-
Notifications
You must be signed in to change notification settings - Fork 3
/
compound_het_test_file_1.txt
12 lines (12 loc) · 8.56 KB
/
compound_het_test_file_1.txt
1
2
3
4
5
6
7
8
9
10
11
12
1 1007432 1007432 G A exonic RNF223 nonsynonymous SNV RNF223:NM_001205252:exon2:c.C515T:p.A172V NA NA rs4333796 NA NA NA 1 1007432 . G A 16878.23 . AC=16;AF=0.571;AN=28;BaseQRankSum=-2.129;DP=1140;Dels=0.00;FS=0.000;HaplotypeScore=1.2788;InbreedingCoeff=-0.4583;MLEAC=16;MLEAF=0.571;MQ=59.45;MQ0=0;MQRankSum=-0.443;QD=15.79;ReadPosRankSum=0.899 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2182,187,0 0/1:37,34:71:99:859,0,902 1/1:0,112:112:99:3213,277,0 0/1:39,43:82:99:1048,0,921 0/1:47,34:81:99:797,0,1145 0/1:38,41:79:99:981,0,879 0/1:34,49:83:99:1175,0,762 0/1:36,35:71:99:844,0,808 0/1:42,51:93:99:1197,0,985 1/1:0,68:68:99:1973,165,0 0/0:71,0:71:99:0,171,1994 0/1:37,39:76:99:997,0,803 0/1:48,31:79:99:728,0,1160 0/1:59,40:99:99:953,0,1438
1 1114668 1114668 G A exonic TTLL10 nonsynonymous SNV TTLL10:NM_001130045:exon4:c.G73A:p.G25S Score=243;Name=lod=13 NA rs6668667 NA NA NA 1 1114668 . G A 290.50 . AC=1;AF=0.036;AN=28;BaseQRankSum=0.060;DP=692;Dels=0.00;FS=9.428;HaplotypeScore=0.5582;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.036;MQ=59.51;MQ0=0;MQRankSum=0.352;QD=10.37;ReadPosRankSum=1.203 GT:AD:DP:GQ:PL 0/1:57,0:57:99:0,123,1592 0/0:81,0:81:99:0,184,2316 0/1:61,0:61:99:0,144,1770 0/0:54,0:54:99:0,123,1543 0/1:32,0:32:75:0,75,923 0/1:43,0:43:93:0,93,1170 0/0:49,0:49:99:0,105,1342 0/1:44,0:44:90:0,90,1183 0/1:42,0:42:90:0,90,1149 0/0:42,0:42:93:0,93,1181 0/1:55,0:55:99:0,135,1639 0/1:15,13:28:99:326,0,425 0/1:47,0:47:99:0,108,1362 0/1:57,0:57:99:0,126,1614
1 1116189 1116189 G A exonic TTLL10 nonsynonymous SNV TTLL10:NM_153254:exon4:c.G485A:p.R162Q,TTLL10:NM_001130045:exon8:c.G704A:p.R235Q NA NA rs137938349 NA NA NA 1 1116189 . G A 1401.50 . AC=1;AF=0.036;AN=28;BaseQRankSum=3.380;DP=986;Dels=0.00;FS=0.905;HaplotypeScore=1.2577;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.036;MQ=59.40;MQ0=0;MQRankSum=0.715;QD=15.93;ReadPosRankSum=-0.982 GT:AD:DP:GQ:PL 0/1:80,0:80:99:0,184,2267 0/0:95,0:95:99:0,211,2609 0/1:92,0:92:99:0,217,2624 0/0:71,0:71:99:0,171,2034 0/1:55,0:55:99:0,126,1538 0/1:71,0:71:99:0,156,1944 0/1:63,0:63:99:0,132,1667 0/1:41,2:43:50:0,50,1069 0/1:71,0:71:99:0,150,1914 0/1:53,0:53:99:0,117,1461 0/0:29,59:88:99:1437,0,606 0/0:71,0:71:99:0,159,1983 0/0:65,0:65:99:0,159,1950 0/0:68,0:68:99:0,150,1863
1 1118275 1118275 C T exonic TTLL10 synonymous SNV TTLL10:NM_153254:exon7:c.C717T:p.C239C,TTLL10:NM_001130045:exon11:c.C936T:p.C312C Score=452;Name=lod=92 NA rs61733845 NA NA NA 1 1118275 . C T 4623.08 . AC=5;AF=0.179;AN=28;BaseQRankSum=-18.217;DP=1036;Dels=0.00;FS=3.797;HaplotypeScore=1.1185;InbreedingCoeff=-0.2174;MLEAC=5;MLEAF=0.179;MQ=59.41;MQ0=0;MQRankSum=0.670;QD=11.70;ReadPosRankSum=0.904 GT:AD:DP:GQ:PL 0/0:79,0:80:99:0,172,2187 0/1:43,43:86:99:1058,0,998 0/1:42,58:100:99:1308,0,1060 0/0:78,0:78:99:0,175,2208 0/0:60,0:60:99:0,150,1835 0/0:61,0:61:99:0,150,1834 0/1:53,0:53:99:0,129,1603 0/0:77,0:77:99:0,169,2147 0/1:21,41:62:99:938,0,512 0/1:39,35:74:99:746,0,983 0/1:45,28:73:99:632,0,1105 0/0:85,0:85:99:0,187,2367 0/1:76,0:76:99:0,163,2119 0/1:71,0:71:99:0,159,2008
1 1120431 1120431 G A exonic TTLL10 nonsynonymous SNV TTLL10:NM_153254:exon9:c.G1124A:p.S375N,TTLL10:NM_001130045:exon13:c.G1343A:p.S448N Score=376;Name=lod=45 NA rs1320571 NA NA NA 1 1120431 . G A 12367.28 . AC=7;AF=0.250;AN=28;BaseQRankSum=-3.599;DP=1936;Dels=0.00;FS=0.522;HaplotypeScore=1.3872;InbreedingCoeff=0.0476;MLEAC=7;MLEAF=0.250;MQ=57.84;MQ0=0;MQRankSum=4.929;QD=14.07;ReadPosRankSum=-0.838 GT:AD:DP:GQ:PL 0/0:131,0:131:99:0,298,3750 0/1:77,87:164:99:2107,0,1801 0/1:84,105:189:99:2473,0,1918 0/0:148,0:148:99:0,331,4157 1/1:116,0:116:99:0,247,3122 0/1:135,0:135:99:0,316,3904 0/1:112,0:112:99:0,250,3144 0/1:45,62:107:99:1440,0,1132 0/1:57,86:143:99:2069,0,1259 1/1:0,99:99:99:2760,220,0 0/1:107,70:177:99:1588,0,2564 0/0:151,0:151:99:0,346,4306 0/1:135,0:135:99:0,310,3872 0/1:129,0:129:99:0,280,3544
1 1132938 1132938 G A exonic TTLL10 nonsynonymous SNV TTLL10:NM_001130045:exon16:c.G1733A:p.G578D NA NA rs2274791 NA NA NA 1 1132938 . G A 1284.89 . AC=4;AF=0.143;AN=28;BaseQRankSum=-7.031;DP=472;Dels=0.00;FS=4.321;HaplotypeScore=0.3528;InbreedingCoeff=-0.1667;MLEAC=4;MLEAF=0.143;MQ=58.96;MQ0=0;MQRankSum=0.254;QD=10.36;ReadPosRankSum=-0.160 GT:AD:DP:GQ:PL 0/1:36,0:36:72:0,72,947 0/0:33,0:33:81:0,81,993 0/0:38,0:38:84:0,84,1066 0/1:43,0:43:99:0,102,1247 0/1:20,14:34:99:311,0,429 0/0:28,0:28:72:0,72,850 0/0:13,11:24:99:261,0,309 0/0:35,0:35:78:0,78,992 0/0:45,0:45:99:0,102,1263 0/0:24,0:24:51:0,51,657 0/0:30,0:30:63:0,63,810 0/1:17,12:29:99:289,0,422 0/1:16,21:37:99:479,0,362 0/0:36,0:36:81:0,81,1023
1 1132966 1132966 C A exonic TTLL10 synonymous SNV TTLL10:NM_001130045:exon16:c.C1761A:p.P587P NA NA rs2274790 NA NA NA 1 1132966 . C A 1178.89 . AC=4;AF=0.143;AN=28;BaseQRankSum=-9.160;DP=377;Dels=0.00;FS=8.071;HaplotypeScore=0.4938;InbreedingCoeff=-0.1668;MLEAC=4;MLEAF=0.143;MQ=59.51;MQ0=0;MQRankSum=0.295;QD=11.67;ReadPosRankSum=-0.948 GT:AD:DP:GQ:PL 0/0:27,0:27:60:0,60,770 0/1:33,0:33:75:0,75,945 0/0:33,0:33:81:0,81,994 0/1:36,0:36:81:0,81,1025 0/0:11,12:23:99:281,0,258 0/0:18,0:18:48:0,48,575 0/0:11,14:25:99:356,0,271 0/0:30,0:30:63:0,63,817 0/0:36,0:36:87:0,87,1077 0/0:11,0:11:27:0,27,334 0/0:23,0:23:57:0,57,704 0/1:17,10:27:99:217,0,409 0/0:10,16:26:99:380,0,260 0/0:29,0:29:75:0,75,899
1 1133077 1133077 A G exonic TTLL10 synonymous SNV TTLL10:NM_001130045:exon16:c.A1872G:p.P624P NA NA rs2274789 NA NA NA 1 1133077 . A G 772.09 . AC=5;AF=0.179;AN=28;BaseQRankSum=-1.128;DP=307;Dels=0.00;FS=5.840;HaplotypeScore=0.1378;InbreedingCoeff=-0.2174;MLEAC=5;MLEAF=0.179;MQ=59.61;MQ0=0;MQRankSum=-0.110;QD=8.39;ReadPosRankSum=-2.224 GT:AD:DP:GQ:PL 0/1:18,0:18:51:0,51,559 0/1:23,0:23:57:0,57,680 0/1:36,0:36:87:0,87,1028 0/1:28,0:28:78:0,78,868 0/0:11,7:18:99:174,0,255 0/1:10,4:14:87:87,0,271 0/1:5,9:14:99:234,0,124 0/0:16,0:16:39:0,39,465 0/0:24,0:24:69:0,69,777 0/0:22,0:22:54:0,54,643 0/0:25,0:25:63:0,63,741 0/1:15,8:23:99:169,0,395 0/1:16,7:23:99:167,0,355 0/0:23,0:23:48:0,48,603
1 1222269 1222269 C T exonic SCNN1D nonsynonymous SNV SCNN1D:NM_001130413:exon8:c.C1033T:p.H345Y NA NA rs148117452 NA NA NA 1 1222269 . C T 1121.20 . AC=2;AF=0.071;AN=28;BaseQRankSum=-5.097;DP=850;Dels=0.00;FS=0.000;HaplotypeScore=5.8345;InbreedingCoeff=-0.0769;MLEAC=2;MLEAF=0.071;MQ=59.48;MQ0=1;MQRankSum=0.336;QD=12.46;ReadPosRankSum=-2.254 GT:AD:DP:GQ:PL 0/0:72,0:72:99:0,169,2107 0/0:65,0:65:99:0,150,1885 0/0:87,0:87:99:0,187,2402 0/0:56,0:56:99:0,123,1557 0/0:64,0:64:99:0,147,1868 0/1:45,0:45:99:0,105,1312 0/0:43,0:43:99:0,102,1278 0/0:66,0:66:99:0,141,1802 0/1:21,25:46:99:644,0,526 0/1:20,24:44:99:521,0,514 0/0:62,0:62:99:0,150,1854 0/0:60,0:60:99:0,132,1646 0/0:64,0:64:99:0,150,1884 0/0:76,0:76:99:0,169,2115
1 1223385 1223385 G C exonic SCNN1D nonsynonymous SNV SCNN1D:NM_001130413:exon12:c.G1630C:p.E544Q NA NA rs2228579 NA NA NA 1 1223385 . G C 2295.28 . AC=7;AF=0.250;AN=28;BaseQRankSum=2.968;DP=373;Dels=0.00;FS=2.559;HaplotypeScore=0.4219;InbreedingCoeff=0.0476;MLEAC=7;MLEAF=0.250;MQ=59.26;MQ0=0;MQRankSum=0.606;QD=14.81;ReadPosRankSum=-0.030 GT:AD:DP:GQ:PL 0/0:38,0:38:99:0,99,1181 0/1:13,21:34:99:565,0,277 0/1:19,20:39:99:522,0,454 0/0:29,0:29:69:0,69,856 0/1:22,0:22:60:0,60,705 0/0:26,0:26:66:0,66,811 0/1:27,0:27:69:0,69,842 0/1:13,10:23:99:288,0,341 0/1:14,11:25:99:294,0,374 1/1:0,16:16:42:498,42,0 0/0:28,0:28:75:0,75,903 0/1:11,7:18:99:198,0,282 0/0:22,0:22:51:0,51,637 0/0:26,0:26:60:0,60,730
1 1226757 1226757 G A exonic SCNN1D nonsynonymous SNV SCNN1D:NM_001130413:exon18:c.G2176A:p.G726S NA NA rs6690013 NA NA NA 1 1226757 . G A 462.50 . AC=1;AF=0.036;AN=28;BaseQRankSum=4.226;DP=421;Dels=0.00;FS=0.000;HaplotypeScore=0.4909;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.036;MQ=59.79;MQ0=0;MQRankSum=-0.377;QD=14.02;ReadPosRankSum=0.288 GT:AD:DP:GQ:PL 0/0:33,0:33:90:0,90,974 0/0:35,0:35:78:0,78,900 0/0:28,0:28:66:0,66,738 0/0:35,0:35:84:0,84,952 0/1:29,0:29:72:0,72,789 0/0:27,0:27:69:0,69,748 0/1:22,0:22:60:0,60,635 0/0:35,0:35:84:0,84,977 0/0:34,0:34:87:0,87,959 0/0:20,0:20:54:0,54,583 0/0:33,0:34:81:0,81,912 0/0:31,0:31:81:0,81,860 0/1:14,19:33:99:498,0,302 0/0:25,0:25:60:0,60,693
1 1226889 1226889 G A exonic SCNN1D nonsynonymous SNV SCNN1D:NM_001130413:exon18:c.G2308A:p.G770R NA NA rs609805 NA NA NA 1 1226889 . G A 837.50 . AC=1;AF=0.036;AN=28;BaseQRankSum=5.822;DP=1137;Dels=0.00;FS=0.803;HaplotypeScore=1.3273;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.036;MQ=59.47;MQ0=0;MQRankSum=-0.140;QD=9.20;ReadPosRankSum=-0.414 GT:AD:DP:GQ:PL 0/0:95,0:95:99:0,211,2473 0/0:103,0:103:99:0,220,2648 0/0:103,0:104:99:0,235,2759 0/0:74,0:74:99:0,162,1935 0/1:64,0:64:99:0,153,1745 0/1:57,0:57:99:0,123,1480 0/0:66,0:66:99:0,153,1777 0/0:82,0:82:99:0,174,2097 0/0:70,0:70:99:0,162,1868 0/0:86,0:86:99:0,183,2190 0/0:96,0:96:99:0,205,2491 0/0:75,0:75:99:0,171,1989 0/1:53,38:91:99:873,0,1133 0/0:74,0:74:99:0,162,1898