chr9 5077491 . G T 0.0 lowQ DP=182;TI=NM_004972.3;GI=JAK2;FC=Missense;PC=D635Y;DC=c.1903G>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:179,3:90/92:89/90,1/2:2:0.3 chr9 5081780 rs2230724 G A 0.0 . DP=1197;TI=NM_004972.3;GI=JAK2;FC=Synonymous;PC=L830=;DC=c.2490G>A;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.480:622,575:603/594:318/304,285/290:2:0.0 chr9 5126453 . A AT 0.0 R8.1;lowQ DP=1208;TI=NM_004972.3;GI=JAK2;FC=Noncoding;DC=c.3291+16dupT;LO=INTRON;EXON=24;oriDC=c.3291+8dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1184,14:592/616:581/603,7/7:0:NA chr9 5557672 rs7854303 T C 0.0 Benign;rs DP=677;TI=NM_025239.3;GI=PDCD1LG2;FC=Missense;PC=F229S;DC=c.686T>C;LO=EXON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,677:324/353:0/0,324/353:0:INF chr9 5557708 rs7854413 T C 0.0 rs DP=560;TI=NM_025239.3;GI=PDCD1LG2;FC=Missense;PC=I241T;DC=c.722T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,560:263/297:0/0,263/297:0:INF chr9 8317957 . G A 0.0 lowQ DP=180;TI=NM_002839.3;GI=PTPRD;FC=Silent;DC=c.5671-15C>T;LO=INTRON;EXON=46 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:176,4:82/98:80/96,2/2:1:0.1 chr9 8331574 rs146237556 A AAACTTACCATTCTTGAACTGT 0.0 NC;rs DP=406;TI=NM_002839.3;GI=PTPRD;FC=Noncoding;DC=c.5534+7_5534+8ins21;LO=INTRON;EXON=44 GT:VF:AD:SB:SA:SP:SO 0/1:0.433:230,176:222/184:126/104,96/80:0:INF chr9 8341280 . G GA 0.0 R8.1;NC DP=95;TI=NM_002839.3;GI=PTPRD;FC=Noncoding;DC=c.4948-13dupT;LO=INTRON;EXON=41 GT:VF:AD:SB:SA:SP:SO 0/1:0.063:80,6:50/45:44/36,3/3:1:NA chr9 8341280 . GA G 0.0 R8.1;NC DP=95;TI=NM_002839.3;GI=PTPRD;FC=Noncoding;DC=c.4948-13delT;LO=INTRON;EXON=41 GT:VF:AD:SB:SA:SP:SO 0/1:0.084:80,8:50/45:44/36,3/5:5:NA chr9 8341838 . T C 0.0 lowQ DP=564;TI=NM_002839.3;GI=PTPRD;FC=Missense;PC=Q1601R;DC=c.4802A>G;LO=EXON;EXON=40;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.025:550,14:276/288:270/280,6/8:2:0.1 chr9 8389364 rs2279776 C G 0.0 rs DP=315;TI=NM_002839.3;GI=PTPRD;FC=Synonymous;PC=G1418=;DC=c.4254G>C;LO=EXON;EXON=37 GT:VF:AD:SB:SA:SP:SO 0/1:0.448:174,141:154/161:85/89,69/72:0:0.0 chr9 8436650 . G A 0.0 lowQ DP=364;TI=NM_002839.3;GI=PTPRD;FC=Missense;PC=A1343V;DC=c.4028C>T;LO=EXON;EXON=35 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:360,4:183/181:181/179,2/2:0:0.0 chr9 8436703 rs1359118 C G 0.0 rs DP=240;TI=NM_002839.3;GI=PTPRD;FC=Silent;DC=c.3989-14G>C;LO=INTRON;EXON=35 GT:VF:AD:SB:SA:SP:SO 0/1:0.454:131,109:114/126:63/68,51/58:1:0.0 chr9 8465598 rs2281747 A G 0.0 rs DP=405;TI=NM_002839.3;GI=PTPRD;FC=Synonymous;PC=A1194=;DC=c.3582T>C;LO=EXON;EXON=32 GT:VF:AD:SB:SA:SP:SO 0/1:0.459:219,186:194/211:107/112,87/99:2:0.0 chr9 8484350 . T C 0.0 lowQ DP=270;TI=NM_002839.3;GI=PTPRD;FC=Missense;PC=E1061G;DC=c.3182A>G;LO=EXON;EXON=30 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:267,3:121/149:119/148,2/1:4:0.4 chr9 8485782 . C A 0.0 lowQ DP=315;TI=NM_002839.3;GI=PTPRD;FC=Missense;PC=R1012M;DC=c.3035G>T;LO=EXON;EXON=28 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:311,4:167/148:165/146,2/2:0:0.1 chr9 8485797 . G T 0.0 lowQ DP=342;TI=NM_002839.3;GI=PTPRD;FC=Missense;PC=P1007H;DC=c.3020C>A;LO=EXON;EXON=28 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:338,4:185/157:183/155,2/2:1:0.1 chr9 8518143 rs7026388 T C 0.0 rs DP=751;TI=NM_002839.3;GI=PTPRD;FC=Synonymous;PC=A416=;DC=c.1248A>G;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.547:340,411:382/369:171/169,211/200:1:0.0 chr9 8518395 rs3763653 G A 0.0 rs DP=516;TI=NM_002839.3;GI=PTPRD;FC=Synonymous;PC=T332=;DC=c.996C>T;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.539:238,278:235/281:106/132,129/149:2:0.0 chr9 8521541 . G A 0.0 lowQ DP=349;TI=NM_002839.3;GI=PTPRD;FC=Missense;PC=R233C;DC=c.697C>T;LO=EXON;EXON=20;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.011:345,4:162/187:160/185,2/2:1:0.1 chr9 8528687 . C T 0.0 lowQ DP=365;TI=NM_002839.3;GI=PTPRD;FC=Missense;PC=A149T;DC=c.445G>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:361,4:196/169:194/167,2/2:1:0.1 chr9 20414279 . ACTG A 0.0 lowQ;Benign DP=1055;TI=NM_004529.3;GI=MLLT3;FC=CODON_DELETION;PC=S189del;DC=c.564_566delCAG;LO=EXON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.025:1026,26:683/371:666/360,16/10:1:NA chr9 20414282 . G A 0.0 lowQ DP=1095;TI=NM_004529.3;GI=MLLT3;FC=Synonymous;PC=S188=;DC=c.564C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:1052,16:670/398:661/391,9/7:2:0.1 chr9 20414378 rs1761445 A G 0.0 lowQ;rs DP=1383;TI=NM_004529.3;GI=MLLT3;FC=Synonymous;PC=S156=;DC=c.468T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1359,17:621/758:612/747,9/8:3:0.1 chr9 20414378 . ACTG A 0.0 lowQ;Benign DP=1379;TI=NM_004529.3;GI=MLLT3;FC=CODON_DELETION;PC=S156del;DC=c.465_467delCAG;LO=EXON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.033:1327,46:617/758:597/730,19/27:2:NA chr9 20448146 . T C 0.0 lowQ DP=395;TI=NM_004529.3;GI=MLLT3;FC=Missense;PC=R133G;DC=c.397A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:391,4:199/196:197/194,2/2:0:0.0 chr9 21815437 . G A 0.0 lowQ DP=206;TI=NM_002451.3;GI=MTAP;FC=Missense;PC=G13E;DC=c.38G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:202,4:101/105:99/103,2/2:0:0.0 chr9 21816759 rs7023954 G A 0.0 rs DP=173;TI=NM_002451.3;GI=MTAP;FC=Missense;PC=V56I;DC=c.166G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,173:86/87:0/0,86/87:0:INF chr9 27172733 . G C 0.0 lowQ DP=309;TI=NM_000459.4;GI=TEK;FC=Missense;PC=R249T;DC=c.746G>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:304,5:147/162:145/159,2/3:1:0.1 chr9 27183465 rs682632 A C 0.0 rs DP=200;TI=NM_000459.4;GI=TEK;FC=Missense;PC=Q346P;DC=c.1037A>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.480:104,96:105/95:54/50,51/45:1:0.0 chr9 27183590 . C T 0.0 lowQ DP=258;TI=NM_000459.4;GI=TEK;FC=Missense;PC=P388S;DC=c.1162C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:254,4:127/131:125/129,2/2:0:0.0 chr9 27183617 . G A 0.0 lowQ DP=230;TI=NM_000459.4;GI=TEK;FC=Silent;DC=c.1182+7G>A;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:227,3:112/118:111/116,1/2:2:0.3 chr9 27213496 . G T 0.0 lowQ DP=371;TI=NM_000459.4;GI=TEK;FC=Missense;PC=D964Y;DC=c.2890G>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:367,4:198/173:196/171,2/2:0:0.1 chr9 27218825 . T C 0.0 lowQ DP=300;TI=NM_000459.4;GI=TEK;FC=Silent;DC=c.3103+8T>C;LO=INTRON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:297,3:146/154:144/153,2/1:3:0.3 chr9 35074920 rs587118 T C 0.0 . DP=5085;TI=NM_004629.1;GI=FANCG;FC=Silent;DC=c.1636+7A>G;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.509:2498,2587:2774/2311:1356/1142,1418/1169:2:0.0 chr9 36840626 rs3780135 G A 0.0 rs DP=1167;TI=NM_016734.2;GI=PAX5;FC=Synonymous;PC=Y370=;DC=c.1110C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1167:574/593:0/0,574/593:0:INF chr9 36882052 . CG C 0.0 lowQ DP=747;TI=NM_016734.2;GI=PAX5;FC=Frameshift;PC=A322fs;DC=c.963delC;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:737,8:383/364:379/358,3/5:4:NA chr9 37006537 . C A 0.0 lowQ DP=247;TI=NM_016734.2;GI=PAX5;FC=Missense;PC=R137S;DC=c.411G>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:244,3:126/121:124/120,2/1:2:0.3 chr9 77728671 . G GA 0.0 R8.1 DP=788;TI=NM_002072.4;GI=GNAQ;FC=Noncoding;DC=c.736-5dupT;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.289:455,228:418/370:233/222,132/96:10:NA chr9 77728671 . G GAA 0.0 R8.1;lowQ DP=788;TI=NM_002072.4;GI=GNAQ;FC=Noncoding;DC=c.736-6_736-5dupTT;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.043:455,34:418/370:233/222,20/14:4:NA chr9 77728671 . GA G 0.0 R8.1 DP=788;TI=NM_002072.4;GI=GNAQ;FC=Noncoding;DC=c.736-5delT;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.070:455,55:418/370:233/222,26/29:2:NA chr9 77728671 . GAA G 0.0 R8.1;lowQ DP=788;TI=NM_002072.4;GI=GNAQ;FC=Noncoding;DC=c.736-6_736-5delTT;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:455,8:418/370:233/222,2/6:8:NA chr9 95125144 . G A 0.0 lowQ DP=487;TI=NM_000136.2;GI=FANCC;FC=Missense;PC=A313V;DC=c.938C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:481,6:233/254:230/251,3/3:0:0.0 chr9 95447312 rs357564 G A 0.0 Benign DP=6514;TI=NM_000264.4;GI=PTCH1;FC=Missense;PC=P1315L;DC=c.3944C>T;LO=EXON;EXON=23;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.546:2954,3556:3276/3238:1523/1431,1751/1805:12:0.0 chr9 95449902 . C T 0.0 lowQ DP=8074;TI=NM_000264.4;GI=PTCH1;FC=Missense;PC=G1163D;DC=c.3488G>A;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:7968,103:4128/3946:4071/3897,56/47:3:0.1 chr9 95456335 . C T 0.0 . DP=8293;TI=NM_000264.4;GI=PTCH1;FC=Missense;PC=V1083M;DC=c.3247G>A;LO=EXON;EXON=19;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.483:4280,4008:4208/4085:2169/2111,2037/1971:0:0.0 chr9 95508310 . TGCC T 0.0 lowQ DP=3569;TI=NM_000264.4;GI=PTCH1;FC=CODON_DELETION;PC=G17del;DC=c.49_51delGGC;LO=EXON;EXON=1;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.011:3525,41:1594/1973:1577/1948,16/25:3:NA chr9 95508364 . TGCC T 0.0 lowQ;Benign DP=2377;TI=NM_000264.4;GI=PTCH1;FC=UTR;DC=c.-6_-4delGGC;LO=5UTR;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.025:2309,60:1032/1344:1005/1304,24/36:2:NA chr9 97675590 . G GA 0.0 R8.1;lowQ;NC DP=242;TI=NM_000380.3;GI=XPA;FC=Noncoding;DC=c.674-4dupT;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:238,4:119/123:117/121,2/2:0:NA chr9 97689644 . G A 0.0 lowQ DP=157;TI=NM_000380.3;GI=XPA;FC=Silent;DC=c.284-5C>T;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:153,4:74/83:72/81,2/2:0:0.1 chr9 98844200 . C A 0.0 lowQ DP=187;TI=NM_024642.4;GI=GALNT12;FC=Synonymous;PC=G483=;DC=c.1449C>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:183,4:87/100:85/98,2/2:1:0.1 chr9 99105255 . TGGC T 0.0 lowQ;Benign DP=2031;TI=NM_004612.3;GI=TGFBR1;FC=CODON_DELETION;PC=A26del;DC=c.76_78delGCG;LO=EXON;EXON=1;oriDC=c.51_53delGGC;oriPC=A18del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.032:1950,66:1034/997:992/958,34/32:0:NA chr9 99128906 . C G 0.0 lowQ DP=337;TI=NM_004612.3;GI=TGFBR1;FC=Missense;PC=T50R;DC=c.149C>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:333,4:170/167:167/166,3/1:5:0.5 chr9 99128918 . G T 0.0 lowQ DP=343;TI=NM_004612.3;GI=TGFBR1;FC=Missense;PC=C54F;DC=c.161G>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:339,4:174/169:172/167,2/2:0:0.0 chr9 99132734 . G A 0.0 lowQ DP=266;TI=NM_004612.3;GI=TGFBR1;FC=Missense;PC=G190D;DC=c.569G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:263,3:110/156:109/154,1/2:1:0.2 chr9 99138078 . CA C 0.0 lowQ DP=426;TI=NM_004612.3;GI=TGFBR1;FC=Frameshift;PC=D266fs;DC=c.795delA;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:420,6:185/241:183/237,2/4:2:NA chr9 99146595 . G A 0.0 lowQ DP=312;TI=NM_004612.3;GI=TGFBR1;FC=Missense;PC=R414Q;DC=c.1241G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:308,4:145/167:143/165,2/2:1:0.1 chr9 99828333 . TCAC T 0.0 lowQ;Benign DP=1514;TI=NM_173200.2;GI=NR4A3;FC=CODON_DELETION;PC=H118del;DC=c.351_353delCCA;LO=EXON;EXON=4;oriDC=c.325_327delCAC;oriPC=H109del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.032:1462,49:719/795:695/767,23/26:0:NA chr9 107485941 rs45511095 G GA 0.0 R8.1;lowQ DP=2400;TI=NM_004235.5;GI=KLF4;FC=Noncoding;DC=c.1265-16dupT;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.034:2284,81:1084/1316:1034/1250,34/47:3:NA chr9 107485941 . GA G 0.0 R8.1;lowQ DP=2400;TI=NM_004235.5;GI=KLF4;FC=Noncoding;DC=c.1265-16delT;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:2284,32:1084/1316:1034/1250,14/18:1:NA chr9 128689601 . A C 0.0 sb.s;lowQ;Benign DP=2055;TI=NM_003011.3;GI=SET;FC=Missense;PC=K7Q;DC=c.19A>C;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.035:1984,71:578/1477:507/1477,71/0:200:INF chr9 128693624 rs4836618 C T 0.0 rs DP=342;TI=NM_003011.3;GI=SET;FC=Silent;DC=c.493-14C>T;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,342:186/156:0/0,186/156:0:INF chr9 128693880 . CT C 0.0 R8.1;NC DP=538;TI=NM_003011.3;GI=SET;FC=Noncoding;DC=c.664-4delT;LO=INTRON;EXON=7;oriDC=c.664-15delT GT:VF:AD:SB:SA:SP:SO 0/1:0.087:437,47:323/214:259/178,30/17:3:NA chr9 128693880 . CTT C 0.0 R8.1;lowQ;NC DP=538;TI=NM_003011.3;GI=SET;FC=Noncoding;DC=c.664-5_664-4delTT;LO=INTRON;EXON=7;oriDC=c.664-15_664-14delTT GT:VF:AD:SB:SA:SP:SO 0/1:0.011:437,6:323/214:259/178,3/3:2:NA chr9 129900507 rs1023000 C T 0.0 rs DP=2136;TI=NM_015033.2;GI=FNBP1;FC=Missense;PC=S490N;DC=c.1469G>A;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:1,2135:1089/1047:0/1,1089/1046:0:INF chr9 129908934 . T G 0.0 lowQ DP=510;TI=NM_015033.2;GI=FNBP1;FC=Missense;PC=K417N;DC=c.1251A>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:498,11:258/252:252/246,5/6:1:0.1 chr9 129923907 . A G 0.0 . DP=1553;TI=NM_015033.2;GI=FNBP1;FC=Synonymous;PC=H369=;DC=c.1107T>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1553:932/621:0/0,932/621:0:INF chr9 129924963 . AT A 0.0 lowQ DP=662;TI=NM_015033.2;GI=FNBP1;FC=Frameshift;PC=N328fs;DC=c.983delA;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:648,9:368/294:361/287,5/4:0:NA chr9 129929670 . T C 0.0 lowQ DP=789;TI=NM_015033.2;GI=FNBP1;FC=Missense;PC=H180R;DC=c.539A>G;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:768,21:383/406:374/394,9/12:2:0.1 chr9 129978561 . G A 0.0 lowQ DP=582;TI=NM_015033.2;GI=FNBP1;FC=Synonymous;PC=Y83=;DC=c.249C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:576,6:293/289:290/286,3/3:0:0.0 chr9 130884102 . CAAG C 0.0 lowQ DP=7546;TI=NM_005157.5;GI=ABL1;FC=CODON_DELETION;PC=K609del;DC=c.1826_1828delAGA;LO=EXON;EXON=11;oriDC=c.1813_1815delAAG;oriPC=K605del;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.026:7345,194:3890/3654:3784/3561,103/91:2:NA chr9 131128467 . G A 0.0 lowQ DP=352;TI=NM_005085.3;GI=NUP214;FC=Missense;PC=R126H;DC=c.377G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:348,4:149/203:147/201,2/2:1:0.1 chr9 131134998 . A G 0.0 lowQ DP=296;TI=NM_005085.3;GI=NUP214;FC=Missense;PC=E311G;DC=c.932A>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:292,4:140/156:138/154,2/2:0:0.0 chr9 131139294 . C A 0.0 sb;lowQ DP=131;TI=NM_005085.3;GI=NUP214;FC=Missense;PC=S340Y;DC=c.1019C>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:128,3:60/71:57/71,3/0:20:INF chr9 131144705 rs103612 C T 0.0 rs DP=985;TI=NM_005085.3;GI=NUP214;FC=Missense;PC=P574S;DC=c.1720C>T;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.488:504,481:436/549:222/282,214/267:1:0.0 chr9 131146243 rs2296710 A G 0.0 rs DP=1821;TI=NM_005085.3;GI=NUP214;FC=Synonymous;PC=T628=;DC=c.1884A>G;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.499:912,909:903/918:452/460,451/458:0:0.0 chr9 131151751 rs61756081 A G 0.0 Benign;rs DP=339;TI=NM_005085.3;GI=NUP214;FC=Missense;PC=I765V;DC=c.2293A>G;LO=EXON;EXON=17;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.460:183,156:181/158:95/88,86/70:3:0.1 chr9 132896600 . CGCT C 0.0 lowQ DP=7825;TI=NM_000368.4;GI=TSC1;FC=CODON_DELETION;PC=S1043del;DC=c.3127_3129delAGC;LO=EXON;EXON=23;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.020:7638,159:4020/3804:3930/3708,76/83:4:NA chr9 132897330 rs4962081 G A 0.0 . DP=1978;TI=NM_000368.4;GI=TSC1;FC=Synonymous;PC=A943=;DC=c.2829C>T;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.478:1032,946:959/1019:503/529,456/490:1:0.0 chr9 132897612 . T TTAA 0.0 sb;lowQ;Benign DP=434;TI=NM_000368.4;GI=TSC1;FC=Noncoding;DC=c.2626-3_2626-2insTTA;LO=INTRON;EXON=21;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.018:414,8:280/154:280/134,0/8:42:NA chr9 132897613 . G A 0.0 sb.s DP=387;TI=NM_000368.4;GI=TSC1;FC=Silent;DC=c.2626-3C>T;LO=INTRON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.145:329,56:275/112:275/54,0/56:200:INF chr9 132897613 . G GA 0.0 sb.s;R8.1;Benign DP=372;TI=NM_000368.4;GI=TSC1;FC=Noncoding;DC=c.2626-4dupT;LO=INTRON;EXON=21;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.091:231,34:268/104:131/100,32/2:45:NA chr9 132897613 . G GAA 0.0 sb;R8.1;Benign DP=372;TI=NM_000368.4;GI=TSC1;FC=Noncoding;DC=c.2626-5_2626-4dupTT;LO=INTRON;EXON=21;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.188:231,70:268/104:131/100,68/2:94:NA chr9 132897613 . G GAAA 0.0 sb;R8.1 DP=372;TI=NM_000368.4;GI=TSC1;FC=Noncoding;DC=c.2626-6_2626-4dupTTT;LO=INTRON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.059:231,22:268/104:131/100,22/0:41:NA chr9 132897613 . G GAAAA 0.0 sb;R8.1;lowQ DP=372;TI=NM_000368.4;GI=TSC1;FC=Noncoding;DC=c.2626-7_2626-4dupTTTT;LO=INTRON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:231,6:268/104:131/100,6/0:15:NA chr9 132897613 . GA G 0.0 R8.1;lowQ;Benign DP=372;TI=NM_000368.4;GI=TSC1;FC=Noncoding;DC=c.2626-4delT;LO=INTRON;EXON=21;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.013:231,5:268/104:131/100,5/0:13:NA chr9 134041883 rs467387 G A 0.0 rs DP=2448;TI=NM_007371.3;GI=BRD3;FC=Synonymous;PC=P428=;DC=c.1284C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,2446:1155/1293:1/1,1154/1292:0:0.0 chr9 134048233 rs464826 T C 0.0 rs DP=1938;TI=NM_007371.3;GI=BRD3;FC=Synonymous;PC=L312=;DC=c.936A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1938:995/943:0/0,995/943:0:INF chr9 134053406 . C G 0.0 sb.s DP=1473;TI=NM_007371.3;GI=BRD3;FC=Synonymous;PC=P24=;DC=c.72G>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.073:1365,108:1165/308:1165/200,0/108:200:INF chr9 134053406 . C CG 0.0 sb;lowQ DP=1467;TI=NM_007371.3;GI=BRD3;FC=Frameshift;PC=E25fs;DC=c.71dupC;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1402,19:1159/308:1105/297,19/0:16:NA chr9 134053406 . CG C 0.0 lowQ DP=1467;TI=NM_007371.3;GI=BRD3;FC=Frameshift;PC=P24fs;DC=c.71delC;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:1402,44:1159/308:1105/297,34/10:1:NA chr9 134401853 . A C 0.0 lowQ DP=411;TI=NM_002957.5;GI=RXRA;FC=Missense;PC=T84P;DC=c.250A>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:406,5:155/256:154/252,1/4:4:0.4 chr9 134401881 . A C 0.0 sb;lowQ DP=221;TI=NM_002957.5;GI=RXRA;FC=Missense;PC=Q93P;DC=c.278A>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:217,3:85/136:82/135,3/0:16:INF chr9 134408138 . G GC 0.0 lowQ DP=300;TI=NM_002957.5;GI=RXRA;FC=Noncoding;DC=c.280-3dupC;LO=INTRON;EXON=3;oriDC=c.280-10dupC;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.010:294,3:171/129:167/127,2/1:1:NA chr9 134408138 . GC G 0.0 lowQ;Benign DP=300;TI=NM_002957.5;GI=RXRA;FC=Noncoding;DC=c.280-3delC;LO=INTRON;EXON=3;oriDC=c.280-10delC;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.010:294,3:171/129:167/127,2/1:1:NA chr9 134417268 . G T 0.0 . DP=672;TI=NM_002957.5;GI=RXRA;FC=Missense;PC=A241S;DC=c.721G>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.344:441,231:307/365:197/244,110/121:3:0.1 chr9 134436509 . C T 0.0 lowQ DP=636;TI=NM_002957.5;GI=RXRA;FC=Synonymous;PC=I428=;DC=c.1284C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:628,8:338/298:334/294,4/4:1:0.1 chr9 136497184 rs2229974 G A 0.0 . DP=8252;TI=NM_017617.4;GI=NOTCH1;FC=Synonymous;PC=D2185=;DC=c.6555C>T;LO=EXON;EXON=34 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:3,8248:4083/4169:2/1,4081/4167:3:0.3 chr9 136503255 rs10521 G A 0.0 . DP=7437;TI=NM_017617.4;GI=NOTCH1;FC=Synonymous;PC=D1698=;DC=c.5094C>T;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:3752,3685:3873/3564:1958/1794,1915/1770:1:0.0 chr9 136510809 rs3125001 C T 0.0 . DP=8242;TI=NM_017617.4;GI=NOTCH1;FC=Silent;DC=c.2588-4G>A;LO=INTRON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.497:4141,4095:3822/4419:1916/2225,1903/2192:1:0.0 chr9 136515972 rs3125006 A G 0.0 . DP=7841;TI=NM_017617.4;GI=NOTCH1;FC=Silent;DC=c.1669+9T>C;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.496:3946,3889:4116/3723:2087/1859,2027/1862:3:0.0 chr9 136517745 rs9411208 G A 0.0 . DP=8294;TI=NM_017617.4;GI=NOTCH1;FC=Silent;DC=c.1441+7C>T;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.500:4146,4147:4445/3849:2226/1920,2218/1929:1:0.0 chr9 136519456 rs2229975 C T 0.0 . DP=8523;TI=NM_017617.4;GI=NOTCH1;FC=Synonymous;PC=P284=;DC=c.852G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.465:4558,3961:4363/4158:2326/2232,2036/1925:1:0.0 chr9 136523808 rs4489420 A G 0.0 . DP=9491;TI=NM_017617.4;GI=NOTCH1;FC=Synonymous;PC=N104=;DC=c.312T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.497:4776,4714:4798/4693:2419/2357,2378/2336:1:0.0 chr10 21538867 rs1802669 G A 0.0 rs DP=416;TI=NM_004641.3;GI=MLLT10;FC=Synonymous;PC=P65=;DC=c.195G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.502:207,209:205/211:99/108,106/103:3:0.1 chr10 21614886 . C G 0.0 lowQ DP=284;TI=NM_004641.3;GI=MLLT10;FC=Missense;PC=Q189E;DC=c.565C>G;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:278,4:145/139:142/136,2/2:0:0.0 chr10 21688492 . C A 0.0 lowQ DP=300;TI=NM_004641.3;GI=MLLT10;FC=Missense;PC=D567E;DC=c.1701C>A;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:296,4:151/149:149/147,2/2:0:0.0 chr10 27014515 . G T 0.0 lowQ DP=240;TI=NM_014915.2;GI=ANKRD26;FC=Missense;PC=S1568Y;DC=c.4703C>A;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:237,3:126/114:125/112,1/2:3:0.3 chr10 27014565 . T G 0.0 lowQ DP=242;TI=NM_014915.2;GI=ANKRD26;FC=Missense;PC=E1551D;DC=c.4653A>C;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:238,4:104/138:102/136,2/2:1:0.1 chr10 27014604 . G T 0.0 sb.s;lowQ DP=267;TI=NM_014915.2;GI=ANKRD26;FC=Synonymous;PC=S1538=;DC=c.4614C>A;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:259,8:104/163:96/163,8/0:35:INF chr10 27014624 . C A 0.0 sb;lowQ DP=275;TI=NM_014915.2;GI=ANKRD26;FC=Missense;PC=D1532Y;DC=c.4594G>T;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:272,3:118/157:115/157,3/0:14:INF chr10 27035066 rs41299210 C T 0.0 rs DP=455;TI=NM_014915.2;GI=ANKRD26;FC=Synonymous;PC=K1128=;DC=c.3384G>A;LO=EXON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.444:253,202:228/227:129/124,99/103:2:0.0 chr10 27038015 . A G 0.0 lowQ DP=668;TI=NM_014915.2;GI=ANKRD26;FC=Synonymous;PC=A805=;DC=c.2415T>C;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:651,17:339/329:333/318,6/11:7:0.3 chr10 27044192 . T A 0.0 lowQ DP=209;TI=NM_014915.2;GI=ANKRD26;FC=Splicing;DC=c.1986-2A>T;LO=SPLICING;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:203,4:108/99:106/97,2/2:0:0.0 chr10 27044192 . T TA 0.0 R8.1;NC DP=209;TI=NM_014915.2;GI=ANKRD26;FC=Noncoding;DC=c.1986-3dupT;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.072:162,15:108/99:86/76,7/8:2:NA chr10 27044192 rs113123391 TA T 0.0 R8.1;NC;rs DP=209;TI=NM_014915.2;GI=ANKRD26;FC=Noncoding;DC=c.1986-3delT;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.096:162,20:108/99:86/76,10/10:1:NA chr10 27044192 . TAA T 0.0 R8.1;lowQ;NC DP=209;TI=NM_014915.2;GI=ANKRD26;FC=Noncoding;DC=c.1986-4_1986-3delTT;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.048:162,10:108/99:86/76,5/5:1:NA chr10 27046466 . G C 0.0 lowQ DP=309;TI=NM_014915.2;GI=ANKRD26;FC=Synonymous;PC=T624=;DC=c.1872C>G;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:305,4:150/159:148/157,2/2:0:0.0 chr10 27048876 . CCAT C 0.0 lowQ DP=342;TI=NM_014915.2;GI=ANKRD26;FC=CODON_DELETION;PC=D579del;DC=c.1736_1738delATG;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:337,5:166/176:164/173,2/3:2:NA chr10 27066548 . T C 0.0 lowQ DP=310;TI=NM_014915.2;GI=ANKRD26;FC=Missense;PC=D403G;DC=c.1208A>G;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:306,4:144/166:142/164,2/2:1:0.1 chr10 27092420 rs2297145 T C 0.0 rs DP=203;TI=NM_014915.2;GI=ANKRD26;FC=Synonymous;PC=V208=;DC=c.624A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.488:104,99:106/97:55/49,51/48:1:0.0 chr10 27093455 . G A 0.0 lowQ DP=307;TI=NM_014915.2;GI=ANKRD26;FC=Missense;PC=A142V;DC=c.425C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:303,4:145/162:143/160,2/2:0:0.0 chr10 27100268 rs7897309 T C 0.0 rs DP=1289;TI=NM_014915.2;GI=ANKRD26;FC=Missense;PC=Q20R;DC=c.59A>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,1287:570/719:1/1,569/718:0:0.1 chr10 32023041 rs176924 A G 0.0 rs DP=572;TI=NM_004521.2;GI=KIF5B;FC=Silent;DC=c.1726-5T>C;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,572:248/324:0/0,248/324:0:INF chr10 43077301 . TTGC T 0.0 lowQ DP=3679;TI=NM_020975.5;GI=RET;FC=CODON_DELETION;PC=L19del;DC=c.56_58delTGC;LO=EXON;EXON=1;oriDC=c.44_46delTGC;oriPC=L16del;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.011:3636,41:1823/1856:1804/1832,18/23:3:NA chr10 43100520 rs1800858 A G 0.0 . DP=5836;TI=NM_020975.5;GI=RET;FC=Synonymous;PC=A45=;DC=c.135A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,5829:3220/2616:1/1,3217/2612:0:0.1 chr10 43100731 rs2435351 G A 0.0 . DP=4939;TI=NM_020975.5;GI=RET;FC=Silent;DC=c.337+9G>A;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:1,4937:2060/2879:1/0,2058/2879:0:INF chr10 43114671 rs1799939 G A 0.0 Benign DP=7505;TI=NM_020975.5;GI=RET;FC=Missense;PC=G691S;DC=c.2071G>A;LO=EXON;EXON=11;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.483:3881,3622:3620/3885:1856/2025,1763/1859:3:0.0 chr10 43118395 rs1800861 G T 0.0 . DP=4967;TI=NM_020975.5;GI=RET;FC=Synonymous;PC=L769=;DC=c.2307G>T;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,4963:2604/2363:0/0,2602/2361:0:INF chr10 43120185 rs1800863 C G 0.0 . DP=7300;TI=NM_020975.5;GI=RET;FC=Synonymous;PC=S904=;DC=c.2712C>G;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.508:3584,3711:3384/3916:1661/1923,1721/1990:0:0.0 chr10 46014558 . G GA 0.0 R8.1;lowQ;NC DP=310;TI=NM_001145263.1;GI=NCOA4;FC=Noncoding;DC=c.372-7dupT;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.035:297,11:156/154:150/147,5/6:1:NA chr10 49459059 rs2228529 T C 0.0 rs DP=1216;TI=NM_000124.3;GI=ERCC6;FC=Missense;PC=Q1413R;DC=c.4238A>G;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.574:518,698:614/602:258/260,356/342:2:0.0 chr10 49470323 rs2228527 T C 0.0 rs DP=371;TI=NM_000124.3;GI=ERCC6;FC=Missense;PC=R1213G;DC=c.3637A>G;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.482:192,179:175/196:91/101,84/95:0:0.0 chr10 49470537 . T C 0.0 lowQ DP=312;TI=NM_000124.3;GI=ERCC6;FC=Synonymous;PC=P1141=;DC=c.3423A>G;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:308,4:164/148:162/146,2/2:0:0.0 chr10 49470664 . C A 0.0 lowQ DP=343;TI=NM_000124.3;GI=ERCC6;FC=Missense;PC=S1099I;DC=c.3296G>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:339,4:177/166:175/164,2/2:0:0.0 chr10 49470671 rs2228526 T C 0.0 rs DP=342;TI=NM_000124.3;GI=ERCC6;FC=Missense;PC=M1097V;DC=c.3289A>G;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.450:188,154:170/172:91/97,79/75:2:0.1 chr10 49472477 . CAG C 0.0 lowQ;NC DP=177;TI=NM_000124.3;GI=ERCC6;FC=Noncoding;DC=c.2830-9_2830-8delCT;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.028:170,5:82/95:79/91,2/3:1:NA chr10 49472987 rs2229760 G A 0.0 rs DP=333;TI=NM_000124.3;GI=ERCC6;FC=Synonymous;PC=G917=;DC=c.2751C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.426:191,142:167/166:97/94,70/72:1:0.0 chr10 49493110 rs4253132 G A 0.0 rs DP=190;TI=NM_000124.3;GI=ERCC6;FC=Silent;DC=c.1821+7C>T;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,190:110/80:0/0,110/80:0:INF chr10 49505970 . CA C 0.0 lowQ DP=387;TI=NM_000124.3;GI=ERCC6;FC=Frameshift;PC=L480fs;DC=c.1439delT;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:383,4:185/202:183/200,2/2:0:NA chr10 49524092 . ACCT A 0.0 lowQ DP=493;TI=NM_000124.3;GI=ERCC6;FC=CODON_DELETION;PC=G446del;DC=c.1335_1337delAGG;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:486,7:282/211:279/207,3/4:4:NA chr10 49532830 rs2228524 G C 0.0 rs DP=2455;TI=NM_000124.3;GI=ERCC6;FC=Synonymous;PC=L45=;DC=c.135C>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2454:1097/1358:0/0,1096/1358:0:INF chr10 59807039 . T C 0.0 lowQ DP=1878;TI=NM_005436.4;GI=CCDC6;FC=Missense;PC=H296R;DC=c.887A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1856,22:945/933:935/921,10/12:2:0.1 chr10 59852708 . T TA 0.0 R8.1;NC DP=535;TI=NM_005436.4;GI=CCDC6;FC=Noncoding;DC=c.304-7dupT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.065:454,35:241/294:205/249,15/20:1:NA chr10 59852708 rs3215226 TA T 0.0 R8.1;NC;rs DP=535;TI=NM_005436.4;GI=CCDC6;FC=Noncoding;DC=c.304-7delT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.080:454,43:241/294:205/249,20/23:1:NA chr10 59906128 rs1171830 C A 0.0 rs DP=5101;TI=NM_005436.4;GI=CCDC6;FC=Synonymous;PC=V99=;DC=c.297G>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.479:2659,2442:2696/2405:1413/1246,1283/1159:2:0.0 chr10 62000328 . C CT 0.0 R8.1;NC DP=630;TI=NM_032199.2;GI=ARID5B;FC=Noncoding;DC=c.733+20dupT;LO=INTRON;EXON=4;oriDC=c.733+8dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.063:452,40:318/312:232/220,23/17:3:NA chr10 62000328 . CT C 0.0 R8.1;NC DP=630;TI=NM_032199.2;GI=ARID5B;FC=Noncoding;DC=c.733+20delT;LO=INTRON;EXON=4;oriDC=c.733+8delT GT:VF:AD:SB:SA:SP:SO 0/1:0.190:452,120:318/312:232/220,54/66:7:NA chr10 62000328 . CTT C 0.0 R8.1;lowQ;NC DP=630;TI=NM_032199.2;GI=ARID5B;FC=Noncoding;DC=c.733+19_733+20delTT;LO=INTRON;EXON=4;oriDC=c.733+8_733+9delTT GT:VF:AD:SB:SA:SP:SO 0/1:0.017:452,11:318/312:232/220,4/7:5:NA chr10 62057152 . G T 0.0 sb;lowQ DP=366;TI=NM_032199.2;GI=ARID5B;FC=Synonymous;PC=P294=;DC=c.882G>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:360,4:200/166:199/161,0/4:16:INF chr10 62057155 . G T 0.0 sb;lowQ DP=360;TI=NM_032199.2;GI=ARID5B;FC=Missense;PC=K295N;DC=c.885G>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:355,5:196/164:196/159,0/5:19:INF chr10 62057162 . C A 0.0 lowQ DP=354;TI=NM_032199.2;GI=ARID5B;FC=Missense;PC=H298N;DC=c.892C>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:350,4:190/164:189/161,1/3:6:0.5 chr10 62057169 . G T 0.0 sb;lowQ DP=342;TI=NM_032199.2;GI=ARID5B;FC=Missense;PC=C300F;DC=c.899G>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:337,5:189/153:189/148,0/5:19:INF chr10 62057207 . A T 0.0 sb;lowQ DP=349;TI=NM_032199.2;GI=ARID5B;FC=Missense;PC=I313F;DC=c.937A>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:344,5:194/155:194/150,0/5:19:INF chr10 62057213 . G T 0.0 sb;lowQ DP=349;TI=NM_032199.2;GI=ARID5B;FC=Nonsense;PC=E315*;DC=c.943G>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:345,4:204/145:204/141,0/4:18:INF chr10 62057250 . C A 0.0 lowQ DP=295;TI=NM_032199.2;GI=ARID5B;FC=Missense;PC=A327E;DC=c.980C>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:292,3:197/98:196/96,1/2:7:0.6 chr10 62069792 . T C 0.0 lowQ DP=188;TI=NM_032199.2;GI=ARID5B;FC=Synonymous;PC=Y398=;DC=c.1194T>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:185,3:88/100:87/98,1/2:2:0.2 chr10 62092538 . GA G 0.0 lowQ DP=1975;TI=NM_032199.2;GI=ARID5B;FC=Frameshift;PC=K1027fs;DC=c.3080delA;LO=EXON;EXON=10;oriDC=c.3076delA GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1953,21:1008/967:998/955,10/11:1:NA chr10 68419885 . G A 0.0 lowQ DP=360;TI=NM_001080449.2;GI=DNA2;FC=Missense;PC=A902V;DC=c.2705C>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:356,4:175/185:173/183,2/2:0:0.0 chr10 68422763 . G GA 0.0 R8.1;lowQ DP=451;TI=NM_001080449.2;GI=DNA2;FC=Frameshift;PC=S779fs;DC=c.2335dupT;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:432,7:236/215:226/206,5/2:5:NA chr10 68422763 . GA G 0.0 R8.1;lowQ DP=451;TI=NM_001080449.2;GI=DNA2;FC=Frameshift;PC=S779fs;DC=c.2335delT;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:432,12:236/215:226/206,5/7:3:NA chr10 68432283 . C T 0.0 lowQ;Benign DP=295;TI=NM_001080449.2;GI=DNA2;FC=Missense;PC=R599H;DC=c.1796G>A;LO=EXON;EXON=12;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.014:291,4:157/138:155/136,2/2:0:0.1 chr10 68445088 . G GA 0.0 lowQ;NC DP=381;TI=NM_001080449.2;GI=DNA2;FC=Noncoding;DC=c.1058-6dupT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:374,4:186/195:182/192,2/2:0:NA chr10 68450113 . T C 0.0 RV DP=750;TI=NM_001080449.2;GI=DNA2;FC=Missense;PC=H285R;DC=c.854A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.071:697,53:387/363:361/336,26/27:2:0.0 chr10 68450250 . G GA 0.0 R8.1;NC DP=472;TI=NM_001080449.2;GI=DNA2;FC=Noncoding;DC=c.720-4dupT;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.083:377,39:259/213:210/167,24/15:3:NA chr10 68450250 . GA G 0.0 R8.1;NC DP=472;TI=NM_001080449.2;GI=DNA2;FC=Noncoding;DC=c.720-4delT;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.100:377,47:259/213:210/167,22/25:6:NA chr10 68450250 . GAA G 0.0 R8.1;lowQ;NC DP=472;TI=NM_001080449.2;GI=DNA2;FC=Noncoding;DC=c.720-5_720-4delTT;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:377,5:259/213:210/167,1/4:10:NA chr10 68459114 . G T 0.0 lowQ DP=321;TI=NM_001080449.2;GI=DNA2;FC=Missense;PC=Q237K;DC=c.709C>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:317,4:173/148:171/146,2/2:1:0.1 chr10 68465747 rs3758626 G T 0.0 rs DP=304;TI=NM_001080449.2;GI=DNA2;FC=Synonymous;PC=A169=;DC=c.507C>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.487:156,148:151/153:78/78,73/75:0:0.0 chr10 68468207 rs10998205 C T 0.0 rs DP=380;TI=NM_001080449.2;GI=DNA2;FC=Synonymous;PC=L119=;DC=c.357G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.463:204,176:192/188:103/101,89/87:0:0.0 chr10 68572395 . C CA 0.0 lowQ DP=370;TI=NM_030625.2;GI=TET1;FC=Frameshift;PC=K23fs;DC=c.65dupA;LO=EXON;EXON=2;oriDC=c.58dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.011:366,4:193/177:191/175,2/2:0:NA chr10 68572915 rs12773594 T A 0.0 rs DP=267;TI=NM_030625.2;GI=TET1;FC=Missense;PC=S193T;DC=c.577T>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.479:139,128:142/125:75/64,67/61:1:0.0 chr10 68573003 . G A 0.0 lowQ DP=292;TI=NM_030625.2;GI=TET1;FC=Missense;PC=R222H;DC=c.665G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:289,3:143/149:142/147,1/2:2:0.3 chr10 68573105 rs12221107 C T 0.0 rs DP=257;TI=NM_030625.2;GI=TET1;FC=Missense;PC=A256V;DC=c.767C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.459:139,118:133/124:69/70,64/54:3:0.1 chr10 68573260 . G T 0.0 lowQ DP=382;TI=NM_030625.2;GI=TET1;FC=Missense;PC=D308Y;DC=c.922G>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:378,4:206/176:204/174,2/2:1:0.1 chr10 68573298 . T G 0.0 lowQ DP=432;TI=NM_030625.2;GI=TET1;FC=Synonymous;PC=S320=;DC=c.960T>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:418,14:219/213:214/204,5/9:6:0.3 chr10 68645077 . G A 0.0 lowQ DP=292;TI=NM_030625.2;GI=TET1;FC=Missense;PC=G783D;DC=c.2348G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:289,3:144/148:143/146,1/2:2:0.3 chr10 68645243 . T A 0.0 lowQ DP=390;TI=NM_030625.2;GI=TET1;FC=Synonymous;PC=S838=;DC=c.2514T>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:385,4:199/191:197/188,2/2:0:0.0 chr10 68645696 . A G 0.0 lowQ DP=355;TI=NM_030625.2;GI=TET1;FC=Synonymous;PC=A989=;DC=c.2967A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:351,4:179/176:177/174,2/2:0:0.0 chr10 68646098 rs3998860 A G 0.0 rs DP=307;TI=NM_030625.2;GI=TET1;FC=Missense;PC=I1123M;DC=c.3369A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:0.993:2,305:165/142:1/1,164/141:0:0.1 chr10 68646203 . G A 0.0 lowQ DP=364;TI=NM_030625.2;GI=TET1;FC=Synonymous;PC=R1158=;DC=c.3474G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:360,4:188/176:187/173,1/3:5:0.5 chr10 68646545 . C T 0.0 lowQ DP=383;TI=NM_030625.2;GI=TET1;FC=Synonymous;PC=S1272=;DC=c.3816C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:379,4:198/185:196/183,2/2:0:0.0 chr10 68652494 . T C 0.0 lowQ DP=171;TI=NM_030625.2;GI=TET1;FC=Silent;DC=c.4368-7T>C;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:167,4:87/84:85/82,2/2:0:0.0 chr10 68667206 . A T 0.0 lowQ DP=397;TI=NM_030625.2;GI=TET1;FC=Synonymous;PC=L1541=;DC=c.4623A>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:393,4:183/214:181/212,2/2:1:0.1 chr10 70598821 rs885822 G A 0.0 rs DP=2746;TI=NM_005041.5;GI=PRF1;FC=Synonymous;PC=H300=;DC=c.900C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.506:1357,1389:1400/1346:678/679,722/667:5:0.0 chr10 71675149 rs10999947 G A 0.0 rs DP=1389;TI=NM_022124.5;GI=CDH23;FC=Missense;PC=S496N;DC=c.1487G>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.461:749,640:690/699:370/379,320/320:1:0.0 chr10 71679448 . C T 0.0 . DP=1463;TI=NM_022124.5;GI=CDH23;FC=Missense;PC=A605V;DC=c.1814C>T;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.470:776,687:705/758:376/400,329/358:1:0.0 chr10 71695444 rs3752752 T C 0.0 rs DP=1793;TI=NM_022124.5;GI=CDH23;FC=Synonymous;PC=N772=;DC=c.2316T>C;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,1792:938/855:0/1,938/854:0:INF chr10 71695516 rs3752751 T C 0.0 rs DP=1506;TI=NM_022124.5;GI=CDH23;FC=Synonymous;PC=D796=;DC=c.2388T>C;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 1/1:0.995:4,1498:676/828:2/2,673/825:1:0.1 chr10 71732322 rs1227065 A G 0.0 rs DP=1666;TI=NM_022124.5;GI=CDH23;FC=Missense;PC=N1351D;DC=c.4051A>G;LO=EXON;EXON=32 GT:VF:AD:SB:SA:SP:SO 0/1:0.483:861,805:775/891:397/464,378/427:1:0.0 chr10 71741799 rs1227051 G A 0.0 rs DP=2290;TI=NM_022124.5;GI=CDH23;FC=Missense;PC=A1575T;DC=c.4723G>A;LO=EXON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.472:1207,1081:1159/1131:610/597,548/533:0:0.0 chr10 71779391 rs111033480 G A 0.0 rs DP=2789;TI=NM_022124.5;GI=CDH23;FC=Missense;PC=R1771Q;DC=c.5312G>A;LO=EXON;EXON=41 GT:VF:AD:SB:SA:SP:SO 0/1:0.472:1472,1316:1378/1411:726/746,652/664:0:0.0 chr10 71790360 rs11592462 C G 0.0 rs DP=1857;TI=NM_022124.5;GI=CDH23;FC=Missense;PC=T1999S;DC=c.5996C>G;LO=EXON;EXON=46 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1857:905/952:0/0,905/952:0:INF chr10 71803078 . A T 0.0 sb.s;lowQ DP=1544;TI=NM_022124.5;GI=CDH23;FC=Silent;DC=c.7660+3A>T;LO=INTRON;EXON=54 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:1494,50:1028/516:1028/466,0/50:200:INF chr10 71812761 . T C 0.0 . DP=1815;TI=NM_022124.5;GI=CDH23;FC=Silent;DC=c.9511-7T>C;LO=INTRON;EXON=68 GT:VF:AD:SB:SA:SP:SO 0/1:0.488:930,885:969/846:489/441,480/405:3:0.0 chr10 74970010 . T C 0.0 lowQ DP=127;TI=NM_012330.3;GI=KAT6B;FC=Silent;DC=c.847-10T>C;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.024:124,3:70/57:69/55,1/2:4:0.4 chr10 74972584 . C T 0.0 lowQ DP=323;TI=NM_012330.3;GI=KAT6B;FC=Nonsense;PC=R336*;DC=c.1006C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:318,5:170/153:168/150,2/3:2:0.2 chr10 74972586 . A T 0.0 lowQ DP=320;TI=NM_012330.3;GI=KAT6B;FC=Synonymous;PC=R336=;DC=c.1008A>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:314,6:171/149:168/146,3/3:1:0.1 chr10 74979336 . C T 0.0 lowQ DP=263;TI=NM_012330.3;GI=KAT6B;FC=Missense;PC=A743V;DC=c.2228C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:259,4:133/130:131/128,2/2:0:0.0 chr10 74985250 . A G 0.0 lowQ DP=275;TI=NM_012330.3;GI=KAT6B;FC=Silent;DC=c.2535+9A>G;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:272,3:131/144:129/143,2/1:3:0.3 chr10 75021285 . G A 0.0 lowQ DP=346;TI=NM_012330.3;GI=KAT6B;FC=Synonymous;PC=E1007=;DC=c.3021G>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:342,4:146/200:144/198,2/2:1:0.1 chr10 75022147 . GGAA G 0.0 lowQ;Benign DP=135;TI=NM_012330.3;GI=KAT6B;FC=CODON_DELETION;PC=E1104del;DC=c.3310_3312delGAA;LO=EXON;EXON=16;oriDC=c.3289_3291delGAA;oriPC=E1097del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.030:129,4:76/59:73/56,2/2:1:NA chr10 75022194 . G A 0.0 lowQ DP=211;TI=NM_012330.3;GI=KAT6B;FC=Missense;PC=R1112K;DC=c.3335G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:208,3:110/101:108/100,2/1:2:0.3 chr10 75024948 . T C 0.0 lowQ DP=211;TI=NM_012330.3;GI=KAT6B;FC=Silent;DC=c.3373-10T>C;LO=INTRON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:207,4:121/90:119/88,2/2:1:0.1 chr10 87925500 . G A 0.0 lowQ DP=508;TI=NM_000314.6;GI=PTEN;FC=Silent;DC=c.165-13G>A;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:500,6:270/238:266/234,3/3:1:0.1 chr10 87961098 . T C 0.0 lowQ DP=1218;TI=NM_000314.6;GI=PTEN;FC=Missense;PC=Y336H;DC=c.1006T>C;LO=EXON;EXON=8;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1202,16:582/636:576/626,6/10:4:0.2 chr10 87965473 . AT A 0.0 R8.1;lowQ DP=1675;TI=NM_000314.6;GI=PTEN;FC=UTR;DC=c.*10delT;LO=3UTR;EXON=9;oriDC=c.*2delT GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1639,20:895/780:878/761,9/11:4:NA chr10 89010525 . A AT 0.0 R8.1;lowQ DP=808;TI=NM_000043.5;GI=FAS;FC=Noncoding;DC=c.444-5dupT;LO=INTRON;EXON=5;oriDC=c.444-13dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.038:771,31:412/396:394/377,15/16:1:NA chr10 89012072 rs2234978 T C 0.0 . DP=1539;TI=NM_000043.5;GI=FAS;FC=Synonymous;PC=T214=;DC=c.642T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.484:794,745:775/764:402/392,373/372:1:0.0 chr10 102397970 rs4919632 C T 0.0 rs DP=761;TI=NM_002502.5;GI=NFKB2;FC=Silent;DC=c.662-11C>T;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,761:419/342:0/0,419/342:0:INF chr10 102399439 rs4919633 A G 0.0 rs DP=2623;TI=NM_002502.5;GI=NFKB2;FC=Synonymous;PC=P423=;DC=c.1269A>G;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:1,2622:1305/1318:1/0,1304/1318:0:INF chr10 102400677 rs4919634 A G 0.0 rs DP=1771;TI=NM_002502.5;GI=NFKB2;FC=Synonymous;PC=A607=;DC=c.1821A>G;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1771:946/825:0/0,946/825:0:INF chr10 102504183 . G C 0.0 sb.s DP=5719;TI=NM_016169.3;GI=SUFU;FC=Missense;PC=G11R;DC=c.31G>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.163:4770,933:1480/4227:546/4224,933/0:200:INF chr10 102504189 . A C 0.0 sb.s;lowQ DP=5211;TI=NM_016169.3;GI=SUFU;FC=Missense;PC=T13P;DC=c.37A>C;LO=EXON;EXON=1;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.048:4959,249:1131/4077:882/4077,249/0:200:INF chr10 102504192 . G C 0.0 sb.s DP=5068;TI=NM_016169.3;GI=SUFU;FC=Missense;PC=A14P;DC=c.40G>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.064:4739,325:913/4155:586/4153,325/0:200:INF chr10 102504200 . G C 0.0 sb.s DP=5341;TI=NM_016169.3;GI=SUFU;FC=Synonymous;PC=P16=;DC=c.48G>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.103:4787,550:1164/4176:615/4172,549/1:200:3.6 chr10 102627177 rs17114803 T C 0.0 . DP=1745;TI=NM_016169.3;GI=SUFU;FC=Synonymous;PC=I433=;DC=c.1299T>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.485:898,847:955/790:491/407,464/383:0:0.0 chr10 102837167 rs6163 C A 0.0 . DP=2167;TI=NM_000102.3;GI=CYP17A1;FC=Synonymous;PC=S65=;DC=c.195G>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.456:1178,988:1119/1048:613/565,506/482:2:0.0 chr10 102837224 rs6162 G A 0.0 . DP=2079;TI=NM_000102.3;GI=CYP17A1;FC=Synonymous;PC=H46=;DC=c.138C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2079:1003/1076:0/0,1003/1076:0:INF chr10 103089678 . TTCC T 0.0 lowQ DP=581;TI=NM_012229.4;GI=NT5C2;FC=CODON_DELETION;PC=E560del;DC=c.1677_1679delGGA;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:569,11:341/240:335/234,5/6:4:NA chr10 103089711 rs3740387 G A 0.0 rs DP=704;TI=NM_012229.4;GI=NT5C2;FC=Synonymous;PC=D549=;DC=c.1647C>T;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,704:383/321:0/0,383/321:0:INF chr10 103090939 . A G 0.0 lowQ DP=530;TI=NM_012229.4;GI=NT5C2;FC=Synonymous;PC=I423=;DC=c.1269T>C;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:524,6:273/257:269/255,4/2:3:0.3 chr10 110583833 rs11195199 G A 0.0 rs DP=269;TI=NM_005445.3;GI=SMC3;FC=Silent;DC=c.970-8G>A;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.506:133,136:144/125:73/60,71/65:2:0.0 chr10 110589667 . C T 0.0 lowQ DP=334;TI=NM_005445.3;GI=SMC3;FC=Synonymous;PC=Y456=;DC=c.1368C>T;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:329,4:173/161:171/158,2/2:0:0.0 chr10 110599658 . G A 0.0 lowQ DP=397;TI=NM_005445.3;GI=SMC3;FC=Missense;PC=R758H;DC=c.2273G>A;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:393,4:211/186:209/184,2/2:0:0.1 chr10 110601770 . A G 0.0 lowQ DP=515;TI=NM_005445.3;GI=SMC3;FC=Synonymous;PC=T926=;DC=c.2778A>G;LO=EXON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:509,6:247/268:244/265,3/3:0:0.0 chr10 110602112 rs2419565 A G 0.0 rs DP=470;TI=NM_005445.3;GI=SMC3;FC=Synonymous;PC=S1013=;DC=c.3039A>G;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,470:245/225:0/0,245/225:0:INF chr10 112527127 . A G 0.0 lowQ DP=278;TI=NM_145206.3;GI=VTI1A;FC=Missense;PC=E102G;DC=c.305A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:274,4:137/141:135/139,2/2:0:0.0 chr10 112950748 rs373426839 G GA 0.0 R8.1;lowQ DP=2592;TI=NM_030756.4;GI=TCF7L2;FC=Frameshift;PC=M1fs;DC=c.1_2insA;LO=EXON;EXON=1;oriDC=c.-8dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.021:2486,55:1501/1091:1442/1044,31/24:1:NA chr10 112950748 . GA G 0.0 R8.1;lowQ DP=2592;TI=NM_030756.4;GI=TCF7L2;FC=Frameshift;PC=M1fs;DC=c.1delA;LO=EXON;EXON=1;oriDC=c.-8delA GT:VF:AD:SB:SA:SP:SO 0/1:0.018:2486,47:1501/1091:1442/1044,26/21:1:NA chr10 113151070 rs201875922 A G 0.0 . DP=4489;TI=NM_030756.4;GI=TCF7L2;FC=Synonymous;PC=T293=;DC=c.879A>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.496:2262,2225:2368/2121:1190/1072,1177/1048:1:0.0 chr10 113165557 . G GA 0.0 R8.1;lowQ DP=4830;TI=NM_030756.4;GI=TCF7L2;FC=Frameshift;PC=C463fs;DC=c.1385dupA;LO=EXON;EXON=14;oriDC=c.1377dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.020:4697,96:2662/2168:2584/2113,57/39:4:NA chr10 113165654 . G C 0.0 sb.s;lowQ DP=4215;TI=NM_030756.4;GI=TCF7L2;FC=Synonymous;PC=P491=;DC=c.1473G>C;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:4075,136:1003/3212:867/3208,135/1:200:2.7 chr10 121538644 rs1047100 T C 0.0 . DP=2299;TI=NM_000141.4;GI=FGFR2;FC=Synonymous;PC=V232=;DC=c.696A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:4,2295:1179/1120:2/2,1177/1118:0:0.0 chr11 534282 . A C 0.0 sb.s;lowQ DP=6974;TI=NM_005343.3;GI=HRAS;FC=Missense;PC=V14G;DC=c.41T>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.038:6708,263:2940/4034:2676/4032,263/0:200:INF chr11 534332 rs41294870 G A 0.0 . DP=5754;TI=NM_005343.3;GI=HRAS;FC=Silent;DC=c.-10C>T;LO=5UTR;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.492:2921,2831:2642/3112:1336/1585,1305/1526:1:0.0 chr11 2884859 . C G 0.0 sb.s;lowQ DP=1664;TI=NM_000076.2;GI=CDKN1C;FC=Missense;PC=A211P;DC=c.631G>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:1612,51:1104/560:1101/511,2/49:200:1.7 chr11 2885007 . AGCCGGGGCCGGG A 0.0 . DP=2749;TI=NM_000076.2;GI=CDKN1C;FC=CODON_DELETION;PC=P158_A161del;DC=c.471_482del12;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.416:1606,1143:1312/1438:765/842,547/596:0:INF chr11 2885010 . C T 0.0 lowQ DP=2607;TI=NM_000076.2;GI=CDKN1C;FC=Synonymous;PC=P160=;DC=c.480G>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:1590,47:824/816:795/795,27/20:5:0.1 chr11 2885013 . G A 0.0 lowQ DP=2628;TI=NM_000076.2;GI=CDKN1C;FC=Synonymous;PC=A159=;DC=c.477C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:1615,46:783/878:760/855,23/23:2:0.1 chr11 2885019 . G A 0.0 lowQ DP=2570;TI=NM_000076.2;GI=CDKN1C;FC=Synonymous;PC=A157=;DC=c.471C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:1559,46:755/850:733/826,22/24:0:0.0 chr11 3006910 rs729662 G A 0.0 rs DP=2828;TI=NM_001751.5;GI=CARS;FC=Synonymous;PC=P623=;DC=c.1869C>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2827:1531/1297:0/0,1531/1296:0:INF chr11 3693381 . C G 0.0 lowQ DP=346;TI=NM_016320.4;GI=NUP98;FC=Silent;DC=c.4168-6G>C;LO=INTRON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:342,4:149/197:147/195,2/2:1:0.1 chr11 3695605 . C A 0.0 lowQ DP=510;TI=NM_016320.4;GI=NUP98;FC=Synonymous;PC=G1337=;DC=c.4011G>T;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:504,6:235/275:232/272,3/3:1:0.1 chr11 3699158 . GT G 0.0 lowQ DP=875;TI=NM_016320.4;GI=NUP98;FC=Frameshift;PC=N1311fs;DC=c.3932delA;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:865,10:440/435:435/430,5/5:0:NA chr11 3705218 . A T 0.0 lowQ DP=343;TI=NM_016320.4;GI=NUP98;FC=Missense;PC=S1022T;DC=c.3064T>A;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:336,7:180/163:175/161,5/2:5:0.4 chr11 3705219 . C T 0.0 lowQ DP=345;TI=NM_016320.4;GI=NUP98;FC=Synonymous;PC=S1021=;DC=c.3063G>A;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:341,4:181/164:179/162,2/2:0:0.0 chr11 3713846 . C T 0.0 lowQ DP=343;TI=NM_016320.4;GI=NUP98;FC=Missense;PC=R850Q;DC=c.2549G>A;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:338,4:179/164:176/162,2/2:0:0.0 chr11 3720800 . G T 0.0 sb;lowQ DP=274;TI=NM_016320.4;GI=NUP98;FC=Nonsense;PC=Y724*;DC=c.2172C>A;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:271,3:167/107:167/104,0/3:15:INF chr11 3720815 . G T 0.0 sb;lowQ DP=229;TI=NM_016320.4;GI=NUP98;FC=Synonymous;PC=L719=;DC=c.2157C>A;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:226,3:141/88:141/85,0/3:16:INF chr11 3720832 . C A 0.0 sb.s DP=135;TI=NM_016320.4;GI=NUP98;FC=Silent;DC=c.2147-7G>T;LO=INTRON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.104:121,14:92/43:92/29,0/14:81:INF chr11 3720832 . C CA 0.0 sb;R8.1;NC DP=128;TI=NM_016320.4;GI=NUP98;FC=Noncoding;DC=c.2147-8dupT;LO=INTRON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.242:66,31:89/39:37/29,25/6:17:NA chr11 3720832 . C CAA 0.0 sb;R8.1;NC DP=128;TI=NM_016320.4;GI=NUP98;FC=Noncoding;DC=c.2147-9_2147-8dupTT;LO=INTRON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.156:66,20:89/39:37/29,17/3:17:NA chr11 3720832 . C CAAA 0.0 R8.1;NC DP=128;TI=NM_016320.4;GI=NUP98;FC=Noncoding;DC=c.2147-10_2147-8dupTTT;LO=INTRON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.070:66,9:89/39:37/29,8/1:12:NA chr11 3735226 . G T 0.0 lowQ DP=396;TI=NM_016320.4;GI=NUP98;FC=Synonymous;PC=R503=;DC=c.1507C>A;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:390,4:197/199:194/196,2/2:0:0.0 chr11 3768727 . T G 0.0 lowQ DP=282;TI=NM_016320.4;GI=NUP98;FC=Missense;PC=T268P;DC=c.802A>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:279,3:114/168:113/166,1/2:1:0.1 chr11 3768728 . T A 0.0 lowQ DP=281;TI=NM_016320.4;GI=NUP98;FC=Synonymous;PC=G267=;DC=c.801A>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:278,3:112/169:111/167,1/2:1:0.1 chr11 3768729 . C A 0.0 lowQ DP=250;TI=NM_016320.4;GI=NUP98;FC=Missense;PC=G267V;DC=c.800G>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:246,4:101/149:99/147,2/2:2:0.2 chr11 3768758 . GA G 0.0 R8.1;NC DP=86;TI=NM_016320.4;GI=NUP98;FC=Noncoding;DC=c.785-15delT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.058:81,5:31/55:30/51,1/4:4:NA chr11 3778976 . T C 0.0 lowQ DP=583;TI=NM_016320.4;GI=NUP98;FC=Synonymous;PC=S84=;DC=c.252A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:573,10:300/283:295/278,5/5:0:0.0 chr11 14294582 . T TA 0.0 R8.1;NC DP=175;TI=NM_012250.5;GI=RRAS2;FC=Noncoding;DC=c.300-4dupT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.069:155,12:84/91:74/81,6/6:1:NA chr11 14294582 . TA T 0.0 R8.1;lowQ;NC DP=175;TI=NM_012250.5;GI=RRAS2;FC=Noncoding;DC=c.300-4delT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.046:155,8:84/91:74/81,4/4:0:NA chr11 22625820 rs3740615 G A 0.0 . DP=6997;TI=NM_022725.3;GI=FANCF;FC=Silent;DC=c.-10C>T;LO=5UTR;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.485:3602,3395:3187/3810:1625/1977,1562/1833:3:0.0 chr11 33859350 rs3740616 T A 0.0 rs DP=738;TI=NM_001142315.1;GI=LMO2;FC=Silent;DC=c.*6A>T;LO=3UTR;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.482:382,356:408/330:213/169,195/161:1:0.0 chr11 33859470 rs3740617 T C 0.0 rs DP=1224;TI=NM_001142315.1;GI=LMO2;FC=Synonymous;PC=K121=;DC=c.363A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.510:600,624:626/598:309/291,317/307:1:0.0 chr11 33864748 rs2038602 A G 0.0 rs DP=2210;TI=NM_001142315.1;GI=LMO2;FC=Synonymous;PC=I37=;DC=c.111T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.517:1068,1142:1072/1138:519/549,553/589:0:0.0 chr11 44124964 . G A 0.0 . DP=427;TI=NM_207122.1;GI=EXT2;FC=Missense;PC=D307N;DC=c.919G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.475:224,203:193/234:102/122,91/112:1:0.0 chr11 46307928 . T G 0.0 sb;lowQ DP=977;TI=NM_052854.3;GI=CREB3L1;FC=Synonymous;PC=A148=;DC=c.444T>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:948,29:507/470:499/449,8/21:21:0.5 chr11 46307937 . C A 0.0 lowQ DP=1342;TI=NM_052854.3;GI=CREB3L1;FC=Synonymous;PC=A151=;DC=c.453C>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1327,15:655/687:648/679,7/8:1:0.0 chr11 46320530 . TG T 0.0 NC DP=1683;TI=NM_052854.3;GI=CREB3L1;FC=Noncoding;DC=c.1523+6delG;LO=INTRON;EXON=11;oriDC=c.1523+3delG GT:VF:AD:SB:SA:SP:SO 1/1:0.964:60,1623:823/860:24/36,799/824:8:NA chr11 47578042 rs368090346 C A 0.0 . DP=407;TI=NM_018095.5;GI=KBTBD4;FC=Silent;DC=c.20-14G>T;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.467:216,190:193/214:107/109,86/104:4:0.1 chr11 57236870 rs948847 G T 0.0 rs DP=2215;TI=NM_005161.4;GI=APLNR;FC=Synonymous;PC=G45=;DC=c.135C>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.472:1169,1046:1102/1113:587/582,515/531:2:0.0 chr11 64804546 rs2959656 T C 0.0 Benign DP=8367;TI=NM_130799.2;GI=MEN1;FC=Missense;PC=T541A;DC=c.1621A>G;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.998:12,8347:4107/4260:5/7,4098/4249:2:0.1 chr11 64805085 rs540012 A G 0.0 . DP=9533;TI=NM_130799.2;GI=MEN1;FC=Synonymous;PC=H433=;DC=c.1299T>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:17,9512:4830/4703:7/10,4820/4692:4:0.2 chr11 65654460 . T C 0.0 lowQ DP=1422;TI=NM_021975.3;GI=RELA;FC=Missense;PC=N525S;DC=c.1574A>G;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1403,19:752/670:741/662,11/8:2:0.1 chr11 65654465 . GA G 0.0 lowQ DP=1507;TI=NM_021975.3;GI=RELA;FC=Frameshift;PC=L523fs;DC=c.1568delT;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:1484,23:802/705:790/694,12/11:0:NA chr11 67490352 rs641081 C A 0.0 Benign DP=6396;TI=NM_003977.3;GI=AIP;FC=Missense;PC=Q228K;DC=c.682C>A;LO=EXON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,6393:3369/3027:0/0,3368/3025:0:INF chr11 69648142 rs9344 G A 0.0 . DP=6367;TI=NM_053056.2;GI=CCND1;FC=Synonymous;PC=P241=;DC=c.723G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:1,6366:2939/3428:1/0,2938/3428:0:INF chr11 69651219 . AGAG A 0.0 lowQ DP=8837;TI=NM_053056.2;GI=CCND1;FC=CODON_DELETION;PC=E280del;DC=c.839_841delAGG;LO=EXON;EXON=5;oriDC=c.826_828delGAG;oriPC=E276del;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.011:8736,94:3946/4889:3901/4835,43/51:1:NA chr11 69774788 rs11600280 G A 0.0 rs DP=1296;TI=NM_002007.3;GI=FGF4;FC=Synonymous;PC=L99=;DC=c.297C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.478:677,619:643/653:353/324,290/329:12:0.1 chr11 69810352 . C T 0.0 . DP=1381;TI=NM_005247.2;GI=FGF3;FC=Missense;PC=V225I;DC=c.673G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.477:722,659:724/657:375/347,349/310:2:0.0 chr11 74611487 . A G 0.0 lowQ DP=227;TI=NM_006591.2;GI=POLD3;FC=Silent;DC=c.220-12A>G;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:223,4:117/110:115/108,2/2:0:0.0 chr11 74625563 . G GA 0.0 R8.1;lowQ DP=364;TI=NM_006591.2;GI=POLD3;FC=Frameshift;PC=R300fs;DC=c.898dupA;LO=EXON;EXON=8;oriDC=c.890dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.016:357,6:196/168:192/165,3/3:1:NA chr11 74629317 . G A 0.0 lowQ DP=333;TI=NM_006591.2;GI=POLD3;FC=Missense;PC=D334N;DC=c.1000G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:329,4:153/180:151/178,2/2:1:0.1 chr11 76447012 . T C 0.0 lowQ DP=344;TI=NM_020193.4;GI=EMSY;FC=Silent;DC=c.70+4T>C;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:333,11:167/177:162/171,5/6:1:0.1 chr11 76451932 . C A 0.0 lowQ DP=183;TI=NM_020193.4;GI=EMSY;FC=Missense;PC=L49I;DC=c.145C>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:180,3:97/86:95/85,2/1:2:0.3 chr11 76458228 . T A 0.0 lowQ DP=314;TI=NM_020193.4;GI=EMSY;FC=Synonymous;PC=R97=;DC=c.291T>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:310,4:164/150:162/148,2/2:0:0.0 chr11 76459967 . A G 0.0 lowQ DP=553;TI=NM_020193.4;GI=EMSY;FC=Synonymous;PC=S151=;DC=c.453A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:545,8:290/263:286/259,4/4:1:0.0 chr11 76496469 . G A 0.0 lowQ DP=267;TI=NM_020193.4;GI=EMSY;FC=Missense;PC=G455S;DC=c.1363G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:262,4:116/151:114/148,2/2:1:0.1 chr11 76516138 rs2508740 G A 0.0 rs DP=360;TI=NM_020193.4;GI=EMSY;FC=Silent;DC=c.1514-4G>A;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.489:184,176:198/162:101/83,97/79:0:0.0 chr11 76539618 . A G 0.0 lowQ DP=398;TI=NM_020193.4;GI=EMSY;FC=Synonymous;PC=T845=;DC=c.2535A>G;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:394,4:201/197:199/195,2/2:0:0.0 chr11 76544829 . G T 0.0 sb;lowQ DP=760;TI=NM_020193.4;GI=EMSY;FC=Silent;DC=c.3273+7G>T;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:747,13:397/363:395/352,2/11:21:0.8 chr11 76545925 . C A 0.0 lowQ DP=281;TI=NM_020193.4;GI=EMSY;FC=Missense;PC=S1134R;DC=c.3402C>A;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:278,3:142/139:141/137,1/2:3:0.3 chr11 76546088 . T A 0.0 lowQ DP=321;TI=NM_020193.4;GI=EMSY;FC=Missense;PC=S1189T;DC=c.3565T>A;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:316,4:160/161:158/158,2/2:0:0.0 chr11 76546171 rs3753051 T C 0.0 rs DP=371;TI=NM_020193.4;GI=EMSY;FC=Synonymous;PC=T1216=;DC=c.3648T>C;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.518:179,192:196/175:92/87,104/88:2:0.0 chr11 77323356 . T C 0.0 lowQ DP=352;TI=NM_002576.4;GI=PAK1;FC=Missense;PC=Q519R;DC=c.1556A>G;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:348,4:164/188:162/186,2/2:1:0.1 chr11 77340638 rs2725832 G C 0.0 rs DP=421;TI=NM_002576.4;GI=PAK1;FC=Silent;DC=c.1116+8C>G;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.511:206,215:231/190:111/95,120/95:2:0.0 chr11 77358944 . GCAT G 0.0 lowQ;Benign DP=598;TI=NM_002576.4;GI=PAK1;FC=CODON_DELETION;PC=D183del;DC=c.548_550delATG;LO=EXON;EXON=6;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.022:584,13:313/285:306/278,6/7:2:NA chr11 86252208 . C T 0.0 lowQ DP=351;TI=NM_003797.4;GI=EED;FC=Missense;PC=P110S;DC=c.328C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:347,4:168/183:166/181,2/2:0:0.0 chr11 86252220 . G A 0.0 lowQ DP=340;TI=NM_003797.4;GI=EED;FC=Missense;PC=A114T;DC=c.340G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:336,4:163/177:161/175,2/2:0:0.0 chr11 86257581 rs974144 C T 0.0 rs DP=245;TI=NM_003797.4;GI=EED;FC=Synonymous;PC=L207=;DC=c.619C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.535:114,131:120/125:55/59,65/66:1:0.0 chr11 86266075 rs10898460 G A 0.0 rs DP=224;TI=NM_003797.4;GI=EED;FC=Silent;DC=c.727-8G>A;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,224:119/105:0/0,119/105:0:INF chr11 92353347 rs10830902 C T 0.0 rs DP=354;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=S412F;DC=c.1235C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.452:194,160:183/171:100/94,83/77:0:0.0 chr11 92353483 rs10830903 G A 0.0 rs DP=454;TI=NM_001008781.2;GI=FAT3;FC=Synonymous;PC=Q457=;DC=c.1371G>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.511:222,232:234/220:112/110,122/110:2:0.0 chr11 92353672 . C T 0.0 lowQ DP=483;TI=NM_001008781.2;GI=FAT3;FC=Synonymous;PC=V520=;DC=c.1560C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:475,6:229/254:225/250,3/3:0:0.0 chr11 92353782 . G T 0.0 lowQ DP=335;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=R557L;DC=c.1670G>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:329,4:168/167:165/164,2/2:0:0.0 chr11 92354037 . C A 0.0 lowQ DP=317;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=S642Y;DC=c.1925C>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:313,4:156/161:154/159,2/2:0:0.0 chr11 92354370 . C A 0.0 lowQ DP=308;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=A753D;DC=c.2258C>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:303,5:149/159:147/156,2/3:2:0.2 chr11 92354483 . C A 0.0 lowQ DP=233;TI=NM_001008781.2;GI=FAT3;FC=Synonymous;PC=R791=;DC=c.2371C>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:229,4:117/116:115/114,2/2:0:0.0 chr11 92354793 rs80293525 G A 0.0 rs DP=523;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=R894Q;DC=c.2681G>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.472:276,247:264/259:138/138,126/121:1:0.0 chr11 92355011 rs7479732 C T 0.0 rs DP=370;TI=NM_001008781.2;GI=FAT3;FC=Synonymous;PC=L967=;DC=c.2899C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:1,369:175/195:0/1,175/194:0:INF chr11 92355203 . G A 0.0 lowQ DP=398;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=V1031M;DC=c.3091G>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:394,4:196/202:194/200,2/2:0:0.0 chr11 92355396 . A T 0.0 lowQ DP=339;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=D1095V;DC=c.3284A>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:334,5:156/183:153/181,3/2:3:0.2 chr11 92355397 . C T 0.0 lowQ DP=344;TI=NM_001008781.2;GI=FAT3;FC=Synonymous;PC=D1095=;DC=c.3285C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:340,4:158/186:156/184,2/2:1:0.1 chr11 92524839 . T G 0.0 lowQ DP=451;TI=NM_001008781.2;GI=FAT3;FC=Synonymous;PC=S1166=;DC=c.3498T>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:438,12:219/232:214/224,5/7:2:0.1 chr11 92524896 . C A 0.0 lowQ DP=393;TI=NM_001008781.2;GI=FAT3;FC=Nonsense;PC=Y1185*;DC=c.3555C>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:389,4:191/202:189/200,2/2:0:0.0 chr11 92790003 . G A 0.0 lowQ DP=262;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=D1466N;DC=c.4396G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:257,4:142/120:139/118,2/2:1:0.1 chr11 92798190 rs7949157 A G 0.0 rs DP=385;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=Q1726R;DC=c.5177A>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,385:181/204:0/0,181/204:0:INF chr11 92799511 rs12362722 T C 0.0 rs DP=254;TI=NM_001008781.2;GI=FAT3;FC=Synonymous;PC=P2166=;DC=c.6498T>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,254:122/132:0/0,122/132:0:INF chr11 92800895 . G A 0.0 lowQ DP=284;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=D2628N;DC=c.7882G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:281,3:135/149:133/148,2/1:3:0.3 chr11 92800955 . G A 0.0 lowQ DP=276;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=A2648T;DC=c.7942G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:272,4:134/142:132/140,2/2:0:0.0 chr11 92801275 . C T 0.0 lowQ DP=367;TI=NM_001008781.2;GI=FAT3;FC=Synonymous;PC=G2754=;DC=c.8262C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:363,4:192/175:190/173,2/2:0:0.0 chr11 92801276 rs3847531 A G 0.0 rs DP=373;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=I2755V;DC=c.8263A>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,373:188/185:0/0,188/185:0:INF chr11 92805355 . A G 0.0 lowQ DP=357;TI=NM_001008781.2;GI=FAT3;FC=Silent;DC=c.9093+6A>G;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:353,4:163/194:161/192,2/2:1:0.1 chr11 92836695 . C T 0.0 lowQ DP=341;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=R3406W;DC=c.10216C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:337,4:156/185:154/183,2/2:1:0.1 chr11 92840745 . G T 0.0 Benign DP=610;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=V3518L;DC=c.10552G>T;LO=EXON;EXON=17;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.428:349,261:289/321:169/180,120/141:3:0.0 chr11 92857282 rs4753069 A G 0.0 rs DP=1273;TI=NM_001008781.2;GI=FAT3;FC=Missense;PC=S3812G;DC=c.11434A>G;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1272:639/634:0/0,639/633:0:INF chr11 92886999 . G T 0.0 lowQ DP=285;TI=NM_001008781.2;GI=FAT3;FC=Splicing;DC=c.12938-1G>T;LO=SPLICING;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:282,3:159/126:157/125,2/1:2:0.2 chr11 92890711 rs12277422 G A 0.0 rs DP=1474;TI=NM_001008781.2;GI=FAT3;FC=Synonymous;PC=P4424=;DC=c.13272G>A;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.483:762,712:735/739:383/379,352/360:1:0.0 chr11 94435853 . G A 0.0 lowQ DP=374;TI=NM_005590.3;GI=MRE11;FC=Missense;PC=T630I;DC=c.1889C>T;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:370,4:191/183:189/181,2/2:0:0.0 chr11 94437197 . T C 0.0 lowQ DP=788;TI=NM_005590.3;GI=MRE11;FC=Missense;PC=T608A;DC=c.1822A>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:780,8:394/394:390/390,4/4:0:0.0 chr11 94437201 . A G 0.0 lowQ DP=795;TI=NM_005590.3;GI=MRE11;FC=Synonymous;PC=N606=;DC=c.1818T>C;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:781,14:400/395:395/386,5/9:6:0.3 chr11 94437203 . T A 0.0 lowQ DP=787;TI=NM_005590.3;GI=MRE11;FC=Missense;PC=N606Y;DC=c.1816A>T;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:774,13:391/396:386/388,5/8:4:0.2 chr11 94478882 rs535801 C T 0.0 . DP=446;TI=NM_005590.3;GI=MRE11;FC=Silent;DC=c.403-6G>A;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.496:225,221:198/248:102/123,96/125:2:0.0 chr11 94479764 . T TA 0.0 R8.1 DP=1349;TI=NM_005590.3;GI=MRE11;FC=Noncoding;DC=c.315-4dupT;LO=INTRON;EXON=5;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.066:1214,89:651/698:588/626,42/47:1:NA chr11 94479764 . TA T 0.0 R8.1;lowQ DP=1349;TI=NM_005590.3;GI=MRE11;FC=Noncoding;DC=c.315-4delT;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:1214,42:651/698:588/626,19/23:2:NA chr11 95979733 rs7123133 G T 0.0 rs DP=688;TI=NM_032427.3;GI=MAML2;FC=Missense;PC=P896T;DC=c.2686C>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.519:331,357:323/365:154/177,169/188:1:0.0 chr11 95979860 rs7123272 G A 0.0 rs DP=531;TI=NM_032427.3;GI=MAML2;FC=Synonymous;PC=H853=;DC=c.2559C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.456:289,242:245/286:137/152,108/134:3:0.0 chr11 96092039 rs149006316 TTGC T 0.0 lowQ;rs DP=3644;TI=NM_032427.3;GI=MAML2;FC=CODON_DELETION;PC=Q664del;DC=c.1989_1991delGCA;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:3588,39:1952/1690:1921/1667,22/17:1:NA chr11 96092057 . C T 0.0 lowQ DP=3854;TI=NM_032427.3;GI=MAML2;FC=Synonymous;PC=Q658=;DC=c.1974G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:3789,61:1979/1873:1948/1841,30/31:1:0.0 chr11 96092258 . C T 0.0 lowQ DP=3705;TI=NM_032427.3;GI=MAML2;FC=Synonymous;PC=Q591=;DC=c.1773G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:3641,60:1693/2010:1666/1975,26/34:1:0.0 chr11 96092633 rs7931870 A G 0.0 rs DP=1513;TI=NM_032427.3;GI=MAML2;FC=Synonymous;PC=S466=;DC=c.1398T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.494:765,748:762/751:386/379,376/372:0:0.0 chr11 96093147 . T A 0.0 lowQ DP=545;TI=NM_032427.3;GI=MAML2;FC=Missense;PC=D295V;DC=c.884A>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:538,7:253/292:250/288,3/4:1:0.1 chr11 102324611 . T G 0.0 lowQ DP=498;TI=NM_001165.4;GI=BIRC3;FC=Synonymous;PC=S34=;DC=c.102T>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:489,7:255/241:253/236,2/5:7:0.4 chr11 102328882 rs201836037 T A 0.0 rs DP=35;TI=NM_001165.4;GI=BIRC3;FC=Silent;DC=c.1033-15T>A;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.629:13,22:19/16:7/6,12/10:0:0.0 chr11 102336054 . C A 0.0 lowQ DP=268;TI=NM_001165.4;GI=BIRC3;FC=Synonymous;PC=A471=;DC=c.1413C>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:265,3:130/138:129/136,1/2:2:0.3 chr11 108244118 . G C 0.0 lowQ DP=1596;TI=NM_000051.3;GI=ATM;FC=Missense;PC=R221T;DC=c.662G>C;LO=EXON;EXON=6;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.035:1540,56:813/783:786/754,27/29:2:0.0 chr11 108251990 . T C 0.0 lowQ DP=1425;TI=NM_000051.3;GI=ATM;FC=Synonymous;PC=G587=;DC=c.1761T>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:1405,20:666/759:657/748,9/11:1:0.0 chr11 108254034 rs4986761 T C 0.0 Benign DP=1352;TI=NM_000051.3;GI=ATM;FC=Missense;PC=S707P;DC=c.2119T>C;LO=EXON;EXON=13;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.470:716,636:635/717:337/379,298/338:0:0.0 chr11 108256253 . T G 0.0 lowQ DP=980;TI=NM_000051.3;GI=ATM;FC=Synonymous;PC=L721=;DC=c.2163T>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:962,17:538/442:526/436,11/6:4:0.2 chr11 108271272 . T A 0.0 sb;lowQ DP=1608;TI=NM_000051.3;GI=ATM;FC=Synonymous;PC=R981=;DC=c.2943T>A;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.024:1566,38:802/806:789/777,12/26:17:0.3 chr11 108280980 rs3218681 T TA 0.0 Benign DP=294;TI=NM_000051.3;GI=ATM;FC=Noncoding;DC=c.3403-13dupA;LO=INTRON;EXON=24;oriDC=c.3403-14dupA;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.952:4,280:161/133:2/2,153/127:1:NA chr11 108280980 rs3218681 T TTA 0.0 lowQ;Benign DP=294;TI=NM_000051.3;GI=ATM;FC=Noncoding;DC=c.3403-15_3403-14insTA;LO=INTRON;EXON=24;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.034:4,10:161/133:2/2,6/4:1:NA chr11 108289005 rs3092856 C T 0.0 Benign DP=1275;TI=NM_000051.3;GI=ATM;FC=Missense;PC=H1380Y;DC=c.4138C>T;LO=EXON;EXON=28;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.482:660,615:635/640:332/328,303/312:1:0.0 chr11 108292650 . A C 0.0 lowQ DP=1771;TI=NM_000051.3;GI=ATM;FC=Missense;PC=S1490R;DC=c.4468A>C;LO=EXON;EXON=30 GT:VF:AD:SB:SA:SP:SO 0/1:0.024:1726,43:907/862:881/845,26/17:7:0.2 chr11 108326230 . G GT 0.0 lowQ;Benign DP=1037;TI=NM_000051.3;GI=ATM;FC=Noncoding;DC=c.6975+13dupT;LO=INTRON;EXON=47;oriDC=c.6975+6dupT;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1024,11:439/598:433/591,5/6:1:NA chr11 118436698 . CGCG C 0.0 lowQ;Benign DP=4429;TI=NM_005933.3;GI=KMT2A;FC=CODON_DELETION;PC=A67del;DC=c.200_202delCGG;LO=EXON;EXON=1;oriDC=c.187_189delGCG;oriPC=A63del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.022:4328,97:2309/2120:2257/2071,50/47:0:NA chr11 118504353 . A G 0.0 lowQ DP=1819;TI=NM_005933.3;GI=KMT2A;FC=Missense;PC=K2818E;DC=c.8452A>G;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1800,19:893/926:886/914,7/12:5:0.2 chr11 118505734 . C A 0.0 lowQ DP=2956;TI=NM_005933.3;GI=KMT2A;FC=Missense;PC=S3278Y;DC=c.9833C>A;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:2921,31:1555/1401:1540/1381,13/18:6:0.2 chr11 118754900 rs580079 C T 0.0 rs DP=379;TI=NM_004397.5;GI=DDX6;FC=Silent;DC=c.1277-13G>A;LO=INTRON;EXON=13 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,379:163/216:0/0,163/216:0:INF chr11 118755506 . T TA 0.0 R8.1;lowQ;NC DP=278;TI=NM_004397.5;GI=DDX6;FC=Noncoding;DC=c.1175-4dupT;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.047:250,13:135/143:121/129,7/6:2:NA chr11 118755506 . TA T 0.0 R8.1;NC DP=278;TI=NM_004397.5;GI=DDX6;FC=Noncoding;DC=c.1175-4delT;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.054:250,15:135/143:121/129,7/8:0:NA chr11 118757295 . C A 0.0 lowQ DP=274;TI=NM_004397.5;GI=DDX6;FC=Silent;DC=c.994-8G>T;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:271,3:137/137:135/136,2/1:3:0.3 chr11 118758904 . T TG 0.0 lowQ;NC DP=780;TI=NM_004397.5;GI=DDX6;FC=Noncoding;DC=c.865-3dupC;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.024:755,19:389/391:373/382,13/6:10:NA chr11 119206522 . GCAC G 0.0 lowQ DP=3226;TI=NM_005188.3;GI=CBL;FC=CODON_DELETION;PC=H42del;DC=c.125_127delACC;LO=EXON;EXON=1;oriDC=c.106_108delCAC;oriPC=H36del;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.026:3136,85:1708/1516:1660/1476,45/40:0:NA chr11 119271770 . A G 0.0 lowQ DP=290;TI=NM_005188.3;GI=CBL;FC=Missense;PC=H160R;DC=c.479A>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:286,4:157/133:155/131,2/2:1:0.1 chr11 119274899 . T C 0.0 lowQ DP=945;TI=NM_005188.3;GI=CBL;FC=Missense;PC=L272S;DC=c.815T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:932,13:477/468:473/459,4/9:8:0.4 chr11 119276144 . T C 0.0 lowQ DP=393;TI=NM_005188.3;GI=CBL;FC=Silent;DC=c.1007+10T>C;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:389,4:177/216:175/214,2/2:1:0.1 chr11 119278540 . C T 0.0 lowQ DP=377;TI=NM_005188.3;GI=CBL;FC=Nonsense;PC=R420*;DC=c.1258C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:373,4:214/163:212/161,2/2:1:0.1 chr11 119278645 . TATG T 0.0 lowQ;Benign DP=523;TI=NM_005188.3;GI=CBL;FC=CODON_DELETION;PC=D460del;DC=c.1380_1382delTGA;LO=EXON;EXON=9;oriDC=c.1364_1366delATG;oriPC=D456del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.015:515,8:267/256:263/252,4/4:0:NA chr11 120407820 . A G 0.0 lowQ DP=339;TI=NM_015313.2;GI=ARHGEF12;FC=Missense;PC=T47A;DC=c.139A>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:335,4:167/172:165/170,2/2:0:0.0 chr11 120421861 rs532006 T A 0.0 rs DP=1069;TI=NM_015313.2;GI=ARHGEF12;FC=Silent;DC=c.348+9T>A;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1069:490/579:0/0,490/579:0:INF chr11 120424345 . C T 0.0 . DP=577;TI=NM_015313.2;GI=ARHGEF12;FC=Silent;DC=c.349-13C>T;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.428:330,247:314/263:182/148,132/115:2:0.0 chr11 120437380 . A G 0.0 lowQ DP=370;TI=NM_015313.2;GI=ARHGEF12;FC=Missense;PC=T333A;DC=c.997A>G;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:366,4:172/198:170/196,2/2:1:0.1 chr11 120441808 . T A 0.0 lowQ DP=198;TI=NM_015313.2;GI=ARHGEF12;FC=Synonymous;PC=P398=;DC=c.1194T>A;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:194,4:93/105:91/103,2/2:0:0.1 chr11 120442195 . G A 0.0 lowQ DP=374;TI=NM_015313.2;GI=ARHGEF12;FC=Missense;PC=R432Q;DC=c.1295G>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:368,4:163/211:160/208,2/2:1:0.1 chr11 120457171 . C T 0.0 lowQ DP=371;TI=NM_015313.2;GI=ARHGEF12;FC=Missense;PC=P704S;DC=c.2110C>T;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:367,4:194/177:192/175,2/2:0:0.0 chr11 120459276 . T G 0.0 lowQ DP=465;TI=NM_015313.2;GI=ARHGEF12;FC=Missense;PC=L828R;DC=c.2483T>G;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:457,6:238/227:234/223,3/3:0:0.0 chr11 120477439 . C A 0.0 sb.s;lowQ DP=122;TI=NM_015313.2;GI=ARHGEF12;FC=Silent;DC=c.3453-8C>A;LO=INTRON;EXON=36 GT:VF:AD:SB:SA:SP:SO 0/1:0.049:116,6:26/96:20/96,6/0:59:INF chr11 120477473 . C A 0.0 sb;lowQ DP=261;TI=NM_015313.2;GI=ARHGEF12;FC=Nonsense;PC=S1160*;DC=c.3479C>A;LO=EXON;EXON=36 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:257,4:114/147:110/147,4/0:17:INF chr11 120479990 . A T 0.0 lowQ DP=309;TI=NM_015313.2;GI=ARHGEF12;FC=Missense;PC=Q1266L;DC=c.3797A>T;LO=EXON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:305,4:175/134:173/132,2/2:1:0.1 chr11 125635482 . G GA 0.0 R8.1;lowQ DP=728;TI=NM_001114122.2;GI=CHEK1;FC=Frameshift;PC=T226fs;DC=c.676dupA;LO=EXON;EXON=7;oriDC=c.668dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.021:709,15:490/238:476/233,12/3:5:NA chr11 125655300 rs506504 A G 0.0 Benign DP=1100;TI=NM_001114122.2;GI=CHEK1;FC=Missense;PC=I471V;DC=c.1411A>G;LO=EXON;EXON=13;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1100:549/551:0/0,549/551:0:INF chr11 128463608 rs2230004 T C 0.0 rs DP=606;TI=NM_001143820.1;GI=ETS1;FC=Synonymous;PC=L381=;DC=c.1143A>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.507:299,307:276/330:135/164,141/166:1:0.0 chr11 128781998 rs35195224 A G 0.0 rs DP=333;TI=NM_002017.4;GI=FLI1;FC=Synonymous;PC=Q210=;DC=c.630A>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.471:176,157:172/161:92/84,80/77:1:0.0 chr11 128805397 rs7113191 T A 0.0 rs DP=541;TI=NM_002017.4;GI=FLI1;FC=Synonymous;PC=A229=;DC=c.687T>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.464:288,251:276/265:145/143,130/121:1:0.0 chr11 128911444 rs6590357 T C 0.0 rs DP=2483;TI=NM_000890.4;GI=KCNJ5;FC=Synonymous;PC=S57=;DC=c.171T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,2481:1242/1241:1/1,1241/1240:0:0.0 chr11 128912083 rs7118824 T G 0.0 rs DP=2301;TI=NM_000890.4;GI=KCNJ5;FC=Synonymous;PC=L270=;DC=c.810T>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:4,2294:1098/1203:2/2,1095/1199:0:0.0 chr11 128912107 rs7118833 T C 0.0 rs DP=2110;TI=NM_000890.4;GI=KCNJ5;FC=Synonymous;PC=H278=;DC=c.834T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2110:1000/1110:0/0,1000/1110:0:INF chr11 128912117 rs7102584 C G 0.0 rs DP=2075;TI=NM_000890.4;GI=KCNJ5;FC=Missense;PC=Q282E;DC=c.844C>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2074:977/1098:0/0,976/1098:0:INF chr11 128912217 rs45516097 C T 0.0 rs DP=1433;TI=NM_000890.4;GI=KCNJ5;FC=Silent;DC=c.937+7C>T;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.472:756,677:610/823:327/429,283/394:2:0.0 chr11 128916399 rs4937391 G A 0.0 rs DP=928;TI=NM_000890.4;GI=KCNJ5;FC=Silent;DC=c.938-10G>A;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,927:538/390:0/0,537/390:0:INF chr11 128916428 rs192889782 G A 0.0 rs DP=1093;TI=NM_000890.4;GI=KCNJ5;FC=Synonymous;PC=R319=;DC=c.957G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.446:606,487:610/483:330/276,280/207:5:0.1 chr12 295572 . C T 0.0 lowQ DP=398;TI=NM_001042603.2;GI=KDM5A;FC=Splicing;DC=c.4455+1G>A;LO=SPLICING;EXON=26 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:394,4:210/188:208/186,2/2:0:0.0 chr12 297126 rs2229351 G A 0.0 rs DP=411;TI=NM_001042603.2;GI=KDM5A;FC=Synonymous;PC=S1383=;DC=c.4149C>T;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.535:191,220:199/212:97/94,102/118:4:0.1 chr12 307786 . C CT 0.0 lowQ DP=785;TI=NM_001042603.2;GI=KDM5A;FC=Frameshift;PC=G1200fs;DC=c.3597dupA;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:763,14:371/414:359/404,8/6:3:NA chr12 307786 . CT C 0.0 lowQ DP=785;TI=NM_001042603.2;GI=KDM5A;FC=Frameshift;PC=G1200fs;DC=c.3597delA;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:763,8:371/414:359/404,4/4:1:NA chr12 318409 rs11062385 A G 0.0 rs DP=374;TI=NM_001042603.2;GI=KDM5A;FC=Missense;PC=M865T;DC=c.2594T>C;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.393:227,147:175/199:108/119,67/80:2:0.0 chr12 323177 . G T 0.0 sb;lowQ DP=237;TI=NM_001042603.2;GI=KDM5A;FC=Missense;PC=S727Y;DC=c.2180C>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:234,3:120/117:120/114,0/3:20:INF chr12 323195 . G A 0.0 lowQ DP=179;TI=NM_001042603.2;GI=KDM5A;FC=Missense;PC=P721L;DC=c.2162C>T;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:176,3:90/89:89/87,1/2:3:0.3 chr12 323208 . TACA T 0.0 sb;NC DP=104;TI=NM_001042603.2;GI=KDM5A;FC=Noncoding;DC=c.2151-5_2151-3delTGT;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.077:96,8:51/53:51/45,0/8:24:NA chr12 323210 . CAAA C 0.0 sb;R8.1;NC DP=77;TI=NM_001042603.2;GI=KDM5A;FC=Noncoding;DC=c.2151-7_2151-5delTTT;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.182:48,14:45/23:26/22,13/1:21:NA chr12 334434 . G GA 0.0 lowQ;NC DP=249;TI=NM_001042603.2;GI=KDM5A;FC=Noncoding;DC=c.1309-13dupT;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:246,3:101/148:100/146,1/2:1:NA chr12 354207 . C G 0.0 lowQ DP=328;TI=NM_001042603.2;GI=KDM5A;FC=Missense;PC=G300R;DC=c.898G>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:324,4:145/183:143/181,2/2:1:0.1 chr12 354239 . T TA 0.0 R8.1;lowQ;NC DP=144;TI=NM_001042603.2;GI=KDM5A;FC=Noncoding;DC=c.871-6dupT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.035:138,5:61/83:59/79,2/3:0:NA chr12 355252 . T C 0.0 lowQ DP=182;TI=NM_001042603.2;GI=KDM5A;FC=Silent;DC=c.779-3A>G;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:178,4:79/103:77/101,2/2:1:0.1 chr12 366042 . A G 0.0 lowQ DP=357;TI=NM_001042603.2;GI=KDM5A;FC=Synonymous;PC=G143=;DC=c.429T>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:353,4:175/182:173/180,2/2:0:0.0 chr12 389081 . A C 0.0 sb.s;Benign DP=1170;TI=NM_001042603.2;GI=KDM5A;FC=Missense;PC=V4G;DC=c.11T>G;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.055:1106,64:846/324:846/260,0/64:200:INF chr12 389101 . CGG C 0.0 R8.1;lowQ;NC DP=1297;TI=NM_001042603.2;GI=KDM5A;FC=UTR;DC=c.-12_-11delCC;LO=5UTR;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.049:205,64:662/634:128/77,41/23:1:NA chr12 389101 . CGGG C 0.0 R8.1;NC DP=1297;TI=NM_001042603.2;GI=KDM5A;FC=UTR;DC=c.-13_-11delCCC;LO=5UTR;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.471:205,611:662/634:128/77,301/310:30:NA chr12 389101 . CGGGG C 0.0 R8.1;NC DP=1297;TI=NM_001042603.2;GI=KDM5A;FC=UTR;DC=c.-14_-11delCCCC;LO=5UTR;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.271:205,352:662/634:128/77,163/189:36:NA chr12 389101 . CGGGGG C 0.0 sb;R8.1;lowQ;NC DP=1297;TI=NM_001042603.2;GI=KDM5A;FC=UTR;DC=c.-15_-11delCCCCC;LO=5UTR;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.038:205,49:662/634:128/77,22/27:16:NA chr12 929812 rs35278212 C CT 0.0 NC;rs DP=1353;TI=NM_134424.3;GI=RAD52;FC=Noncoding;DC=c.348+6_348+7insA;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.491:690,664:746/608:381/309,365/299:0:NA chr12 1112209 . T A 0.0 lowQ DP=197;TI=NM_178040.3;GI=ERC1;FC=Silent;DC=c.1318-6T>A;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.041:188,8:111/86:106/82,4/4:1:0.1 chr12 1112305 . G A 0.0 lowQ DP=248;TI=NM_178040.3;GI=ERC1;FC=Silent;DC=c.1401+7G>A;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:245,3:119/129:117/128,2/1:3:0.3 chr12 4275994 . T A 0.0 sb.s;lowQ DP=1731;TI=NM_001759.3;GI=CCND2;FC=Silent;DC=c.196-11T>A;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.035:1670,61:556/1175:495/1175,61/0:200:INF chr12 4278918 rs3217805 C G 0.0 . DP=4476;TI=NM_001759.3;GI=CCND2;FC=Synonymous;PC=T190=;DC=c.570C>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.490:2282,2192:1970/2506:1008/1274,961/1231:1:0.0 chr12 4444166 rs2241280 A G 0.0 rs DP=761;TI=NM_020996.2;GI=FGF6;FC=Synonymous;PC=V139=;DC=c.417T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.490:388,373:386/375:194/194,192/181:2:0.0 chr12 4444217 rs2241279 A G 0.0 rs DP=729;TI=NM_020996.2;GI=FGF6;FC=Synonymous;PC=T122=;DC=c.366T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:366,361:346/383:170/196,175/186:2:0.0 chr12 4445382 rs7358740 G C 0.0 rs DP=2008;TI=NM_020996.2;GI=FGF6;FC=Synonymous;PC=A63=;DC=c.189C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2008:1003/1005:0/0,1003/1005:0:INF chr12 6581182 rs533921472 G GA 0.0 R8.1;lowQ;NC;rs DP=1070;TI=NM_001273.3;GI=CHD4;FC=Noncoding;DC=c.4780-10dupT;LO=INTRON;EXON=33 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:1028,33:608/462:585/443,17/16:3:NA chr12 6582286 rs7316626 G A 0.0 rs DP=1211;TI=NM_001273.3;GI=CHD4;FC=Silent;DC=c.4371-5C>T;LO=INTRON;EXON=30 GT:VF:AD:SB:SA:SP:SO 0/1:0.493:614,597:540/671:273/341,267/330:0:0.0 chr12 6598360 rs11539543 G A 0.0 rs DP=1876;TI=NM_001273.3;GI=CHD4;FC=Synonymous;PC=P516=;DC=c.1548C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.459:1014,862:893/983:480/534,413/449:1:0.0 chr12 6599893 rs11539542 G A 0.0 rs DP=1697;TI=NM_001273.3;GI=CHD4;FC=Synonymous;PC=V454=;DC=c.1362C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.481:880,817:887/810:455/425,432/385:2:0.0 chr12 6601978 . ATCC A 0.0 lowQ;Benign DP=1771;TI=NM_001273.3;GI=CHD4;FC=CODON_DELETION;PC=E139del;DC=c.417_419delGGA;LO=EXON;EXON=4;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.031:1714,55:935/834:906/808,29/26:0:NA chr12 6601981 rs1639122 C A 0.0 rs DP=1828;TI=NM_001273.3;GI=CHD4;FC=Missense;PC=E139D;DC=c.417G>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.467:916,853:933/836:489/427,444/409:2:0.0 chr12 6602040 . GCTT G 0.0 lowQ;Benign DP=1997;TI=NM_001273.3;GI=CHD4;FC=CODON_DELETION;PC=K119del;DC=c.355_357delAAG;LO=EXON;EXON=4;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.030:1936,60:1050/947:1020/916,30/30:2:NA chr12 6667903 rs3835029 TTGC T 0.0 Benign;rs DP=4110;TI=NM_133476.4;GI=ZNF384;FC=CODON_DELETION;PC=Q454del;DC=c.1359_1361delGCA;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.756:623,3108:2229/1874:438/185,1601/1507:200:NA chr12 6667903 . TTGCTGC T 0.0 sb;Benign DP=3671;TI=NM_133476.4;GI=ZNF384;FC=CODON_DELETION;PC=Q453_Q454del;DC=c.1356_1361delGCAGCA;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.126:3210,461:1883/1788:1644/1566,239/222:0:INF chr12 6678456 rs7964510 C T 0.0 rs DP=1738;TI=NM_133476.4;GI=ZNF384;FC=Synonymous;PC=P119=;DC=c.357G>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.486:894,844:749/989:385/509,364/480:0:0.0 chr12 11839234 rs11611479 G A 0.0 rs DP=2805;TI=NM_001987.4;GI=ETV6;FC=Synonymous;PC=T86=;DC=c.258G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.460:1514,1291:1402/1403:753/761,649/642:1:0.0 chr12 15501656 . T G 0.0 lowQ DP=414;TI=NM_030667.2;GI=PTPRO;FC=Missense;PC=V233G;DC=c.698T>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.046:395,19:217/197:209/186,8/11:4:0.2 chr12 15503898 rs4764199 T A 0.0 rs DP=187;TI=NM_030667.2;GI=PTPRO;FC=Silent;DC=c.1106-10T>A;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.594:76,111:102/85:41/35,61/50:0:0.0 chr12 15516803 rs1050646 T C 0.0 rs DP=415;TI=NM_030667.2;GI=PTPRO;FC=Synonymous;PC=G542=;DC=c.1626T>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.492:211,204:223/192:114/97,109/95:0:0.0 chr12 15526129 . G A 0.0 lowQ DP=245;TI=NM_030667.2;GI=PTPRO;FC=Silent;DC=c.2044-13G>A;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:242,3:142/103:140/102,2/1:1:0.2 chr12 15526186 rs6488782 C A 0.0 rs DP=393;TI=NM_030667.2;GI=PTPRO;FC=Synonymous;PC=G696=;DC=c.2088C>A;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.440:220,173:200/193:112/108,88/85:0:0.0 chr12 15569439 . G C 0.0 lowQ DP=195;TI=NM_030667.2;GI=PTPRO;FC=Missense;PC=D924H;DC=c.2770G>C;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:191,4:102/93:100/91,2/2:0:0.0 chr12 15569459 . G C 0.0 lowQ DP=224;TI=NM_030667.2;GI=PTPRO;FC=Missense;PC=M930I;DC=c.2790G>C;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:221,3:118/106:116/105,2/1:2:0.3 chr12 15580123 . G GA 0.0 R8.1;lowQ;NC DP=238;TI=NM_030667.2;GI=PTPRO;FC=Noncoding;DC=c.2997+18dupA;LO=INTRON;EXON=21;oriDC=c.2997+9dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.029:230,7:117/121:113/117,3/4:1:NA chr12 15587060 . A C 0.0 sb;lowQ DP=237;TI=NM_030667.2;GI=PTPRO;FC=Silent;DC=c.3410+9A>C;LO=INTRON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:234,3:113/124:113/121,0/3:20:INF chr12 18282464 rs35277916 GCCC G 0.0 rs DP=408;TI=NM_004570.5;GI=PIK3C2G;FC=CODON_DELETION;PC=P129del;DC=c.385_387delCCC;LO=EXON;EXON=2;oriDC=c.384_386delCCC GT:VF:AD:SB:SA:SP:SO 0/1:0.468:215,191:197/211:97/118,99/92:8:NA chr12 18282518 rs11044004 C T 0.0 rs DP=391;TI=NM_004570.5;GI=PIK3C2G;FC=Missense;PC=P146L;DC=c.437C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.506:193,198:190/201:90/103,100/98:4:0.1 chr12 18496123 rs12312266 C T 0.0 rs DP=518;TI=NM_004570.5;GI=PIK3C2G;FC=Missense;PC=P911L;DC=c.2732C>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.475:272,246:250/268:131/141,119/127:0:0.0 chr12 18503329 . G A 0.0 lowQ DP=446;TI=NM_004570.5;GI=PIK3C2G;FC=Missense;PC=R981H;DC=c.2942G>A;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:440,6:223/223:220/220,3/3:0:0.0 chr12 18503394 . C T 0.0 lowQ DP=376;TI=NM_004570.5;GI=PIK3C2G;FC=Missense;PC=H1003Y;DC=c.3007C>T;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:372,4:179/197:177/195,2/2:0:0.0 chr12 25209843 rs1137282 A G 0.0 . DP=1144;TI=NM_004985.4;GI=KRAS;FC=Synonymous;PC=D173=;DC=c.519T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.494:579,565:558/586:286/293,272/293:2:0.0 chr12 45851091 . T A 0.0 sb;lowQ DP=4023;TI=NM_152641.3;GI=ARID2;FC=Missense;PC=S990T;DC=c.2968T>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.024:3925,98:2013/2010:1979/1946,34/64:27:0.3 chr12 45852631 . T TA 0.0 sb;RV DP=1845;TI=NM_152641.3;GI=ARID2;FC=Frameshift;PC=R1504fs;DC=c.4508_4509insA;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.061:1733,112:867/978:838/895,29/83:54:NA chr12 45893701 . A G 0.0 lowQ DP=399;TI=NM_152641.3;GI=ARID2;FC=Synonymous;PC=K1781=;DC=c.5343A>G;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:395,4:184/215:182/213,2/2:1:0.1 chr12 47974681 rs17122498 G A 0.0 . DP=346;TI=NM_001844.4;GI=COL2A1;FC=Synonymous;PC=G1356=;DC=c.4068C>T;LO=EXON;EXON=52 GT:VF:AD:SB:SA:SP:SO 0/1:0.474:182,164:203/143:104/78,99/65:3:0.1 chr12 47978750 . A G 0.0 lowQ DP=391;TI=NM_001844.4;GI=COL2A1;FC=Synonymous;PC=P914=;DC=c.2742T>C;LO=EXON;EXON=42 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:387,4:169/222:167/220,2/2:1:0.1 chr12 47980601 . C T 0.0 lowQ DP=345;TI=NM_001844.4;GI=COL2A1;FC=Missense;PC=A860T;DC=c.2578G>A;LO=EXON;EXON=39 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:341,4:172/173:170/171,2/2:0:0.0 chr12 47995300 . C T 0.0 lowQ DP=277;TI=NM_001844.4;GI=COL2A1;FC=Missense;PC=M239I;DC=c.717G>A;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:274,3:138/139:136/138,2/1:3:0.3 chr12 48004297 rs3803183 T A 0.0 Benign DP=171;TI=NM_001844.4;GI=COL2A1;FC=Missense;PC=T9S;DC=c.25A>T;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.421:99,72:83/88:48/51,35/37:0:0.0 chr12 49030383 . T G 0.0 sb.s;lowQ DP=2366;TI=NM_003482.3;GI=KMT2D;FC=Synonymous;PC=P4632=;DC=c.13896A>C;LO=EXON;EXON=42 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:2293,72:1824/541:1804/489,20/52:200:1.0 chr12 49030389 . T G 0.0 sb;lowQ DP=2616;TI=NM_003482.3;GI=KMT2D;FC=Synonymous;PC=P4630=;DC=c.13890A>C;LO=EXON;EXON=42 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:2566,47:1865/748:1850/716,15/32:88:0.7 chr12 49030394 . T G 0.0 sb.s;lowQ;Benign DP=2440;TI=NM_003482.3;GI=KMT2D;FC=Missense;PC=T4629P;DC=c.13885A>C;LO=EXON;EXON=42;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.031:2362,75:1822/617:1808/554,13/62:200:1.2 chr12 49030920 . G A 0.0 . DP=7902;TI=NM_003482.3;GI=KMT2D;FC=Synonymous;PC=S4548=;DC=c.13644C>T;LO=EXON;EXON=40 GT:VF:AD:SB:SA:SP:SO 0/1:0.493:4004,3894:4011/3891:2019/1985,1990/1904:3:0.0 chr12 49032946 . AGCT A 0.0 lowQ;Benign DP=4731;TI=NM_003482.3;GI=KMT2D;FC=CODON_DELETION;PC=Q3919del;DC=c.11756_11758delAGC;LO=EXON;EXON=39;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.018:4628,85:2387/2342:2335/2293,43/42:0:NA chr12 49033122 . TTGC T 0.0 lowQ DP=6070;TI=NM_003482.3;GI=KMT2D;FC=CODON_DELETION;PC=Q3861del;DC=c.11580_11582delGCA;LO=EXON;EXON=39;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.012:5990,70:3146/2924:3106/2884,35/35:1:NA chr12 49033482 . TTGC T 0.0 lowQ;Benign DP=4625;TI=NM_003482.3;GI=KMT2D;FC=CODON_DELETION;PC=Q3741del;DC=c.11220_11222delGCA;LO=EXON;EXON=39;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.023:4505,105:2450/2175:2384/2121,56/49:0:NA chr12 49033869 rs3782357 C T 0.0 . DP=7069;TI=NM_003482.3;GI=KMT2D;FC=Synonymous;PC=Q3612=;DC=c.10836G>A;LO=EXON;EXON=39 GT:VF:AD:SB:SA:SP:SO 0/1:0.496:3561,3504:3509/3557:1781/1780,1727/1777:3:0.0 chr12 49033896 . C T 0.0 lowQ DP=6897;TI=NM_003482.3;GI=KMT2D;FC=Synonymous;PC=Q3603=;DC=c.10809G>A;LO=EXON;EXON=39 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:6821,72:3341/3554:3308/3513,31/41:4:0.1 chr12 49037791 . C G 0.0 . DP=8686;TI=NM_003482.3;GI=KMT2D;FC=Missense;PC=G3189R;DC=c.9565G>C;LO=EXON;EXON=34;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.500:4342,4342:4439/4246:2223/2119,2215/2127:1:0.0 chr12 49040291 rs10747559 C A 0.0 . DP=7506;TI=NM_003482.3;GI=KMT2D;FC=Synonymous;PC=G2493=;DC=c.7479G>T;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.502:3737,3769:3619/3887:1790/1947,1829/1940:2:0.0 chr12 49043970 rs111924728 G A 0.0 . DP=6197;TI=NM_003482.3;GI=KMT2D;FC=Synonymous;PC=G1739=;DC=c.5217C>T;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.483:3204,2993:2941/3256:1515/1689,1426/1567:1:0.0 chr12 49050762 rs2241726 G A 0.0 . DP=9042;TI=NM_003482.3;GI=KMT2D;FC=Synonymous;PC=I942=;DC=c.2826C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.477:4724,4317:4410/4632:2315/2409,2095/2222:2:0.0 chr12 49051729 . G C 0.0 lowQ DP=7195;TI=NM_003482.3;GI=KMT2D;FC=Missense;PC=R652G;DC=c.1954C>G;LO=EXON;EXON=10;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.016:7076,113:5211/1983:5133/1943,75/38:8:0.1 chr12 49052257 rs1064210 C T 0.0 Benign DP=10651;TI=NM_003482.3;GI=KMT2D;FC=Missense;PC=A476T;DC=c.1426G>A;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.496:5361,5286:5207/5442:2624/2737,2582/2704:0:0.0 chr12 50809443 rs4986837 GT G 0.0 NC;rs DP=245;TI=NM_005171.4;GI=ATF1;FC=Noncoding;DC=c.195-5delT;LO=INTRON;EXON=4;oriDC=c.195-12delT GT:VF:AD:SB:SA:SP:SO 0/1:0.441:136,108:145/100:77/59,67/41:4:NA chr12 50809588 rs1129406 C T 0.0 rs DP=446;TI=NM_005171.4;GI=ATF1;FC=Synonymous;PC=Y109=;DC=c.327C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.554:199,247:211/235:92/107,119/128:2:0.0 chr12 50809593 rs4986838 T C 0.0 rs DP=420;TI=NM_005171.4;GI=ATF1;FC=Silent;DC=c.328+4T>C;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.557:186,234:195/225:85/101,110/124:1:0.0 chr12 51992003 . T C 0.0 lowQ DP=510;TI=NM_004302.4;GI=ACVR1B;FC=Silent;DC=c.1392+10T>C;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:504,6:239/271:236/268,3/3:1:0.1 chr12 56083910 rs2271194 A T 0.0 . DP=4994;TI=NM_001982.3;GI=ERBB3;FC=Silent;DC=c.234+8A>T;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.497:2511,2483:2241/2753:1118/1393,1123/1360:2:0.0 chr12 56095789 . T C 0.0 lowQ DP=1505;TI=NM_001982.3;GI=ERBB3;FC=Missense;PC=Y680H;DC=c.2038T>C;LO=EXON;EXON=17;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1487,16:713/792:704/783,8/8:1:0.0 chr12 56100038 rs2292238 A C 0.0 . DP=3591;TI=NM_001982.3;GI=ERBB3;FC=Silent;DC=c.3129+9A>C;LO=INTRON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:1812,1779:1650/1941:835/977,815/964:1:0.0 chr12 56101207 rs2271189 G A 0.0 . DP=3187;TI=NM_001982.3;GI=ERBB3;FC=Synonymous;PC=R1116=;DC=c.3348G>A;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.488:1633,1554:1661/1526:849/784,812/742:1:0.0 chr12 57107722 . G A 0.0 . DP=1664;TI=NM_003153.4;GI=STAT6;FC=Synonymous;PC=D46=;DC=c.138C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.489:851,813:788/876:403/448,385/428:0:0.0 chr12 57465648 rs2228225 G A 0.0 rs DP=1785;TI=NM_005269.2;GI=GLI1;FC=Synonymous;PC=E192=;DC=c.576G>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.490:910,875:991/794:512/398,479/396:3:0.0 chr12 57471538 rs2228224 G A 0.0 rs DP=1847;TI=NM_005269.2;GI=GLI1;FC=Missense;PC=G933D;DC=c.2798G>A;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.455:1004,840:942/905:513/491,427/413:0:0.0 chr12 57472038 rs2228226 G C 0.0 rs DP=1320;TI=NM_005269.2;GI=GLI1;FC=Missense;PC=E1100Q;DC=c.3298G>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.480:686,634:570/750:297/389,273/361:0:0.0 chr12 68835990 . AT A 0.0 lowQ;NC DP=260;TI=NM_002392.5;GI=MDM2;FC=Noncoding;DC=c.840+14delT;LO=INTRON;EXON=9;oriDC=c.840+7delT GT:VF:AD:SB:SA:SP:SO 0/1:0.015:256,4:106/154:104/152,2/2:2:NA chr12 69570321 . C CT 0.0 lowQ;NC DP=280;TI=NM_006654.4;GI=FRS2;FC=Noncoding;DC=c.67-3dupT;LO=INTRON;EXON=7;oriDC=c.67-9dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.018:275,5:152/128:149/126,3/2:1:NA chr12 69571420 . C G 0.0 lowQ DP=510;TI=NM_006654.4;GI=FRS2;FC=Missense;PC=P133R;DC=c.398C>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:501,9:243/267:237/264,6/3:6:0.3 chr12 69574082 rs547497 G A 0.0 rs DP=479;TI=NM_006654.4;GI=FRS2;FC=Synonymous;PC=A218=;DC=c.654G>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.511:234,245:263/216:127/107,136/109:1:0.0 chr12 111446804 rs3184504 T C 0.0 rs DP=1632;TI=NM_005475.2;GI=SH2B3;FC=Missense;PC=W262R;DC=c.784T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1632:836/796:0/0,836/796:0:INF chr12 111447547 . ATGGGG A 0.0 sb;NC DP=750;TI=NM_005475.2;GI=SH2B3;FC=Noncoding;DC=c.1236+24_1236+28delTGGGG;LO=INTRON;EXON=6;oriDC=c.1236+4_1236+8delTGGGG GT:VF:AD:SB:SA:SP:SO 0/1:0.481:389,361:748/2:389/0,359/2:0:INF chr12 112454577 . A T 0.0 sb;RV DP=2591;TI=NM_002834.4;GI=PTPN11;FC=Missense;PC=D180V;DC=c.539A>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.059:2439,152:1307/1284:1215/1224,92/60:20:0.2 chr12 114677650 . G T 0.0 lowQ DP=348;TI=NM_005996.3;GI=TBX3;FC=Missense;PC=Q271K;DC=c.811C>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:344,4:170/178:168/176,2/2:0:0.0 chr12 120994314 . G GC 0.0 lowQ DP=8297;TI=NM_000545.6;GI=HNF1A;FC=Frameshift;PC=G292fs;DC=c.872dupC;LO=EXON;EXON=4;oriDC=c.865dupC;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.022:8066,184:4117/4180:4007/4059,89/95:1:NA chr12 120997462 rs193922579 C T 0.0 . DP=7268;TI=NM_000545.6;GI=HNF1A;FC=Silent;DC=c.1310-12C>T;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.486:3731,3535:3963/3305:2018/1713,1944/1591:4:0.0 chr12 120999579 rs1169305 A G 0.0 Benign DP=8215;TI=NM_000545.6;GI=HNF1A;FC=Missense;PC=S574G;DC=c.1720A>G;LO=EXON;EXON=9;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:4,8209:3935/4278:2/2,3933/4276:0:0.0 chr12 132632393 rs5745022 T C 0.0 . DP=5258;TI=NM_006231.3;GI=POLE;FC=Synonymous;PC=S2084=;DC=c.6252A>G;LO=EXON;EXON=45 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:8,5248:2796/2462:4/4,2791/2457:1:0.1 chr12 132643245 rs5744944 T C 0.0 . DP=7826;TI=NM_006231.3;GI=POLE;FC=Synonymous;PC=A1510=;DC=c.4530A>G;LO=EXON;EXON=35 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:5,7819:4220/3604:2/3,4218/3601:3:0.2 chr12 132659414 rs5744857 C T 0.0 . DP=7776;TI=NM_006231.3;GI=POLE;FC=Synonymous;PC=T1052=;DC=c.3156G>A;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,7775:3565/4211:0/0,3564/4211:0:INF chr12 132661167 . G GA 0.0 sb;R8.1 DP=3315;TI=NM_006231.3;GI=POLE;FC=Noncoding;DC=c.2865-4dupT;LO=INTRON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.083:2446,275:1839/1475:1360/1086,173/102:17:NA chr12 132661167 . G GAA 0.0 sb;R8.1;lowQ DP=3315;TI=NM_006231.3;GI=POLE;FC=Noncoding;DC=c.2865-5_2865-4dupTT;LO=INTRON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:2446,40:1839/1475:1360/1086,30/10:18:NA chr12 132661167 . GA G 0.0 sb;R8.1 DP=3315;TI=NM_006231.3;GI=POLE;FC=Noncoding;DC=c.2865-4delT;LO=INTRON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.119:2446,396:1839/1475:1360/1086,196/200:16:NA chr12 132661167 . GAA G 0.0 R8.1;lowQ DP=3315;TI=NM_006231.3;GI=POLE;FC=Noncoding;DC=c.2865-5_2865-4delTT;LO=INTRON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:2446,107:1839/1475:1360/1086,55/52:4:NA chr12 132661167 . GAAA G 0.0 R8.1;lowQ DP=3315;TI=NM_006231.3;GI=POLE;FC=Noncoding;DC=c.2865-6_2865-4delTTT;LO=INTRON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:2446,35:1839/1475:1360/1086,17/18:4:NA chr13 26337568 . A T 0.0 lowQ DP=281;TI=NM_001260.2;GI=CDK8;FC=Nonsense;PC=K44*;DC=c.130A>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:277,4:152/129:150/127,2/2:1:0.1 chr13 26393409 . CA C 0.0 lowQ DP=136;TI=NM_001260.2;GI=CDK8;FC=Frameshift;PC=E231fs;DC=c.690delA;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:130,4:72/62:70/60,2/2:1:NA chr13 26401471 . CCAG C 0.0 lowQ;Benign DP=594;TI=NM_001260.2;GI=CDK8;FC=CODON_DELETION;PC=Q377del;DC=c.1129_1131delCAG;LO=EXON;EXON=12;oriDC=c.1117_1119delCAG;oriPC=Q373del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.017:584,10:297/297:292/292,5/5:0:NA chr13 26401554 . C T 0.0 lowQ DP=555;TI=NM_001260.2;GI=CDK8;FC=Missense;PC=P400L;DC=c.1199C>T;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:549,6:259/296:256/293,3/3:1:0.1 chr13 27963105 rs1805108 A C 0.0 rs DP=1811;TI=NM_001265.5;GI=CDX2;FC=Silent;DC=c.*10T>G;LO=3UTR;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.602:721,1090:1006/805:396/325,610/480:2:0.0 chr13 27963180 rs1805107 G A 0.0 rs DP=2623;TI=NM_001265.5;GI=CDX2;FC=Missense;PC=P293S;DC=c.877C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.616:1007,1615:1387/1236:523/484,863/752:3:0.0 chr13 28035676 . G GA 0.0 R8.1;lowQ DP=1347;TI=NM_004119.2;GI=FLT3;FC=Noncoding;DC=c.1419-4dupT;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.043:1251,58:628/719:580/671,29/29:2:NA chr13 28035676 . GA G 0.0 R8.1;lowQ DP=1347;TI=NM_004119.2;GI=FLT3;FC=Noncoding;DC=c.1419-4delT;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.024:1251,32:628/719:580/671,15/17:0:NA chr13 28035688 rs2491227 A G 0.0 . DP=1214;TI=NM_004119.2;GI=FLT3;FC=Silent;DC=c.1419-15T>C;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.357:780,433:516/698:340/440,175/258:5:0.1 chr13 28036046 rs2491231 A G 0.0 . DP=1797;TI=NM_004119.2;GI=FLT3;FC=Silent;DC=c.1310-3T>C;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.410:1061,736:844/953:494/567,350/386:2:0.0 chr13 28061947 rs7338903 G A 0.0 . DP=5065;TI=NM_004119.2;GI=FLT3;FC=Synonymous;PC=D96=;DC=c.288C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:4,5058:2591/2474:2/2,2588/2470:0:0.0 chr13 28100491 rs12872889 T C 0.0 Benign DP=4425;TI=NM_004119.2;GI=FLT3;FC=Missense;PC=D7G;DC=c.20A>G;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.615:1703,2722:2175/2250:827/876,1348/1374:3:0.0 chr13 28308924 rs7993418 G A 0.0 . DP=2100;TI=NM_002019.4;GI=FLT1;FC=Synonymous;PC=Y1213=;DC=c.3639C>T;LO=EXON;EXON=28 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2100:1018/1082:0/0,1018/1082:0:INF chr13 28319505 rs2296189 A G 0.0 . DP=2112;TI=NM_002019.4;GI=FLT1;FC=Synonymous;PC=P1068=;DC=c.3204T>C;LO=EXON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.609:824,1286:1010/1102:398/426,611/675:1:0.0 chr13 28390063 . T A 0.0 lowQ DP=2428;TI=NM_002019.4;GI=FLT1;FC=Missense;PC=T568S;DC=c.1702A>T;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:2402,26:1108/1320:1097/1305,11/15:1:0.1 chr13 28405899 rs55955231 T TA 0.0 R8.1;lowQ DP=1087;TI=NM_002019.4;GI=FLT1;FC=Noncoding;DC=c.1437-6dupT;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:1023,35:497/590:470/553,16/19:0:NA chr13 28405899 . TA T 0.0 R8.1;lowQ DP=1087;TI=NM_002019.4;GI=FLT1;FC=Noncoding;DC=c.1437-6delT;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:1023,24:497/590:470/553,9/15:4:NA chr13 32316435 rs1799943 G A 0.0 Benign DP=3601;TI=NM_000059.3;GI=BRCA2;FC=Silent;DC=c.-26G>A;LO=5UTR;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.361:2301,1299:1722/1879:1100/1201,621/678:0:0.0 chr13 32319060 . A AT 0.0 R8.1;lowQ DP=2313;TI=NM_000059.3;GI=BRCA2;FC=Noncoding;DC=c.68-7dupT;LO=INTRON;EXON=3;oriDC=c.68-16dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.016:2247,38:1190/1123:1155/1092,20/18:1:NA chr13 32319060 . AT A 0.0 R8.1;lowQ DP=2313;TI=NM_000059.3;GI=BRCA2;FC=Noncoding;DC=c.68-7delT;LO=INTRON;EXON=3;oriDC=c.68-16delT GT:VF:AD:SB:SA:SP:SO 0/1:0.012:2247,28:1190/1123:1155/1092,15/13:1:NA chr13 32332592 rs144848 A C 0.0 Benign DP=2176;TI=NM_000059.3;GI=BRCA2;FC=Missense;PC=N372H;DC=c.1114A>C;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.625:815,1359:1104/1072:419/396,684/675:2:0.0 chr13 32333398 . C CT 0.0 R8.1 DP=1655;TI=NM_000059.3;GI=BRCA2;FC=Noncoding;DC=c.1909+22dupT;LO=INTRON;EXON=10;oriDC=c.1909+12dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.058:1387,96:882/773:742/645,53/43:1:NA chr13 32333398 . CT C 0.0 R8.1 DP=1655;TI=NM_000059.3;GI=BRCA2;FC=Noncoding;DC=c.1909+22delT;LO=INTRON;EXON=10;oriDC=c.1909+12delT;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.097:1387,160:882/773:742/645,80/80:4:NA chr13 32337751 rs1801406 A G 0.0 . DP=2035;TI=NM_000059.3;GI=BRCA2;FC=Synonymous;PC=K1132=;DC=c.3396A>G;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.374:1272,762:1033/1002:645/627,388/374:0:0.0 chr13 32338918 rs206075 A G 0.0 . DP=2080;TI=NM_000059.3;GI=BRCA2;FC=Synonymous;PC=L1521=;DC=c.4563A>G;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,2078:1087/992:1/0,1086/992:0:INF chr13 32340868 . G C 0.0 . DP=1750;TI=NM_000059.3;GI=BRCA2;FC=Synonymous;PC=V2171=;DC=c.6513G>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,1749:907/843:1/0,906/843:0:INF chr13 32355250 rs169547 T C 0.0 Benign DP=2473;TI=NM_000059.3;GI=BRCA2;FC=Missense;PC=V2466A;DC=c.7397T>C;LO=EXON;EXON=14;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2472:1196/1277:0/0,1196/1276:0:INF chr13 40665906 . T C 0.0 lowQ DP=1432;TI=NM_002015.3;GI=FOXO1;FC=Missense;PC=T103A;DC=c.307A>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1393,19:829/602:818/575,10/9:2:0.1 chr13 40665913 . C G 0.0 lowQ DP=1513;TI=NM_002015.3;GI=FOXO1;FC=Synonymous;PC=A100=;DC=c.300G>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1491,20:836/676:825/666,10/10:2:0.1 chr13 40665916 . G C 0.0 lowQ DP=1686;TI=NM_002015.3;GI=FOXO1;FC=Synonymous;PC=A99=;DC=c.297C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1669,17:821/865:815/854,6/11:6:0.2 chr13 48360004 . A AT 0.0 R8.1;lowQ DP=1657;TI=NM_000321.2;GI=RB1;FC=Noncoding;DC=c.608-4dupT;LO=INTRON;EXON=7;oriDC=c.608-12dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.028:1595,46:901/756:869/726,24/22:1:NA chr13 48465222 . A G 0.0 lowQ DP=2282;TI=NM_000321.2;GI=RB1;FC=Synonymous;PC=P781=;DC=c.2343A>G;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:2220,61:1170/1112:1134/1086,36/25:7:0.1 chr13 71475770 . C A 0.0 lowQ DP=193;TI=NM_080759.5;GI=DACH1;FC=Synonymous;PC=R650=;DC=c.1950G>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:187,6:91/102:88/99,3/3:1:0.1 chr13 71630686 . A T 0.0 lowQ DP=162;TI=NM_080759.5;GI=DACH1;FC=Synonymous;PC=A332=;DC=c.996T>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:159,3:76/86:75/84,1/2:2:0.3 chr13 71866707 . G C 0.0 lowQ DP=1383;TI=NM_080759.5;GI=DACH1;FC=Synonymous;PC=S21=;DC=c.63C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:1360,21:672/711:658/702,13/8:7:0.2 chr13 72759855 . A G 0.0 lowQ DP=726;TI=NM_014953.4;GI=DIS3;FC=Synonymous;PC=T939=;DC=c.2817T>C;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:717,9:366/360:362/355,4/5:1:0.1 chr13 72768901 rs2196979 C T 0.0 rs DP=283;TI=NM_014953.4;GI=DIS3;FC=Synonymous;PC=T589=;DC=c.1767G>A;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,283:133/150:0/0,133/150:0:INF chr13 72771092 . A G 0.0 lowQ DP=554;TI=NM_014953.4;GI=DIS3;FC=Synonymous;PC=C553=;DC=c.1659T>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:547,7:263/291:259/288,4/3:2:0.2 chr13 72775221 rs7332388 G C 0.0 rs DP=447;TI=NM_014953.4;GI=DIS3;FC=Missense;PC=T326R;DC=c.977C>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.644:159,288:234/213:84/75,150/138:1:0.0 chr13 72775941 rs4883918 T C 0.0 rs DP=254;TI=NM_014953.4;GI=DIS3;FC=Missense;PC=N269S;DC=c.806A>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.339:168,86:141/113:93/75,48/38:0:0.0 chr13 72775952 . A G 0.0 lowQ DP=322;TI=NM_014953.4;GI=DIS3;FC=Synonymous;PC=I265=;DC=c.795T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:318,4:181/141:179/139,2/2:1:0.1 chr13 99772843 rs17577293 G T 0.0 rs DP=533;TI=NM_206808.3;GI=CLYBL;FC=Missense;PC=D28Y;DC=c.82G>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.334:355,178:306/227:199/156,107/71:4:0.1 chr13 99864899 . C A 0.0 sb.s;lowQ DP=309;TI=NM_206808.3;GI=CLYBL;FC=Synonymous;PC=R208=;DC=c.622C>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.036:298,11:52/257:41/257,11/0:132:INF chr13 99866326 rs3783185 A G 0.0 rs DP=719;TI=NM_206808.3;GI=CLYBL;FC=Missense;PC=I241V;DC=c.721A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,719:371/348:0/0,371/348:0:INF chr13 101722977 rs574476283 G A 0.0 rs DP=444;TI=NM_175929.2;GI=FGF14;FC=Silent;DC=c.623-10C>T;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.372:279,165:185/259:116/163,69/96:0:0.0 chr13 102852167 rs1047768 T C 0.0 rs DP=586;TI=NM_000123.3;GI=ERCC5;FC=Synonymous;PC=H46=;DC=c.138T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.592:239,347:290/296:117/122,173/174:1:0.0 chr13 102852242 . T A 0.0 lowQ DP=503;TI=NM_000123.3;GI=ERCC5;FC=Synonymous;PC=R71=;DC=c.213T>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:494,7:234/269:230/264,3/4:1:0.1 chr13 102852303 . G A 0.0 lowQ DP=303;TI=NM_000123.3;GI=ERCC5;FC=Silent;DC=c.264+10G>A;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:299,4:131/172:129/170,2/2:1:0.1 chr13 102865838 . A T 0.0 lowQ DP=1102;TI=NM_000123.3;GI=ERCC5;FC=Missense;PC=D709V;DC=c.2126A>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:1077,25:540/562:526/551,14/11:3:0.1 chr13 102872261 . G GA 0.0 R8.1;lowQ DP=775;TI=NM_000123.3;GI=ERCC5;FC=Frameshift;PC=L918fs;DC=c.2751dupA;LO=EXON;EXON=13;oriDC=c.2743dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.017:750,13:403/372:389/361,8/5:3:NA chr13 102872261 . GA G 0.0 R8.1;lowQ DP=775;TI=NM_000123.3;GI=ERCC5;FC=Frameshift;PC=K917fs;DC=c.2751delA;LO=EXON;EXON=13;oriDC=c.2743delA GT:VF:AD:SB:SA:SP:SO 0/1:0.012:750,9:403/372:389/361,4/5:2:NA chr13 102875499 rs9514066 G C 0.0 Benign;rs DP=901;TI=NM_000123.3;GI=ERCC5;FC=Missense;PC=G1053R;DC=c.3157G>C;LO=EXON;EXON=15;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,901:470/431:0/0,470/431:0:INF chr13 102875580 . G C 0.0 Benign DP=796;TI=NM_000123.3;GI=ERCC5;FC=Missense;PC=G1080R;DC=c.3238G>C;LO=EXON;EXON=15;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,796:391/405:0/0,391/405:0:INF chr13 102875798 . T C 0.0 lowQ DP=488;TI=NM_000123.3;GI=ERCC5;FC=Synonymous;PC=D1152=;DC=c.3456T>C;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:480,6:225/261:224/256,1/5:8:0.6 chr13 109782230 . AGCG A 0.0 lowQ DP=1797;TI=NM_003749.2;GI=IRS2;FC=CODON_DELETION;PC=P1274del;DC=c.3821_3823delCGC;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1772,24:847/950:837/935,9/15:5:NA chr13 109782884 rs1805097 C T 0.0 rs DP=1615;TI=NM_003749.2;GI=IRS2;FC=Missense;PC=G1057D;DC=c.3170G>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.352:1047,568:788/827:515/532,273/295:2:0.0 chr13 109783606 rs4773092 A G 0.0 rs DP=1481;TI=NM_003749.2;GI=IRS2;FC=Synonymous;PC=C816=;DC=c.2448T>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.358:950,530:739/742:464/486,275/255:6:0.1 chr13 109783885 rs3742210 G A 0.0 rs DP=1397;TI=NM_003749.2;GI=IRS2;FC=Synonymous;PC=S723=;DC=c.2169C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.383:859,535:738/657:446/413,291/244:4:0.0 chr13 109783949 . ACGG A 0.0 lowQ;Benign DP=1831;TI=NM_003749.2;GI=IRS2;FC=CODON_DELETION;PC=A701del;DC=c.2102_2104delCCG;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.023:1783,43:977/854:954/829,21/22:3:NA chr13 109784351 . T C 0.0 lowQ DP=2047;TI=NM_003749.2;GI=IRS2;FC=Missense;PC=D568G;DC=c.1703A>G;LO=EXON;EXON=1;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.015:2017,30:975/1072:964/1053,11/19:6:0.2 chr13 109784357 . T A 0.0 lowQ DP=1974;TI=NM_003749.2;GI=IRS2;FC=Missense;PC=D566V;DC=c.1697A>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:1944,30:937/1037:927/1017,10/20:9:0.3 chr13 109785969 . GGTT G 0.0 lowQ;Benign DP=2113;TI=NM_003749.2;GI=IRS2;FC=CODON_DELETION;PC=N28del;DC=c.82_84delAAC;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.025:2054,52:909/1203:880/1174,26/26:5:NA chr13 113233887 rs2146408 T C 0.0 rs DP=1886;TI=NM_001278513.2;GI=CUL4A;FC=Silent;DC=c.376-10T>C;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:0.995:7,1877:1019/867:3/4,1015/862:3:0.2 chr14 20350617 . G C 0.0 lowQ DP=375;TI=NM_005484.3;GI=PARP2;FC=Missense;PC=G152A;DC=c.455G>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:370,4:182/193:180/190,2/2:0:0.0 chr14 20350622 . G C 0.0 lowQ DP=350;TI=NM_005484.3;GI=PARP2;FC=Missense;PC=V154L;DC=c.460G>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:342,8:169/181:165/177,4/4:0:0.0 chr14 20356022 rs3093930 T C 0.0 rs DP=383;TI=NM_005484.3;GI=PARP2;FC=Synonymous;PC=Y377=;DC=c.1131T>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,383:177/206:0/0,177/206:0:INF chr14 23308042 . A G 0.0 lowQ DP=2120;TI=NM_004050.4;GI=BCL2L2;FC=Missense;PC=N92S;DC=c.275A>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:2095,24:1172/948:1161/934,11/13:5:0.2 chr14 23308051 . G C 0.0 lowQ DP=2312;TI=NM_004050.4;GI=BCL2L2;FC=Missense;PC=R95P;DC=c.284G>C;LO=EXON;EXON=3;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.013:2282,29:1216/1096:1201/1081,15/14:0:0.0 chr14 23308165 . A G 0.0 Benign DP=2768;TI=NM_004050.4;GI=BCL2L2;FC=Missense;PC=Q133R;DC=c.398A>G;LO=EXON;EXON=3;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,2764:1356/1412:1/1,1354/1410:0:0.0 chr14 24408167 . T G 0.0 lowQ DP=618;TI=NM_025081.2;GI=NYNRIN;FC=Missense;PC=L166R;DC=c.497T>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:610,8:309/309:304/306,5/3:3:0.2 chr14 24414681 rs8017377 G A 0.0 Benign DP=648;TI=NM_025081.2;GI=NYNRIN;FC=Missense;PC=A978T;DC=c.2932G>A;LO=EXON;EXON=9;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.489:331,317:347/301:175/156,172/145:1:0.0 chr14 24415069 . C G 0.0 lowQ DP=447;TI=NM_025081.2;GI=NYNRIN;FC=Missense;PC=A1107G;DC=c.3320C>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:442,5:230/217:228/214,2/3:2:0.2 chr14 24416524 . G C 0.0 lowQ DP=357;TI=NM_025081.2;GI=NYNRIN;FC=Missense;PC=R1592P;DC=c.4775G>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:353,4:184/173:182/171,2/2:0:0.0 chr14 29578374 rs2273815 C T 0.0 . DP=133;TI=NM_002742.2;GI=PRKD1;FC=Silent;DC=c.2435-14G>A;LO=INTRON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.504:66,67:61/72:29/37,32/35:2:0.1 chr14 29597723 rs2230505 A G 0.0 . DP=193;TI=NM_002742.2;GI=PRKD1;FC=Synonymous;PC=I734=;DC=c.2202T>C;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.487:99,94:94/99:48/51,46/48:0:0.0 chr14 29597770 rs3783299 A T 0.0 . DP=134;TI=NM_002742.2;GI=PRKD1;FC=Silent;DC=c.2167-12T>A;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.478:70,64:54/80:29/41,25/39:1:0.0 chr14 29630894 . A T 0.0 lowQ DP=299;TI=NM_002742.2;GI=PRKD1;FC=Missense;PC=V507E;DC=c.1520T>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:294,3:143/156:141/153,1/2:2:0.3 chr14 29638877 . C A 0.0 sb.s;lowQ;Benign DP=67;TI=NM_002742.2;GI=PRKD1;FC=Missense;PC=G242C;DC=c.724G>T;LO=EXON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.045:64,3:55/12:55/9,0/3:38:INF chr14 29927416 rs45471692 G GCCCGGA 0.0 sb;Benign DP=619;TI=NM_002742.2;GI=PRKD1;FC=CODON_INSERTION;PC=S31_G32dup;DC=c.91_96dupTCCGGG;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.515:300,319:302/318:147/153,155/165:0:INF chr14 29927422 . A G 0.0 lowQ DP=608;TI=NM_002742.2;GI=PRKD1;FC=Missense;PC=S31P;DC=c.91T>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:600,8:257/351:253/347,4/4:2:0.1 chr14 35402011 rs8904 G A 0.0 Benign DP=998;TI=NM_020529.2;GI=NFKBIA;FC=Splicing;DC=c.*2C>T;LO=3UTR;EXON=6;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.456:543,455:542/456:293/250,249/206:1:0.0 chr14 35404564 rs1957106 G A 0.0 . DP=5981;TI=NM_020529.2;GI=NFKBIA;FC=Synonymous;PC=D27=;DC=c.81C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.484:3084,2894:3116/2865:1610/1474,1504/1390:1:0.0 chr14 36519179 . T G 0.0 lowQ;Benign DP=1053;TI=NM_003317.3;GI=NKX2-1;FC=Missense;PC=H60P;DC=c.179A>C;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.014:1038,15:543/510:536/502,7/8:2:0.1 chr14 36519182 . C A 0.0 lowQ DP=1096;TI=NM_003317.3;GI=NKX2-1;FC=Missense;PC=G59V;DC=c.176G>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:1081,15:550/546:543/538,7/8:1:0.1 chr14 37591441 rs33984772 C T 0.0 Benign DP=7634;TI=NM_004496.3;GI=FOXA1;FC=Missense;PC=S448N;DC=c.1343G>A;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:4,7629:4158/3476:2/2,4155/3474:1:0.1 chr14 45140616 . CT C 0.0 R8.1;lowQ DP=746;TI=NM_020937.3;GI=FANCM;FC=Noncoding;DC=c.682-7delT;LO=INTRON;EXON=3;oriDC=c.682-15delT GT:VF:AD:SB:SA:SP:SO 0/1:0.012:730,9:409/337:401/329,5/4:0:NA chr14 45159080 rs112326758 TTA T 0.0 lowQ;Benign DP=81;TI=NM_020937.3;GI=FANCM;FC=Splicing;DC=c.1397-3_1397-2delTA;LO=INTRON;EXON=9;oriDC=c.1397-15_1397-14delTA;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.049:75,4:40/41:37/38,2/2:0:NA chr14 45198634 . G T 0.0 lowQ DP=477;TI=NM_020937.3;GI=FANCM;FC=Silent;DC=c.5717-10G>T;LO=INTRON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:472,5:287/190:284/188,3/2:0:0.0 chr14 50739303 rs3015485 A G 0.0 rs DP=481;TI=NM_182946.1;GI=NIN;FC=Silent;DC=c.5628+5T>C;LO=INTRON;EXON=26 GT:VF:AD:SB:SA:SP:SO 1/1:0.990:2,476:265/216:1/1,263/213:0:0.1 chr14 50741606 . C T 0.0 lowQ DP=339;TI=NM_182946.1;GI=NIN;FC=Synonymous;PC=K1808=;DC=c.5424G>A;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:335,4:184/155:182/153,2/2:1:0.1 chr14 50752627 . A C 0.0 lowQ DP=384;TI=NM_182946.1;GI=NIN;FC=Missense;PC=L1614R;DC=c.4841T>G;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:372,11:177/207:172/200,5/6:0:0.0 chr14 50754734 . C T 0.0 lowQ DP=307;TI=NM_182946.1;GI=NIN;FC=Silent;DC=c.4664+8G>A;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:303,4:153/154:151/152,2/2:0:0.0 chr14 50754880 . G T 0.0 lowQ DP=233;TI=NM_182946.1;GI=NIN;FC=Silent;DC=c.4539-13C>A;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:229,4:110/123:108/121,2/2:0:0.0 chr14 50756527 . C T 0.0 lowQ DP=240;TI=NM_182946.1;GI=NIN;FC=Synonymous;PC=T1501=;DC=c.4503G>A;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:236,4:128/112:126/110,2/2:0:0.1 chr14 50757071 rs2073347 C T 0.0 rs DP=261;TI=NM_182946.1;GI=NIN;FC=Missense;PC=G1320E;DC=c.3959G>A;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,261:124/137:0/0,124/137:0:INF chr14 50757656 rs12882191 T G 0.0 rs DP=535;TI=NM_182946.1;GI=NIN;FC=Missense;PC=Q1125P;DC=c.3374A>C;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 1/1:0.996:1,533:267/268:0/1,266/267:0:INF chr14 50757699 rs2236316 G C 0.0 rs DP=490;TI=NM_182946.1;GI=NIN;FC=Missense;PC=P1111A;DC=c.3331C>G;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.496:247,243:258/232:132/115,126/117:1:0.0 chr14 50757940 rs2073348 T A 0.0 rs DP=867;TI=NM_182946.1;GI=NIN;FC=Synonymous;PC=S1030=;DC=c.3090A>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.526:411,456:442/425:210/201,232/224:0:0.0 chr14 50758414 rs2073349 G T 0.0 rs DP=1162;TI=NM_182946.1;GI=NIN;FC=Synonymous;PC=A872=;DC=c.2616C>A;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.463:624,538:568/594:306/318,262/276:0:0.0 chr14 50760012 rs200278498 G A 0.0 rs DP=1469;TI=NM_182946.1;GI=NIN;FC=Synonymous;PC=S748=;DC=c.2244C>T;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:742,727:699/770:356/386,343/384:1:0.0 chr14 50770983 rs17793018 A G 0.0 rs DP=1208;TI=NM_182946.1;GI=NIN;FC=Synonymous;PC=V376=;DC=c.1128T>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.521:579,629:527/681:256/323,271/358:2:0.0 chr14 50772349 rs8020503 C G 0.0 rs DP=708;TI=NM_182946.1;GI=NIN;FC=Synonymous;PC=L311=;DC=c.933G>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,708:377/331:0/0,377/331:0:INF chr14 61322474 rs79204130 G A 0.0 rs DP=1195;TI=NM_006255.4;GI=PRKCH;FC=Silent;DC=c.363+10G>A;LO=INTRON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.461:644,551:527/668:287/357,240/311:1:0.0 chr14 61530508 rs1088680 C T 0.0 rs DP=1136;TI=NM_006255.4;GI=PRKCH;FC=Synonymous;PC=N558=;DC=c.1674C>T;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.399:681,453:564/572:339/342,224/229:0:0.0 chr14 61549669 . CT C 0.0 R8.1;NC DP=351;TI=NM_006255.4;GI=PRKCH;FC=Noncoding;DC=c.1906-6delT;LO=INTRON;EXON=14;oriDC=c.1906-15delT GT:VF:AD:SB:SA:SP:SO 0/1:0.063:304,22:197/154:169/135,14/8:3:NA chr14 61726776 . T C 0.0 lowQ DP=377;TI=NM_001530.3;GI=HIF1A;FC=Synonymous;PC=T176=;DC=c.528T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:373,4:180/197:178/195,2/2:0:0.0 chr14 65101586 . G GA 0.0 R8.1 DP=1145;TI=NM_002382.4;GI=MAX;FC=Noncoding;DC=c.37-15dupT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.059:1023,67:660/481:591/432,39/28:0:NA chr14 65101586 . GA G 0.0 R8.1;lowQ DP=1145;TI=NM_002382.4;GI=MAX;FC=Noncoding;DC=c.37-15delT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.042:1023,48:660/481:591/432,27/21:1:NA chr14 75047125 rs175080 G A 0.0 Benign DP=1544;TI=NM_001040108.1;GI=MLH3;FC=Missense;PC=P844L;DC=c.2531C>T;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1542:845/697:0/0,845/697:0:INF chr14 75047180 rs175081 T C 0.0 Benign DP=1802;TI=NM_001040108.1;GI=MLH3;FC=Missense;PC=N826D;DC=c.2476A>G;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,1801:898/904:1/0,897/904:0:INF chr14 75047523 . A G 0.0 lowQ DP=1761;TI=NM_001040108.1;GI=MLH3;FC=Synonymous;PC=S711=;DC=c.2133T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:1717,44:886/875:870/847,16/28:12:0.3 chr14 75047855 . C G 0.0 lowQ DP=1510;TI=NM_001040108.1;GI=MLH3;FC=Missense;PC=V601L;DC=c.1801G>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1494,16:754/756:743/751,11/5:9:0.3 chr14 75047900 . C CT 0.0 R8.1;lowQ DP=1456;TI=NM_001040108.1;GI=MLH3;FC=Frameshift;PC=E586fs;DC=c.1755dupA;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:1404,29:732/724:705/699,15/14:1:NA chr14 75047900 . CT C 0.0 R8.1;lowQ DP=1456;TI=NM_001040108.1;GI=MLH3;FC=Frameshift;PC=E586fs;DC=c.1755delA;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:1404,21:732/724:705/699,11/10:1:NA chr14 75049041 . T G 0.0 sb;lowQ DP=1467;TI=NM_001040108.1;GI=MLH3;FC=Missense;PC=K205N;DC=c.615A>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.028:1426,41:776/691:747/679,29/12:17:0.3 chr14 81092558 . G A 0.0 lowQ DP=196;TI=NM_000369.2;GI=TSHR;FC=Synonymous;PC=T165=;DC=c.495G>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:192,4:95/101:93/99,2/2:0:0.0 chr14 81096654 rs2075179 T C 0.0 rs DP=762;TI=NM_000369.2;GI=TSHR;FC=Synonymous;PC=N187=;DC=c.561T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.512:372,390:396/366:194/178,202/188:0:0.0 chr14 81144239 rs1991517 G C 0.0 rs DP=750;TI=NM_000369.2;GI=TSHR;FC=Missense;PC=E727D;DC=c.2181G>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.505:371,379:362/388:182/189,180/199:2:0.0 chr14 95090581 . T G 0.0 lowQ DP=1693;TI=NM_177438.2;GI=DICER1;FC=Missense;PC=S1896R;DC=c.5686A>C;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:1638,55:874/819:844/794,30/25:2:0.1 chr14 95099771 rs1778057 C A 0.0 . DP=987;TI=NM_177438.2;GI=DICER1;FC=Silent;DC=c.4206+9G>T;LO=INTRON;EXON=22 GT:VF:AD:SB:SA:SP:SO 1/1:0.984:10,971:560/425:6/4,552/419:1:0.1 chr14 95116698 rs546524688 G GA 0.0 R8.1;lowQ DP=736;TI=NM_177438.2;GI=DICER1;FC=Noncoding;DC=c.1510-4dupT;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.039:687,29:360/375:337/350,15/14:1:NA chr14 95116698 . GA G 0.0 R8.1;lowQ DP=736;TI=NM_177438.2;GI=DICER1;FC=Noncoding;DC=c.1510-4delT;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:687,17:360/375:337/350,7/10:3:NA chr14 95124672 . C CA 0.0 lowQ;Benign DP=777;TI=NM_177438.2;GI=DICER1;FC=Noncoding;DC=c.904-5dupT;LO=INTRON;EXON=8;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.010:761,8:342/435:334/427,4/4:1:NA chr14 95124672 . CA C 0.0 lowQ;Benign DP=777;TI=NM_177438.2;GI=DICER1;FC=Noncoding;DC=c.904-5delT;LO=INTRON;EXON=8;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.010:761,8:342/435:334/427,4/4:1:NA chr14 99174479 . C G 0.0 lowQ DP=1073;TI=NM_138576.3;GI=BCL11B;FC=Missense;PC=R786P;DC=c.2357G>C;LO=EXON;EXON=4;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1061,12:576/497:570/491,6/6:1:0.1 chr14 99174487 . G C 0.0 lowQ DP=1190;TI=NM_138576.3;GI=BCL11B;FC=Synonymous;PC=G783=;DC=c.2349C>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1174,16:637/553:629/545,8/8:1:0.1 chr14 99174495 . C G 0.0 lowQ DP=1230;TI=NM_138576.3;GI=BCL11B;FC=Missense;PC=G781R;DC=c.2341G>C;LO=EXON;EXON=4;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.014:1211,17:659/571:650/561,8/9:2:0.1 chr14 99175206 . GCTC G 0.0 Benign DP=1837;TI=NM_138576.3;GI=BCL11B;FC=CODON_DELETION;PC=E543del;DC=c.1627_1629delGAG;LO=EXON;EXON=4;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.053:1729,97:847/990:799/930,43/54:1:NA chr14 99176023 rs1152783 C G 0.0 rs DP=953;TI=NM_138576.3;GI=BCL11B;FC=Synonymous;PC=P271=;DC=c.813G>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.504:472,480:504/449:249/223,254/226:0:0.0 chr14 102081738 . T C 0.0 lowQ DP=260;TI=NM_001017963.2;GI=HSP90AA1;FC=Missense;PC=T847A;DC=c.2539A>G;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:256,4:138/122:136/120,2/2:0:0.1 chr14 102081754 . A G 0.0 lowQ DP=314;TI=NM_001017963.2;GI=HSP90AA1;FC=Synonymous;PC=L841=;DC=c.2523T>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:310,4:166/148:164/146,2/2:0:0.1 chr14 102083053 . A G 0.0 lowQ DP=728;TI=NM_001017963.2;GI=HSP90AA1;FC=Missense;PC=L701S;DC=c.2102T>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:715,13:374/354:367/348,7/6:1:0.0 chr14 102083057 . T C 0.0 lowQ DP=723;TI=NM_001017963.2;GI=HSP90AA1;FC=Missense;PC=I700V;DC=c.2098A>G;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:714,9:369/354:364/350,5/4:1:0.1 chr14 102083173 . T G 0.0 lowQ;FP DP=571;TI=NM_001017963.2;GI=HSP90AA1;FC=Missense;PC=K661T;DC=c.1982A>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:564,7:288/283:284/280,4/3:1:0.1 chr14 102083704 . G T 0.0 sb.s;lowQ DP=163;TI=NM_001017963.2;GI=HSP90AA1;FC=Silent;DC=c.1705-11C>A;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:158,5:99/64:99/59,0/5:23:INF chr14 102084466 rs4947 G A 0.0 rs DP=401;TI=NM_001017963.2;GI=HSP90AA1;FC=Synonymous;PC=N482=;DC=c.1446C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,401:196/205:0/0,196/205:0:INF chr14 102084507 . C T 0.0 lowQ DP=301;TI=NM_001017963.2;GI=HSP90AA1;FC=Missense;PC=A469T;DC=c.1405G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:297,4:137/164:135/162,2/2:1:0.1 chr14 102084741 . C G 0.0 lowQ DP=494;TI=NM_001017963.2;GI=HSP90AA1;FC=Missense;PC=E429D;DC=c.1287G>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:485,9:255/239:250/235,5/4:1:0.1 chr14 102084753 . A G 0.0 lowQ DP=567;TI=NM_001017963.2;GI=HSP90AA1;FC=Synonymous;PC=D425=;DC=c.1275T>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:558,9:296/271:290/268,6/3:4:0.3 chr14 102084758 . C CG 0.0 lowQ DP=817;TI=NM_001017963.2;GI=HSP90AA1;FC=Frameshift;PC=D424fs;DC=c.1269dupC;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:804,10:428/389:420/384,6/4:2:NA chr14 102084759 . G GT 0.0 lowQ DP=831;TI=NM_001017963.2;GI=HSP90AA1;FC=Frameshift;PC=D424fs;DC=c.1268_1269insA;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:809,12:437/391:426/383,7/5:2:NA chr14 102084762 . A G 0.0 lowQ DP=857;TI=NM_001017963.2;GI=HSP90AA1;FC=Synonymous;PC=N422=;DC=c.1266T>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.041:793,35:448/401:416/377,20/15:2:0.1 chr14 102084762 . A T 0.0 lowQ DP=857;TI=NM_001017963.2;GI=HSP90AA1;FC=Missense;PC=N422K;DC=c.1266T>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:793,16:448/401:416/377,9/7:1:0.1 chr14 102084791 . T C 0.0 lowQ DP=997;TI=NM_001017963.2;GI=HSP90AA1;FC=Missense;PC=N413D;DC=c.1237A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:975,22:508/489:497/478,11/11:0:0.0 chr14 102084809 . T C 0.0 lowQ DP=1044;TI=NM_001017963.2;GI=HSP90AA1;FC=Missense;PC=I407V;DC=c.1219A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:1027,17:519/525:511/516,8/9:1:0.0 chr14 102084823 . ATCT A 0.0 lowQ;Benign DP=1025;TI=NM_001017963.2;GI=HSP90AA1;FC=CODON_DELETION;PC=K401del;DC=c.1202_1204delAGA;LO=EXON;EXON=6;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.019:1004,19:498/527:488/516,9/10:0:NA chr14 102101959 rs10873531 G A 0.0 rs DP=864;TI=NM_001017963.2;GI=HSP90AA1;FC=Synonymous;PC=T94=;DC=c.282C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,864:452/412:0/0,452/412:0:INF chr14 102102030 rs8005905 T A 0.0 rs DP=869;TI=NM_001017963.2;GI=HSP90AA1;FC=Missense;PC=M71L;DC=c.211A>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:1,867:433/436:1/0,431/436:0:INF chr14 102905766 rs148195281 G A 0.0 rs DP=1075;TI=NM_145725.2;GI=TRAF3;FC=Synonymous;PC=S563=;DC=c.1689G>A;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.461:579,496:495/580:270/309,225/271:2:0.0 chr14 103699416 rs861539 G A 0.0 rs DP=2118;TI=NM_005432.3;GI=XRCC3;FC=Missense;PC=T241M;DC=c.722C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.476:1109,1009:1134/984:595/514,539/470:0:0.0 chr14 104773557 rs1130233 C T 0.0 sb DP=7869;TI=NM_005163.2;GI=AKT1;FC=Synonymous;PC=E242=;DC=c.726G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.433:4452,3411:3883/3984:2137/2315,1745/1666:23:0.1 chr15 32701800 rs16969862 A G 0.0 rs DP=726 GT:VF:AD:SB:SA:SP:SO 0/1:0.483:375,351:330/396:172/203,158/193:1:0.0 chr15 32701855 rs12591992 A G 0.0 rs DP=536 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,536:230/306:0/0,230/306:0:INF chr15 32709533 rs58658771 T A 0.0 rs DP=303 GT:VF:AD:SB:SA:SP:SO 0/1:0.498:152,151:138/165:67/85,71/80:2:0.1 chr15 34348017 rs374230 C T 0.0 rs DP=1978;TI=NM_175741.2;GI=NUTM1;FC=Missense;PC=P22L;DC=c.65C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:1,1975:1122/856:0/1,1121/854:0:INF chr15 34348177 rs430083 T C 0.0 rs DP=2190;TI=NM_175741.2;GI=NUTM1;FC=Synonymous;PC=D75=;DC=c.225T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,2188:1085/1104:0/0,1084/1104:0:INF chr15 38322324 rs7182445 G A 0.0 rs DP=393;TI=NM_152594.2;GI=SPRED1;FC=Synonymous;PC=K97=;DC=c.291G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,393:199/194:0/0,199/194:0:INF chr15 38339729 rs7180446 C A 0.0 rs DP=332;TI=NM_152594.2;GI=SPRED1;FC=Silent;DC=c.424-8C>A;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,332:177/155:0/0,177/155:0:INF chr15 38351243 . C A 0.0 lowQ DP=370;TI=NM_152594.2;GI=SPRED1;FC=Missense;PC=P305H;DC=c.914C>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:366,4:193/177:191/175,2/2:0:0.0 chr15 38351373 rs3751526 T C 0.0 rs DP=404;TI=NM_152594.2;GI=SPRED1;FC=Synonymous;PC=V348=;DC=c.1044T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,404:201/203:0/0,201/203:0:INF chr15 38351432 . G A 0.0 lowQ DP=380;TI=NM_152594.2;GI=SPRED1;FC=Missense;PC=C368Y;DC=c.1103G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:376,4:193/187:191/185,2/2:0:0.0 chr15 38351441 . G C 0.0 lowQ DP=399;TI=NM_152594.2;GI=SPRED1;FC=Missense;PC=C371S;DC=c.1112G>C;LO=EXON;EXON=7;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.018:392,7:203/196:199/193,4/3:1:0.1 chr15 38351446 . G C 0.0 lowQ DP=389;TI=NM_152594.2;GI=SPRED1;FC=Missense;PC=E373Q;DC=c.1117G>C;LO=EXON;EXON=7;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.018:382,7:198/191:194/188,4/3:1:0.1 chr15 40176666 . C A 0.0 lowQ DP=237;TI=NM_001211.5;GI=BUB1B;FC=Missense;PC=Q192K;DC=c.574C>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:234,3:98/139:96/138,2/1:4:0.5 chr15 40185630 rs1801376 G A 0.0 rs DP=572;TI=NM_001211.5;GI=BUB1B;FC=Missense;PC=R349Q;DC=c.1046G>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.479:298,274:282/290:150/148,132/142:2:0.0 chr15 40196650 rs1047130 G A 0.0 rs DP=412;TI=NM_001211.5;GI=BUB1B;FC=Synonymous;PC=A388=;DC=c.1164G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.512:201,211:217/195:106/95,111/100:0:0.0 chr15 40728718 . C T 0.0 sb;lowQ DP=405;TI=NM_002875.4;GI=RAD51;FC=Missense;PC=L180F;DC=c.538C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:400,5:212/193:212/188,0/5:17:INF chr15 40728726 . C T 0.0 lowQ DP=441;TI=NM_002875.4;GI=RAD51;FC=Synonymous;PC=G182=;DC=c.546C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:435,6:234/207:231/204,3/3:1:0.1 chr15 41511841 . G C 0.0 sb.s;lowQ DP=1083;TI=NM_002344.5;GI=LTK;FC=Synonymous;PC=G211=;DC=c.633C>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.037:1041,40:179/903:139/902,40/0:200:INF chr15 41565018 rs11639399 G A 0.0 rs DP=1148;TI=NM_006293.3;GI=TYRO3;FC=Silent;DC=c.668-8G>A;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.477:600,548:623/525:322/278,301/247:2:0.0 chr15 41568213 rs7171675 G A 0.0 rs DP=1794;TI=NM_006293.3;GI=TYRO3;FC=Silent;DC=c.962-4G>A;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.496:905,889:980/814:491/414,489/400:1:0.0 chr15 41568292 rs12148316 T A 0.0 rs DP=2190;TI=NM_006293.3;GI=TYRO3;FC=Missense;PC=I346N;DC=c.1037T>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.501:1089,1098:1047/1143:516/573,529/569:1:0.0 chr15 41669815 . G T 0.0 lowQ DP=374;TI=NM_001164273.1;GI=MGA;FC=Missense;PC=L307F;DC=c.921G>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:369,5:188/186:186/183,2/3:2:0.2 chr15 41696172 . G A 0.0 lowQ DP=400;TI=NM_001164273.1;GI=MGA;FC=Missense;PC=D388N;DC=c.1162G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:396,4:209/191:207/189,2/2:0:0.0 chr15 41696493 . C T 0.0 lowQ DP=205;TI=NM_001164273.1;GI=MGA;FC=Nonsense;PC=R495*;DC=c.1483C>T;LO=EXON;EXON=3;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.015:202,3:102/103:100/102,2/1:3:0.3 chr15 41696713 . A T 0.0 lowQ DP=351;TI=NM_001164273.1;GI=MGA;FC=Missense;PC=D568V;DC=c.1703A>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:347,4:181/170:179/168,2/2:0:0.0 chr15 41699117 rs2178004 A T 0.0 Benign DP=469;TI=NM_001164273.1;GI=MGA;FC=Missense;PC=T716S;DC=c.2146A>T;LO=EXON;EXON=5;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,469:228/241:0/0,228/241:0:INF chr15 41713214 . G A 0.0 lowQ DP=307;TI=NM_001164273.1;GI=MGA;FC=Missense;PC=D1050N;DC=c.3148G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:303,4:157/150:155/148,2/2:0:0.0 chr15 41734566 rs1918314 C T 0.0 . DP=698;TI=NM_001164273.1;GI=MGA;FC=Synonymous;PC=D1296=;DC=c.3888C>T;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.474:367,331:334/364:181/186,153/178:4:0.1 chr15 41742770 . G A 0.0 lowQ DP=386;TI=NM_001164273.1;GI=MGA;FC=Missense;PC=V1604M;DC=c.4810G>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:382,4:187/199:185/197,2/2:0:0.0 chr15 41749514 rs2695163 G A 0.0 . DP=513;TI=NM_001164273.1;GI=MGA;FC=Synonymous;PC=K1969=;DC=c.5907G>A;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.499:257,256:260/253:131/126,129/127:0:0.0 chr15 41749525 rs61757234 A G 0.0 Benign DP=537;TI=NM_001164273.1;GI=MGA;FC=Missense;PC=Q1973R;DC=c.5918A>G;LO=EXON;EXON=17;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.495:271,266:274/263:137/134,137/129:1:0.0 chr15 41750196 . G A 0.0 lowQ DP=396;TI=NM_001164273.1;GI=MGA;FC=Missense;PC=A2197T;DC=c.6589G>A;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:390,4:205/191:202/188,2/2:0:0.0 chr15 41750198 . A G 0.0 lowQ DP=393;TI=NM_001164273.1;GI=MGA;FC=Synonymous;PC=A2197=;DC=c.6591A>G;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:385,4:204/187:201/184,2/2:0:0.0 chr15 41761805 . A G 0.0 lowQ DP=332;TI=NM_001164273.1;GI=MGA;FC=Missense;PC=T2489A;DC=c.7465A>G;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:327,5:166/166:164/163,2/3:2:0.2 chr15 41767128 . C G 0.0 lowQ DP=583;TI=NM_001164273.1;GI=MGA;FC=Missense;PC=P3016A;DC=c.9046C>G;LO=EXON;EXON=24;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.010:577,6:284/299:281/296,3/3:0:0.0 chr15 41767135 . C G 0.0 lowQ DP=579;TI=NM_001164273.1;GI=MGA;FC=Missense;PC=A3018G;DC=c.9053C>G;LO=EXON;EXON=24;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.012:572,7:281/298:278/294,3/4:1:0.1 chr15 44715702 . G A 0.0 lowQ DP=337;TI=NM_004048.2;GI=B2M;FC=Splicing;DC=c.346+1G>A;LO=SPLICING;EXON=2;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.012:331,4:154/183:153/178,0/4:12:INF chr15 55418276 . A G 0.0 lowQ DP=223;TI=NM_001198784.1;GI=C15orf65;FC=Synonymous;PC=Q24=;DC=c.72A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:220,3:118/105:116/104,2/1:2:0.3 chr15 73994891 . G C 0.0 sb.s;lowQ DP=1021;TI=NM_033238.2;GI=PML;FC=Missense;PC=E27Q;DC=c.79G>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.040:979,41:179/842:138/841,41/0:200:INF chr15 88136554 rs1863480 G A 0.0 . DP=3519;TI=NM_002530.3;GI=NTRK3;FC=Synonymous;PC=N226=;DC=c.678C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,3517:1785/1734:0/0,1784/1733:0:INF chr15 88137453 rs1128994 G A 0.0 . DP=5602;TI=NM_002530.3;GI=NTRK3;FC=Synonymous;PC=N191=;DC=c.573C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.482:2901,2701:2874/2728:1494/1407,1380/1321:1:0.0 chr15 89260812 rs17803620 C T 0.0 Benign DP=2846;TI=NM_001113378.1;GI=FANCI;FC=Missense;PC=A86V;DC=c.257C>T;LO=EXON;EXON=4;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.478:1486,1360:1476/1370:774/712,702/658:1:0.0 chr15 89260815 . CT C 0.0 lowQ DP=2910;TI=NM_001113378.1;GI=FANCI;FC=Frameshift;PC=E88fs;DC=c.261delT;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:2872,38:1528/1382:1506/1366,22/16:3:NA chr15 89292997 rs2283432 G C 0.0 Benign DP=1455;TI=NM_001113378.1;GI=FANCI;FC=Missense;PC=C742S;DC=c.2225G>C;LO=EXON;EXON=22;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.470:771,684:686/769:361/410,325/359:1:0.0 chr15 89315371 rs1138465 T C 0.0 . DP=1481;TI=NM_001113378.1;GI=FANCI;FC=Synonymous;PC=G1302=;DC=c.3906T>C;LO=EXON;EXON=37 GT:VF:AD:SB:SA:SP:SO 0/1:0.502:737,743:697/784:352/385,344/399:2:0.0 chr15 90540121 rs8033595 G A 0.0 rs DP=445;TI=NM_022769.4;GI=CRTC3;FC=Missense;PC=S72N;DC=c.215G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,445:213/232:0/0,213/232:0:INF chr15 90602309 . T C 0.0 lowQ DP=275;TI=NM_022769.4;GI=CRTC3;FC=Silent;DC=c.352-15T>C;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:272,3:141/134:139/133,2/1:2:0.3 chr15 90760908 . G GA 0.0 R8.1;lowQ DP=1535;TI=NM_000057.3;GI=BLM;FC=Frameshift;PC=N515fs;DC=c.1544dupA;LO=EXON;EXON=7;oriDC=c.1536dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.023:1481,36:805/730:777/704,20/16:1:NA chr15 90760908 . GA G 0.0 R8.1;lowQ DP=1535;TI=NM_000057.3;GI=BLM;FC=Frameshift;PC=N515fs;DC=c.1544delA;LO=EXON;EXON=7;oriDC=c.1536delA GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1481,18:805/730:777/704,8/10:3:NA chr15 90790838 . A G 0.0 . DP=1219;TI=NM_000057.3;GI=BLM;FC=Missense;PC=I1005V;DC=c.3013A>G;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.526:578,641:547/672:256/322,291/350:2:0.0 chr15 92943051 . G C 0.0 lowQ DP=534;TI=NM_001271.3;GI=CHD2;FC=Missense;PC=E345D;DC=c.1035G>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:526,6:247/287:244/282,2/4:3:0.2 chr15 92943057 . A C 0.0 lowQ DP=481;TI=NM_001271.3;GI=CHD2;FC=Missense;PC=E347D;DC=c.1041A>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:467,14:223/258:218/249,5/9:4:0.2 chr15 92955426 . C T 0.0 lowQ DP=369;TI=NM_001271.3;GI=CHD2;FC=Missense;PC=R575W;DC=c.1723C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:361,8:193/176:189/172,4/4:0:0.0 chr15 92967373 rs4777755 A G 0.0 rs DP=699;TI=NM_001271.3;GI=CHD2;FC=Synonymous;PC=E683=;DC=c.2049A>G;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,699:368/331:0/0,368/331:0:INF chr15 92972267 . C A 0.0 lowQ DP=276;TI=NM_001271.3;GI=CHD2;FC=Synonymous;PC=S785=;DC=c.2355C>A;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:272,4:149/127:147/125,2/2:1:0.1 chr15 92978374 rs11074121 A G 0.0 rs DP=457;TI=NM_001271.3;GI=CHD2;FC=Synonymous;PC=Q906=;DC=c.2718A>G;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,457:229/228:0/0,229/228:0:INF chr15 92992967 rs2272457 C T 0.0 rs DP=732;TI=NM_001271.3;GI=CHD2;FC=Synonymous;PC=Y1188=;DC=c.3564C>T;LO=EXON;EXON=28 GT:VF:AD:SB:SA:SP:SO 0/1:0.407:434,298:357/375:211/223,146/152:0:0.0 chr15 92997085 . G GA 0.0 R8.1 DP=376;TI=NM_001271.3;GI=CHD2;FC=Splicing;DC=c.3734_3734+1insA;LO=EXON;EXON=29;oriDC=c.3725dupA;oriPC=Y1246fs GT:VF:AD:SB:SA:SP:SO 0/1:0.059:346,22:202/174:184/162,13/9:2:NA chr15 92997085 . GA G 0.0 R8.1;lowQ DP=376;TI=NM_001271.3;GI=CHD2;FC=Frameshift;PC=K1245fs;DC=c.3734delA;LO=EXON;EXON=29;oriDC=c.3725delA GT:VF:AD:SB:SA:SP:SO 0/1:0.013:346,5:202/174:184/162,3/2:1:NA chr15 93000536 . C T 0.0 lowQ DP=503;TI=NM_001271.3;GI=CHD2;FC=Missense;PC=R1345W;DC=c.4033C>T;LO=EXON;EXON=32 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:497,6:264/239:261/236,3/3:0:0.0 chr15 93002203 . G GA 0.0 R8.1;lowQ DP=622;TI=NM_001271.3;GI=CHD2;FC=Frameshift;PC=Q1392fs;DC=c.4173dupA;LO=EXON;EXON=33;oriDC=c.4165dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.023:604,14:387/235:373/231,11/3:7:NA chr15 93014789 . C G 0.0 lowQ DP=826;TI=NM_001271.3;GI=CHD2;FC=Missense;PC=H1596D;DC=c.4786C>G;LO=EXON;EXON=37 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:817,9:425/401:420/397,5/4:1:0.1 chr15 93024634 rs12906163 A C 0.0 rs DP=1403;TI=NM_001271.3;GI=CHD2;FC=Synonymous;PC=R1806=;DC=c.5416A>C;LO=EXON;EXON=39 GT:VF:AD:SB:SA:SP:SO 0/1:0.507:691,711:670/733:336/355,334/377:3:0.0 chr15 98896843 . C T 0.0 lowQ DP=277;TI=NM_000875.4;GI=IGF1R;FC=Missense;PC=A347V;DC=c.1040C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:273,4:138/139:136/137,2/2:0:0.0 chr15 98929550 . T C 0.0 lowQ DP=276;TI=NM_000875.4;GI=IGF1R;FC=Silent;DC=c.2783-8T>C;LO=INTRON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:273,3:142/134:141/132,1/2:3:0.3 chr15 98957376 rs17847203 C T 0.0 rs DP=2208;TI=NM_000875.4;GI=IGF1R;FC=Synonymous;PC=Y1346=;DC=c.4038C>T;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.473:1163,1045:1052/1156:542/621,510/535:5:0.0 chr16 293557 . T G 0.0 sb;lowQ;Benign DP=1467;TI=NM_003502.3;GI=AXIN1;FC=Missense;PC=Q706P;DC=c.2117A>C;LO=EXON;EXON=8;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1447,18:739/728:733/714,4/14:18:0.6 chr16 297906 . G A 0.0 lowQ DP=4724;TI=NM_003502.3;GI=AXIN1;FC=Missense;PC=H534Y;DC=c.1600C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:4673,49:2330/2394:2310/2363,20/29:6:0.2 chr16 346264 rs1805105 A G 0.0 . DP=2141;TI=NM_003502.3;GI=AXIN1;FC=Synonymous;PC=D254=;DC=c.762T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2141:1049/1092:0/0,1049/1092:0:INF chr16 1773443 rs761065 C G 0.0 rs DP=1202;TI=NM_001257370.1;GI=EME2;FC=Synonymous;PC=V72=;DC=c.216C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.516:582,620:541/661:256/326,285/335:3:0.0 chr16 1776147 rs61753376 G A 0.0 rs DP=2335;TI=NM_001257370.1;GI=EME2;FC=Missense;PC=R350H;DC=c.1049G>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.509:1147,1188:1154/1181:572/575,582/606:2:0.0 chr16 2064406 rs34012042 C T 0.0 . DP=8636;TI=NM_000548.4;GI=TSC2;FC=Synonymous;PC=S526=;DC=c.1578C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.486:4439,4197:4308/4328:2227/2212,2081/2116:2:0.0 chr16 2065505 rs45517185 C T 0.0 sb DP=5971;TI=NM_000548.4;GI=TSC2;FC=Silent;DC=c.1600-14C>T;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.464:3195,2773:2906/3065:1610/1585,1295/1478:24:0.1 chr16 2079158 . T C 0.0 sb;lowQ DP=9019;TI=NM_000548.4;GI=TSC2;FC=Synonymous;PC=A1031=;DC=c.3093T>C;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:8870,147:4600/4419:4503/4367,96/51:33:0.3 chr16 3589138 rs3810812 A G 0.0 rs DP=2361;TI=NM_032444.3;GI=SLX4;FC=Synonymous;PC=N1500=;DC=c.4500T>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2361:1239/1122:0/0,1239/1122:0:INF chr16 3606481 rs8061528 C T 0.0 rs DP=1090;TI=NM_032444.3;GI=SLX4;FC=Synonymous;PC=A251=;DC=c.753G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.470:578,512:662/428:346/232,316/196:3:0.0 chr16 3728336 rs3751845 G A 0.0 . DP=6041;TI=NM_004380.2;GI=CREBBP;FC=Synonymous;PC=P2237=;DC=c.6711C>T;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.482:3127,2911:3052/2989:1565/1562,1486/1425:4:0.0 chr16 3728405 . C T 0.0 sb;RV DP=5808;TI=NM_004380.2;GI=CREBBP;FC=Synonymous;PC=Q2214=;DC=c.6642G>A;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.054:5497,311:2953/2855:2859/2638,94/217:131:0.4 chr16 3728405 . C CTGCTGCTGT 0.0 sb DP=5252;TI=NM_004380.2;GI=CREBBP;FC=CODON_INSERTION;PC=Q2212_Q2214dup;DC=c.6633_6641dup9;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.536:2436,2816:2630/2622:1234/1202,1396/1420:0:INF chr16 3728420 . CTGT C 0.0 sb;lowQ DP=5944;TI=NM_004380.2;GI=CREBBP;FC=CODON_DELETION;PC=Q2209del;DC=c.6624_6626delACA;LO=EXON;EXON=31;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.045:5667,269:2952/2990:2834/2833,115/154:17:NA chr16 3728426 rs55960450 T C 0.0 lowQ DP=6002;TI=NM_004380.2;GI=CREBBP;FC=Synonymous;PC=Q2207=;DC=c.6621A>G;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:5851,150:2969/3032:2896/2955,73/77:1:0.0 chr16 3728435 . C T 0.0 sb;lowQ DP=5964;TI=NM_004380.2;GI=CREBBP;FC=Synonymous;PC=Q2204=;DC=c.6612G>A;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.045:5693,270:2913/3051:2797/2896,116/154:13:0.1 chr16 3728450 . C T 0.0 sb;lowQ DP=5824;TI=NM_004380.2;GI=CREBBP;FC=Synonymous;PC=Q2199=;DC=c.6597G>A;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:5735,87:2773/3051:2740/2995,32/55:14:0.2 chr16 3729209 . T G 0.0 sb.s DP=4316;TI=NM_004380.2;GI=CREBBP;FC=Synonymous;PC=P1946=;DC=c.5838A>C;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.245:3250,1059:2832/1479:2828/422,3/1056:200:3.4 chr16 3729216 . G GC 0.0 sb.s;lowQ;Benign DP=3943;TI=NM_004380.2;GI=CREBBP;FC=Frameshift;PC=A1944fs;DC=c.5830dupG;LO=EXON;EXON=31;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.031:3802,123:2970/973:2969/833,0/123:200:NA chr16 3736739 . G T 0.0 sb.s;lowQ DP=3657;TI=NM_004380.2;GI=CREBBP;FC=Missense;PC=Q1491K;DC=c.4471C>A;LO=EXON;EXON=27;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.030:3540,111:1036/2620:923/2617,111/0:200:INF chr16 3745291 rs129974 G T 0.0 . DP=3258;TI=NM_004380.2;GI=CREBBP;FC=Synonymous;PC=I1300=;DC=c.3900C>A;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.400:1951,1303:1686/1572:1013/938,671/632:1:0.0 chr16 3745362 rs3025684 G A 0.0 . DP=2682;TI=NM_004380.2;GI=CREBBP;FC=Silent;DC=c.3837-8C>T;LO=INTRON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.396:1620,1062:1226/1456:737/883,489/573:1:0.0 chr16 3758051 . T TA 0.0 R8.1;lowQ DP=1187;TI=NM_004380.2;GI=CREBBP;FC=Noncoding;DC=c.3370-4dupT;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.046:606,55:522/665:272/334,24/31:1:NA chr16 3758051 rs75459669 TA T 0.0 R8.1 DP=1187;TI=NM_004380.2;GI=CREBBP;FC=Noncoding;DC=c.3370-4delT;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.377:606,448:522/665:272/334,193/255:3:NA chr16 3758051 . TAA T 0.0 R8.1 DP=1187;TI=NM_004380.2;GI=CREBBP;FC=Noncoding;DC=c.3370-5_3370-4delTT;LO=INTRON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.050:606,59:522/665:272/334,23/36:4:NA chr16 3770666 rs3025694 C T 0.0 . DP=8603;TI=NM_004380.2;GI=CREBBP;FC=Synonymous;PC=P928=;DC=c.2784G>A;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.494:4351,4249:4420/4183:2229/2122,2190/2059:1:0.0 chr16 3793408 . A C 0.0 lowQ DP=3220;TI=NM_004380.2;GI=CREBBP;FC=Missense;PC=C398W;DC=c.1194T>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:3185,33:1782/1438:1761/1424,20/13:3:0.1 chr16 9840756 . G T 0.0 lowQ DP=271;TI=NM_000833.4;GI=GRIN2A;FC=Synonymous;PC=I514=;DC=c.1542C>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:268,3:158/113:157/111,1/2:4:0.5 chr16 9840757 . A T 0.0 sb;lowQ DP=263;TI=NM_000833.4;GI=GRIN2A;FC=Missense;PC=I514N;DC=c.1541T>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:260,3:156/107:156/104,0/3:15:INF chr16 9840813 . C CA 0.0 R8.1;NC DP=136;TI=NM_000833.4;GI=GRIN2A;FC=Noncoding;DC=c.1498-14dupT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.184:75,25:104/32:58/17,19/6:1:NA chr16 9840813 . C CAA 0.0 R8.1;lowQ;NC DP=136;TI=NM_000833.4;GI=GRIN2A;FC=Noncoding;DC=c.1498-15_1498-14dupTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:75,4:104/32:58/17,4/0:5:NA chr16 9840813 . CA C 0.0 R8.1;NC DP=136;TI=NM_000833.4;GI=GRIN2A;FC=Noncoding;DC=c.1498-14delT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.110:75,15:104/32:58/17,12/3:1:NA chr16 9840813 . CAA C 0.0 R8.1;lowQ;NC DP=136;TI=NM_000833.4;GI=GRIN2A;FC=Noncoding;DC=c.1498-15_1498-14delTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.044:75,6:104/32:58/17,4/2:3:NA chr16 9840813 . CAAA C 0.0 R8.1;lowQ;NC DP=136;TI=NM_000833.4;GI=GRIN2A;FC=Noncoding;DC=c.1498-16_1498-14delTTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:75,3:104/32:58/17,2/1:2:NA chr16 9840813 . CAAAA C 0.0 R8.1;lowQ;NC DP=136;TI=NM_000833.4;GI=GRIN2A;FC=Noncoding;DC=c.1498-17_1498-14delTTTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:75,4:104/32:58/17,2/2:7:NA chr16 10906991 rs4774 G C 0.0 rs DP=1623;TI=NM_000246.3;GI=CIITA;FC=Missense;PC=G500A;DC=c.1499G>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,1622:822/801:1/0,821/801:0:INF chr16 10907834 rs13330686 C T 0.0 rs DP=1460;TI=NM_000246.3;GI=CIITA;FC=Missense;PC=S781L;DC=c.2342C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.478:761,698:758/702:394/367,364/334:1:0.0 chr16 10907837 rs13336804 T C 0.0 rs DP=1466;TI=NM_000246.3;GI=CIITA;FC=Missense;PC=V782A;DC=c.2345T>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.492:743,721:749/717:376/367,372/349:2:0.0 chr16 10907913 rs34654419 G T 0.0 rs DP=1197;TI=NM_000246.3;GI=CIITA;FC=Synonymous;PC=L807=;DC=c.2421G>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.513:583,614:568/629:273/310,295/319:2:0.0 chr16 10908057 rs2229321 G A 0.0 rs DP=2012;TI=NM_000246.3;GI=CIITA;FC=Synonymous;PC=A855=;DC=c.2565G>A;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.502:1000,1011:1023/989:509/491,514/497:0:0.0 chr16 10909070 rs7197779 A G 0.0 rs DP=2606;TI=NM_000246.3;GI=CIITA;FC=Missense;PC=Q900R;DC=c.2699A>G;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:1,2605:1372/1234:0/1,1372/1233:0:INF chr16 10922188 rs2229322 C T 0.0 rs DP=1251;TI=NM_000246.3;GI=CIITA;FC=Synonymous;PC=C1057=;DC=c.3171C>T;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.447:692,559:661/590:360/332,301/258:3:0.0 chr16 12051842 . G T 0.0 lowQ DP=223;TI=NM_032167.4;GI=SNX29;FC=Silent;DC=c.749-5G>T;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:219,4:111/112:108/111,3/1:5:0.5 chr16 12051868 . G A 0.0 lowQ DP=325;TI=NM_032167.4;GI=SNX29;FC=Missense;PC=R257Q;DC=c.770G>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:321,4:184/141:182/139,2/2:1:0.1 chr16 12199623 . C G 0.0 lowQ DP=125;TI=NM_032167.4;GI=SNX29;FC=Missense;PC=Q540E;DC=c.1618C>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.024:122,3:66/59:64/58,2/1:2:0.3 chr16 12398433 . C T 0.0 lowQ DP=252;TI=NM_032167.4;GI=SNX29;FC=Silent;DC=c.1900-13C>T;LO=INTRON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:249,3:131/121:129/120,2/1:2:0.3 chr16 12568563 rs2288423 C T 0.0 rs DP=2256;TI=NM_032167.4;GI=SNX29;FC=Synonymous;PC=F792=;DC=c.2376C>T;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.469:1199,1057:1126/1130:603/596,523/534:2:0.0 chr16 13932150 rs254942 G A 0.0 rs DP=299;TI=NM_005236.2;GI=ERCC4;FC=Silent;DC=c.974-7G>A;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,299:148/151:0/0,148/151:0:INF chr16 13935285 . G T 0.0 sb;lowQ DP=294;TI=NM_005236.2;GI=ERCC4;FC=Missense;PC=M451I;DC=c.1353G>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:290,4:171/123:171/119,0/4:18:INF chr16 13935459 . T C 0.0 lowQ DP=411;TI=NM_005236.2;GI=ERCC4;FC=Synonymous;PC=D509=;DC=c.1527T>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:399,12:208/203:200/199,8/4:6:0.3 chr16 13937824 . C T 0.0 lowQ DP=240;TI=NM_005236.2;GI=ERCC4;FC=Missense;PC=R624W;DC=c.1870C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:236,4:127/113:125/111,2/2:0:0.1 chr16 13947616 . G T 0.0 lowQ DP=385;TI=NM_005236.2;GI=ERCC4;FC=Missense;PC=G674C;DC=c.2020G>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:381,4:235/150:233/148,2/2:2:0.2 chr16 13947989 . T G 0.0 lowQ DP=774;TI=NM_005236.2;GI=ERCC4;FC=Missense;PC=L798R;DC=c.2393T>G;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:765,9:405/369:402/363,3/6:6:0.3 chr16 15704099 . A G 0.0 lowQ DP=361;TI=NM_002474.2;GI=MYH11;FC=Synonymous;PC=V1937=;DC=c.5811T>C;LO=EXON;EXON=41 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:357,4:165/196:163/194,2/2:1:0.1 chr16 15704122 . G A 0.0 lowQ DP=271;TI=NM_002474.2;GI=MYH11;FC=Nonsense;PC=R1930*;DC=c.5788C>T;LO=EXON;EXON=41 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:267,4:116/155:114/153,2/2:1:0.1 chr16 15717166 rs1050163 C T 0.0 rs DP=1752;TI=NM_002474.2;GI=MYH11;FC=Synonymous;PC=L1826=;DC=c.5478G>A;LO=EXON;EXON=38 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1752:965/787:0/0,965/787:0:INF chr16 15717205 rs1050162 C T 0.0 rs DP=1934;TI=NM_002474.2;GI=MYH11;FC=Synonymous;PC=K1813=;DC=c.5439G>A;LO=EXON;EXON=38 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1934:971/963:0/0,971/963:0:INF chr16 15724284 rs2075511 A C 0.0 rs DP=2336;TI=NM_002474.2;GI=MYH11;FC=Synonymous;PC=A1414=;DC=c.4242T>G;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2335:1205/1131:0/0,1204/1131:0:INF chr16 15771615 rs4781689 G A 0.0 rs DP=985;TI=NM_002474.2;GI=MYH11;FC=Synonymous;PC=T329=;DC=c.987C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.481:507,474:525/460:269/238,254/220:1:0.0 chr16 23626374 . T G 0.0 lowQ DP=2956;TI=NM_024675.3;GI=PALB2;FC=Synonymous;PC=V870=;DC=c.2610A>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:2926,30:1421/1535:1409/1517,12/18:4:0.1 chr16 30123177 . G C 0.0 sb.s DP=1144;TI=NM_002746.2;GI=MAPK3;FC=Synonymous;PC=G11=;DC=c.33C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.088:1041,101:153/990:52/989,101/0:200:INF chr16 30123183 . G C 0.0 sb.s DP=1175;TI=NM_002746.2;GI=MAPK3;FC=Synonymous;PC=G9=;DC=c.27C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.155:992,182:206/968:24/968,182/0:200:INF chr16 31182621 rs741810 C A 0.0 rs DP=935;TI=NM_004960.3;GI=FUS;FC=Synonymous;PC=G49=;DC=c.147C>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.467:498,437:460/475:243/255,217/220:1:0.0 chr16 31183958 rs1052352 C T 0.0 rs DP=1472;TI=NM_004960.3;GI=FUS;FC=Synonymous;PC=Y97=;DC=c.291C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.471:779,693:728/744:386/393,342/351:0:0.0 chr16 31185099 rs151073460 C T 0.0 lowQ;rs DP=1884;TI=NM_004960.3;GI=FUS;FC=Synonymous;PC=G228=;DC=c.684C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1862,22:916/968:905/957,11/11:0:0.0 chr16 31191424 . G A 0.0 lowQ DP=265;TI=NM_004960.3;GI=FUS;FC=Missense;PC=E523K;DC=c.1567G>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:261,4:126/139:125/136,1/3:4:0.4 chr16 56798481 . C A 0.0 lowQ DP=337;TI=NM_014669.4;GI=NUP93;FC=Missense;PC=F101L;DC=c.303C>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:333,4:176/161:174/159,2/2:0:0.0 chr16 56805527 rs1803870 C T 0.0 rs DP=478;TI=NM_014669.4;GI=NUP93;FC=Synonymous;PC=Y128=;DC=c.384C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.475:251,227:251/227:135/116,116/111:3:0.0 chr16 56821584 rs2118017 C G 0.0 rs DP=583;TI=NM_014669.4;GI=NUP93;FC=Synonymous;PC=L215=;DC=c.645C>G;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,583:259/324:0/0,259/324:0:INF chr16 56832284 rs2241770 T C 0.0 rs DP=100;TI=NM_014669.4;GI=NUP93;FC=Silent;DC=c.1252-11T>C;LO=INTRON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.470:53,47:50/50:25/28,25/22:3:0.1 chr16 56834788 rs1347591 A G 0.0 rs DP=263;TI=NM_014669.4;GI=NUP93;FC=Silent;DC=c.1782+10A>G;LO=INTRON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.373:165,98:126/137:80/85,46/52:1:0.0 chr16 64948103 . G A 0.0 lowQ DP=449;TI=NM_001797.3;GI=CDH11;FC=Silent;DC=c.1895-4C>T;LO=INTRON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:444,5:201/248:198/246,3/2:3:0.3 chr16 64971944 . G T 0.0 lowQ DP=377;TI=NM_001797.3;GI=CDH11;FC=Missense;PC=P504Q;DC=c.1511C>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:373,4:200/177:198/175,2/2:0:0.1 chr16 64982184 . A C 0.0 Benign DP=643;TI=NM_001797.3;GI=CDH11;FC=Missense;PC=S373A;DC=c.1117T>G;LO=EXON;EXON=8;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,643:309/334:0/0,309/334:0:INF chr16 64988211 rs28216 C T 0.0 rs DP=467;TI=NM_001797.3;GI=CDH11;FC=Synonymous;PC=S315=;DC=c.945G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.473:246,221:238/229:122/124,116/105:3:0.1 chr16 64988342 . C T 0.0 lowQ DP=256;TI=NM_001797.3;GI=CDH11;FC=Missense;PC=V272I;DC=c.814G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:252,4:112/144:110/142,2/2:1:0.1 chr16 64991815 rs35195 G A 0.0 rs DP=763;TI=NM_001797.3;GI=CDH11;FC=Missense;PC=T255M;DC=c.764C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.419:441,320:397/366:231/210,165/155:1:0.0 chr16 64991946 rs35194 A G 0.0 rs DP=529;TI=NM_001797.3;GI=CDH11;FC=Silent;DC=c.644-11T>C;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:0.992:4,525:220/309:2/2,218/307:1:0.1 chr16 65004771 rs35182 G A 0.0 rs DP=2176;TI=NM_001797.3;GI=CDH11;FC=Synonymous;PC=P33=;DC=c.99C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.529:1024,1151:1043/1133:492/532,551/600:0:0.0 chr16 67610916 . C T 0.0 sb;lowQ DP=4308;TI=NM_006565.3;GI=CTCF;FC=Synonymous;PC=R28=;DC=c.84C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:4247,57:2354/1954:2313/1934,39/18:15:0.3 chr16 67629445 . A C 0.0 lowQ DP=2802;TI=NM_006565.3;GI=CTCF;FC=Synonymous;PC=V583=;DC=c.1749A>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:2757,42:1433/1369:1408/1349,24/18:4:0.1 chr16 67657765 rs6979 A G 0.0 rs DP=1733;TI=NM_001082486.1;GI=ACD;FC=Missense;PC=V518A;DC=c.1553T>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.505:856,876:808/925:404/452,404/472:2:0.0 chr16 68737469 rs3743674 C T 0.0 . DP=7092;TI=NM_004360.4;GI=CDH1;FC=Silent;DC=c.48+6C>T;LO=INTRON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.494:3588,3501:3330/3762:1667/1921,1662/1839:4:0.0 chr16 68822153 . A G 0.0 sb;lowQ DP=4286;TI=NM_004360.4;GI=CDH1;FC=Missense;PC=N622D;DC=c.1864A>G;LO=EXON;EXON=12;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.027:4170,116:2160/2126:2089/2081,71/45:17:0.2 chr16 68823538 rs1801552 T C 0.0 . DP=3280;TI=NM_004360.4;GI=CDH1;FC=Synonymous;PC=A692=;DC=c.2076T>C;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.527:1551,1727:1624/1656:755/796,868/859:4:0.0 chr16 68828260 . A G 0.0 lowQ DP=3382;TI=NM_004360.4;GI=CDH1;FC=Missense;PC=N751D;DC=c.2251A>G;LO=EXON;EXON=14;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.014:3333,47:1605/1777:1583/1750,21/26:2:0.0 chr16 72787475 . A C 0.0 sb.s;lowQ DP=1562;TI=NM_006885.3;GI=ZFHX3;FC=Missense;PC=S3601A;DC=c.10801T>G;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.039:1494,61:1300/261:1296/198,0/61:200:INF chr16 72787694 . A AGCC 0.0 lowQ;Benign DP=2425;TI=NM_006885.3;GI=ZFHX3;FC=CODON_INSERTION;PC=G3527dup;DC=c.10579_10581dupGGC;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.019:1487,47:1261/1164:798/689,26/21:1:NA chr16 72787694 . A AGCCGCC 0.0 sb;Benign DP=2238;TI=NM_006885.3;GI=ZFHX3;FC=CODON_INSERTION;PC=G3526_G3527dup;DC=c.10576_10581dupGGCGGC;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.529:1054,1184:1116/1122:529/525,587/597:0:INF chr16 72787719 . A G 0.0 sb DP=2508;TI=NM_006885.3;GI=ZFHX3;FC=Synonymous;PC=G3519=;DC=c.10557T>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.064:2343,160:1246/1257:1150/1193,96/64:21:0.2 chr16 72787725 . G A 0.0 sb;lowQ DP=2544;TI=NM_006885.3;GI=ZFHX3;FC=Synonymous;PC=G3517=;DC=c.10551C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.026:2471,67:1212/1327:1171/1300,41/26:16:0.2 chr16 72787743 . ACCG A 0.0 lowQ DP=2350;TI=NM_006885.3;GI=ZFHX3;FC=CODON_DELETION;PC=G3511del;DC=c.10530_10532delCGG;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:2322,28:1087/1263:1072/1250,15/13:4:NA chr16 72788109 . TTGC T 0.0 lowQ DP=2633;TI=NM_006885.3;GI=ZFHX3;FC=CODON_DELETION;PC=Q3389del;DC=c.10164_10166delGCA;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:2590,32:1334/1299:1315/1275,14/18:4:NA chr16 72788662 . GGTTGCT G 0.0 sb;lowQ DP=1597;TI=NM_006885.3;GI=ZFHX3;FC=CODON_DELETION;PC=Q3203_Q3204del;DC=c.9608_9613delAGCAAC;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.001:888,1:425/464:425/463,0/1:0:INF chr16 72788664 . TTGC T 0.0 lowQ;Benign DP=1597;TI=NM_006885.3;GI=ZFHX3;FC=CODON_DELETION;PC=Q3204del;DC=c.9609_9611delGCA;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.018:888,29:437/480:425/463,12/17:0:INF chr16 72788664 . TTGCTGC T 0.0 sb;Benign DP=1597;TI=NM_006885.3;GI=ZFHX3;FC=CODON_DELETION;PC=Q3203_Q3204del;DC=c.9606_9611delGCAGCA;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.425:888,679:783/784:425/463,358/321:0:INF chr16 72793859 rs699444 T C 0.0 rs DP=787;TI=NM_006885.3;GI=ZFHX3;FC=Synonymous;PC=G2941=;DC=c.8823A>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.501:393,394:423/364:211/182,212/182:0:0.0 chr16 72798236 rs740178 T A 0.0 rs DP=1126;TI=NM_006885.3;GI=ZFHX3;FC=Synonymous;PC=A1482=;DC=c.4446A>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.520:540,586:589/537:273/267,316/270:6:0.1 chr16 72798719 . T TA 0.0 R8.1;NC DP=227;TI=NM_006885.3;GI=ZFHX3;FC=Noncoding;DC=c.3968-6dupT;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.088:171,20:99/128:75/96,10/10:2:NA chr16 72798719 . T TAA 0.0 R8.1;lowQ;NC DP=227;TI=NM_006885.3;GI=ZFHX3;FC=Noncoding;DC=c.3968-7_3968-6dupTT;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:171,3:99/128:75/96,2/1:4:NA chr16 72798719 . TA T 0.0 R8.1;NC DP=227;TI=NM_006885.3;GI=ZFHX3;FC=Noncoding;DC=c.3968-6delT;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.119:171,27:99/128:75/96,9/18:5:NA chr16 72798719 . TAA T 0.0 R8.1;lowQ;NC DP=227;TI=NM_006885.3;GI=ZFHX3;FC=Noncoding;DC=c.3968-7_3968-6delTT;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:171,5:99/128:75/96,2/3:1:NA chr16 72811783 rs56991537 G A 0.0 rs DP=1846;TI=NM_006885.3;GI=ZFHX3;FC=Silent;DC=c.3664-6C>T;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.509:907,939:835/1011:412/495,423/516:1:0.0 chr16 72957761 rs10852515 C G 0.0 rs DP=1926;TI=NM_006885.3;GI=ZFHX3;FC=Synonymous;PC=P795=;DC=c.2385G>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.558:852,1074:984/942:424/428,560/514:5:0.0 chr16 72957813 . GCCA G 0.0 lowQ;Benign DP=1914;TI=NM_006885.3;GI=ZFHX3;FC=CODON_DELETION;PC=V777del;DC=c.2330_2332delTGG;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1889,20:962/947:953/936,9/11:2:NA chr16 72957816 rs4788682 A G 0.0 rs DP=1936;TI=NM_006885.3;GI=ZFHX3;FC=Missense;PC=V777A;DC=c.2330T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.575:796,1114:961/950:402/394,559/555:1:0.0 chr16 72959932 rs7193297 A C 0.0 rs DP=1630;TI=NM_006885.3;GI=ZFHX3;FC=Missense;PC=S72A;DC=c.214T>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.475:851,774:804/825:425/426,377/397:2:0.0 chr16 75656581 . A G 0.0 lowQ DP=377;TI=NM_018975.3;GI=TERF2IP;FC=Synonymous;PC=V390=;DC=c.1170A>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:373,4:178/199:176/197,2/2:0:0.0 chr16 79599178 . G C 0.0 sb.s;lowQ DP=336;TI=NM_005360.4;GI=MAF;FC=Missense;PC=A242G;DC=c.725C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.033:325,11:76/260:65/260,11/0:94:INF chr16 79599184 . G C 0.0 sb.s;lowQ DP=269;TI=NM_005360.4;GI=MAF;FC=Missense;PC=A240G;DC=c.719C>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:260,8:52/216:44/216,8/0:83:INF chr16 79599194 . C A 0.0 lowQ DP=255;TI=NM_005360.4;GI=MAF;FC=Missense;PC=G237W;DC=c.709G>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:252,3:73/182:72/180,1/2:1:0.1 chr16 79599201 . TCCG T 0.0 lowQ;Benign DP=183;TI=NM_005360.4;GI=MAF;FC=CODON_DELETION;PC=G234del;DC=c.699_701delCGG;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.038:176,7:28/155:27/149,1/6:0:NA chr16 79599341 . CGTG C 0.0 lowQ;Benign DP=1640;TI=NM_005360.4;GI=MAF;FC=CODON_DELETION;PC=H187del;DC=c.559_561delCAC;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.026:1585,43:974/661:942/643,28/15:3:NA chr16 79599908 rs5818251 TGCC T 0.0 NC;rs DP=810;TI=NM_005360.4;GI=MAF;FC=UTR;DC=c.-9_-7delGGC;LO=5UTR;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.764:164,619:382/426:76/88,291/328:1:NA chr16 79599908 . TGCCGCC T 0.0 NC DP=696;TI=NM_005360.4;GI=MAF;FC=UTR;DC=c.-12_-7delGGCGGC;LO=5UTR;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.050:661,35:325/372:308/354,17/18:0:INF chr16 81786163 rs1143685 T C 0.0 rs DP=1591;TI=NM_002661.4;GI=PLCG2;FC=Synonymous;PC=A58=;DC=c.174T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.802:315,1276:713/878:147/168,566/710:3:0.0 chr16 81854547 rs1143686 A G 0.0 rs DP=725;TI=NM_002661.4;GI=PLCG2;FC=Synonymous;PC=L99=;DC=c.297A>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.828:125,600:351/374:62/63,289/311:1:0.0 chr16 81859103 rs4888183 T A 0.0 rs DP=404;TI=NM_002661.4;GI=PLCG2;FC=Silent;DC=c.432-13T>A;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.191:327,77:219/185:176/151,43/34:1:0.0 chr16 81870934 . C T 0.0 lowQ DP=323;TI=NM_002661.4;GI=PLCG2;FC=Missense;PC=S216L;DC=c.647C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:319,4:157/166:155/164,2/2:0:0.0 chr16 81907714 rs1143689 C T 0.0 rs DP=763;TI=NM_002661.4;GI=PLCG2;FC=Synonymous;PC=A499=;DC=c.1497C>T;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.215:599,164:391/372:307/292,84/80:0:0.0 chr16 81919476 rs12448130 T C 0.0 rs DP=999;TI=NM_002661.4;GI=PLCG2;FC=Silent;DC=c.2055-8T>C;LO=INTRON;EXON=20 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,998:574/425:1/0,573/425:0:INF chr16 81921184 . C CT 0.0 R8.1;lowQ;NC DP=230;TI=NM_002661.4;GI=PLCG2;FC=Noncoding;DC=c.2236-5dupT;LO=INTRON;EXON=21;oriDC=c.2236-13dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.030:220,7:122/108:117/103,4/3:1:NA chr16 81921184 . CT C 0.0 R8.1;lowQ;NC DP=230;TI=NM_002661.4;GI=PLCG2;FC=Noncoding;DC=c.2236-5delT;LO=INTRON;EXON=21;oriDC=c.2236-13delT GT:VF:AD:SB:SA:SP:SO 0/1:0.013:220,3:122/108:117/103,1/2:3:NA chr16 81934532 . G A 0.0 lowQ DP=268;TI=NM_002661.4;GI=PLCG2;FC=Splicing;DC=c.2842+1G>A;LO=SPLICING;EXON=26 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:264,4:122/146:120/144,2/2:1:0.1 chr16 81937798 rs1071644 T C 0.0 rs DP=905;TI=NM_002661.4;GI=PLCG2;FC=Synonymous;PC=N1031=;DC=c.3093T>C;LO=EXON;EXON=28 GT:VF:AD:SB:SA:SP:SO 0/1:0.759:218,687:497/408:122/96,375/312:1:0.0 chr16 88901640 rs76033980 T C 0.0 rs DP=823;TI=NM_005187.5;GI=CBFA2T3;FC=Synonymous;PC=K56=;DC=c.168A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.765:193,630:383/440:90/103,293/337:0:0.0 chr16 89740825 rs11649210 C G 0.0 . DP=2415;TI=NM_000135.3;GI=FANCA;FC=Synonymous;PC=L1269=;DC=c.3807G>C;LO=EXON;EXON=38 GT:VF:AD:SB:SA:SP:SO 0/1:0.220:1883,532:1235/1180:963/920,272/260:0:0.0 chr16 89742911 rs1800358 T C 0.0 . DP=3329;TI=NM_000135.3;GI=FANCA;FC=Synonymous;PC=P1218=;DC=c.3654A>G;LO=EXON;EXON=37 GT:VF:AD:SB:SA:SP:SO 0/1:0.247:2507,822:1590/1739:1193/1314,397/425:1:0.0 chr16 89769915 rs7195066 C T 0.0 Benign DP=5511;TI=NM_000135.3;GI=FANCA;FC=Missense;PC=G809D;DC=c.2426G>A;LO=EXON;EXON=26;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:6,5504:2948/2563:2/4,2945/2559:5:0.4 chr16 89771670 rs1800340 A G 0.0 . DP=2058;TI=NM_000135.3;GI=FANCA;FC=Silent;DC=c.2151+8T>C;LO=INTRON;EXON=23 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2058:1142/916:0/0,1142/916:0:INF chr16 89783072 rs2239359 C T 0.0 Benign DP=5427;TI=NM_000135.3;GI=FANCA;FC=Missense;PC=G501S;DC=c.1501G>A;LO=EXON;EXON=16;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:1,5426:2655/2772:1/0,2654/2772:0:INF chr16 89799635 rs7190823 T C 0.0 Benign DP=2674;TI=NM_000135.3;GI=FANCA;FC=Missense;PC=T266A;DC=c.796A>G;LO=EXON;EXON=9;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.998:4,2668:1305/1367:3/1,1302/1366:5:0.5 chr16 89803353 rs1800286 T C 0.0 . DP=1642;TI=NM_000135.3;GI=FANCA;FC=Silent;DC=c.710-12A>G;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1642:788/854:0/0,788/854:0:INF chr17 1362010 rs543499657 T TA 0.0 R8.1;NC;rs DP=104;TI=NM_006761.4;GI=YWHAE;FC=Noncoding;DC=c.265-3dupT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.106:85,11:54/50:45/40,5/6:2:NA chr17 1362010 . TA T 0.0 R8.1;NC DP=104;TI=NM_006761.4;GI=YWHAE;FC=Noncoding;DC=c.265-3delT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.058:85,6:54/50:45/40,3/3:1:NA chr17 1364865 . C T 0.0 lowQ DP=987;TI=NM_006761.4;GI=YWHAE;FC=Synonymous;PC=R86=;DC=c.258G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:976,11:514/473:508/468,6/5:1:0.0 chr17 1400043 . T A 0.0 sb.s;lowQ DP=1082;TI=NM_006761.4;GI=YWHAE;FC=Silent;DC=c.64+4A>T;LO=INTRON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.036:1043,39:228/854:189/854,39/0:200:INF chr17 1830105 rs5030749 A G 0.0 . DP=1174;TI=NM_002945.4;GI=RPA1;FC=Synonymous;PC=Q4=;DC=c.12A>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1174:587/587:0/0,587/587:0:INF chr17 5139599 rs8073787 T C 0.0 rs DP=4009;TI=NM_004505.3;GI=USP6;FC=Missense;PC=W475R;DC=c.1423T>C;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,4001:1877/2132:0/2,1874/2127:0:INF chr17 5141454 rs200519817 G A 0.0 rs DP=290;TI=NM_004505.3;GI=USP6;FC=Missense;PC=E510K;DC=c.1528G>A;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.493:147,143:135/155:67/80,68/75:1:0.0 chr17 5142474 . A G 0.0 sb;lowQ DP=285;TI=NM_004505.3;GI=USP6;FC=Missense;PC=Q597R;DC=c.1790A>G;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:282,3:136/149:133/149,3/0:20:INF chr17 5145401 . C A 0.0 lowQ DP=320;TI=NM_004505.3;GI=USP6;FC=Silent;DC=c.1993-4C>A;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:316,4:178/142:176/140,2/2:1:0.1 chr17 5170615 rs138559331 G A 0.0 FP;rs DP=2397;TI=NM_004505.3;GI=USP6;FC=Synonymous;PC=P1218=;DC=c.3654G>A;LO=EXON;EXON=28 GT:VF:AD:SB:SA:SP:SO 0/1:0.481:1244,1152:1267/1130:662/582,604/548:2:0.0 chr17 8077086 rs112835279 G A 0.0 rs DP=3585;TI=NM_001139.2;GI=ALOX12B;FC=Synonymous;PC=H393=;DC=c.1179C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.471:1894,1687:1807/1778:943/951,862/825:4:0.0 chr17 8080651 rs2304908 G C 0.0 rs DP=2076;TI=NM_001139.2;GI=ALOX12B;FC=Silent;DC=c.650+7C>G;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.480:1078,997:1138/938:600/478,538/459:4:0.0 chr17 8143454 rs2585405 C G 0.0 rs DP=1464;TI=NM_002616.2;GI=PER1;FC=Missense;PC=A962P;DC=c.2884G>C;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 1/1:0.995:2,1457:734/725:1/1,733/724:0:0.0 chr17 8144851 rs2253820 T C 0.0 rs DP=1775;TI=NM_002616.2;GI=PER1;FC=Synonymous;PC=T787=;DC=c.2361A>G;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:1,1771:968/807:0/1,967/804:0:INF chr17 8144965 rs2735611 G A 0.0 rs DP=2133;TI=NM_002616.2;GI=PER1;FC=Synonymous;PC=G749=;DC=c.2247C>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:4,2127:1019/1114:2/2,1017/1110:0:0.0 chr17 8149767 rs3027178 T G 0.0 rs DP=2960;TI=NM_002616.2;GI=PER1;FC=Synonymous;PC=T213=;DC=c.639A>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.485:1523,1437:1453/1507:743/780,710/727:1:0.0 chr17 8205013 rs1059476 A G 0.0 rs DP=2577;TI=NM_004217.3;GI=AURKB;FC=Missense;PC=M298T;DC=c.893T>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:3,2571:1199/1378:2/1,1196/1375:3:0.4 chr17 8205021 rs2241909 G A 0.0 rs DP=2390;TI=NM_004217.3;GI=AURKB;FC=Synonymous;PC=S295=;DC=c.885C>T;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.459:1294,1096:1096/1294:589/705,507/589:1:0.0 chr17 8206758 . T C 0.0 . DP=1545;TI=NM_004217.3;GI=AURKB;FC=Missense;PC=T177A;DC=c.529A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.507:762,783:676/869:323/439,353/430:5:0.0 chr17 12020888 . T A 0.0 sb.s;lowQ;Benign DP=1518;TI=NM_003010.3;GI=MAP2K4;FC=START_LOST;PC=M1?;DC=c.2T>A;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.040:1457,60:738/780:678/779,60/0:154:INF chr17 16070530 rs12942295 A T 0.0 rs DP=797;TI=NM_006311.3;GI=NCOR1;FC=Silent;DC=c.4153-5T>A;LO=INTRON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.523:378,417:349/448:166/212,182/235:0:0.0 chr17 16086344 . A T 0.0 lowQ DP=482;TI=NM_006311.3;GI=NCOR1;FC=Missense;PC=S1039T;DC=c.3115T>A;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:474,8:237/245:233/241,4/4:0:0.0 chr17 16108792 . T C 0.0 lowQ DP=287;TI=NM_006311.3;GI=NCOR1;FC=Missense;PC=S726G;DC=c.2176A>G;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:283,4:150/137:148/135,2/2:0:0.0 chr17 16119479 . G A 0.0 lowQ DP=277;TI=NM_006311.3;GI=NCOR1;FC=Missense;PC=T620I;DC=c.1859C>T;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:273,4:137/140:135/138,2/2:0:0.0 chr17 16126124 . T C 0.0 lowQ DP=394;TI=NM_006311.3;GI=NCOR1;FC=Missense;PC=E531G;DC=c.1592A>G;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:390,4:201/193:199/191,2/2:0:0.0 chr17 16137368 . AT A 0.0 lowQ DP=361;TI=NM_006311.3;GI=NCOR1;FC=Frameshift;PC=N484fs;DC=c.1451delA;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:357,4:170/191:168/189,2/2:0:NA chr17 16149442 . G T 0.0 lowQ DP=260;TI=NM_006311.3;GI=NCOR1;FC=Silent;DC=c.909+9C>A;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:257,3:140/120:139/118,1/2:3:0.4 chr17 16194528 . G A 0.0 lowQ DP=375;TI=NM_006311.3;GI=NCOR1;FC=Synonymous;PC=S14=;DC=c.42C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:371,4:188/187:186/185,2/2:0:0.0 chr17 18039595 . G C 0.0 sb.s DP=1328;TI=NM_024052.4;GI=GID4;FC=Missense;PC=R44P;DC=c.131G>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.050:1260,67:273/1055:206/1054,67/0:200:INF chr17 18039606 . G C 0.0 sb.s DP=1204;TI=NM_024052.4;GI=GID4;FC=Missense;PC=A48P;DC=c.142G>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.061:1131,73:200/1004:128/1003,72/1:200:2.8 chr17 20205583 . CT C 0.0 lowQ DP=299;TI=NM_001033553.2;GI=SPECC1;FC=Frameshift;PC=L512fs;DC=c.1535delT;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.027:291,8:157/142:151/140,6/2:7:NA chr17 20205584 . T C 0.0 lowQ DP=308;TI=NM_001033553.2;GI=SPECC1;FC=Missense;PC=L512P;DC=c.1535T>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:288,5:155/144:148/140,3/2:2:0.2 chr17 20205584 . T G 0.0 lowQ DP=308;TI=NM_001033553.2;GI=SPECC1;FC=Missense;PC=L512R;DC=c.1535T>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:288,6:155/144:148/140,4/2:3:0.3 chr17 31155970 . C CT 0.0 lowQ;Benign DP=455;TI=NM_001042492.2;GI=NF1;FC=Noncoding;DC=c.61-4dupT;LO=INTRON;EXON=2;oriDC=c.61-12dupT;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.024:442,11:194/261:190/252,4/7:2:NA chr17 31155996 . C A 0.0 sb;lowQ DP=684;TI=NM_001042492.2;GI=NF1;FC=Missense;PC=T25K;DC=c.74C>A;LO=EXON;EXON=2;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.012:676,8:298/386:291/385,7/1:19:1.0 chr17 31169974 . C A 0.0 sb.s DP=834;TI=NM_001042492.2;GI=NF1;FC=Missense;PC=A188E;DC=c.563C>A;LO=EXON;EXON=5;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.060:784,50:652/182:651/133,1/49:200:2.4 chr17 31181757 rs1801052 G A 0.0 . DP=797;TI=NM_001042492.2;GI=NF1;FC=Synonymous;PC=L234=;DC=c.702G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.429:454,342:416/381:237/217,178/164:0:0.0 chr17 31226467 rs2285892 G A 0.0 . DP=2357;TI=NM_001042492.2;GI=NF1;FC=Synonymous;PC=P678=;DC=c.2034G>A;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.451:1294,1063:1273/1084:698/596,575/488:0:0.0 chr17 31232070 . C A 0.0 sb.s;lowQ DP=199;TI=NM_001042492.2;GI=NF1;FC=Silent;DC=c.3198-3C>A;LO=INTRON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.035:190,7:55/144:47/143,7/0:49:INF chr17 31937406 . GCCT G 0.0 lowQ;Benign DP=1873;TI=NM_015355.3;GI=SUZ12;FC=CODON_DELETION;PC=S59del;DC=c.175_177delTCC;LO=EXON;EXON=1;oriDC=c.161_163delCCT;oriPC=S55del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.020:1830,37:956/917:930/900,23/14:8:NA chr17 31966130 . CTT C 0.0 R8.1;lowQ DP=163;TI=NM_015355.3;GI=SUZ12;FC=Noncoding;DC=c.456-4_456-3delTT;LO=INTRON;EXON=5;oriDC=c.456-16_456-15delTT GT:VF:AD:SB:SA:SP:SO 0/1:0.049:70,8:94/69:41/29,4/4:2:NA chr17 31966183 . C A 0.0 sb;lowQ DP=288;TI=NM_015355.3;GI=SUZ12;FC=Missense;PC=F164L;DC=c.492C>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:285,3:127/161:124/161,3/0:13:INF chr17 31975717 . A AT 0.0 R8.1;lowQ;FP DP=293;TI=NM_015355.3;GI=SUZ12;FC=Noncoding;DC=c.823+15dupT;LO=INTRON;EXON=7;oriDC=c.823+5dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.034:278,10:128/165:122/156,4/6:1:NA chr17 31993982 . C T 0.0 lowQ DP=329;TI=NM_015355.3;GI=SUZ12;FC=Missense;PC=H471Y;DC=c.1411C>T;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:325,4:153/176:151/174,2/2:1:0.1 chr17 31994595 . C T 0.0 lowQ DP=274;TI=NM_015355.3;GI=SUZ12;FC=Missense;PC=S490F;DC=c.1469C>T;LO=EXON;EXON=13;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.015:270,4:148/126:146/124,2/2:1:0.1 chr17 35817733 . C CG 0.0 lowQ DP=226;TI=NM_139215.2;GI=TAF15;FC=Frameshift;PC=Q9fs;DC=c.25_26insG;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:221,3:123/103:120/101,2/1:2:NA chr17 35844823 rs4251786 C T 0.0 rs DP=7404;TI=NM_139215.2;GI=TAF15;FC=Synonymous;PC=Y508=;DC=c.1524C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.484:3810,3582:3630/3767:1871/1939,1756/1826:0:0.0 chr17 39471455 . T G 0.0 sb;lowQ DP=1699;TI=NM_016507.3;GI=CDK12;FC=Synonymous;PC=T541=;DC=c.1623T>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1660,21:425/1274:397/1263,10/11:19:0.5 chr17 39492736 . G T 0.0 sb.s DP=1361;TI=NM_016507.3;GI=CDK12;FC=Silent;DC=c.2109-15G>T;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.119:1199,162:1087/274:1087/112,0/162:200:INF chr17 39492750 . G T 0.0 sb.s;lowQ DP=1396;TI=NM_016507.3;GI=CDK12;FC=Splicing;DC=c.2109-1G>T;LO=SPLICING;EXON=4;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.030:1353,42:1234/161:1234/119,0/42:200:INF chr17 39492773 . G T 0.0 sb.s;lowQ DP=1584;TI=NM_016507.3;GI=CDK12;FC=Nonsense;PC=E711*;DC=c.2131G>T;LO=EXON;EXON=4;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.030:1534,48:1439/145:1437/97,0/48:200:INF chr17 39712315 . T A 0.0 sb.s DP=3391;TI=NM_004448.3;GI=ERBB2;FC=Silent;DC=c.1022-7T>A;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.052:3210,178:955/2435:777/2433,177/1:200:2.7 chr17 39717309 rs200189245 G GC 0.0 lowQ;Benign DP=4635;TI=NM_004448.3;GI=ERBB2;FC=Noncoding;DC=c.1738-3dupC;LO=INTRON;EXON=15;oriDC=c.1738-10dupC;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.013:4536,62:2595/2040:2541/1995,31/31:5:NA chr17 39725410 . A T 0.0 sb.s;lowQ DP=3107;TI=NM_004448.3;GI=ERBB2;FC=Silent;DC=c.2725+8A>T;LO=INTRON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.038:2974,118:2170/924:2168/806,0/118:200:INF chr17 39727784 rs1058808 C G 0.0 Benign DP=8370;TI=NM_004448.3;GI=ERBB2;FC=Missense;PC=P1170A;DC=c.3508C>G;LO=EXON;EXON=27;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.495:4224,4143:4248/4122:2154/2070,2093/2050:2:0.0 chr17 40389643 . G A 0.0 lowQ DP=343;TI=NM_001067.3;GI=TOP2A;FC=Missense;PC=S1491F;DC=c.4472C>T;LO=EXON;EXON=35 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:339,4:166/177:164/175,2/2:0:0.0 chr17 40391601 . G A 0.0 lowQ DP=391;TI=NM_001067.3;GI=TOP2A;FC=Missense;PC=S1391F;DC=c.4172C>T;LO=EXON;EXON=33 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:387,4:180/211:178/209,2/2:1:0.1 chr17 40392119 . T TA 0.0 R8.1;NC DP=278;TI=NM_001067.3;GI=TOP2A;FC=Noncoding;DC=c.4089-9dupT;LO=INTRON;EXON=32 GT:VF:AD:SB:SA:SP:SO 0/1:0.072:238,20:141/137:121/117,10/10:0:NA chr17 40392119 . TA T 0.0 R8.1;NC DP=278;TI=NM_001067.3;GI=TOP2A;FC=Noncoding;DC=c.4089-9delT;LO=INTRON;EXON=32 GT:VF:AD:SB:SA:SP:SO 0/1:0.072:238,20:141/137:121/117,10/10:0:NA chr17 40399076 . C T 0.0 lowQ DP=244;TI=NM_001067.3;GI=TOP2A;FC=Synonymous;PC=S1084=;DC=c.3252G>A;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:241,3:120/124:119/122,1/2:2:0.3 chr17 40403057 . G A 0.0 lowQ DP=365;TI=NM_001067.3;GI=TOP2A;FC=Silent;DC=c.2284-3C>T;LO=INTRON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:361,4:170/195:168/193,2/2:1:0.1 chr17 40404142 . G A 0.0 lowQ DP=283;TI=NM_001067.3;GI=TOP2A;FC=Silent;DC=c.2283+10C>T;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:280,3:152/131:150/130,2/1:2:0.2 chr17 40406408 . A C 0.0 sb.s DP=361;TI=NM_001067.3;GI=TOP2A;FC=Synonymous;PC=P643=;DC=c.1929T>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.064:338,23:185/176:162/176,23/0:59:INF chr17 40416904 . T TA 0.0 R8.1;lowQ;NC DP=352;TI=NM_001067.3;GI=TOP2A;FC=Noncoding;DC=c.22-10dupT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:341,7:163/189:158/183,3/4:1:NA chr17 40416904 . TA T 0.0 R8.1;lowQ;NC DP=352;TI=NM_001067.3;GI=TOP2A;FC=Noncoding;DC=c.22-10delT;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:341,4:163/189:158/183,2/2:1:NA chr17 40628894 . CT C 0.0 lowQ DP=2295;TI=NM_003079.4;GI=SMARCE1;FC=Frameshift;PC=S376fs;DC=c.1126delA;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:2247,48:1202/1093:1174/1073,28/20:4:NA chr17 40636003 . T G 0.0 lowQ DP=1454;TI=NM_003079.4;GI=SMARCE1;FC=Missense;PC=S157R;DC=c.469A>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:1431,23:768/686:758/673,10/13:4:0.2 chr17 42207633 . A C 0.0 lowQ DP=469;TI=NM_012448.3;GI=STAT5B;FC=Missense;PC=Y668D;DC=c.2002T>G;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:462,7:229/240:225/237,4/3:2:0.1 chr17 42210465 . C A 0.0 lowQ DP=410;TI=NM_012448.3;GI=STAT5B;FC=Missense;PC=W571C;DC=c.1713G>T;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:405,5:186/224:183/222,3/2:3:0.3 chr17 42217255 . G A 0.0 lowQ DP=306;TI=NM_012448.3;GI=STAT5B;FC=Missense;PC=R429C;DC=c.1285C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:302,4:184/122:182/120,2/2:2:0.2 chr17 42217272 . C T 0.0 lowQ DP=331;TI=NM_012448.3;GI=STAT5B;FC=Missense;PC=R423Q;DC=c.1268G>A;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:327,4:188/143:186/141,2/2:1:0.1 chr17 42218217 . TG T 0.0 lowQ DP=3153;TI=NM_012448.3;GI=STAT5B;FC=Frameshift;PC=Q368fs;DC=c.1102delC;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:3068,56:1597/1556:1551/1517,29/27:1:NA chr17 42232021 . T C 0.0 lowQ DP=370;TI=NM_012448.3;GI=STAT5B;FC=Missense;PC=Q36R;DC=c.107A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:365,5:193/177:190/175,3/2:1:0.1 chr17 43071077 rs1799966 T C 0.0 Benign DP=2467;TI=NM_007294.3;GI=BRCA1;FC=Missense;PC=S1613G;DC=c.4837A>G;LO=EXON;EXON=15;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,2463:1253/1212:1/1,1252/1211:0:0.0 chr17 43074549 . C G 0.0 . DP=3183;TI=NM_007294.3;GI=BRCA1;FC=Silent;DC=c.4485-28G>C;LO=INTRON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.478:1655,1522:1583/1600:825/830,756/766:0:0.0 chr17 43074550 . A G 0.0 sb;lowQ DP=3238;TI=NM_007294.3;GI=BRCA1;FC=Silent;DC=c.4485-29T>C;LO=INTRON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:3190,44:1630/1608:1599/1591,29/15:14:0.3 chr17 43082453 rs1060915 A G 0.0 . DP=2403;TI=NM_007294.3;GI=BRCA1;FC=Synonymous;PC=S1436=;DC=c.4308T>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,2401:1196/1206:1/0,1195/1206:0:INF chr17 43090921 . GCA G 0.0 lowQ;Benign DP=2813;TI=NM_007294.3;GI=BRCA1;FC=Noncoding;DC=c.4185+21_4185+22delTG;LO=INTRON;EXON=11;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.013:2757,36:1424/1387:1396/1361,20/16:3:NA chr17 43091983 rs16942 T C 0.0 Benign DP=1920;TI=NM_007294.3;GI=BRCA1;FC=Missense;PC=K1183R;DC=c.3548A>G;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,1918:945/975:1/1,944/974:0:0.0 chr17 43092418 rs16941 T C 0.0 Benign DP=1599;TI=NM_007294.3;GI=BRCA1;FC=Missense;PC=E1038G;DC=c.3113A>G;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,1597:806/793:0/1,805/792:0:INF chr17 43092919 rs799917 G A 0.0 Benign DP=1684;TI=NM_007294.3;GI=BRCA1;FC=Missense;PC=P871L;DC=c.2612C>T;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1684:879/805:0/0,879/805:0:INF chr17 43093220 rs16940 A G 0.0 . DP=1659;TI=NM_007294.3;GI=BRCA1;FC=Synonymous;PC=L771=;DC=c.2311T>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,1657:817/842:1/1,816/841:0:0.0 chr17 43093449 rs1799949 G A 0.0 . DP=1594;TI=NM_007294.3;GI=BRCA1;FC=Synonymous;PC=S694=;DC=c.2082C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,1592:784/810:1/1,783/809:0:0.0 chr17 43094293 . A G 0.0 lowQ DP=1923;TI=NM_007294.3;GI=BRCA1;FC=Missense;PC=L413S;DC=c.1238T>C;LO=EXON;EXON=10;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.018:1888,35:984/939:962/926,22/13:8:0.2 chr17 43545265 . G T 0.0 sb;lowQ DP=470;TI=NM_001079675.2;GI=ETV4;FC=Silent;DC=c.154+9C>A;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:460,8:222/248:214/246,7/1:17:0.9 chr17 50375415 rs3760413 A C 0.0 rs DP=714;TI=NM_001166131.1;GI=EME1;FC=Missense;PC=E69D;DC=c.207A>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.483:369,345:337/377:175/194,162/183:0:0.0 chr17 50375617 rs558756129 A AAGC 0.0 rs DP=624;TI=NM_001166131.1;GI=EME1;FC=CODON_INSERTION;PC=K137_P138insQ;DC=c.410_412dupAGC;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.455:339,284:330/294:172/167,157/127:6:NA chr17 50380878 rs566079135 G A 0.0 rs DP=1178;TI=NM_001166131.1;GI=EME1;FC=Missense;PC=R564K;DC=c.1691G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.454:641,535:539/639:292/349,246/289:1:0.0 chr17 57257110 . C A 0.0 sb;lowQ DP=470;TI=NM_138962.3;GI=MSI2;FC=Synonymous;PC=I25=;DC=c.75C>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:462,8:291/179:283/179,8/0:16:INF chr17 57262137 . AT A 0.0 lowQ;NC DP=241;TI=NM_138962.3;GI=MSI2;FC=Noncoding;DC=c.271-6delT;LO=INTRON;EXON=5;oriDC=c.271-13delT GT:VF:AD:SB:SA:SP:SO 0/1:0.017:237,4:134/107:132/105,2/2:1:NA chr17 58370936 rs2257205 C T 0.0 Benign DP=6257;TI=NM_017763.5;GI=RNF43;FC=Missense;PC=R117H;DC=c.350G>A;LO=EXON;EXON=3;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.997:3,6238:3353/2894:2/1,3348/2890:2:0.2 chr17 60647880 rs9889886 C A 0.0 rs DP=306;TI=NM_003620.3;GI=PPM1D;FC=Silent;DC=c.827-12C>A;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,306:175/131:0/0,175/131:0:INF chr17 60663044 . C T 0.0 lowQ DP=367;TI=NM_003620.3;GI=PPM1D;FC=Missense;PC=P437L;DC=c.1310C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:363,4:189/178:187/176,2/2:0:0.0 chr17 60663282 . A G 0.0 lowQ DP=539;TI=NM_003620.3;GI=PPM1D;FC=Synonymous;PC=S516=;DC=c.1548A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:533,6:277/262:274/259,3/3:0:0.0 chr17 61683635 rs4986763 A G 0.0 . DP=1489;TI=NM_032043.2;GI=BRIP1;FC=Synonymous;PC=Y1137=;DC=c.3411T>C;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 1/1:0.996:4,1483:742/747:2/2,739/744:0:0.0 chr17 61685986 rs4986764 A G 0.0 Benign DP=1633;TI=NM_032043.2;GI=BRIP1;FC=Missense;PC=S919P;DC=c.2755T>C;LO=EXON;EXON=19;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,1629:822/811:1/1,820/809:0:0.0 chr17 61686104 rs4986765 T C 0.0 . DP=1432;TI=NM_032043.2;GI=BRIP1;FC=Synonymous;PC=E879=;DC=c.2637A>G;LO=EXON;EXON=19 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1432:675/757:0/0,675/757:0:INF chr17 61716065 . T A 0.0 lowQ DP=184;TI=NM_032043.2;GI=BRIP1;FC=Splicing;DC=c.2380-2A>T;LO=SPLICING;EXON=17;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.016:181,3:62/122:60/121,2/1:7:0.6 chr17 63930138 rs2070776 A G 0.0 . DP=7223;TI=NM_000626.3;GI=CD79B;FC=Synonymous;PC=C122=;DC=c.366T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,7219:3768/3455:2/0,3765/3454:0:INF chr17 65053517 . A T 0.0 lowQ DP=1465;TI=NM_006572.5;GI=GNA13;FC=Synonymous;PC=R165=;DC=c.495T>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:1432,33:797/668:777/655,20/13:3:0.1 chr17 65053520 . C T 0.0 lowQ DP=1555;TI=NM_006572.5;GI=GNA13;FC=Synonymous;PC=R164=;DC=c.492G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:1504,50:848/706:819/685,29/21:2:0.1 chr17 65536399 rs35415678 G A 0.0 sb DP=7595;TI=NM_004655.3;GI=AXIN2;FC=Synonymous;PC=L688=;DC=c.2062C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.480:3944,3649:3883/3712:1955/1989,1928/1721:24:0.1 chr17 65537614 . ATGG A 0.0 lowQ DP=8352;TI=NM_004655.3;GI=AXIN2;FC=CODON_DELETION;PC=H474del;DC=c.1419_1421delCCA;LO=EXON;EXON=6;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.017:8191,145:4111/4241:4026/4165,76/69:4:NA chr17 65537650 rs1133683 G A 0.0 . DP=8897;TI=NM_004655.3;GI=AXIN2;FC=Synonymous;PC=P462=;DC=c.1386C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:4487,4408:4457/4440:2241/2246,2215/2193:1:0.0 chr17 65537671 rs9915936 T C 0.0 . DP=8725;TI=NM_004655.3;GI=AXIN2;FC=Synonymous;PC=P455=;DC=c.1365A>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:10,8706:4302/4422:5/5,4293/4413:0:0.0 chr17 65558032 . G C 0.0 sb;lowQ DP=5155;TI=NM_004655.3;GI=AXIN2;FC=Missense;PC=L197V;DC=c.589C>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:5060,93:2579/2576:2546/2514,32/61:26:0.3 chr17 65558473 rs2240308 G A 0.0 Benign DP=8946;TI=NM_004655.3;GI=AXIN2;FC=Missense;PC=P50S;DC=c.148C>T;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.497:4497,4444:4523/4423:2283/2214,2238/2206:2:0.0 chr17 72122794 rs2229989 C T 0.0 rs DP=2500;TI=NM_000346.3;GI=SOX9;FC=Synonymous;PC=H169=;DC=c.507C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:1,2499:1276/1224:0/1,1276/1223:0:INF chr17 72123568 . A C 0.0 sb.s;lowQ DP=866;TI=NM_000346.3;GI=SOX9;FC=Synonymous;PC=P237=;DC=c.711A>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.036:835,31:225/641:194/641,31/0:200:INF chr17 72123572 . A C 0.0 sb.s;lowQ;Benign DP=842;TI=NM_000346.3;GI=SOX9;FC=Missense;PC=T239P;DC=c.715A>C;LO=EXON;EXON=3;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.038:809,32:218/624:186/623,32/0:200:INF chr17 72123581 . A C 0.0 sb.s;Benign DP=882;TI=NM_000346.3;GI=SOX9;FC=Missense;PC=K242Q;DC=c.724A>C;LO=EXON;EXON=3;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.063:825,56:209/673:154/671,55/1:200:2.4 chr17 72123587 . G C 0.0 sb.s;Benign DP=884;TI=NM_000346.3;GI=SOX9;FC=Missense;PC=D244H;DC=c.730G>C;LO=EXON;EXON=3;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.060:829,53:174/710:119/710,53/0:200:INF chr17 72123955 . C T 0.0 lowQ DP=1072;TI=NM_000346.3;GI=SOX9;FC=Synonymous;PC=P366=;DC=c.1098C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1061,11:566/506:560/501,6/5:0:0.0 chr17 76736425 rs237058 A G 0.0 rs DP=2929;TI=NM_003016.4;GI=SRSF2;FC=Synonymous;PC=S134=;DC=c.402T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,2927:1411/1518:0/1,1410/1517:0:INF chr17 76737017 rs237057 G A 0.0 rs DP=1119;TI=NM_003016.4;GI=SRSF2;FC=Synonymous;PC=D48=;DC=c.144C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1119:569/550:0/0,569/550:0:INF chr17 80846529 rs3751945 C T 0.0 rs DP=2183;TI=NM_020761.2;GI=RPTOR;FC=Synonymous;PC=G423=;DC=c.1269C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2183:1079/1104:0/0,1079/1104:0:INF chr17 80880423 rs2289759 A G 0.0 rs DP=1304;TI=NM_020761.2;GI=RPTOR;FC=Synonymous;PC=Q506=;DC=c.1518A>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1303:680/624:0/0,680/623:0:INF chr17 80945758 rs1567962 C T 0.0 rs DP=1771;TI=NM_020761.2;GI=RPTOR;FC=Synonymous;PC=A1039=;DC=c.3117C>T;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,1769:928/843:1/1,927/842:0:0.0 chr17 80947317 rs4969231 C T 0.0 rs DP=1806;TI=NM_020761.2;GI=RPTOR;FC=Synonymous;PC=N1077=;DC=c.3231C>T;LO=EXON;EXON=27 GT:VF:AD:SB:SA:SP:SO 0/1:0.461:974,832:897/909:490/484,407/425:3:0.0 chr17 80961397 rs9899178 C T 0.0 rs DP=762;TI=NM_020761.2;GI=RPTOR;FC=Synonymous;PC=R1203=;DC=c.3609C>T;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.479:397,365:388/374:199/198,189/176:2:0.0 chr17 81983635 rs11539917 C T 0.0 rs DP=1982;TI=NM_024083.3;GI=ASPSCR1;FC=Synonymous;PC=P80=;DC=c.240C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.449:1092,889:978/1004:541/551,436/453:1:0.0 chr17 81996668 rs8074498 T A 0.0 rs DP=1662;TI=NM_024083.3;GI=ASPSCR1;FC=Missense;PC=L252Q;DC=c.755T>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:0.996:2,1656:888/772:1/1,886/770:0:0.1 chr17 82016855 rs13087 T C 0.0 rs DP=2521;TI=NM_024083.3;GI=ASPSCR1;FC=Synonymous;PC=D487=;DC=c.1461T>C;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:1,2520:1322/1199:1/0,1321/1199:0:INF chr18 724612 rs537141 A G 0.0 . DP=424;TI=NM_005433.3;GI=YES1;FC=Synonymous;PC=L482=;DC=c.1444T>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,424:192/232:0/0,192/232:0:INF chr18 743064 . T C 0.0 lowQ DP=356;TI=NM_005433.3;GI=YES1;FC=Missense;PC=K305R;DC=c.914A>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:352,4:167/189:165/187,2/2:0:0.1 chr18 743274 . C A 0.0 lowQ DP=466;TI=NM_005433.3;GI=YES1;FC=Missense;PC=G289V;DC=c.866G>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:455,5:242/224:237/218,2/3:2:0.2 chr18 743274 . C T 0.0 lowQ DP=466;TI=NM_005433.3;GI=YES1;FC=Missense;PC=G289D;DC=c.866G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:455,6:242/224:237/218,3/3:0:0.0 chr18 743278 . A T 0.0 lowQ DP=480;TI=NM_005433.3;GI=YES1;FC=Missense;PC=F288I;DC=c.862T>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:471,9:246/234:241/230,5/4:1:0.1 chr18 743281 . A G 0.0 lowQ DP=478;TI=NM_005433.3;GI=YES1;FC=Missense;PC=C287R;DC=c.859T>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:471,7:246/232:242/229,4/3:1:0.1 chr18 751695 . T C 0.0 lowQ DP=300;TI=NM_005433.3;GI=YES1;FC=Silent;DC=c.371+10A>G;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:296,4:156/144:154/142,2/2:0:0.0 chr18 22172111 . TACC T 0.0 sb;lowQ;Benign DP=2048;TI=NM_005257.5;GI=GATA6;FC=CODON_DELETION;PC=H333del;DC=c.996_998delCCA;LO=EXON;EXON=2;oriDC=c.968_970delACC;oriPC=H324del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.033:1957,67:1008/1040:977/980,22/45:22:NA chr18 22172143 . T A 0.0 sb.s;lowQ DP=1405;TI=NM_005257.5;GI=GATA6;FC=Missense;PC=H333Q;DC=c.999T>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.034:1353,48:371/1032:323/1030,48/0:200:INF chr18 22968824 . T C 0.0 lowQ DP=376;TI=NM_203291.1;GI=RBBP8;FC=Synonymous;PC=C89=;DC=c.267T>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:372,4:189/187:187/185,2/2:0:0.0 chr18 22992889 . G GA 0.0 R8.1;lowQ DP=601;TI=NM_203291.1;GI=RBBP8;FC=Frameshift;PC=H358fs;DC=c.1071dupA;LO=EXON;EXON=11;oriDC=c.1063dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.022:588,13:287/314:281/307,6/7:0:NA chr18 22992898 rs34678569 A C 0.0 rs DP=601;TI=NM_203291.1;GI=RBBP8;FC=Missense;PC=K357N;DC=c.1071A>C;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.491:306,295:275/326:140/166,135/160:0:0.0 chr18 22993274 . G A 0.0 lowQ DP=336;TI=NM_203291.1;GI=RBBP8;FC=Missense;PC=G483R;DC=c.1447G>A;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:330,4:171/165:168/162,2/2:0:0.0 chr18 22996379 . T C 0.0 lowQ DP=385;TI=NM_203291.1;GI=RBBP8;FC=Missense;PC=S649P;DC=c.1945T>C;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:381,4:207/178:205/176,2/2:1:0.1 chr18 22997706 rs17852769 G A 0.0 rs DP=172;TI=NM_203291.1;GI=RBBP8;FC=Synonymous;PC=K705=;DC=c.2115G>A;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,172:90/82:0/0,90/82:0:INF chr18 23016906 . G A 0.0 lowQ DP=267;TI=NM_203291.1;GI=RBBP8;FC=Synonymous;PC=T812=;DC=c.2436G>A;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:264,3:135/132:133/131,2/1:2:0.3 chr18 25062752 . CAAAAA C 0.0 R8.1;lowQ;NC DP=34;TI=NM_015461.2;GI=ZNF521;FC=Noncoding;DC=c.3907-16_3907-12delTTTTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.118:22,4:27/6:16/6,4/0:6:NA chr18 25062752 . CAAAAAA C 0.0 R8.1;lowQ;NC DP=34;TI=NM_015461.2;GI=ZNF521;FC=Noncoding;DC=c.3907-17_3907-12delTTTTTT;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.118:22,4:27/6:16/6,4/0:6:NA chr18 44952728 rs1064204 C A 0.0 rs DP=1678;TI=NM_015559.2;GI=SETBP1;FC=Missense;PC=P1130T;DC=c.3388C>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.495:848,830:835/843:421/427,414/416:0:0.0 chr18 44953165 rs8096662 A G 0.0 rs DP=1416;TI=NM_015559.2;GI=SETBP1;FC=Synonymous;PC=S1275=;DC=c.3825A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,1414:678/738:0/1,677/737:0:INF chr18 44953350 rs3786177 T A 0.0 rs DP=720;TI=NM_015559.2;GI=SETBP1;FC=Silent;DC=c.4000+10T>A;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.483:372,348:301/419:160/212,141/207:3:0.0 chr18 51065529 . G C 0.0 lowQ DP=2582;TI=NM_005359.5;GI=SMAD4;FC=Synonymous;PC=V354=;DC=c.1062G>C;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:2548,34:1228/1354:1208/1340,20/14:7:0.2 chr18 58696364 . A T 0.0 sb.s;lowQ DP=48;TI=NM_173844.2;GI=MALT1;FC=Splicing;DC=c.377-2A>T;LO=SPLICING;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.062:44,3:14/33:11/33,3/0:22:INF chr18 58696378 . C A 0.0 sb.s;lowQ DP=69;TI=NM_173844.2;GI=MALT1;FC=Missense;PC=T130N;DC=c.389C>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.058:65,4:23/46:19/46,4/0:24:INF chr18 58723033 . C CT 0.0 R8.1;lowQ;NC DP=206;TI=NM_173844.2;GI=MALT1;FC=Noncoding;DC=c.986-6dupT;LO=INTRON;EXON=9;oriDC=c.986-14dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.029:200,6:121/85:117/83,4/2:2:NA chr18 58723254 . A G 0.0 lowQ DP=257;TI=NM_173844.2;GI=MALT1;FC=Silent;DC=c.1189+3A>G;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:253,4:113/144:111/142,2/2:1:0.1 chr18 58733411 . G A 0.0 lowQ DP=386;TI=NM_173844.2;GI=MALT1;FC=Missense;PC=A402T;DC=c.1204G>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:382,4:198/188:196/186,2/2:0:0.0 chr18 58744418 . A G 0.0 lowQ DP=371;TI=NM_173844.2;GI=MALT1;FC=Missense;PC=M601V;DC=c.1801A>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:367,4:168/203:166/201,2/2:1:0.1 chr18 58744475 . T G 0.0 lowQ DP=278;TI=NM_173844.2;GI=MALT1;FC=Missense;PC=Y620D;DC=c.1858T>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:273,5:117/161:115/158,2/3:0:0.0 chr18 58745650 . AT A 0.0 R8.1;lowQ;NC DP=229;TI=NM_173844.2;GI=MALT1;FC=Noncoding;DC=c.1879-5delT;LO=INTRON;EXON=15;oriDC=c.1879-15delT GT:VF:AD:SB:SA:SP:SO 0/1:0.039:205,9:119/110:105/100,5/4:1:NA chr18 58745651 . T A 0.0 lowQ DP=227;TI=NM_173844.2;GI=MALT1;FC=Silent;DC=c.1879-15T>A;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:214,4:111/107:109/105,2/2:0:0.0 chr18 63318646 rs1801018 T C 0.0 . DP=5820;TI=NM_000633.2;GI=BCL2;FC=Synonymous;PC=T7=;DC=c.21A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.503:2887,2929:2776/3042:1393/1494,1382/1547:4:0.0 chr18 63355558 rs2003149 C T 0.0 rs DP=357;TI=NM_002035.2;GI=KDSR;FC=Synonymous;PC=V87=;DC=c.261G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.465:191,166:173/184:92/99,81/85:0:0.0 chr18 63655761 rs1065205 T C 0.0 rs DP=922;TI=NM_006919.2;GI=SERPINB3;FC=Missense;PC=T357A;DC=c.1069A>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.486:474,448:501/421:260/214,241/207:1:0.0 chr18 63658551 . C T 0.0 lowQ DP=334;TI=NM_006919.2;GI=SERPINB3;FC=Missense;PC=R144Q;DC=c.431G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:330,4:156/178:154/176,2/2:0:0.1 chr18 63659394 rs11370831 A AT 0.0 NC;rs DP=301;TI=NM_006919.2;GI=SERPINB3;FC=Noncoding;DC=c.351+4dupA;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:1,300:170/131:1/0,169/131:0:NA chr19 676508 . T G 0.0 sb;lowQ DP=1230;TI=NM_005860.2;GI=FSTL3;FC=Missense;PC=S29A;DC=c.85T>G;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.019:1207,23:802/428:793/414,9/14:21:0.5 chr19 1611857 rs62130064 G A 0.0 rs DP=2644;TI=NM_003200.4;GI=TCF3;FC=Silent;DC=c.1823-8C>T;LO=INTRON;EXON=19 GT:VF:AD:SB:SA:SP:SO 0/1:0.494:1336,1307:1513/1131:774/562,738/569:4:0.0 chr19 1619334 rs1140828 G A 0.0 rs DP=2119;TI=NM_003200.4;GI=TCF3;FC=Synonymous;PC=G436=;DC=c.1308C>T;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:4,2114:1079/1040:2/2,1077/1037:0:0.0 chr19 1619340 rs8140 T C 0.0 rs DP=2164;TI=NM_003200.4;GI=TCF3;FC=Synonymous;PC=S434=;DC=c.1302A>G;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,2161:1105/1059:1/0,1103/1058:0:INF chr19 1619348 . GGCC GACT 0.0 Benign DP=2084;MergedVar=1619349/G/A,1619351/C/T;TI=NM_003200.4;GI=TCF3;FC=Missense;PC=G431S;DC=c.1291_1293delinsAGT;LO=EXON;EXON=15;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.468:1102,974:1046/1029:563/538,483/491:0:0.0 chr19 1619483 . T G 0.0 sb.s;lowQ DP=1260;TI=NM_003200.4;GI=TCF3;FC=Silent;DC=c.1168-9A>C;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:1220,38:747/513:746/474,0/38:134:INF chr19 1624008 rs55677929 A G 0.0 rs DP=1359;TI=NM_003200.4;GI=TCF3;FC=Silent;DC=c.500-8T>C;LO=INTRON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.481:705,654:649/710:333/372,316/338:2:0.0 chr19 2226859 . GGCGGCGTCCTCCGCAGGCGGC G 0.0 Benign DP=1468;TI=NM_032482.2;GI=DOT1L;FC=CODON_DELETION;PC=G1452_A1458del;DC=c.4353_4373del21;LO=EXON;EXON=27;oriDC=c.4339_4359del21;oriPC=A1447_G1453del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.457:797,671:757/711:419/378,338/333:0:INF chr19 3119241 rs4900 C T 0.0 . DP=8174;TI=NM_002067.4;GI=GNA11;FC=Synonymous;PC=T257=;DC=c.771C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.514:3965,4199:4173/4001:2022/1943,2147/2052:0:0.0 chr19 3119367 . G C 0.0 sb DP=7645;TI=NM_002067.4;GI=GNA11;FC=Silent;DC=c.889+8G>C;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.432:4333,3302:3717/3924:2058/2275,1656/1646:17:0.0 chr19 4101064 rs10250 G T 0.0 . DP=7775;TI=NM_030662.3;GI=MAP2K2;FC=Synonymous;PC=I220=;DC=c.660C>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:2,7772:4077/3698:1/1,4075/3697:0:0.0 chr19 4117530 rs8157 G A 0.0 . DP=7694;TI=NM_030662.3;GI=MAP2K2;FC=Synonymous;PC=V64=;DC=c.192C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.491:3920,3774:3896/3798:1991/1929,1905/1869:1:0.0 chr19 6586257 rs1862511 G A 0.0 rs DP=2047;TI=NM_001252.4;GI=CD70;FC=Synonymous;PC=C115=;DC=c.345C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.469:1084,960:1016/1031:549/535,466/494:5:0.0 chr19 10352554 . A C 0.0 sb.s;lowQ DP=808;TI=NM_003331.4;GI=TYK2;FC=Silent;DC=c.3201-3T>G;LO=INTRON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:782,26:547/261:547/235,0/26:132:INF chr19 10354167 rs35018800 G A 0.0 rs DP=2844;TI=NM_003331.4;GI=TYK2;FC=Missense;PC=A928V;DC=c.2783C>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.439:1593,1249:1344/1498:758/835,586/663:1:0.0 chr19 10362257 rs280519 A G 0.0 rs DP=3136;TI=NM_003331.4;GI=TYK2;FC=Silent;DC=c.1669+7T>C;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.471:1660,1476:1627/1509:875/785,752/724:5:0.0 chr19 10364976 rs2304256 C A 0.0 rs DP=2420;TI=NM_003331.4;GI=TYK2;FC=Missense;PC=V362F;DC=c.1084G>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.508:1190,1229:1148/1272:565/625,583/646:0:0.0 chr19 10489766 rs1048290 G C 0.0 . DP=8287;TI=NM_012289.3;GI=KEAP1;FC=Synonymous;PC=L471=;DC=c.1413C>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.491:4207,4073:4038/4249:2061/2146,1973/2100:2:0.0 chr19 11105604 . T G 0.0 sb.s;lowQ DP=1059;TI=NM_000527.4;GI=LDLR;FC=Silent;DC=c.694+4T>G;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.044:1012,47:693/366:693/319,0/47:200:INF chr19 11110781 rs12710260 G C 0.0 rs DP=1054;TI=NM_000527.4;GI=LDLR;FC=Silent;DC=c.1060+10G>C;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.486:542,512:441/613:225/317,216/296:1:0.0 chr19 11113589 rs5930 A G 0.0 rs DP=1710;TI=NM_000527.4;GI=LDLR;FC=Synonymous;PC=R471=;DC=c.1413A>G;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1708:822/888:0/0,821/887:0:INF chr19 11116926 rs688 C T 0.0 rs DP=1202;TI=NM_000527.4;GI=LDLR;FC=Synonymous;PC=N591=;DC=c.1773C>T;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.449:662,540:586/616:322/340,264/276:0:0.0 chr19 11120205 rs5925 T C 0.0 rs DP=1206;TI=NM_000527.4;GI=LDLR;FC=Synonymous;PC=V653=;DC=c.1959T>C;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.488:617,589:632/574:325/292,307/282:1:0.0 chr19 11123265 rs5927 A G 0.0 rs DP=1824;TI=NM_000527.4;GI=LDLR;FC=Synonymous;PC=R744=;DC=c.2232A>G;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1824:926/898:0/0,926/898:0:INF chr19 14518338 rs3962158 G A 0.0 rs DP=1791;TI=NM_006145.2;GI=DNAJB1;FC=Synonymous;PC=D4=;DC=c.12C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.485:922,869:818/973:417/505,401/468:2:0.0 chr19 15160960 rs1044009 G A 0.0 rs DP=1536;TI=NM_000435.2;GI=NOTCH3;FC=Missense;PC=A2223V;DC=c.6668C>T;LO=EXON;EXON=33 GT:VF:AD:SB:SA:SP:SO 0/1:0.474:808,728:753/783:395/413,358/370:0:0.0 chr19 15162570 rs4809030 A G 0.0 rs DP=686;TI=NM_000435.2;GI=NOTCH3;FC=Silent;DC=c.5816-8T>C;LO=INTRON;EXON=32 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,686:332/354:0/0,332/354:0:INF chr19 15167246 rs1548555 A G 0.0 rs DP=2037;TI=NM_000435.2;GI=NOTCH3;FC=Silent;DC=c.5362+3T>C;LO=INTRON;EXON=29 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2037:1132/905:0/0,1132/905:0:INF chr19 15174241 rs1044006 T C 0.0 rs DP=1900;TI=NM_000435.2;GI=NOTCH3;FC=Synonymous;PC=P1521=;DC=c.4563A>G;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:2,1896:974/926:1/1,972/924:0:0.0 chr19 15177769 . A G 0.0 lowQ DP=776;TI=NM_000435.2;GI=NOTCH3;FC=Missense;PC=C1387R;DC=c.4159T>C;LO=EXON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:763,13:379/397:374/389,5/8:3:0.2 chr19 15178952 rs78907190 G A 0.0 rs DP=2699;TI=NM_000435.2;GI=NOTCH3;FC=Silent;DC=c.3719-11C>T;LO=INTRON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.488:1382,1317:1401/1298:724/658,677/640:2:0.0 chr19 15181626 rs1043997 T C 0.0 rs DP=1950;TI=NM_000435.2;GI=NOTCH3;FC=Synonymous;PC=P914=;DC=c.2742A>G;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1948:1080/870:0/0,1079/869:0:INF chr19 15184323 rs1043996 G A 0.0 rs DP=1505;TI=NM_000435.2;GI=NOTCH3;FC=Synonymous;PC=C846=;DC=c.2538C>T;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.507:742,763:806/699:397/345,409/354:0:0.0 chr19 15192033 rs1043994 T C 0.0 rs DP=2481;TI=NM_000435.2;GI=NOTCH3;FC=Synonymous;PC=A202=;DC=c.606A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:8,2473:1261/1220:4/4,1257/1216:0:0.0 chr19 15192414 rs3815188 G A 0.0 rs DP=3285;TI=NM_000435.2;GI=NOTCH3;FC=Synonymous;PC=T101=;DC=c.303C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.507:1617,1667:1630/1655:803/814,827/840:0:0.0 chr19 15200807 . TAGC T 0.0 lowQ DP=863;TI=NM_000435.2;GI=NOTCH3;FC=CODON_DELETION;PC=L33del;DC=c.96_98delGCT;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:851,12:446/417:440/411,6/6:0:NA chr19 15200870 . ACGG A 0.0 lowQ DP=891;TI=NM_000435.2;GI=NOTCH3;FC=CODON_DELETION;PC=R12del;DC=c.33_35delCCG;LO=EXON;EXON=1;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.013:879,12:422/469:416/463,6/6:1:NA chr19 15265488 . T G 0.0 . DP=2086;TI=NM_014299.2;GI=BRD4;FC=Missense;PC=M239L;DC=c.715A>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.518:1005,1081:1079/1007:528/477,551/530:3:0.0 chr19 17834569 . A C 0.0 sb.s;lowQ DP=3383;TI=NM_000215.3;GI=JAK3;FC=Splicing;DC=c.2350+2T>G;LO=SPLICING;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.034:3269,114:1015/2368:902/2367,113/1:200:2.5 chr19 17834693 . T A 0.0 lowQ DP=6413;TI=NM_000215.3;GI=JAK3;FC=Missense;PC=Q743L;DC=c.2228A>T;LO=EXON;EXON=17;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.012:6339,74:3020/3393:2984/3355,36/38:1:0.0 chr19 17836061 rs1246388414 A AG 0.0 Benign DP=4228;TI=NM_000215.3;GI=JAK3;FC=Noncoding;DC=c.1787-11dupC;LO=INTRON;EXON=14;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.508:2080,2148:1847/2381:915/1165,932/1216:2:NA chr19 18161380 rs2241088 A C 0.0 Benign DP=4018;TI=NM_005027.3;GI=PIK3R2;FC=Missense;PC=S234R;DC=c.700A>C;LO=EXON;EXON=6;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,4014:1971/2045:1/0,1970/2044:0:INF chr19 18162237 rs1011320 T C 0.0 Benign DP=6733;TI=NM_005027.3;GI=PIK3R2;FC=Missense;PC=S313P;DC=c.937T>C;LO=EXON;EXON=8;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,6727:3542/3190:0/1,3540/3187:0:INF chr19 18168712 . G C 0.0 sb.s;lowQ DP=3808;TI=NM_005027.3;GI=PIK3R2;FC=Silent;DC=c.1809-14G>C;LO=INTRON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.046:3619,177:979/2827:801/2818,176/1:200:2.8 chr19 18168828 rs273269 T C 0.0 . DP=7972;TI=NM_005027.3;GI=PIK3R2;FC=Synonymous;PC=S637=;DC=c.1911T>C;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:6,7959:3776/4196:3/3,3771/4188:0:0.0 chr19 18169286 rs149081991 G A 0.0 Benign DP=4587;TI=NM_005027.3;GI=PIK3R2;FC=Missense;PC=A727T;DC=c.2179G>A;LO=EXON;EXON=16;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.486:2359,2228:2114/2473:1093/1266,1021/1207:1:0.0 chr19 18765398 rs79054960 C G 0.0 rs DP=1870;TI=NM_015321.2;GI=CRTC1;FC=Silent;DC=c.887-6C>G;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.507:922,948:1029/841:508/414,521/427:0:0.0 chr19 18768622 . G C 0.0 sb.s;lowQ DP=1067;TI=NM_015321.2;GI=CRTC1;FC=Synonymous;PC=P383=;DC=c.1149G>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.041:1019,44:103/964:58/961,44/0:200:INF chr19 18768625 . A C 0.0 sb.s;lowQ DP=1030;TI=NM_015321.2;GI=CRTC1;FC=Synonymous;PC=P384=;DC=c.1152A>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:998,31:100/930:70/928,30/1:200:2.6 chr19 18777182 . T TC 0.0 lowQ DP=1082;TI=NM_015321.2;GI=CRTC1;FC=Frameshift;PC=S572fs;DC=c.1713dupC;LO=EXON;EXON=14;oriDC=c.1706dupC GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1049,14:477/605:462/587,5/9:3:NA chr19 18777182 . TC T 0.0 lowQ DP=1082;TI=NM_015321.2;GI=CRTC1;FC=Frameshift;PC=S572fs;DC=c.1713delC;LO=EXON;EXON=14;oriDC=c.1706delC GT:VF:AD:SB:SA:SP:SO 0/1:0.018:1049,19:477/605:462/587,10/9:3:NA chr19 19146330 . A T 0.0 sb.s;lowQ DP=3107;TI=NM_001145785.1;GI=MEF2B;FC=Missense;PC=L275Q;DC=c.824T>A;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:3008,96:2597/510:2596/412,0/96:200:INF chr19 29820713 . C T 0.0 lowQ DP=231;TI=NM_001238.3;GI=CCNE1;FC=Synonymous;PC=V158=;DC=c.474C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:227,4:124/107:121/106,3/1:4:0.4 chr19 29820718 . A G 0.0 lowQ DP=258;TI=NM_001238.3;GI=CCNE1;FC=Missense;PC=K160R;DC=c.479A>G;LO=EXON;EXON=7;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.012:255,3:143/115:141/114,2/1:2:0.2 chr19 29820763 . G A 0.0 lowQ DP=385;TI=NM_001238.3;GI=CCNE1;FC=Missense;PC=R175Q;DC=c.524G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:379,6:206/179:202/177,4/2:3:0.2 chr19 29823759 rs7257694 C T 0.0 rs DP=1955;TI=NM_001238.3;GI=CCNE1;FC=Synonymous;PC=S405=;DC=c.1215C>T;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 0/1:0.482:1013,942:1001/954:523/490,478/464:2:0.0 chr19 31277510 rs3745784 A G 0.0 rs DP=1759;TI=NM_020856.3;GI=TSHZ3;FC=Synonymous;PC=A761=;DC=c.2283T>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1757:944/815:0/0,943/814:0:INF chr19 31279103 rs28609894 C T 0.0 rs DP=1701;TI=NM_020856.3;GI=TSHZ3;FC=Synonymous;PC=T230=;DC=c.690G>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.462:910,786:827/874:423/487,401/385:12:0.1 chr19 33301825 . G GGCGGGT 0.0 Benign DP=763;TI=NM_004364.4;GI=CEBPA;FC=CODON_INSERTION;PC=H195_P196dup;DC=c.584_589dupACCCGC;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.476:400,363:354/409:186/214,168/195:0:INF chr19 33301847 . A G 0.0 lowQ DP=778;TI=NM_004364.4;GI=CEBPA;FC=Missense;PC=S190P;DC=c.568T>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.026:756,20:388/390:375/381,12/8:4:0.2 chr19 33301848 . GGGC G 0.0 lowQ;Benign DP=836;TI=NM_004364.4;GI=CEBPA;FC=CODON_DELETION;PC=P189del;DC=c.564_566delGCC;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.019:819,16:390/446:384/435,6/10:3:NA chr19 33301849 . G T 0.0 lowQ DP=846;TI=NM_004364.4;GI=CEBPA;FC=Missense;PC=P189H;DC=c.566C>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:810,17:387/442:375/435,11/6:9:0.3 chr19 33301851 . C CGAG 0.0 lowQ DP=816;TI=NM_004364.4;GI=CEBPA;FC=CODON_INSERTION;PC=P188_P189insS;DC=c.563_564insCTC;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:790,9:394/405:390/400,4/5:1:NA chr19 33302101 . TCGC T 0.0 lowQ DP=819;TI=NM_004364.4;GI=CEBPA;FC=CODON_DELETION;PC=G104del;DC=c.311_313delGCG;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:805,12:396/423:389/416,6/6:0:NA chr19 35332570 . G T 0.0 lowQ DP=352;TI=NM_001771.3;GI=CD22;FC=Missense;PC=D20Y;DC=c.58G>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:347,5:213/139:211/136,2/3:5:0.4 chr19 35345037 rs45453699 C T 0.0 rs DP=1180;TI=NM_001771.3;GI=CD22;FC=Silent;DC=c.2133-14C>T;LO=INTRON;EXON=11 GT:VF:AD:SB:SA:SP:SO 0/1:0.472:623,557:561/619:293/330,268/289:1:0.0 chr19 40265272 . G A 0.0 lowQ DP=4034;TI=NM_001626.5;GI=AKT2;FC=Silent;DC=c.-5C>T;LO=5UTR;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:3990,44:1979/2055:1961/2029,18/26:6:0.1 chr19 41879005 . C G 0.0 sb;lowQ;Benign DP=1071;TI=NM_001783.3;GI=CD79A;FC=Missense;PC=A32G;DC=c.95C>G;LO=EXON;EXON=2;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.036:1032,39:451/620:428/604,23/16:15:0.3 chr19 42290491 . C G 0.0 lowQ DP=8227;TI=NM_015125.4;GI=CIC;FC=Missense;PC=P575A;DC=c.1723C>G;LO=EXON;EXON=10;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.014:8101,117:4168/4052:4105/3996,62/55:2:0.0 chr19 42290496 . T A 0.0 lowQ DP=8055;TI=NM_015125.4;GI=CIC;FC=Synonymous;PC=P576=;DC=c.1728T>A;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:7933,118:4060/3995:3998/3935,61/57:1:0.0 chr19 42290501 . C G 0.0 lowQ DP=8114;TI=NM_015125.4;GI=CIC;FC=Missense;PC=A578G;DC=c.1733C>G;LO=EXON;EXON=10;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.014:7997,116:4135/3979:4075/3922,60/56:1:0.0 chr19 42294897 rs1052023 C T 0.0 . DP=7009;TI=NM_015125.4;GI=CIC;FC=Synonymous;PC=I1511=;DC=c.4533C>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.493:3549,3456:3504/3505:1788/1761,1714/1742:3:0.0 chr19 43543398 rs3547 T C 0.0 . DP=3470;TI=NM_006297.2;GI=XRCC1;FC=Synonymous;PC=Q632=;DC=c.1896A>G;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,3469:1901/1569:0/0,1901/1568:0:INF chr19 43561015 rs2307174 C T 0.0 . DP=568;TI=NM_006297.2;GI=XRCC1;FC=Synonymous;PC=E50=;DC=c.150G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.470:301,267:268/300:138/163,130/137:3:0.0 chr19 45351661 rs13181 T G 0.0 Benign DP=6808;TI=NM_000400.3;GI=ERCC2;FC=Missense;PC=K751Q;DC=c.2251A>C;LO=EXON;EXON=23;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,6803:3354/3454:1/1,3352/3451:0:0.0 chr19 45352266 rs1052555 G A 0.0 . DP=7753;TI=NM_000400.3;GI=ERCC2;FC=Synonymous;PC=D711=;DC=c.2133C>T;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:4,7749:3978/3775:2/2,3976/3773:0:0.0 chr19 45364001 rs1799793 C T 0.0 Benign DP=7212;TI=NM_000400.3;GI=ERCC2;FC=Missense;PC=D312N;DC=c.934G>A;LO=EXON;EXON=10;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,7207:3638/3573:1/1,3636/3571:0:0.0 chr19 45365051 rs238406 T G 0.0 . DP=7644;TI=NM_000400.3;GI=ERCC2;FC=Synonymous;PC=R156=;DC=c.468A>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,7639:3655/3989:0/1,3653/3986:0:INF chr19 45420395 rs11615 A G 0.0 rs DP=1862;TI=NM_202001.2;GI=ERCC1;FC=Synonymous;PC=N118=;DC=c.354T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1862:908/954:0/0,908/954:0:INF chr19 46918881 . A T 0.0 lowQ DP=998;TI=NM_004491.4;GI=ARHGAP35;FC=Missense;PC=N69I;DC=c.206A>T;LO=EXON;EXON=1;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.010:987,10:468/530:462/525,5/5:1:0.1 chr19 46918884 . A T 0.0 lowQ DP=963;TI=NM_004491.4;GI=ARHGAP35;FC=Missense;PC=N70I;DC=c.209A>T;LO=EXON;EXON=1;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.010:952,10:463/500:458/494,5/5:0:0.0 chr19 46920157 . G A 0.0 lowQ DP=311;TI=NM_004491.4;GI=ARHGAP35;FC=Synonymous;PC=E494=;DC=c.1482G>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:307,4:159/152:157/150,2/2:0:0.0 chr19 48117779 rs13436 C G 0.0 rs DP=1683;TI=NM_000234.2;GI=LIG1;FC=Synonymous;PC=A814=;DC=c.2442G>C;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1683:710/973:0/0,710/973:0:INF chr19 48119170 rs20581 A G 0.0 rs DP=1530;TI=NM_000234.2;GI=LIG1;FC=Synonymous;PC=D802=;DC=c.2406T>C;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:0,1526:756/774:0/0,754/772:0:INF chr19 48151296 rs20580 G T 0.0 rs DP=1228;TI=NM_000234.2;GI=LIG1;FC=Synonymous;PC=A170=;DC=c.510C>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.458:665,563:619/609:334/331,285/278:1:0.0 chr19 50876637 rs198972 C T 0.0 rs DP=1887;TI=NM_005551.4;GI=KLK2;FC=Synonymous;PC=L124=;DC=c.372C>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1887:976/911:0/0,976/911:0:INF chr19 50878521 rs198977 C T 0.0 rs DP=1740;TI=NM_005551.4;GI=KLK2;FC=Missense;PC=R250W;DC=c.748C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.449:958,782:835/905:462/496,373/409:1:0.0 chr19 52215811 . G C 0.0 . DP=6644;TI=NM_014225.5;GI=PPP2R1A;FC=Missense;PC=K280N;DC=c.840G>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.481:3449,3195:3532/3112:1829/1620,1703/1492:1:0.0 chr19 53576735 . G GA 0.0 lowQ DP=197;TI=NM_018555.5;GI=ZNF331;FC=Frameshift;PC=N61fs;DC=c.182dupA;LO=EXON;EXON=7;oriDC=c.176dupA GT:VF:AD:SB:SA:SP:SO 0/1:0.015:194,3:108/89:106/88,2/1:2:NA chr19 54148468 rs43211 C T 0.0 rs DP=1390;TI=NM_014516.3;GI=CNOT3;FC=Synonymous;PC=G405=;DC=c.1215C>T;LO=EXON;EXON=11 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1390:714/676:0/0,714/676:0:INF chr19 58545090 . C T 0.0 lowQ DP=766;TI=NM_005762.2;GI=TRIM28;FC=Synonymous;PC=D111=;DC=c.333C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:754,10:357/409:352/402,4/6:2:0.1 chr20 9307875 rs6077510 G A 0.0 Benign DP=101;TI=NM_000933.3;GI=PLCB4;FC=Missense;PC=A21T;DC=c.61G>A;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.574:43,58:45/56:19/24,26/32:0:0.0 chr20 9372350 . A G 0.0 lowQ DP=196;TI=NM_000933.3;GI=PLCB4;FC=Synonymous;PC=E211=;DC=c.633A>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:193,3:93/103:92/101,1/2:2:0.3 chr20 9390564 . C T 0.0 lowQ DP=289;TI=NM_000933.3;GI=PLCB4;FC=Synonymous;PC=C424=;DC=c.1272C>T;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:285,4:140/149:138/147,2/2:0:0.0 chr20 9401508 . C T 0.0 lowQ DP=222;TI=NM_000933.3;GI=PLCB4;FC=Missense;PC=A510V;DC=c.1529C>T;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:218,4:113/109:111/107,2/2:0:0.0 chr20 9421293 rs6056609 A G 0.0 . DP=116;TI=NM_000933.3;GI=PLCB4;FC=Silent;DC=c.2119-4A>G;LO=INTRON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.491:59,57:65/51:34/25,31/26:1:0.1 chr20 9453417 . A C 0.0 lowQ DP=418;TI=NM_000933.3;GI=PLCB4;FC=Missense;PC=K972T;DC=c.2915A>C;LO=EXON;EXON=29 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:413,5:178/240:175/238,3/2:4:0.3 chr20 9459660 . C A 0.0 lowQ DP=278;TI=NM_000933.3;GI=PLCB4;FC=Missense;PC=T1021K;DC=c.3062C>A;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:274,4:154/124:152/122,2/2:1:0.1 chr20 32434638 . AG A 0.0 lowQ DP=8452;TI=NM_015338.5;GI=ASXL1;FC=Frameshift;PC=G645fs;DC=c.1934delG;LO=EXON;EXON=13;oriDC=c.1927delG;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.023:8186,192:4389/4063:4248/3938,95/97:3:NA chr20 32436471 rs4911231 T C 0.0 . DP=4975;TI=NM_015338.5;GI=ASXL1;FC=Synonymous;PC=S1253=;DC=c.3759T>C;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,4970:2596/2379:0/1,2594/2376:0:INF chr20 37402536 . G C 0.0 . DP=9337;TI=NM_005417.4;GI=SRC;FC=Synonymous;PC=A406=;DC=c.1218G>C;LO=EXON;EXON=12 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,9324:4576/4761:0/0,4569/4755:0:INF chr20 41101343 . C CG 0.0 lowQ DP=462;TI=NM_003286.3;GI=TOP1;FC=Frameshift;PC=R434fs;DC=c.1298_1299insG;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:457,5:213/249:211/246,2/3:1:NA chr20 41123245 . G A 0.0 lowQ DP=448;TI=NM_003286.3;GI=TOP1;FC=Missense;PC=R749Q;DC=c.2246G>A;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:442,6:227/221:224/218,3/3:0:0.0 chr20 43189649 rs2867655 C G 0.0 rs DP=1179;TI=NM_133170.3;GI=PTPRT;FC=Missense;PC=A29P;DC=c.85G>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:0,1176:611/565:0/0,611/565:0:INF chr20 47624060 . A C 0.0 lowQ DP=602;TI=NM_181659.2;GI=NCOA3;FC=Missense;PC=Q78P;DC=c.233A>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.033:582,20:283/319:272/310,11/9:3:0.1 chr20 47624069 . A G 0.0 lowQ DP=613;TI=NM_181659.2;GI=NCOA3;FC=Missense;PC=Q81R;DC=c.242A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:602,11:290/323:284/318,6/5:2:0.1 chr20 47627136 . A C 0.0 lowQ DP=287;TI=NM_181659.2;GI=NCOA3;FC=Missense;PC=E164D;DC=c.492A>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:284,3:138/149:137/147,1/2:2:0.3 chr20 47639206 rs4810648 C T 0.0 rs DP=328;TI=NM_181659.2;GI=NCOA3;FC=Silent;DC=c.2707+4C>T;LO=INTRON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,328:142/186:0/0,142/186:0:INF chr20 47651086 . GCAGCAA G 0.0 lowQ;Benign DP=3896;TI=NM_181659.2;GI=NCOA3;FC=CODON_DELETION;PC=Q1255_Q1256del;DC=c.3762_3767delACAGCA;LO=EXON;EXON=20;oriDC=c.3757_3762delCAGCAA;oriPC=Q1253_Q1254del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.023:1311,91:710/692:662/649,48/43:0:INF chr20 47651089 . G A 0.0 lowQ DP=4424;TI=NM_181659.2;GI=NCOA3;FC=Synonymous;PC=Q1253=;DC=c.3759G>A;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:4304,69:2287/2086:2254/2050,33/36:3:0.1 chr20 47651092 . A G 0.0 lowQ DP=4399;TI=NM_181659.2;GI=NCOA3;FC=Synonymous;PC=Q1254=;DC=c.3762A>G;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:4246,98:2250/2094:2208/2038,42/56:11:0.2 chr20 47651092 . ACAG A 0.0 sb;Benign DP=3896;TI=NM_181659.2;GI=NCOA3;FC=CODON_DELETION;PC=Q1264del;DC=c.3789_3791delGCA;LO=EXON;EXON=20;oriDC=c.3763_3765delCAG;oriPC=Q1255del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.610:1311,2378:1857/1832:662/649,1195/1183:0:INF chr20 47651092 . ACAGCAG A 0.0 lowQ;Benign DP=3896;TI=NM_181659.2;GI=NCOA3;FC=CODON_DELETION;PC=Q1263_Q1264del;DC=c.3786_3791delGCAGCA;LO=EXON;EXON=20;oriDC=c.3763_3768delCAGCAG;oriPC=Q1255_Q1256del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.030:1311,116:722/705:662/649,60/56:0:INF chr20 47651095 . G A 0.0 lowQ DP=4434;TI=NM_181659.2;GI=NCOA3;FC=Synonymous;PC=Q1255=;DC=c.3765G>A;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:2162,66:1178/1050:1142/1020,36/30:1:0.0 chr20 47651116 . G A 0.0 sb DP=4555;TI=NM_181659.2;GI=NCOA3;FC=Synonymous;PC=Q1262=;DC=c.3786G>A;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.098:4106,445:2206/2345:2022/2084,184/261:28:0.1 chr20 47651116 . G GCAA 0.0 Benign DP=4552;TI=NM_181659.2;GI=NCOA3;FC=CODON_INSERTION;PC=Q1263dup;DC=c.3788_3789insACA;LO=EXON;EXON=20;oriDC=c.3786_3787insCAA;oriPC=Q1262dup;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.324:3055,1473:2203/2345:1477/1578,715/758:0:NA chr20 47651119 rs573532891 G A 0.0 sb;lowQ;rs DP=4525;TI=NM_181659.2;GI=NCOA3;FC=Synonymous;PC=Q1263=;DC=c.3789G>A;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:4470,52:2182/2340:2137/2333,45/7:76:0.8 chr20 47651146 . G A 0.0 lowQ DP=4078;TI=NM_181659.2;GI=NCOA3;FC=Synonymous;PC=Q1272=;DC=c.3816G>A;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:4031,47:1858/2220:1838/2193,20/27:2:0.1 chr20 47653423 . C A 0.0 sb;lowQ DP=123;TI=NM_181659.2;GI=NCOA3;FC=Silent;DC=c.*6C>A;LO=3UTR;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.024:120,3:45/78:42/78,3/0:17:INF chr20 53571860 rs139374346 G GA 0.0 R8.1;NC;rs DP=446;TI=NM_006526.2;GI=ZNF217;FC=Noncoding;DC=c.3038-8dupT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.074:407,33:229/217:207/200,19/14:3:NA chr20 53571860 . GA G 0.0 R8.1;lowQ;NC DP=446;TI=NM_006526.2;GI=ZNF217;FC=Noncoding;DC=c.3038-8delT;LO=INTRON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:407,6:229/217:207/200,3/3:0:NA chr20 53582129 . T A 0.0 lowQ DP=1460;TI=NM_006526.2;GI=ZNF217;FC=Missense;PC=E233V;DC=c.698A>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1445,15:724/736:715/730,9/6:4:0.2 chr20 53582392 . G T 0.0 sb.s;lowQ DP=555;TI=NM_006526.2;GI=ZNF217;FC=Synonymous;PC=I145=;DC=c.435C>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.038:534,21:432/123:431/103,1/20:157:1.9 chr20 53582397 . C A 0.0 sb.s;lowQ DP=569;TI=NM_006526.2;GI=ZNF217;FC=Nonsense;PC=E144*;DC=c.430G>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:552,17:445/124:445/107,0/17:147:INF chr20 56386407 rs1047972 T C 0.0 rs DP=564;TI=NM_003600.3;GI=AURKA;FC=Missense;PC=I57V;DC=c.169A>G;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:0,563:278/286:0/0,278/285:0:INF chr20 56386485 rs2273535 A T 0.0 rs DP=473;TI=NM_003600.3;GI=AURKA;FC=Missense;PC=F31I;DC=c.91T>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.461:255,218:213/260:114/141,99/119:1:0.0 chr20 56388155 . C G 0.0 lowQ DP=781;TI=NM_003600.3;GI=AURKA;FC=Splicing;DC=c.42+1G>C;LO=SPLICING;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:773,8:404/377:399/374,5/3:3:0.2 chr20 58903752 rs7121 C T 0.0 . DP=7176;TI=NM_000516.5;GI=GNAS;FC=Synonymous;PC=I131=;DC=c.393C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.473:3784,3391:3258/3918:1735/2049,1523/1868:4:0.0 chr20 63700637 rs1048665 T G 0.0 rs DP=2414;TI=NM_001267547.2;GI=ARFRP1;FC=Synonymous;PC=R161=;DC=c.483A>C;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.486:1239,1173:1185/1229:602/637,582/591:2:0.0 chr21 33027093 rs762178 A G 0.0 rs DP=882;TI=NM_005806.3;GI=OLIG2;FC=Synonymous;PC=S77=;DC=c.231A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.274:640,242:410/472:299/341,111/131:1:0.0 chr21 34792308 . A C 0.0 sb;lowQ;Benign DP=1209;TI=NM_001754.4;GI=RUNX1;FC=Missense;PC=S424A;DC=c.1270T>G;LO=EXON;EXON=9;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.028:1161,34:589/620:568/593,7/27:30:0.6 chr21 34792313 . T G 0.0 sb.s;lowQ;Benign DP=1288;TI=NM_001754.4;GI=RUNX1;FC=Missense;PC=E422A;DC=c.1265A>C;LO=EXON;EXON=9;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.033:1242,43:566/722:526/716,38/5:86:1.0 chr21 34792322 . A C 0.0 sb.s;lowQ DP=3270;TI=NM_001754.4;GI=RUNX1;FC=Missense;PC=V419G;DC=c.1256T>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.048:3107,158:823/2443:665/2442,158/0:200:INF chr21 34792325 . A C 0.0 sb.s;lowQ DP=3177;TI=NM_001754.4;GI=RUNX1;FC=Missense;PC=M418R;DC=c.1253T>G;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.039:3051,125:831/2346:706/2345,125/0:200:INF chr21 34892943 . G T 0.0 lowQ DP=480;TI=NM_001754.4;GI=RUNX1;FC=Missense;PC=P27T;DC=c.79C>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:475,5:262/218:260/215,2/3:3:0.3 chr21 38402641 . C A 0.0 sb;lowQ DP=296;TI=NM_004449.4;GI=ERG;FC=Silent;DC=c.614-4G>T;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:291,5:155/141:155/136,0/5:17:INF chr21 38402646 . C A 0.0 lowQ DP=263;TI=NM_004449.4;GI=ERG;FC=Silent;DC=c.614-9G>T;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.023:257,6:144/119:143/114,1/5:12:0.8 chr22 19196584 rs1061325 T C 0.0 rs DP=1479;TI=NM_007098.3;GI=CLTCL1;FC=Missense;PC=M1316V;DC=c.3946A>G;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.498:741,736:742/737:371/370,370/366:0:0.0 chr22 19210386 rs698423 T C 0.0 rs DP=2185;TI=NM_007098.3;GI=CLTCL1;FC=Synonymous;PC=A1063=;DC=c.3189A>G;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,2183:1096/1089:1/1,1095/1088:0:0.0 chr22 19235715 . C T 0.0 lowQ DP=377;TI=NM_007098.3;GI=CLTCL1;FC=Missense;PC=G317D;DC=c.950G>A;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:373,4:191/186:189/184,2/2:0:0.0 chr22 20087162 . G T 0.0 lowQ DP=490;TI=NM_022720.6;GI=DGCR8;FC=Missense;PC=D241Y;DC=c.721G>T;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:485,5:280/210:278/207,2/3:4:0.3 chr22 21867418 . CCCG C 0.0 lowQ;Benign DP=4442;TI=NM_002745.4;GI=MAPK1;FC=CODON_DELETION;PC=A7del;DC=c.20_22delCGG;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.027:4303,120:2270/2170:2199/2104,61/59:0:NA chr22 21957313 . T G 0.0 lowQ;FP DP=1074;TI=NM_003935.4;GI=TOP3B;FC=Missense;PC=H797P;DC=c.2390A>C;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1062,12:533/541:526/536,7/5:3:0.2 chr22 21957510 . G A 0.0 sb.s;lowQ;FP DP=96;TI=NM_003935.4;GI=TOP3B;FC=Synonymous;PC=S731=;DC=c.2193C>T;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:93,3:9/87:6/87,3/0:74:INF chr22 21975710 rs239927 T C 0.0 rs DP=620;TI=NM_003935.4;GI=TOP3B;FC=Splicing;DC=c.-1A>G;LO=5UTR;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,620:285/335:0/0,285/335:0:INF chr22 27798892 . CGCT C 0.0 lowQ DP=3694;TI=NM_002430.2;GI=MN1;FC=CODON_DELETION;PC=Q550del;DC=c.1649_1651delAGC;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:3606,80:2048/1646:2001/1605,43/37:1:NA chr22 27798924 . TTGC T 0.0 lowQ;Benign DP=4207;TI=NM_002430.2;GI=MN1;FC=CODON_DELETION;PC=Q540del;DC=c.1617_1619delGCA;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.023:4095,95:2154/2047:2101/1994,48/47:1:NA chr22 27798945 . TTGC T 0.0 lowQ;Benign DP=4159;TI=NM_002430.2;GI=MN1;FC=CODON_DELETION;PC=Q533del;DC=c.1596_1598delGCA;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.048:3912,198:1991/2154:1890/2022,85/113:9:NA chr22 27799552 . A T 0.0 lowQ DP=1097;TI=NM_002430.2;GI=MN1;FC=Missense;PC=V331E;DC=c.992T>A;LO=EXON;EXON=1;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1084,13:610/487:601/483,9/4:5:0.3 chr22 27799554 . T A 0.0 lowQ DP=1096;TI=NM_002430.2;GI=MN1;FC=Synonymous;PC=S330=;DC=c.990A>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1081,13:615/481:605/476,9/4:5:0.2 chr22 27799556 . A T 0.0 lowQ DP=1133;TI=NM_002430.2;GI=MN1;FC=Missense;PC=S330T;DC=c.988T>A;LO=EXON;EXON=1;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1116,14:633/500:623/493,9/5:3:0.2 chr22 27799614 . ATGC A 0.0 lowQ;Benign DP=1793;TI=NM_002430.2;GI=MN1;FC=CODON_DELETION;PC=Q309del;DC=c.927_929delGCA;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.034:1728,61:1033/760:996/732,35/26:0:NA chr22 27799636 . GGCT G 0.0 lowQ DP=1972;TI=NM_002430.2;GI=MN1;FC=CODON_DELETION;PC=Q302del;DC=c.905_907delAGC;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1945,21:1040/930:1027/918,10/11:2:NA chr22 28883803 . GGCC G 0.0 lowQ;Benign DP=648;TI=NM_001206998.1;GI=ZNRF3;FC=CODON_DELETION;PC=R18del;DC=c.53_55delGCC;LO=EXON;EXON=1;oriDC=c.38_40delGCC;oriPC=R14del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.020:634,13:150/498:145/489,5/8:7:NA chr22 28883858 . TGCC T 0.0 lowQ;Benign DP=584;TI=NM_001206998.1;GI=ZNRF3;FC=CODON_DELETION;PC=P36del;DC=c.107_109delCGC;LO=EXON;EXON=1;oriDC=c.93_95delGCC;oriPC=P32del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.019:573,11:284/300:279/294,5/6:1:NA chr22 28884003 rs1065497 C T 0.0 rs DP=2500;TI=NM_001206998.1;GI=ZNRF3;FC=Synonymous;PC=T79=;DC=c.237C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.468:1329,1170:1404/1096:738/591,666/504:3:0.0 chr22 28987208 rs4823001 A G 0.0 rs DP=750;TI=NM_001206998.1;GI=ZNRF3;FC=Silent;DC=c.426+7A>G;LO=INTRON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.481:389,361:360/390:188/201,172/189:1:0.0 chr22 29049830 . ACAG A 0.0 lowQ;Benign DP=1314;TI=NM_001206998.1;GI=ZNRF3;FC=CODON_DELETION;PC=S556del;DC=c.1666_1668delAGC;LO=EXON;EXON=8;oriDC=c.1650_1652delCAG;oriPC=S551del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.023:1276,30:656/658:637/639,14/16:1:NA chr22 29050623 rs5997435 A C 0.0 rs DP=2601;TI=NM_001206998.1;GI=ZNRF3;FC=Synonymous;PC=P814=;DC=c.2442A>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.501:1293,1303:1330/1271:666/627,662/641:1:0.0 chr22 29298833 . A C 0.0 lowQ DP=1772;TI=NM_005243.3;GI=EWSR1;FC=Synonymous;PC=R506=;DC=c.1518A>C;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:1754,18:890/882:881/873,9/9:0:0.0 chr22 36288285 rs5756130 C T 0.0 rs DP=1962;TI=NM_002473.5;GI=MYH9;FC=Synonymous;PC=R1633=;DC=c.4899G>A;LO=EXON;EXON=34 GT:VF:AD:SB:SA:SP:SO 0/1:0.437:1104,858:988/974:575/529,413/445:11:0.1 chr22 36293372 . GCCT G 0.0 lowQ DP=2289;TI=NM_002473.5;GI=MYH9;FC=CODON_DELETION;PC=E1350del;DC=c.4049_4051delAGG;LO=EXON;EXON=30 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:2262,23:1194/1095:1180/1082,12/11:0:NA chr22 36295561 rs710181 A C 0.0 rs DP=1529;TI=NM_002473.5;GI=MYH9;FC=Synonymous;PC=A1143=;DC=c.3429T>G;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1527:795/734:0/0,794/733:0:INF chr22 36300901 . GCTC G 0.0 lowQ DP=2309;TI=NM_002473.5;GI=MYH9;FC=CODON_DELETION;PC=E929del;DC=c.2785_2787delGAG;LO=EXON;EXON=22 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:2280,26:1158/1151:1144/1136,13/13:0:NA chr22 36312039 rs2413396 C T 0.0 rs DP=2001;TI=NM_002473.5;GI=MYH9;FC=Silent;DC=c.1728+10G>A;LO=INTRON;EXON=14 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,2001:1126/875:0/0,1126/875:0:INF chr22 36314138 rs3752462 T C 0.0 rs DP=2264;TI=NM_002473.5;GI=MYH9;FC=Silent;DC=c.1554+7A>G;LO=INTRON;EXON=13 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:5,2259:1262/1002:3/2,1259/1000:1:0.1 chr22 37973696 . A G 0.0 lowQ DP=1925;TI=NM_006941.3;GI=SOX10;FC=Synonymous;PC=F400=;DC=c.1200T>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.022:1882,43:1002/923:977/905,25/18:4:0.1 chr22 37983668 . TCCG T 0.0 lowQ DP=1101;TI=NM_006941.3;GI=SOX10;FC=CODON_DELETION;PC=G39del;DC=c.114_116delCGG;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1088,13:498/603:491/597,7/6:3:NA chr22 37983767 rs149435516 G A 0.0 rs DP=779;TI=NM_006941.3;GI=SOX10;FC=Synonymous;PC=D6=;DC=c.18C>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,779:369/410:0/0,369/410:0:INF chr22 37983794 . GGCC G 0.0 lowQ;NC DP=739;TI=NM_006941.3;GI=SOX10;FC=UTR;DC=c.-13_-11delGGC;LO=5UTR;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:728,11:345/394:340/388,5/6:0:NA chr22 41141230 rs6002267 G T 0.0 . DP=1433;TI=NM_001429.3;GI=EP300;FC=Silent;DC=c.2053+8G>T;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1433:658/775:0/0,658/775:0:INF chr22 41152004 rs20551 A G 0.0 Benign DP=1575;TI=NM_001429.3;GI=EP300;FC=Missense;PC=I997V;DC=c.2989A>G;LO=EXON;EXON=15;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.500:787,788:730/845:362/425,368/420:1:0.0 chr22 41154980 . C CT 0.0 R8.1 DP=1853;TI=NM_001429.3;GI=EP300;FC=Noncoding;DC=c.3143-4dupT;LO=INTRON;EXON=17;oriDC=c.3143-14dupT GT:VF:AD:SB:SA:SP:SO 0/1:0.080:1600,149:931/922:798/802,78/71:2:NA chr22 41154980 . CT C 0.0 R8.1 DP=1853;TI=NM_001429.3;GI=EP300;FC=Noncoding;DC=c.3143-4delT;LO=INTRON;EXON=17;oriDC=c.3143-14delT GT:VF:AD:SB:SA:SP:SO 0/1:0.050:1600,93:931/922:798/802,49/44:2:NA chr22 41155035 rs20552 T A 0.0 . DP=2151;TI=NM_001429.3;GI=EP300;FC=Synonymous;PC=T1061=;DC=c.3183T>A;LO=EXON;EXON=17 GT:VF:AD:SB:SA:SP:SO 0/1:0.480:1119,1032:1035/1116:532/587,503/529:2:0.0 chr22 41178965 rs35508493 TGTA T 0.0 sb;Benign DP=2988;TI=NM_001429.3;GI=EP300;FC=UTR;DC=c.*13_*15delGTA;LO=3UTR;EXON=31;oriDC=c.*10_*12delGTA;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.443:1663,1324:1202/1785:635/1028,567/757:20:NA chr22 42126611 rs1135840 C G 0.0 rs DP=1270;TI=NM_001025161.2;GI=CYP2D6;FC=Missense;PC=S435T;DC=c.1304G>C;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 1/1:0.998:0,1268:762/508:0/0,761/507:0:INF chr22 42127001 . G A 0.0 FP DP=4524;TI=NM_001025161.2;GI=CYP2D6;FC=Silent;DC=c.1021-9C>T;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.192:3654,870:1939/2585:1562/2092,377/493:1:0.0 chr22 42127481 . C T 0.0 Benign DP=2848;TI=NM_001025161.2;GI=CYP2D6;FC=Missense;PC=R329H;DC=c.986G>A;LO=EXON;EXON=6;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.117:2515,333:1559/1289:1375/1140,184/149:1:0.0 chr22 42127503 . C T 0.0 Benign DP=3644;TI=NM_001025161.2;GI=CYP2D6;FC=Missense;PC=G322S;DC=c.964G>A;LO=EXON;EXON=6;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.116:3219,423:1921/1723:1703/1516,217/206:3:0.0 chr22 42127512 . C T 0.0 Benign DP=3890;TI=NM_001025161.2;GI=CYP2D6;FC=Missense;PC=V319I;DC=c.955G>A;LO=EXON;EXON=6;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.118:3431,459:2022/1868:1791/1640,231/228:3:0.0 chr22 42127526 . C T 0.0 sb;Benign DP=4107;TI=NM_001025161.2;GI=CYP2D6;FC=Missense;PC=R314H;DC=c.941G>A;LO=EXON;EXON=6;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.374:2569,1536:2105/2002:1371/1198,733/803:33:0.1 chr22 42127537 . A G 0.0 . DP=4287;TI=NM_001025161.2;GI=CYP2D6;FC=Synonymous;PC=H310=;DC=c.930T>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.107:3828,459:2164/2123:1939/1889,225/234:3:0.0 chr22 42127634 . C A 0.0 sb.s;Benign DP=2542;sb;TI=NM_001025161.2;GI=CYP2D6;FC=Missense;PC=R278L;DC=c.833G>T;LO=EXON;EXON=6;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.131:2202,334:1117/1425:1052/1150,63/271:200:0.6 chr22 42127941 rs16947 G A 0.0 rs DP=1956;TI=NM_001025161.2;GI=CYP2D6;FC=Missense;PC=R245C;DC=c.733C>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.482:1011,943:987/969:511/500,475/468:0:0.0 chr22 42128793 . A G 0.0 sb.s DP=1890;TI=NM_001025161.2;GI=CYP2D6;FC=Synonymous;PC=F168=;DC=c.504T>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.059:1778,112:1058/832:954/824,104/8:153:1.1 chr22 42128811 . CAG CGA 0.0 sb;Benign DP=2118;MergedVar=42128812/A/G,42128813/G/A;TI=NM_001025161.2;GI=CYP2D6;FC=Missense;PC=L162S;DC=c.484_485delinsTC;LO=EXON;EXON=3;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.150:1798,317:1180/936:952/846,228/89:0:0.4 chr22 42128818 . T TC 0.0 sb;Benign DP=2254;TI=NM_001025161.2;GI=CYP2D6;FC=Frameshift;PC=E160fs;DC=c.478dupG;LO=EXON;EXON=3;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.168:1876,378:1240/1014:972/904,268/110:110:NA chr22 42128945 rs3892097 C T 0.0 rs DP=2943;TI=NM_001025161.2;GI=CYP2D6;FC=Splicing;DC=c.353-1G>A;LO=SPLICING;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.228:2267,672:1384/1559:1085/1182,297/375:10:0.1 chr22 42129796 rs28371705 G C 0.0 rs DP=2713;TI=NM_001025161.2;GI=CYP2D6;FC=Synonymous;PC=T98=;DC=c.294C>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.374:1693,1015:1367/1344:878/815,487/528:13:0.1 chr22 42129809 rs28371704 T C 0.0 rs DP=2568;TI=NM_001025161.2;GI=CYP2D6;FC=Missense;PC=H94R;DC=c.281A>G;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.342:1689,879:1249/1319:844/845,405/474:12:0.1 chr22 42129819 rs28371703 G T 0.0 sb;FP;rs DP=2432;TI=NM_001025161.2;GI=CYP2D6;FC=Missense;PC=L91M;DC=c.271C>A;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.299:1706,726:1137/1295:846/860,291/435:48:0.2 chr22 42130692 rs1065852 G A 0.0 rs DP=6420;TI=NM_001025161.2;GI=CYP2D6;FC=Missense;PC=P34S;DC=c.100C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.760:1544,4876:3288/3132:806/738,2482/2394:4:0.0 chrX 1190963 . G A 0.0 . DP=1572;TI=NM_022148.3;GI=CRLF2;FC=Synonymous;PC=G350=;DC=c.1050C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.488:805,767:862/710:436/369,426/341:2:0.0 chrX 1191074 . T C 0.0 . DP=1721;TI=NM_022148.3;GI=CRLF2;FC=Synonymous;PC=V313=;DC=c.939A>G;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.499:861,859:812/909:412/449,400/459:2:0.0 chrX 1191089 . G A 0.0 . DP=1703;TI=NM_022148.3;GI=CRLF2;FC=Synonymous;PC=P308=;DC=c.924C>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.490:867,834:781/922:396/471,384/450:1:0.0 chrX 1193297 . T C 0.0 Benign DP=1084;TI=NM_022148.3;GI=CRLF2;FC=Missense;PC=K258R;DC=c.773A>G;LO=EXON;EXON=7;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,1084:526/558:0/0,526/558:0:INF chrX 1198697 . T C 0.0 lowQ DP=1508;TI=NM_022148.3;GI=CRLF2;FC=Missense;PC=T171A;DC=c.511A>G;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:1492,16:664/844:659/833,5/11:5:0.2 chrX 1198738 . C CACAT 0.0 R8.2;NC DP=719;TI=NM_022148.3;GI=CRLF2;FC=Noncoding;DC=c.484-15_484-14insATGT;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.128:606,92:311/388:272/334,39/53:2:NA chrX 14850684 rs2905223 A G 0.0 . DP=282;TI=NM_001018113.2;GI=FANCB;FC=Silent;DC=c.1327-10T>C;LO=INTRON;EXON=7 GT:VF:AD:SB:SA:SP:SO 1/1:0.996:0,281:131/151:0/0,131/150:0:INF chrX 15803796 . G C 0.0 lowQ DP=454;TI=NM_005089.3;GI=ZRSR2;FC=Missense;PC=E104D;DC=c.312G>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:446,6:214/240:210/236,3/3:1:0.1 chrX 15815741 . A T 0.0 lowQ DP=619;TI=NM_005089.3;GI=ZRSR2;FC=Missense;PC=T208S;DC=c.622A>T;LO=EXON;EXON=8 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:612,7:336/283:331/281,5/2:4:0.3 chrX 15820243 rs2301724 C T 0.0 rs DP=279;TI=NM_005089.3;GI=ZRSR2;FC=Synonymous;PC=N288=;DC=c.864C>T;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,279:146/133:0/0,146/133:0:INF chrX 20130591 . A G 0.0 lowQ DP=365;TI=NM_001412.3;GI=EIF1AX;FC=Synonymous;PC=T118=;DC=c.354T>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:361,4:173/192:171/190,2/2:0:0.0 chrX 20138585 . C A 0.0 lowQ DP=358;TI=NM_001412.3;GI=EIF1AX;FC=Missense;PC=E18D;DC=c.54G>T;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:354,4:167/191:165/189,2/2:0:0.1 chrX 40071163 . G T 0.0 lowQ DP=585;TI=NM_017745.5;GI=BCOR;FC=Silent;DC=c.3052-4C>A;LO=INTRON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:577,6:316/269:314/263,1/5:12:0.8 chrX 40073654 rs6520618 T C 0.0 . DP=4896;TI=NM_017745.5;GI=BCOR;FC=Synonymous;PC=A564=;DC=c.1692A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:0.997:4,4880:2469/2425:2/2,2462/2418:0:0.0 chrX 40074086 rs5917933 A G 0.0 . DP=5202;TI=NM_017745.5;GI=BCOR;FC=Synonymous;PC=D420=;DC=c.1260T>C;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:2,5198:2653/2549:1/1,2651/2547:0:0.0 chrX 40597544 . GA G 0.0 lowQ DP=109;TI=NM_005765.2;GI=ATP6AP2;FC=Frameshift;PC=K139fs;DC=c.416delA;LO=EXON;EXON=5;oriDC=c.415delA;CI=Pathogenic GT:VF:AD:SB:SA:SP:SO 0/1:0.037:105,4:59/50:57/48,2/2:1:NA chrX 40599676 . C A 0.0 lowQ DP=114;TI=NM_005765.2;GI=ATP6AP2;FC=Missense;PC=R225S;DC=c.673C>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.026:111,3:55/59:53/58,2/1:3:0.3 chrX 41342782 . C T 0.0 lowQ DP=246;TI=NM_001356.4;GI=DDX3X;FC=Synonymous;PC=Y163=;DC=c.489C>T;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:242,4:109/137:107/135,2/2:1:0.1 chrX 41342791 . T C 0.0 lowQ DP=253;TI=NM_001356.4;GI=DDX3X;FC=Synonymous;PC=I166=;DC=c.498T>C;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:249,4:115/138:113/136,2/2:1:0.1 chrX 45076679 rs747294180 CTTT C 0.0 R8.1;lowQ DP=262;TI=NM_021140.3;GI=KDM6A;FC=Noncoding;DC=c.2703-7_2703-5delTTT;LO=INTRON;EXON=18;oriDC=c.2703-17_2703-15delTTT GT:VF:AD:SB:SA:SP:SO 0/1:0.019:44,5:146/114:27/17,3/2:0:NA chrX 47171067 . AGGC A 0.0 lowQ DP=1518;TI=NM_005676.4;GI=RBM10;FC=CODON_DELETION;PC=R85del;DC=c.254_256delGGC;LO=EXON;EXON=4;oriDC=c.242_244delGGC;oriPC=R82del;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1499,19:837/681:826/673,11/8:1:NA chrX 47171161 . GGGA G 0.0 lowQ;Benign DP=1919;TI=NM_005676.4;GI=RBM10;FC=CODON_DELETION;PC=E119del;DC=c.357_359delGGA;LO=EXON;EXON=4;oriDC=c.336_338delGGA;oriPC=E113del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.043:1823,83:949/970:905/918,39/44:2:NA chrX 47181235 rs143203694 T C 0.0 rs DP=941;TI=NM_005676.4;GI=RBM10;FC=Synonymous;PC=G423=;DC=c.1269T>C;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,941:444/497:0/0,444/497:0:INF chrX 47567219 rs142914348 C G 0.0 . DP=3907;TI=NM_001654.4;GI=ARAF;FC=Silent;DC=c.874-11C>G;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:1,3904:1973/1934:0/1,1972/1932:0:INF chrX 48684427 . AC A 0.0 lowQ;NC DP=484;TI=NM_000377.2;GI=WAS;FC=Noncoding;DC=c.273+11delC;LO=INTRON;EXON=2;oriDC=c.273+5delC GT:VF:AD:SB:SA:SP:SO 0/1:0.010:479,5:133/351:132/347,1/4:2:NA chrX 48688787 . A C 0.0 sb.s;lowQ DP=653;TI=NM_000377.2;GI=WAS;FC=Synonymous;PC=P353=;DC=c.1059A>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:632,21:205/448:184/448,21/0:112:INF chrX 48688798 . G C 0.0 sb.s;lowQ DP=591;TI=NM_000377.2;GI=WAS;FC=Missense;PC=R357P;DC=c.1070G>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:572,19:132/459:113/459,19/0:160:INF chrX 48688808 . A C 0.0 sb.s DP=680;TI=NM_000377.2;GI=WAS;FC=Synonymous;PC=P360=;DC=c.1080A>C;LO=EXON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.106:608,72:209/471:137/471,72/0:200:INF chrX 48794092 . C G 0.0 . DP=1156;TI=NM_002049.3;GI=GATA1;FC=Synonymous;PC=P390=;DC=c.1170C>G;LO=EXON;EXON=6 GT:VF:AD:SB:SA:SP:SO 1/1:0.999:0,1155:585/571:0/0,584/571:0:INF chrX 53218306 . C T 0.0 lowQ DP=1619;TI=NM_004187.3;GI=KDM5C;FC=Synonymous;PC=R107=;DC=c.321G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1599,20:861/758:850/749,11/9:1:0.0 chrX 64191300 . C G 0.0 lowQ DP=3695;TI=NM_152424.3;GI=AMER1;FC=Missense;PC=V663L;DC=c.1987G>C;LO=EXON;EXON=2;CI=Likely_Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.015:3635,57:1881/1814:1849/1786,31/26:2:0.1 chrX 64192841 . C G 0.0 lowQ DP=3224;TI=NM_152424.3;GI=AMER1;FC=Missense;PC=G149A;DC=c.446G>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:3178,42:1601/1623:1579/1599,20/22:1:0.0 chrX 64192842 . C G 0.0 lowQ DP=3250;TI=NM_152424.3;GI=AMER1;FC=Missense;PC=G149R;DC=c.445G>C;LO=EXON;EXON=2 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:3207,43:1610/1640:1590/1617,20/23:2:0.1 chrX 67545316 . T TGCA 0.0 lowQ;Benign DP=1050;TI=NM_000044.4;GI=AR;FC=CODON_INSERTION;PC=Q80dup;DC=c.237_239dupGCA;LO=EXON;EXON=1;oriDC=c.171_173dupGCA;oriPC=L57_Q58insQ;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.032:909,34:562/488:495/414,15/19:6:NA chrX 67545316 . TGCA T 0.0 Benign DP=1050;TI=NM_000044.4;GI=AR;FC=CODON_DELETION;PC=Q80del;DC=c.237_239delGCA;LO=EXON;EXON=1;oriDC=c.171_173delGCA;oriPC=Q58del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.081:909,85:562/488:495/414,41/44:6:NA chrX 67545316 . TGCAGCA T 0.0 lowQ;Benign DP=786;TI=NM_000044.4;GI=AR;FC=CODON_DELETION;PC=Q79_Q80del;DC=c.234_239delGCAGCA;LO=EXON;EXON=1;oriDC=c.171_176delGCAGCA;oriPC=Q58_Q59del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.025:766,20:378/407:367/398,11/9:0:INF chrX 67545319 . A T 0.0 sb;lowQ;Benign DP=1044;TI=NM_000044.4;GI=AR;FC=Missense;PC=Q58L;DC=c.173A>T;LO=EXON;EXON=1;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.018:923,19:513/430:507/416,6/13:14:0.4 chrX 67545400 . GGCA G 0.0 lowQ;Benign DP=1187;TI=NM_000044.4;GI=AR;FC=CODON_DELETION;PC=Q91del;DC=c.271_273delCAG;LO=EXON;EXON=1;oriDC=c.255_257delGCA;oriPC=Q86del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.023:1155,27:558/629:548/607,8/19:12:NA chrX 67546511 . TGGTGGCGGCGGCGGCGGCGGCGGCGGCGGC T . lowQ;Benign DP=2535;PINDEL_SUP=17;TI=NM_000044.4;GI=AR;FC=CODON_DELETION;PC=G457_G466del;DC=c.1368_1397del30;LO=EXON;EXON=1;oriDC=c.1366_1395del30;oriPC=G456_G465del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.003:3,7:2/8:1/2,1/6:0:INF chrX 67546514 . TGGCGGCGGCGGCGGCGGCGGCGGCGGC T 0.0 sb;Benign DP=2535;TI=NM_000044.4;GI=AR;FC=CODON_DELETION;PC=G465_G473del;DC=c.1394_1420del27;LO=EXON;EXON=1;oriDC=c.1369_1395del27;oriPC=G457_G465del;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.966:3,2448:1728/723:1/2,1727/721:0:INF chrX 67546514 . TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC T 0.0 sb;lowQ;Benign DP=2535;TI=NM_000044.4;GI=AR;FC=CODON_DELETION;PC=G464_G473del;DC=c.1391_1420del30;LO=EXON;EXON=1;oriDC=c.1369_1398del30;oriPC=G457_G466del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.030:3,77:61/19:1/2,60/17:0:INF chrX 67546541 . C T 0.0 RV DP=1153;TI=NM_000044.4;GI=AR;FC=Synonymous;PC=G465=;DC=c.1395C>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.066:29,76:72/39:21/8,51/25:2:0.1 chrX 71140738 . GAGC G 0.0 lowQ DP=3025;TI=NM_005120.2;GI=MED12;FC=CODON_DELETION;PC=Q2056del;DC=c.6165_6167delGCA;LO=EXON;EXON=42;oriDC=c.6149_6151delAGC;oriPC=Q2051del GT:VF:AD:SB:SA:SP:SO 0/1:0.015:2977,45:1711/1314:1682/1295,27/18:2:NA chrX 71140773 . ACAG A 0.0 lowQ DP=3147;TI=NM_005120.2;GI=MED12;FC=CODON_DELETION;PC=Q2067del;DC=c.6198_6200delGCA;LO=EXON;EXON=42;oriDC=c.6184_6186delCAG;oriPC=Q2062del;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.015:3092,48:1644/1503:1617/1475,24/24:1:NA chrX 71140797 . ACAG A 0.0 lowQ DP=3161;TI=NM_005120.2;GI=MED12;FC=CODON_DELETION;PC=Q2076del;DC=c.6226_6228delCAG;LO=EXON;EXON=42;oriDC=c.6208_6210delCAG;oriPC=Q2070del GT:VF:AD:SB:SA:SP:SO 0/1:0.028:3063,90:1562/1599:1511/1552,46/44:1:NA chrX 71140829 . GGCA G 0.0 lowQ;Benign DP=3001;TI=NM_005120.2;GI=MED12;FC=CODON_DELETION;PC=Q2086del;DC=c.6256_6258delCAG;LO=EXON;EXON=42;oriDC=c.6240_6242delGCA;oriPC=Q2081del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.024:2916,72:1409/1590:1369/1547,34/38:0:NA chrX 71141247 . ACAG A 0.0 lowQ;Benign DP=3003;TI=NM_005120.2;GI=MED12;FC=CODON_DELETION;PC=Q2103del;DC=c.6306_6308delGCA;LO=EXON;EXON=43;oriDC=c.6286_6288delCAG;oriPC=Q2096del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.025:2911,74:1599/1401:1547/1364,44/30:5:NA chrX 71375172 . G A 0.0 lowQ DP=309;TI=NM_004606.4;GI=TAF1;FC=Missense;PC=D140N;DC=c.418G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:305,4:157/152:155/150,2/2:0:0.0 chrX 71375194 . A G 0.0 lowQ DP=378;TI=NM_004606.4;GI=TAF1;FC=Missense;PC=D147G;DC=c.440A>G;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:374,4:199/179:197/177,2/2:0:0.0 chrX 71377187 . G A 0.0 lowQ DP=189;TI=NM_004606.4;GI=TAF1;FC=Missense;PC=G257E;DC=c.770G>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.021:185,4:83/106:81/104,2/2:1:0.1 chrX 71378271 . C T 0.0 lowQ DP=283;TI=NM_004606.4;GI=TAF1;FC=Nonsense;PC=Q344*;DC=c.1030C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:279,4:151/132:149/130,2/2:0:0.1 chrX 71381863 . G A 0.0 lowQ DP=297;TI=NM_004606.4;GI=TAF1;FC=Missense;PC=R514Q;DC=c.1541G>A;LO=EXON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:294,3:144/153:143/151,1/2:2:0.3 chrX 71384009 . TA T 0.0 lowQ DP=229;TI=NM_004606.4;GI=TAF1;FC=Frameshift;PC=M686fs;DC=c.2056delA;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:225,4:115/114:113/112,2/2:0:NA chrX 71387435 . A G 0.0 lowQ DP=743;TI=NM_004606.4;GI=TAF1;FC=Missense;PC=N821D;DC=c.2461A>G;LO=EXON;EXON=15 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:735,8:355/388:351/384,4/4:0:0.0 chrX 71388340 . G A 0.0 lowQ DP=300;TI=NM_004606.4;GI=TAF1;FC=Missense;PC=R864Q;DC=c.2591G>A;LO=EXON;EXON=16 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:297,3:139/161:137/160,2/1:3:0.4 chrX 71392874 . G T 0.0 lowQ DP=212;TI=NM_004606.4;GI=TAF1;FC=Splicing;DC=c.2992-1G>T;LO=SPLICING;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:209,3:111/101:109/100,2/1:2:0.3 chrX 71392912 . C T 0.0 lowQ DP=296;TI=NM_004606.4;GI=TAF1;FC=Missense;PC=T1010I;DC=c.3029C>T;LO=EXON;EXON=20 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:293,3:153/143:151/142,2/1:2:0.3 chrX 71393309 . G T 0.0 lowQ DP=193;TI=NM_004606.4;GI=TAF1;FC=Missense;PC=K1040N;DC=c.3120G>T;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:190,3:95/98:94/96,1/2:2:0.3 chrX 71393392 . T A 0.0 lowQ DP=277;TI=NM_004606.4;GI=TAF1;FC=Missense;PC=F1068Y;DC=c.3203T>A;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:274,3:149/128:147/127,2/1:2:0.2 chrX 71406652 . G A 0.0 . DP=190;TI=NM_004606.4;GI=TAF1;FC=Missense;PC=R1358H;DC=c.4073G>A;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 0/1:0.737:50,140:100/90:26/24,74/66:0:0.0 chrX 71406697 . C T 0.0 lowQ DP=224;TI=NM_004606.4;GI=TAF1;FC=Missense;PC=P1373L;DC=c.4118C>T;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:220,4:125/99:123/97,2/2:1:0.1 chrX 71421297 . G A 0.0 lowQ DP=266;TI=NM_004606.4;GI=TAF1;FC=Silent;DC=c.4445-12G>A;LO=INTRON;EXON=29 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:262,4:146/120:144/118,2/2:1:0.1 chrX 71421377 . G T 0.0 sb;lowQ DP=194;TI=NM_004606.4;GI=TAF1;FC=Splicing;DC=c.4512+1G>T;LO=SPLICING;EXON=29 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:191,3:126/68:126/65,0/3:18:INF chrX 71424057 . C G 0.0 lowQ DP=341;TI=NM_004606.4;GI=TAF1;FC=Synonymous;PC=T1573=;DC=c.4719C>G;LO=EXON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:337,4:173/168:171/166,2/2:0:0.0 chrX 71454243 . T A 0.0 lowQ DP=212;TI=NM_004606.4;GI=TAF1;FC=Silent;DC=c.4881+6T>A;LO=INTRON;EXON=33 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:209,3:100/112:98/111,2/1:3:0.4 chrX 71460804 . G A 0.0 lowQ DP=226;TI=NM_004606.4;GI=TAF1;FC=Splicing;DC=c.5459+1G>A;LO=SPLICING;EXON=37 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:220,4:105/121:102/118,2/2:1:0.1 chrX 77589942 . TA T 0.0 lowQ DP=594;TI=NM_000489.4;GI=ATRX;FC=Noncoding;DC=c.6111-3delT;LO=INTRON;EXON=27;CI=VUS GT:VF:AD:SB:SA:SP:SO 0/1:0.010:588,6:293/301:290/298,3/3:0:NA chrX 77599543 . T G 0.0 lowQ DP=993;TI=NM_000489.4;GI=ATRX;FC=Missense;PC=S1942R;DC=c.5824A>C;LO=EXON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:983,10:475/518:470/513,5/5:1:0.0 chrX 77599820 . C A 0.0 lowQ DP=305;TI=NM_000489.4;GI=ATRX;FC=Missense;PC=G1900C;DC=c.5698G>T;LO=EXON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:301,4:138/167:136/165,2/2:1:0.1 chrX 77599826 . G GA 0.0 R8.1;lowQ DP=273;TI=NM_000489.4;GI=ATRX;FC=Noncoding;DC=c.5698-7dupT;LO=INTRON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.029:261,8:135/138:129/132,4/4:0:NA chrX 77599826 . GA G 0.0 R8.1;lowQ DP=273;TI=NM_000489.4;GI=ATRX;FC=Noncoding;DC=c.5698-7delT;LO=INTRON;EXON=24 GT:VF:AD:SB:SA:SP:SO 0/1:0.015:261,4:135/138:129/132,2/2:0:NA chrX 77652291 . TTCC T 0.0 lowQ;Benign DP=1614;TI=NM_000489.4;GI=ATRX;FC=CODON_DELETION;PC=E1460del;DC=c.4377_4379delGGA;LO=EXON;EXON=15;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.013:1591,21:769/845:759/832,9/12:2:NA chrX 77682471 . C G 0.0 Benign DP=798;TI=NM_000489.4;GI=ATRX;FC=Missense;PC=E929Q;DC=c.2785G>C;LO=EXON;EXON=9;CI=Benign GT:VF:AD:SB:SA:SP:SO 1/1:0.997:0,796:414/384:0/0,413/383:0:INF chrX 96884754 . A C 0.0 lowQ DP=354;TI=NM_013347.4;GI=RPA4;FC=Synonymous;PC=L148=;DC=c.444A>C;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:349,5:175/179:173/176,2/3:2:0.2 chrX 96884755 . G T 0.0 lowQ DP=353;TI=NM_013347.4;GI=RPA4;FC=Nonsense;PC=E149*;DC=c.445G>T;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:349,4:175/178:173/176,2/2:0:0.0 chrX 101356878 . C G 0.0 lowQ DP=1070;TI=NM_000061.2;GI=BTK;FC=Missense;PC=G419R;DC=c.1255G>C;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:1055,15:531/539:524/531,7/8:1:0.1 chrX 101370089 . T C 0.0 lowQ DP=634;TI=NM_000061.2;GI=BTK;FC=Silent;DC=c.310-10A>G;LO=INTRON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.014:625,9:303/331:300/325,3/6:4:0.3 chrX 101371695 . C T 0.0 lowQ DP=389;TI=NM_000061.2;GI=BTK;FC=Missense;PC=G83S;DC=c.247G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:385,4:186/203:184/201,2/2:0:0.0 chrX 111123249 . G A 0.0 lowQ DP=231;TI=NM_001128166.2;GI=PAK3;FC=Missense;PC=R49H;DC=c.146G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:227,4:110/121:108/119,2/2:0:0.0 chrX 111123269 . G A 0.0 lowQ DP=205;TI=NM_001128166.2;GI=PAK3;FC=Missense;PC=G56R;DC=c.166G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:201,4:99/106:97/104,2/2:0:0.0 chrX 111147859 . C A 0.0 lowQ DP=286;TI=NM_001128166.2;GI=PAK3;FC=Missense;PC=N133K;DC=c.399C>A;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:283,3:137/149:135/148,2/1:3:0.3 chrX 111195890 . G T 0.0 lowQ DP=175;TI=NM_001128166.2;GI=PAK3;FC=Missense;PC=D387Y;DC=c.1159G>T;LO=EXON;EXON=13 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:172,3:88/87:86/86,2/1:2:0.3 chrX 111196589 . A G 0.0 lowQ DP=307;TI=NM_001128166.2;GI=PAK3;FC=Synonymous;PC=A452=;DC=c.1356A>G;LO=EXON;EXON=14 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:303,4:141/166:139/164,2/2:1:0.1 chrX 124047347 . A G 0.0 lowQ DP=163;TI=NM_001282418.1;GI=STAG2;FC=Silent;DC=c.668-7A>G;LO=INTRON;EXON=9 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:159,4:85/78:83/76,2/2:0:0.0 chrX 124049088 . G T 0.0 lowQ DP=308;TI=NM_001282418.1;GI=STAG2;FC=Silent;DC=c.893+10G>T;LO=INTRON;EXON=10 GT:VF:AD:SB:SA:SP:SO 0/1:0.013:302,4:151/157:148/154,2/2:0:0.0 chrX 124061773 . C A 0.0 sb.s;lowQ;Benign DP=75;TI=NM_001282418.1;GI=STAG2;FC=Missense;PC=L513I;DC=c.1537C>A;LO=EXON;EXON=17;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.053:71,4:13/62:9/62,4/0:51:INF chrX 124061816 . G T 0.0 sb;lowQ;Benign DP=130;TI=NM_001282418.1;GI=STAG2;FC=Missense;PC=C527F;DC=c.1580G>T;LO=EXON;EXON=17;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.023:127,3:49/81:46/81,3/0:16:INF chrX 124061827 . C A 0.0 sb;lowQ;Benign DP=145;TI=NM_001282418.1;GI=STAG2;FC=Missense;PC=Q531K;DC=c.1591C>A;LO=EXON;EXON=17;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.021:142,3:57/88:54/88,3/0:15:INF chrX 124071143 . A T 0.0 lowQ DP=95;TI=NM_001282418.1;GI=STAG2;FC=Silent;DC=c.2359-6A>T;LO=INTRON;EXON=25 GT:VF:AD:SB:SA:SP:SO 0/1:0.032:92,3:48/47:47/45,1/2:3:0.3 chrX 124076442 . G A 0.0 lowQ DP=233;TI=NM_001282418.1;GI=STAG2;FC=Missense;PC=A882T;DC=c.2644G>A;LO=EXON;EXON=26 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:229,4:114/119:112/117,2/2:0:0.0 chrX 124083534 . A G 0.0 lowQ DP=130;TI=NM_001282418.1;GI=STAG2;FC=Missense;PC=Q1013R;DC=c.3038A>G;LO=EXON;EXON=29 GT:VF:AD:SB:SA:SP:SO 0/1:0.031:126,4:62/68:60/66,2/2:0:0.0 chrX 124090571 . C A 0.0 sb.s;lowQ DP=132;TI=NM_001282418.1;GI=STAG2;FC=Silent;DC=c.3278-4C>A;LO=INTRON;EXON=31 GT:VF:AD:SB:SA:SP:SO 0/1:0.030:128,4:43/89:39/89,4/0:25:INF chrX 124094023 . G A 0.0 lowQ DP=200;TI=NM_001282418.1;GI=STAG2;FC=Missense;PC=R1158H;DC=c.3473G>A;LO=EXON;EXON=32 GT:VF:AD:SB:SA:SP:SO 0/1:0.020:196,4:104/96:102/94,2/2:0:0.0 chrX 124095359 . T C 0.0 lowQ DP=482;TI=NM_001282418.1;GI=STAG2;FC=Silent;DC=c.3595-13T>C;LO=INTRON;EXON=33 GT:VF:AD:SB:SA:SP:SO 0/1:0.010:477,5:252/230:249/228,3/2:1:0.1 chrX 129465659 . T C 0.0 lowQ DP=224;TI=NM_003069.4;GI=SMARCA1;FC=Missense;PC=E964G;DC=c.2891A>G;LO=EXON;EXON=23 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:220,4:114/110:112/108,2/2:0:0.0 chrX 129468825 . G A 0.0 lowQ DP=249;TI=NM_003069.4;GI=SMARCA1;FC=Synonymous;PC=N882=;DC=c.2646C>T;LO=EXON;EXON=21 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:246,3:122/127:120/126,2/1:3:0.3 chrX 129481092 . C T 0.0 lowQ DP=258;TI=NM_003069.4;GI=SMARCA1;FC=Missense;PC=E771K;DC=c.2311G>A;LO=EXON;EXON=18 GT:VF:AD:SB:SA:SP:SO 0/1:0.016:254,4:134/124:132/122,2/2:0:0.0 chrX 129516335 . C T 0.0 lowQ DP=250;TI=NM_003069.4;GI=SMARCA1;FC=Missense;PC=G142R;DC=c.424G>A;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:247,3:132/118:131/116,1/2:3:0.4 chrX 130013912 . G C 0.0 sb;lowQ DP=754;TI=NM_021946.4;GI=BCORL1;FC=Synonymous;PC=P380=;DC=c.1140G>C;LO=EXON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:743,9:257/497:250/493,7/2:23:0.8 chrX 133754180 . T TA 0.0 R8.1;NC DP=92;TI=NM_004484.3;GI=GPC3;FC=Noncoding;DC=c.338-5dupT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.076:51,7:47/45:26/25,3/4:2:NA chrX 133754180 . TA T 0.0 R8.1;NC DP=92;TI=NM_004484.3;GI=GPC3;FC=Noncoding;DC=c.338-5delT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.261:51,24:47/45:26/25,13/11:1:NA chrX 133754180 . TAA T 0.0 R8.1;NC DP=92;TI=NM_004484.3;GI=GPC3;FC=Noncoding;DC=c.338-6_338-5delTT;LO=INTRON;EXON=3 GT:VF:AD:SB:SA:SP:SO 0/1:0.087:51,8:47/45:26/25,4/4:0:NA chrX 133985356 . CCGG C 0.0 lowQ DP=1155;TI=NM_004484.3;GI=GPC3;FC=CODON_DELETION;PC=P31del;DC=c.91_93delCCG;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.012:1141,14:597/558:591/550,6/8:3:NA chrX 134393562 . G A 0.0 lowQ DP=233;TI=NM_032458.2;GI=PHF6;FC=Missense;PC=R101K;DC=c.302G>A;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.017:229,4:115/118:113/116,2/2:0:0.0 chrX 134393576 . C T 0.0 lowQ DP=220;TI=NM_032458.2;GI=PHF6;FC=Missense;PC=H106Y;DC=c.316C>T;LO=EXON;EXON=4 GT:VF:AD:SB:SA:SP:SO 0/1:0.018:216,4:104/116:102/114,2/2:0:0.0 chrX 154400814 . G A 0.0 FP DP=1052;TI=NM_006013.4;GI=RPL10;FC=Missense;PC=S202N;DC=c.605G>A;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.430:600,452:519/533:299/301,220/232:1:0.0 chrX 154400837 . C T 0.0 FP DP=1056;TI=NM_006013.4;GI=RPL10;FC=Missense;PC=R210W;DC=c.628C>T;LO=EXON;EXON=7 GT:VF:AD:SB:SA:SP:SO 0/1:0.543:483,573:510/546:224/259,286/287:6:0.1 chrX 154428685 . C T 0.0 lowQ DP=354;TI=NM_001183.5;GI=ATP6AP1;FC=Silent;DC=c.-8C>T;LO=5UTR;EXON=1 GT:VF:AD:SB:SA:SP:SO 0/1:0.011:350,4:208/146:205/145,3/1:3:0.3 chrX 154428737 rs28497482 G A 0.0 . DP=424;TI=NM_001183.5;GI=ATP6AP1;FC=Synonymous;PC=R15=;DC=c.45G>A;LO=EXON;EXON=1 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,424:235/189:0/0,235/189:0:INF chrX 154766284 . G C 0.0 lowQ DP=321;TI=NM_001363.4;GI=DKC1;FC=Missense;PC=R111P;DC=c.332G>C;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 0/1:0.025:313,8:164/157:159/154,5/3:3:0.2 chrX 154766321 rs2728532 G T 0.0 rs DP=346;TI=NM_001363.4;GI=DKC1;FC=Synonymous;PC=T123=;DC=c.369G>T;LO=EXON;EXON=5 GT:VF:AD:SB:SA:SP:SO 1/1:1.000:0,346:169/177:0/0,169/177:0:INF chrX 154776813 . CAAG C 0.0 Benign DP=457;TI=NM_001363.4;GI=DKC1;FC=CODON_DELETION;PC=K505del;DC=c.1512_1514delGAA;LO=EXON;EXON=15;oriDC=c.1492_1494delAAG;oriPC=K498del;CI=Benign GT:VF:AD:SB:SA:SP:SO 0/1:0.053:423,24:232/225:214/209,12/12:0:NA chrX 154776813 . CAAGAAG C 0.0 lowQ DP=465;TI=NM_001363.4;GI=DKC1;FC=CODON_DELETION;PC=K504_K505del;DC=c.1509_1514delGAAGAA;LO=EXON;EXON=15;oriDC=c.1492_1497delAAGAAG;oriPC=K498_K499del GT:VF:AD:SB:SA:SP:SO 0/1:0.011:460,5:231/234:228/232,3/2:0:INF