aih-tih-sc-3377ac-R1_A23YTGFLT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-3377ac-R1_A23YTGFLT4_1)

File Info

Filename: aih-tih-sc-3377ac-R1_A23YTGFLT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/c7/3cee1369ce6337673125e6c279dcfb/aih-tih-sc-3377ac-R1_A23YTGFLT4_1.arriba.fusions.tsv
Size: 540.2 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-3377ac-R1_A23YTGFLT4_1)
Attempt

Content

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#gene1

gene2

strand1(gene/fusion)

strand2(gene/fusion)

breakpoint1

breakpoint2

site1

site2

type

split_reads1

split_reads2

discordant_mates

coverage1

coverage2

confidence

reading_frame

tags

retained_protein_domains

closest_genomic_breakpoint1

closest_genomic_breakpoint2

gene_id1

gene_id2

transcript_id1

transcript_id2

direction1

direction2

filters

fusion_transcript

peptide_sequence

read_identifiers

GUCD1

UPB1

-/-

+/+

chr22:24547908

chr22:24520387

CDS/splice-site

inversion

119

120

1392

703

high

out-of-frame

Guanylylate_cyclase(35%)|Carbon-nitrogen_hydrolase(31%)

ENSG00000138867.17

ENSG00000100024.15

ENST00000621833.4

ENST00000498140.1

upstream

duplicates(260),mismatches(1)

GCCAGCTGGACGACAGTGAGTTTGAGAGAGCCCTGCAGAAGCTGCAGCTGACCAGGAGCATCTGGACCATCGACCTGGCCTACCTGATGCACCACTTTGGCGTGAGGCACCGCTTCTGTACCCAGACCCTGGGTGTCGACAAGGGCTACAAGAACCAG|CGAGTCCCTGTGGCCCATCGAGGCCAGAAACGCAGCCATTGCCAATCACTGCTTCACCTGCGCCATCAATCGAGTGGGCACC___CTCACCAGGACTTTGGCTACTTTTATGGCTCGAGCTATGTGGCAG

QLDDSEFERALQKLQLTRSIWTIDLAYLMHHFGVRHRFCTQTLGVDKGYKNQ|rvpvahrgqkrshcqsllhlrhqssghphqdfgyfygssyva

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:26895,LH00995:48:23YTGFLT4:4:1452:45220:14284,LH00995:48:23YTGFLT4:4:1473:15174:1953,LH00995:48:23YTGFLT4:4:1473:15182:1967,LH00995:48:23YTGFLT4:4:2103:29412:16077,LH00995:48:23YTGFLT4:4:2115:43440:4755,LH00995:48:23YTGFLT4:4:2149:34954:10767,LH00995:48:23YTGFLT4:4:2153:22236:17941,LH00995:48:23YTGFLT4:4:2183:16622:15138,LH00995:48:23YTGFLT4:4:2223:27600:2065,LH00995:48:23YTGFLT4:4:2257:13143:29571,LH00995:48:23YTGFLT4:4:2279:31054:21472,LH00995:48:23YTGFLT4:4:2293:21872:7978,LH00995:48:23YTGFLT4:4:2322:36636:6843,LH00995:48:23YTGFLT4:4:2330:42316:20351,LH00995:48:23YTGFLT4:4:2385:49435:17436,LH00995:48:23YTGFLT4:4:2386:14947:1841,LH00995:48:23YTGFLT4:4:2397:42858:5400,LH00995:48:23YTGFLT4:4:2401:32341:26194,LH00995:48:23YTGFLT4:4:2447:20270:28044,LH00995:48:23YTGFLT4:4:2461:36725:15265,LH00995:48:23YTGFLT4:4:2488:36636:25928,LH00995:48:23YTGFLT4:4:2493:3233:20393,LH00995:48:23YTGFLT4:5:1121:28514:17605,LH00995:48:23YTGFLT4:5:1174:6202:22985,LH00995:48:23YTGFLT4:5:1217:25205:12014,LH00995:48:23YTGFLT4:5:1260:45034:10654,LH00995:48:23YTGFLT4:5:1286:45277:8805,LH00995:48:23YTGFLT4:5:1301:14567:13569,LH00995:48:23YTGFLT4:5:1302:7828:4615,LH00995:48:23YTGFLT4:5:1302:7836:4629,LH00995:48:23YTGFLT4:5:1302:7844:4643,LH00995:48:23YTGFLT4:5:1334:15789:9968,LH00995:48:23YTGFLT4:5:1336:18426:4363,LH00995:48:23YTGFLT4:5:1353:47809:2709,LH00995:48:23YTGFLT4:5:1353:47817:2695,LH00995:48:23YTGFLT4:5:1371:4818:2177,LH00995:48:23YTGFLT4:5:1371:4827:2191,LH00995:48:23YTGFLT4:5:1384:7739:14186,LH00995:48:23YTGFLT4:5:1455:17673:23658,LH00995:48:23YTGFLT4:5:1455:17682:23672,LH00995:48:23YTGFLT4:5:1455:17690:23686,LH00995:48:23YTGFLT4:5:1455:17698:23700,LH00995:48:23YTGFLT4:5:1455:17706:23714,LH00995:48:23YTGFLT4:5:1466:39428:18515,LH00995:48:23YTGFLT4:5:1466:39444:18515,LH00995:48:23YTGFLT4:5:1468:1259:17114,LH00995:48:23YTGFLT4:5:1484:6655:15419,LH00995:48:23YTGFLT4:5:2112:48933:8160,LH00995:48:23YTGFLT4:5:2126:8071:17282,LH00995:48:23YTGFLT4:5:2150:21071:15755,LH00995:48:23YTGFLT4:5:2175:11881:13065,LH00995:48:23YTGFLT4:5:2185:49362:4643,LH00995:48:23YTGFLT4:5:2208:27624:7460,LH00995:48:23YTGFLT4:5:2237:46636:18165,LH00995:48:23YTGFLT4:5:2238:31596:10865,LH00995:48:23YTGFLT4:5:2259:26742:28604,LH00995:48:23YTGFLT4:5:2259:26750:28590,LH00995:48:23YTGFLT4:5:2272:24558:7502,LH00995:48:23YTGFLT4:5:2288:46911:11075,LH00995:48:23YTGFLT4:5:2289:4406:24022,LH00995:48:23YTGFLT4:5:2334:11752:17717,LH00995:48:23YTGFLT4:5:2352:15416:18796,LH00995:48:23YTGFLT4:5:2423:8386:28478,LH00995:48:23YTGFLT4:5:2425:11331:19370,LH00995:48:23YTGFLT4:5:2492:4568:13765,LH00995:48:23YTGFLT4:6:1112:34266:22439,LH00995:48:23YTGFLT4:6:1114:32875:20029,LH00995:48:23YTGFLT4:6:1119:5110:9884,LH00995:48:23YTGFLT4:6:1132:36928:6114,LH00995:48:23YTGFLT4:6:1163:21419:1364,LH00995:48:23YTGFLT4:6:1180:39379:12238,LH00995:48:23YTGFLT4:6:1186:13572:3018,LH00995:48:23YTGFLT4:6:1194:20877:21836,LH00995:48:23YTGFLT4:6:1195:42785:24050,LH00995:48:23YTGFLT4:6:1280:23846:21374,LH00995:48:23YTGFLT4:6:1303:31677:10697,LH00995:48:23YTGFLT4:6:1307:48027:13233,LH00995:48:23YTGFLT4:6:1307:48035:13247,LH00995:48:23YTGFLT4:6:1326:23053:11313,LH00995:48:23YTGFLT4:6:1446:32915:26292,LH00995:48:23YTGFLT4:6:1454:1534:28716,LH00995:48:23YTGFLT4:6:1460:24793:19342,LH00995:48:23YTGFLT4:6:1462:19122:25634,LH00995:48:23YTGFLT4:6:2142:51692:11789,LH00995:48:23YTGFLT4:6:2228:26597:16666,LH00995:48:23YTGFLT4:6:2231:50139:15825,LH00995:48:23YTGFLT4:6:2231:50155:15825,LH00995:48:23YTGFLT4:6:2339:43723:7207,LH00995:48:23YTGFLT4:6:2407:10595:3718,LH00995:48:23YTGFLT4:6:2415:39460:15265,LH00995:48:23YTGFLT4:6:2422:13871:23938,LH00995:48:23YTGFLT4:6:2427:1833:9477,LH00995:48:23YTGFLT4:6:2467:4988:9926,LH00995:48:23YTGFLT4:6:2498:6776:4475,LH00995:48:23YTGFLT4:7:1102:10651:24891,LH00995:48:23YTGFLT4:7:1102:10659:24905,LH00995:48:23YTGFLT4:7:1117:41596:25101,LH00995:48:23YTGFLT4:7:1144:45673:3214,LH00995:48:23YTGFLT4:7:1146:35747:19734,LH00995:48:23YTGFLT4:7:1146:47275:14648,LH00995:48:23YTGFLT4:7:1173:35261:13541,LH00995:48:23YTGFLT4:7:1177:39719:21458,LH00995:48:23YTGFLT4:7:1177:39735:21458,LH00995:48:23YTGFLT4:7:1184:48140:23714,LH00995:48:23YTGFLT4:7:1206:11760:21794,LH00995:48:23YTGFLT4:7:1207:40034:14045,LH00995:48:23YTGFLT4:7:1234:40487:28002,LH00995:48:23YTGFLT4:7:1256:40042:15068,LH00995:48:23YTGFLT4:7:1272:2141:12196,LH00995:48:23YTGFLT4:7:1280:49556:7586,LH00995:48:23YTGFLT4:7:1325:3419:1406,LH00995:48:23YTGFLT4:7:1325:3419:1434,LH00995:48:23YTGFLT4:7:1325:3427:1392,LH00995:48:23YTGFLT4:7:1325:3427:1420,LH00995:48:23YTGFLT4:7:1402:16484:25522,LH00995:48:23YTGFLT4:7:2132:43626:18557,LH00995:48:23YTGFLT4:7:2158:24752:2065,LH00995:48:23YTGFLT4:7:2173:36669:12224,LH00995:48:23YTGFLT4:7:2203:40714:22285,LH00995:48:23YTGFLT4:7:2230:19866:2457

GUCD1

UPB1

-/-

+/+

chr22:24547908

chr22:24523619

CDS/splice-site

inversion

1392

721

low

out-of-frame

Guanylylate_cyclase(35%)|Carbon-nitrogen_hydrolase(16%)

ENSG00000138867.17

ENSG00000100024.15

ENST00000621833.4

ENST00000326010.10

upstream

GTCGACAAGGGCTACAAGAACCAG|CTCACCAGGACTTTGGCTACTTTTATGGCTCGAGCTATGTGGCAGCCCCTGACAGCAGCCGG

VDKGYKNQ|ltrtlatfmaramwqpltaa

LH00995:48:23YTGFLT4:5:1295:27171:27890

RIMKLB

AC007450.1

+/+

-/-

chr12:8714041

chr12:11541526

CDS/splice-site

exon/splice-site

inversion

121

1745

high

out-of-frame

ENSG00000166532.16

ENSG00000256237.1

ENST00000544257.5

ENST00000536492.1

downstream

duplicates(100),mismatches(2)

GCATCAGGGAAGACTATCCTCAAAAAGAGATTTTACGAGCATTGAAGGCCAAATGTTGTGAGGAGGAACTGGACTTTAGGGCTGTGGTGATGGATGAGGTGGTGCTGACAATCGAGCAAGGAAACCTGG|GTGAGGATGCAAAGAGAAAGTGGCTGCCTGCAAACCAGGAGGAGAGCCCTCACCAGGAACCAATCTAGCTGACACTTTGAACTTGGA

IREDYPQKEILRALKAKCCEEELDFRAVVMDEVVLTIEQGNL|gedakrkwlpanqeesphqepi*

LH00995:48:23YTGFLT4:1:1108:41935:20477,LH00995:48:23YTGFLT4:1:1113:6145:7109,LH00995:48:23YTGFLT4:1:1125:42833:19146,LH00995:48:23YTGFLT4:1:1156:50349:1673,LH00995:48:23YTGFLT4:1:1156:50365:1673,LH00995:48:23YTGFLT4:1:1229:50584:20183,LH00995:48:23YTGFLT4:1:1251:5272:10697,LH00995:48:23YTGFLT4:1:1253:6938:12714,LH00995:48:23YTGFLT4:1:1266:45697:21444,LH00995:48:23YTGFLT4:1:1318:43416:22032,LH00995:48:23YTGFLT4:1:1328:30747:20155,LH00995:48:23YTGFLT4:1:1339:16331:1855,LH00995:48:23YTGFLT4:1:1349:15360:26292,LH00995:48:23YTGFLT4:1:1372:48440:27904,LH00995:48:23YTGFLT4:1:1387:40592:23280,LH00995:48:23YTGFLT4:1:1390:49427:17394,LH00995:48:23YTGFLT4:1:1432:2691:16876,LH00995:48:23YTGFLT4:1:1453:16978:24218,LH00995:48:23YTGFLT4:1:2105:4511:23840,LH00995:48:23YTGFLT4:1:2181:36790:11509,LH00995:48:23YTGFLT4:1:2201:34606:21430,LH00995:48:23YTGFLT4:1:2210:35091:4251,LH00995:48:23YTGFLT4:1:2248:25731:12672,LH00995:48:23YTGFLT4:1:2303:29501:22985,LH00995:48:23YTGFLT4:1:2304:10619:5918,LH00995:48:23YTGFLT4:1:2426:12124:17436,LH00995:48:23YTGFLT4:1:2464:33255:19734,LH00995:48:23YTGFLT4:2:1104:36272:12686,LH00995:48:23YTGFLT4:2:1111:22689:24723,LH00995:48:23YTGFLT4:2:1116:5684:9421,LH00995:48:23YTGFLT4:2:1128:15230:7039,LH00995:48:23YTGFLT4:2:1135:29517:2527,LH00995:48:23YTGFLT4:2:1144:9446:21682,LH00995:48:23YTGFLT4:2:1171:12488:26530,LH00995:48:23YTGFLT4:2:1188:10991:15054,LH00995:48:23YTGFLT4:2:1191:40932:20841,LH00995:48:23YTGFLT4:2:1271:18669:27035,LH00995:48:23YTGFLT4:2:1334:41385:20337,LH00995:48:23YTGFLT4:2:1357:33150:21150,LH00995:48:23YTGFLT4:2:1372:8896:19440,LH00995:48:23YTGFLT4:2:1390:45430:12462,LH00995:48:23YTGFLT4:2:1413:15602:16512,LH00995:48:23YTGFLT4:2:1456:41143:16610,LH00995:48:23YTGFLT4:2:1465:4616:23041,LH00995:48:23YTGFLT4:2:1466:20133:9281,LH00995:48:23YTGFLT4:2:1485:50519:24330,LH00995:48:23YTGFLT4:2:1497:51385:3859,LH00995:48:23YTGFLT4:2:1498:32179:6913,LH00995:48:23YTGFLT4:2:2130:25513:11481,LH00995:48:23YTGFLT4:2:2144:7019:1504,LH00995:48:23YTGFLT4:2:2173:37809:23896,LH00995:48:23YTGFLT4:2:2174:40018:1659,LH00995:48:23YTGFLT4:2:2197:20521:23322,LH00995:48:23YTGFLT4:2:2231:6170:8693,LH00995:48:23YTGFLT4:2:2242:26217:8973,LH00995:48:23YTGFLT4:2:2256:48933:23406,LH00995:48:23YTGFLT4:2:2276:19947:28212,LH00995:48:23YTGFLT4:2:2394:29493:1308,LH00995:48:23YTGFLT4:3:1144:49702:3718,LH00995:48:23YTGFLT4:3:1144:49710:3704,LH00995:48:23YTGFLT4:3:1144:49710:3732,LH00995:48:23YTGFLT4:3:1151:13475:2990,LH00995:48:23YTGFLT4:3:1187:38465:27133,LH00995:48:23YTGFLT4:3:1296:27673:4461,LH00995:48:23YTGFLT4:3:1306:23458:24232,LH00995:48:23YTGFLT4:3:1318:51465:27483,LH00995:48:23YTGFLT4:3:1335:7949:16988,LH00995:48:23YTGFLT4:3:1335:7957:17002,LH00995:48:23YTGFLT4:3:1414:20448:17619,LH00995:48:23YTGFLT4:3:1439:2917:6703,LH00995:48:23YTGFLT4:3:1444:14607:5708,LH00995:48:23YTGFLT4:3:1456:18555:19496,LH00995:48:23YTGFLT4:3:1472:27657:1294,LH00995:48:23YTGFLT4:3:1474:20869:5372,LH00995:48:23YTGFLT4:3:2209:3654:4391,LH00995:48:23YTGFLT4:3:2223:2958:15012,LH00995:48:23YTGFLT4:3:2259:17746:23560,LH00995:48:23YTGFLT4:3:2262:46134:28730,LH00995:48:23YTGFLT4:3:2288:37753:15951,LH00995:48:23YTGFLT4:3:2303:43189:9001,LH00995:48:23YTGFLT4:3:2333:33465:11411,LH00995:48:23YTGFLT4:3:2365:42664:1140,LH00995:48:23YTGFLT4:3:2381:1081:27651,LH00995:48:23YTGFLT4:3:2391:7326:10192,LH00995:48:23YTGFLT4:3:2407:8831:20869,LH00995:48:23YTGFLT4:3:2493:42874:1645,LH00995:48:23YTGFLT4:3:2493:47873:4783,LH00995:48:23YTGFLT4:4:1132:47987:12742,LH00995:48:23YTGFLT4:4:1167:41046:23280,LH00995:48:23YTGFLT4:4:1171:47404:2822,LH00995:48:23YTGFLT4:4:1182:50883:17955,LH00995:48:23YTGFLT4:4:1189:42105:10402,LH00995:48:23YTGFLT4:4:1189:42558:11579,LH00995:48:23YTGFLT4:4:1198:8637:22523,LH00995:48:23YTGFLT4:4:1222:42324:5876,LH00995:48:23YTGFLT4:4:1249:21193:21542,LH00995:48:23YTGFLT4:4:1282:19429:17983,LH00995:48:23YTGFLT4:4:1296:49297:22551,LH00995:48:23YTGFLT4:4:1307:22859:26306,LH00995:48:23YTGFLT4:4:1307:22867:26320,LH00995:48:23YTGFLT4:4:1332:29574:18123,LH00995:48:23YTGFLT4:4:1375:3823:27525,LH00995:48:23YTGFLT4:4:2123:46555:28786,LH00995:48:23YTGFLT4:4:2149:29299:7866,LH00995:48:23YTGFLT4:4:2153:11533:3887,LH00995:48:23YTGFLT4:4:2165:7755:17100,LH00995:48:23YTGFLT4:4:2188:11339:9772,LH00995:48:23YTGFLT4:4:2216:13548:29655,LH00995:48:23YTGFLT4:4:2237:14446:13527,LH00995:48:23YTGFLT4:4:2267:19000:9533,LH00995:48:23YTGFLT4:4:2269:27017:19692,LH00995:48:23YTGFLT4:4:2296:34808:17801,LH00995:48:23YTGFLT4:4:2313:21007:23602,LH00995:48:23YTGFLT4:4:2318:26192:26222,LH00995:48:23YTGFLT4:4:2331:47639:24190,LH00995:48:23YTGFLT4:4:2449:42494:13681,LH00995:48:23YTGFLT4:5:1111:21718:16904,LH00995:48:23YTGFLT4:5:1120:38174:19146,LH00995:48:23YTGFLT4:5:1146:50325:6227,LH00995:48:23YTGFLT4:5:1168:43319:19903,LH00995:48:23YTGFLT4:5:1205:52113:23448,LH00995:48:23YTGFLT4:5:1238:48691:19034,LH00995:48:23YTGFLT4:5:1266:11420:3130,LH00995:48:23YTGFLT4:5:1279:23692:1603,LH00995:48:23YTGFLT4:5:1307:46061:5624,LH00995:48:23YTGFLT4:5:1310:21096:1925,LH00995:48:23YTGFLT4:5:1314:30998:15096,LH00995:48:23YTGFLT4:5:1336:12690:11972,LH00995:48:23YTGFLT4:5:1343:25310:26572,LH00995:48:23YTGFLT4:5:1348:51053:5134,LH00995:48:23YTGFLT4:5:1389:5126:15012,LH00995:48:23YTGFLT4:5:1414:32753:26096,LH00995:48:23YTGFLT4:5:1428:24445:11846,LH00995:48:23YTGFLT4:5:1448:3071:4195,LH00995:48:23YTGFLT4:5:1449:37842:11453,LH00995:48:23YTGFLT4:5:1457:13353:12952,LH00995:48:23YTGFLT4:5:1473:35844:24358,LH00995:48:23YTGFLT4:5:1477:20392:28058,LH00995:48:23YTGFLT4:5:2217:42227:23308,LH00995:48:23YTGFLT4:5:2242:31087:8721,LH00995:48:23YTGFLT4:5:2278:36685:5890,LH00995:48:23YTGFLT4:5:2289:28684:17198,LH00995:48:23YTGFLT4:5:2295:40665:4097,LH00995:48:23YTGFLT4:5:2312:40091:7950,LH00995:48:23YTGFLT4:5:2357:26403:25774,LH00995:48:23YTGFLT4:5:2365:9025:23448,LH00995:48:23YTGFLT4:5:2454:46425:29151,LH00995:48:23YTGFLT4:6:1123:49589:14788,LH00995:48:23YTGFLT4:6:1160:4560:12742,LH00995:48:23YTGFLT4:6:1190:44524:24793,LH00995:48:23YTGFLT4:6:1197:27050:25550,LH00995:48:23YTGFLT4:6:1209:15513:14872,LH00995:48:23YTGFLT4:6:1209:44095:10907,LH00995:48:23YTGFLT4:6:1228:42906:23027,LH00995:48:23YTGFLT4:6:1236:22576:11271,LH00995:48:23YTGFLT4:6:1237:47461:9225,LH00995:48:23YTGFLT4:6:1255:5191:10977,LH00995:48:23YTGFLT4:6:1272:14802:19917,LH00995:48:23YTGFLT4:6:1287:20723:21570,LH00995:48:23YTGFLT4:6:1290:13014:14242,LH00995:48:23YTGFLT4:6:1304:41312:14914,LH00995:48:23YTGFLT4:6:1315:32357:20813,LH00995:48:23YTGFLT4:6:1327:4471:6843,LH00995:48:23YTGFLT4:6:1342:1510:8973,LH00995:48:23YTGFLT4:6:1380:8208:12476,LH00995:48:23YTGFLT4:6:1393:8815:27371,LH00995:48:23YTGFLT4:6:1402:50842:23574,LH00995:48:23YTGFLT4:6:1478:46255:8370,LH00995:48:23YTGFLT4:6:1488:34169:1364,LH00995:48:23YTGFLT4:6:2113:31321:17282,LH00995:48:23YTGFLT4:6:2150:26265:22677,LH00995:48:23YTGFLT4:6:2179:17698:7053,LH00995:48:23YTGFLT4:6:2187:30205:28044,LH00995:48:23YTGFLT4:6:2241:38028:12420,LH00995:48:23YTGFLT4:6:2247:15740:16722,LH00995:48:23YTGFLT4:6:2256:33489:12658,LH00995:48:23YTGFLT4:6:2260:31807:11509,LH00995:48:23YTGFLT4:6:2273:39792:12896,LH00995:48:23YTGFLT4:6:2295:25569:11467,LH00995:48:23YTGFLT4:6:2304:13507:24513,LH00995:48:23YTGFLT4:6:2304:46328:16287,LH00995:48:23YTGFLT4:6:2330:47404:27175,LH00995:48:23YTGFLT4:6:2347:34420:11523,LH00995:48:23YTGFLT4:6:2357:27317:5610,LH00995:48:23YTGFLT4:6:2375:39913:2653,LH00995:48:23YTGFLT4:6:2439:18466:14073,LH00995:48:23YTGFLT4:6:2443:25933:25101,LH00995:48:23YTGFLT4:7:1101:43238:16512,LH00995:48:23YTGFLT4:7:1121:2327:14452,LH00995:48:23YTGFLT4:7:1155:39144:15251,LH00995:48:23YTGFLT4:7:1158:5943:25479,LH00995:48:23YTGFLT4:7:1209:48003:10416,LH00995:48:23YTGFLT4:7:1226:50770:18403,LH00995:48:23YTGFLT4:7:1229:17576:21444,LH00995:48:23YTGFLT4:7:1247:34865:3326,LH00995:48:23YTGFLT4:7:1253:9875:22929,LH00995:48:23YTGFLT4:7:1266:30787:14228,LH00995:48:23YTGFLT4:7:1321:18369:3648,LH00995:48:23YTGFLT4:7:1321:18385:3648,LH00995:48:23YTGFLT4:7:1329:9859:25479,LH00995:48:23YTGFLT4:7:1360:36297:28114,LH00995:48:23YTGFLT4:7:1363:44751:25550,LH00995:48:23YTGFLT4:7:1429:11541:12000,LH00995:48:23YTGFLT4:7:1439:40253:1813,LH00995:48:23YTGFLT4:7:1440:24267:23364,LH00995:48:23YTGFLT4:7:1449:6339:17563,LH00995:48:23YTGFLT4:7:2114:37316:24190,LH00995:48:23YTGFLT4:7:2121:16209:2261,LH00995:48:23YTGFLT4:7:2201:15643:12238,LH00995:48:23YTGFLT4:7:2219:6979:14606,LH00995:48:23YTGFLT4:7:2272:27398:17773,LH00995:48:23YTGFLT4:7:2294:22244:18992,LH00995:48:23YTGFLT4:7:2305:3217:1504,LH00995:48:23YTGFLT4:1:1144:23126:12308,LH00995:48:23YTGFLT4:1:1206:10166:4657,LH00995:48:23YTGFLT4:1:1439:40026:20701,LH00995:48:23YTGFLT4:1:2182:18919:13009,LH00995:48:23YTGFLT4:1:2280:29922:23630,LH00995:48:23YTGFLT4:1:2290:20343:19847,LH00995:48:23YTGFLT4:1:2322:4252:13527,LH00995:48:23YTGFLT4:1:2336:43642:26937,LH00995:48:23YTGFLT4:2:1211:26128:18740,LH00995:48:23YTGFLT4:2:1237:24752:10052,LH00995:48:23YTGFLT4:2:2156:23514:5750,LH00995:48:23YTGFLT4:3:1304:43812:22271,LH00995:48:23YTGFLT4:3:2297:47801:15615,LH00995:48:23YTGFLT4:3:2428:27123:18669,LH00995:48:23YTGFLT4:3:2467:46183:4909,LH00995:48:23YTGFLT4:3:2483:25626:24765,LH00995:48:23YTGFLT4:4:1344:27559:7880,LH00995:48:23YTGFLT4:4:2162:28959:13891,LH00995:48:23YTGFLT4:4:2288:30982:25662,LH00995:48:23YTGFLT4:5:1342:48424:2177,LH00995:48:23YTGFLT4:5:1482:4414:19384,LH00995:48:23YTGFLT4:5:2169:35358:26404,LH00995:48:23YTGFLT4:5:2347:9163:7376,LH00995:48:23YTGFLT4:5:2378:4940:19510,LH00995:48:23YTGFLT4:5:2419:6032:17254,LH00995:48:23YTGFLT4:5:2496:36645:23728,LH00995:48:23YTGFLT4:6:1171:36167:17605,LH00995:48:23YTGFLT4:6:1321:24809:23013,LH00995:48:23YTGFLT4:6:1444:43764:21150,LH00995:48:23YTGFLT4:6:2258:32697:2149,LH00995:48:23YTGFLT4:6:2394:21136:13121,LH00995:48:23YTGFLT4:7:1246:26111:28912,LH00995:48:23YTGFLT4:7:1385:49087:12154,LH00995:48:23YTGFLT4:7:2242:8524:10977

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1555

607

high

out-of-frame

SNARE_domain(49%),Syntaxin(100%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%)

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

duplicates(138),mismappers(3),mismatches(8)

CGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATG

RQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|agyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00995:48:23YTGFLT4:1:1179:4365:15236,LH00995:48:23YTGFLT4:1:1222:29946:4391,LH00995:48:23YTGFLT4:1:1271:20125:23111,LH00995:48:23YTGFLT4:1:1289:7561:15363,LH00995:48:23YTGFLT4:1:1319:46005:22285,LH00995:48:23YTGFLT4:1:1319:46013:22271,LH00995:48:23YTGFLT4:1:1325:22220:19566,LH00995:48:23YTGFLT4:1:1496:18450:8076,LH00995:48:23YTGFLT4:1:2107:38772:1378,LH00995:48:23YTGFLT4:1:2135:27810:26979,LH00995:48:23YTGFLT4:1:2173:23272:21836,LH00995:48:23YTGFLT4:1:2183:11922:10388,LH00995:48:23YTGFLT4:1:2183:11938:10388,LH00995:48:23YTGFLT4:1:2213:2108:20183,LH00995:48:23YTGFLT4:1:2291:11266:20071,LH00995:48:23YTGFLT4:1:2313:36507:25479,LH00995:48:23YTGFLT4:1:2353:46522:5554,LH00995:48:23YTGFLT4:2:1325:28668:28044,LH00995:48:23YTGFLT4:2:1344:22738:9505,LH00995:48:23YTGFLT4:2:1353:41062:24373,LH00995:48:23YTGFLT4:2:1362:37696:2289,LH00995:48:23YTGFLT4:2:1362:37712:2289,LH00995:48:23YTGFLT4:2:2108:14494:22187,LH00995:48:23YTGFLT4:2:2112:9511:8679,LH00995:48:23YTGFLT4:2:2113:35350:24709,LH00995:48:23YTGFLT4:2:2131:24793:11860,LH00995:48:23YTGFLT4:2:2163:8046:10122,LH00995:48:23YTGFLT4:2:2204:51838:12490,LH00995:48:23YTGFLT4:2:2224:21516:6241,LH00995:48:23YTGFLT4:3:1104:49200:7978,LH00995:48:23YTGFLT4:3:1106:24210:1070,LH00995:48:23YTGFLT4:3:1114:7990:2513,LH00995:48:23YTGFLT4:3:1178:18790:22032,LH00995:48:23YTGFLT4:3:1259:48577:15110,LH00995:48:23YTGFLT4:3:1369:2642:24218,LH00995:48:23YTGFLT4:3:1380:33926:22187,LH00995:48:23YTGFLT4:3:1381:44694:27385,LH00995:48:23YTGFLT4:3:1381:44710:27385,LH00995:48:23YTGFLT4:3:1421:1526:27413,LH00995:48:23YTGFLT4:3:1421:7027:26628,LH00995:48:23YTGFLT4:3:1421:7043:26628,LH00995:48:23YTGFLT4:3:2107:31030:28212,LH00995:48:23YTGFLT4:3:2476:43731:14956,LH00995:48:23YTGFLT4:3:2483:33587:8931,LH00995:48:23YTGFLT4:4:1192:31588:9197,LH00995:48:23YTGFLT4:4:1278:50098:4265,LH00995:48:23YTGFLT4:4:1297:26953:14424,LH00995:48:23YTGFLT4:4:1352:22803:17156,LH00995:48:23YTGFLT4:4:1445:2343:26446,LH00995:48:23YTGFLT4:4:2119:23959:11677,LH00995:48:23YTGFLT4:4:2138:19971:14270,LH00995:48:23YTGFLT4:4:2230:22527:14550,LH00995:48:23YTGFLT4:4:2232:10174:6521,LH00995:48:23YTGFLT4:4:2247:20198:16932,LH00995:48:23YTGFLT4:4:2289:7626:29767,LH00995:48:23YTGFLT4:4:2327:49144:18641,LH00995:48:23YTGFLT4:4:2354:5021:24022,LH00995:48:23YTGFLT4:4:2410:38918:10318,LH00995:48:23YTGFLT4:4:2445:42761:25381,LH00995:48:23YTGFLT4:5:1130:26912:22649,LH00995:48:23YTGFLT4:5:1141:4276:15054,LH00995:48:23YTGFLT4:5:1163:38780:18459,LH00995:48:23YTGFLT4:5:1183:5021:3060,LH00995:48:23YTGFLT4:5:1257:14761:10038,LH00995:48:23YTGFLT4:5:1257:14777:10038,LH00995:48:23YTGFLT4:5:1268:4446:7614,LH00995:48:23YTGFLT4:5:1301:25505:12056,LH00995:48:23YTGFLT4:5:1338:40099:10542,LH00995:48:23YTGFLT4:5:1344:46231:12476,LH00995:48:23YTGFLT4:5:1365:41401:16105,LH00995:48:23YTGFLT4:5:1365:41410:16091,LH00995:48:23YTGFLT4:5:1428:9867:15405,LH00995:48:23YTGFLT4:5:2105:35002:15391,LH00995:48:23YTGFLT4:5:2213:30779:14130,LH00995:48:23YTGFLT4:5:2292:9219:7670,LH00995:48:23YTGFLT4:5:2375:7974:8679,LH00995:48:23YTGFLT4:5:2398:33417:18361,LH00995:48:23YTGFLT4:5:2421:49864:1084,LH00995:48:23YTGFLT4:5:2434:28870:8272,LH00995:48:23YTGFLT4:5:2443:17851:1799,LH00995:48:23YTGFLT4:5:2443:17860:1785,LH00995:48:23YTGFLT4:6:1132:48812:23476,LH00995:48:23YTGFLT4:6:1150:29978:12995,LH00995:48:23YTGFLT4:6:1150:29986:13009,LH00995:48:23YTGFLT4:6:1191:17835:10711,LH00995:48:23YTGFLT4:6:1202:19639:8651,LH00995:48:23YTGFLT4:6:1203:1591:29235,LH00995:48:23YTGFLT4:6:1246:38513:22789,LH00995:48:23YTGFLT4:6:1246:38521:22775,LH00995:48:23YTGFLT4:6:1246:8516:2892,LH00995:48:23YTGFLT4:6:1246:8524:2878,LH00995:48:23YTGFLT4:6:1296:12075:26516,LH00995:48:23YTGFLT4:6:1296:12083:26502,LH00995:48:23YTGFLT4:6:1328:4600:15026,LH00995:48:23YTGFLT4:6:1339:7941:21458,LH00995:48:23YTGFLT4:6:1341:45107:23896,LH00995:48:23YTGFLT4:6:1368:48189:20911,LH00995:48:23YTGFLT4:6:1460:14551:7011,LH00995:48:23YTGFLT4:6:1494:17649:9547,LH00995:48:23YTGFLT4:6:2173:17544:1210,LH00995:48:23YTGFLT4:6:2192:9308:5946,LH00995:48:23YTGFLT4:6:2237:38101:14228,LH00995:48:23YTGFLT4:6:2260:1671:16568,LH00995:48:23YTGFLT4:6:2328:46862:1182,LH00995:48:23YTGFLT4:6:2371:27729:17254,LH00995:48:23YTGFLT4:6:2384:14041:11817,LH00995:48:23YTGFLT4:6:2384:14057:11817,LH00995:48:23YTGFLT4:6:2391:48585:29445,LH00995:48:23YTGFLT4:6:2414:26572:20463,LH00995:48:23YTGFLT4:6:2482:7496:11972,LH00995:48:23YTGFLT4:7:1131:51409:13625,LH00995:48:23YTGFLT4:7:1135:46846:22733,LH00995:48:23YTGFLT4:7:1187:15230:23350,LH00995:48:23YTGFLT4:7:1221:44969:18922,LH00995:48:23YTGFLT4:7:1227:36596:13219,LH00995:48:23YTGFLT4:7:1227:36604:13233,LH00995:48:23YTGFLT4:7:1238:22487:16610,LH00995:48:23YTGFLT4:7:1277:33862:13611,LH00995:48:23YTGFLT4:7:1397:41911:1546,LH00995:48:23YTGFLT4:7:1409:4479:1196,LH00995:48:23YTGFLT4:7:1409:4487:1182,LH00995:48:23YTGFLT4:7:1466:11460:11607,LH00995:48:23YTGFLT4:7:1478:6574:3788,LH00995:48:23YTGFLT4:7:2145:4713:16231,LH00995:48:23YTGFLT4:7:2164:13548:15054,LH00995:48:23YTGFLT4:7:2182:2416:4377,LH00995:48:23YTGFLT4:7:2189:10271:16301,LH00995:48:23YTGFLT4:7:2293:51538:6591,LH00995:48:23YTGFLT4:1:1120:41280:14410,LH00995:48:23YTGFLT4:1:1134:49338:25311,LH00995:48:23YTGFLT4:1:1160:18143:18613,LH00995:48:23YTGFLT4:1:1168:30504:2527,LH00995:48:23YTGFLT4:1:1189:22277:10304,LH00995:48:23YTGFLT4:1:1191:7690:3032,LH00995:48:23YTGFLT4:1:1350:50147:19118,LH00995:48:23YTGFLT4:1:1404:20448:25886,LH00995:48:23YTGFLT4:1:2172:32810:26727,LH00995:48:23YTGFLT4:1:2227:51061:5232,LH00995:48:23YTGFLT4:1:2336:29347:2065,LH00995:48:23YTGFLT4:1:2386:51587:20575,LH00995:48:23YTGFLT4:1:2426:44993:13499,LH00995:48:23YTGFLT4:1:2440:25343:1126,LH00995:48:23YTGFLT4:1:2446:14243:17885,LH00995:48:23YTGFLT4:1:2456:17876:22439,LH00995:48:23YTGFLT4:1:2484:26395:29263,LH00995:48:23YTGFLT4:2:1106:19736:25550,LH00995:48:23YTGFLT4:2:1123:47979:5050,LH00995:48:23YTGFLT4:2:1180:39403:8076,LH00995:48:23YTGFLT4:2:1215:38691:10991,LH00995:48:23YTGFLT4:2:1243:16889:6325,LH00995:48:23YTGFLT4:2:1257:11274:5120,LH00995:48:23YTGFLT4:2:1257:11282:5134,LH00995:48:23YTGFLT4:2:1267:37704:8889,LH00995:48:23YTGFLT4:2:1316:50640:17871,LH00995:48:23YTGFLT4:2:1331:23312:8286,LH00995:48:23YTGFLT4:2:1331:23320:8272,LH00995:48:23YTGFLT4:2:1331:23328:8286,LH00995:48:23YTGFLT4:2:1331:23336:8300,LH00995:48:23YTGFLT4:2:1331:23345:8286,LH00995:48:23YTGFLT4:2:1331:23361:8286,LH00995:48:23YTGFLT4:2:1495:12407:21878,LH00995:48:23YTGFLT4:2:2129:29711:18866,LH00995:48:23YTGFLT4:2:2129:29719:18852,LH00995:48:23YTGFLT4:2:2140:1170:12308,LH00995:48:23YTGFLT4:2:2154:44184:20085,LH00995:48:23YTGFLT4:2:2201:35027:28268,LH00995:48:23YTGFLT4:2:2240:22803:12728,LH00995:48:23YTGFLT4:2:2253:50470:25423,LH00995:48:23YTGFLT4:2:2292:50098:17044,LH00995:48:23YTGFLT4:2:2363:36410:7684,LH00995:48:23YTGFLT4:2:2366:10562:22859,LH00995:48:23YTGFLT4:2:2391:23887:9618,LH00995:48:23YTGFLT4:2:2426:22155:27273,LH00995:48:23YTGFLT4:2:2482:45463:25129,LH00995:48:23YTGFLT4:2:2488:46110:25858,LH00995:48:23YTGFLT4:3:1125:21597:12742,LH00995:48:23YTGFLT4:3:1125:21613:12742,LH00995:48:23YTGFLT4:3:1194:37373:2485,LH00995:48:23YTGFLT4:3:1194:37381:2471,LH00995:48:23YTGFLT4:3:1302:23159:7067,LH00995:48:23YTGFLT4:3:1343:49572:12546,LH00995:48:23YTGFLT4:3:1343:50139:23924,LH00995:48:23YTGFLT4:3:1366:19834:1757,LH00995:48:23YTGFLT4:3:1475:30084:23910,LH00995:48:23YTGFLT4:3:2109:18919:14522,LH00995:48:23YTGFLT4:3:2124:27746:13891,LH00995:48:23YTGFLT4:3:2124:27754:13905,LH00995:48:23YTGFLT4:3:2248:15619:6311,LH00995:48:23YTGFLT4:3:2304:41871:4867,LH00995:48:23YTGFLT4:3:2315:8807:4125,LH00995:48:23YTGFLT4:3:2325:7432:21864,LH00995:48:23YTGFLT4:3:2368:15335:9716,LH00995:48:23YTGFLT4:3:2440:2351:21136,LH00995:48:23YTGFLT4:4:1102:34412:1617,LH00995:48:23YTGFLT4:4:1107:6655:9281,LH00995:48:23YTGFLT4:4:1164:20764:16904,LH00995:48:23YTGFLT4:4:1214:29064:23686,LH00995:48:23YTGFLT4:4:1268:21104:6114,LH00995:48:23YTGFLT4:4:1288:46077:27932,LH00995:48:23YTGFLT4:4:1294:31831:29151,LH00995:48:23YTGFLT4:4:1304:6388:29697,LH00995:48:23YTGFLT4:4:1358:1016:7642,LH00995:48:23YTGFLT4:4:1405:38012:1350,LH00995:48:23YTGFLT4:4:1425:1963:10963,LH00995:48:23YTGFLT4:4:1438:33635:5400,LH00995:48:23YTGFLT4:4:1454:7747:4559,LH00995:48:23YTGFLT4:4:1464:21856:22383,LH00995:48:23YTGFLT4:4:1490:10506:16848,LH00995:48:23YTGFLT4:4:1494:7812:22579,LH00995:48:23YTGFLT4:4:2137:44921:18081,LH00995:48:23YTGFLT4:4:2140:35132:29039,LH00995:48:23YTGFLT4:4:2140:41588:3452,LH00995:48:23YTGFLT4:4:2175:17698:15489,LH00995:48:23YTGFLT4:4:2211:6291:13723,LH00995:48:23YTGFLT4:4:2211:6299:13709,LH00995:48:23YTGFLT4:4:2242:18952:22929,LH00995:48:23YTGFLT4:4:2245:16153:5918,LH00995:48:23YTGFLT4:4:2306:8362:20309,LH00995:48:23YTGFLT4:4:2338:45446:24849,LH00995:48:23YTGFLT4:4:2411:43764:16554,LH00995:48:23YTGFLT4:4:2425:39387:2079,LH00995:48:23YTGFLT4:4:2453:14227:14606,LH00995:48:23YTGFLT4:4:2456:35844:2023,LH00995:48:23YTGFLT4:4:2485:45495:13919,LH00995:48:23YTGFLT4:4:2491:48157:17296,LH00995:48:23YTGFLT4:5:1153:18992:14592,LH00995:48:23YTGFLT4:5:1176:4082:17745,LH00995:48:23YTGFLT4:5:1187:29275:15755,LH00995:48:23YTGFLT4:5:1195:17245:2738,LH00995:48:23YTGFLT4:5:1207:30342:4517,LH00995:48:23YTGFLT4:5:1260:29315:16301,LH00995:48:23YTGFLT4:5:1260:29323:16315,LH00995:48:23YTGFLT4:5:1266:35075:3662,LH00995:48:23YTGFLT4:5:1346:24995:2822,LH00995:48:23YTGFLT4:5:1404:37623:13429,LH00995:48:23YTGFLT4:5:2102:13669:22551,LH00995:48:23YTGFLT4:5:2146:48674:7516,LH00995:48:23YTGFLT4:5:2279:38254:4629,LH00995:48:23YTGFLT4:5:2298:24032:27301,LH00995:48:23YTGFLT4:5:2397:30229:5358,LH00995:48:23YTGFLT4:5:2432:32519:5736,LH00995:48:23YTGFLT4:5:2459:16015:9716,LH00995:48:23YTGFLT4:6:1117:32025:23714,LH00995:48:23YTGFLT4:6:1142:17827:16357,LH00995:48:23YTGFLT4:6:1156:14915:6885,LH00995:48:23YTGFLT4:6:1164:18442:12602,LH00995:48:23YTGFLT4:6:1292:29889:9253,LH00995:48:23YTGFLT4:6:2101:30488:25031,LH00995:48:23YTGFLT4:6:2110:31499:20113,LH00995:48:23YTGFLT4:6:2115:1680:19973,LH00995:48:23YTGFLT4:6:2120:11468:25437,LH00995:48:23YTGFLT4:6:2120:11477:25423,LH00995:48:23YTGFLT4:6:2162:19906:28254,LH00995:48:23YTGFLT4:6:2187:48852:11131,LH00995:48:23YTGFLT4:6:2187:48860:11117,LH00995:48:23YTGFLT4:6:2252:46255:17338,LH00995:48:23YTGFLT4:6:2270:27996:17156,LH00995:48:23YTGFLT4:6:2295:10854:12238,LH00995:48:23YTGFLT4:6:2305:50794:15419,LH00995:48:23YTGFLT4:6:2321:49144:22313,LH00995:48:23YTGFLT4:6:2328:7488:14760,LH00995:48:23YTGFLT4:6:2336:7043:5694,LH00995:48:23YTGFLT4:6:2358:22600:11369,LH00995:48:23YTGFLT4:6:2364:46895:19426,LH00995:48:23YTGFLT4:7:1136:49953:26012,LH00995:48:23YTGFLT4:7:1143:22252:15447,LH00995:48:23YTGFLT4:7:1188:31483:9604,LH00995:48:23YTGFLT4:7:1192:21759:15797,LH00995:48:23YTGFLT4:7:1219:37170:29123,LH00995:48:23YTGFLT4:7:1276:25238:14508,LH00995:48:23YTGFLT4:7:1359:31815:6114,LH00995:48:23YTGFLT4:7:2138:48238:12504,LH00995:48:23YTGFLT4:7:2177:3920:27469,LH00995:48:23YTGFLT4:7:2177:3937:27469,LH00995:48:23YTGFLT4:7:2185:13022:22383,LH00995:48:23YTGFLT4:7:2187:48286:21136,LH00995:48:23YTGFLT4:7:2197:17924:24204,LH00995:48:23YTGFLT4:7:2217:31135:26516,LH00995:48:23YTGFLT4:7:2248:20343:22761,LH00995:48:23YTGFLT4:7:2270:49637:28997,LH00995:48:23YTGFLT4:7:2278:16832:8356

STX16

NPEPL1

+/+

chr20:58670603

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1661

607

low

out-of-frame

Syntaxin(73%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%)

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

duplicates(2)

AGGCATGAAGAATCGAGAGGAAAGATCCCAGCATTTTTTCGACACATCAGTACCACTAATGGATGATGGAGACGATAACACTCTTTACCATCGG|GtTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTT

gMKNREERSQHFFDTSVPLMDDGDDNTLYHR|vgyeeetqnnrsg

LH00995:48:23YTGFLT4:3:2294:14106:23560,LH00995:48:23YTGFLT4:6:2355:8969:21836,LH00995:48:23YTGFLT4:7:1222:3831:12182

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

930

419

high

out-of-frame

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(79),low_entropy(1),mismappers(4)

GTCTCGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGG

SRHIAQTGLKVLGSRDPPASAFQSAGITGVSRCPGHPSRKFHQ|esepvmlrnq*

LH00995:48:23YTGFLT4:1:1118:42477:25031,LH00995:48:23YTGFLT4:1:1153:24971:25732,LH00995:48:23YTGFLT4:1:1210:30642:2906,LH00995:48:23YTGFLT4:1:1344:5215:20547,LH00995:48:23YTGFLT4:1:1344:5223:20533,LH00995:48:23YTGFLT4:1:1388:39848:27707,LH00995:48:23YTGFLT4:1:1396:42971:2485,LH00995:48:23YTGFLT4:1:1474:46870:9099,LH00995:48:23YTGFLT4:1:2112:50859:21612,LH00995:48:23YTGFLT4:1:2113:34371:15279,LH00995:48:23YTGFLT4:1:2176:31491:24106,LH00995:48:23YTGFLT4:1:2326:14470:6563,LH00995:48:23YTGFLT4:1:2376:24097:6591,LH00995:48:23YTGFLT4:1:2448:13111:22565,LH00995:48:23YTGFLT4:1:2485:25399:18964,LH00995:48:23YTGFLT4:2:1159:11218:24499,LH00995:48:23YTGFLT4:2:1173:8572:13359,LH00995:48:23YTGFLT4:2:1230:39460:23280,LH00995:48:23YTGFLT4:2:2136:34913:25550,LH00995:48:23YTGFLT4:2:2496:17059:2135,LH00995:48:23YTGFLT4:3:1216:47331:22565,LH00995:48:23YTGFLT4:3:1230:14624:17815,LH00995:48:23YTGFLT4:3:1230:14640:17815,LH00995:48:23YTGFLT4:3:1264:48351:27890,LH00995:48:23YTGFLT4:3:1264:48367:27890,LH00995:48:23YTGFLT4:3:1309:2011:19258,LH00995:48:23YTGFLT4:3:1318:19793:24667,LH00995:48:23YTGFLT4:3:1330:47008:7320,LH00995:48:23YTGFLT4:3:1350:14575:25465,LH00995:48:23YTGFLT4:3:1350:14591:25465,LH00995:48:23YTGFLT4:3:1378:33999:19174,LH00995:48:23YTGFLT4:3:1378:34015:19174,LH00995:48:23YTGFLT4:3:1379:40673:10080,LH00995:48:23YTGFLT4:3:1379:40690:10080,LH00995:48:23YTGFLT4:3:1387:11962:25115,LH00995:48:23YTGFLT4:3:1475:46967:7053,LH00995:48:23YTGFLT4:3:2104:30690:27763,LH00995:48:23YTGFLT4:3:2120:51344:14017,LH00995:48:23YTGFLT4:3:2158:7156:17044,LH00995:48:23YTGFLT4:3:2349:44557:18796,LH00995:48:23YTGFLT4:3:2465:36289:11257,LH00995:48:23YTGFLT4:4:1107:17843:29305,LH00995:48:23YTGFLT4:4:1226:10732:12840,LH00995:48:23YTGFLT4:4:1257:7828:11257,LH00995:48:23YTGFLT4:4:1271:28207:4461,LH00995:48:23YTGFLT4:4:1317:22220:23798,LH00995:48:23YTGFLT4:4:1447:44160:11972,LH00995:48:23YTGFLT4:4:2217:36798:10542,LH00995:48:23YTGFLT4:4:2340:48496:11888,LH00995:48:23YTGFLT4:5:1123:41628:18712,LH00995:48:23YTGFLT4:5:1154:18871:20715,LH00995:48:23YTGFLT4:5:1191:48189:27862,LH00995:48:23YTGFLT4:5:1257:41054:21024,LH00995:48:23YTGFLT4:5:1369:1121:23574,LH00995:48:23YTGFLT4:5:1470:47720:14354,LH00995:48:23YTGFLT4:5:1477:3767:22046,LH00995:48:23YTGFLT4:5:2177:38182:28212,LH00995:48:23YTGFLT4:5:2365:22366:21640,LH00995:48:23YTGFLT4:6:1162:28053:21878,LH00995:48:23YTGFLT4:6:1168:35010:8202,LH00995:48:23YTGFLT4:6:1168:35018:8188,LH00995:48:23YTGFLT4:6:1264:28506:26334,LH00995:48:23YTGFLT4:6:1385:4220:11201,LH00995:48:23YTGFLT4:6:1385:4236:11201,LH00995:48:23YTGFLT4:6:1467:1178:24765,LH00995:48:23YTGFLT4:6:2104:32041:11607,LH00995:48:23YTGFLT4:6:2110:40374:1294,LH00995:48:23YTGFLT4:6:2124:8572:8651,LH00995:48:23YTGFLT4:6:2219:18499:26516,LH00995:48:23YTGFLT4:6:2263:20926:18585,LH00995:48:23YTGFLT4:6:2303:44621:5764,LH00995:48:23YTGFLT4:6:2315:13386:22060,LH00995:48:23YTGFLT4:6:2410:1065:4671,LH00995:48:23YTGFLT4:7:1112:33991:2345,LH00995:48:23YTGFLT4:7:1112:33999:2331,LH00995:48:23YTGFLT4:7:1139:3751:16189,LH00995:48:23YTGFLT4:7:1155:39872:26432,LH00995:48:23YTGFLT4:7:1322:24129:14634,LH00995:48:23YTGFLT4:7:1371:7221:14522,LH00995:48:23YTGFLT4:7:2148:33182:27091,LH00995:48:23YTGFLT4:7:2166:30658:1785,LH00995:48:23YTGFLT4:1:1115:24259:15363,LH00995:48:23YTGFLT4:1:1123:19623:9660,LH00995:48:23YTGFLT4:1:1263:14041:17114,LH00995:48:23YTGFLT4:1:1462:27123:29347,LH00995:48:23YTGFLT4:1:2115:30440:21136,LH00995:48:23YTGFLT4:1:2303:33813:27567,LH00995:48:23YTGFLT4:1:2456:1785:19286,LH00995:48:23YTGFLT4:1:2476:29566:16259,LH00995:48:23YTGFLT4:2:1198:13564:18277,LH00995:48:23YTGFLT4:2:1243:44411:14564,LH00995:48:23YTGFLT4:2:1338:2594:10066,LH00995:48:23YTGFLT4:2:1338:2602:10080,LH00995:48:23YTGFLT4:2:1490:37389:4839,LH00995:48:23YTGFLT4:2:2141:17730:12938,LH00995:48:23YTGFLT4:2:2145:46102:16820,LH00995:48:23YTGFLT4:2:2205:13442:24260,LH00995:48:23YTGFLT4:2:2211:31726:25325,LH00995:48:23YTGFLT4:2:2212:11986:14620,LH00995:48:23YTGFLT4:2:2252:41223:28380,LH00995:48:23YTGFLT4:2:2275:12633:23167,LH00995:48:23YTGFLT4:3:1227:17916:4153,LH00995:48:23YTGFLT4:3:1244:10789:11061,LH00995:48:23YTGFLT4:3:1244:10797:11047,LH00995:48:23YTGFLT4:3:1411:3184:11565,LH00995:48:23YTGFLT4:3:2211:50576:13583,LH00995:48:23YTGFLT4:3:2319:37607:25620,LH00995:48:23YTGFLT4:3:2421:3848:20169,LH00995:48:23YTGFLT4:3:2446:31184:17885,LH00995:48:23YTGFLT4:4:1172:20901:23027,LH00995:48:23YTGFLT4:4:1187:28134:10584,LH00995:48:23YTGFLT4:4:1237:22252:14494,LH00995:48:23YTGFLT4:4:1325:11113:27932,LH00995:48:23YTGFLT4:4:1437:19146:14298,LH00995:48:23YTGFLT4:4:2304:43926:21290,LH00995:48:23YTGFLT4:4:2344:46175:20785,LH00995:48:23YTGFLT4:4:2369:19429:7109,LH00995:48:23YTGFLT4:4:2396:12019:24120,LH00995:48:23YTGFLT4:4:2477:51967:27511,LH00995:48:23YTGFLT4:4:2477:51983:27511,LH00995:48:23YTGFLT4:5:1130:14365:6213,LH00995:48:23YTGFLT4:5:1238:15481:28240,LH00995:48:23YTGFLT4:5:1256:51053:23097,LH00995:48:23YTGFLT4:5:1342:23595:8749,LH00995:48:23YTGFLT4:5:2185:36167:8889,LH00995:48:23YTGFLT4:5:2292:18636:25129,LH00995:48:23YTGFLT4:5:2332:9810:26853,LH00995:48:23YTGFLT4:5:2457:42558:22257,LH00995:48:23YTGFLT4:6:1233:16638:5218,LH00995:48:23YTGFLT4:6:1372:35399:13051,LH00995:48:23YTGFLT4:6:1382:36224:14592,LH00995:48:23YTGFLT4:6:1430:24299:27651,LH00995:48:23YTGFLT4:6:1457:9640:2149,LH00995:48:23YTGFLT4:6:2131:18596:10290,LH00995:48:23YTGFLT4:6:2131:24073:16778,LH00995:48:23YTGFLT4:6:2231:6728:26979,LH00995:48:23YTGFLT4:6:2405:20796:20911,LH00995:48:23YTGFLT4:6:2405:29857:9954,LH00995:48:23YTGFLT4:6:2463:40625:17170,LH00995:48:23YTGFLT4:6:2492:27042:11579,LH00995:48:23YTGFLT4:7:1103:13200:23083,LH00995:48:23YTGFLT4:7:1128:44354:23238,LH00995:48:23YTGFLT4:7:1142:16776:9323,LH00995:48:23YTGFLT4:7:1205:9090:12826,LH00995:48:23YTGFLT4:7:1205:9106:12826,LH00995:48:23YTGFLT4:7:1216:32689:11579,LH00995:48:23YTGFLT4:7:1252:10190:28296,LH00995:48:23YTGFLT4:7:1327:15853:12602,LH00995:48:23YTGFLT4:7:1335:4487:24358,LH00995:48:23YTGFLT4:7:1380:2157:7067,LH00995:48:23YTGFLT4:7:1380:2173:7067,LH00995:48:23YTGFLT4:7:1435:7334:11187,LH00995:48:23YTGFLT4:7:1438:43909:6913,LH00995:48:23YTGFLT4:7:1438:43917:6899,LH00995:48:23YTGFLT4:7:1449:13273:1182,LH00995:48:23YTGFLT4:7:1476:46296:20043,LH00995:48:23YTGFLT4:7:2109:18830:21906,LH00995:48:23YTGFLT4:7:2183:47202:28674,LH00995:48:23YTGFLT4:7:2236:33797:27399,LH00995:48:23YTGFLT4:7:2256:37510:18277,LH00995:48:23YTGFLT4:7:2277:15287:20533,LH00995:48:23YTGFLT4:7:2302:13548:4377

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

874

419

medium

out-of-frame

Eukaryotic_protein_of_unknown_function_(DUF846)(86%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(15)

TCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCC

SSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|esepvmlrnq*

LH00995:48:23YTGFLT4:2:1238:46692:9576,LH00995:48:23YTGFLT4:2:1271:3840:28086,LH00995:48:23YTGFLT4:3:1148:39419:18025,LH00995:48:23YTGFLT4:3:2227:8993:21598,LH00995:48:23YTGFLT4:3:2304:33489:9940,LH00995:48:23YTGFLT4:5:2134:33764:15405,LH00995:48:23YTGFLT4:6:2213:24574:4587,LH00995:48:23YTGFLT4:7:2108:32001:9547,LH00995:48:23YTGFLT4:7:2225:35229:19314,LH00995:48:23YTGFLT4:1:1321:14583:6339,LH00995:48:23YTGFLT4:2:2441:4147:22901,LH00995:48:23YTGFLT4:2:2441:4163:22901,LH00995:48:23YTGFLT4:3:1139:1316:16147,LH00995:48:23YTGFLT4:3:1168:16217:20883,LH00995:48:23YTGFLT4:3:1327:22883:11775,LH00995:48:23YTGFLT4:3:2157:7423:23364,LH00995:48:23YTGFLT4:3:2215:30027:24316,LH00995:48:23YTGFLT4:3:2355:48181:14200,LH00995:48:23YTGFLT4:4:1194:51085:19342,LH00995:48:23YTGFLT4:4:1398:16064:18403,LH00995:48:23YTGFLT4:4:1489:27932:2107,LH00995:48:23YTGFLT4:4:2173:13782:26755,LH00995:48:23YTGFLT4:4:2390:44840:19903,LH00995:48:23YTGFLT4:4:2390:44848:19917,LH00995:48:23YTGFLT4:5:1259:37486:20197,LH00995:48:23YTGFLT4:5:1265:44621:24176,LH00995:48:23YTGFLT4:5:1363:49491:27511,LH00995:48:23YTGFLT4:5:2156:2149:18095,LH00995:48:23YTGFLT4:5:2170:4940:23742,LH00995:48:23YTGFLT4:5:2218:46870:25269,LH00995:48:23YTGFLT4:6:2232:49621:9940,LH00995:48:23YTGFLT4:6:2280:3095:12168,LH00995:48:23YTGFLT4:6:2427:38303:26544,LH00995:48:23YTGFLT4:7:1157:51862:28058,LH00995:48:23YTGFLT4:7:1274:47485:6941,LH00995:48:23YTGFLT4:7:1303:30577:12882,LH00995:48:23YTGFLT4:7:1445:13006:5288,LH00995:48:23YTGFLT4:7:2162:12658:17745

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

419

low

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000581273.5

ENST00000619038.5

upstream

downstream

duplicates(22)

CCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCG

LH00995:48:23YTGFLT4:1:1249:1809:22607,LH00995:48:23YTGFLT4:1:1282:49103:7502,LH00995:48:23YTGFLT4:1:1481:1615:20673,LH00995:48:23YTGFLT4:1:2117:9996:22159,LH00995:48:23YTGFLT4:1:2118:12213:8651,LH00995:48:23YTGFLT4:1:2349:25003:19510,LH00995:48:23YTGFLT4:2:1205:40447:5792,LH00995:48:23YTGFLT4:2:1276:21799:4909,LH00995:48:23YTGFLT4:2:1361:44904:14690,LH00995:48:23YTGFLT4:2:2104:50519:1911,LH00995:48:23YTGFLT4:2:2239:42833:8665,LH00995:48:23YTGFLT4:2:2309:26904:12266,LH00995:48:23YTGFLT4:2:2328:12099:9884,LH00995:48:23YTGFLT4:2:2361:51781:26741,LH00995:48:23YTGFLT4:2:2434:33344:22523,LH00995:48:23YTGFLT4:3:1234:39363:5820,LH00995:48:23YTGFLT4:3:1453:31006:19510,LH00995:48:23YTGFLT4:3:1481:7423:27063,LH00995:48:23YTGFLT4:3:2360:31451:27147,LH00995:48:23YTGFLT4:3:2390:6170:11916,LH00995:48:23YTGFLT4:4:1371:14810:15110,LH00995:48:23YTGFLT4:4:1396:2610:11215,LH00995:48:23YTGFLT4:4:2155:25262:23490,LH00995:48:23YTGFLT4:4:2355:44832:4335,LH00995:48:23YTGFLT4:5:1152:19761:19342,LH00995:48:23YTGFLT4:5:1182:11930:5946,LH00995:48:23YTGFLT4:5:1425:35925:15727,LH00995:48:23YTGFLT4:5:1429:44613:12644,LH00995:48:23YTGFLT4:5:2154:6210:22467,LH00995:48:23YTGFLT4:5:2355:27915:11551,LH00995:48:23YTGFLT4:5:2443:8160:27133,LH00995:48:23YTGFLT4:6:1353:18547:25087,LH00995:48:23YTGFLT4:6:2196:46935:11986,LH00995:48:23YTGFLT4:7:1420:32656:13149

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2199

419

low

out-of-frame

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000428082.6

ENST00000619038.5

upstream

downstream

duplicates(21),low_entropy(2)

TTCTCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCC

FSFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq*

LH00995:48:23YTGFLT4:1:1103:11517:5008,LH00995:48:23YTGFLT4:3:1195:1259:22018,LH00995:48:23YTGFLT4:3:1195:1267:22032,LH00995:48:23YTGFLT4:3:1308:44565:18726,LH00995:48:23YTGFLT4:3:1452:9009:4615,LH00995:48:23YTGFLT4:3:1452:9017:4601,LH00995:48:23YTGFLT4:3:1471:25990:9477,LH00995:48:23YTGFLT4:4:1116:8054:6465,LH00995:48:23YTGFLT4:4:1138:52080:22271,LH00995:48:23YTGFLT4:5:1315:2675:4097,LH00995:48:23YTGFLT4:5:1491:33125:11635,LH00995:48:23YTGFLT4:5:2154:35124:8791,LH00995:48:23YTGFLT4:5:2176:51838:28716,LH00995:48:23YTGFLT4:5:2234:40673:9155,LH00995:48:23YTGFLT4:6:2214:47202:21472,LH00995:48:23YTGFLT4:7:1483:28805:10262,LH00995:48:23YTGFLT4:7:1483:28822:10262,LH00995:48:23YTGFLT4:2:1129:10773:9604,LH00995:48:23YTGFLT4:2:1129:10781:9590,LH00995:48:23YTGFLT4:3:2270:47275:26811,LH00995:48:23YTGFLT4:3:2385:47032:1280,LH00995:48:23YTGFLT4:3:2385:47040:1266,LH00995:48:23YTGFLT4:5:2121:20246:15531,LH00995:48:23YTGFLT4:5:2277:13451:25536,LH00995:48:23YTGFLT4:5:2468:3451:17128,LH00995:48:23YTGFLT4:6:2118:38101:25522,LH00995:48:23YTGFLT4:7:2301:35690:10865,LH00995:48:23YTGFLT4:7:2301:35698:10851,LH00995:48:23YTGFLT4:7:2302:29016:14522

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

2199

733

low

out-of-frame

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000428082.6

ENST00000619038.5

upstream

downstream

duplicates(5)

GCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAG

LQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:48:23YTGFLT4:1:1217:19445:15825,LH00995:48:23YTGFLT4:2:2269:16735:23322,LH00995:48:23YTGFLT4:3:1437:35585:6451,LH00995:48:23YTGFLT4:4:2290:28037:29081,LH00995:48:23YTGFLT4:5:2222:43448:10402,LH00995:48:23YTGFLT4:6:2210:29622:14172,LH00995:48:23YTGFLT4:1:2124:2683:18627,LH00995:48:23YTGFLT4:2:2102:42914:3844,LH00995:48:23YTGFLT4:6:2307:21306:21094,LH00995:48:23YTGFLT4:7:1384:42259:7838

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15438200

CDS/splice-site

deletion/read-through

874

733

low

out-of-frame

Eukaryotic_protein_of_unknown_function_(DUF846)(86%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(2)

CTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCAC

LIACSVLWVIFAFSALFSFTVKWL|dsqktldfpgsylknmtpgrpms

LH00995:48:23YTGFLT4:1:1332:6008:2555,LH00995:48:23YTGFLT4:4:1288:39711:27806,LH00995:48:23YTGFLT4:5:1340:2440:27848,LH00995:48:23YTGFLT4:5:2411:38829:11846,LH00995:48:23YTGFLT4:4:1333:30601:4097

LINC01953(46806),AC079610.2(52477)

IKZF2

./-

-/-

chr2:213214518

chr2:213148644

intergenic

CDS/splice-site

deletion/read-through

225

3085

high

|Zinc_finger__C2H2_type(100%)

ENSG00000030419.16

ENST00000342002.6

upstream

downstream

duplicates(153),mismappers(2),mismatches(1)

CAGGCTCCAAGACTG___AGGGTGTCAGAAGCGGGATCTGAAGTGGAGCTTCTAGCGACCCCAGGAGCCCTGAGTGAATATGCAAGGCACCTGCAGGACCCACTGGTGTCCATTGATCTCTCAGAGCGCTGGAGATCGTGG|CATTGCACTTTGACTATGGAAACAGAGGCTATTGATGGCTATATAACGT___GTGACAATGAGCTTTCACCCGAAAGGGA?CACTCCAATATGGCAATTGACCTCACCTCAAGCACACCCAATGGACAGCATGCCTCACCAAGTCACATGACAAGC

LH00995:48:23YTGFLT4:1:1134:18733:19440,LH00995:48:23YTGFLT4:1:1169:40576:12602,LH00995:48:23YTGFLT4:1:1177:14575:2541,LH00995:48:23YTGFLT4:1:1195:28676:5862,LH00995:48:23YTGFLT4:1:1228:45479:3971,LH00995:48:23YTGFLT4:1:1248:19631:13345,LH00995:48:23YTGFLT4:1:1260:6299:18894,LH00995:48:23YTGFLT4:1:1291:48909:1813,LH00995:48:23YTGFLT4:1:1291:48925:1813,LH00995:48:23YTGFLT4:1:1297:13596:13345,LH00995:48:23YTGFLT4:1:1352:23992:21542,LH00995:48:23YTGFLT4:1:1355:20626:11761,LH00995:48:23YTGFLT4:1:1373:11582:10248,LH00995:48:23YTGFLT4:1:1377:19898:7810,LH00995:48:23YTGFLT4:1:1382:33077:11019,LH00995:48:23YTGFLT4:1:1394:5061:9211,LH00995:48:23YTGFLT4:1:1427:24599:27862,LH00995:48:23YTGFLT4:1:1454:50875:18221,LH00995:48:23YTGFLT4:1:2146:12019:6913,LH00995:48:23YTGFLT4:1:2146:12277:3662,LH00995:48:23YTGFLT4:1:2180:5708:22467,LH00995:48:23YTGFLT4:1:2258:27972:19328,LH00995:48:23YTGFLT4:1:2277:43602:27820,LH00995:48:23YTGFLT4:1:2287:46935:14031,LH00995:48:23YTGFLT4:1:2310:50713:9758,LH00995:48:23YTGFLT4:1:2355:20408:19314,LH00995:48:23YTGFLT4:1:2364:11833:9029,LH00995:48:23YTGFLT4:1:2366:21055:23238,LH00995:48:23YTGFLT4:1:2366:21063:23252,LH00995:48:23YTGFLT4:1:2373:35916:15797,LH00995:48:23YTGFLT4:1:2406:31297:29011,LH00995:48:23YTGFLT4:2:1105:27551:28856,LH00995:48:23YTGFLT4:2:1126:34954:15251,LH00995:48:23YTGFLT4:2:1156:48569:11061,LH00995:48:23YTGFLT4:2:1214:15344:4041,LH00995:48:23YTGFLT4:2:1221:4325:6927,LH00995:48:23YTGFLT4:2:1233:50454:22789,LH00995:48:23YTGFLT4:2:1233:50462:22803,LH00995:48:23YTGFLT4:2:1253:49831:26586,LH00995:48:23YTGFLT4:2:1293:31418:12350,LH00995:48:23YTGFLT4:2:1296:47606:5582,LH00995:48:23YTGFLT4:2:1311:30270:24793,LH00995:48:23YTGFLT4:2:1314:39735:24064,LH00995:48:23YTGFLT4:2:1319:22212:26278,LH00995:48:23YTGFLT4:2:1329:50228:28983,LH00995:48:23YTGFLT4:2:1347:29857:11607,LH00995:48:23YTGFLT4:2:1347:29865:11593,LH00995:48:23YTGFLT4:2:1359:48003:11005,LH00995:48:23YTGFLT4:2:1396:49710:20407,LH00995:48:23YTGFLT4:2:1411:43003:7278,LH00995:48:23YTGFLT4:2:1415:35075:20393,LH00995:48:23YTGFLT4:2:1437:38060:6619,LH00995:48:23YTGFLT4:2:2142:47404:12098,LH00995:48:23YTGFLT4:2:2144:24008:22411,LH00995:48:23YTGFLT4:2:2212:29234:26642,LH00995:48:23YTGFLT4:2:2258:14260:29711,LH00995:48:23YTGFLT4:2:2306:8014:21780,LH00995:48:23YTGFLT4:2:2319:51312:29039,LH00995:48:23YTGFLT4:2:2389:22107:27189,LH00995:48:23YTGFLT4:2:2432:4527:29389,LH00995:48:23YTGFLT4:3:1150:37591:8833,LH00995:48:23YTGFLT4:3:1160:24833:18908,LH00995:48:23YTGFLT4:3:1162:1987:16974,LH00995:48:23YTGFLT4:3:1169:3880:26811,LH00995:48:23YTGFLT4:3:1227:49055:20505,LH00995:48:23YTGFLT4:3:1241:33627:26600,LH00995:48:23YTGFLT4:3:1265:41288:17394,LH00995:48:23YTGFLT4:3:1276:22479:24246,LH00995:48:23YTGFLT4:3:1355:29210:9113,LH00995:48:23YTGFLT4:3:1355:29218:9099,LH00995:48:23YTGFLT4:3:1379:47922:2906,LH00995:48:23YTGFLT4:3:1412:33773:24779,LH00995:48:23YTGFLT4:3:1438:46433:18571,LH00995:48:23YTGFLT4:3:1461:51563:23139,LH00995:48:23YTGFLT4:3:1468:7375:27231,LH00995:48:23YTGFLT4:3:1469:43189:17436,LH00995:48:23YTGFLT4:3:1471:2173:10374,LH00995:48:23YTGFLT4:3:1477:39743:1911,LH00995:48:23YTGFLT4:3:2179:30496:27735,LH00995:48:23YTGFLT4:3:2192:23264:24260,LH00995:48:23YTGFLT4:3:2324:5296:12280,LH00995:48:23YTGFLT4:3:2331:50681:6311,LH00995:48:23YTGFLT4:3:2340:20481:28016,LH00995:48:23YTGFLT4:3:2423:20497:11958,LH00995:48:23YTGFLT4:3:2475:19227:20463,LH00995:48:23YTGFLT4:3:2475:19235:20477,LH00995:48:23YTGFLT4:3:2484:15093:1420,LH00995:48:23YTGFLT4:3:2484:15109:1420,LH00995:48:23YTGFLT4:4:1188:34719:17226,LH00995:48:23YTGFLT4:4:1230:37648:20589,LH00995:48:23YTGFLT4:4:1235:11468:16946,LH00995:48:23YTGFLT4:4:1235:11485:16946,LH00995:48:23YTGFLT4:4:1280:10635:28814,LH00995:48:23YTGFLT4:4:1280:24801:28128,LH00995:48:23YTGFLT4:4:1328:17245:25746,LH00995:48:23YTGFLT4:4:1331:13305:3985,LH00995:48:23YTGFLT4:4:1331:26087:28898,LH00995:48:23YTGFLT4:4:1331:26103:28898,LH00995:48:23YTGFLT4:4:1332:8637:3466,LH00995:48:23YTGFLT4:4:1348:7156:29571,LH00995:48:23YTGFLT4:4:1373:5369:21598,LH00995:48:23YTGFLT4:4:1379:5417:20561,LH00995:48:23YTGFLT4:4:1394:37737:14690,LH00995:48:23YTGFLT4:4:1423:15174:24765,LH00995:48:23YTGFLT4:4:1434:2723:1210,LH00995:48:23YTGFLT4:4:1440:20651:7936,LH00995:48:23YTGFLT4:4:1440:6574:20939,LH00995:48:23YTGFLT4:4:1444:16387:29613,LH00995:48:23YTGFLT4:4:1470:16225:8006,LH00995:48:23YTGFLT4:4:1470:16233:8020,LH00995:48:23YTGFLT4:4:1473:43052:20113,LH00995:48:23YTGFLT4:4:1497:48933:20687,LH00995:48:23YTGFLT4:4:2106:2610:11888,LH00995:48:23YTGFLT4:4:2159:51805:18768,LH00995:48:23YTGFLT4:4:2190:22447:26657,LH00995:48:23YTGFLT4:4:2233:1324:25578,LH00995:48:23YTGFLT4:4:2259:29226:15727,LH00995:48:23YTGFLT4:4:2272:13912:21906,LH00995:48:23YTGFLT4:4:2331:37089:14186,LH00995:48:23YTGFLT4:4:2339:11897:7039,LH00995:48:23YTGFLT4:4:2342:3686:24176,LH00995:48:23YTGFLT4:4:2344:20384:20225,LH00995:48:23YTGFLT4:4:2432:35213:16091,LH00995:48:23YTGFLT4:4:2465:24412:1056,LH00995:48:23YTGFLT4:5:1163:24469:6955,LH00995:48:23YTGFLT4:5:1163:24477:6969,LH00995:48:23YTGFLT4:5:1188:11905:25578,LH00995:48:23YTGFLT4:5:1196:15522:13121,LH00995:48:23YTGFLT4:5:1217:50220:25353,LH00995:48:23YTGFLT4:5:1225:34331:14872,LH00995:48:23YTGFLT4:5:1229:24210:4797,LH00995:48:23YTGFLT4:5:1277:27244:19076,LH00995:48:23YTGFLT4:5:1277:6000:2625,LH00995:48:23YTGFLT4:5:1285:37737:25115,LH00995:48:23YTGFLT4:5:1285:37745:25129,LH00995:48:23YTGFLT4:5:1285:43092:15082,LH00995:48:23YTGFLT4:5:1348:13119:11565,LH00995:48:23YTGFLT4:5:1348:13127:11551,LH00995:48:23YTGFLT4:5:1428:35876:18950,LH00995:48:23YTGFLT4:5:1452:17269:12336,LH00995:48:23YTGFLT4:5:1495:13442:2037,LH00995:48:23YTGFLT4:5:2117:34549:20939,LH00995:48:23YTGFLT4:5:2124:40390:14073,LH00995:48:23YTGFLT4:5:2135:10417:23952,LH00995:48:23YTGFLT4:5:2223:32867:28254,LH00995:48:23YTGFLT4:5:2276:45940:8104,LH00995:48:23YTGFLT4:5:2365:34857:25199,LH00995:48:23YTGFLT4:5:2385:24526:17310,LH00995:48:23YTGFLT4:5:2441:38635:23952,LH00995:48:23YTGFLT4:5:2459:12059:16203,LH00995:48:23YTGFLT4:5:2478:3548:11439,LH00995:48:23YTGFLT4:6:1120:44476:13275,LH00995:48:23YTGFLT4:6:1152:30156:7053,LH00995:48:23YTGFLT4:6:1169:17407:18179,LH00995:48:23YTGFLT4:6:1172:40156:17731,LH00995:48:23YTGFLT4:6:1172:40172:17731,LH00995:48:23YTGFLT4:6:1249:43715:10612,LH00995:48:23YTGFLT4:6:1297:13701:22074,LH00995:48:23YTGFLT4:6:1298:46587:12308,LH00995:48:23YTGFLT4:6:1298:46903:4223,LH00995:48:23YTGFLT4:6:1301:43456:28184,LH00995:48:23YTGFLT4:6:1310:12836:16596,LH00995:48:23YTGFLT4:6:1323:17657:27525,LH00995:48:23YTGFLT4:6:1325:18070:28268,LH00995:48:23YTGFLT4:6:1336:3427:6353,LH00995:48:23YTGFLT4:6:1428:20133:21052,LH00995:48:23YTGFLT4:6:1475:2578:11832,LH00995:48:23YTGFLT4:6:2109:24534:25255,LH00995:48:23YTGFLT4:6:2131:30795:20407,LH00995:48:23YTGFLT4:6:2139:25359:24751,LH00995:48:23YTGFLT4:6:2161:39484:14746,LH00995:48:23YTGFLT4:6:2172:50292:24919,LH00995:48:23YTGFLT4:6:2195:48990:29697,LH00995:48:23YTGFLT4:6:2234:43489:6913,LH00995:48:23YTGFLT4:6:2269:31362:15867,LH00995:48:23YTGFLT4:6:2301:28312:23055,LH00995:48:23YTGFLT4:6:2355:19114:9477,LH00995:48:23YTGFLT4:6:2356:2472:4755,LH00995:48:23YTGFLT4:6:2370:49443:11313,LH00995:48:23YTGFLT4:7:1166:12593:15110,LH00995:48:23YTGFLT4:7:1187:35827:3228,LH00995:48:23YTGFLT4:7:1227:36232:6311,LH00995:48:23YTGFLT4:7:1301:10126:18571,LH00995:48:23YTGFLT4:7:1315:38214:13471,LH00995:48:23YTGFLT4:7:1324:41952:2653,LH00995:48:23YTGFLT4:7:1339:1275:15601,LH00995:48:23YTGFLT4:7:1339:1291:15601,LH00995:48:23YTGFLT4:7:1376:30059:15657,LH00995:48:23YTGFLT4:7:1428:4980:5652,LH00995:48:23YTGFLT4:7:2107:22123:19622,LH00995:48:23YTGFLT4:7:2120:39654:26727,LH00995:48:23YTGFLT4:7:2160:19834:18655,LH00995:48:23YTGFLT4:7:2161:46264:2415,LH00995:48:23YTGFLT4:7:2165:14624:16554,LH00995:48:23YTGFLT4:7:2174:9794:5918,LH00995:48:23YTGFLT4:7:2181:13313:7053,LH00995:48:23YTGFLT4:7:2181:13321:7067,LH00995:48:23YTGFLT4:7:2206:40916:8118,LH00995:48:23YTGFLT4:7:2272:49669:15433,LH00995:48:23YTGFLT4:7:2278:11881:25059,LH00995:48:23YTGFLT4:7:2288:17447:1462,LH00995:48:23YTGFLT4:1:1190:11784:21052,LH00995:48:23YTGFLT4:1:1195:42939:18880,LH00995:48:23YTGFLT4:1:1195:42963:18866,LH00995:48:23YTGFLT4:1:1195:42979:18866,LH00995:48:23YTGFLT4:1:1355:48691:27441,LH00995:48:23YTGFLT4:1:2131:24938:3116,LH00995:48:23YTGFLT4:1:2165:7351:12392,LH00995:48:23YTGFLT4:1:2389:22722:1855,LH00995:48:23YTGFLT4:2:1304:17107:26572,LH00995:48:23YTGFLT4:2:1394:36313:8132,LH00995:48:23YTGFLT4:2:2268:15772:7474,LH00995:48:23YTGFLT4:2:2284:23976:22663,LH00995:48:23YTGFLT4:3:2339:27293:20673,LH00995:48:23YTGFLT4:3:2339:27309:20673,LH00995:48:23YTGFLT4:3:2401:31087:8749,LH00995:48:23YTGFLT4:4:1375:6833:26460,LH00995:48:23YTGFLT4:4:1463:2068:7586,LH00995:48:23YTGFLT4:4:1463:2076:7572,LH00995:48:23YTGFLT4:4:1477:12496:18782,LH00995:48:23YTGFLT4:4:2146:48027:10598,LH00995:48:23YTGFLT4:4:2220:24914:5624,LH00995:48:23YTGFLT4:4:2423:4018:22817,LH00995:48:23YTGFLT4:4:2474:24162:23714,LH00995:48:23YTGFLT4:4:2498:16436:17450,LH00995:48:23YTGFLT4:5:1127:6825:9519,LH00995:48:23YTGFLT4:5:1261:32567:28184,LH00995:48:23YTGFLT4:5:2306:49322:11635,LH00995:48:23YTGFLT4:6:1242:2869:20911,LH00995:48:23YTGFLT4:6:1308:19615:8665,LH00995:48:23YTGFLT4:6:1434:11873:14340,LH00995:48:23YTGFLT4:6:2108:26419:1813,LH00995:48:23YTGFLT4:7:1414:1558:20351,LH00995:48:23YTGFLT4:7:2142:41046:14003

NDUFA9

ACSM4

+/+

chr12:4654922

chr12:7323234

CDS/splice-site

deletion

2051

154

high

in-frame

NAD_dependent_epimerase/dehydratase_family(24%)|AMP-binding_enzyme(24%),AMP-binding_enzyme_C-terminal_domain(100%)

ENSG00000139180.11

ENSG00000215009.5

ENST00000266544.10

ENST00000399422.4

downstream

upstream

duplicates(38),mismatches(2)

ATTCCTGGGGCGATATGTTGTCAACCACCTTG___GACGCATGGGGTCACAGGTAATCATACCCTATCGGTGTGATAAATATGACATCATGCACCTTCGTCCCATGGGTGACCTGGGCCAGCTTCTGTTTCTG|GGAATGATTTGTGCCAATCAGAAAGGCCAAGAAATTAAACCAGGTTCAATGGGGAAAGGAATGCTGCCCTATGATGTCCAG___ATTATAGATGAAAATGGCAATGTTCTACCACCTGGC

FLGRYVVNHLGRMGSQVIIPYRCDKYDIMHLRPMGDLGQLLFL|GMICANQKGQEIKPGSMGKGMLPYDVQIIDENGNVLPP

LH00995:48:23YTGFLT4:1:2313:31321:9912,LH00995:48:23YTGFLT4:1:2313:31329:9898,LH00995:48:23YTGFLT4:1:2447:2044:28226,LH00995:48:23YTGFLT4:2:1439:20934:20421,LH00995:48:23YTGFLT4:2:1450:21055:5134,LH00995:48:23YTGFLT4:2:2156:49346:15012,LH00995:48:23YTGFLT4:4:1188:39104:29221,LH00995:48:23YTGFLT4:4:2183:2917:19594,LH00995:48:23YTGFLT4:5:1366:41296:26264,LH00995:48:23YTGFLT4:5:1439:10449:5512,LH00995:48:23YTGFLT4:5:1478:19923:22088,LH00995:48:23YTGFLT4:6:2215:44176:13149,LH00995:48:23YTGFLT4:6:2369:13499:13793,LH00995:48:23YTGFLT4:6:2398:50592:7558,LH00995:48:23YTGFLT4:7:1271:11590:3816,LH00995:48:23YTGFLT4:1:1140:39808:15082,LH00995:48:23YTGFLT4:1:1308:35949:6493,LH00995:48:23YTGFLT4:1:1419:28619:14200,LH00995:48:23YTGFLT4:1:1427:23951:28562,LH00995:48:23YTGFLT4:1:2227:33676:6619,LH00995:48:23YTGFLT4:1:2265:25464:12406,LH00995:48:23YTGFLT4:1:2296:26742:15293,LH00995:48:23YTGFLT4:1:2325:19486:9954,LH00995:48:23YTGFLT4:1:2389:24954:11972,LH00995:48:23YTGFLT4:1:2438:51174:29361,LH00995:48:23YTGFLT4:2:1117:25294:14578,LH00995:48:23YTGFLT4:2:1129:6412:1378,LH00995:48:23YTGFLT4:2:1227:35552:11579,LH00995:48:23YTGFLT4:2:1373:3589:17086,LH00995:48:23YTGFLT4:2:2192:39905:25283,LH00995:48:23YTGFLT4:2:2356:3031:21696,LH00995:48:23YTGFLT4:3:1206:43966:29627,LH00995:48:23YTGFLT4:3:1297:33044:1462,LH00995:48:23YTGFLT4:3:1435:13459:21906,LH00995:48:23YTGFLT4:3:1470:11250:17773,LH00995:48:23YTGFLT4:3:2217:45487:19819,LH00995:48:23YTGFLT4:3:2354:9632:27581,LH00995:48:23YTGFLT4:3:2410:11452:10921,LH00995:48:23YTGFLT4:3:2436:1154:14802,LH00995:48:23YTGFLT4:4:1105:1631:26110,LH00995:48:23YTGFLT4:4:1252:44913:21178,LH00995:48:23YTGFLT4:4:2279:35876:29571,LH00995:48:23YTGFLT4:4:2404:42138:3340,LH00995:48:23YTGFLT4:4:2407:11274:26110,LH00995:48:23YTGFLT4:5:1103:34307:22621,LH00995:48:23YTGFLT4:5:1325:13952:6058,LH00995:48:23YTGFLT4:5:1325:13960:6044,LH00995:48:23YTGFLT4:5:1417:34177:14101,LH00995:48:23YTGFLT4:5:1429:9276:5750,LH00995:48:23YTGFLT4:5:2136:40245:26012,LH00995:48:23YTGFLT4:5:2174:30731:24358,LH00995:48:23YTGFLT4:5:2310:31960:9982,LH00995:48:23YTGFLT4:5:2318:3176:18473,LH00995:48:23YTGFLT4:5:2441:36313:26488,LH00995:48:23YTGFLT4:5:2450:50559:2794,LH00995:48:23YTGFLT4:5:2496:23976:19384,LH00995:48:23YTGFLT4:6:1170:19081:18557,LH00995:48:23YTGFLT4:6:1245:4657:11565,LH00995:48:23YTGFLT4:6:1262:42599:24344,LH00995:48:23YTGFLT4:6:1358:23879:2429,LH00995:48:23YTGFLT4:6:1495:34994:17226,LH00995:48:23YTGFLT4:6:2281:4268:17535,LH00995:48:23YTGFLT4:6:2289:36135:23630,LH00995:48:23YTGFLT4:7:1285:47704:17044,LH00995:48:23YTGFLT4:7:1331:40414:17815,LH00995:48:23YTGFLT4:7:1354:35836:25493,LH00995:48:23YTGFLT4:7:1361:35196:14073,LH00995:48:23YTGFLT4:7:1361:35196:14101,LH00995:48:23YTGFLT4:7:1361:35205:14087,LH00995:48:23YTGFLT4:7:1463:13823:27441,LH00995:48:23YTGFLT4:7:1474:15077:22971,LH00995:48:23YTGFLT4:7:2207:34840:23322,LH00995:48:23YTGFLT4:7:2252:14802:1224,LH00995:48:23YTGFLT4:7:2284:38635:2149,LH00995:48:23YTGFLT4:7:2301:15748:12224,LH00995:48:23YTGFLT4:1:1217:17479:19510,LH00995:48:23YTGFLT4:2:2326:14769:24036

FSIP1

AC013652.1

-/-

chr15:39600845

chr15:39071608

3'UTR/splice-site

exon/splice-site

deletion

2492

high

FSIP1_family(100%)|

ENSG00000150667.8

ENSG00000259345.7

ENST00000642527.1

ENST00000560484.1

upstream

downstream

duplicates(39)

TGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACC

LH00995:48:23YTGFLT4:1:1334:37243:16890,LH00995:48:23YTGFLT4:1:2260:26645:25578,LH00995:48:23YTGFLT4:2:1285:38416:13261,LH00995:48:23YTGFLT4:2:1383:44540:18880,LH00995:48:23YTGFLT4:2:2341:21678:7418,LH00995:48:23YTGFLT4:3:2337:21759:24625,LH00995:48:23YTGFLT4:5:2268:27212:24204,LH00995:48:23YTGFLT4:5:2268:27220:24190,LH00995:48:23YTGFLT4:6:1316:28312:7278,LH00995:48:23YTGFLT4:1:1329:37049:27455,LH00995:48:23YTGFLT4:1:1336:19567:25003,LH00995:48:23YTGFLT4:1:1424:38400:14382,LH00995:48:23YTGFLT4:1:1426:24712:13989,LH00995:48:23YTGFLT4:1:2145:13588:4027,LH00995:48:23YTGFLT4:1:2151:42032:8567,LH00995:48:23YTGFLT4:1:2155:9600:3144,LH00995:48:23YTGFLT4:1:2202:50276:1771,LH00995:48:23YTGFLT4:1:2210:49370:13233,LH00995:48:23YTGFLT4:1:2248:3192:15923,LH00995:48:23YTGFLT4:1:2318:18046:28730,LH00995:48:23YTGFLT4:1:2421:16703:8637,LH00995:48:23YTGFLT4:2:1233:40512:12686,LH00995:48:23YTGFLT4:2:1233:40528:12686,LH00995:48:23YTGFLT4:2:1298:15246:14746,LH00995:48:23YTGFLT4:2:1365:22932:16091,LH00995:48:23YTGFLT4:2:1440:33352:8300,LH00995:48:23YTGFLT4:2:1495:1097:8903,LH00995:48:23YTGFLT4:2:2103:30933:20421,LH00995:48:23YTGFLT4:2:2191:19874:15447,LH00995:48:23YTGFLT4:2:2288:12553:26558,LH00995:48:23YTGFLT4:3:1159:5805:22971,LH00995:48:23YTGFLT4:3:1205:15683:10542,LH00995:48:23YTGFLT4:3:1205:15691:10528,LH00995:48:23YTGFLT4:3:2163:24032:28534,LH00995:48:23YTGFLT4:3:2190:51053:5778,LH00995:48:23YTGFLT4:3:2277:42113:29081,LH00995:48:23YTGFLT4:3:2336:34080:25592,LH00995:48:23YTGFLT4:3:2404:8880:9519,LH00995:48:23YTGFLT4:4:1107:17083:20253,LH00995:48:23YTGFLT4:4:1107:17099:20253,LH00995:48:23YTGFLT4:4:1116:45422:6451,LH00995:48:23YTGFLT4:4:1159:47671:22173,LH00995:48:23YTGFLT4:4:2209:15805:14396,LH00995:48:23YTGFLT4:4:2297:5490:26909,LH00995:48:23YTGFLT4:4:2323:21282:20379,LH00995:48:23YTGFLT4:4:2371:31540:16764,LH00995:48:23YTGFLT4:4:2403:45074:14144,LH00995:48:23YTGFLT4:4:2403:45082:14158,LH00995:48:23YTGFLT4:4:2410:24008:26194,LH00995:48:23YTGFLT4:5:1106:16533:22719,LH00995:48:23YTGFLT4:5:1122:46943:7992,LH00995:48:23YTGFLT4:5:1294:45236:3578,LH00995:48:23YTGFLT4:5:1365:46733:19258,LH00995:48:23YTGFLT4:5:1365:46765:20183,LH00995:48:23YTGFLT4:5:1426:16638:9646,LH00995:48:23YTGFLT4:5:2186:21969:9043,LH00995:48:23YTGFLT4:5:2203:32155:13821,LH00995:48:23YTGFLT4:5:2318:25691:24933,LH00995:48:23YTGFLT4:5:2356:36046:4279,LH00995:48:23YTGFLT4:5:2454:31548:17506,LH00995:48:23YTGFLT4:6:1109:31726:1084,LH00995:48:23YTGFLT4:6:1494:23563:11719,LH00995:48:23YTGFLT4:6:2314:2804:22901,LH00995:48:23YTGFLT4:7:1313:4204:3606,LH00995:48:23YTGFLT4:7:1428:21718:28590,LH00995:48:23YTGFLT4:7:1428:21727:28604,LH00995:48:23YTGFLT4:7:1428:21735:28590,LH00995:48:23YTGFLT4:7:1428:21743:28604,LH00995:48:23YTGFLT4:7:1433:42995:27693,LH00995:48:23YTGFLT4:7:1480:16177:13359,LH00995:48:23YTGFLT4:7:2144:45964:18319,LH00995:48:23YTGFLT4:7:2174:51118:10795,LH00995:48:23YTGFLT4:7:2178:12933:28254,LH00995:48:23YTGFLT4:7:2216:22681:13555,LH00995:48:23YTGFLT4:7:2255:1105:3480,LH00995:48:23YTGFLT4:7:2285:1930:12056

FSIP1

AC013652.1

-/-

chr15:39617735

chr15:39071608

CDS/splice-site

exon/splice-site

deletion

3758

low

out-of-frame

FSIP1_family(100%)|

ENSG00000150667.8

ENSG00000259345.7

ENST00000350221.4

ENST00000560484.1

upstream

downstream

duplicates(1)

GTGACACAAAAGACTATTTTATGTCGAAGACTCTTGGCATTGGGAGACTGAAAAGGCCCTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG|ACATCTTCTtTAACCAGAAGCACTCCAAGA

DTKDYFMSKTLGIGRLKRPSFLDDPLYGISVSLSSEDQHLKLSSPENTIA|diffnqkhsk

LH00995:48:23YTGFLT4:1:2250:22317:6255,LH00995:48:23YTGFLT4:7:1342:19898:6016

ELAPOR1

VAV3

+/+

-/-

chr1:109173579

chr1:107779492

CDS/splice-site

inversion

1488

616

high

out-of-frame

|PH_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),RhoGEF_domain(100%),SH2_domain(100%),Variant_SH3_domain(100%)

ENSG00000116299.17

ENSG00000134215.16

ENST00000369939.8

ENST00000370056.9

downstream

duplicates(26)

AGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGT___GTGGAGCTAAATCGAGGCAATAATGTCCTCTATTGGAGAACCACAGCCTTCTCAGTATGGACCAAAGTACCCAAGCCTGTGCTGGTGAGAAACATTGCCATAACAG|GTTATAGAAACATTATCACGACTTTCTCGAACACCTATAGCATTGGCCACAGGAATCAG___GCCCTTCCCAACAGAAGAAAGCATTAATGATGAAGACATCTACAAAGGCCTTCCTGATTTAATAGA___TGAAACCCTTGTGGAAGATGAAGAAGATCTCTATGACTGTGTTTATGGGGAAGATGAAGGTGGAGAAGTCTATG

RWMKTTEKGWEFHSVELNRGNNVLYWRTTAFSVWTKVPKPVLVRNIAIT|gyrniittfsntysighrnqalpnrrkh*

LH00995:48:23YTGFLT4:1:1274:31588:13065,LH00995:48:23YTGFLT4:1:2109:11396:16287,LH00995:48:23YTGFLT4:1:2228:28959:14480,LH00995:48:23YTGFLT4:1:2475:38004:11761,LH00995:48:23YTGFLT4:2:1268:4309:20491,LH00995:48:23YTGFLT4:2:1346:18353:9169,LH00995:48:23YTGFLT4:2:1380:36790:9491,LH00995:48:23YTGFLT4:2:1498:45366:3102,LH00995:48:23YTGFLT4:2:2489:22261:3859,LH00995:48:23YTGFLT4:3:1137:34193:6983,LH00995:48:23YTGFLT4:3:2306:13086:7193,LH00995:48:23YTGFLT4:4:1187:22536:10136,LH00995:48:23YTGFLT4:4:1243:5668:27413,LH00995:48:23YTGFLT4:4:1350:13046:2948,LH00995:48:23YTGFLT4:4:2273:49265:8427,LH00995:48:23YTGFLT4:6:1334:18588:6577,LH00995:48:23YTGFLT4:6:2172:20602:12364,LH00995:48:23YTGFLT4:1:1318:29177:18894,LH00995:48:23YTGFLT4:1:1401:23911:6801,LH00995:48:23YTGFLT4:1:2125:33530:22201,LH00995:48:23YTGFLT4:1:2289:37510:26572,LH00995:48:23YTGFLT4:2:1334:43052:14872,LH00995:48:23YTGFLT4:2:2270:40981:21458,LH00995:48:23YTGFLT4:2:2438:30245:22004,LH00995:48:23YTGFLT4:3:1474:17560:9057,LH00995:48:23YTGFLT4:3:1474:17576:9057,LH00995:48:23YTGFLT4:3:2152:29655:14984,LH00995:48:23YTGFLT4:3:2243:24348:25157,LH00995:48:23YTGFLT4:3:2272:29469:7151,LH00995:48:23YTGFLT4:3:2308:8944:1252,LH00995:48:23YTGFLT4:3:2319:12908:13443,LH00995:48:23YTGFLT4:3:2407:18911:20701,LH00995:48:23YTGFLT4:3:2478:6137:6647,LH00995:48:23YTGFLT4:4:1192:14535:4853,LH00995:48:23YTGFLT4:4:1453:23304:10767,LH00995:48:23YTGFLT4:4:2123:37632:13247,LH00995:48:23YTGFLT4:4:2161:33012:11439,LH00995:48:23YTGFLT4:4:2430:30496:3494,LH00995:48:23YTGFLT4:5:1171:10732:2275,LH00995:48:23YTGFLT4:5:1234:29153:15825,LH00995:48:23YTGFLT4:5:1294:29760:14634,LH00995:48:23YTGFLT4:5:1294:29776:14634,LH00995:48:23YTGFLT4:5:2145:49411:13163,LH00995:48:23YTGFLT4:5:2233:29865:19020,LH00995:48:23YTGFLT4:5:2352:37033:8118,LH00995:48:23YTGFLT4:6:1177:30116:21920,LH00995:48:23YTGFLT4:6:1272:22649:24625,LH00995:48:23YTGFLT4:6:1282:19372:16063,LH00995:48:23YTGFLT4:6:1445:29906:27413,LH00995:48:23YTGFLT4:6:2107:44055:15769,LH00995:48:23YTGFLT4:6:2123:44500:18894,LH00995:48:23YTGFLT4:6:2425:21387:1897,LH00995:48:23YTGFLT4:7:1194:9406:27161,LH00995:48:23YTGFLT4:7:1290:5911:24078,LH00995:48:23YTGFLT4:7:1394:29307:2191,LH00995:48:23YTGFLT4:7:1418:41110:14844,LH00995:48:23YTGFLT4:7:1439:24704:5820,LH00995:48:23YTGFLT4:7:1439:27859:9968,LH00995:48:23YTGFLT4:7:2174:32365:7432,LH00995:48:23YTGFLT4:7:2264:7124:7908,LH00995:48:23YTGFLT4:4:2270:4535:20996,LH00995:48:23YTGFLT4:5:1101:11072:5554

ELAPOR1

VAV3

+/+

-/-

chr1:109173837

chr1:107779492

CDS/splice-site

inversion

1271

616

high

out-of-frame

|PH_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),RhoGEF_domain(100%),SH2_domain(100%),Variant_SH3_domain(100%)

ENSG00000116299.17

ENSG00000134215.16

ENST00000369939.8

ENST00000370056.9

downstream

duplicates(38)

CCTGCAAACCTGGCACGTATGCAGACAAGCAGGGCTCCTCTTTCTGCAAACTTTGCCCAGCCAACTCTTATTCAAATAAAGGAGAAACTTCTTGCCACCAGTGTGACCCTGACAAATACTCAG|GTTATAGAAACATTATCACGACTTTCTCGAACACCTATAGCATTGGCCACAGGAATCAG___GCCCTTCCCAACAGAAGAAAGCATTAATGATGAAGACATCTACAAAGGCCTTCCTGATTT

CKPGTYADKQGSSFCKLCPANSYSNKGETSCHQCDPDKYS|gyrniittfsntysighrnqalpnrrkh*

LH00995:48:23YTGFLT4:1:1220:25399:20673,LH00995:48:23YTGFLT4:1:1220:25416:20673,LH00995:48:23YTGFLT4:1:2151:49961:9015,LH00995:48:23YTGFLT4:2:1415:13353:11103,LH00995:48:23YTGFLT4:2:1415:13362:11117,LH00995:48:23YTGFLT4:2:1443:13022:16357,LH00995:48:23YTGFLT4:2:1479:40196:4601,LH00995:48:23YTGFLT4:2:2345:32276:17506,LH00995:48:23YTGFLT4:2:2365:42008:6002,LH00995:48:23YTGFLT4:2:2365:43853:4293,LH00995:48:23YTGFLT4:2:2480:25319:16554,LH00995:48:23YTGFLT4:3:1270:43246:27567,LH00995:48:23YTGFLT4:3:2226:39080:26685,LH00995:48:23YTGFLT4:4:2147:45002:6703,LH00995:48:23YTGFLT4:4:2298:6979:1715,LH00995:48:23YTGFLT4:5:1117:8354:3284,LH00995:48:23YTGFLT4:5:1159:17908:12910,LH00995:48:23YTGFLT4:5:1159:17916:12924,LH00995:48:23YTGFLT4:5:1208:25132:11551,LH00995:48:23YTGFLT4:5:1220:43521:17871,LH00995:48:23YTGFLT4:5:1220:43529:17885,LH00995:48:23YTGFLT4:5:1388:47509:2079,LH00995:48:23YTGFLT4:5:1403:35779:7712,LH00995:48:23YTGFLT4:6:1348:41660:8595,LH00995:48:23YTGFLT4:6:1393:48480:18053,LH00995:48:23YTGFLT4:6:2191:46490:1546,LH00995:48:23YTGFLT4:7:1146:7674:15671,LH00995:48:23YTGFLT4:7:1146:7690:15671,LH00995:48:23YTGFLT4:7:1256:9486:23238,LH00995:48:23YTGFLT4:7:1371:4365:8847,LH00995:48:23YTGFLT4:7:1394:23692:10739,LH00995:48:23YTGFLT4:1:1284:16258:3466,LH00995:48:23YTGFLT4:1:1344:21249:18417,LH00995:48:23YTGFLT4:1:1440:6372:28548,LH00995:48:23YTGFLT4:1:2255:30973:27329,LH00995:48:23YTGFLT4:1:2255:30982:27315,LH00995:48:23YTGFLT4:1:2320:22236:11523,LH00995:48:23YTGFLT4:1:2328:13459:26671,LH00995:48:23YTGFLT4:1:2344:33991:8903,LH00995:48:23YTGFLT4:1:2380:21201:20659,LH00995:48:23YTGFLT4:1:2467:27940:14872,LH00995:48:23YTGFLT4:1:2478:35997:2121,LH00995:48:23YTGFLT4:2:1240:32268:10066,LH00995:48:23YTGFLT4:2:1292:29501:3172,LH00995:48:23YTGFLT4:2:2139:25060:10781,LH00995:48:23YTGFLT4:3:1279:46255:13359,LH00995:48:23YTGFLT4:3:2272:24833:3802,LH00995:48:23YTGFLT4:3:2383:23191:9730,LH00995:48:23YTGFLT4:3:2383:23207:9730,LH00995:48:23YTGFLT4:3:2430:4341:19538,LH00995:48:23YTGFLT4:4:1142:40576:24989,LH00995:48:23YTGFLT4:4:1393:47558:18810,LH00995:48:23YTGFLT4:4:1463:1405:26334,LH00995:48:23YTGFLT4:4:2148:1453:7502,LH00995:48:23YTGFLT4:5:1275:18070:14284,LH00995:48:23YTGFLT4:5:1467:46126:23896,LH00995:48:23YTGFLT4:5:2141:27826:15769,LH00995:48:23YTGFLT4:5:2196:7027:26713,LH00995:48:23YTGFLT4:5:2250:12771:3256,LH00995:48:23YTGFLT4:5:2253:46587:23350,LH00995:48:23YTGFLT4:5:2279:38343:10332,LH00995:48:23YTGFLT4:5:2379:26653:26544,LH00995:48:23YTGFLT4:5:2379:26661:26558,LH00995:48:23YTGFLT4:5:2389:15926:16988,LH00995:48:23YTGFLT4:6:1360:18903:28254,LH00995:48:23YTGFLT4:6:2225:24234:16245,LH00995:48:23YTGFLT4:7:1122:14049:9842,LH00995:48:23YTGFLT4:7:1446:14486:18389,LH00995:48:23YTGFLT4:7:2104:6145:9491,LH00995:48:23YTGFLT4:7:2282:21055:5330,LH00995:48:23YTGFLT4:4:2270:4535:20996,LH00995:48:23YTGFLT4:5:1101:11072:5554

ELAPOR1

VAV3

+/+

-/-

chr1:109173557

chr1:107779492

CDS/splice-site

inversion

2147

616

high

in-frame

|PH_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),RhoGEF_domain(100%),SH2_domain(100%),Variant_SH3_domain(100%)

ENSG00000116299.17

ENSG00000134215.16

ENST00000529753.5

ENST00000370056.9

downstream

duplicates(22)

TCCAGACTCCAGCATCATCTTTGAGTTTTTC___GTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGT___GTGGAGCTAAATCGAGGCAATAATGTCCTCTATTGGAGAACCACAGCCTTCTCAGTATGGACCAAAGTACCCAAGCCTGTGCTG|GTTATAGAAACATTATCACGACTTTCTCGAACACCTATAGCATTGGCCACAGGAATCAGG...___GCCCTTCCCAACAGAAGAAAGC

PDSSIIFEFFVQNDQCQPNADDSRWMKTTEKGWEFHSVELNRGNNVLYWRTTAFSVWTKVPKPVL|VIETLSRLSRTPIALATGI

LH00995:48:23YTGFLT4:3:2468:4139:7558,LH00995:48:23YTGFLT4:4:2423:51263:27525,LH00995:48:23YTGFLT4:5:1374:6420:21290,LH00995:48:23YTGFLT4:5:1374:6428:21276,LH00995:48:23YTGFLT4:5:2401:38044:12924,LH00995:48:23YTGFLT4:6:2397:43909:27343,LH00995:48:23YTGFLT4:1:1112:1947:25339,LH00995:48:23YTGFLT4:1:1143:20723:26895,LH00995:48:23YTGFLT4:1:1443:1825:14620,LH00995:48:23YTGFLT4:1:1477:45633:15531,LH00995:48:23YTGFLT4:1:2119:43909:2177,LH00995:48:23YTGFLT4:1:2166:49807:19006,LH00995:48:23YTGFLT4:1:2264:11816:15643,LH00995:48:23YTGFLT4:1:2309:37850:16428,LH00995:48:23YTGFLT4:1:2406:15958:1350,LH00995:48:23YTGFLT4:1:2496:29946:26306,LH00995:48:23YTGFLT4:2:1139:26492:23266,LH00995:48:23YTGFLT4:2:1187:37583:28997,LH00995:48:23YTGFLT4:2:1368:27899:26853,LH00995:48:23YTGFLT4:2:1403:7173:4349,LH00995:48:23YTGFLT4:2:1407:1938:6689,LH00995:48:23YTGFLT4:2:1407:1947:6703,LH00995:48:23YTGFLT4:3:2263:47461:4433,LH00995:48:23YTGFLT4:4:1396:8491:19945,LH00995:48:23YTGFLT4:4:2267:4786:7137,LH00995:48:23YTGFLT4:5:1115:12674:2836,LH00995:48:23YTGFLT4:5:2124:3136:4839,LH00995:48:23YTGFLT4:5:2182:47380:23602,LH00995:48:23YTGFLT4:5:2339:12091:11523,LH00995:48:23YTGFLT4:5:2354:48051:20757,LH00995:48:23YTGFLT4:5:2405:51716:5050,LH00995:48:23YTGFLT4:6:1174:42639:24751,LH00995:48:23YTGFLT4:6:1174:42647:24737,LH00995:48:23YTGFLT4:6:1177:5741:19188,LH00995:48:23YTGFLT4:6:1194:22770:17044,LH00995:48:23YTGFLT4:6:2277:16816:3284,LH00995:48:23YTGFLT4:4:2270:4535:20996,LH00995:48:23YTGFLT4:5:1101:11072:5554

ELAPOR1

VAV3

+/+

-/-

chr1:109172568

chr1:107779492

CDS/splice-site

inversion

2881

616

medium

in-frame

|PH_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),RhoGEF_domain(100%),SH2_domain(100%),Variant_SH3_domain(100%)

ENSG00000116299.17

ENSG00000134215.16

ENST00000369939.8

ENST00000370056.9

downstream

duplicates(7),mismatches(1)

AGCAATCTGGCACCGTTAACTTCGAATACTACTATCCAGACTCCAGCATCATCTTTGAGTTTTTC___GTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGT|GTTATAGAAACATTATCACGACTTTCTCGAACACCTATAGCATTGGCCACAGGAATCAG___GCCCTTCCCAACAGAAGAAAGCATTAATGATGAAGACATCTACAAAGGCCTTCCTGATTTAATAGA___TGAAACCCTTGTGGAAGATGAAGAAGATCTCTATGACTGTGTTTATGGGGAAGATGAAGGTGGAGA

QSGTVNFEYYYPDSSIIFEFFVQNDQCQPNADDSRWMKTTEKGWEFHS|VIETLSRLSRTPIALATGIRPFPTEESINDEDIYKGLPDLIDETLVEDEEDLYDCVYGEDEGG

LH00995:48:23YTGFLT4:1:2113:41474:11579,LH00995:48:23YTGFLT4:1:2230:46377:23966,LH00995:48:23YTGFLT4:2:1460:50665:20883,LH00995:48:23YTGFLT4:2:1460:50673:20869,LH00995:48:23YTGFLT4:3:1282:23191:11047,LH00995:48:23YTGFLT4:4:1144:7885:16764,LH00995:48:23YTGFLT4:4:1268:15376:16568,LH00995:48:23YTGFLT4:4:2366:21945:15951,LH00995:48:23YTGFLT4:5:2242:40989:3844,LH00995:48:23YTGFLT4:6:2220:10668:22873,LH00995:48:23YTGFLT4:6:2434:23531:29067,LH00995:48:23YTGFLT4:7:1375:45301:3887,LH00995:48:23YTGFLT4:7:2244:44249:27792,LH00995:48:23YTGFLT4:7:2244:44257:27806,LH00995:48:23YTGFLT4:2:1156:8653:23280,LH00995:48:23YTGFLT4:2:1353:6979:1434,LH00995:48:23YTGFLT4:3:2248:19461:12042,LH00995:48:23YTGFLT4:4:1326:22964:1378,LH00995:48:23YTGFLT4:4:2106:5029:28324,LH00995:48:23YTGFLT4:6:2134:10716:11747,LH00995:48:23YTGFLT4:6:2465:17487:11453

VAV3

ELAPOR1

-/-

+/+

chr1:107704550

chr1:109171866

CDS/splice-site

inversion

1303

2867

low

out-of-frame

CAMSAP_CH_domain(100%),PH_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),RhoGEF_domain(100%)|

ENSG00000134215.16

ENSG00000116299.17

ENST00000370056.9

ENST00000369939.8

upstream

duplicates(1)

CGAGAGCACACAAAGAATGTTTGGGAAGAGTAGACAATTGTGGCAGAGTTAATTCTGGTG|GTCCAAGTGGGTTCCCCGGGGCGACTACATCGCCTCCAACACGGACGAATGCACAGCCACACTGATGTACGCCGTCAACCTGAAGCAATCTGGCACC

RAHKECLGRVDNCGRVNSG|gpsgfpgattspptrtnaqph*

LH00995:48:23YTGFLT4:3:1491:24210:7404,LH00995:48:23YTGFLT4:6:2466:28223:6899

WAC

ZRANB1

+/+

chr10:28535757

chr10:124962287

CDS/splice-site

intron

deletion

2731

high

out-of-frame

|Ankyrin_ubiquitin-binding_domain(72%),OTU-like_cysteine_protease(100%)

ENSG00000095787.24

ENSG00000019995.6

ENST00000680735.1

downstream

upstream

duplicates(31),mismappers(1)

GAGACGCCGGAGATCCTTCACCACCAAATAAAATGTTGCGGAGATCTGATAGTCCTGAAAACAAATACAGTGACAGCACAGGTCACAGTAAGGCCAAAAATGTGCATACTCACAGAGTTAGAGAGAGGGATGGTG|GGTTCCTGAAATTGTGCCAGCCGACTCCAGGTCCACCCTGACCCCACAGCATAAACCATGCTGTGATGTCACAGCTACCATAGAAC

ETPEILHHQIKCCGDLIVLKTNTVTAQVTVRPKMCILTELERGMV|gs*

LH00995:48:23YTGFLT4:1:1377:49144:23153,LH00995:48:23YTGFLT4:1:1390:21015:21542,LH00995:48:23YTGFLT4:1:1452:14340:22117,LH00995:48:23YTGFLT4:1:1452:14348:22103,LH00995:48:23YTGFLT4:1:2190:48982:22593,LH00995:48:23YTGFLT4:1:2261:14276:2359,LH00995:48:23YTGFLT4:1:2336:32737:19650,LH00995:48:23YTGFLT4:1:2361:28239:4937,LH00995:48:23YTGFLT4:1:2420:6194:1981,LH00995:48:23YTGFLT4:2:1179:31588:4489,LH00995:48:23YTGFLT4:2:1198:26977:8945,LH00995:48:23YTGFLT4:2:1198:35018:16428,LH00995:48:23YTGFLT4:2:1311:35358:23153,LH00995:48:23YTGFLT4:2:1318:36062:26923,LH00995:48:23YTGFLT4:2:1318:36078:26923,LH00995:48:23YTGFLT4:2:1355:16072:16736,LH00995:48:23YTGFLT4:2:1358:45552:17100,LH00995:48:23YTGFLT4:2:1368:17358:4083,LH00995:48:23YTGFLT4:2:1456:50244:12252,LH00995:48:23YTGFLT4:2:1467:4802:23392,LH00995:48:23YTGFLT4:2:2149:40770:10668,LH00995:48:23YTGFLT4:2:2301:27721:19230,LH00995:48:23YTGFLT4:2:2358:29129:10430,LH00995:48:23YTGFLT4:2:2374:2400:28870,LH00995:48:23YTGFLT4:2:2406:32850:3704,LH00995:48:23YTGFLT4:3:1314:50292:28254,LH00995:48:23YTGFLT4:3:1364:11889:10080,LH00995:48:23YTGFLT4:3:1387:28166:16498,LH00995:48:23YTGFLT4:3:2303:50454:5526,LH00995:48:23YTGFLT4:3:2380:44637:22327,LH00995:48:23YTGFLT4:4:1260:32041:19959,LH00995:48:23YTGFLT4:4:1290:40779:18137,LH00995:48:23YTGFLT4:4:1346:12099:25634,LH00995:48:23YTGFLT4:4:1354:29671:13247,LH00995:48:23YTGFLT4:4:1494:35916:17310,LH00995:48:23YTGFLT4:4:2298:12205:16792,LH00995:48:23YTGFLT4:4:2342:33117:17983,LH00995:48:23YTGFLT4:4:2409:41215:20239,LH00995:48:23YTGFLT4:4:2431:51142:5148,LH00995:48:23YTGFLT4:5:1120:26661:19356,LH00995:48:23YTGFLT4:5:1303:36127:22747,LH00995:48:23YTGFLT4:5:1330:30666:19482,LH00995:48:23YTGFLT4:5:1358:17229:13835,LH00995:48:23YTGFLT4:5:1381:7334:14270,LH00995:48:23YTGFLT4:5:2108:28215:15208,LH00995:48:23YTGFLT4:5:2154:32333:11159,LH00995:48:23YTGFLT4:5:2287:31499:14424,LH00995:48:23YTGFLT4:5:2379:6817:17212,LH00995:48:23YTGFLT4:5:2476:16120:13569,LH00995:48:23YTGFLT4:6:1167:8524:22131,LH00995:48:23YTGFLT4:6:1254:14640:9912,LH00995:48:23YTGFLT4:6:1335:45050:25507,LH00995:48:23YTGFLT4:6:1490:28546:26628,LH00995:48:23YTGFLT4:6:2169:23086:21766,LH00995:48:23YTGFLT4:6:2249:3929:13135,LH00995:48:23YTGFLT4:6:2306:31232:23350,LH00995:48:23YTGFLT4:6:2412:4115:21444,LH00995:48:23YTGFLT4:7:1264:38085:22215,LH00995:48:23YTGFLT4:7:1317:42089:23181,LH00995:48:23YTGFLT4:7:1374:30941:15110,LH00995:48:23YTGFLT4:7:2117:15125:27735,LH00995:48:23YTGFLT4:7:2131:36725:16694,LH00995:48:23YTGFLT4:4:1382:33053:28184,LH00995:48:23YTGFLT4:3:2397:26144:27932,LH00995:48:23YTGFLT4:5:1240:23231:13079

DDHD2

ADAM32

+/+

chr8:38260147

chr8:39221610

3'UTR/splice-site

CDS/splice-site

deletion

1056

650

high

stop-codon

DDHD_domain(100%),SAM_domain_(Sterile_alpha_motif)(100%),WWE_domain(100%)|ADAM_cysteine-rich(100%),Disintegrin(84%),Reprolysin_(M12B)_family_zinc_metalloprotease_(0%)

ENSG00000085788.14

ENSG00000197140.15

ENST00000397166.7

ENST00000437682.6

downstream

upstream

duplicates(23),mismappers(1)

CCATCTATGCTACTG___GGAGTCTGAAGATACAGTATTGCTCGTCCTCAAAGAGATCTACCAAACCCAGGGTATCTTCCTTGATCAGCCTTTACAGTAAAAATGACCCATCTATGGCTGCTTAAT|CAATGTGGACCTGCAAGCTGTTGTGATTTTCGAACTTGTGTACTGAAAGACGGAGCAAAATGTTATAAAGGACTGTGCTGCAAAGACTGTCAA___ATTTTACAATCAGGCGTTGAATGTAGG

LH00995:48:23YTGFLT4:1:1115:50195:10767,LH00995:48:23YTGFLT4:1:1150:33360:5932,LH00995:48:23YTGFLT4:1:1471:46094:25998,LH00995:48:23YTGFLT4:1:2141:14179:18950,LH00995:48:23YTGFLT4:1:2154:22592:20911,LH00995:48:23YTGFLT4:1:2471:17803:21556,LH00995:48:23YTGFLT4:2:1335:50915:2850,LH00995:48:23YTGFLT4:2:1348:18248:13639,LH00995:48:23YTGFLT4:2:2362:45244:5470,LH00995:48:23YTGFLT4:3:1107:21710:6269,LH00995:48:23YTGFLT4:3:1132:1283:5806,LH00995:48:23YTGFLT4:3:1212:5967:11874,LH00995:48:23YTGFLT4:3:2463:21015:15208,LH00995:48:23YTGFLT4:4:1418:42947:16960,LH00995:48:23YTGFLT4:6:1255:29800:12294,LH00995:48:23YTGFLT4:6:1258:38861:28800,LH00995:48:23YTGFLT4:6:1487:33764:13275,LH00995:48:23YTGFLT4:6:2225:24574:10528,LH00995:48:23YTGFLT4:6:2371:13418:6955,LH00995:48:23YTGFLT4:7:1165:12633:4895,LH00995:48:23YTGFLT4:7:1378:12035:28128,LH00995:48:23YTGFLT4:7:2114:41312:20211,LH00995:48:23YTGFLT4:1:1307:3945:23896,LH00995:48:23YTGFLT4:2:1238:4810:25676,LH00995:48:23YTGFLT4:2:1247:39169:21346,LH00995:48:23YTGFLT4:2:1256:16144:26839,LH00995:48:23YTGFLT4:2:2292:9219:11537,LH00995:48:23YTGFLT4:2:2465:26419:21990,LH00995:48:23YTGFLT4:3:1193:40795:23490,LH00995:48:23YTGFLT4:3:2396:50406:15951,LH00995:48:23YTGFLT4:3:2463:35738:15208,LH00995:48:23YTGFLT4:3:2463:35747:15222,LH00995:48:23YTGFLT4:4:1331:23603:17282,LH00995:48:23YTGFLT4:4:1339:29986:9842,LH00995:48:23YTGFLT4:4:1453:38538:18487,LH00995:48:23YTGFLT4:4:2125:3443:26614,LH00995:48:23YTGFLT4:5:1140:29121:2625,LH00995:48:23YTGFLT4:5:1325:7116:7362,LH00995:48:23YTGFLT4:5:1392:3670:29025,LH00995:48:23YTGFLT4:6:1338:36968:25493,LH00995:48:23YTGFLT4:6:1378:33481:17773,LH00995:48:23YTGFLT4:6:1428:29088:12210,LH00995:48:23YTGFLT4:6:2170:43392:22803,LH00995:48:23YTGFLT4:6:2302:18434:15923,LH00995:48:23YTGFLT4:7:1298:30520:10346,LH00995:48:23YTGFLT4:7:1447:17018:20645,LH00995:48:23YTGFLT4:7:1474:22147:20673,LH00995:48:23YTGFLT4:7:2133:10579:23784,LH00995:48:23YTGFLT4:7:2134:10554:13149,LH00995:48:23YTGFLT4:7:2196:33522:17450

DDHD2

ADAM32

+/+

chr8:38260147

chr8:39211144

3'UTR/splice-site

CDS/splice-site

deletion

1056

101

high

stop-codon

DDHD_domain(100%),SAM_domain_(Sterile_alpha_motif)(100%),WWE_domain(100%)|ADAM_cysteine-rich(100%),Disintegrin(95%),Reprolysin_(M12B)_family_zinc_metalloprotease_(14%)

ENSG00000085788.14

ENSG00000197140.15

ENST00000397166.7

ENST00000379907.9

downstream

upstream

duplicates(17)

TGCTTTACAAAGCCATCTATGCTACTG___GGAGTCTGAAGATACAGTATTGCTCGTCCTCAAAGAGATCTACCAAACCCAGGGTATCTTCCTTGATCAGCCTTTACAGTAAAAATGACCCATCTATGGCTGCTTAAT|GCAATCCAATGGTGTGAAGACTTTTAGCAGTTGCAGTTTGAGGAGCTTTCAAAATTTCATTTCAAATGTGGGTGTCAAATGTCTTCAGAATAAGCCACAAATGCAAAAAAAATCTCCGAAACCAGTCTGTGGCAATGGCAGATTGGAGGGAAATGAAAT

LH00995:48:23YTGFLT4:1:1222:10417:3018,LH00995:48:23YTGFLT4:1:2397:23288:16932,LH00995:48:23YTGFLT4:2:2201:33934:16624,LH00995:48:23YTGFLT4:2:2201:33942:16638,LH00995:48:23YTGFLT4:3:1217:35156:17310,LH00995:48:23YTGFLT4:3:2130:51878:6815,LH00995:48:23YTGFLT4:3:2138:47752:5442,LH00995:48:23YTGFLT4:4:1147:45875:24078,LH00995:48:23YTGFLT4:4:1194:33457:14788,LH00995:48:23YTGFLT4:4:1194:33465:14774,LH00995:48:23YTGFLT4:4:1371:27066:22439,LH00995:48:23YTGFLT4:4:1457:17318:27665,LH00995:48:23YTGFLT4:4:2269:19914:17619,LH00995:48:23YTGFLT4:5:1441:25197:9646,LH00995:48:23YTGFLT4:6:1231:6768:11860,LH00995:48:23YTGFLT4:6:1258:7173:26628,LH00995:48:23YTGFLT4:6:1329:10716:26909,LH00995:48:23YTGFLT4:7:1410:22471:20337,LH00995:48:23YTGFLT4:7:1432:31823:16974,LH00995:48:23YTGFLT4:7:2150:23175:22117,LH00995:48:23YTGFLT4:1:1147:50317:7530,LH00995:48:23YTGFLT4:2:1195:24057:11565,LH00995:48:23YTGFLT4:3:1310:3945:20589,LH00995:48:23YTGFLT4:3:2388:22358:3298,LH00995:48:23YTGFLT4:5:1214:19607:15601,LH00995:48:23YTGFLT4:5:1462:10376:28814,LH00995:48:23YTGFLT4:5:1488:25302:11846,LH00995:48:23YTGFLT4:5:1488:25310:11832,LH00995:48:23YTGFLT4:5:2206:37049:21598,LH00995:48:23YTGFLT4:5:2206:37057:21584,LH00995:48:23YTGFLT4:6:2232:47073:3340,LH00995:48:23YTGFLT4:6:2263:12326:19160,LH00995:48:23YTGFLT4:6:2362:32705:6815,LH00995:48:23YTGFLT4:7:2110:40722:6801

DDHD2

ADAM32

+/+

chr8:38261599

chr8:39221610

3'UTR/splice-site

CDS/splice-site

deletion

650

high

DDHD_domain(100%),SAM_domain_(Sterile_alpha_motif)(100%),WWE_domain(100%)|ADAM_cysteine-rich(100%),Disintegrin(84%),Reprolysin_(M12B)_family_zinc_metalloprotease_(0%)

ENSG00000085788.14

ENSG00000197140.15

ENST00000397166.7

ENST00000437682.6

downstream

upstream

duplicates(8)

TTGTGTATCCTCTTTCCTTCTTAGGTATCCATAATCCACAAAGCATATTTAAAAGGCTCTTGGCACGGGCAGCATTGGTTGAGCAG|CAATGTGGACCTGCAAGCTGTTGTGATTTTCGAACTTGTGTACTGAAAGACGGAGCAAAATGTTATAAAGGACTGTGCTGCAAAGACTGTCAA___ATTTTACAATCAGGCGTTGAATGTAGGCCGAAAGCACATCCTGAATGTGACATCGCTGAAAATTGTAATGGAAgCTCACCAGAATGTGGTCCTG

LH00995:48:23YTGFLT4:3:2349:47938:29389,LH00995:48:23YTGFLT4:5:2284:31685:24723,LH00995:48:23YTGFLT4:5:2284:31693:24737,LH00995:48:23YTGFLT4:6:1404:3378:28156,LH00995:48:23YTGFLT4:1:1367:9656:26783,LH00995:48:23YTGFLT4:1:2448:29339:26096,LH00995:48:23YTGFLT4:2:2165:8572:12938,LH00995:48:23YTGFLT4:2:2291:2853:1546,LH00995:48:23YTGFLT4:4:2175:1809:29613,LH00995:48:23YTGFLT4:5:1487:33603:12546,LH00995:48:23YTGFLT4:5:2142:41426:18137,LH00995:48:23YTGFLT4:5:2212:39233:14452,LH00995:48:23YTGFLT4:5:2365:37332:24330,LH00995:48:23YTGFLT4:6:1272:46992:11215,LH00995:48:23YTGFLT4:6:1476:31847:26068,LH00995:48:23YTGFLT4:6:2290:11590:14774,LH00995:48:23YTGFLT4:7:1241:6469:17338,LH00995:48:23YTGFLT4:7:1369:46344:28870,LH00995:48:23YTGFLT4:7:2154:14494:5372

DDHD2

ADAM32

+/+

chr8:38261599

chr8:39211144

3'UTR/splice-site

CDS/splice-site

deletion

101

high

stop-codon

DDHD_domain(100%),SAM_domain_(Sterile_alpha_motif)(100%),WWE_domain(100%)|ADAM_cysteine-rich(100%),Disintegrin(95%),Reprolysin_(M12B)_family_zinc_metalloprotease_(14%)

ENSG00000085788.14

ENSG00000197140.15

ENST00000397166.7

ENST00000379907.9

downstream

upstream

duplicates(6)

ATTGAAAGTTTTAATGAGTATTTATTTGCTTTACAAAGCCATCTATGCTACTG___GGAGTCTGAAGATACAGTATTGCTCGTCCTCAAAGAGATCTACCAAACCCAGGGTATCTTCCTTGATCAGCCTTTACAGTAAAAATGACCCATCTATGGCTGCTTAAT___GTATCCATAATCCACAAAGCATATTTAAAAGGCTCTTGGCACGGGCAGCATTGGTTGAGCAG|GCAATCCAATGGTGTGAAGACTTTTAGCAGTTGCAGTTTGAGGAGCTTTCAAAATTTCATTTCAAATGTGGGTGTCAAATGTCTTCA

LH00995:48:23YTGFLT4:2:1433:29655:6325,LH00995:48:23YTGFLT4:3:2376:7949:17577,LH00995:48:23YTGFLT4:5:1438:7448:24807,LH00995:48:23YTGFLT4:5:1498:23385:5302,LH00995:48:23YTGFLT4:5:2416:32074:26572,LH00995:48:23YTGFLT4:6:1195:38699:13779,LH00995:48:23YTGFLT4:6:1452:1178:9071,LH00995:48:23YTGFLT4:7:2303:16492:24583,LH00995:48:23YTGFLT4:7:2303:16500:24569,LH00995:48:23YTGFLT4:3:1115:23458:9015,LH00995:48:23YTGFLT4:3:1245:15829:23125,LH00995:48:23YTGFLT4:4:1494:40746:10038,LH00995:48:23YTGFLT4:4:2483:31524:27357,LH00995:48:23YTGFLT4:6:1348:47162:29081,LH00995:48:23YTGFLT4:7:2293:42971:9688

DDHD2

ADAM32

+/+

chr8:38260147

chr8:39270876

3'UTR/splice-site

CDS/splice-site

deletion

1056

212

low

stop-codon

DDHD_domain(100%),SAM_domain_(Sterile_alpha_motif)(100%),WWE_domain(100%)|

ENSG00000085788.14

ENSG00000197140.15

ENST00000397166.7

ENST00000437682.6

downstream

upstream

CTCGTCCTCAAAGAGATCTACCAAACCCAGGGTATCTTCCTTGATCAGCCTTTACAGTAAAAATGACCCATCTATGGCTGCTTAAT|ATCTAAATCGGAAGGTAGCAC

LH00995:48:23YTGFLT4:5:2355:49184:5372

NAGA

DGCR2

-/-

chr22:42060924

chr22:19041959

CDS/splice-site

deletion

589

1101

high

out-of-frame

Alpha_galactosidase_A(100%),Alpha_galactosidase_A_C-terminal_beta_sandwich_domain(67%)|

ENSG00000198951.12

ENSG00000070413.20

ENST00000396398.8

ENST00000537045.5

upstream

downstream

duplicates(21)

GCTAGCGCCTTAGTCTTCTTCAGCTGCAGGACCGATATGCCTTATCGCTACCACTCCTCCCTTGGCCAGCTGAACTTCACCGGGTCTGTGATATATGAG|ATGGCAACAGTCTGTTTGACTCCATGGCCAGCGGGATGCGCCTGGTCGTCAGCTGCATCTCCTCCTTCCTCATCCTGTCACTGCTGCTCTTCATGGTCCACCGGCTGCGCCAGCGGCGCCGGGAGCGCATCGAGTCCCT

ASALVFFSCRTDMPYRYHSSLGQLNFTGSVIYE|matvcltpwpagcawssaasppssschccsswstgcasgagsassp

LH00995:48:23YTGFLT4:1:1310:7779:8679,LH00995:48:23YTGFLT4:1:1413:30723:17815,LH00995:48:23YTGFLT4:2:1258:16476:13093,LH00995:48:23YTGFLT4:2:1298:39751:21346,LH00995:48:23YTGFLT4:2:1335:47857:28044,LH00995:48:23YTGFLT4:2:2267:24412:8875,LH00995:48:23YTGFLT4:2:2337:15530:18319,LH00995:48:23YTGFLT4:3:1144:21896:2948,LH00995:48:23YTGFLT4:3:2203:18855:24302,LH00995:48:23YTGFLT4:3:2461:19591:25914,LH00995:48:23YTGFLT4:4:2161:43756:17605,LH00995:48:23YTGFLT4:4:2274:11590:6143,LH00995:48:23YTGFLT4:5:1156:51514:17843,LH00995:48:23YTGFLT4:5:1253:12747:17815,LH00995:48:23YTGFLT4:5:1330:45802:19076,LH00995:48:23YTGFLT4:5:1358:29226:21696,LH00995:48:23YTGFLT4:5:1480:13078:2527,LH00995:48:23YTGFLT4:5:2123:50292:4629,LH00995:48:23YTGFLT4:5:2276:14907:28786,LH00995:48:23YTGFLT4:6:1136:29461:23420,LH00995:48:23YTGFLT4:6:1155:34104:10360,LH00995:48:23YTGFLT4:6:1155:34112:10374,LH00995:48:23YTGFLT4:6:1155:34120:10360,LH00995:48:23YTGFLT4:6:1194:9697:5414,LH00995:48:23YTGFLT4:6:1397:41280:28534,LH00995:48:23YTGFLT4:6:2163:45179:3844,LH00995:48:23YTGFLT4:6:2238:21872:5848,LH00995:48:23YTGFLT4:6:2271:15619:2499,LH00995:48:23YTGFLT4:7:1143:4738:8735,LH00995:48:23YTGFLT4:7:1430:14543:27091,LH00995:48:23YTGFLT4:1:1237:12884:16708,LH00995:48:23YTGFLT4:1:2123:5223:28212,LH00995:48:23YTGFLT4:1:2123:5231:28226,LH00995:48:23YTGFLT4:4:1480:26095:28941,LH00995:48:23YTGFLT4:4:1480:26103:28955,LH00995:48:23YTGFLT4:6:1322:26330:16400,LH00995:48:23YTGFLT4:6:1322:26346:16400,LH00995:48:23YTGFLT4:7:1353:49419:10795,LH00995:48:23YTGFLT4:7:1353:49427:10809

NAGA

DGCR2

-/-

chr22:42062827

chr22:19041959

CDS/splice-site

deletion

503

1101

medium

out-of-frame

Alpha_galactosidase_A(100%),Alpha_galactosidase_A_C-terminal_beta_sandwich_domain(10%)|

ENSG00000198951.12

ENSG00000070413.20

ENST00000396398.8

ENST00000537045.5

upstream

downstream

duplicates(2)

TCCGCCCAGAACATGGACATTCTGCAGAATCCACTCATGATCAAAATCAACCAGGATCCCTTAGGCATCCAGGGACGCAGGATTCACAAG|ATGGCAACAGTCTGTTTGACTCCATGGCCAGCGGGATGCGCCTGGTCGTCAGCTGCATCTCCTCCTTCCTCATCCTGTCACTGCTGCTCTTCATGGTCCACCGGCTGCGCCAGCGGCGCCGGGAGCGCATCGAGTCCCTGATTGGAGCAAACT___TGCACCACTTCAACCTCGGCCGCAGGATCCCTGGCTTTGATTACGGCCCAGACGGGTTTGGCACGGGCCTCACGCCGCTGCATCTTTCTGACGACGGAGAGGGTGGGACTTTCCATTTCCACGACCCTCCACCTCCC

SAQNMDILQNPLMIKINQDPLGIQGRRIHK|matvcltpwpagcawssaasppssschccsswstgcasgagsassp*

LH00995:48:23YTGFLT4:2:1374:7148:24653,LH00995:48:23YTGFLT4:2:1374:7156:24667,LH00995:48:23YTGFLT4:4:1163:26597:18179,LH00995:48:23YTGFLT4:5:2356:45179:12672,LH00995:48:23YTGFLT4:2:2392:44993:21122

RIMKLB

LINC01252

+/+

+/-

chr12:8714041

chr12:11585159

CDS/splice-site

intron

inversion/3'-3'

1745

high

out-of-frame

ENSG00000166532.16

ENSG00000247157.7

ENST00000544257.5

downstream

duplicates(14),mismatches(4)

TGTGGTTTTTGACAGATCGTCGCATCAGGGAAGACTATCCTCAAAAAGAGATTTTACGAGCATTGAAGGCCAAATGTTGTGAGGAGGAACTGGACTTTAGGGCTGTGGTGATGGATGAGGTGGTGCTGACAATCGAGCAAGGAAACCTGG|GTGGATTTCTTCAGTAAATGGCAATTGATTGGTAAGAGGTGTGTTCACGAGGTGGAAGGAGCACTGTGTAAtAAGGAAATTGGGATGTTAGTTCTG

WFLTDRRIREDYPQKEILRALKAKCCEEELDFRAVVMDEVVLTIEQGNL|ggflq*

LH00995:48:23YTGFLT4:1:1128:19243:26825,LH00995:48:23YTGFLT4:1:1128:19251:26811,LH00995:48:23YTGFLT4:1:1153:23822:18501,LH00995:48:23YTGFLT4:1:2103:38408:25662,LH00995:48:23YTGFLT4:1:2309:31540:8104,LH00995:48:23YTGFLT4:1:2383:19914:7334,LH00995:48:23YTGFLT4:2:2481:50098:21108,LH00995:48:23YTGFLT4:2:2481:50106:21122,LH00995:48:23YTGFLT4:2:2485:4171:7978,LH00995:48:23YTGFLT4:3:2303:40261:13261,LH00995:48:23YTGFLT4:3:2344:33764:6577,LH00995:48:23YTGFLT4:3:2481:1518:2345,LH00995:48:23YTGFLT4:4:1180:31532:5036,LH00995:48:23YTGFLT4:4:2182:30383:26474,LH00995:48:23YTGFLT4:4:2448:17924:2962,LH00995:48:23YTGFLT4:5:2245:47356:24597,LH00995:48:23YTGFLT4:5:2245:47364:24583,LH00995:48:23YTGFLT4:5:2353:1631:17142,LH00995:48:23YTGFLT4:6:1275:34137:18123,LH00995:48:23YTGFLT4:6:2217:40228:11691,LH00995:48:23YTGFLT4:7:1416:40835:10921,LH00995:48:23YTGFLT4:7:1427:46830:6619,LH00995:48:23YTGFLT4:7:1463:38141:13681,LH00995:48:23YTGFLT4:7:2255:6817:20603,LH00995:48:23YTGFLT4:7:2278:36272:3662,LH00995:48:23YTGFLT4:7:2278:36280:3676,LH00995:48:23YTGFLT4:1:1122:32219:6143,LH00995:48:23YTGFLT4:3:2120:37858:22215,LH00995:48:23YTGFLT4:5:1247:44370:27525,LH00995:48:23YTGFLT4:5:2114:30407:1827,LH00995:48:23YTGFLT4:7:1121:22673:19987,LH00995:48:23YTGFLT4:7:1174:48326:24485,LH00995:48:23YTGFLT4:7:1174:48335:24499,LH00995:48:23YTGFLT4:7:1214:22455:17506,LH00995:48:23YTGFLT4:7:2122:40245:10907

SVIL

KIAA1217

-/-

+/+

chr10:29657969

chr10:24380869

5'UTR/splice-site

CDS/splice-site

inversion

1374

high

|Actin_interacting_protein_3(100%)

ENSG00000197321.15

ENSG00000120549.18

ENST00000674475.1

ENST00000376462.5

upstream

duplicates(22)

AGTGGATGGCCTTGAGGACTTGAAAAGCTGAGATATGATGATTTTGAAGTCATTTCACATCGAAGCCATGATTTAAATATCGGCGTTAAG|ACAAGGAGCCCCAAACTGTCTCACAGTCCTCAACCACCCAGTCTGGGTGACCCGGTCGAGCATTTATCAGAGACGTCCGgTGATTCTTTGGAAGCCATGTCTGAGGGGGATGCTCCAACCCCTTTTTCCAGAGGCAGCCGGACTCGTGCGAGCCTTCCTGTGGTGAGGTCA

LH00995:48:23YTGFLT4:1:1143:8135:23083,LH00995:48:23YTGFLT4:1:2221:15829:24218,LH00995:48:23YTGFLT4:2:1350:35132:26881,LH00995:48:23YTGFLT4:2:2177:44209:9197,LH00995:48:23YTGFLT4:2:2246:16525:8553,LH00995:48:23YTGFLT4:2:2246:17633:9099,LH00995:48:23YTGFLT4:2:2443:38133:15208,LH00995:48:23YTGFLT4:3:2132:5150:15222,LH00995:48:23YTGFLT4:3:2132:5158:15236,LH00995:48:23YTGFLT4:3:2132:5166:15222,LH00995:48:23YTGFLT4:3:2333:49686:6885,LH00995:48:23YTGFLT4:4:1281:9414:2962,LH00995:48:23YTGFLT4:4:1355:28830:4083,LH00995:48:23YTGFLT4:4:1422:43691:13849,LH00995:48:23YTGFLT4:4:1466:50309:29487,LH00995:48:23YTGFLT4:4:2314:28215:3578,LH00995:48:23YTGFLT4:5:1191:48060:17997,LH00995:48:23YTGFLT4:5:1263:26443:11579,LH00995:48:23YTGFLT4:5:1438:2650:21010,LH00995:48:23YTGFLT4:5:2178:18887:3340,LH00995:48:23YTGFLT4:5:2247:6550:8679,LH00995:48:23YTGFLT4:6:1233:15093:22803,LH00995:48:23YTGFLT4:6:1233:15101:22789,LH00995:48:23YTGFLT4:6:2155:7084:29389,LH00995:48:23YTGFLT4:7:1130:44500:24527,LH00995:48:23YTGFLT4:7:1316:40139:3018,LH00995:48:23YTGFLT4:7:1340:35002:2527,LH00995:48:23YTGFLT4:7:1340:35010:2513,LH00995:48:23YTGFLT4:7:1340:35010:2541,LH00995:48:23YTGFLT4:1:1192:38772:10823,LH00995:48:23YTGFLT4:1:1226:22341:12574,LH00995:48:23YTGFLT4:1:1483:14526:26418,LH00995:48:23YTGFLT4:1:1483:14535:26404,LH00995:48:23YTGFLT4:1:1483:14543:26418,LH00995:48:23YTGFLT4:2:2404:10142:4839,LH00995:48:23YTGFLT4:2:2434:51789:14116,LH00995:48:23YTGFLT4:5:1452:40156:28716,LH00995:48:23YTGFLT4:6:2198:25327:18978,LH00995:48:23YTGFLT4:7:1162:43222:3592

WAC

AL355298.1(218231),RPL21P16(66311)

+/+

./+

chr10:28535757

chr10:120288390

CDS/splice-site

intergenic

deletion

2731

high

out-of-frame

ENSG00000095787.24

ENST00000680735.1

downstream

upstream

duplicates(14)

GCGAGACGCCGGAGATCCTTCACCACCAAATAAAATGTTGCGGAGATCTGATAGTCCTGAAAACAAATACAGTGACAGCACAGGTCACAGTAAGGCCAAAAATGTGCATACTCACAGAGTTAGAGAGAGGGATGGTG|ACTTTTTTTTAGCAAGCATACCTTAGGAAACTGAACTTCGCTTGAAACTGAAACTACCCTCCCAAAATCATCTCCAAG___GC

ETPEILHHQIKCCGDLIVLKTNTVTAQVTVRPKMCILTELERGMV|tff*

LH00995:48:23YTGFLT4:1:1106:6736:25872,LH00995:48:23YTGFLT4:1:1398:13620:5400,LH00995:48:23YTGFLT4:1:2180:45948:18712,LH00995:48:23YTGFLT4:2:1108:16630:2429,LH00995:48:23YTGFLT4:2:2417:17843:17871,LH00995:48:23YTGFLT4:3:1232:19340:9253,LH00995:48:23YTGFLT4:3:1331:3589:6717,LH00995:48:23YTGFLT4:3:1436:32996:24667,LH00995:48:23YTGFLT4:3:1467:21055:13513,LH00995:48:23YTGFLT4:3:2301:12739:14886,LH00995:48:23YTGFLT4:4:1257:8669:27343,LH00995:48:23YTGFLT4:5:1104:40423:23518,LH00995:48:23YTGFLT4:5:1209:30585:24078,LH00995:48:23YTGFLT4:5:1288:23725:18361,LH00995:48:23YTGFLT4:6:1411:29420:22117,LH00995:48:23YTGFLT4:6:2252:50074:10136,LH00995:48:23YTGFLT4:6:2408:10287:29529,LH00995:48:23YTGFLT4:6:2428:47962:3368,LH00995:48:23YTGFLT4:7:1432:21541:17857,LH00995:48:23YTGFLT4:1:2295:1429:11719,LH00995:48:23YTGFLT4:1:2410:29032:20547,LH00995:48:23YTGFLT4:2:1133:43440:23560,LH00995:48:23YTGFLT4:3:2317:32640:28450,LH00995:48:23YTGFLT4:3:2322:28854:20463,LH00995:48:23YTGFLT4:4:1114:25149:7908,LH00995:48:23YTGFLT4:6:1229:1073:8104,LH00995:48:23YTGFLT4:6:1333:39436:1911,LH00995:48:23YTGFLT4:7:1114:37721:16904,LH00995:48:23YTGFLT4:7:1114:37729:16890,LH00995:48:23YTGFLT4:7:1114:37737:16904

NAGA

DGCR11

-/-

chr22:42060924

chr22:19046686

CDS/splice-site

exon

deletion

589

high

out-of-frame

Alpha_galactosidase_A(100%),Alpha_galactosidase_A_C-terminal_beta_sandwich_domain(67%)|

ENSG00000198951.12

ENSG00000273311.1

ENST00000396398.8

ENST00000609958.1

upstream

downstream

duplicates(9)

CTCTCATCGAAGTGTACATGCGGCCTCTGTCCAACAAGGCTAGCGCCTTAGTCTTCTTCAGCTGCAGGACCGATATGCCTTATCGCTACCACTCCTCCCTTGGCCAGCTGAACTTCACCGGGTCTGTGATATATGAG|GGCCTTCTTCTGGAAAGTGCTCAAGAACCGAGACACTATCACCAAAACTGGAGACTCTGGGAATAGGATGTCATGTGTTAAGCATCAGAATGTCCCCTCCAACAAGC

LIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNFTGSVIYE|glllesaqeprhyhqnwrlwe*

LH00995:48:23YTGFLT4:4:2475:38441:25970,LH00995:48:23YTGFLT4:6:2390:8394:23532,LH00995:48:23YTGFLT4:1:1252:10425:1659,LH00995:48:23YTGFLT4:1:1283:9292:18473,LH00995:48:23YTGFLT4:1:2153:20367:16133,LH00995:48:23YTGFLT4:1:2274:8993:11621,LH00995:48:23YTGFLT4:2:1273:27309:17338,LH00995:48:23YTGFLT4:2:1289:46886:26026,LH00995:48:23YTGFLT4:3:1253:39808:1659,LH00995:48:23YTGFLT4:3:2280:40075:28436,LH00995:48:23YTGFLT4:3:2322:14251:3130,LH00995:48:23YTGFLT4:4:2216:38861:13947,LH00995:48:23YTGFLT4:4:2385:17156:23378,LH00995:48:23YTGFLT4:4:2397:13378:7838,LH00995:48:23YTGFLT4:4:2410:40641:6213,LH00995:48:23YTGFLT4:4:2429:19211:22705,LH00995:48:23YTGFLT4:5:2264:12925:2738,LH00995:48:23YTGFLT4:5:2393:15886:14676,LH00995:48:23YTGFLT4:5:2474:30755:27399,LH00995:48:23YTGFLT4:6:1268:3864:6157,LH00995:48:23YTGFLT4:6:2157:1170:24639,LH00995:48:23YTGFLT4:6:2402:5344:5890,LH00995:48:23YTGFLT4:7:1328:32413:18669

AC092807.3

DDAH1

-/-

chr1:85496166

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

322

high

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(12)

TGGAAAAGGAGCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATACAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAA

LH00995:48:23YTGFLT4:1:1351:37243:29361,LH00995:48:23YTGFLT4:1:2220:42890:27792,LH00995:48:23YTGFLT4:2:1175:2238:27105,LH00995:48:23YTGFLT4:2:1278:28571:4671,LH00995:48:23YTGFLT4:3:1264:29566:24947,LH00995:48:23YTGFLT4:3:1346:27867:1294,LH00995:48:23YTGFLT4:4:1427:11428:11775,LH00995:48:23YTGFLT4:4:2162:1615:1617,LH00995:48:23YTGFLT4:4:2196:29800:20617,LH00995:48:23YTGFLT4:5:2146:25173:10612,LH00995:48:23YTGFLT4:5:2303:43044:2583,LH00995:48:23YTGFLT4:6:1340:39290:8076,LH00995:48:23YTGFLT4:6:2228:47550:2822,LH00995:48:23YTGFLT4:7:1218:5797:9842,LH00995:48:23YTGFLT4:7:1365:6218:13821,LH00995:48:23YTGFLT4:1:1310:1429:11495,LH00995:48:23YTGFLT4:1:2117:13823:17829,LH00995:48:23YTGFLT4:3:1262:40868:12770,LH00995:48:23YTGFLT4:3:2144:28150:28744,LH00995:48:23YTGFLT4:4:1395:46919:7418,LH00995:48:23YTGFLT4:4:1395:46935:7418,LH00995:48:23YTGFLT4:4:1436:51579:5764,LH00995:48:23YTGFLT4:4:2125:17730:8230,LH00995:48:23YTGFLT4:6:2403:29040:28520

AC092807.3

DDAH1

-/-

chr1:85577984

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

322

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(7)

TGCCCAAAGACCGTCCAGAAACCCCAGCCTCCCGTCGCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTC

LH00995:48:23YTGFLT4:3:2171:23393:18431,LH00995:48:23YTGFLT4:6:1334:33433:3648,LH00995:48:23YTGFLT4:6:1428:8459:15517,LH00995:48:23YTGFLT4:7:1407:45713:15194,LH00995:48:23YTGFLT4:7:1407:45722:15208,LH00995:48:23YTGFLT4:7:1407:45730:15222,LH00995:48:23YTGFLT4:3:1210:32268:17352,LH00995:48:23YTGFLT4:3:1471:32567:7754,LH00995:48:23YTGFLT4:4:1432:50519:26432,LH00995:48:23YTGFLT4:4:1457:38198:11874,LH00995:48:23YTGFLT4:4:2188:32147:19608,LH00995:48:23YTGFLT4:6:1161:25513:2513

ERC1

ADAM2

+/+

-/+

chr12:1444750

chr8:39838147

CDS/splice-site

CDS

translocation/5'-5'

1374

high

out-of-frame

FIP_domain_(10%),RIM-binding_protein_of_the_cytomatrix_active_zone(100%)|

ENSG00000082805.20

ENSG00000104755.15

ENST00000543086.7

downstream

upstream

duplicates(12),mismappers(1),mismatches(1)

CCTGACAACCCTCTGCCATGACCGAGACCCCCTGATCCTCCGTGGACTCACTCCACCAGCTTCCTATAACTTGGACGATGACCAGGCGGCTTGGGAGAATGAGCTGCAGAAGATGACCCGGGGGCAG|CCCGCCGAGCCCGCTGAGCAGAAACAAGACGCGCCACATGGCTTGAAGTCCTGGGTCCCAGCCGGAATAATGGCAGTTGGTGGTTACAGGGCAGTTGGAAG

LTTLCHDRDPLILRGLTPPASYNLDDDQAAWENELQKMTRGQ|paepaeqkqdaphglkswvpagimavggyravg

LH00995:48:23YTGFLT4:1:2126:13167:3494,LH00995:48:23YTGFLT4:2:1164:11606:28955,LH00995:48:23YTGFLT4:3:1152:12229:28436,LH00995:48:23YTGFLT4:5:2119:50268:19608,LH00995:48:23YTGFLT4:7:1245:40123:14228,LH00995:48:23YTGFLT4:7:1245:40131:14214,LH00995:48:23YTGFLT4:7:2126:19372:1406,LH00995:48:23YTGFLT4:1:1327:16322:8202,LH00995:48:23YTGFLT4:1:2104:38594:3648,LH00995:48:23YTGFLT4:2:1210:26977:16960,LH00995:48:23YTGFLT4:2:1462:35569:3564,LH00995:48:23YTGFLT4:2:2224:16403:27904,LH00995:48:23YTGFLT4:3:1284:16331:3172,LH00995:48:23YTGFLT4:3:1284:16339:3158,LH00995:48:23YTGFLT4:3:1383:31265:14634,LH00995:48:23YTGFLT4:3:2137:47574:3704,LH00995:48:23YTGFLT4:4:1162:45770:14592,LH00995:48:23YTGFLT4:4:1311:51215:15307,LH00995:48:23YTGFLT4:5:1231:7593:10767,LH00995:48:23YTGFLT4:5:1334:52072:27665,LH00995:48:23YTGFLT4:5:1436:48286:6927,LH00995:48:23YTGFLT4:5:2160:10376:7292,LH00995:48:23YTGFLT4:6:2222:12245:21066,LH00995:48:23YTGFLT4:6:2435:35277:16428,LH00995:48:23YTGFLT4:7:1361:36968:24961,LH00995:48:23YTGFLT4:7:2120:6606:17520

NEBL

LINC01153(143284),RN7SKP167(81666)

-/-

./-

chr10:21172383

chr10:121329250

CDS/splice-site

intergenic

duplication

1695

high

out-of-frame

LIM_domain(92%)|

ENSG00000078114.19

ENST00000417816.2

upstream

downstream

duplicates(8)

GCCTGGATAAG___TATTGGCATAAAGGATGTTTCCATTGTGAGGTCTGCAAGATGGCACTCAACATGAACAACTACAAAGGCTATGAAAAGAAGCCCTATTGTAATGC|GTCCATCAGCTTGTGATGGAGAGCGAAACACCAGGTTAGGAGCAGCTACAGGTATGGGGCACTGGGAGGG

LDKYWHKGCFHCEVCKMALNMNNYKGYEKKPYCNa|sisl*

LH00995:48:23YTGFLT4:1:1272:36879:19819,LH00995:48:23YTGFLT4:1:2417:22746:19216,LH00995:48:23YTGFLT4:2:1193:39549:27581,LH00995:48:23YTGFLT4:2:2154:46846:25592,LH00995:48:23YTGFLT4:2:2222:31475:29431,LH00995:48:23YTGFLT4:2:2225:7415:22733,LH00995:48:23YTGFLT4:3:1422:41159:26839,LH00995:48:23YTGFLT4:3:1440:3670:12322,LH00995:48:23YTGFLT4:3:2413:43375:10416,LH00995:48:23YTGFLT4:3:2439:41943:27161,LH00995:48:23YTGFLT4:4:1225:31338:15208,LH00995:48:23YTGFLT4:4:1230:25367:14312,LH00995:48:23YTGFLT4:4:2495:30496:11705,LH00995:48:23YTGFLT4:4:2496:18450:24106,LH00995:48:23YTGFLT4:5:1198:45738:2121,LH00995:48:23YTGFLT4:6:1410:51530:10248,LH00995:48:23YTGFLT4:6:2353:43270:11019,LH00995:48:23YTGFLT4:7:1271:30278:15082,LH00995:48:23YTGFLT4:6:1447:16047:16442

SGSM1

MYCL

+/+

-/+

chr22:24806484

chr1:39897743

CDS/splice-site

CDS

translocation/5'-5'

160

159

high

out-of-frame

ENSG00000167037.19

ENSG00000116990.11

ENST00000400358.9

downstream

upstream

duplicates(13)

GCCACCGCCTCCTGGGACTCGGAACGCAGCGCTCGGAGCCATGGCCTCGGCCCCCGCGG___AGGCGGAGACCCGACAGAGGCTGCTACGCACCGTCAAGAAGGAG|CATCTCTCTCCAGAACCTCTTCTTGGGGACCCCTCTCTGAAGCCTCTTCTTGGGAGCAGCTTTCTGGAGGAAAACGGGCAGCATAGTTGTGCTGTTGCTGAT

MASAPAEAETRQRLLRTVKKE|hlspepllgdpslkpllgssfleengqhscava

LH00995:48:23YTGFLT4:1:1425:43570:14816,LH00995:48:23YTGFLT4:1:2224:17407:24569,LH00995:48:23YTGFLT4:1:2271:43327:1476,LH00995:48:23YTGFLT4:2:1273:27381:12868,LH00995:48:23YTGFLT4:2:2481:25505:8805,LH00995:48:23YTGFLT4:3:2323:33740:27301,LH00995:48:23YTGFLT4:4:1284:48238:6002,LH00995:48:23YTGFLT4:4:1480:40673:20701,LH00995:48:23YTGFLT4:4:2241:17641:14298,LH00995:48:23YTGFLT4:4:2294:2529:19006,LH00995:48:23YTGFLT4:5:2312:35229:24330,LH00995:48:23YTGFLT4:5:2404:37259:7418,LH00995:48:23YTGFLT4:6:1373:49168:2653,LH00995:48:23YTGFLT4:1:2152:39864:24765,LH00995:48:23YTGFLT4:2:1466:33441:5260,LH00995:48:23YTGFLT4:3:1235:47623:22201,LH00995:48:23YTGFLT4:3:2333:51700:15559,LH00995:48:23YTGFLT4:4:1232:40592:23504,LH00995:48:23YTGFLT4:5:1242:44354:23406,LH00995:48:23YTGFLT4:6:1159:8863:25550,LH00995:48:23YTGFLT4:7:1237:41094:25746

SGSM1

MYCL-AS1

+/+

chr22:24806484

chr1:39897743

CDS/splice-site

intergenic

translocation

160

159

high

out-of-frame

ENSG00000167037.19

ENSG00000236546.1

ENST00000400358.9

ENST00000418255.1

downstream

upstream

duplicates(13)

MASAPAEAETRQRLLRTVKKE|hlspepllgdpslkpllgssfleengqhscava

SBF2

NELL1

-/-

+/-

chr11:10294015

chr11:21269730

CDS/splice-site

intron

duplication/5'-5'

712

high

out-of-frame

ENSG00000133812.17

ENSG00000165973.19

ENST00000256190.13

upstream

downstream

low_entropy(1),mismatches(1)

GCCGCTGCAGGGAAAATGCTGAGCCCTCCCGGGCCGGGTGGGCGGCGGCGGCGAGGGCGGCGACGGGGACCCGCTTCCCGAGCGCGGCGGCGGCGGCCATGGCCCGGCTGGCTGACTACTTCATCGTGGTAGGCTATGACCACGAGAAGCCAG|ATCCATGATTTGAACTATATGATTTTCCTCTTCTATGAAGACCTTCAACATTTCTTGTAAG___TACCCTTGCCAGTTGATAAACCAGGAGCAGGAACC

MARLADYFIVVGYDHEKP|dp*

LH00995:48:23YTGFLT4:1:2280:51506:3284,LH00995:48:23YTGFLT4:2:1468:28781:28912,LH00995:48:23YTGFLT4:2:2184:11824:1841,LH00995:48:23YTGFLT4:3:2370:19575:2962,LH00995:48:23YTGFLT4:4:2279:20189:23532,LH00995:48:23YTGFLT4:4:2293:7367:27721,LH00995:48:23YTGFLT4:5:1238:42841:23700,LH00995:48:23YTGFLT4:1:1288:39832:28632,LH00995:48:23YTGFLT4:3:2192:1639:11159

ERCC1

PLEKHH3

-/-

chr19:45449173

chr17:42668303

5'UTR/splice-site

CDS/splice-site

translocation

1683

high

ENSG00000012061.16

ENSG00000068137.15

ENST00000592083.5

ENST00000591022.6

upstream

downstream

duplicates(15)

CTCGAGAAAGACAG___GATCACGTGATAAGGCACTAGCAGATGTGGTTGGAATCCTTGCTGTGCTGAATCCTGGCTGTGTGACCCCAA|GTGGAAGAGATCATGCAGCTGGTGAATGCCTACTTGGCCAACCCCTCCCCCGAGAGGCCCTGCAGCAGCTCTTCTCCTCCATGCCAAGACCTGCCAGACACCTCCC...TGGACGAGCCCCAGGGACAGTCTGGCTGCTTGGGGCAGCTGCAGGACTGAGCCTGCCAAGAGGTCACGACTTCCCTCCTGCCTGCAGCCTGGGCCAGGACTGCTCTGAGATTTGAGGGAAACATGGACCCTTTTGGCCCTGCAGGGACAGG

LH00995:48:23YTGFLT4:1:2463:23692:23714,LH00995:48:23YTGFLT4:2:1138:9713:15335,LH00995:48:23YTGFLT4:2:1138:9721:15321,LH00995:48:23YTGFLT4:2:1356:51959:22705,LH00995:48:23YTGFLT4:3:1263:12124:29207,LH00995:48:23YTGFLT4:3:1470:8872:4657,LH00995:48:23YTGFLT4:4:1118:22018:10192,LH00995:48:23YTGFLT4:4:1375:35763:3088,LH00995:48:23YTGFLT4:5:1246:6995:22313,LH00995:48:23YTGFLT4:5:2175:40002:2107,LH00995:48:23YTGFLT4:5:2355:21840:3494,LH00995:48:23YTGFLT4:5:2355:21856:3494,LH00995:48:23YTGFLT4:6:1257:34129:24022,LH00995:48:23YTGFLT4:6:2326:14057:16077,LH00995:48:23YTGFLT4:6:2432:45956:27133,LH00995:48:23YTGFLT4:6:2478:5312:28674,LH00995:48:23YTGFLT4:7:1126:29655:21682,LH00995:48:23YTGFLT4:7:1126:29663:21668,LH00995:48:23YTGFLT4:7:1353:26864:22929,LH00995:48:23YTGFLT4:7:1472:23587:15629,LH00995:48:23YTGFLT4:5:2226:14818:16077

KCNC1

ADORA2A-AS1

+/+

-/-

chr11:17736572

chr22:24475153

CDS/splice-site

exon/splice-site

translocation

high

out-of-frame

BTB/POZ_domain(100%),Ion_transport_protein(0%)|

ENSG00000129159.9

ENSG00000178803.12

ENST00000639325.2

ENST00000326341.8

downstream

duplicates(4),mismappers(1),mismatches(1)

GCTGGAGATGACCAAGCGCCTGGCGCTCAGTGACTCCCCGGATGGCCGGCCTGGCGGCTTTTGGCGCCGCTGGCAGCCGCGCATCTGGGCGCTCTTCGAGGACCCGTACTCGTCCCGCTACGCGCGG|AGGTAGGATTTCACTCTGTCACCCAGGCGGGAGTGCAGTGGTGCGATCATAGCGGGGACTACAAGTGT?CACCACATGCTTGTCTACG

LEMTKRLALSDSPDGRPGGFWRRWQPRIWALFEDPYSSRYAR|r*

LH00995:48:23YTGFLT4:1:1284:3087:5596,LH00995:48:23YTGFLT4:1:2160:13362:2429,LH00995:48:23YTGFLT4:1:2327:46563:29529,LH00995:48:23YTGFLT4:2:1108:35609:1280,LH00995:48:23YTGFLT4:2:2383:4163:15082,LH00995:48:23YTGFLT4:3:1298:31548:12630,LH00995:48:23YTGFLT4:4:1451:8815:19412,LH00995:48:23YTGFLT4:5:1192:7011:10626,LH00995:48:23YTGFLT4:6:1251:44193:27077,LH00995:48:23YTGFLT4:3:2206:20149:16596,LH00995:48:23YTGFLT4:4:2279:43497:22369

KCNC1

ADORA2A-AS1

+/+

-/-

chr11:17736572

chr22:24442140

CDS/splice-site

exon/splice-site

translocation

low

out-of-frame

BTB/POZ_domain(100%),Ion_transport_protein(0%)|

ENSG00000129159.9

ENSG00000178803.12

ENST00000639325.2

ENST00000326341.8

downstream

GCTTCGGCGGCGCTCCTCTGGACAACAGCGCCGACGACGCGGACGCCGACGGCCCTGGCGACTCGGGCGACGGCGAGGACGAGCTGGAGATGACCAAGCGCCTGGCGCTCAGTGACTCCCCGGATGGCCGGCtTGGCGGCTTTTGGCGCCGCTGGCAGCCGCGCATCTGGGCGCTCTTCGAGGACCCGTACTCGTCCCGCTACGCGCGG|CTTTGTCACTCCAAGAGATGGCCC

FGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDSPDGRlGGFWRRWQPRIWALFEDPYSSRYAR|lchskrw

LH00995:48:23YTGFLT4:5:2152:30601:2191

KCNC1

ADORA2A-AS1

+/+

-/-

chr11:17736572

chr22:24460771

CDS/splice-site

exon/splice-site

translocation

low

out-of-frame

BTB/POZ_domain(100%),Ion_transport_protein(0%)|

ENSG00000129159.9

ENSG00000178803.12

ENST00000639325.2

ENST00000427813.6

downstream

GCCGCGCATCTGGGCGCTCTTCGAGGACCCGTACTCGTCCCGCTACGCGCGG|ATCAGGACCTGAAGTAGGTGGCTGCCCATCCAGGTATTCTACA

PRIWALFEDPYSSRYAR|irt*

LH00995:48:23YTGFLT4:3:2455:47776:15461

DLG5

MCU

-/-

+/+

chr10:77926217

chr10:72834359

CDS/splice-site

inversion

1206

640

high

out-of-frame

|Mitochondrial_calcium_uniporter(100%)

ENSG00000151208.17

ENSG00000156026.14

ENST00000372391.7

ENST00000373053.7

upstream

duplicates(9)

GGCAGCTGGACGAGGAGGCGGGAGGCGCCAAGGCGGAGCTGCTGCTCAAGCTGCTCTTGGCCAAGGAGCGGGACCACTTCCAGGACCTGCGGGCGGCGCTGGAGAAGACGCAGCCTCACCTGCTGCCCATTCTCTACCTGAACGGCGTCGTCGGGCCGCCGCAGCCCGCCGAAGGCGCGG|GTACACCAGAGGATCGCTTCCTGGCAGAATTTGGGAGCTGTTTATTGCAGCACTGTTGTGCCCTCTGATG___ATGTTACAGTGGTTTATCAAAATGGGTTACCTGTGATATCTGTGAGGCTACCATCCCGGCGTGAACGCTGTCAGTTCACACTCAAGCCTATCTCTGACTCTGTTGGTGTATTTTTACGACAACTGCAAGAAGAGGATCGGGGAATTGACAGAGTTGCTATCTATTCACCAGGTATAGTCACC

QLDEEAGGAKAELLLKLLLAKERDHFQDLRAALEKTQPHLLPILYLNGVVGPPQPAEGA|gtpedrflaefgscllqhccal*

LH00995:48:23YTGFLT4:3:1449:48011:21248,LH00995:48:23YTGFLT4:3:2277:1210:26446,LH00995:48:23YTGFLT4:3:2475:10999:29389,LH00995:48:23YTGFLT4:4:2167:35067:25059,LH00995:48:23YTGFLT4:4:2349:14316:13051,LH00995:48:23YTGFLT4:5:2198:43489:28464,LH00995:48:23YTGFLT4:2:2443:20327:9225,LH00995:48:23YTGFLT4:4:2257:6145:1336,LH00995:48:23YTGFLT4:6:1263:9373:9786,LH00995:48:23YTGFLT4:6:1263:9381:9772,LH00995:48:23YTGFLT4:6:2167:36774:23308,LH00995:48:23YTGFLT4:7:1397:47299:17212,LH00995:48:23YTGFLT4:7:1397:47315:17212,LH00995:48:23YTGFLT4:7:2221:32972:2962

DLG5

MCU

-/-

+/+

chr10:77926217

chr10:72715111

CDS/splice-site

inversion

1206

low

out-of-frame

|Mitochondrial_calcium_uniporter(100%)

ENSG00000151208.17

ENSG00000156026.14

ENST00000372391.7

ENST00000604679.5

upstream

duplicates(1)

AGAAGACGCAGCCTCACCTGCTGCCCATTCTCTACCTGAACGGCGTCGTCGGGCCGCCGCAGCCCGCCGAAGGCGCGG|GTCTTTCACTACCATTCCTACAGTGATTGGCAAGATACCGTTTCT

KTQPHLLPILYLNGVVGPPQPAEGA|glslpflq*

LH00995:48:23YTGFLT4:1:1340:26589:14970,LH00995:48:23YTGFLT4:1:1340:26597:14984

DLG5

MCU

-/-

+/+

chr10:77926217

chr10:72736485

CDS/splice-site

3'UTR/splice-site

inversion

1206

low

out-of-frame

|Mitochondrial_calcium_uniporter(100%)

ENSG00000151208.17

ENSG00000156026.14

ENST00000372391.7

ENST00000603649.5

upstream

CCAGGACCTGCGGGCGGCGCTGGAGAAGACGCAGCCTCACCTGCTGCCCATTCTCTACCTGAACGGCGTCGTCGGGCCGCCGCAGCCCGCCGAAGGCGCGG|ATGGTTCTGTTATATCCCCCAGAGACCAAG

QDLRAALEKTQPHLLPILYLNGVVGPPQPAEGA|dgsvisprdq

LH00995:48:23YTGFLT4:7:1286:27519:28184

KIAA1217

TEX36

+/+

-/-

chr10:24209263

chr10:125576874

CDS/splice-site

inversion

896

high

out-of-frame

ENSG00000120549.18

ENSG00000175018.13

ENST00000458595.5

ENST00000532135.5

downstream

duplicates(9)

GGGAGCTTTTAGAACTGCGCTCTGAAGTTTCCAGAGAGCGAGGAGCTTTTGCGGCAGGCAGAGACAATGGAAGAAAATGAAAGCCAGAAATGTGAGCCGTGCCTTCCTTACTCAGCAGACAGAAGACAGATGCAGG|GAAAGAATGACAGCAACGGACCCACAGGGAGAACCAGACAAGAGACAAGAGTTCTATGAGCCGGTGAGGACCCAGTCCATTCCTCATCCAGGCCTGAGAACTAATGCACC

MEENESQKCEPCLPYSADRRQMQ|gkndsngptgrtrqetrvl*

LH00995:48:23YTGFLT4:1:1232:41596:16526,LH00995:48:23YTGFLT4:1:1468:47817:21304,LH00995:48:23YTGFLT4:3:1176:10829:14101,LH00995:48:23YTGFLT4:3:1201:15044:12995,LH00995:48:23YTGFLT4:3:2308:9786:29529,LH00995:48:23YTGFLT4:4:1277:15287:22803,LH00995:48:23YTGFLT4:4:1334:9365:7109,LH00995:48:23YTGFLT4:4:2301:2901:13121,LH00995:48:23YTGFLT4:5:2244:39929:9267,LH00995:48:23YTGFLT4:5:2394:42356:9183,LH00995:48:23YTGFLT4:6:2219:36192:6381,LH00995:48:23YTGFLT4:6:2456:3160:11159,LH00995:48:23YTGFLT4:7:2203:42348:1743,LH00995:48:23YTGFLT4:5:2244:43845:5848

ANO2

AKAP3

-/-

-/+

chr12:5921040

chr12:4641100

CDS/splice-site

intron

inversion/5'-5'

1692

high

out-of-frame

Dimerisation_domain_of_Ca+-activated_chloride-channel__anoctamin(33%)|

ENSG00000047617.15

ENSG00000111254.8

ENST00000327087.12

upstream

duplicates(10),mismappers(3)

GTGACATTGAGCTGGGgCCGCTCGATGCCCTGGAGGAGGAGAGGAAGGAGCAGCGGGAGGAATTTGAGCACAATCTGATGGAGGCTGGACTGGAGCTTGAGAAGGACTTGGAG|TCTCACTCTGTTGGCCAGGTTGGAGTGTACAGGCGCGATCTCGGCTCACTGCAACATCTGCCTCCCAGGATGCTCACCGCAACCTCCGCC

DIELGPLDALEEERKEQREEFEHNLMEAGLELEKDLE|shsvgqvgvyrrdlgslqhlpprmltats

LH00995:48:23YTGFLT4:1:1285:25351:8595,LH00995:48:23YTGFLT4:1:1154:13006:11761,LH00995:48:23YTGFLT4:1:2213:38853:27609,LH00995:48:23YTGFLT4:2:1197:46919:10500,LH00995:48:23YTGFLT4:2:1476:14785:18543,LH00995:48:23YTGFLT4:4:2454:29849:6941,LH00995:48:23YTGFLT4:5:1259:7553:10444,LH00995:48:23YTGFLT4:6:1326:25278:24134,LH00995:48:23YTGFLT4:6:2117:36135:16568,LH00995:48:23YTGFLT4:6:2494:34048:22425,LH00995:48:23YTGFLT4:7:1196:16808:2794,LH00995:48:23YTGFLT4:7:1196:16816:2808,LH00995:48:23YTGFLT4:7:1196:16824:2794,LH00995:48:23YTGFLT4:7:1302:41693:22859,LH00995:48:23YTGFLT4:7:1312:43926:3578,LH00995:48:23YTGFLT4:7:1478:28862:13947,LH00995:48:23YTGFLT4:7:2262:22835:23994

AC244669.1

SEC22B3P

-/-

chr1:120340756

chr1:148779001

exon/splice-site

duplication

352

101

high

ENSG00000223804.5

ENSG00000275140.1

ENST00000616141.4

ENST00000616023.1

upstream

downstream

duplicates(2)

GGGATGTGTTCAAGGCAAGACCGAATTCAGAAGGATATCGACGTCGTGATCCAGAAGTCCAGAGCTGAGGACTGCCTGTTTGCAG___ATTTCAGATACTCAGACTCCACCTTTACTTTTACCTATGTTGGCGGCCCCAGAAG|CTACATTATTGAGCAGGGGGTGTGTGATTTGGTTTTATGTGAAGCTGCCTTCCCTAAGACGTTGGCTTTTGCCTACCTAGAAGATTTGCACTCAGAATTTGATGAACAGCATGGAAAGAAGGTGCC

LH00995:48:23YTGFLT4:1:2177:40414:22495,LH00995:48:23YTGFLT4:3:2261:16225:18571,LH00995:48:23YTGFLT4:5:1150:36046:3746,LH00995:48:23YTGFLT4:6:1369:16314:1294,LH00995:48:23YTGFLT4:1:1365:35213:8833,LH00995:48:23YTGFLT4:1:2135:20918:20169

ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

1255

1258

medium

in-frame

SAP_domain(100%)|RNSP1-SAP18_binding_(RSB)_motif(100%)

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(161),mismappers(35)

CTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGAT

HSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETK

LH00995:48:23YTGFLT4:1:1143:30617:1294,LH00995:48:23YTGFLT4:1:1152:45058:2401,LH00995:48:23YTGFLT4:1:1190:25950:21682,LH00995:48:23YTGFLT4:1:1202:35593:13275,LH00995:48:23YTGFLT4:1:1202:35601:13261,LH00995:48:23YTGFLT4:1:1216:4754:23223,LH00995:48:23YTGFLT4:1:1217:21079:17058,LH00995:48:23YTGFLT4:1:1222:41757:10753,LH00995:48:23YTGFLT4:1:1269:41304:28828,LH00995:48:23YTGFLT4:1:1324:37041:2639,LH00995:48:23YTGFLT4:1:1342:23369:25704,LH00995:48:23YTGFLT4:1:1396:44047:9253,LH00995:48:23YTGFLT4:1:1401:21718:19286,LH00995:48:23YTGFLT4:1:1404:40245:22313,LH00995:48:23YTGFLT4:1:1413:9996:21458,LH00995:48:23YTGFLT4:1:1425:14106:28128,LH00995:48:23YTGFLT4:1:1445:40536:11159,LH00995:48:23YTGFLT4:1:1456:11566:20393,LH00995:48:23YTGFLT4:1:1456:28223:6619,LH00995:48:23YTGFLT4:1:1456:28231:6633,LH00995:48:23YTGFLT4:1:1486:38246:12518,LH00995:48:23YTGFLT4:1:2143:32090:24471,LH00995:48:23YTGFLT4:1:2174:18216:17226,LH00995:48:23YTGFLT4:1:2227:4196:16231,LH00995:48:23YTGFLT4:1:2253:5563:4671,LH00995:48:23YTGFLT4:1:2266:5085:26628,LH00995:48:23YTGFLT4:1:2272:51158:12154,LH00995:48:23YTGFLT4:1:2302:21023:22845,LH00995:48:23YTGFLT4:1:2317:17811:22495,LH00995:48:23YTGFLT4:1:2321:44403:10150,LH00995:48:23YTGFLT4:1:2346:32729:20701,LH00995:48:23YTGFLT4:1:2371:16614:3690,LH00995:48:23YTGFLT4:1:2435:50333:2121,LH00995:48:23YTGFLT4:2:1118:32244:26306,LH00995:48:23YTGFLT4:2:1146:2149:17198,LH00995:48:23YTGFLT4:2:1150:51927:5806,LH00995:48:23YTGFLT4:2:1155:23959:4699,LH00995:48:23YTGFLT4:2:1174:51020:1182,LH00995:48:23YTGFLT4:2:1264:13507:8679,LH00995:48:23YTGFLT4:2:1275:5272:2149,LH00995:48:23YTGFLT4:2:1289:8499:25844,LH00995:48:23YTGFLT4:2:1329:43367:8469,LH00995:48:23YTGFLT4:2:1341:36475:13821,LH00995:48:23YTGFLT4:2:1364:6509:12784,LH00995:48:23YTGFLT4:2:1375:2974:29697,LH00995:48:23YTGFLT4:2:1376:2828:26895,LH00995:48:23YTGFLT4:2:1376:2845:26895,LH00995:48:23YTGFLT4:2:1444:23498:24022,LH00995:48:23YTGFLT4:2:1471:16735:18277,LH00995:48:23YTGFLT4:2:1473:33020:23252,LH00995:48:23YTGFLT4:2:2154:12585:22887,LH00995:48:23YTGFLT4:2:2160:20400:18487,LH00995:48:23YTGFLT4:2:2171:31766:22565,LH00995:48:23YTGFLT4:2:2207:2569:13247,LH00995:48:23YTGFLT4:2:2239:15764:14886,LH00995:48:23YTGFLT4:2:2244:50082:26909,LH00995:48:23YTGFLT4:2:2266:34792:17969,LH00995:48:23YTGFLT4:2:2269:38667:24737,LH00995:48:23YTGFLT4:2:2273:13653:26642,LH00995:48:23YTGFLT4:2:2295:19874:28506,LH00995:48:23YTGFLT4:2:2306:41490:18501,LH00995:48:23YTGFLT4:2:2323:8103:17731,LH00995:48:23YTGFLT4:2:2362:13855:7404,LH00995:48:23YTGFLT4:2:2397:29444:16890,LH00995:48:23YTGFLT4:2:2423:2934:2752,LH00995:48:23YTGFLT4:3:1114:48092:27609,LH00995:48:23YTGFLT4:3:1137:28911:3746,LH00995:48:23YTGFLT4:3:1167:12399:9085,LH00995:48:23YTGFLT4:3:1196:5296:4237,LH00995:48:23YTGFLT4:3:1209:25294:20435,LH00995:48:23YTGFLT4:3:1209:49589:11257,LH00995:48:23YTGFLT4:3:1219:19801:21178,LH00995:48:23YTGFLT4:3:1222:21104:21024,LH00995:48:23YTGFLT4:3:1248:24566:29431,LH00995:48:23YTGFLT4:3:1292:48836:21668,LH00995:48:23YTGFLT4:3:1295:20675:9604,LH00995:48:23YTGFLT4:3:1354:48941:27735,LH00995:48:23YTGFLT4:3:1363:49580:9141,LH00995:48:23YTGFLT4:3:1410:14195:12364,LH00995:48:23YTGFLT4:3:1445:38052:17815,LH00995:48:23YTGFLT4:3:2178:4770:9379,LH00995:48:23YTGFLT4:3:2418:50446:12322,LH00995:48:23YTGFLT4:4:1116:20545:23952,LH00995:48:23YTGFLT4:4:1129:13653:7558,LH00995:48:23YTGFLT4:4:1133:39703:16918,LH00995:48:23YTGFLT4:4:1146:31160:24401,LH00995:48:23YTGFLT4:4:1176:18377:26418,LH00995:48:23YTGFLT4:4:1204:6995:3816,LH00995:48:23YTGFLT4:4:1227:23288:19398,LH00995:48:23YTGFLT4:4:1233:39565:24302,LH00995:48:23YTGFLT4:4:1308:1841:26839,LH00995:48:23YTGFLT4:4:1366:40172:6745,LH00995:48:23YTGFLT4:4:1394:46490:19622,LH00995:48:23YTGFLT4:4:1427:30731:27553,LH00995:48:23YTGFLT4:4:1457:49904:20603,LH00995:48:23YTGFLT4:4:1457:50818:9660,LH00995:48:23YTGFLT4:4:1458:2731:9183,LH00995:48:23YTGFLT4:4:1465:15853:14592,LH00995:48:23YTGFLT4:4:1498:51975:16231,LH00995:48:23YTGFLT4:4:2104:16217:6535,LH00995:48:23YTGFLT4:4:2123:27131:26194,LH00995:48:23YTGFLT4:4:2163:38554:21262,LH00995:48:23YTGFLT4:4:2312:51352:20085,LH00995:48:23YTGFLT4:4:2331:8969:24078,LH00995:48:23YTGFLT4:4:2338:16250:26881,LH00995:48:23YTGFLT4:4:2338:16258:26867,LH00995:48:23YTGFLT4:4:2357:15263:11075,LH00995:48:23YTGFLT4:4:2396:28700:16498,LH00995:48:23YTGFLT4:4:2418:50114:24302,LH00995:48:23YTGFLT4:4:2460:33206:10823,LH00995:48:23YTGFLT4:4:2462:9357:3256,LH00995:48:23YTGFLT4:4:2478:32470:1953,LH00995:48:23YTGFLT4:4:2495:38376:23560,LH00995:48:23YTGFLT4:5:1143:26564:12098,LH00995:48:23YTGFLT4:5:1215:33295:14116,LH00995:48:23YTGFLT4:5:1216:44379:15713,LH00995:48:23YTGFLT4:5:1266:24307:28198,LH00995:48:23YTGFLT4:5:1275:5652:4909,LH00995:48:23YTGFLT4:5:1359:14389:17072,LH00995:48:23YTGFLT4:5:1365:10198:23041,LH00995:48:23YTGFLT4:5:1365:18474:10697,LH00995:48:23YTGFLT4:5:1381:42736:22481,LH00995:48:23YTGFLT4:5:1447:24291:4069,LH00995:48:23YTGFLT4:5:1476:19558:7249,LH00995:48:23YTGFLT4:5:2102:5352:16133,LH00995:48:23YTGFLT4:5:2140:33708:29151,LH00995:48:23YTGFLT4:5:2156:26241:23756,LH00995:48:23YTGFLT4:5:2309:16986:15461,LH00995:48:23YTGFLT4:5:2323:32834:2443,LH00995:48:23YTGFLT4:5:2327:27924:5736,LH00995:48:23YTGFLT4:5:2334:23013:20968,LH00995:48:23YTGFLT4:5:2334:7229:11565,LH00995:48:23YTGFLT4:5:2378:8556:27932,LH00995:48:23YTGFLT4:5:2437:2052:5428,LH00995:48:23YTGFLT4:5:2441:39775:9533,LH00995:48:23YTGFLT4:5:2452:30876:20799,LH00995:48:23YTGFLT4:5:2454:14171:17927,LH00995:48:23YTGFLT4:5:2475:3969:13569,LH00995:48:23YTGFLT4:5:2478:1210:18655,LH00995:48:23YTGFLT4:5:2480:31257:22411,LH00995:48:23YTGFLT4:5:2483:21249:2359,LH00995:48:23YTGFLT4:5:2483:21265:2359,LH00995:48:23YTGFLT4:6:1153:4616:11075,LH00995:48:23YTGFLT4:6:1192:25529:22607,LH00995:48:23YTGFLT4:6:1216:26605:29459,LH00995:48:23YTGFLT4:6:1228:49249:11789,LH00995:48:23YTGFLT4:6:1274:12366:26741,LH00995:48:23YTGFLT4:6:1286:45802:25045,LH00995:48:23YTGFLT4:6:1296:41579:14928,LH00995:48:23YTGFLT4:6:1296:6081:25942,LH00995:48:23YTGFLT4:6:1302:52137:13821,LH00995:48:23YTGFLT4:6:1350:48140:25928,LH00995:48:23YTGFLT4:6:1350:48149:25914,LH00995:48:23YTGFLT4:6:1371:21929:13009,LH00995:48:23YTGFLT4:6:1411:13232:20645,LH00995:48:23YTGFLT4:6:1429:28352:15699,LH00995:48:23YTGFLT4:6:1431:9939:4237,LH00995:48:23YTGFLT4:6:1436:31176:22355,LH00995:48:23YTGFLT4:6:1445:15473:28506,LH00995:48:23YTGFLT4:6:1450:3896:21346,LH00995:48:23YTGFLT4:6:2106:23652:23532,LH00995:48:23YTGFLT4:6:2122:1267:2051,LH00995:48:23YTGFLT4:6:2127:50300:5848,LH00995:48:23YTGFLT4:6:2144:47437:21514,LH00995:48:23YTGFLT4:6:2236:31580:6325,LH00995:48:23YTGFLT4:6:2375:8443:22523,LH00995:48:23YTGFLT4:6:2408:26961:4909,LH00995:48:23YTGFLT4:7:1124:14308:6199,LH00995:48:23YTGFLT4:7:1139:44662:10094,LH00995:48:23YTGFLT4:7:1166:21071:1546,LH00995:48:23YTGFLT4:7:1181:22746:25297,LH00995:48:23YTGFLT4:7:1215:25836:16133,LH00995:48:23YTGFLT4:7:1223:33692:19622,LH00995:48:23YTGFLT4:7:1251:50357:12644,LH00995:48:23YTGFLT4:7:1293:26937:6773,LH00995:48:23YTGFLT4:7:1297:42599:9856,LH00995:48:23YTGFLT4:7:1392:5005:5694,LH00995:48:23YTGFLT4:7:1432:37211:11089,LH00995:48:23YTGFLT4:7:1452:46247:11075,LH00995:48:23YTGFLT4:7:1472:43990:7698,LH00995:48:23YTGFLT4:7:2123:25019:24639,LH00995:48:23YTGFLT4:7:2139:45535:5330,LH00995:48:23YTGFLT4:7:2213:50576:23980,LH00995:48:23YTGFLT4:7:2229:36645:7446,LH00995:48:23YTGFLT4:7:2241:17665:7418,LH00995:48:23YTGFLT4:7:2294:1938:8118,LH00995:48:23YTGFLT4:1:1213:16897:21276,LH00995:48:23YTGFLT4:1:1245:22123:8469,LH00995:48:23YTGFLT4:1:1254:37292:27287,LH00995:48:23YTGFLT4:1:1335:8548:14858,LH00995:48:23YTGFLT4:1:1418:22762:7978,LH00995:48:23YTGFLT4:1:2127:42089:23574,LH00995:48:23YTGFLT4:1:2168:23684:10500,LH00995:48:23YTGFLT4:1:2180:37777:11033,LH00995:48:23YTGFLT4:1:2297:1267:3368,LH00995:48:23YTGFLT4:1:2314:37025:20043,LH00995:48:23YTGFLT4:2:1101:45188:2934,LH00995:48:23YTGFLT4:2:1159:1607:12364,LH00995:48:23YTGFLT4:2:1162:9454:17128,LH00995:48:23YTGFLT4:2:1187:28093:15643,LH00995:48:23YTGFLT4:2:1187:28102:15657,LH00995:48:23YTGFLT4:2:1219:10198:9533,LH00995:48:23YTGFLT4:2:1224:2772:11579,LH00995:48:23YTGFLT4:2:1261:30609:1364,LH00995:48:23YTGFLT4:2:1293:4082:3564,LH00995:48:23YTGFLT4:2:1315:13798:24821,LH00995:48:23YTGFLT4:2:1324:28538:23364,LH00995:48:23YTGFLT4:2:1450:4139:26110,LH00995:48:23YTGFLT4:2:2115:27123:2163,LH00995:48:23YTGFLT4:2:2135:36442:11327,LH00995:48:23YTGFLT4:2:2163:13701:12882,LH00995:48:23YTGFLT4:2:2416:51846:25367,LH00995:48:23YTGFLT4:2:2417:2497:25031,LH00995:48:23YTGFLT4:3:1119:39881:29417,LH00995:48:23YTGFLT4:3:1145:9737:6409,LH00995:48:23YTGFLT4:3:1187:26475:27777,LH00995:48:23YTGFLT4:3:1203:14219:17843,LH00995:48:23YTGFLT4:3:1230:5911:15755,LH00995:48:23YTGFLT4:3:1262:21314:17100,LH00995:48:23YTGFLT4:3:1361:47089:16568,LH00995:48:23YTGFLT4:3:1389:5506:8805,LH00995:48:23YTGFLT4:3:1409:35811:21416,LH00995:48:23YTGFLT4:3:1418:21460:26516,LH00995:48:23YTGFLT4:3:1422:41741:15152,LH00995:48:23YTGFLT4:3:1422:41757:15152,LH00995:48:23YTGFLT4:3:1436:24421:11103,LH00995:48:23YTGFLT4:3:1458:15303:29137,LH00995:48:23YTGFLT4:3:1484:1671:18726,LH00995:48:23YTGFLT4:3:2142:7715:16974,LH00995:48:23YTGFLT4:3:2157:17892:22887,LH00995:48:23YTGFLT4:3:2227:14899:14648,LH00995:48:23YTGFLT4:3:2347:28271:22957,LH00995:48:23YTGFLT4:3:2348:10150:15307,LH00995:48:23YTGFLT4:3:2375:14106:28969,LH00995:48:23YTGFLT4:3:2479:47542:9057,LH00995:48:23YTGFLT4:3:2481:20092:29249,LH00995:48:23YTGFLT4:4:1102:17730:6857,LH00995:48:23YTGFLT4:4:1122:39063:5974,LH00995:48:23YTGFLT4:4:1124:23806:24863,LH00995:48:23YTGFLT4:4:1142:2812:1897,LH00995:48:23YTGFLT4:4:1203:2715:24036,LH00995:48:23YTGFLT4:4:1208:28166:2766,LH00995:48:23YTGFLT4:4:1274:23385:14214,LH00995:48:23YTGFLT4:4:1330:21136:14522,LH00995:48:23YTGFLT4:4:1381:30326:6143,LH00995:48:23YTGFLT4:4:1453:15999:2990,LH00995:48:23YTGFLT4:4:1458:8168:19104,LH00995:48:23YTGFLT4:4:1462:28110:9393,LH00995:48:23YTGFLT4:4:2103:47105:16568,LH00995:48:23YTGFLT4:4:2136:2772:7207,LH00995:48:23YTGFLT4:4:2161:19324:17352,LH00995:48:23YTGFLT4:4:2182:16484:8342,LH00995:48:23YTGFLT4:4:2344:28935:11972,LH00995:4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LATS2

-/-

chr13:20988344

chr13:20988349

CDS

duplication/ITD

1112

1096

medium

in-frame

|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%)

ENSG00000150457.9

ENST00000382592.5

upstream

downstream

duplicates(177),mismappers(1)

CGCACATCTTGCACCCGGTGAAGAGCGTGCGTGTGCTGAGGCCGGAGCCGCAGACGGCTGTGGGGCCCTCGCACCCCGCCTGGGTGCCCGCGCCTGCCCCGGCCCCCGCCCCCGCCCCCGCCCC|CGCCCCGGCTGCGGAGGGCTTGGACGCCAAGGAGGAGCATGCCCTGGCGCTGGGCGGCGCAGGCGCCTTCCCGCTGGACGTGGAGTACGGAGGCCCAGACCGGAG

HILHPVKSVRVLRPEPQTAVGPSHPAWVPAPAPAPAPAPAp|APAAEGLDAKEEHALALGGAGAFPLDVEYGGPDR

LH00995:48:23YTGFLT4:1:1130:19243:2219,LH00995:48:23YTGFLT4:1:1138:3556:27735,LH00995:48:23YTGFLT4:1:1149:6703:8413,LH00995:48:23YTGFLT4:1:1150:47056:22481,LH00995:48:23YTGFLT4:1:1221:28255:20239,LH00995:48:23YTGFLT4:1:1250:22786:26208,LH00995:48:23YTGFLT4:1:1250:22794:26194,LH00995:48:23YTGFLT4:1:1250:23150:25830,LH00995:48:23YTGFLT4:1:1251:11735:23350,LH00995:48:23YTGFLT4:1:1276:25367:8735,LH00995:48:23YTGFLT4:1:1405:23668:9043,LH00995:48:23YTGFLT4:1:1412:19736:22831,LH00995:48:23YTGFLT4:1:1414:4438:1294,LH00995:48:23YTGFLT4:1:1450:34428:19861,LH00995:48:23YTGFLT4:1:1470:45220:18992,LH00995:48:23YTGFLT4:1:1477:31839:2709,LH00995:48:23YTGFLT4:1:1487:32616:16946,LH00995:48:23YTGFLT4:1:1498:5571:6030,LH00995:48:23YTGFLT4:1:2124:43084:18908,LH00995:48:23YTGFLT4:1:2176:31855:4559,LH00995:48:23YTGFLT4:1:2181:34452:22873,LH00995:48:23YTGFLT4:1:2181:34460:22887,LH00995:48:23YTGFLT4:1:2209:7068:28912,LH00995:48:23YTGFLT4:1:2209:7076:28898,LH00995:48:23YTGFLT4:1:2226:29048:18557,LH00995:48:23YTGFLT4:1:2234:6105:20183,LH00995:48:23YTGFLT4:1:2284:49313:27904,LH00995:48:23YTGFLT4:1:2298:42348:13177,LH00995:48:23YTGFLT4:1:2304:40026:26811,LH00995:48:23YTGFLT4:1:2354:14518:27245,LH00995:48:23YTGFLT4:1:2372:14276:3480,LH00995:48:23YTGFLT4:1:2426:21217:17941,LH00995:48:23YTGFLT4:1:2436:44815:13891,LH00995:48:23YTGFLT4:2:1138:50503:6955,LH00995:48:23YTGFLT4:2:1142:19138:9996,LH00995:48:23YTGFLT4:2:1149:23159:13709,LH00995:48:23YTGFLT4:2:1182:20287:25157,LH00995:48:23YTGFLT4:2:1202:45495:7053,LH00995:48:23YTGFLT4:2:1211:14179:9001,LH00995:48:23YTGFLT4:2:1225:10012:19917,LH00995:48:23YTGFLT4:2:1230:18345:28660,LH00995:48:23YTGFLT4:2:1246:30812:12532,LH00995:48:23YTGFLT4:2:1271:50179:25087,LH00995:48:23YTGFLT4:2:1276:29388:29207,LH00995:48:23YTGFLT4:2:1430:26419:4699,LH00995:48:23YTGFLT4:2:1430:26427:4713,LH00995:48:23YTGFLT4:2:1464:40382:1308,LH00995:48:23YTGFLT4:2:1481:22673:27329,LH00995:48:23YTGFLT4:2:2120:8265:7782,LH00995:48:23YTGFLT4:2:2129:44896:10052,LH00995:48:23YTGFLT4:2:2140:5328:11019,LH00995:48:23YTGFLT4:2:2198:48545:10654,LH00995:48:23YTGFLT4:2:2222:16598:22523,LH00995:48:23YTGFLT4:2:2222:16606:22509,LH00995:48:23YTGFLT4:2:2268:25602:5974,LH00995:48:23YTGFLT4:2:2282:45568:24190,LH00995:48:23YTGFLT4:2:2296:33392:8511,LH00995:48:23YTGFLT4:2:2329:32672:12392,LH00995:48:23YTGFLT4:2:2354:19267:9547,LH00995:48:23YTGFLT4:2:2361:47631:16666,LH00995:48:23YTGFLT4:2:2381:15004:28758,LH00995:48:23YTGFLT4:2:2403:29614:10739,LH00995:48:23YTGFLT4:2:2408:34015:25283,LH00995:48:23YTGFLT4:2:2417:43392:2962,LH00995:48:23YTGFLT4:2:2448:3945:10220,LH00995:48:23YTGFLT4:2:2453:34048:18249,LH00995:48:23YTGFLT4:2:2481:51401:7053,LH00995:48:23YTGFLT4:3:1150:29752:14900,LH00995:48:23YTGFLT4:3:1205:6121:3480,LH00995:48:23YTGFLT4:3:1325:33028:22173,LH00995:48:23YTGFLT4:3:1370:43384:4069,LH00995:48:23YTGFLT4:3:1417:25149:13401,LH00995:48:23YTGFLT4:3:1432:30884:16329,LH00995:48:23YTGFLT4:3:1487:34412:15937,LH00995:48:23YTGFLT4:3:2101:31685:22369,LH00995:48:23YTGFLT4:3:2174:40439:23209,LH00995:48:23YTGFLT4:3:2181:30003:24050,LH00995:48:23YTGFLT4:3:2198:46935:27623,LH00995:48:23YTGFLT4:3:2206:7974:27259,LH00995:48:23YTGFLT4:3:2260:39735:27007,LH00995:48:23YTGFLT4:3:2281:36645:23364,LH00995:48:23YTGFLT4:3:2301:1057:6731,LH00995:48:23YTGFLT4:3:2391:40188:12154,LH00995:48:23YTGFLT4:3:2398:40528:18543,LH00995:48:23YTGFLT4:3:2435:7537:25409,LH00995:48:23YTGFLT4:3:2437:19801:12910,LH00995:48:23YTGFLT4:3:2437:19817:12910,LH00995:48:23YTGFLT4:3:2465:7423:2794,LH00995:48:23YTGFLT4:3:2498:30262:21164,LH00995:48:23YTGFLT4:4:1117:30828:23938,LH00995:48:23YTGFLT4:4:1224:34298:4699,LH00995:48:23YTGFLT4:4:1250:45074:12042,LH00995:48:23YTGFLT4:4:1270:9470:18922,LH00995:48:23YTGFLT4:4:1313:22754:15166,LH00995:48:23YTGFLT4:4:1348:45908:16203,LH00995:48:23YTGFLT4:4:1360:39711:23630,LH00995:48:23YTGFLT4:4:1363:26726:23364,LH00995:48:23YTGFLT4:4:1424:6736:17997,LH00995:48:23YTGFLT4:4:1426:9122:25550,LH00995:48:23YTGFLT4:4:1437:37373:9716,LH00995:48:23YTGFLT4:4:1439:22900:5414,LH00995:48:23YTGFLT4:4:2130:21718:11635,LH00995:48:23YTGFLT4:4:2145:34347:24260,LH00995:48:23YTGFLT4:4:2155:38910:22439,LH00995:48:23YTGFLT4:4:2203:43513:15138,LH00995:48:23YTGFLT4:4:2215:7601:1813,LH00995:48:23YTGFLT4:4:2286:21427:19566,LH00995:48:23YTGFLT4:4:2297:30909:13877,LH00995:48:23YTGFLT4:4:2302:48885:5638,LH00995:48:23YTGFLT4:4:2307:44540:7866,LH00995:48:23YTGFLT4:4:2360:37737:6983,LH00995:48:23YTGFLT4:4:2368:31564:3606,LH00995:48:23YTGFLT4:4:2370:45932:21878,LH00995:48:23YTGFLT4:4:2418:34460:19664,LH00995:48:23YTGFLT4:4:2455:43901:17885,LH00995:48:23YTGFLT4:5:1151:32697:25858,LH00995:48:23YTGFLT4:5:1177:1299:11103,LH00995:48:23YTGFLT4:5:1187:49168:23280,LH00995:48:23YTGFLT4:5:1220:40738:18095,LH00995:48:23YTGFLT4:5:1268:28692:8469,LH00995:48:23YTGFLT4:5:1273:3896:4223,LH00995:48:23YTGFLT4:5:1394:23830:19889,LH00995:48:23YTGFLT4:5:1402:22859:2653,LH00995:48:23YTGFLT4:5:1483:44775:1631,LH00995:48:23YTGFLT4:5:1495:36224:4699,LH00995:48:23YTGFLT4:5:2141:33983:17997,LH00995:48:23YTGFLT4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LT4:7:1311:18418:26236,LH00995:48:23YTGFLT4:7:1341:16864:28226,LH00995:48:23YTGFLT4:7:1363:37187:23209,LH00995:48:23YTGFLT4:7:1363:37195:23195,LH00995:48:23YTGFLT4:7:1367:6380:27777,LH00995:48:23YTGFLT4:7:1428:37907:23532,LH00995:48:23YTGFLT4:7:1484:14243:5330,LH00995:48:23YTGFLT4:7:1487:38699:27483,LH00995:48:23YTGFLT4:7:2104:39759:1799,LH00995:48:23YTGFLT4:7:2119:33716:4139,LH00995:48:23YTGFLT4:7:2290:43828:13779,LH00995:48:23YTGFLT4:7:2292:33667:27007

NACC2

-/-

chr9:136049968

chr9:136050054

CDS

duplication/ITD

930

929

medium

in-frame

BTB/POZ_domain(100%)|BEN_domain(100%)

ENSG00000148411.8

ENST00000277554.4

upstream

downstream

duplicates(103)

AGCTGCaGCCGGCCGcCgC|GGCCCCCTACGTCGTGTCCCCCTCGGTGCCCATCCCGCTGCTGACCCGAGTAAAGCATGAAGCCATGGAGCTGCCGCCGGCCGGCCCAGGCCTGGCCCCCAAGCGCCCGCTGGAGACGGGGCCCCGGGACGGCGTGGCGGTGGCCGCGGGGGCTGCGGTGGCGGCGGGCACAGC

LqPAaa|APYVVSPSVPIPLLTRVKHEAMELPPAGPGLAPKRPLETGPRDGVAVAAGAAVAAGT

LH00995:48:23YTGFLT4:4:1294:18749:12126,LH00995:48:23YTGFLT4:1:1122:38076:15082,LH00995:48:23YTGFLT4:1:1147:34800:7306,LH00995:48:23YTGFLT4:1:1147:34808:7292,LH00995:48:23YTGFLT4:1:1391:28393:19804,LH00995:48:23YTGFLT4:1:1403:4729:1210,LH00995:48:23YTGFLT4:1:1419:4616:13205,LH00995:48:23YTGFLT4:1:1480:24121:12574,LH00995:48:23YTGFLT4:1:1498:7415:2920,LH00995:48:23YTGFLT4:1:1498:7990:4727,LH00995:48:23YTGFLT4:1:2111:43189:5554,LH00995:48:23YTGFLT4:1:2135:3840:11103,LH00995:48:23YTGFLT4:1:2168:9648:27357,LH00995:48:23YTGFLT4:1:2174:52072:5918,LH00995:48:23YTGFLT4:1:2219:29469:28226,LH00995:48:23YTGFLT4:1:2402:25537:21108,LH00995:48:23YTGFLT4:1:2420:31135:23125,LH00995:48:23YTGFLT4:1:2421:19162:6675,LH00995:48:23YTGFLT4:1:2432:19008:9884,LH00995:48:23YTGFLT4:1:2453:23401:4097,LH00995:48:23YTGFLT4:1:2468:46975:24779,LH00995:48:23YTGFLT4:1:2497:6364:20519,LH00995:48:23YTGFLT4:2:1124:10077:24344,LH00995:48:23YTGFLT4:2:1125:41167:8497,LH00995:48:23YTGFLT4:2:1147:31863:16848,LH00995:48:23YTGFLT4:2:1246:20254:25297,LH00995:48:23YTGFLT4:2:1252:35269:21766,LH00995:48:23YTGFLT4:2:1302:16533:10612,LH00995:48:23YTGFLT4:2:1334:2707:2892,LH00995:48:23YTGFLT4:2:1337:23660:13849,LH00995:48:23YTGFLT4:2:1433:34452:19370,LH00995:48:23YTGFLT4:2:1449:24170:4587,LH00995:48:23YTGFLT4:2:1452:13451:6227,LH00995:48:23YTGFLT4:2:1484:33109:10879,LH00995:48:23YTGFLT4:2:2105:49330:8370,LH00995:48:23YTGFLT4:2:2140:35989:5302,LH00995:48:23YTGFLT4:2:2192:50220:8707,LH00995:48:23YTGFLT4:2:2234:28991:18011,LH00995:48:23YTGFLT4:2:2237:44071:4895,LH00995:48:23YTGFLT4:2:2239:11727:26306,LH00995:48:23YTGFLT4:2:2264:26322:19300,LH00995:48:23YTGFLT4:2:2343:24849:17422,LH00995:48:23YTGFLT4:2:2374:16873:2766,LH00995:48:23YTGFLT4:2:2374:16881:2780,LH00995:48:23YTGFLT4:2:2395:28069:6801,LH00995:48:23YTGFLT4:2:2407:29258:10963,LH00995:48:23YTGFLT4:2:2407:29275:10963,LH00995:48:23YTGFLT4:2:2444:16088:28226,LH00995:48:23YTGFLT4:2:2453:19146:15419,LH00995:48:23YTGFLT4:2:2468:6291:25465,LH00995:48:23YTGFLT4:2:2472:28708:9954,LH00995:48:23YTGFLT4:3:1102:32867:10402,LH00995:48:23YTGFLT4:3:1108:30666:24443,LH00995:48:23YTGFLT4:3:1169:32284:4881,LH00995:48:23YTGFLT4:3:1176:42388:12434,LH00995:48:23YTGFLT4:3:1196:7480:22565,LH00995:48:23YTGFLT4:3:1196:7488:22551,LH00995:48:23YTGFLT4:3:1220:7626:15222,LH00995:48:23YTGFLT4:3:1270:9082:29403,LH00995:48:23YTGFLT4:3:1322:21864:18501,LH00995:48:23YTGFLT4:3:1322:37971:24653,LH00995:48:23YTGFLT4:3:1332:27123:20687,LH00995:48:23YTGFLT4:3:1427:13928:10388,LH00995:48:23YTGFLT4:3:1434:32001:12546,LH00995:48:23YTGFLT4:3:1434:46547:9351,LH00995:48:23YTGFLT4:3:1440:30990:22733,LH00995:48:23YTGFLT4:3:1458:3443:9576,LH00995:48:23YTGFLT4:3:1463:43319:22453,LH00995:48:23YTGFLT4:3:1463:43335:22453,LH00995:48:23YTGFLT4:3:1498:50074:21850,LH00995:48:23YTGFLT4:3:2148:32899:4377,LH00995:48:23YTGFLT4:3:2179:19114:5470,LH00995:48:23YTGFLT4:3:2225:9511:14144,LH00995:48:23YTGFLT4:3:2272:41175:5624,LH00995:48:23YTGFLT4:3:2305:20497:10781,LH00995:48:23YTGFLT4:3:2373:32737:15867,LH00995:48:23YTGFLT4:4:1127:18288:9814,LH00995:48:23YTGFLT4:4:1158:21452:27287,LH00995:48:23YTGFLT4:4:1263:8961:12658,LH00995:48:23YTGFLT4:4:1339:32122:13849,LH00995:48:23YTGFLT4:4:1438:5506:20631,LH00995:48:23YTGFLT4:4:1438:5514:20617,LH00995:48:23YTGFLT4:4:1440:40884:1617,LH00995:48:23YTGFLT4:4:1445:30059:22579,LH00995:48:23YTGFLT4:4:1446:17148:9211,LH00995:48:23YTGFLT4:4:2246:50001:24751,LH00995:48:23YTGFLT4:4:2295:26564:11061,LH00995:48:23YTGFLT4:4:2329:25100:28898,LH00995:48:23YTGFLT4:4:2362:48537:17675,LH00995:48:23YTGFLT4:4:2371:48294:19524,LH00995:48:23YTGFLT4:4:2419:43869:15251,LH00995:48:23YTGFLT4:4:2457:46895:21332,LH00995:48:23YTGFLT4:5:1216:16007:17100,LH00995:48:23YTGFLT4:5:1241:3540:22467,LH00995:48:23YTGFLT4:5:1270:10554:6983,LH00995:48:23YTGFLT4:5:1291:48043:13485,LH00995:48:23YTGFLT4:5:1366:7844:22046,LH00995:48:23YTGFLT4:5:1367:1485:13499,LH00995:48:23YTGFLT4:5:1377:27956:14368,LH00995:48:23YTGFLT4:5:1414:33174:5526,LH00995:48:23YTGFLT4:5:1439:31904:16666,LH00995:48:23YTGFLT4:5:1476:22519:8258,LH00995:48:23YTGFLT4:5:1492:17131:9407,LH00995:48:23YTGFLT4:5:2138:7828:12014,LH00995:48:23YTGFLT4:5:2176:3160:6283,LH00995:48:23YTGFLT4:5:2241:1259:18992,LH00995:48:23YTGFLT4:5:2286:37785:7992,LH00995:48:23YTGFLT4:5:2315:8855:26152,LH00995:48:23YTGFLT4:5:2327:26281:22257,LH00995:48:23YTGFLT4:5:2335:4600:17997,LH00995:48:23YTGFLT4:5:2381:17568:7670,LH00995:48:23YTGFLT4:5:2393:6679:2121,LH00995:48:23YTGFLT4:5:2428:30496:10052,LH00995:48:23YTGFLT4:5:2470:27592:12532,LH00995:48:23YTGFLT4:6:1176:11104:11103,LH00995:48:23YTGFLT4:6:1191:21039:10010,LH00995:48:23YTGFLT4:6:1201:16808:16638,LH00995:48:23YTGFLT4:6:1213:30828:28926,LH00995:48:23YTGFLT4:6:1259:18434:8665,LH00995:48:23YTGFLT4:6:1272:46700:3536,LH00995:48:23YTGFLT4:6:1278:16420:2738,LH00995:48:23YTGFLT4:6:1289:32778:18796,LH00995:48:23YTGFLT4:6:1320:2464:24471,LH00995:48:23YTGFLT4:6:1320:2472:24457,LH00995:48:23YTGFLT4:6:1386:24404:9421,LH00995:48:23YTGFLT4:6:1387:41296:24863,LH00995:48:23YTGFLT4:6:1402:25699:17352,LH00995:48:23YTGFLT4:6:1402:25707:17338,LH00995:48:23YTGFLT4:6:1431:38068:16470,LH00995:48:23YTGFLT4:6:1431:38085:16470,LH00995:48:23YTGFLT4:6:1488:34096:2611,LH00995:48:23YTGFLT4:6:1494:16800:13709,LH00995:48:23YTGFLT4:6:2148:50268:18319,LH00995:48:23YTGFLT4:6:2182:43044:29291,LH00995:48:23YTGFLT4:6:2196:4463:10949,LH00995:48:23YTGFLT4:6:2349:25238:23616,LH00995:48:23YTGFLT4:6:2375:1671:5470,LH00995:48:23YTGFLT4:6:2404:34080:12924,LH00995:48:23YTGFLT4:6:2439:39233:28100,LH00995:48:23YTGFLT4:6:2455:5304:5596,LH00995:48:23YTGFLT4:6:2479:22592:19398,LH00995:48:23YTGFLT4:6:2490:48739:29263,LH00995:48:23YTGFLT4:7:1131:36855:15461,LH00995:48:23YTGFLT4:7:1136:49872:4881,LH00995:48:23YTGFLT4:7:1136:49888:4881,LH00995:48:23YTGFLT4:7:1137:3637:14564,LH00995:48:23YTGFLT4:7:1157:32656:14298,LH00995:48:23YTGFLT4:7:1419:1963:15923,LH00995:48:23YTGFLT4:7:1435:37405:23139,LH00995:48:23YTGFLT4:7:1471:42202:17436,LH00995:48:23YTGFLT4:7:1494:15651:14214,LH00995:48:23YTGFLT4:7:2121:7415:19342,LH00995:48:23YTGFLT4:7:2124:51894:6647,LH00995:48:23YTGFLT4:7:2138:28846:19244,LH00995:48:23YTGFLT4:7:2138:28862:19244,LH00995:48:23YTGFLT4:7:2212:43084:22551,LH00995:48:23YTGFLT4:7:2259:50446:2738,LH00995:48:23YTGFLT4:7:2281:31426:18193,LH00995:48:23YTGFLT4:7:2283:20821:20113

ARHGEF35

-/-

chr7:144188356

chr7:144188377

CDS

duplication/ITD

467

536

medium

out-of-frame

RhoGEF_5/35_N-terminal_disordered_region(1%)|RhoGEF_5/35_N-terminal_disordered_region(99%)

ENSG00000213214.5

ENST00000378115.3

upstream

downstream

duplicates(120),low_entropy(3)

GGGGACGGCTCTGGGGACTGCGGCCGGCGCCGGGACCTGGAGGGGACGCTGGGGCCGAAGCAGCATGTGACACCGACCAG___GATTCAGCCCTGATGGAGGCTGAGGAGGCCCAGCgTGGAG|GCTGAGGAGGCCCAGCgTGGAGCCTCTCCTCCCATCTCTGCCATAGAGGAATTCAGCATTATCCCTGAGGCTCCCATGAGGAGCAGCCAGGTCTCTGCCTTGGGGCTTGAAGCTCAAGA

MEAEEAQrG|g*

LH00995:48:23YTGFLT4:5:1105:32422:9828,LH00995:48:23YTGFLT4:5:1105:32422:9828,LH00995:48:23YTGFLT4:5:2196:44896:4419,LH00995:48:23YTGFLT4:5:2196:44896:4419,LH00995:48:23YTGFLT4:6:2374:2497:24274,LH00995:48:23YTGFLT4:6:2374:2497:24274,LH00995:48:23YTGFLT4:1:1147:30779:7292,LH00995:48:23YTGFLT4:1:1202:45503:17184,LH00995:48:23YTGFLT4:1:1202:45503:17184,LH00995:48:23YTGFLT4:1:1418:18207:23378,LH00995:48:23YTGFLT4:1:1418:18207:23378,LH00995:48:23YTGFLT4:1:2152:19170:22887,LH00995:48:23YTGFLT4:1:2170:8273:25816,LH00995:48:23YTGFLT4:1:2170:8273:25816,LH00995:48:23YTGFLT4:1:2223:40463:14172,LH00995:48:23YTGFLT4:1:2223:40463:14172,LH00995:48:23YTGFLT4:1:2241:42243:11145,LH00995:48:23YTGFLT4:1:2257:40746:27834,LH00995:48:23YTGFLT4:1:2257:40746:27834,LH00995:48:23YTGFLT4:1:2264:17131:18852,LH00995:48:23YTGFLT4:1:2264:17131:18852,LH00995:48:23YTGFLT4:1:2320:17479:28254,LH00995:48:23YTGFLT4:1:2322:11201:21472,LH00995:48:23YTGFLT4:1:2322:11201:21472,LH00995:48:23YTGFLT4:1:2421:13928:16021,LH00995:48:23YTGFLT4:1:2421:13928:16021,LH00995:48:23YTGFLT4:2:1189:22568:12434,LH00995:48:23YTGFLT4:2:1189:22568:12434,LH00995:48:23YTGFLT4:2:1302:28174:9674,LH00995:48:23YTGFLT4:2:1302:28174:9674,LH00995:48:23YTGFLT4:2:1408:44144:11551,LH00995:48:23YTGFLT4:2:1408:44144:11551,LH00995:48:23YTGFLT4:2:2106:15611:7137,LH00995:48:23YTGFLT4:2:2106:15611:7137,LH00995:48:23YTGFLT4:2:2117:29760:2724,LH00995:48:23YTGFLT4:2:2117:29760:2724,LH00995:48:23YTGFLT4:2:2372:24801:10052,LH00995:48:23YTGFLT4:2:2385:8920:15503,LH00995:48:23YTGFLT4:2:2421:38707:27077,LH00995:48:23YTGFLT4:2:2421:38707:27077,LH00995:48:23YTGFLT4:2:2484:45123:13303,LH00995:48:23YTGFLT4:2:2484:45123:13303,LH00995:48:23YTGFLT4:3:1104:42607:8553,LH00995:48:23YTGFLT4:3:1162:36200:9281,LH00995:48:23YTGFLT4:3:1162:36200:9281,LH00995:48:23YTGFLT4:3:1213:19397:29697,LH00995:48:23YTGFLT4:3:1213:19397:29697,LH00995:48:23YTGFLT4:3:1213:19413:29697,LH00995:48:23YTGFLT4:3:1213:19413:29697,LH00995:48:23YTGFLT4:3:1216:25982:29389,LH00995:48:23YTGFLT4:3:1216:25982:29389,LH00995:48:23YTGFLT4:3:1240:36920:1420,LH00995:48:23YTGFLT4:3:1240:36920:1420,LH00995:48:23YTGFLT4:3:1343:4552:2051,LH00995:48:23YTGFLT4:3:1343:4552:2051,LH00995:48:23YTGFLT4:3:1348:7699:5820,LH00995:48:23YTGFLT4:3:1348:7699:5820,LH00995:48:23YTGFLT4:3:1393:23328:22551,LH00995:48:23YTGFLT4:3:1393:23328:22551,LH00995:48:23YTGFLT4:3:1444:24906:18445,LH00995:48:23YTGFLT4:3:1444:24906:18445,LH00995:48:23YTGFLT4:3:2121:4956:2780,LH00995:48:23YTGFLT4:3:2121:4956:2780,LH00995:48:23YTGFLT4:3:2280:9373:8413,LH00995:48:23YTGFLT4:3:2291:12310:20757,LH00995:48:23YTGFLT4:3:2291:12310:20757,LH00995:48:23YTGFLT4:3:2331:23450:2219,LH00995:48:23YTGFLT4:3:2331:23450:2219,LH00995:48:23YTGFLT4:3:2362:9333:10052,LH00995:48:23YTGFLT4:3:2362:9333:10052,LH00995:48:23YTGFLT4:3:2388:51838:10052,LH00995:48:23YTGFLT4:3:2388:51838:10052,LH00995:48:23YTGFLT4:3:2403:32697:14956,LH00995:48:23YTGFLT4:3:2403:32697:14956,LH00995:48:23YTGFLT4:3:2472:8637:23868,LH00995:48:23YTGFLT4:4:1173:8548:7235,LH00995:48:23YTGFLT4:4:1173:8548:7235,LH00995:48:23YTGFLT4:4:1196:51910:13345,LH00995:48:23YTGFLT4:4:1196:51910:13345,LH00995:48:23YTGFLT4:4:1253:44379:27203,LH00995:48:23YTGFLT4:4:1253:44379:27203,LH00995:48:23YTGFLT4:4:1293:5498:29137,LH00995:48:23YTGFLT4:4:1293:5514:29137,LH00995:48:23YTGFLT4:4:1325:2060:10206,LH00995:48:23YTGFLT4:4:1485:37583:29697,LH00995:48:23YTGFLT4:4:1485:37583:29697,LH00995:48:23YTGFLT4:4:2389:41248:13597,LH00995:48:23YTGFLT4:4:2389:41248:13597,LH00995:48:23YTGFLT4:4:2421:8750:19889,LH00995:48:23YTGFLT4:4:2421:8750:19889,LH00995:48:23YTGFLT4:5:1122:1227:23560,LH00995:48:23YTGFLT4:5:1122:1227:23560,LH00995:48:23YTGFLT4:5:1176:18313:1729,LH00995:48:23YTGFLT4:5:1176:18313:1729,LH00995:48:23YTGFLT4:5:1271:39614:12196,LH00995:48:23YTGFLT4:5:1271:39614:12196,LH00995:48:23YTGFLT4:5:1364:32486:14956,LH00995:48:23YTGFLT4:5:1364:32486:14956,LH00995:48:23YTGFLT4:5:1446:29461:17254,LH00995:48:23YTGFLT4:5:1446:29461:17254,LH00995:48:23YTGFLT4:5:1455:43659:9898,LH00995:48:23YTGFLT4:5:1455:43659:9898,LH00995:48:23YTGFLT4:5:2227:41830:7460,LH00995:48:23YTGFLT4:5:2261:23377:1420,LH00995:48:23YTGFLT4:5:2301:42898:22257,LH00995:48:23YTGFLT4:5:2301:42898:22257,LH00995:48:23YTGFLT4:5:2344:25464:15657,LH00995:48:23YTGFLT4:5:2344:25464:15657,LH00995:48:23YTGFLT4:5:2437:28878:21654,LH00995:48:23YTGFLT4:5:2437:28878:21654,LH00995:48:23YTGFLT4:5:2456:5514:10556,LH00995:48:23YTGFLT4:5:2456:5514:10556,LH00995:48:23YTGFLT4:6:1112:5134:7936,LH00995:48:23YTGFLT4:6:1112:5134:7936,LH00995:48:23YTGFLT4:6:1146:33651:9295,LH00995:48:23YTGFLT4:6:1146:33651:9295,LH00995:48:23YTGFLT4:6:1157:37907:7586,LH00995:48:23YTGFLT4:6:1157:37907:7586,LH00995:48:23YTGFLT4:6:1190:51255:10276,LH00995:48:23YTGFLT4:6:1190:51255:10276,LH00995:48:23YTGFLT4:6:1274:15780:12140,LH00995:48:23YTGFLT4:6:1274:15780:12140,LH00995:48:23YTGFLT4:6:1298:41822:23336,LH00995:48:23YTGFLT4:6:1313:33878:16498,LH00995:48:23YTGFLT4:6:1332:14017:2499,LH00995:48:23YTGFLT4:6:1332:14033:2499,LH00995:48:23YTGFLT4:6:1371:1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ZNF814

-/-

chr19:57874500

chr19:57874583

CDS

duplication/ITD

436

462

medium

in-frame

KRAB_box(96%),Zinc_finger__C2H2_type(9%)|KRAB_box(3%),Zinc_finger__C2H2_type(95%)

ENSG00000204514.10

ENST00000435989.7

upstream

downstream

duplicates(207),low_entropy(1)

CTCACTAGAGAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATt

LTREECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKKH

LH00995:48:23YTGFLT4:1:1256:17034:18768,LH00995:48:23YTGFLT4:1:1256:17051:18768,LH00995:48:23YTGFLT4:1:1372:50300:20701,LH00995:48:23YTGFLT4:1:1372:50300:20701,LH00995:48:23YTGFLT4:1:2356:51490:4209,LH00995:48:23YTGFLT4:1:2356:51490:4209,LH00995:48:23YTGFLT4:1:2356:51490:4209,LH00995:48:23YTGFLT4:2:1320:26678:15040,LH00995:48:23YTGFLT4:2:1342:27470:15797,LH00995:48:23YTGFLT4:2:1450:24194:29123,LH00995:48:23YTGFLT4:2:2246:52096:23980,LH00995:48:23YTGFLT4:2:2246:52096:23980,LH00995:48:23YTGFLT4:2:2246:52096:23980,LH00995:48:23YTGFLT4:2:2333:47704:3004,LH00995:48:23YTGFLT4:2:2444:17415:10094,LH00995:48:23YTGFLT4:3:1201:33999:20715,LH00995:48:23YTGFLT4:3:1238:24073:10388,LH00995:48:23YTGFLT4:3:1238:24073:10388,LH00995:48:23YTGFLT4:3:1238:24073:10388,LH00995:48:23YTGFLT4:3:1238:24089:10388,LH00995:48:23YTGFLT4:3:1238:24089:10388,LH00995:48:23YTGFLT4:3:1238:24089:10388,LH00995:48:23YTGFLT4:3:1323:19049:23125,LH00995:48:23YTGFLT4:3:1408:40681:25844,LH00995:48:23YTGFLT4:3:2111:39565:5218,LH00995:48:23YTGFLT4:3:2364:42146:17703,LH00995:48:23YTGFLT4:4:1130:28805:2359,LH00995:48:23YTGFLT4:4:1401:32430:15475,LH00995:48:23YTGFLT4:4:1401:32430:15475,LH00995:48:23YTGFLT4:4:1401:32430:15475,LH00995:48:23YTGFLT4:4:1410:29598:21724,LH00995:48:23YTGFLT4:4:1410:29598:21724,LH00995:48:23YTGFLT4:4:1410:29598:21724,LH00995:48:23YTGFLT4:4:1498:9583:8356,LH00995:48:23YTGFLT4:4:1498:9583:8356,LH00995:48:23YTGFLT4:4:1498:9583:8356,LH00995:48:23YTGFLT4:4:2119:8815:23364,LH00995:48:23YTGFLT4:4:2119:8815:23364,LH00995:48:23YTGFLT4:4:2360:6687:23602,LH00995:48:23YTGFLT4:4:2360:6687:23602,LH00995:48:23YTGFLT4:4:2360:6687:23602,LH00995:48:23YTGFLT4:4:2360:6695:23616,LH00995:48:23YTGFLT4:4:2360:6695:23616,LH00995:48:23YTGFLT4:4:2360:6695:23616,LH00995:48:23YTGFLT4:4:2480:1947:14158,LH00995:48:23YTGFLT4:5:1414:5547:22915,LH00995:48:23YTGFLT4:5:1414:5547:22915,LH00995:48:23YTGFLT4:5:1414:5547:22915,LH00995:48:23YTGFLT4:5:2120:26823:26727,LH00995:48:23YTGFLT4:5:2137:33465:26544,LH00995:48:23YTGFLT4:5:2137:33465:26544,LH00995:48:23YTGFLT4:5:2137:33465:26544,LH00995:48:23YTGFLT4:5:2169:5886:8819,LH00995:48:23YTGFLT4:5:2169:5886:8819,LH00995:48:23YTGFLT4:5:2169:5886:8819,LH00995:48:23YTGFLT4:5:2439:50867:11005,LH00995:48:23YTGFLT4:5:2439:50867:11005,LH00995:48:23YTGFLT4:5:2439:50867:11005,LH00995:48:23YTGFLT4:5:2488:26265:12588,LH00995:48:23YTGFLT4:5:2488:26265:12588,LH00995:48:23YTGFLT4:5:2488:26265:12588,LH00995:48:23YTGFLT4:6:1304:35374:1378,LH00995:48:23YTGFLT4:6:1304:35374:1378,LH00995:48:23YTGFLT4:6:1304:35374:1378,LH00995:48:23YTGFLT4:6:1409:32066:3242,LH00995:48:23YTGFLT4:6:1409:32066:3242,LH00995:48:23YTGFLT4:6:1409:32066:3242,LH00995:48:23YTGFLT4:6:2149:13734:1729,LH00995:48:23YTGFLT4:6:2149:13734:1729,LH00995:48:23YTGFLT4:6:2149:13734:1729,LH00995:48:23YTGFLT4:7:1216:45624:5400,LH00995:48:23YTGFLT4:7:1216:45624:5400,LH00995:48:23YTGFLT4:7:1216:45624:5400,LH00995:48:23YTGFLT4:7:1340:21541:21556,LH00995:48:23YTGFLT4:7:1340:21541:21556,LH00995:48:23YTGFLT4:7:1340:21541:21556,LH00995:48:23YTGFLT4:7:2151:6703:13793,LH00995:48:23YTGFLT4:7:2233:50559:16161,LH00995:48:23YTGFLT4:1:1136:51587:16624,LH00995:48:23YTGFLT4:1:1136:51587:16624,LH00995:48:23YTGFLT4:1:1136:51603:16624,LH00995:48:23YTGFLT4:1:1136:51603:16624,LH00995:48:23YTGFLT4:1:1138:21217:6143,LH00995:48:23YTGFLT4:1:1223:43400:2583,LH00995:48:23YTGFLT4:1:1361:27867:27133,LH00995:48:23YTGFLT4:1:1361:27867:27133,LH00995:48:23YTGFLT4:1:1372:50300:20701,LH00995:48:23YTGFLT4:1:1383:5223:7109,LH00995:48:23YTGFLT4:1:2285:34727:23602,LH00995:48:23YTGFLT4:1:2356:51490:4209,LH00995:48:23YTGFLT4:2:2246:52096:23980,LH00995:48:23YTGFLT4:2:2368:19656:2177,LH00995:48:23YTGFLT4:2:2410:29501:11215,LH00995:48:23YTGFLT4:2:2410:29501:11215,LH00995:48:23YTGFLT4:2:2410:29501:11215,LH00995:48:23YTGFLT4:3:1163:28409:9379,LH00995:48:23YTGFLT4:3:1238:24073:10388,LH00995:48:23YTGFLT4:3:1238:24089:10388,LH00995:48:23YTGFLT4:3:1337:19089:24260,LH00995:48:23YTGFLT4:3:2256:37106:15363,LH00995:48:23YTGFLT4:3:2256:37106:15363,LH00995:48:23YTGFLT4:3:2435:32041:29459,LH00995:48:23YTGFLT4:4:1401:32430:15475,LH00995:48:23YTGFLT4:4:1410:29598:21724,LH00995:48:23YTGFLT4:4:1426:29283:12350,LH00995:48:23YTGFLT4:4:1498:9583:8356,LH00995:48:23YTGFLT4:4:2119:8815:23364,LH00995:48:23YTGFLT4:4:2360:6687:23602,LH00995:48:23YTGFLT4:4:2360:6695:23616,LH00995:48:23YTGFLT4:5:1163:48731:5624,LH00995:48:23YTGFLT4:5:1163:48731:5624,LH00995:48:23YTGFLT4:5:1306:39638:29417,LH00995:48:23YTGFLT4:5:1306:39638:29417,LH00995:48:23YTGFLT4:5:1313:33991:10977,LH00995:48:23YTGFLT4:5:1313:33991:10977,LH00995:48:23YTGFLT4:5:1389:49435:25283,LH00995:48:23YTGFLT4:5:1389:49435:25283,LH00995:48:23YTGFLT4:5:1389:49435:25283,LH00995:48:23YTGFLT4:5:1414:5547:22915,LH00995:48:23YTGFLT4:5:1495:31532:27820,LH00995:48:23YTGFLT4:5:2120:26823:26727,LH00995:48:23YTGFLT4:5:2137:33465:26544,LH00995:48:23YTGFLT4:5:2153:31192:16526,LH00995:48:23YTGFLT4:5:2153:31192:16526,LH00995:48:23YTGFLT4:5:2163:25408:10262,LH00995:48:23YTGFLT4:5:2169:5886:8819,LH00995:48:23YTGFLT4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:37987:20673,LH00995:48:23YTGFLT4:7:1155:37987:20673,LH00995:48:23YTGFLT4:7:1279:5822:18571,LH00995:48:23YTGFLT4:7:1337:32324:11369,LH00995:48:23YTGFLT4:7:1464:38343:1448,LH00995:48:23YTGFLT4:7:1464:38343:1448,LH00995:48:23YTGFLT4:7:2151:6703:13793,LH00995:48:23YTGFLT4:7:2233:50559:16161

MEX3A

-/-

chr1:156076635

chr1:156076647

CDS

duplication/ITD

559

677

medium

out-of-frame

KH_domain(100%),Zinc_finger__C3HC4_type_(RING_finger)(78%)|Zinc_finger__C3HC4_type_(RING_finger)(31%)

ENSG00000254726.3

ENST00000532414.3

upstream

downstream

duplicates(62)

GGCGCCCCCCGGGAGAGCCGCTCCAGGGCTTCTCTAAACTTGGTGGGGGCGGCCTGCGGAGCCCCGGCGGCGGGCGGGATTGCATGGTCTGCTTTGAGAGCGAAGTGACTGCCGCCCTTGTGCCCTGCGGACACAACCTGTTCTGCATGGAGTGTGCAGTACGCATCTGCGAGAGGAC|TCTGCGAGAGGACGGACCCAGAGTGTCCCGTCTGCCACATCACAGCCACGCAAGCCAT

RPPGEPLQGFSKLGGGGLRSPGGGRDCMVCFESEVTAALVPCGHNLFCMECAVRICERt|lredgprvsrlphhshas

LH00995:48:23YTGFLT4:1:1210:32802:9730,LH00995:48:23YTGFLT4:1:1293:2036:16357,LH00995:48:23YTGFLT4:1:1469:22430:23153,LH00995:48:23YTGFLT4:2:1406:14947:22747,LH00995:48:23YTGFLT4:2:2107:36175:1392,LH00995:48:23YTGFLT4:3:1244:44548:24863,LH00995:48:23YTGFLT4:3:1342:43966:17072,LH00995:48:23YTGFLT4:3:1342:43974:17058,LH00995:48:23YTGFLT4:3:1342:43982:17072,LH00995:48:23YTGFLT4:3:1342:43990:17058,LH00995:48:23YTGFLT4:4:1258:15004:16035,LH00995:48:23YTGFLT4:4:1327:29897:6633,LH00995:48:23YTGFLT4:4:2347:8880:12882,LH00995:48:23YTGFLT4:4:2494:33595:2303,LH00995:48:23YTGFLT4:4:2497:50673:20477,LH00995:48:23YTGFLT4:5:1381:33392:1252,LH00995:48:23YTGFLT4:5:2163:26200:25676,LH00995:48:23YTGFLT4:5:2401:10611:20869,LH00995:48:23YTGFLT4:6:1485:42534:10977,LH00995:48:23YTGFLT4:6:2171:22390:23924,LH00995:48:23YTGFLT4:6:2322:50576:14256,LH00995:48:23YTGFLT4:7:2135:34598:24443,LH00995:48:23YTGFLT4:7:2136:45422:26853,LH00995:48:23YTGFLT4:2:2243:45713:2892,LH00995:48:23YTGFLT4:4:2104:9575:20982,LH00995:48:23YTGFLT4:4:2215:27875:5736,LH00995:48:23YTGFLT4:5:1220:29008:26474,LH00995:48:23YTGFLT4:1:1137:28733:9604,LH00995:48:23YTGFLT4:1:1190:25828:22649,LH00995:48:23YTGFLT4:1:1190:25828:22649,LH00995:48:23YTGFLT4:1:1297:35471:19650,LH00995:48:23YTGFLT4:1:1365:11833:7067,LH00995:48:23YTGFLT4:1:2333:25925:4517,LH00995:48:23YTGFLT4:1:2338:12310:17535,LH00995:48:23YTGFLT4:1:2366:48585:15489,LH00995:48:23YTGFLT4:1:2366:48585:15489,LH00995:48:23YTGFLT4:1:2370:3872:28170,LH00995:48:23YTGFLT4:1:2488:7763:6773,LH00995:48:23YTGFLT4:2:1114:20230:4153,LH00995:48:23YTGFLT4:2:1114:20230:4153,LH00995:48:23YTGFLT4:2:1143:47194:8398,LH00995:48:23YTGFLT4:2:1385:49330:24821,LH00995:48:23YTGFLT4:2:1405:28943:17394,LH00995:48:23YTGFLT4:2:1405:28943:17394,LH00995:48:23YTGFLT4:2:2251:9794:22481,LH00995:48:23YTGFLT4:2:2260:34727:2808,LH00995:48:23YTGFLT4:2:2278:37907:27343,LH00995:48:23YTGFLT4:2:2278:37907:27343,LH00995:48:23YTGFLT4:2:2405:52072:28338,LH00995:48:23YTGFLT4:3:1142:51482:15937,LH00995:48:23YTGFLT4:3:1165:30860:28590,LH00995:48:23YTGFLT4:3:1336:10069:25423,LH00995:48:23YTGFLT4:3:1336:10069:25423,LH00995:48:23YTGFLT4:3:1348:21039:10430,LH00995:48:23YTGFLT4:3:1348:21039:10430,LH00995:48:23YTGFLT4:3:1453:16646:16021,LH00995:48:23YTGFLT4:3:1453:16646:16021,LH00995:48:23YTGFLT4:3:2132:22285:25507,LH00995:48:23YTGFLT4:3:2222:38182:22299,LH00995:48:23YTGFLT4:3:2326:13256:28926,LH00995:48:23YTGFLT4:3:2372:18296:12406,LH00995:48:23YTGFLT4:3:2372:18296:12406,LH00995:48:23YTGFLT4:4:1152:46522:22201,LH00995:48:23YTGFLT4:4:1212:27956:19692,LH00995:48:23YTGFLT4:4:1212:27972:19692,LH00995:48:23YTGFLT4:4:1218:46692:11341,LH00995:48:23YTGFLT4:4:1251:46539:2836,LH00995:48:23YTGFLT4:4:1415:48966:12280,LH00995:48:23YTGFLT4:4:1441:40714:18361,LH00995:48:23YTGFLT4:4:1449:35326:29179,LH00995:48:23YTGFLT4:4:1497:39800:18291,LH00995:48:23YTGFLT4:4:1497:39816:18291,LH00995:48:23YTGFLT4:4:2135:39452:25704,LH00995:48:23YTGFLT4:4:2143:30585:25311,LH00995:48:23YTGFLT4:4:2143:30585:25311,LH00995:48:23YTGFLT4:4:2390:49200:25746,LH00995:48:23YTGFLT4:4:2390:49200:25746,LH00995:48:23YTGFLT4:4:2406:39872:4545,LH00995:48:23YTGFLT4:4:2453:33069:24373,LH00995:48:23YTGFLT4:4:2453:33069:24373,LH00995:48:23YTGFLT4:4:2491:38974:12826,LH00995:48:23YTGFLT4:5:1130:17949:23602,LH00995:48:23YTGFLT4:5:1183:3702:5092,LH00995:48:23YTGFLT4:5:1410:14437:2527,LH00995:48:23YTGFLT4:5:1497:5166:12224,LH00995:48:23YTGFLT4:5:2441:35172:6913,LH00995:48:23YTGFLT4:6:1168:37356:14452,LH00995:48:23YTGFLT4:6:1340:5352:11089,LH00995:48:23YTGFLT4:6:1348:44848:5428,LH00995:48:23YTGFLT4:6:2315:7156:11383,LH00995:48:23YTGFLT4:6:2397:2068:2289,LH00995:48:23YTGFLT4:7:1153:4163:4489,LH00995:48:23YTGFLT4:7:1245:39897:11369,LH00995:48:23YTGFLT4:7:1245:39897:11369,LH00995:48:23YTGFLT4:7:1260:27139:27105,LH00995:48:23YTGFLT4:7:1316:24089:23616,LH00995:48:23YTGFLT4:7:1342:32478:24695,LH00995:48:23YTGFLT4:7:1429:6161:21710,LH00995:48:23YTGFLT4:7:1429:6161:21710,LH00995:48:23YTGFLT4:7:1437:48051:21066,LH00995:48:23YTGFLT4:7:2167:24542:11509,LH00995:48:23YTGFLT4:7:2179:27268:12140,LH00995:48:23YTGFLT4:7:2179:27268:12140,LH00995:48:23YTGFLT4:7:2217:6283:16512,LH00995:48:23YTGFLT4:7:2217:6283:16512

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

289

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253305.2

ENST00000611914.1

ENST00000520790.1

downstream

upstream

duplicates(103),low_entropy(1),mismappers(1)

CGCGGACTCGAGGAAGAGTCACCTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGT

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

LH00995:48:23YTGFLT4:1:1153:43561:2864,LH00995:48:23YTGFLT4:1:1171:1890:5568,LH00995:48:23YTGFLT4:1:1256:10077:26923,LH00995:48:23YTGFLT4:1:1344:45697:8497,LH00995:48:23YTGFLT4:1:2215:7100:23195,LH00995:48:23YTGFLT4:1:2221:45179:1070,LH00995:48:23YTGFLT4:1:2261:32300:10458,LH00995:48:23YTGFLT4:1:2330:26864:16315,LH00995:48:23YTGFLT4:1:2422:51352:27371,LH00995:48:23YTGFLT4:1:2484:26362:8693,LH00995:48:23YTGFLT4:1:2488:31507:5918,LH00995:48:23YTGFLT4:2:1144:7399:22873,LH00995:48:23YTGFLT4:2:1244:21071:20968,LH00995:48:23YTGFLT4:2:1307:34768:23252,LH00995:48:23YTGFLT4:2:1418:49330:4307,LH00995:48:23YTGFLT4:2:1418:49346:4307,LH00995:48:23YTGFLT4:2:1479:43133:7950,LH00995:48:23YTGFLT4:2:1489:21872:26390,LH00995:48:23YTGFLT4:2:2113:45544:3746,LH00995:48:23YTGFLT4:2:2163:40107:26334,LH00995:48:23YTGFLT4:2:2168:38796:23195,LH00995:48:23YTGFLT4:2:2184:42324:26895,LH00995:48:23YTGFLT4:2:2286:44217:28044,LH00995:48:23YTGFLT4:2:2383:4414:26923,LH00995:48:23YTGFLT4:2:2401:38343:17506,LH00995:48:23YTGFLT4:2:2461:44937:18529,LH00995:48:23YTGFLT4:3:1176:28652:24429,LH00995:48:23YTGFLT4:3:1191:30642:25914,LH00995:48:23YTGFLT4:3:1201:40576:8202,LH00995:48:23YTGFLT4:3:1207:37025:2836,LH00995:48:23YTGFLT4:3:1207:37033:2850,LH00995:48:23YTGFLT4:3:1217:49459:23924,LH00995:48:23YTGFLT4:3:1250:2044:23490,LH00995:48:23YTGFLT4:3:1286:29275:9954,LH00995:48:23YTGFLT4:3:1361:7286:24975,LH00995:48:23YTGFLT4:3:1375:13701:26811,LH00995:48:23YTGFLT4:3:1375:22892:28296,LH00995:48:23YTGFLT4:3:1402:45665:16904,LH00995:48:23YTGFLT4:3:2113:43828:25774,LH00995:48:23YTGFLT4:3:2135:8855:21360,LH00995:48:23YTGFLT4:3:2304:45883:11257,LH00995:48:23YTGFLT4:3:2337:24946:2597,LH00995:48:23YTGFLT4:3:2351:50754:4503,LH00995:48:23YTGFLT4:3:2402:46118:22060,LH00995:48:23YTGFLT4:4:1118:39144:1378,LH00995:48:23YTGFLT4:4:1134:8912:29053,LH00995:48:23YTGFLT4:4:1134:8920:29039,LH00995:48:23YTGFLT4:4:1298:16153:22509,LH00995:48:23YTGFLT4:4:1331:14551:5274,LH00995:48:23YTGFLT4:4:1343:42073:11383,LH00995:48:23YTGFLT4:4:1431:24906:11803,LH00995:48:23YTGFLT4:4:2188:10570:28983,LH00995:48:23YTGFLT4:4:2216:36653:9758,LH00995:48:23YTGFLT4:4:2246:37704:14830,LH00995:48:23YTGFLT4:4:2247:13709:22957,LH00995:48:23YTGFLT4:4:2259:27924:16666,LH00995:48:23YTGFLT4:4:2289:29825:24302,LH00995:48:23YTGFLT4:4:2364:20926:24415,LH00995:48:23YTGFLT4:5:1101:11768:22257,LH00995:48:23YTGFLT4:5:1182:5773:21766,LH00995:48:23YTGFLT4:5:1245:30876:24387,LH00995:48:23YTGFLT4:5:1309:24065:23322,LH00995:48:23YTGFLT4:5:1321:14551:29571,LH00995:48:23YTGFLT4:5:2103:4365:18291,LH00995:48:23YTGFLT4:5:2120:48286:6647,LH00995:48:23YTGFLT4:5:2122:25319:7866,LH00995:48:23YTGFLT4:5:2151:10101:12560,LH00995:48:23YTGFLT4:5:2236:46353:28184,LH00995:48:23YTGFLT4:5:2283:30423:11271,LH00995:48:23YTGFLT4:5:2331:29784:18571,LH00995:48:23YTGFLT4:5:2380:26128:15825,LH00995:48:23YTGFLT4:5:2386:3006:14396,LH00995:48:23YTGFLT4:5:2496:51554:7852,LH00995:48:23YTGFLT4:6:1381:14842:4629,LH00995:48:23YTGFLT4:6:1404:28142:16484,LH00995:48:23YTGFLT4:6:1422:25561:6717,LH00995:48:23YTGFLT4:6:1453:13402:9786,LH00995:48:23YTGFLT4:6:1453:13410:9800,LH00995:48:23YTGFLT4:6:1453:13418:9786,LH00995:48:23YTGFLT4:6:1453:13426:9800,LH00995:48:23YTGFLT4:6:2145:50333:6857,LH00995:48:23YTGFLT4:6:2145:50341:6871,LH00995:48:23YTGFLT4:6:2152:4042:16049,LH00995:48:23YTGFLT4:6:2305:27681:7642,LH00995:48:23YTGFLT4:6:2310:33603:24373,LH00995:48:23YTGFLT4:6:2402:35755:5764,LH00995:48:23YTGFLT4:6:2403:35819:2429,LH00995:48:23YTGFLT4:6:2448:16096:18011,LH00995:48:23YTGFLT4:6:2485:19405:22088,LH00995:48:23YTGFLT4:7:1109:15028:27203,LH00995:48:23YTGFLT4:7:1210:19995:28660,LH00995:48:23YTGFLT4:7:1234:31410:5890,LH00995:48:23YTGFLT4:7:1363:17665:27287,LH00995:48:23YTGFLT4:7:1404:13499:19174,LH00995:48:23YTGFLT4:7:2219:14559:12546,LH00995:48:23YTGFLT4:1:1288:17083:7670,LH00995:48:23YTGFLT4:1:1436:15279:8777,LH00995:48:23YTGFLT4:1:1456:49427:17703,LH00995:48:23YTGFLT4:1:2212:30367:2738,LH00995:48:23YTGFLT4:1:2218:7860:11061,LH00995:48:23YTGFLT4:1:2224:5506:1266,LH00995:48:23YTGFLT4:1:2224:5522:1266,LH00995:48:23YTGFLT4:1:2271:7933:3957,LH00995:48:23YTGFLT4:1:2293:23749:12714,LH00995:48:23YTGFLT4:1:2377:21314:27385,LH00995:48:23YTGFLT4:1:2377:21322:27399,LH00995:48:23YTGFLT4:1:2480:45891:16119,LH00995:48:23YTGFLT4:2:1189:44815:15236,LH00995:48:23YTGFLT4:2:1210:26783:5162,LH00995:48:23YTGFLT4:2:1279:32041:17773,LH00995:48:23YTGFLT4:2:1482:22989:25998,LH00995:48:23YTGFLT4:2:2132:24380:14508,LH00995:48:23YTGFLT4:2:2345:41636:15110,LH00995:48:23YTGFLT4:2:2475:24987:11215,LH00995:48:23YTGFLT4:3:1410:6056:10318,LH00995:48:23YTGFLT4:3:1497:2181:5204,LH00995:48:23YTGFLT4:3:2235:44031:17857,LH00995:48:23YTGFLT4:3:2375:8831:26979,LH00995:48:23YTGFLT4:3:2488:45042:28016,LH00995:48:23YTGFLT4:3:2488:45050:28030,LH00995:48:23YTGFLT4:4:1315:30027:22018,LH00995:48:23YTGFLT4:4:1344:36903:7558,LH00995:48:23YTGFLT4:4:2215:50050:28030,LH00995:48:23YTGFLT4:5:1208:32891:21570,LH00995:48:23YTGFLT4:5:1408:1736:29039,LH00995:48:23YTGFLT4:5:1408:1744:29053,LH00995:48:23YTGFLT4:5:1408:1752:29067,LH00995:48:23YTGFLT4:5:1472:27851:3676,LH00995:48:23YTGFLT4:5:2122:30173:5792,LH00995:48:23YTGFLT4:5:2208:35989:19034,LH00995:48:23YTGFLT4:5:2403:40204:7838,LH00995:48:23YTGFLT4:5:2481:31677:19664,LH00995:48:23YTGFLT4:5:2498:20901:2513,LH00995:48:23YTGFLT4:6:1113:26257:27876,LH00995:48:23YTGFLT4:6:1164:30561:2681,LH00995:48:23YTGFLT4:6:1193:23320:5946,LH00995:48:23YTGFLT4:6:1193:23328:5932,LH00995:48:23YTGFLT4:6:1382:41790:2317,LH00995:48:23YTGFLT4:6:1397:2165:13359,LH00995:48:23YTGFLT4:6:2356:51781:16315,LH00995:48:23YTGFLT4:6:2486:10328:27441,LH00995:48:23YTGFLT4:7:1155:30253:28408,LH00995:48:23YTGFLT4:7:1175:14664:23490,LH00995:48:23YTGFLT4:7:1298:23094:11215,LH00995:48:23YTGFLT4:7:2127:18175:11215,LH00995:48:23YTGFLT4:7:2160:39088:2709,LH00995:48:23YTGFLT4:7:2175:9317:21346

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

289

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000242419.5

ENST00000611914.1

ENST00000306593.1

downstream

upstream

duplicates(103),low_entropy(1),mismappers(1)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

289

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253846.2

ENST00000611914.1

ENST00000398610.2

downstream

upstream

duplicates(103),low_entropy(1),mismappers(1)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

289

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000240764.4

ENST00000611914.1

ENST00000252087.3

downstream

upstream

duplicates(103),low_entropy(1),mismappers(1)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

289

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253767.3

ENST00000611914.1

ENST00000398604.3

downstream

upstream

duplicates(103),low_entropy(1),mismappers(1)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

289

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253873.6

ENST00000611914.1

ENST00000398587.7

downstream

upstream

duplicates(103),low_entropy(1),mismappers(1)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

289

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000254122.3

ENST00000611914.1

ENST00000398594.4

downstream

upstream

duplicates(103),low_entropy(1),mismappers(1)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

289

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000240184.7

ENST00000611914.1

ENST00000308177.5

downstream

upstream

duplicates(103),low_entropy(1),mismappers(1)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

289

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000261934.2

ENST00000611914.1

ENST00000573521.1

downstream

upstream

duplicates(103),low_entropy(1),mismappers(1)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

289

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253159.3

ENST00000611914.1

ENST00000252085.4

downstream

upstream

duplicates(103),low_entropy(1),mismappers(1)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA

ERCC1

EXOC3L2

-/-

chr19:45416821

chr19:45228266

CDS/splice-site

deletion/read-through

3793

971

medium

out-of-frame

Binding_domain_of_DNA_repair_protein_Ercc1_(rad10/Swi10)(88%)|Exocyst_complex_component_Sec6(68%)

ENSG00000012061.16

ENSG00000283632.4

ENST00000423698.6

ENST00000413988.3

upstream

downstream

duplicates(86)

GGAAGAACTTCGCCTTGCGGGTCCTGCTTGTCCAGGTGGATGTG___AAAGATCCCCAGCAGGCCCTCAAGGAGCTGGCTAAGATGTGTATCCTGGCCGACTGCACATTGATCCTCGCCTGGAG|GCTCAGACCCGGGCTGCCCTTCTCCGTGTGCTGCAGGAGGACGAAGAGCACTGGGGGAGCCTGGAGGACCAGCCCAGCAGCCTGGCCCAGGATGTGTGTGAG___CTGCTGGAAGAGCACACAGAGCGAGCACCCCGCATCAGCCAGGAGTTTGGGGAGCGGATGGCC

KNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWr|lrpglpfsvccrrtkstggawrtspaawprmcvscwkstqsehpasarslgsgw

LH00995:48:23YTGFLT4:1:1125:40746:6591,LH00995:48:23YTGFLT4:1:1155:34897:22719,LH00995:48:23YTGFLT4:1:1175:5692:5568,LH00995:48:23YTGFLT4:1:1230:22422:5232,LH00995:48:23YTGFLT4:1:1358:24040:3466,LH00995:48:23YTGFLT4:1:1364:32276:27399,LH00995:48:23YTGFLT4:1:1403:51457:12644,LH00995:48:23YTGFLT4:1:1423:14729:3060,LH00995:48:23YTGFLT4:1:1468:47323:19524,LH00995:48:23YTGFLT4:1:2171:8588:12266,LH00995:48:23YTGFLT4:1:2332:40592:12658,LH00995:48:23YTGFLT4:1:2340:11436:17422,LH00995:48:23YTGFLT4:1:2362:32721:26488,LH00995:48:23YTGFLT4:1:2386:20238:13219,LH00995:48:23YTGFLT4:1:2434:23935:26460,LH00995:48:23YTGFLT4:2:1111:7270:14606,LH00995:48:23YTGFLT4:2:1111:7278:14592,LH00995:48:23YTGFLT4:2:1237:35908:15839,LH00995:48:23YTGFLT4:2:2119:36022:14101,LH00995:48:23YTGFLT4:2:2130:51740:29361,LH00995:48:23YTGFLT4:2:2137:11388:27763,LH00995:48:23YTGFLT4:2:2178:48181:26699,LH00995:48:23YTGFLT4:2:2221:24081:2920,LH00995:48:23YTGFLT4:2:2273:8281:10809,LH00995:48:23YTGFLT4:3:1173:6153:4209,LH00995:48:23YTGFLT4:3:1241:12059:23350,LH00995:48:23YTGFLT4:3:1256:31249:17268,LH00995:48:23YTGFLT4:3:1267:7504:16133,LH00995:48:23YTGFLT4:3:1367:5708:18768,LH00995:48:23YTGFLT4:3:1429:38416:21808,LH00995:48:23YTGFLT4:3:2298:34104:17310,LH00995:48:23YTGFLT4:4:1109:49556:27735,LH00995:48:23YTGFLT4:4:1209:38093:20827,LH00995:48:23YTGFLT4:4:1245:28611:16596,LH00995:48:23YTGFLT4:4:1289:50608:21430,LH00995:48:23YTGFLT4:4:2186:19397:12238,LH00995:48:23YTGFLT4:4:2221:23644:4937,LH00995:48:23YTGFLT4:4:2253:8572:28436,LH00995:48:23YTGFLT4:4:2253:8580:28450,LH00995:48:23YTGFLT4:4:2271:10481:27511,LH00995:48:23YTGFLT4:4:2319:4867:12490,LH00995:48:23YTGFLT4:5:1249:28733:14031,LH00995:48:23YTGFLT4:5:1277:39444:19524,LH00995:48:23YTGFLT4:5:1493:32244:11509,LH00995:48:23YTGFLT4:5:2393:25092:29697,LH00995:48:23YTGFLT4:5:2429:36127:24653,LH00995:48:23YTGFLT4:6:1209:40576:24765,LH00995:48:23YTGFLT4:6:1209:40584:24751,LH00995:48:23YTGFLT4:6:1384:26241:24569,LH00995:48:23YTGFLT4:6:1384:26249:24583,LH00995:48:23YTGFLT4:6:2168:39379:27399,LH00995:48:23YTGFLT4:6:2271:27123:4433,LH00995:48:23YTGFLT4:6:2280:23094:23546,LH00995:48:23YTGFLT4:6:2378:33845:20141,LH00995:48:23YTGFLT4:7:1285:21743:7782,LH00995:48:23YTGFLT4:7:1367:50074:15377,LH00995:48:23YTGFLT4:7:1377:26750:29179,LH00995:48:23YTGFLT4:7:1377:26767:29179,LH00995:48:23YTGFLT4:7:1383:40382:4363,LH00995:48:23YTGFLT4:7:2174:41110:24176,LH00995:48:23YTGFLT4:7:2189:30197:10290,LH00995:48:23YTGFLT4:1:1191:26119:24639,LH00995:48:23YTGFLT4:1:1220:4042:4559,LH00995:48:23YTGFLT4:1:1313:21330:19370,LH00995:48:23YTGFLT4:1:1408:31289:12995,LH00995:48:23YTGFLT4:1:1463:8694:22481,LH00995:48:23YTGFLT4:1:1496:29161:19706,LH00995:48:23YTGFLT4:1:2277:24623:14424,LH00995:48:23YTGFLT4:1:2343:23838:26600,LH00995:48:23YTGFLT4:1:2343:23846:26586,LH00995:48:23YTGFLT4:1:2386:51975:5470,LH00995:48:23YTGFLT4:1:2386:51983:5484,LH00995:48:23YTGFLT4:1:2386:51991:5470,LH00995:48:23YTGFLT4:1:2454:25691:2934,LH00995:48:23YTGFLT4:2:1138:11015:21570,LH00995:48:23YTGFLT4:2:1213:22026:25592,LH00995:48:23YTGFLT4:2:1232:18911:14452,LH00995:48:23YTGFLT4:2:1232:18927:14452,LH00995:48:23YTGFLT4:2:1306:8135:21542,LH00995:48:23YTGFLT4:2:1445:22317:25255,LH00995:48:23YTGFLT4:2:2186:14268:13191,LH00995:48:23YTGFLT4:2:2249:50632:9449,LH00995:48:23YTGFLT4:2:2323:41377:4461,LH00995:48:23YTGFLT4:2:2389:41798:21724,LH00995:48:23YTGFLT4:3:1175:22625:16960,LH00995:48:23YTGFLT4:3:1175:22633:16946,LH00995:48:23YTGFLT4:3:1341:19567:12840,LH00995:48:23YTGFLT4:3:2173:16322:24148,LH00995:48:23YTGFLT4:3:2228:10538:6227,LH00995:48:23YTGFLT4:3:2255:16929:15503,LH00995:48:23YTGFLT4:3:2369:28611:2667,LH00995:48:23YTGFLT4:4:1169:42024:6731,LH00995:48:23YTGFLT4:4:2241:16759:6072,LH00995:48:23YTGFLT4:4:2281:22997:12952,LH00995:48:23YTGFLT4:5:1105:44241:5330,LH00995:48:23YTGFLT4:5:1274:22269:19959,LH00995:48:23YTGFLT4:5:1413:14866:28660,LH00995:48:23YTGFLT4:5:1453:20909:5498,LH00995:48:23YTGFLT4:5:2135:34565:26068,LH00995:48:23YTGFLT4:5:2332:40487:7376,LH00995:48:23YTGFLT4:5:2453:6056:29431,LH00995:48:23YTGFLT4:6:1233:19809:2107,LH00995:48:23YTGFLT4:6:1304:8160:21192,LH00995:48:23YTGFLT4:6:1349:44662:29403,LH00995:48:23YTGFLT4:6:1359:29817:8006,LH00995:48:23YTGFLT4:6:1432:16387:20057,LH00995:48:23YTGFLT4:6:1432:16395:20043,LH00995:48:23YTGFLT4:6:1459:38441:9351,LH00995:48:23YTGFLT4:6:2382:50640:10136,LH00995:48:23YTGFLT4:7:1233:1777:19889,LH00995:48:23YTGFLT4:7:1233:1793:19889,LH00995:48:23YTGFLT4:7:1256:15716:9926,LH00995:48:23YTGFLT4:7:1290:15255:12350,LH00995:48:23YTGFLT4:7:1290:15271:12350,LH00995:48:23YTGFLT4:7:1403:21136:28926,LH00995:48:23YTGFLT4:7:1404:14753:6100,LH00995:48:23YTGFLT4:7:1464:44403:14914,LH00995:48:23YTGFLT4:7:2146:12601:7642,LH00995:48:23YTGFLT4:7:2233:28021:16273,LH00995:48:23YTGFLT4:7:2292:43893:18684,LH00995:48:23YTGFLT4:1:2222:18369:23770,LH00995:48:23YTGFLT4:1:2222:18385:23770,LH00995:48:23YTGFLT4:3:2182:38562:1434,LH00995:48:23YTGFLT4:5:1398:10862:25423,LH00995:48:23YTGFLT4:7:1220:20602:26096,LH00995:48:23YTGFLT4:7:1220:20618:26096

ERCC1

EXOC3L2

-/-

chr19:45419098

chr19:45228266

CDS/splice-site

deletion/read-through

2564

971

low

in-frame

Binding_domain_of_DNA_repair_protein_Ercc1_(rad10/Swi10)(66%)|Exocyst_complex_component_Sec6(68%)

ENSG00000012061.16

ENSG00000283632.4

ENST00000423698.6

ENST00000413988.3

upstream

downstream

GCAGAGCCTGGGGAAGAACTTCGCCTTGCGGGTCCTGCTTGTCCAGGTGGATGTG|GCTCAGACCCGGGCTGCCCTTCTCCGTGTGCTGC

QSLGKNFALRVLLVQVDV|AQTRAALLRVL

LH00995:48:23YTGFLT4:1:1124:16185:24330

NPIPA3

+/+

chr16:14726287

chr16:14726229

CDS

duplication/ITD

507

538

medium

out-of-frame

Nuclear_pore_complex_interacting_protein_(NPIP)(100%)|

ENSG00000224712.12

ENST00000531598.6

downstream

upstream

duplicates(221)

ATCTCAAGACACCTCCCGAGTGTCTGtTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGTGGATGATAATCTCAAGACACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGA|CACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCG

LKTPPECLfTPLPPSAPPSVDDNLKTPPeCVCSLPFHPQRMIISR|hlpsvsahspstls

LH00995:48:23YTGFLT4:5:2262:13637:1645,LH00995:48:23YTGFLT4:5:2262:13637:1645,LH00995:48:23YTGFLT4:5:2262:13637:1645,LH00995:48:23YTGFLT4:5:2262:13637:1645,LH00995:48:23YTGFLT4:5:2262:13637:1645,LH00995:48:23YTGFLT4:5:2262:13637:1645,LH00995:48:23YTGFLT4:5:2262:13637:1645,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:6:1221:14025:6605,LH00995:48:23YTGFLT4:1:1168:22681:27259,LH00995:48:23YTGFLT4:1:1168:22681:27259,LH00995:48:23YTGFLT4:1:1168:22681:27259,LH00995:48:23YTGFLT4:1:1225:44395:28436,LH00995:48:23YTGFLT4:1:1225:44395:28436,LH00995:48:23YTGFLT4:1:1259:11978:8609,LH00995:48:23YTGFLT4:1:1259:11978:8609,LH00995:48:23YTGFLT4:1:1259:11978:8609,LH00995:48:23YTGFLT4:1:1306:37421:26054,LH00995:48:23YTGFLT4:1:1306:37421:26054,LH00995:48:23YTGFLT4:1:1306:37421:26054,LH00995:48:23YTGFLT4:1:1340:25100:15279,LH00995:48:23YTGFLT4:1:1340:25100:15279,LH00995:48:23YTGFLT4:1:1349:21427:2107,LH00995:48:23YTGFLT4:1:1349:21427:2107,LH00995:48:23YTGFLT4:1:1349:21427:2107,LH00995:48:23YTGFLT4:1:1423:41733:28002,LH00995:48:23YTGFLT4:1:1423:41733:28002,LH00995:48:23YTGFLT4:1:1423:41733:28002,LH00995:48:23YTGFLT4:1:1423:41733:28002,LH00995:48:23YTGFLT4:1:1450:51061:17759,LH00995:48:23YTGFLT4:1:1450:51061:17759,LH00995:48:23YTGFLT4:1:1450:51061:17759,LH00995:48:23YTGFLT4:1:1460:42364:3564,LH00995:48:23YTGFLT4:1:1460:42364:3564,LH00995:48:23YTGFLT4:1:1460:42364:3564,LH00995:48:23YTGFLT4:1:2101:24178:14130,LH00995:48:23YTGFLT4:1:2101:24178:14130,LH00995:48:23YTGFLT4:1:2101:24178:14130,LH00995:48:23YTGFLT4:1:2101:24178:14130,LH00995:48:23YTGFLT4:1:2123:10134:20155,LH00995:48:23YTGFLT4:1:2123:10134:20155,LH00995:48:23YTGFLT4:1:2123:10134:20155,LH00995:48:23YTGFLT4:1:2123:10150:20155,LH00995:48:23YTGFLT4:1:2123:10150:20155,LH00995:48:23YTGFLT4:1:2123:10150:20155,LH00995:48:23YTGFLT4:1:2330:42138:21332,LH00995:48:23YTGFLT4:1:2330:42138:21332,LH00995:48:23YTGFLT4:1:2330:42138:21332,LH00995:48:23YTGFLT4:1:2330:42138:21332,LH00995:48:23YTGFLT4:1:2380:32769:10430,LH00995:48:23YTGFLT4:1:2380:32769:10430,LH00995:48:23YTGFLT4:1:2380:32769:10430,LH00995:48:23YTGFLT4:1:2425:38020:15040,LH00995:48:23YTGFLT4:1:2425:38020:15040,LH00995:48:23YTGFLT4:1:2425:38020:15040,LH00995:48:23YTGFLT4:1:2462:15821:26306,LH00995:48:23YTGFLT4:1:2462:15821:26306,LH00995:48:23YTGFLT4:1:2462:15821:26306,LH00995:48:23YTGFLT4:2:1121:36289:9099,LH00995:48:23YTGFLT4:2:1121:36289:9099,LH00995:48:23YTGFLT4:2:1121:36289:9099,LH00995:48:23YTGFLT4:2:1146:46603:14494,LH00995:48:23YTGFLT4:2:1146:46603:14494,LH00995:48:23YTGFLT4:2:1146:46603:14494,LH00995:48:23YTGFLT4:2:1177:30156:15937,LH00995:48:23YTGFLT4:2:1177:30156:15937,LH00995:48:23YTGFLT4:2:1236:25448:16666,LH00995:48:23YTGFLT4:2:1236:25448:16666,LH00995:48:23YTGFLT4:2:1236:25448:16666,LH00995:48:23YTGFLT4:2:1236:25448:16666,LH00995:48:23YTGFLT4:2:1302:37648:6605,LH00995:48:23YTGFLT4:2:1302:37648:6605,LH00995:48:23YTGFLT4:2:2122:9850:21878,LH00995:48:23YTGFLT4:2:2180:26629:29193,LH00995:48:23YTGFLT4:2:2180:26629:29193,LH00995:48:23YTGFLT4:2:2180:26629:29193,LH00995:48:23YTGFLT4:2:2293:6275:1364,LH00995:48:23YTGFLT4:2:2293:6275:1364,LH00995:48:23YTGFLT4:2:2293:6275:1364,LH00995:48:23YTGFLT4:2:2322:41555:28955,LH00995:48:23YTGFLT4:2:2322:41555:28955,LH00995:48:23YTGFLT4:2:2322:41555:28955,LH00995:48:23YTGFLT4:2:2473:30941:12784,LH00995:48:23YTGFLT4:2:2473:30941:12784,LH00995:48:23YTGFLT4:2:2473:30941:12784,LH00995:48:23YTGFLT4:3:1176:47404:11481,LH00995:48:23YTGFLT4:3:1176:47404:11481,LH00995:48:23YTGFLT4:3:1176:47404:11481,LH00995:48:23YTGFLT4:3:1271:13345:12042,LH00995:48:23YTGFLT4:3:1271:13345:12042,LH00995:48:23YTGFLT4:3:1271:13345:12042,LH00995:48:23YTGFLT4:3:1422:22576:6227,LH00995:48:23YTGFLT4:3:1422:22576:6227,LH00995:48:23YTGFLT4:3:1422:22576:6227,LH00995:48:23YTGFLT4:3:1444:51449:9463,LH00995:48:23YTGFLT4:3:1444:51449:9463,LH00995:48:23YTGFLT4:3:1444:51449:9463,LH00995:48:23YTGFLT4:3:1496:17981:7824,LH00995:48:23YTGFLT4:3:1496:17981:7824,LH00995:48:23YTGFLT4:3:1496:17981:7824,LH00995:48:23YTGFLT4:3:2115:17625:4013,LH00995:48:23YTGFLT4:3:2115:17625:4013,LH00995:48:23YTGFLT4:3:2187:48626:2135,LH00995:48:23YTGFLT4:3:2187:48626:2135,LH00995:48:23YTGFLT4:3:2187:48626:2135,LH00995:48:23YTGFLT4:3:2195:19623:4671,LH00995:48:23YTGFLT4:3:2195:19623:4671,LH00995:48:23YTGFLT4:3:2402:50195:17016,LH00995:48:23YTGFLT4:3:2402:50195:17016,LH00995:48:23YTGFLT4:3:2402:50195:17016,LH00995:48:23YTGFLT4:3:2493:38691:10262,LH00995:48:23YTGFLT4:3:2493:38691:10262,LH00995:48:23YTGFLT4:3:2493:38691:10262,LH00995:48:23YTGFLT4:4:1133:33667:23027,LH00995:48:23YTGFLT4:4:1133:33667:23027,LH00995:48:23YTGFLT4:4:1133:33667:23027,LH00995:48:23YTGFLT4:4:1133:50025:4811,LH00995:48:23YTGFLT4:4:1133:50025:4811,LH00995:48:23YTGFLT4:4:1150:30650:13317,LH00995:48:23YTGFLT4:4:1150:30650:13317,LH00995:48:23YTGFLT4:4:1150:30650:13317,LH00995:48:23YTGFLT4:4:1150:30650:13317,LH00995:48:23YTGFLT4:4:1233:10805:10528,LH00995:48:23YTGFLT4:4:1233:10805:10528,LH00995:48:23YTGFLT4:4:1233:10805:10528,LH00995:48:23YTGFLT4:4:1251:5595:15349,LH00995:48:23YTGFLT4:4:1251:5595:15349,LH00995:48:23YTGFLT4:4:1251:5595:15349,LH00995:48:23YTGFLT4:4:1314:18337:23434,LH00995:48:23YTGFLT4:4:1314:18337:23434,LH00995:48:23YTGFLT4:4:1326:15780:7796,LH00995:48:23YTGFLT4:4:1326:15780:7796,LH00995:48:23YTGFLT4:4:1409:50495:24401,LH00995:48:23YTGFLT4:4:1409:50495:24401,LH00995:48:23YTGFLT4:4:1409:50495:24401,LH00995:48:23YTGFLT4:4:1433:44775:21892,LH00995:48:23YTGFLT4:4:1433:44775:21892,LH00995:48:23YTGFLT4:4:1433:44775:21892,LH00995:48:23YTGFLT4:4:1433:44775:21892,LH00995:48:23YTGFLT4:4:1445:33910:13583,LH00995:48:23YTGFLT4:4:1445:33910:13583,LH00995:48:23YTGFLT4:4:1496:30270:4615,LH00995:48:23YTGFLT4:4:1496:30270:4615,LH00995:48:23YTGFLT4:4:1496:30270:4615,LH00995:48:23YTGFLT4:4:2133:35925:10430,LH00995:48:23YTGFLT4:4:2133:35925:10430,LH00995:48:23YTGFLT4:4:2133:35925:10430,LH00995:48:23YTGFLT4:4:2188:39913:18964,LH00995:48:23YTGFLT4:4:2188:39913:18964,LH00995:48:23YTGFLT4:4:2188:39913:18964,LH00995:48:23YTGFLT4:4:2196:44953:16904,LH00995:48:23YTGFLT4:4:2196:44953:16904,LH00995:48:23YTGFLT4:4:2196:44953:16904,LH00995:48:23YTGFLT4:4:2260:36038:16119,LH00995:48:23YTGFLT4:4:2260:36038:16119,LH00995:48:23YTGFLT4:4:2389:33069:18487,LH00995:48:23YTGFLT4:4:2389:33069:18487,LH00995:48:23YTGFLT4:4:2423:36216:5162,LH00995:48:23YTGFLT4:4:2423:36216:5162,LH00995:48:23YTGFLT4:4:2423:36216:5162,LH00995:48:23YTGFLT4:4:2472:50567:25536,LH00995:48:23YTGFLT4:4:2472:50567:25536,LH00995:48:23YTGFLT4:4:2472:50567:25536,LH00995:48:23YTGFLT4:5:1118:39072:18319,LH00995:48:23YTGFLT4:5:1118:39072:18319,LH00995:48:23YTGFLT4:5:1118:39072:18319,LH00995:48:23YTGFLT4:5:1142:4956:4433,LH00995:48:23YTGFLT4:5:1142:4956:4433,LH00995:48:23YTGFLT4:5:1142:4956:4433,LH00995:48:23YTGFLT4:5:1142:4964:4419,LH00995:48:23YTGFLT4:5:1142:4964:4419,LH00995:48:23YTGFLT4:5:1142:4964:4419,LH00995:48:23YTGFLT4:5:1319:8831:1476,LH00995:48:23YTGFLT4:5:1319:8831:1476,LH00995:48:23YTGFLT4:5:1319:8831:1476,LH00995:48:23YTGFLT4:5:1393:35730:9421,LH00995:48:23YTGFLT4:5:1393:35730:9421,LH00995:48:23YTGFLT4:5:1393:35730:9421,LH00995:48:23YTGFLT4:5:2209:30828:4069,LH00995:48:23YTGFLT4:5:2209:30828:4069,LH00995:48:23YTGFLT4:5:2209:30828:4069,LH00995:48:23YTGFLT4:5:2209:30828:4069,LH00995:48:23YTGFLT4:5:2220:34226:6255,LH00995:48:23YTGFLT4:5:2220:34226:6255,LH00995:48:23YTGFLT4:5:2367:30706:5820,LH00995:48:23YTGFLT4:5:2367:30706:5820,LH00995:48:23YTGFLT4:5:2367:30706:5820,LH00995:48:23YTGFLT4:5:2449:48812:26278,LH00995:48:23YTGFLT4:5:2449:48812:26278,LH00995:48:23YTGFLT4:5:2449:48812:26278,LH00995:48:23YTGFLT4:5:2449:48812:26278,LH00995:48:23YTGFLT4:5:2494:39549:23490,LH00995:48:23YTGFLT4:5:2494:39549:23490,LH00995:48:23YTGFLT4:5:2494:39549:23490,LH00995:48:23YTGFLT4:6:1159:46644:22103,LH00995:48:23YTGFLT4:6:1159:46644:22103,LH00995:48:23YTGFLT4:6:1223:4187:7221,LH00995:48:23YTGFLT4:6:1223:4187:7221,LH00995:48:23YTGFLT4:6:1449:26937:28044,LH00995:48:23YTGFLT4:6:1449:26937:28044,LH00995:48:23YTGFLT4:6:1449:26937:28044,LH00995:48:23YTGFLT4:6:1449:26937:28044,LH00995:48:23YTGFLT4:6:2112:42655:23826,LH00995:48:23YTGFLT4:6:2112:42655:23826,LH00995:48:23YTGFLT4:6:2112:42655:23826,LH00995:48:23YTGFLT4:6:2294:42291:3102,LH00995:48:23YTGFLT4:6:2294:42291:3102,LH00995:48:23YTGFLT4:7:1168:31046:1112,LH00995:48:23YTGFLT4:7:1168:31046:1112,LH00995:48:23YTGFLT4:7:1168:31046:1112,LH00995:48:23YTGFLT4:7:1168:31054:1126,LH00995:48:23YTGFLT4:7:1168:31054:1126,LH00995:48:23YTGFLT4:7:1168:31054:1126,LH00995:48:23YTGFLT4:7:1393:14769:8679,LH00995:48:23YTGFLT4:7:1393:14769:8679,LH00995:48:23YTGFLT4:7:1467:46595:28997,LH00995:48:23YTGFLT4:7:1467:46595:28997,LH00995:48:23YTGFLT4:7:1467:46595:28997,LH00995:48:23YTGFLT4:7:2178:44597:3424,LH00995:48:23YTGFLT4:7:2178:44597:3424,LH00995:48:23YTGFLT4:7:2178:44597:3424,LH00995:48:23YTGFLT4:7:2229:17415:15587,LH00995:48:23YTGFLT4:7:2229:17415:15587,LH00995:48:23YTGFLT4:7:2229:17415:15587,LH00995:48:23YTGFLT4:7:2229:17415:15587,LH00995:48:23YTGFLT4:4:1294:50260:2920,LH00995:48:23YTGFLT4:4:1294:50260:2920,LH00995:48:23YTGFLT4:4:1294:50260:2920,LH00995:48:23YTGFLT4:4:1294:50260:2920,LH00995:48:23YTGFLT4:4:2376:33287:12140,LH00995:48:23YTGFLT4:4:2376:33287:12140,LH00995:48:23YTGFLT4:4:2376:33287:12140,LH00995:48:23YTGFLT4:5:2426:3799:2065,LH00995:48:23YTGFLT4:5:2426:3799:2065,LH00995:48:23YTGFLT4:5:2426:3799:2065,LH00995:48:23YTGFLT4:5:2426:3799:2065,LH00995:48:23YTGFLT4:5:2442:22608:23378,LH00995:48:23YTGFLT4:5:2442:22608:23378,LH00995:48:23YTGFLT4:5:2442:22608:23378

CST9

CST9L

-/-

chr20:23603621

chr20:23565037

CDS

CDS/splice-site

deletion/read-through

922

176

medium

in-frame

Cathelicidin(100%)|Cystatin_domain(15%)

ENSG00000173335.5

ENSG00000101435.5

ENST00000376971.4

ENST00000376979.4

upstream

downstream

duplicates(30),low_entropy(1),mismappers(3)

TGGACAGAAAG___TGGCGAGGTAAGATGGTGTTCTCCATGAATCTGCAACTGCGCCAAACCGTATGTAGGAAATTTGAAGATGACATTGACAACTGCCCTTTTCAAGAAAGCCTGGAGCTGAACAAC|ACTTTCACCTGCTTCTTCACCATCAGCACCAGGCCCTGGATGACTCAGTTCAGCCTCCTGAACAAGACCTGCTTGGAGGGATTCCACTGAGTGAAACCCACTCACAGGCTTGTCCATGTGCTGCTCCCACATTCCGTGG

DRKWRGKMVFSMNLQLRQTVCRKFEDDIDNCPFQESLELNN|TFTCFFTISTRPWMTQFSLLNKTCLEGFH*

LH00995:48:23YTGFLT4:1:2382:13345:26250,LH00995:48:23YTGFLT4:2:1339:26791:12770,LH00995:48:23YTGFLT4:2:1417:7901:17745,LH00995:48:23YTGFLT4:2:2187:41741:12322,LH00995:48:23YTGFLT4:2:2248:8977:4475,LH00995:48:23YTGFLT4:3:1317:5126:9435,LH00995:48:23YTGFLT4:3:1430:23425:15208,LH00995:48:23YTGFLT4:3:2154:41256:23952,LH00995:48:23YTGFLT4:4:2124:38974:14031,LH00995:48:23YTGFLT4:4:2320:11315:8497,LH00995:48:23YTGFLT4:4:2375:12852:11467,LH00995:48:23YTGFLT4:4:2397:8038:16750,LH00995:48:23YTGFLT4:4:2489:25780:12700,LH00995:48:23YTGFLT4:5:1217:17107:7320,LH00995:48:23YTGFLT4:5:1260:33409:3971,LH00995:48:23YTGFLT4:5:1423:40099:25956,LH00995:48:23YTGFLT4:5:2214:17754:24050,LH00995:48:23YTGFLT4:5:2343:50519:26516,LH00995:48:23YTGFLT4:5:2380:11234:16680,LH00995:48:23YTGFLT4:5:2474:25375:7151,LH00995:48:23YTGFLT4:5:2474:25391:7151,LH00995:48:23YTGFLT4:6:1186:35067:19342,LH00995:48:23YTGFLT4:6:2358:30666:21052,LH00995:48:23YTGFLT4:7:1208:22924:12995,LH00995:48:23YTGFLT4:7:1240:35107:28436,LH00995:48:23YTGFLT4:7:2136:11905:5708,LH00995:48:23YTGFLT4:1:1138:43683:23616,LH00995:48:23YTGFLT4:1:1245:32956:29473,LH00995:48:23YTGFLT4:1:2312:14405:23406,LH00995:48:23YTGFLT4:2:1277:46959:21080,LH00995:48:23YTGFLT4:2:1377:28393:8931,LH00995:48:23YTGFLT4:2:1377:28401:8917,LH00995:48:23YTGFLT4:3:1158:36539:21696,LH00995:48:23YTGFLT4:3:1315:10813:3004,LH00995:48:23YTGFLT4:3:1434:50519:26544,LH00995:48:23YTGFLT4:3:1434:50527:26530,LH00995:48:23YTGFLT4:3:1434:50527:26558,LH00995:48:23YTGFLT4:3:1434:50535:26544,LH00995:48:23YTGFLT4:3:1434:50543:26558,LH00995:48:23YTGFLT4:3:2237:42971:12770,LH00995:48:23YTGFLT4:3:2316:2537:22915,LH00995:48:23YTGFLT4:3:2323:9454:7460,LH00995:48:23YTGFLT4:3:2325:44314:6913,LH00995:48:23YTGFLT4:3:2366:26427:3480,LH00995:48:23YTGFLT4:3:2404:10304:11425,LH00995:48:23YTGFLT4:4:1242:7763:25634,LH00995:48:23YTGFLT4:4:1242:7771:25620,LH00995:48:23YTGFLT4:4:1495:44516:1631,LH00995:48:23YTGFLT4:4:2170:43578:3901,LH00995:48:23YTGFLT4:5:1171:20537:21976,LH00995:48:23YTGFLT4:5:1224:20570:14550,LH00995:48:23YTGFLT4:5:1284:42607:16175,LH00995:48:23YTGFLT4:5:1488:8022:22943,LH00995:48:23YTGFLT4:5:2405:34331:21346,LH00995:48:23YTGFLT4:5:2418:13790:12364,LH00995:48:23YTGFLT4:6:1249:29550:24218,LH00995:48:23YTGFLT4:7:1314:34129:3592,LH00995:48:23YTGFLT4:7:1362:31329:29011,LH00995:48:23YTGFLT4:7:1491:49993:25718,LH00995:48:23YTGFLT4:7:1491:50009:25718,LH00995:48:23YTGFLT4:7:2285:1914:18782

FP671120.4

CD81

+/+

chr21:8217356

chr11:2377533

intron

5'UTR

translocation

65535

5671

medium

|Tetraspanin_family(100%)

ENSG00000278996.1

ENSG00000110651.12

ENST00000263645.10

downstream

upstream

duplicates(7),mismatches(2)

CGGCGGTCGGCGGGCGGCGGGGCGGGGCGGTTCGTCCCCCCGCCCTACCCCCCCGGCCCCGTCCGCCCCCCGTTCCCCCCTCCTCC|CCGCCGCCCGCGCCGCCATGGGAGTGGAGGGCTGCACCAAGTGCATCAAGTACCTGCTCTTCGTCTTCAATTTCGTCTTCTGG___CTGGCTGGAGGCGTGATCCTGGGTGTGGCCCTGTGGCTCCGC

LH00995:48:23YTGFLT4:1:1113:33870:25311,LH00995:48:23YTGFLT4:1:2105:24097:28534,LH00995:48:23YTGFLT4:2:1350:18175:6843,LH00995:48:23YTGFLT4:2:2123:42130:2541,LH00995:48:23YTGFLT4:2:2167:8265:10248,LH00995:48:23YTGFLT4:2:2235:38198:12042,LH00995:48:23YTGFLT4:3:2304:35439:20799,LH00995:48:23YTGFLT4:3:2436:49734:28744,LH00995:48:23YTGFLT4:5:1287:36483:27539,LH00995:48:23YTGFLT4:5:2241:24623:10977,LH00995:48:23YTGFLT4:5:2310:33724:7880,LH00995:48:23YTGFLT4:5:2430:41207:24092,LH00995:48:23YTGFLT4:5:2488:27058:13541,LH00995:48:23YTGFLT4:5:2488:27066:13555,LH00995:48:23YTGFLT4:6:1266:43497:20575,LH00995:48:23YTGFLT4:7:1234:38902:27245,LH00995:48:23YTGFLT4:3:2129:14025:8539,LH00995:48:23YTGFLT4:3:2327:26346:15138,LH00995:48:23YTGFLT4:4:1313:46150:17857,LH00995:48:23YTGFLT4:4:1313:46158:17871,LH00995:48:23YTGFLT4:5:1332:24785:21010,LH00995:48:23YTGFLT4:5:2384:25343:19622,LH00995:48:23YTGFLT4:5:2463:34646:21500,LH00995:48:23YTGFLT4:6:2448:49305:26040

H2BC18

PDE4DIPP7

-/-

chr1:149811947

chr1:149729613

CDS/splice-site

exon/splice-site

deletion/read-through

15531

medium

out-of-frame

Core_histone_H2A/H2B/H3/H4(100%)|

ENSG00000203814.6

ENSG00000234232.7

ENST00000545683.1

ENST00000617878.2

upstream

downstream

duplicates(30),mismatches(5)

GGCGCACTACAACAAGCGCTCCACCATCACATCCCGCGAGATCCAGACGGCCGTGCGCCTGCTGCTGCCCGGCGAGCTGGCCAAGCACGCCGTGTCCGAGGGCACCAAGGCGGTCACCAAGTACACCAGCTCcAA|GAAGTATCATTCCTTGATTCAGGATCAGGCTCAAGAGTTAACCCACCTACGGCAGAAGATGAAGCTTGGGAGAGTGGCCTCTGCTCTTCT

AHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSk|kyhsliqdqaqelthlrqkmklgrvasal

LH00995:48:23YTGFLT4:1:1432:29064:22733,LH00995:48:23YTGFLT4:1:1455:5021:10767,LH00995:48:23YTGFLT4:1:2124:49394:5204,LH00995:48:23YTGFLT4:2:2261:39088:25045,LH00995:48:23YTGFLT4:4:1119:43448:2583,LH00995:48:23YTGFLT4:5:2291:4632:11860,LH00995:48:23YTGFLT4:6:1144:3500:13569,LH00995:48:23YTGFLT4:6:2196:12237:7740,LH00995:48:23YTGFLT4:7:1214:20448:5344,LH00995:48:23YTGFLT4:1:1183:24299:23588,LH00995:48:23YTGFLT4:1:2207:8192:5666,LH00995:48:23YTGFLT4:1:2459:19955:11271,LH00995:48:23YTGFLT4:2:1103:50082:27469,LH00995:48:23YTGFLT4:2:1117:20659:25297,LH00995:48:23YTGFLT4:2:1152:42971:20113,LH00995:48:23YTGFLT4:2:1232:26645:8090,LH00995:48:23YTGFLT4:2:1250:36661:11621,LH00995:48:23YTGFLT4:2:1476:14535:3844,LH00995:48:23YTGFLT4:2:2157:8734:13023,LH00995:48:23YTGFLT4:2:2180:26540:14718,LH00995:48:23YTGFLT4:2:2418:33376:4419,LH00995:48:23YTGFLT4:3:1179:45091:17927,LH00995:48:23YTGFLT4:3:1406:12294:20925,LH00995:48:23YTGFLT4:3:2213:33740:27890,LH00995:48:23YTGFLT4:3:2404:47275:14172,LH00995:48:23YTGFLT4:3:2422:45608:25914,LH00995:48:23YTGFLT4:4:1143:25869:14003,LH00995:48:23YTGFLT4:4:1223:49767:25353,LH00995:48:23YTGFLT4:4:1403:24259:17633,LH00995:48:23YTGFLT4:4:1470:45697:9533,LH00995:48:23YTGFLT4:4:2147:39557:17787,LH00995:48:23YTGFLT4:4:2174:50786:28997,LH00995:48:23YTGFLT4:4:2209:5741:20757,LH00995:48:23YTGFLT4:4:2257:48715:25802,LH00995:48:23YTGFLT4:4:2283:41321:2037,LH00995:48:23YTGFLT4:4:2353:8265:25522,LH00995:48:23YTGFLT4:5:1108:20222:15573,LH00995:48:23YTGFLT4:5:1108:20230:15559,LH00995:48:23YTGFLT4:5:1213:11727:9015,LH00995:48:23YTGFLT4:5:1218:21363:15307,LH00995:48:23YTGFLT4:5:1481:43521:4419,LH00995:48:23YTGFLT4:5:2210:10150:6030,LH00995:48:23YTGFLT4:5:2317:19817:6605,LH00995:48:23YTGFLT4:5:2389:8152:18740,LH00995:48:23YTGFLT4:6:1114:33570:6969,LH00995:48:23YTGFLT4:6:1114:33578:6983,LH00995:48:23YTGFLT4:6:1151:46709:19272,LH00995:48:23YTGFLT4:6:1217:5158:16105,LH00995:48:23YTGFLT4:6:1438:6898:18585,LH00995:48:23YTGFLT4:6:1474:24704:1953,LH00995:48:23YTGFLT4:6:2205:27309:26951,LH00995:48:23YTGFLT4:6:2457:32907:6857,LH00995:48:23YTGFLT4:6:2468:28781:15825,LH00995:48:23YTGFLT4:6:2468:28789:15811,LH00995:48:23YTGFLT4:6:2491:17585:9015,LH00995:48:23YTGFLT4:7:1136:30334:20813,LH00995:48:23YTGFLT4:7:1230:36046:27399,LH00995:48:23YTGFLT4:7:1406:38125:25451,LH00995:48:23YTGFLT4:7:1406:42453:24036,LH00995:48:23YTGFLT4:7:1429:23239:22873

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

4994

4061

medium

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(2%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000398692.8

downstream

upstream

duplicates(41),low_entropy(1)

GCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAG

RPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:48:23YTGFLT4:1:1120:27600:22355,LH00995:48:23YTGFLT4:1:1222:29647:10542,LH00995:48:23YTGFLT4:1:1296:3176:21976,LH00995:48:23YTGFLT4:1:1447:33247:25942,LH00995:48:23YTGFLT4:1:1487:45479:29501,LH00995:48:23YTGFLT4:1:2150:39177:14354,LH00995:48:23YTGFLT4:1:2460:36685:2219,LH00995:48:23YTGFLT4:2:1265:10514:26474,LH00995:48:23YTGFLT4:2:1298:22503:13807,LH00995:48:23YTGFLT4:2:2275:10053:4265,LH00995:48:23YTGFLT4:3:1308:30334:11173,LH00995:48:23YTGFLT4:3:2112:44476:11117,LH00995:48:23YTGFLT4:3:2117:4066:2359,LH00995:48:23YTGFLT4:3:2146:7391:6857,LH00995:48:23YTGFLT4:3:2181:4058:28240,LH00995:48:23YTGFLT4:3:2384:40981:19188,LH00995:48:23YTGFLT4:4:1143:49540:14312,LH00995:48:23YTGFLT4:4:1151:9397:28016,LH00995:48:23YTGFLT4:4:1152:5013:24120,LH00995:48:23YTGFLT4:4:1368:7254:4517,LH00995:48:23YTGFLT4:4:1419:44888:9646,LH00995:48:23YTGFLT4:4:1423:14154:8847,LH00995:48:23YTGFLT4:4:2136:48707:5974,LH00995:48:23YTGFLT4:4:2235:29631:24050,LH00995:48:23YTGFLT4:4:2330:35512:25914,LH00995:48:23YTGFLT4:4:2330:35528:25914,LH00995:48:23YTGFLT4:5:1429:6922:24176,LH00995:48:23YTGFLT4:5:1469:19340:12028,LH00995:48:23YTGFLT4:5:2273:50988:8945,LH00995:48:23YTGFLT4:5:2406:28911:20449,LH00995:48:23YTGFLT4:6:1182:5053:20687,LH00995:48:23YTGFLT4:6:1239:27697:27960,LH00995:48:23YTGFLT4:6:1295:25626:2878,LH00995:48:23YTGFLT4:6:1323:14316:24905,LH00995:48:23YTGFLT4:6:1352:32648:19496,LH00995:48:23YTGFLT4:6:1412:37858:7950,LH00995:48:23YTGFLT4:6:2160:4374:16259,LH00995:48:23YTGFLT4:6:2251:6081:5764,LH00995:48:23YTGFLT4:6:2332:47501:13163,LH00995:48:23YTGFLT4:7:1153:34323:17520,LH00995:48:23YTGFLT4:7:1474:47962:10290,LH00995:48:23YTGFLT4:7:2239:21007:5218,LH00995:48:23YTGFLT4:7:2277:24429:9323,LH00995:48:23YTGFLT4:7:2292:32640:13233,LH00995:48:23YTGFLT4:1:1121:43529:20575,LH00995:48:23YTGFLT4:1:1329:46134:26180,LH00995:48:23YTGFLT4:1:2106:4495:5456,LH00995:48:23YTGFLT4:1:2270:26063:19917,LH00995:48:23YTGFLT4:2:1297:23320:28646,LH00995:48:23YTGFLT4:2:1370:10206:12882,LH00995:48:23YTGFLT4:2:1439:50042:11537,LH00995:48:23YTGFLT4:2:2325:47178:12042,LH00995:48:23YTGFLT4:2:2465:3289:19903,LH00995:48:23YTGFLT4:3:1318:7804:25816,LH00995:48:23YTGFLT4:3:2180:46385:23952,LH00995:48:23YTGFLT4:4:1173:47873:14620,LH00995:48:23YTGFLT4:4:1173:47890:14620,LH00995:48:23YTGFLT4:4:2492:32114:12714,LH00995:48:23YTGFLT4:5:1301:37866:2611,LH00995:48:23YTGFLT4:5:2473:40269:14648,LH00995:48:23YTGFLT4:6:2274:37712:23139,LH00995:48:23YTGFLT4:6:2274:37721:23153,LH00995:48:23YTGFLT4:7:1147:16638:2724,LH00995:48:23YTGFLT4:7:1236:26459:14354,LH00995:48:23YTGFLT4:7:2223:3233:21962

RBM14

RBM4

+/+

chr11:66617057

chr11:66665856

CDS/splice-site

deletion/read-through

4994

2084

low

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(1%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(7)

GGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAGATAACCCCTGTGACAGAAGGCTACTGTTGCTGTAACAAAGGGCATACATACATTTTCAAGAACTGCAATTTAATTTTGG

KIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gKITPVTEGYCCCNKGHTYIFKNCNLIL

LH00995:48:23YTGFLT4:1:2169:21832:21724,LH00995:48:23YTGFLT4:2:1113:26128:20533,LH00995:48:23YTGFLT4:2:2135:27058:4937,LH00995:48:23YTGFLT4:2:2272:43343:19664,LH00995:48:23YTGFLT4:3:2113:4325:12672,LH00995:48:23YTGFLT4:3:2484:47453:18768,LH00995:48:23YTGFLT4:4:1373:7925:25353,LH00995:48:23YTGFLT4:4:2313:10441:13905,LH00995:48:23YTGFLT4:5:2268:4576:2962,LH00995:48:23YTGFLT4:6:2234:24259:7572,LH00995:48:23YTGFLT4:6:2427:51805:8090,LH00995:48:23YTGFLT4:3:2148:19599:2135

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

4994

3541

low

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(6%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000408993.6

downstream

upstream

duplicates(13)

GGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGCGGCTGCTATCGGTGCGGGAAAGAGGGGCACTGGTCCAAAGAGTGTCC

KIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gKRMHVQLSTSRLRTAPGMGDQSGCYRCGKEGHWSKEC

LH00995:48:23YTGFLT4:1:1152:23094:27497,LH00995:48:23YTGFLT4:1:1152:23110:27497,LH00995:48:23YTGFLT4:1:1187:38505:18908,LH00995:48:23YTGFLT4:2:1298:11040:10178,LH00995:48:23YTGFLT4:3:1216:45794:24330,LH00995:48:23YTGFLT4:3:2485:38772:12672,LH00995:48:23YTGFLT4:4:1484:45802:2429,LH00995:48:23YTGFLT4:4:2288:4632:18922,LH00995:48:23YTGFLT4:5:2390:25747:12392,LH00995:48:23YTGFLT4:6:1192:8313:23083,LH00995:48:23YTGFLT4:6:2179:50859:14634,LH00995:48:23YTGFLT4:3:1108:10643:21402,LH00995:48:23YTGFLT4:3:1108:10651:21416,LH00995:48:23YTGFLT4:4:1406:12836:11663,LH00995:48:23YTGFLT4:4:2140:44193:9982,LH00995:48:23YTGFLT4:6:1337:13556:14031,LH00995:48:23YTGFLT4:7:2108:42429:25536

RBM14

RBM4

+/+

chr11:66617057

chr11:66643859

CDS/splice-site

deletion/read-through

4994

2350

low

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(2%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000510173.6

downstream

upstream

duplicates(2)

GCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|ACACCTGTTGCCG

NVSAACTSQELRSLFERRGRVIECDVVK|dtcc

LH00995:48:23YTGFLT4:2:2209:27131:26586,LH00995:48:23YTGFLT4:5:2457:50559:24373,LH00995:48:23YTGFLT4:6:2329:15594:28240

RBM14

RBM4

+/+

chr11:66617055

chr11:66639699

CDS/splice-site

5'UTR/splice-site

deletion/read-through

4994

6310

low

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000409406.1

downstream

upstream

duplicates(1),read_through(1)

CTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAA|GGCTCTTGTCAGGATGGTGAAGCTGTTtATCGGAAACCTGCCC

LRSLFERRGRVIECDVVk|alvrMVKLFIGNL

LH00995:48:23YTGFLT4:6:2451:47865:3760,LH00995:48:23YTGFLT4:7:2284:48820:21388

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

4994

6310

low

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(302),read_through(298)

CTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTG

LNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

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5:48:23YTGFLT4:4:1161:14284:27735,LH00995:48:23YTGFLT4:4:1161:14292:27749,LH00995:48:23YTGFLT4:4:1174:47064:22775,LH00995:48:23YTGFLT4:4:1175:51020:15054,LH00995:48:23YTGFLT4:4:1209:24768:20869,LH00995:48:23YTGFLT4:4:1212:41086:20519,LH00995:48:23YTGFLT4:4:1219:32616:15405,LH00995:48:23YTGFLT4:4:1226:15190:10024,LH00995:48:23YTGFLT4:4:1228:4487:1939,LH00995:48:23YTGFLT4:4:1228:4495:1953,LH00995:48:23YTGFLT4:4:1243:1736:25844,LH00995:48:23YTGFLT4:4:1248:48205:7572,LH00995:48:23YTGFLT4:4:1249:19656:6773,LH00995:48:23YTGFLT4:4:1249:19664:6759,LH00995:48:23YTGFLT4:4:1270:5733:29263,LH00995:48:23YTGFLT4:4:1294:30779:18613,LH00995:48:23YTGFLT4:4:1307:46126:29529,LH00995:48:23YTGFLT4:4:1318:5053:12196,LH00995:48:23YTGFLT4:4:1369:40414:26923,LH00995:48:23YTGFLT4:4:1369:40423:26937,LH00995:48:23YTGFLT4:4:1386:2302:28814,LH00995:48:23YTGFLT4:4:1390:48294:21514,LH00995:48:23YTGFLT4:4:1432:9972:16063,LH00995:48:23YTGFLT4:4:2118:50656:18095,LH00995:48:23YTGFLT4:4:2122:10239:12798,LH00995:48:23YTGFLT4:4:2127:14413:13919,LH00995:48:23YTGFLT4:4:2150:47493:23854,LH00995:48:23YTGFLT4:4:2179:28004:23195,LH00995:48:23YTGFLT4:4:2187:47623:20295,LH00995:48:23YTGFLT4:4:2190:22714:14676,LH00995:48:23YTGFLT4:4:2213:39395:2990,LH00995:48:23YTGFLT4:4:2218:40423:27021,LH00995:48:23YTGFLT4:4:2226:42494:4013,LH00995:48:23YTGFLT4:4:2231:13701:13303,LH00995:48:23YTGFLT4:4:2233:10781:1883,LH00995:48:23YTGFLT4:4:2269:22406:10809,LH00995:48:23YTGFLT4:4:2271:22576:21528,LH00995:48:23YTGFLT4:4:2272:36984:16217,LH00995:48:23YTGFLT4:4:2286:11226:20954,LH00995:48:23YTGFLT4:4:2287:12504:3382,LH00995:48:23YTGFLT4:4:2294:18531:17380,LH00995:48:23YTGFLT4:4:2308:22746:23139,LH00995:48:23YTGFLT4:4:2325:13628:16848,LH00995:48:23YTGFLT4:4:2325:37486:11173,LH00995:48:23YTGFLT4:4:2350:51101:27385,LH00995:48:23YTGFLT4:4:2357:23094:5414,LH00995:48:23YTGFLT4:4:2359:11695:12070,LH00995:48:23YTGFLT4:4:2359:11703:12056,LH00995:48:23YTGFLT4:4:2370:27058:27890,LH00995:48:23YTGFLT4:4:2375:36798:25564,LH00995:48:23YTGFLT4:4:2418:8273:27105,LH00995:48:23YTGFLT4:4:2427:36313:6339,LH00995:48:23YTGFLT4:4:2450:18515:26713,LH00995:48:23YTGFLT4:4:2457:40374:5330,LH00995:48:23YTGFLT4:4:2471:13912:15629,LH00995:48:23YTGFLT4:5:1122:26985:1841,LH00995:48:23YTGFLT4:5:1129:5611:23728,LH00995:48:23YTGFLT4:5:1137:28878:10556,LH00995:48:23YTGFLT4:5:1143:39193:22957,LH00995:48:23YTGFLT4:5:1188:40342:16371,LH00995:48:23YTGFLT4:5:1192:46288:20225,LH00995:48:23YTGFLT4:5:1214:24243:25003,LH00995:48:23YTGFLT4:5:1238:40512:3102,LH00995:48:23YTGFLT4:5:1243:44775:19146,LH00995:48:23YTGFLT4:5:1258:16306:8595,LH00995:48:23YTGFLT4:5:1264:15441:15783,LH00995:48:23YTGFLT4:5:1316:18151:1785,LH00995:48:23YTGFLT4:5:1331:46344:16484,LH00995:48:23YTGFLT4:5:1362:14332:11958,LH00995:48:23YTGFLT4:5:1369:46531:14116,LH00995:48:23YTGFLT4:5:1372:31151:26068,LH00995:48:23YTGFLT4:5:1379:12544:25479,LH00995:48:23YTGFLT4:5:1418:20804:16918,LH00995:48:23YTGFLT4:5:1423:32656:6058,LH00995:48:23YTGFLT4:5:1451:37502:4139,LH00995:48:23YTGFLT4:5:1452:25173:23616,LH00995:48:23YTGFLT4:5:1468:20440:25648,LH00995:48:23YTGFLT4:5:1468:20448:25662,LH00995:48:23YTGFLT4:5:2122:4754:20113,LH00995:48:23YTGFLT4:5:2156:22309:28576,LH00995:48:23YTGFLT4:5:2207:33053:26446,LH00995:48:23YTGFLT4:5:2217:5239:9996,LH00995:48:23YTGFLT4:5:2219:39128:8553,LH00995:48:23YTGFLT4:5:2236:14518:25872,LH00995:48:23YTGFLT4:5:2240:1332:8244,LH00995:48:23YTGFLT4:5:2252:30545:8286,LH00995:48:23YTGFLT4:5:2261:34638:21766,LH00995:48:23YTGFLT4:5:2272:45034:24891,LH00995:48:23YTGFLT4:5:2289:20675:20309,LH00995:48:23YTGFLT4:5:2304:12731:5624,LH00995:48:23YTGFLT4:5:2304:12739:5638,LH00995:48:23YTGFLT4:5:2313:37761:14087,LH00995:48:23YTGFLT4:5:2316:17940:16273,LH00995:48:23YTGFLT4:5:2376:38999:12448

RBM14

RBM4

+/+

chr11:66617550

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

6310

low

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000461478.1

ENST00000396053.9

downstream

upstream

duplicates(1),read_through(2)

GTCAGAGCAAGGGAAGAGGGAAAAGGTGGGGGCTGACGCCCCAAGGCCGCCCTCCTGTTCCCTCCCGATGAATGTGCTCAAGCGGAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGA

LH00995:48:23YTGFLT4:4:2192:42243:17563,LH00995:48:23YTGFLT4:1:1395:27074:25143,LH00995:48:23YTGFLT4:2:1146:28239:2163

RBM14

RBM4

+/+

chr11:66625678

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

853

6310

low

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(99%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(1),read_through(1)

GCTGTCGCCATGTCGAAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTAC

AVAMSKr|llsgw*

LH00995:48:23YTGFLT4:3:1128:4390:25199,LH00995:48:23YTGFLT4:6:1142:19971:5750

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

179

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253305.2

ENST00000622527.1

ENST00000520790.1

downstream

upstream

duplicates(68)

CAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATG

KTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTE

LH00995:48:23YTGFLT4:1:1193:32470:2822,LH00995:48:23YTGFLT4:1:1193:32478:2808,LH00995:48:23YTGFLT4:1:1417:31402:17675,LH00995:48:23YTGFLT4:1:1486:19000:13597,LH00995:48:23YTGFLT4:1:2263:23628:25788,LH00995:48:23YTGFLT4:1:2411:47097:9772,LH00995:48:23YTGFLT4:1:2486:35051:28450,LH00995:48:23YTGFLT4:2:1325:19583:9730,LH00995:48:23YTGFLT4:2:2147:27098:18599,LH00995:48:23YTGFLT4:2:2151:40779:9646,LH00995:48:23YTGFLT4:2:2358:3476:6661,LH00995:48:23YTGFLT4:2:2389:1073:23994,LH00995:48:23YTGFLT4:2:2419:47704:21500,LH00995:48:23YTGFLT4:3:1118:2505:13527,LH00995:48:23YTGFLT4:3:1132:33603:29529,LH00995:48:23YTGFLT4:3:1137:11080:26362,LH00995:48:23YTGFLT4:3:1429:31297:23602,LH00995:48:23YTGFLT4:3:1460:5005:5666,LH00995:48:23YTGFLT4:3:1473:26039:3116,LH00995:48:23YTGFLT4:3:1473:26047:3130,LH00995:48:23YTGFLT4:3:2121:10077:13499,LH00995:48:23YTGFLT4:3:2258:29226:28506,LH00995:48:23YTGFLT4:3:2265:18685:20505,LH00995:48:23YTGFLT4:3:2310:17641:1687,LH00995:48:23YTGFLT4:4:1147:45082:24415,LH00995:48:23YTGFLT4:4:1264:22277:17422,LH00995:48:23YTGFLT4:4:1429:7642:6983,LH00995:48:23YTGFLT4:4:2436:37567:19496,LH00995:48:23YTGFLT4:5:1234:8516:4517,LH00995:48:23YTGFLT4:5:1273:51805:25297,LH00995:48:23YTGFLT4:5:1344:41466:24204,LH00995:48:23YTGFLT4:5:1344:41482:24204,LH00995:48:23YTGFLT4:5:1387:2125:8048,LH00995:48:23YTGFLT4:5:1485:33271:27553,LH00995:48:23YTGFLT4:5:2211:25772:29025,LH00995:48:23YTGFLT4:5:2342:2480:12112,LH00995:48:23YTGFLT4:5:2359:28409:28912,LH00995:48:23YTGFLT4:5:2463:15012:21682,LH00995:48:23YTGFLT4:6:2133:39937:6899,LH00995:48:23YTGFLT4:6:2342:50624:4783,LH00995:48:23YTGFLT4:7:1135:39913:27876,LH00995:48:23YTGFLT4:7:1395:46450:26671,LH00995:48:23YTGFLT4:7:2132:47542:8384,LH00995:48:23YTGFLT4:7:2188:8580:19762,LH00995:48:23YTGFLT4:7:2273:18830:7165,LH00995:48:23YTGFLT4:1:1193:41814:11355,LH00995:48:23YTGFLT4:1:1193:41822:11369,LH00995:48:23YTGFLT4:1:1197:20683:24723,LH00995:48:23YTGFLT4:1:1246:1405:8342,LH00995:48:23YTGFLT4:1:1285:29145:29039,LH00995:48:23YTGFLT4:1:1289:13054:27539,LH00995:48:23YTGFLT4:1:2245:42752:5414,LH00995:48:23YTGFLT4:1:2294:23887:29179,LH00995:48:23YTGFLT4:1:2343:11978:13961,LH00995:48:23YTGFLT4:1:2360:41410:19314,LH00995:48:23YTGFLT4:1:2382:46482:11061,LH00995:48:23YTGFLT4:1:2469:25230:2611,LH00995:48:23YTGFLT4:2:1213:30860:17941,LH00995:48:23YTGFLT4:2:1363:36823:14676,LH00995:48:23YTGFLT4:2:2114:43982:24751,LH00995:48:23YTGFLT4:2:2243:27220:6255,LH00995:48:23YTGFLT4:2:2256:29339:4909,LH00995:48:23YTGFLT4:2:2280:44330:20477,LH00995:48:23YTGFLT4:2:2364:28838:8777,LH00995:48:23YTGFLT4:3:1209:6275:8034,LH00995:48:23YTGFLT4:3:1363:10433:24765,LH00995:48:23YTGFLT4:3:1379:2634:3410,LH00995:48:23YTGFLT4:3:1439:26411:14214,LH00995:48:23YTGFLT4:3:2156:16945:2079,LH00995:48:23YTGFLT4:3:2260:33190:7488,LH00995:48:23YTGFLT4:3:2261:44079:26488,LH00995:48:23YTGFLT4:3:2276:46870:18992,LH00995:48:23YTGFLT4:3:2283:46199:2499,LH00995:48:23YTGFLT4:4:1116:11646:21150,LH00995:48:23YTGFLT4:4:1381:23741:21080,LH00995:48:23YTGFLT4:4:2167:23911:4307,LH00995:48:23YTGFLT4:4:2475:46490:21836,LH00995:48:23YTGFLT4:5:1442:18725:6871,LH00995:48:23YTGFLT4:5:2355:43772:28646,LH00995:48:23YTGFLT4:5:2421:37753:4153,LH00995:48:23YTGFLT4:6:1103:17212:6521,LH00995:48:23YTGFLT4:6:1179:35674:16862,LH00995:48:23YTGFLT4:6:1262:37243:26222,LH00995:48:23YTGFLT4:6:1274:5636:14886,LH00995:48:23YTGFLT4:6:1467:48545:12364,LH00995:48:23YTGFLT4:6:2475:37437:16750,LH00995:48:23YTGFLT4:7:1229:14001:19090,LH00995:48:23YTGFLT4:7:1367:10166:17969,LH00995:48:23YTGFLT4:7:2155:1785:7179,LH00995:48:23YTGFLT4:7:2196:21581:15489

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

179

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000242419.5

ENST00000622527.1

ENST00000306593.1

downstream

upstream

duplicates(68)

KTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTE

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

179

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253846.2

ENST00000622527.1

ENST00000398610.2

downstream

upstream

duplicates(68)

KTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTE

PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

179

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000240764.4

ENST00000622527.1

ENST00000252087.3

downstream

upstream

duplicates(68)

KTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTE

PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

179

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253767.3

ENST00000622527.1

ENST00000398604.3

downstream

upstream

duplicates(68)

KTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTE

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

179

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253873.6

ENST00000622527.1

ENST00000398587.7

downstream

upstream

duplicates(68)

KTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTE

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

179

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000254122.3

ENST00000622527.1

ENST00000398594.4

downstream

upstream

duplicates(68)

KTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTE

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

179

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000240184.7

ENST00000622527.1

ENST00000308177.5

downstream

upstream

duplicates(68)

KTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTE

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

179

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000261934.2

ENST00000622527.1

ENST00000573521.1

downstream

upstream

duplicates(68)

KTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTE

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

179

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253159.3

ENST00000622527.1

ENST00000252085.4

downstream

upstream

duplicates(68)

KTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTE

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000253305.2

ENST00000610583.1

ENST00000520790.1

downstream

upstream

duplicates(26)

TCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAG

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

LH00995:48:23YTGFLT4:1:1105:36499:22439,LH00995:48:23YTGFLT4:1:1427:24065:14886,LH00995:48:23YTGFLT4:1:2123:7682:11621,LH00995:48:23YTGFLT4:2:1280:34104:13891,LH00995:48:23YTGFLT4:2:2225:37081:15208,LH00995:48:23YTGFLT4:3:1183:33506:16414,LH00995:48:23YTGFLT4:3:1184:1259:14116,LH00995:48:23YTGFLT4:3:1458:42235:8749,LH00995:48:23YTGFLT4:3:2467:41507:22201,LH00995:48:23YTGFLT4:4:1176:27964:27946,LH00995:48:23YTGFLT4:4:1177:26500:15713,LH00995:48:23YTGFLT4:4:1267:15813:8469,LH00995:48:23YTGFLT4:4:1306:14955:13933,LH00995:48:23YTGFLT4:4:1385:4511:29109,LH00995:48:23YTGFLT4:4:2282:9495:15489,LH00995:48:23YTGFLT4:4:2319:47728:11061,LH00995:48:23YTGFLT4:4:2433:1971:1925,LH00995:48:23YTGFLT4:4:2433:1979:1911,LH00995:48:23YTGFLT4:5:1248:4018:16988,LH00995:48:23YTGFLT4:5:1248:4034:16988,LH00995:48:23YTGFLT4:5:1314:14915:26895,LH00995:48:23YTGFLT4:5:2174:12172:1350,LH00995:48:23YTGFLT4:5:2266:39436:5022,LH00995:48:23YTGFLT4:5:2280:33263:26026,LH00995:48:23YTGFLT4:5:2412:36159:24709,LH00995:48:23YTGFLT4:6:2248:49726:11663,LH00995:48:23YTGFLT4:6:2369:14632:5974,LH00995:48:23YTGFLT4:1:1483:17819:14746,LH00995:48:23YTGFLT4:1:2494:45908:4321,LH00995:48:23YTGFLT4:2:1195:31103:7656,LH00995:48:23YTGFLT4:2:2498:6809:11397,LH00995:48:23YTGFLT4:3:1178:20092:9463,LH00995:48:23YTGFLT4:3:1178:20109:9463,LH00995:48:23YTGFLT4:3:1273:5992:23994,LH00995:48:23YTGFLT4:3:1273:6008:23994,LH00995:48:23YTGFLT4:3:2131:47340:9688,LH00995:48:23YTGFLT4:3:2231:3670:25606,LH00995:48:23YTGFLT4:4:2406:42194:10416,LH00995:48:23YTGFLT4:4:2440:6453:7165,LH00995:48:23YTGFLT4:4:2461:40245:21192,LH00995:48:23YTGFLT4:5:2178:47882:5918,LH00995:48:23YTGFLT4:6:1116:28417:24611,LH00995:48:23YTGFLT4:6:1208:13823:18754,LH00995:48:23YTGFLT4:6:2360:43901:16231,LH00995:48:23YTGFLT4:7:1174:36151:16960,LH00995:48:23YTGFLT4:7:1191:41814:15979

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000242419.5

ENST00000610583.1

ENST00000306593.1

downstream

upstream

duplicates(26)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000253846.2

ENST00000610583.1

ENST00000398610.2

downstream

upstream

duplicates(26)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000240764.4

ENST00000610583.1

ENST00000252087.3

downstream

upstream

duplicates(26)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000253767.3

ENST00000610583.1

ENST00000398604.3

downstream

upstream

duplicates(26)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000253873.6

ENST00000610583.1

ENST00000398587.7

downstream

upstream

duplicates(26)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000254122.3

ENST00000610583.1

ENST00000398594.4

downstream

upstream

duplicates(26)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000240184.7

ENST00000610583.1

ENST00000308177.5

downstream

upstream

duplicates(26)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000261934.2

ENST00000610583.1

ENST00000573521.1

downstream

upstream

duplicates(26)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000253159.3

ENST00000610583.1

ENST00000252085.4

downstream

upstream

duplicates(26)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000253305.2

ENST00000528330.2

ENST00000520790.1

downstream

upstream

duplicates(27)

TGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTG

ADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

LH00995:48:23YTGFLT4:1:1121:8605:5232,LH00995:48:23YTGFLT4:1:1292:22940:1392,LH00995:48:23YTGFLT4:1:1316:19008:15937,LH00995:48:23YTGFLT4:1:1351:33085:22887,LH00995:48:23YTGFLT4:2:1283:40325:25704,LH00995:48:23YTGFLT4:2:2462:29978:8342,LH00995:48:23YTGFLT4:3:1109:7844:7530,LH00995:48:23YTGFLT4:3:1293:1429:15839,LH00995:48:23YTGFLT4:3:2370:41466:15265,LH00995:48:23YTGFLT4:4:1170:47340:28072,LH00995:48:23YTGFLT4:4:1252:11776:29697,LH00995:48:23YTGFLT4:4:1356:23652:13639,LH00995:48:23YTGFLT4:4:2268:40479:5904,LH00995:48:23YTGFLT4:4:2356:23523:26923,LH00995:48:23YTGFLT4:4:2466:42785:19538,LH00995:48:23YTGFLT4:5:1364:46725:12378,LH00995:48:23YTGFLT4:5:1372:13515:7151,LH00995:48:23YTGFLT4:5:2206:46571:14690,LH00995:48:23YTGFLT4:5:2297:27600:13583,LH00995:48:23YTGFLT4:6:1395:4430:29697,LH00995:48:23YTGFLT4:6:1397:24493:17591,LH00995:48:23YTGFLT4:6:2126:33028:15559,LH00995:48:23YTGFLT4:6:2290:10643:5624,LH00995:48:23YTGFLT4:6:2376:40188:24373,LH00995:48:23YTGFLT4:7:1144:34096:25620,LH00995:48:23YTGFLT4:7:1365:21994:7684,LH00995:48:23YTGFLT4:7:2180:19914:10725,LH00995:48:23YTGFLT4:7:2303:11986:28100,LH00995:48:23YTGFLT4:1:2139:41086:7151,LH00995:48:23YTGFLT4:1:2493:17528:14802,LH00995:48:23YTGFLT4:2:1385:16064:6241,LH00995:48:23YTGFLT4:2:2217:42947:5806,LH00995:48:23YTGFLT4:2:2307:38748:22439,LH00995:48:23YTGFLT4:3:1380:14607:2709,LH00995:48:23YTGFLT4:3:2207:3144:20407,LH00995:48:23YTGFLT4:4:1214:23345:23223,LH00995:48:23YTGFLT4:4:1257:25642:24961,LH00995:48:23YTGFLT4:5:1402:14203:21962,LH00995:48:23YTGFLT4:5:2453:25213:13541,LH00995:48:23YTGFLT4:6:1302:9672:1925,LH00995:48:23YTGFLT4:6:2485:34282:29557,LH00995:48:23YTGFLT4:7:1495:29687:26642

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000242419.5

ENST00000528330.2

ENST00000306593.1

downstream

upstream

duplicates(27)

ADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000253846.2

ENST00000528330.2

ENST00000398610.2

downstream

upstream

duplicates(27)

ADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000240764.4

ENST00000528330.2

ENST00000252087.3

downstream

upstream

duplicates(27)

ADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000253767.3

ENST00000528330.2

ENST00000398604.3

downstream

upstream

duplicates(27)

ADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000253873.6

ENST00000528330.2

ENST00000398587.7

downstream

upstream

duplicates(27)

ADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000254122.3

ENST00000528330.2

ENST00000398594.4

downstream

upstream

duplicates(27)

ADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000240184.7

ENST00000528330.2

ENST00000308177.5

downstream

upstream

duplicates(27)

ADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000261934.2

ENST00000528330.2

ENST00000573521.1

downstream

upstream

duplicates(27)

ADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000253159.3

ENST00000528330.2

ENST00000252085.4

downstream

upstream

duplicates(27)

ADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253305.2

ENST00000612927.1

ENST00000520790.1

downstream

upstream

duplicates(45),mismappers(1)

GCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC

ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

LH00995:48:23YTGFLT4:1:1489:29598:9926,LH00995:48:23YTGFLT4:1:2484:32422:23980,LH00995:48:23YTGFLT4:2:2359:47493:20743,LH00995:48:23YTGFLT4:2:2464:34598:23097,LH00995:48:23YTGFLT4:2:2493:19704:21206,LH00995:48:23YTGFLT4:3:1474:24801:7866,LH00995:48:23YTGFLT4:3:2137:25173:4307,LH00995:48:23YTGFLT4:3:2427:48496:26713,LH00995:48:23YTGFLT4:4:1152:18806:22873,LH00995:48:23YTGFLT4:5:1166:16638:15054,LH00995:48:23YTGFLT4:5:1180:18919:3760,LH00995:48:23YTGFLT4:5:1385:10061:20057,LH00995:48:23YTGFLT4:5:1480:6744:21682,LH00995:48:23YTGFLT4:5:2144:49322:6731,LH00995:48:23YTGFLT4:6:1129:20570:25620,LH00995:48:23YTGFLT4:6:1267:25577:21570,LH00995:48:23YTGFLT4:6:1368:35528:20169,LH00995:48:23YTGFLT4:6:1368:35536:20155,LH00995:48:23YTGFLT4:6:1473:19583:28842,LH00995:48:23YTGFLT4:6:2189:46239:28044,LH00995:48:23YTGFLT4:6:2189:46247:28058,LH00995:48:23YTGFLT4:6:2319:40617:15307,LH00995:48:23YTGFLT4:6:2319:40625:15293,LH00995:48:23YTGFLT4:7:1146:9608:12238,LH00995:48:23YTGFLT4:7:1160:37041:28338,LH00995:48:23YTGFLT4:7:1170:16209:13527,LH00995:48:23YTGFLT4:7:1194:24987:20883,LH00995:48:23YTGFLT4:7:1251:19275:7852,LH00995:48:23YTGFLT4:7:1251:19283:7838,LH00995:48:23YTGFLT4:7:1398:46255:7586,LH00995:48:23YTGFLT4:1:1124:34161:27609,LH00995:48:23YTGFLT4:1:1397:24849:9463,LH00995:48:23YTGFLT4:1:2203:10287:19720,LH00995:48:23YTGFLT4:1:2454:49136:1953,LH00995:48:23YTGFLT4:2:1476:50187:4839,LH00995:48:23YTGFLT4:2:1480:10126:6997,LH00995:48:23YTGFLT4:2:2123:13831:17506,LH00995:48:23YTGFLT4:2:2209:41806:7670,LH00995:48:23YTGFLT4:2:2338:38254:11075,LH00995:48:23YTGFLT4:3:1266:34703:10220,LH00995:48:23YTGFLT4:3:1365:27616:18908,LH00995:48:23YTGFLT4:3:2131:13362:15517,LH00995:48:23YTGFLT4:4:1480:4341:13709,LH00995:48:23YTGFLT4:4:1488:6509:5386,LH00995:48:23YTGFLT4:4:2139:9058:17310,LH00995:48:23YTGFLT4:4:2147:48326:28716,LH00995:48:23YTGFLT4:4:2306:18175:9449,LH00995:48:23YTGFLT4:4:2350:28700:6044,LH00995:48:23YTGFLT4:4:2390:27220:19006,LH00995:48:23YTGFLT4:5:1137:50931:10304,LH00995:48:23YTGFLT4:5:1137:50940:10290,LH00995:48:23YTGFLT4:5:2118:2909:13415,LH00995:48:23YTGFLT4:5:2356:16428:14410,LH00995:48:23YTGFLT4:6:1350:13402:3844,LH00995:48:23YTGFLT4:6:1366:50406:15166,LH00995:48:23YTGFLT4:6:1438:34719:18375,LH00995:48:23YTGFLT4:6:1480:51465:15405,LH00995:48:23YTGFLT4:7:1246:24048:25311,LH00995:48:23YTGFLT4:7:1331:50624:26699,LH00995:48:23YTGFLT4:7:1368:26338:2681

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000242419.5

ENST00000612927.1

ENST00000306593.1

downstream

upstream

duplicates(45),mismappers(1)

ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253846.2

ENST00000612927.1

ENST00000398610.2

downstream

upstream

duplicates(45),mismappers(1)

ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000240764.4

ENST00000612927.1

ENST00000252087.3

downstream

upstream

duplicates(45),mismappers(1)

ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253767.3

ENST00000612927.1

ENST00000398604.3

downstream

upstream

duplicates(45),mismappers(1)

ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253873.6

ENST00000612927.1

ENST00000398587.7

downstream

upstream

duplicates(45),mismappers(1)

ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000254122.3

ENST00000612927.1

ENST00000398594.4

downstream

upstream

duplicates(45),mismappers(1)

ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000240184.7

ENST00000612927.1

ENST00000308177.5

downstream

upstream

duplicates(45),mismappers(1)

ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000261934.2

ENST00000612927.1

ENST00000573521.1

downstream

upstream

duplicates(45),mismappers(1)

ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253159.3

ENST00000612927.1

ENST00000252085.4

downstream

upstream

duplicates(45),mismappers(1)

ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PARVA

BNIP3P2(28926),YME1L1P1(111021)

+/+

./-

chr11:12518517

chr22:15378969

CDS/splice-site

intergenic

translocation

3135

medium

out-of-frame

Calponin_homology_(CH)_domain(89%)|

ENSG00000197702.14

ENST00000334956.15

downstream

duplicates(9),mismatches(5)

CTGGAGGGCTACTTTGTGCCCCTGCACAGCTTCTTCCTGACCCCGGACAGCTTTGAACAGAAG___GTCTTGAATGTCTCCTTTGCCTTTGAGCTCATGCAAGATGGAGGGTTGGAAAAGCCAAAACCGCGGCCAGAAG|GATTCGAGGACACGGCTACGAGGGTCTGAATGTTTGCCCATCACAAAGGATTCCTGAACACTGCTGCTGGGTTCTGAGTGTTTGTCCCTCACAAAGG

LEGYFVPLHSFFLTPDSFEQKVLNVSFAFELMQDGGLEKPKPRPE|gfedtatrv*

LH00995:48:23YTGFLT4:1:1434:23361:23700,LH00995:48:23YTGFLT4:1:1434:23377:23700,LH00995:48:23YTGFLT4:1:1492:43804:9141,LH00995:48:23YTGFLT4:1:1492:43820:9141,LH00995:48:23YTGFLT4:1:2395:9122:16778,LH00995:48:23YTGFLT4:2:1195:31904:3887,LH00995:48:23YTGFLT4:2:1465:8888:1771,LH00995:48:23YTGFLT4:2:2249:21128:10472,LH00995:48:23YTGFLT4:3:2263:45479:21570,LH00995:48:23YTGFLT4:4:2251:3726:13653,LH00995:48:23YTGFLT4:4:2440:41369:21458,LH00995:48:23YTGFLT4:5:1278:31831:24162,LH00995:48:23YTGFLT4:5:1393:47032:7782,LH00995:48:23YTGFLT4:5:1422:29080:9926,LH00995:48:23YTGFLT4:5:1491:26629:24681,LH00995:48:23YTGFLT4:5:2411:46741:15685,LH00995:48:23YTGFLT4:6:2125:14308:20127,LH00995:48:23YTGFLT4:6:2338:24825:15839,LH00995:48:23YTGFLT4:6:2476:12690:7011,LH00995:48:23YTGFLT4:6:2493:37898:27946,LH00995:48:23YTGFLT4:7:1344:3289:28562,LH00995:48:23YTGFLT4:7:2201:5490:2415,LH00995:48:23YTGFLT4:7:2293:10870:16806,LH00995:48:23YTGFLT4:4:2220:3370:29655,LH00995:48:23YTGFLT4:4:2364:40673:2037,LH00995:48:23YTGFLT4:5:2190:37017:19945,LH00995:48:23YTGFLT4:6:2308:50454:16231

PCDHGA3

PCDHGB6

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

115

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000254245.3

ENSG00000253305.2

ENST00000619750.1

ENST00000520790.1

downstream

upstream

duplicates(45),mismappers(1)

CGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGC

RKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

LH00995:48:23YTGFLT4:1:1385:14535:10879,LH00995:48:23YTGFLT4:1:1416:38497:27918,LH00995:48:23YTGFLT4:1:1485:40657:14452,LH00995:48:23YTGFLT4:1:2121:21654:6227,LH00995:48:23YTGFLT4:1:2121:21670:6227,LH00995:48:23YTGFLT4:1:2152:19089:22495,LH00995:48:23YTGFLT4:1:2189:29412:28072,LH00995:48:23YTGFLT4:1:2333:19979:29081,LH00995:48:23YTGFLT4:1:2476:12811:9267,LH00995:48:23YTGFLT4:2:1309:5781:7572,LH00995:48:23YTGFLT4:2:2350:51643:5372,LH00995:48:23YTGFLT4:2:2355:4576:21318,LH00995:48:23YTGFLT4:2:2401:5708:24961,LH00995:48:23YTGFLT4:3:1182:43691:22060,LH00995:48:23YTGFLT4:3:1252:36410:8413,LH00995:48:23YTGFLT4:3:1457:35140:13107,LH00995:48:23YTGFLT4:3:2168:32454:9912,LH00995:48:23YTGFLT4:3:2366:1307:16974,LH00995:48:23YTGFLT4:3:2380:9478:25970,LH00995:48:23YTGFLT4:3:2380:9486:25956,LH00995:48:23YTGFLT4:3:2449:13685:22411,LH00995:48:23YTGFLT4:4:2181:9713:15475,LH00995:48:23YTGFLT4:4:2227:4503:6171,LH00995:48:23YTGFLT4:4:2227:4519:6171,LH00995:48:23YTGFLT4:4:2280:3233:20925,LH00995:48:23YTGFLT4:4:2280:3241:20939,LH00995:48:23YTGFLT4:4:2349:18458:7782,LH00995:48:23YTGFLT4:5:1104:1154:11635,LH00995:48:23YTGFLT4:5:1228:38627:14017,LH00995:48:23YTGFLT4:5:1266:27236:10963,LH00995:48:23YTGFLT4:5:2297:52032:24401,LH00995:48:23YTGFLT4:6:1164:12755:16708,LH00995:48:23YTGFLT4:6:1185:34104:27399,LH00995:48:23YTGFLT4:6:1462:5223:13667,LH00995:48:23YTGFLT4:6:1486:47865:10094,LH00995:48:23YTGFLT4:6:1486:47873:10080,LH00995:48:23YTGFLT4:6:2229:46231:9842,LH00995:48:23YTGFLT4:6:2240:30561:4615,LH00995:48:23YTGFLT4:6:2368:36369:12126,LH00995:48:23YTGFLT4:6:2424:6250:28366,LH00995:48:23YTGFLT4:7:1393:35415:1476,LH00995:48:23YTGFLT4:7:1393:35431:1476,LH00995:48:23YTGFLT4:7:1450:2432:22229,LH00995:48:23YTGFLT4:7:2187:24081:3760,LH00995:48:23YTGFLT4:7:2194:29210:22453,LH00995:48:23YTGFLT4:7:2246:17131:21934,LH00995:48:23YTGFLT4:1:1427:45600:3816,LH00995:48:23YTGFLT4:1:2310:26524:16400,LH00995:48:23YTGFLT4:2:1450:49621:4475,LH00995:48:23YTGFLT4:2:2243:35383:15461,LH00995:48:23YTGFLT4:2:2301:21233:12756,LH00995:48:23YTGFLT4:3:1178:21371:28772,LH00995:48:23YTGFLT4:3:2242:37122:14494,LH00995:48:23YTGFLT4:3:2456:39339:15699,LH00995:48:23YTGFLT4:5:2298:52056:24190,LH00995:48:23YTGFLT4:5:2320:43990:15124,LH00995:48:23YTGFLT4:6:1254:19502:7684,LH00995:48:23YTGFLT4:7:2265:41151:4433,LH00995:48:23YTGFLT4:7:2289:42388:9996

PCDHGA3

PCDHGC4

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

115

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000254245.3

ENSG00000242419.5

ENST00000619750.1

ENST00000306593.1

downstream

upstream

duplicates(45),mismappers(1)

RKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGA10

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

115

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000254245.3

ENSG00000253846.2

ENST00000619750.1

ENST00000398610.2

downstream

upstream

duplicates(45),mismappers(1)

RKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGC5

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

115

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000254245.3

ENSG00000240764.4

ENST00000619750.1

ENST00000252087.3

downstream

upstream

duplicates(45),mismappers(1)

RKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGA8

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

115

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000254245.3

ENSG00000253767.3

ENST00000619750.1

ENST00000398604.3

downstream

upstream

duplicates(45),mismappers(1)

RKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGA11

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

115

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000254245.3

ENSG00000253873.6

ENST00000619750.1

ENST00000398587.7

downstream

upstream

duplicates(45),mismappers(1)

RKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGB7

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

115

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000254245.3

ENSG00000254122.3

ENST00000619750.1

ENST00000398594.4

downstream

upstream

duplicates(45),mismappers(1)

RKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGC3

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

115

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000254245.3

ENSG00000240184.7

ENST00000619750.1

ENST00000308177.5

downstream

upstream

duplicates(45),mismappers(1)

RKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGA9

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

115

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000254245.3

ENSG00000261934.2

ENST00000619750.1

ENST00000573521.1

downstream

upstream

duplicates(45),mismappers(1)

RKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGA12

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

115

10464

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000254245.3

ENSG00000253159.3

ENST00000619750.1

ENST00000252085.4

downstream

upstream

duplicates(45),mismappers(1)

RKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

NPIPA2

+/+

chr16:14765407

chr16:14765349

CDS

duplication/ITD

201

338

medium

out-of-frame

Nuclear_pore_complex_interacting_protein_(NPIP)(100%)|

ENSG00000254852.8

ENST00000529166.5

downstream

upstream

duplicates(104)

TCCACCCTCAGCTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCAAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGA|CACCTCCCAAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGC

PPSAPPSADDNLKTPPKCVCSLPFHPQRMIISR|hlpsvsahspstl

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

2121

3758

medium

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

duplicates(6)

CTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAG

LYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQRE

LH00995:48:23YTGFLT4:2:1239:37979:27049,LH00995:48:23YTGFLT4:2:1239:37987:27063,LH00995:48:23YTGFLT4:2:1241:51465:2205,LH00995:48:23YTGFLT4:2:1241:51474:2219,LH00995:48:23YTGFLT4:4:1410:2238:11439,LH00995:48:23YTGFLT4:6:1249:5199:27385,LH00995:48:23YTGFLT4:1:2182:33036:15461,LH00995:48:23YTGFLT4:2:1106:40245:24387,LH00995:48:23YTGFLT4:2:2156:20327:11775,LH00995:48:23YTGFLT4:2:2192:34137:21318,LH00995:48:23YTGFLT4:3:1114:32009:22117,LH00995:48:23YTGFLT4:3:1278:44937:19006,LH00995:48:23YTGFLT4:4:2325:41749:15391,LH00995:48:23YTGFLT4:5:1121:35075:19692,LH00995:48:23YTGFLT4:5:1340:1461:14634,LH00995:48:23YTGFLT4:5:1367:28069:5820,LH00995:48:23YTGFLT4:5:2411:17204:23742,LH00995:48:23YTGFLT4:5:2496:30617:13625

NPHP3

ACAD11

-/-

chr3:132681914

chr3:132644896

CDS

CDS/splice-site

deletion/read-through

316

504

medium

in-frame

Tetratricopeptide_repeat(100%)|Acyl-CoA_dehydrogenase__C-terminal_domain(100%),Acyl-CoA_dehydrogenase__N-terminal_domain(100%),Acyl-CoA_dehydrogenase__middle_domain(100%),Phosphotransferase_enzyme_family(97%)

ENSG00000113971.20

ENSG00000240303.8

ENST00000337331.10

ENST00000264990.11

upstream

downstream

duplicates(21)

AACATCACTCTTGGGTGGAAAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTATCTCCAGAAGGGCTTTCAAACATATGTGCTCAGGAAAAAACCA

TSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTFYLQKGFQTYVLRKK

LH00995:48:23YTGFLT4:2:2219:17471:19412,LH00995:48:23YTGFLT4:3:2241:14421:17913,LH00995:48:23YTGFLT4:4:2219:19114:26460,LH00995:48:23YTGFLT4:5:1294:12908:22915,LH00995:48:23YTGFLT4:7:1452:20659:15825,LH00995:48:23YTGFLT4:7:1467:5361:10907,LH00995:48:23YTGFLT4:1:1478:1858:5204,LH00995:48:23YTGFLT4:2:2257:40018:20659,LH00995:48:23YTGFLT4:2:2471:3613:22313,LH00995:48:23YTGFLT4:3:1243:17447:3312,LH00995:48:23YTGFLT4:3:1325:32745:25129,LH00995:48:23YTGFLT4:3:1421:23701:21290,LH00995:48:23YTGFLT4:3:2107:21816:17212,LH00995:48:23YTGFLT4:3:2113:1825:25718,LH00995:48:23YTGFLT4:3:2153:18167:22159,LH00995:48:23YTGFLT4:3:2190:32430:7740,LH00995:48:23YTGFLT4:3:2259:10045:3410,LH00995:48:23YTGFLT4:4:1334:8054:27904,LH00995:48:23YTGFLT4:4:1426:44864:23364,LH00995:48:23YTGFLT4:4:1494:28142:22649,LH00995:48:23YTGFLT4:4:2161:41790:20954,LH00995:48:23YTGFLT4:4:2358:6784:20603,LH00995:48:23YTGFLT4:5:1224:37365:18109,LH00995:48:23YTGFLT4:5:1380:42243:5848,LH00995:48:23YTGFLT4:5:1473:22859:20954,LH00995:48:23YTGFLT4:6:1466:18936:14886,LH00995:48:23YTGFLT4:6:2353:6299:2051,LH00995:48:23YTGFLT4:6:2422:41863:5190,LH00995:48:23YTGFLT4:7:1405:51441:1350,LH00995:48:23YTGFLT4:7:1476:25925:11916,LH00995:48:23YTGFLT4:7:2158:4543:8370,LH00995:48:23YTGFLT4:7:2254:36005:26909

IKZF2

LINC01953

-/-

chr2:213147708

chr2:213159281

CDS/splice-site

intron

duplication

6813

medium

out-of-frame

ENSG00000030419.16

ENSG00000236193.3

ENST00000457361.5

upstream

downstream

duplicates(17)

CATTGCACTTTGACTATGGAAACAGAGGCTATTGATGGCTATATAACGT___GTGACAATGAGCTTTCACCCGAAAGGGAGCACTCCAATATGGCAATTGACCTCACCTCAAGCACACCCAATGGACAGCATGCCTCACCAAGTCACATGACAAGCA|GAAAATCACATGGAGAGTGAAAATATCAGAAAGTCGCTAATGTTGGGCTTAGAACTGATCAAAGAGTTTTGTGTACGATAGACTGCCTAATGGTACCAGGCCTGACAGCCTGCAGTGTCCCC

MTS|rkshge*

LH00995:48:23YTGFLT4:1:2198:13135:11621,LH00995:48:23YTGFLT4:2:1138:8330:25634,LH00995:48:23YTGFLT4:2:1275:22212:10416,LH00995:48:23YTGFLT4:2:1275:22220:10430,LH00995:48:23YTGFLT4:2:1305:43206:20911,LH00995:48:23YTGFLT4:4:1471:10837:26727,LH00995:48:23YTGFLT4:4:1471:10846:26741,LH00995:48:23YTGFLT4:4:2239:28037:4167,LH00995:48:23YTGFLT4:4:2245:22374:11593,LH00995:48:23YTGFLT4:5:1184:42453:18235,LH00995:48:23YTGFLT4:5:1184:42469:18235,LH00995:48:23YTGFLT4:5:2196:24785:16722,LH00995:48:23YTGFLT4:6:1196:27883:26993,LH00995:48:23YTGFLT4:6:2460:10765:11047,LH00995:48:23YTGFLT4:7:1204:38780:9996,LH00995:48:23YTGFLT4:7:1204:38788:10010,LH00995:48:23YTGFLT4:7:2176:17309:8286,LH00995:48:23YTGFLT4:1:1420:25230:26320,LH00995:48:23YTGFLT4:1:2485:46522:6171,LH00995:48:23YTGFLT4:2:2402:23757:28842,LH00995:48:23YTGFLT4:2:2402:23765:28856,LH00995:48:23YTGFLT4:3:1283:1655:15363,LH00995:48:23YTGFLT4:3:2416:32648:6465,LH00995:48:23YTGFLT4:4:2149:11485:9435,LH00995:48:23YTGFLT4:5:2157:12633:5204,LH00995:48:23YTGFLT4:6:1470:33862:7754,LH00995:48:23YTGFLT4:6:2295:20974:25199,LH00995:48:23YTGFLT4:7:1402:47566:25802

PTK2

SLC45A4

-/-

chr8:140789474

chr8:141221765

CDS/splice-site

duplication

7316

410

medium

in-frame

FERM_N-terminal_domain(100%),FERM_central_domain(100%)|MFS/sugar_transport_protein(99%)

ENSG00000169398.19

ENSG00000022567.10

ENST00000522684.5

ENST00000517878.6

upstream

downstream

duplicates(9)

GGAACCTCGCAGTCATTTATCATCAGACCTCAGAAAG___AAGGTGAACGGGCTTTGCCATCAATACCAAA___GTTGGCCAACAGCGAAAAGCAAGGCATGCGGACACACGCCGTCTCTGTGTCAG|GCCTTCCGGAGCAGTACTACAGCCTCACCTGGTTCCTGAGCCCCATCCTTGGCCTCATCTTCACACCTCTCATTGGGTCTGCGAGTGACCGGTGCACCCTGA

GTSQSFIIRPQKEGERALPSIPKLANSEKQGMRTHAVSVS|gLPEQYYSLTWFLSPILGLIFTPLIGSASDRCTL

LH00995:48:23YTGFLT4:1:1389:5716:11747,LH00995:48:23YTGFLT4:1:2121:1186:7235,LH00995:48:23YTGFLT4:2:1361:14753:1841,LH00995:48:23YTGFLT4:3:1233:30593:10024,LH00995:48:23YTGFLT4:3:2225:12601:21010,LH00995:48:23YTGFLT4:3:2270:26856:2850,LH00995:48:23YTGFLT4:4:1419:43044:25564,LH00995:48:23YTGFLT4:4:1467:16395:22453,LH00995:48:23YTGFLT4:4:2157:8629:25199,LH00995:48:23YTGFLT4:4:2356:51376:17549,LH00995:48:23YTGFLT4:4:2411:14090:12826,LH00995:48:23YTGFLT4:5:1334:22964:14354,LH00995:48:23YTGFLT4:5:1456:27195:3999,LH00995:48:23YTGFLT4:5:1456:27204:4013,LH00995:48:23YTGFLT4:7:1349:45414:11229,LH00995:48:23YTGFLT4:2:2412:4649:24050,LH00995:48:23YTGFLT4:3:2246:9850:7726,LH00995:48:23YTGFLT4:5:2306:22471:12182,LH00995:48:23YTGFLT4:7:1349:15133:20099

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

469

286

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(14),mismatches(4)

TATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGAAACTC

LH00995:48:23YTGFLT4:2:2147:25294:2051,LH00995:48:23YTGFLT4:2:2433:30084:11635,LH00995:48:23YTGFLT4:3:1116:42138:5610,LH00995:48:23YTGFLT4:7:1448:40083:13989,LH00995:48:23YTGFLT4:7:1448:40091:14003,LH00995:48:23YTGFLT4:1:1161:51118:23490,LH00995:48:23YTGFLT4:1:1217:39759:12784,LH00995:48:23YTGFLT4:1:1425:48577:8581,LH00995:48:23YTGFLT4:1:1434:12739:3760,LH00995:48:23YTGFLT4:1:2344:6873:11677,LH00995:48:23YTGFLT4:2:2138:28360:3830,LH00995:48:23YTGFLT4:3:2251:21573:9141,LH00995:48:23YTGFLT4:3:2394:50802:6773,LH00995:48:23YTGFLT4:4:2280:6056:16596,LH00995:48:23YTGFLT4:4:2323:29444:15909,LH00995:48:23YTGFLT4:5:1184:18353:23994,LH00995:48:23YTGFLT4:5:1218:24218:22159,LH00995:48:23YTGFLT4:5:2374:20246:5246,LH00995:48:23YTGFLT4:6:1101:14753:7950,LH00995:48:23YTGFLT4:6:1203:32041:29151,LH00995:48:23YTGFLT4:6:2109:24024:20645,LH00995:48:23YTGFLT4:6:2242:1971:21150,LH00995:48:23YTGFLT4:6:2431:32098:7446,LH00995:48:23YTGFLT4:7:1106:47534:18768,LH00995:48:23YTGFLT4:7:1121:20044:15825,LH00995:48:23YTGFLT4:7:1223:34088:16526,LH00995:48:23YTGFLT4:7:1293:1000:24401

TMEM134

GAB4

-/-

chr11:67464803

chr22:16970193

CDS/splice-site

translocation

5202

medium

out-of-frame

Transmembrane_proteins_230/134(81%)|

ENSG00000172663.9

ENSG00000215568.9

ENST00000308022.7

ENST00000400588.5

upstream

downstream

duplicates(16)

CCTTTGATCCAGAAGAACCGCCGAGTGGTGCTGGCCTCCTTCCTGCTCCTGCTGCTGGGGCTGG___TGCTGATCCTGGTCGGCGTGGGACTGGAGGCGACCCCCTCTCCAG___GTGTCTCCAGCGCCATCTTCTTCGTGCCGGGCTTCCTGTTGTTGGTGCCTGGAG|GAGTGCCAGCTTCTCCCAGGGTTCTGAGGCCCCATTCATCATGAGGAGAAACACAGCCATGCAAAATCTTGCCCAGCACAGTGGATACAGTGTTGATGGGGTCAGCGGT

PLIQKNRRVVLASFLLLLLGLVLILVGVGLEATPSPGVSSAIFFVPGFLLLVPG|gvpasprvlrphss*

LH00995:48:23YTGFLT4:1:1129:17261:3578,LH00995:48:23YTGFLT4:1:1406:37486:29277,LH00995:48:23YTGFLT4:1:1484:14899:22439,LH00995:48:23YTGFLT4:1:2430:47420:13527,LH00995:48:23YTGFLT4:2:2116:24469:21668,LH00995:48:23YTGFLT4:2:2431:4641:25746,LH00995:48:23YTGFLT4:3:2171:4657:10304,LH00995:48:23YTGFLT4:3:2349:14996:23700,LH00995:48:23YTGFLT4:3:2357:24768:16778,LH00995:48:23YTGFLT4:4:2420:12002:26334,LH00995:48:23YTGFLT4:5:2285:35002:5134,LH00995:48:23YTGFLT4:6:1245:46385:8595,LH00995:48:23YTGFLT4:6:1448:6736:11523,LH00995:48:23YTGFLT4:7:2127:12164:3662,LH00995:48:23YTGFLT4:2:1210:50576:1392,LH00995:48:23YTGFLT4:2:1243:26208:21906,LH00995:48:23YTGFLT4:2:2226:26912:16764,LH00995:48:23YTGFLT4:2:2287:10481:1869,LH00995:48:23YTGFLT4:3:2334:34711:24695,LH00995:48:23YTGFLT4:4:1273:7860:20561,LH00995:48:23YTGFLT4:4:1289:18167:24709,LH00995:48:23YTGFLT4:4:1443:34331:14312,LH00995:48:23YTGFLT4:5:1397:30140:8483,LH00995:48:23YTGFLT4:7:2208:16096:26755,LH00995:48:23YTGFLT4:7:2303:12350:4265

TMEM134

GAB4

-/-

chr11:67465056

chr22:16970193

CDS/splice-site

translocation

4854

medium

out-of-frame

Transmembrane_proteins_230/134(68%)|

ENSG00000172663.9

ENSG00000215568.9

ENST00000308022.7

ENST00000400588.5

upstream

downstream

duplicates(7)

CACCCTTTGATCCAGAAGAACCGCCGAGTGGTGCTGGCCTCCTTCCTGCTCCTGCTGCTGGGGCTGG___TGCTGATCCTGGTCGGCGTGGGACTGGAGGCGACCCCCTCTCCAG|GAGTGCCAGCTTCTCCCAGGGTTCTGAGGCCCCATTCATCATGAGGAGAAACACAGCCATGCAAAATCTTGC

HPLIQKNRRVVLASFLLLLLGLVLILVGVGLEATPSP|gvpasprvlrphss*

LH00995:48:23YTGFLT4:1:1474:25076:10977,LH00995:48:23YTGFLT4:3:1344:11444:28086,LH00995:48:23YTGFLT4:4:1249:29719:9772,LH00995:48:23YTGFLT4:4:2243:5741:22467,LH00995:48:23YTGFLT4:6:1202:31046:29361,LH00995:48:23YTGFLT4:7:1326:4042:24092,LH00995:48:23YTGFLT4:2:1130:47631:20897,LH00995:48:23YTGFLT4:2:1319:3904:2415,LH00995:48:23YTGFLT4:5:1160:29736:10865

SLC7A14-AS1

PDPK1

+/+

chr3:170860047

chr16:2557703

exon

CDS/splice-site

translocation

5967

medium

|PH_domain(100%),Protein_kinase_domain(100%)

ENSG00000285051.2

ENSG00000140992.19

ENST00000644993.1

ENST00000342085.9

downstream

upstream

duplicates(11),mismatches(4)

GTCTCCTTTTAGTCTGCAGATGCCTCCAAGGAGTCCGAAACCAAGTCCGAAGTCAACaACAAGCAATGATGGCGATG|TATGACGCCGTGCCCATCCAGTCCAGtGTGGTGTTATGTTCCTGCCCATCCCCATCAATGGTGAGGACCCAGACTGAGTCCAGCACGCCCCCTGGC

LH00995:48:23YTGFLT4:2:2171:37518:2401,LH00995:48:23YTGFLT4:3:2152:14195:22229,LH00995:48:23YTGFLT4:5:2221:48456:4643,LH00995:48:23YTGFLT4:5:2482:36968:28941,LH00995:48:23YTGFLT4:6:1363:17673:29515,LH00995:48:23YTGFLT4:1:1107:21597:8847,LH00995:48:23YTGFLT4:1:2264:44573:19188,LH00995:48:23YTGFLT4:1:2484:1874:15993,LH00995:48:23YTGFLT4:2:1277:10846:1827,LH00995:48:23YTGFLT4:2:1380:8443:12882,LH00995:48:23YTGFLT4:2:2254:25254:15377,LH00995:48:23YTGFLT4:2:2254:25270:15377,LH00995:48:23YTGFLT4:3:1344:50050:20043,LH00995:48:23YTGFLT4:3:2272:4600:12280,LH00995:48:23YTGFLT4:4:1207:30739:19861,LH00995:48:23YTGFLT4:4:2154:23029:27385,LH00995:48:23YTGFLT4:5:1306:1097:7278,LH00995:48:23YTGFLT4:5:2114:19753:17899,LH00995:48:23YTGFLT4:5:2311:35544:15068,LH00995:48:23YTGFLT4:5:2383:44015:22397,LH00995:48:23YTGFLT4:5:2389:31394:29151,LH00995:48:23YTGFLT4:6:2195:50381:27035,LH00995:48:23YTGFLT4:6:2254:40811:14830

WAC

PLPP4

+/+

chr10:28535757

chr10:120503818

CDS/splice-site

deletion

2731

700

medium

out-of-frame

|PAP2_superfamily(100%)

ENSG00000095787.24

ENSG00000203805.11

ENST00000680735.1

ENST00000398250.6

downstream

upstream

duplicates(10)

GCGGTGATCACAGACATGAAAAGATGCGAGACGCCGGAGATCCTTCACCACCAAATAAAATGTTGCGGAGATCTGATAGTCCTGAAAACAAATACAGTGACAGCACAGGTCACAGTAAGGCCAAAAATGTGCATACTCACAGAGTTAGAGAGAGGGATGGTG|TTTTACAGAGTTTTTGGATCCGTTCCAGAGAGTCATCCAGCCAGAAGAGATCTGGCTCTATAAAAATCCTTTGGTGCAATCAGATAACATACCTACCCGCCTCATGTTT

MKRCETPEILHHQIKCCGDLIVLKTNTVTAQVTVRPKMCILTELERGMV|fyrvfgsvpeshparrdlal*

LH00995:48:23YTGFLT4:1:1373:47728:1757,LH00995:48:23YTGFLT4:1:1373:47736:1771,LH00995:48:23YTGFLT4:2:1253:44160:27834,LH00995:48:23YTGFLT4:3:1107:45641:19917,LH00995:48:23YTGFLT4:4:1247:45867:28912,LH00995:48:23YTGFLT4:4:2177:34274:5694,LH00995:48:23YTGFLT4:5:1231:35989:11747,LH00995:48:23YTGFLT4:5:1305:32980:4741,LH00995:48:23YTGFLT4:5:1322:44362:3270,LH00995:48:23YTGFLT4:5:2231:36402:19664,LH00995:48:23YTGFLT4:6:1196:9090:1953,LH00995:48:23YTGFLT4:6:2141:10894:16568,LH00995:48:23YTGFLT4:6:2320:23579:19034,LH00995:48:23YTGFLT4:7:1437:19138:8062,LH00995:48:23YTGFLT4:2:1138:48432:7740,LH00995:48:23YTGFLT4:3:2479:44589:25746,LH00995:48:23YTGFLT4:7:1115:52121:13009,LH00995:48:23YTGFLT4:7:1429:36094:18936

NEBL

HK1

-/-

+/-

chr10:21172383

chr10:69312124

CDS/splice-site

intron

duplication/5'-5'

1695

medium

out-of-frame

LIM_domain(92%)|

ENSG00000078114.19

ENSG00000156515.24

ENST00000417816.2

upstream

downstream

duplicates(4)

TTTCCATTGTGAGGTCTGCAAGATGGCACTCAACATGAACAACTACAAAGGCTATGAAAAGAAGCCCTATTGTAATGC|CAAATTCACGGAGGGGGAAGCGGAAGTTTTCCTTCCACCCTGCAGTGGCTTCTACTCCCCTTTGAAG___GTCCAGTGAAGGGGTCCAAGAACCTGCACC

FHCEVCKMALNMNNYKGYEKKPYCNa|kftegeaevflppcsgfysplkvq*

LH00995:48:23YTGFLT4:2:1458:2756:16484,LH00995:48:23YTGFLT4:2:2157:34048:25003,LH00995:48:23YTGFLT4:4:1358:2618:26951,LH00995:48:23YTGFLT4:4:2412:43715:12350,LH00995:48:23YTGFLT4:7:1297:10530:25634,LH00995:48:23YTGFLT4:7:1467:14381:23616,LH00995:48:23YTGFLT4:1:1171:50228:15699,LH00995:48:23YTGFLT4:1:1171:50236:15713,LH00995:48:23YTGFLT4:4:1396:35164:9477,LH00995:48:23YTGFLT4:4:2344:35536:17520

STK3

CDC42BPA

-/-

-/+

chr8:98526742

chr1:227099278

CDS/splice-site

intron

translocation/5'-5'

684

medium

out-of-frame

C_terminal_SARAH_domain_of_Mst1(6%),Protein_kinase_domain(100%)|

ENSG00000104375.17

ENSG00000143776.18

ENST00000523601.5

upstream

duplicates(3)

TAAGCAAGACTTCAAGAATAAGAGTCACGAAAACTGTAATCAGAACATGCATGAACCCTTCCCTATGTCCAAAAACGTTTTTCCTGATAACTGGAAAGTTCCTCAAGATGGAGACTTTGACTTT|GCAGGTCCTTCAGGAAGTATTCCCGAA

KQDFKNKSHENCNQNMHEPFPMSKNVFPDNWKVPQDGDFDF|agpsgsip

LH00995:48:23YTGFLT4:1:1271:37009:16988,LH00995:48:23YTGFLT4:1:2427:9689:27988,LH00995:48:23YTGFLT4:3:2229:21427:4237,LH00995:48:23YTGFLT4:4:1282:50317:26923,LH00995:48:23YTGFLT4:4:2212:41474:26853,LH00995:48:23YTGFLT4:5:2208:11833:17689,LH00995:48:23YTGFLT4:6:1218:12593:27890,LH00995:48:23YTGFLT4:7:1331:13151:8651,LH00995:48:23YTGFLT4:7:1408:4608:24513

STK3

AL353689.3

-/-

+/+

chr8:98526742

chr1:227124255

CDS/splice-site

exon/splice-site

translocation

684

medium

out-of-frame

C_terminal_SARAH_domain_of_Mst1(6%),Protein_kinase_domain(100%)|

ENSG00000104375.17

ENSG00000287532.1

ENST00000523601.5

ENST00000655100.1

upstream

duplicates(1)

CTTTGATAAGCAAGACTTCAAGAATAAGAGTCACGAAAACTGTAATCAGAACATGCATGAACCCTTCCCTATGTCCAAAAACGTTTTTCCTGATAACTGGAAAGTTCCTCAAGATGGAGACTTTGACTTT|AAACTTAAAAATATTGGAGAACACTGCTGCTGGGAAACACAAGAGAA

FDKQDFKNKSHENCNQNMHEPFPMSKNVFPDNWKVPQDGDFDF|klknigehccwetqe

LH00995:48:23YTGFLT4:1:1181:21419:18263,LH00995:48:23YTGFLT4:1:1341:49055:8370,LH00995:48:23YTGFLT4:1:2449:32147:15489,LH00995:48:23YTGFLT4:2:1157:27163:27988,LH00995:48:23YTGFLT4:2:2479:13353:26096,LH00995:48:23YTGFLT4:3:1281:31823:2794,LH00995:48:23YTGFLT4:5:1245:8774:21892

THBS1

AC013652.1

+/-

-/-

chr15:39587321

chr15:39071608

intron

exon/splice-site

deletion/3'-3'

5030

medium

ENSG00000137801.11

ENSG00000259345.7

ENST00000560484.1

upstream

downstream

duplicates(1)

CTCACATCGGTTGTTGAGGCTATCGCAGGAGCGGCCGCGCTGCTGAATTCCATTGCCACAGCTCGTAGAACAGGAGGTCCACTCGGACCATGGAGACCAGCCATCGTCCGCAGAGTCGCTGGCTGCAGGGGAAACAGAGGTTCATCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAGGTAAAGAAACTATCTGCCAaTTGCAGTTGAAATCCATCAGCTT

LH00995:48:23YTGFLT4:6:1195:51692:17058,LH00995:48:23YTGFLT4:1:1121:27454:17647,LH00995:48:23YTGFLT4:3:1298:19105:18095,LH00995:48:23YTGFLT4:4:1268:29355:10654,LH00995:48:23YTGFLT4:5:1398:34719:19356,LH00995:48:23YTGFLT4:5:2398:49354:5974,LH00995:48:23YTGFLT4:7:1345:40164:20127

SGSM1

TRIT1

+/+

-/+

chr22:24806484

chr1:39877448

CDS/splice-site

intron

translocation/5'-5'

160

medium

out-of-frame

ENSG00000167037.19

ENSG00000043514.17

ENST00000400358.9

downstream

upstream

duplicates(13),mismatches(1)

CACCGCCGCCACCGCCTCCTGGGACTCGGAACGCAGCGCTCGGAGCCATGGCCTCGGCCCCCGCGG___AGGCGGAGACCCGACAGAGGCTGCTACGCACCGTCAAGAAGGAG|GTTTAAACAAACACAAAAGGAACTGTGCTCCTATGTACGGCTACTGCTTCTCCAC

MASAPAEAETRQRLLRTVKKE|v*

LH00995:48:23YTGFLT4:1:1146:17698:16470,LH00995:48:23YTGFLT4:1:1206:7472:2541,LH00995:48:23YTGFLT4:1:1206:7480:2555,LH00995:48:23YTGFLT4:1:1385:17803:24723,LH00995:48:23YTGFLT4:1:2266:18612:14662,LH00995:48:23YTGFLT4:1:2344:50300:22523,LH00995:48:23YTGFLT4:2:1270:16290:3550,LH00995:48:23YTGFLT4:2:1308:22714:10668,LH00995:48:23YTGFLT4:2:2189:33182:29165,LH00995:48:23YTGFLT4:2:2205:37866:14746,LH00995:48:23YTGFLT4:3:2466:3500:22313,LH00995:48:23YTGFLT4:4:1418:8613:22060,LH00995:48:23YTGFLT4:4:2231:17989:14340,LH00995:48:23YTGFLT4:4:2287:24785:1448,LH00995:48:23YTGFLT4:4:2419:9648:6367,LH00995:48:23YTGFLT4:4:2450:1671:22537,LH00995:48:23YTGFLT4:5:1302:8807:6591,LH00995:48:23YTGFLT4:6:1170:45673:9463,LH00995:48:23YTGFLT4:7:1356:30092:24737

AC009166.3(5996),SOD1P2(5623)

CANX

./+

+/+

chr16:51101948

chr5:179726683

intergenic

CDS/splice-site

translocation

18184

medium

|Calreticulin_family(0%)

ENSG00000127022.16

ENST00000680406.1

downstream

upstream

AGAGAGAGAGAGAGAGAGAAACTTGAAG|AGAAACAGAAAAGTGATGCTGAAGAAGATGGTGGCACTGTCAGTCAAGAGGAGGAAGACAGAAAACCTAAAGCAGAG___GAGGATGAAATTTTGAACAGATCACCAAGAAACAGAAAGCCACGAAGAGAGTGAAACAATCTTAAGAGCTTGATCTGTGATTTCTT

LH00995:48:23YTGFLT4:1:2491:25068:12168,LH00995:48:23YTGFLT4:6:1467:17609:22537,LH00995:48:23YTGFLT4:6:2256:36547:21878

AC107391.1(64121),AC105924.1(19679)

EZR

./-

-/-

chr4:189268998

chr6:158769418

intergenic

CDS/splice-site

translocation

32506

medium

|Ezrin/radixin/moesin_family_C_terminal(67%)

ENSG00000092820.18

ENST00000367075.4

upstream

downstream

duplicates(7),mismappers(1)

GAGAGAGAGAGAGAGAGGAGCAGCTG|GCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGG___GCCAAAGAAGCCCAGGATGACCTGGTGAAGA

LH00995:48:23YTGFLT4:1:1366:50745:21136,LH00995:48:23YTGFLT4:1:1366:50754:21122,LH00995:48:23YTGFLT4:2:1185:4293:19006,LH00995:48:23YTGFLT4:3:1104:36491:11888,LH00995:48:23YTGFLT4:3:1125:42081:11341,LH00995:48:23YTGFLT4:3:1125:42089:11327,LH00995:48:23YTGFLT4:3:2374:26750:21640,LH00995:48:23YTGFLT4:4:2307:41766:16484,LH00995:48:23YTGFLT4:4:2343:30957:20659,LH00995:48:23YTGFLT4:4:2470:9939:6283,LH00995:48:23YTGFLT4:6:1294:22835:23770,LH00995:48:23YTGFLT4:6:1294:22851:23770,LH00995:48:23YTGFLT4:7:1302:27131:5008

RPL23AP53

SEPTIN14

-/-

chr8:232129

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

730

medium

ENSG00000223508.5

ENSG00000154997.9

ENST00000606507.1

ENST00000388975.4

upstream

downstream

duplicates(1),mismatches(1)

GCCGGTTGAAAGCGCGTGTCTGCGTCGGGTTCTGTTGGAGTGCGTTCGGTGTGCCGTGGGTCCGCGCTGCTTCCACCCAACTTCCTGTTAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCAGCTGAGCACCGATACAAAGAAAGACAAACATCGTAAGAAgcAATAGTTTCTCTTACTATTCTGAGAGCC

LH00995:48:23YTGFLT4:1:1263:29355:5722,LH00995:48:23YTGFLT4:3:1466:10142:13415,LH00995:48:23YTGFLT4:4:2117:27891:8398,LH00995:48:23YTGFLT4:6:1431:45406:20351,LH00995:48:23YTGFLT4:6:1466:36135:27974,LH00995:48:23YTGFLT4:4:1394:3330:24849

RPL23AP53

SEPTIN14

-/-

chr8:219290

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

730

low

ENSG00000223508.5

ENSG00000154997.9

ENST00000606975.1

ENST00000388975.4

upstream

downstream

ACCCAACTTCCTGTTAG___GACCCACCCGAGGACGGGTCACCATGGCTTTGGAGCACCTGGTAGTGTGGCATGTCCACAGTGAAGACCAGAGTTTCGTTGTCCTTAAGACTGACCTGGGGAGACGTGGCTGCAGGCCATTGAGGAAG|CcGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGA

LH00995:48:23YTGFLT4:7:2285:39452:18838

HIVEP3

NFYC

-/-

+/+

chr1:41628749

chr1:40738836

5'UTR/splice-site

inversion

2584

1209

medium

|Core_histone_H2A/H2B/H3/H4(100%)

ENSG00000127124.16

ENSG00000066136.20

ENST00000372583.6

ENST00000447388.7

upstream

duplicates(2)

GCACAAACCCAGCAGCCTCAACCTAGTTCATGGAGGAGCCTCGCGGGGTCCTGGCCAAGCAAGCCCGCCCCTCTGGTGGGAAGAGCGGCGCCTAGGTGGAGGGTGGCTGCCGTAGGAGTGGACATGAATGCTGGCTTTCAGAGAGAACAGCGTTTCAGTTTTGGTCATCGGAAGTGGTGCCTTCAGCACAG|TTGTCGAGATGTCCACAGAAGGAGGATTTGGTGGTACTAGCAGCAGTGATGCCCAGCAAAGCCTACAGTCGTTCTGGCCTCGGG

LH00995:48:23YTGFLT4:1:2177:19203:11705,LH00995:48:23YTGFLT4:2:2117:27511:21360,LH00995:48:23YTGFLT4:2:2168:29671:9351,LH00995:48:23YTGFLT4:4:1257:28296:26110,LH00995:48:23YTGFLT4:5:1237:47016:23952,LH00995:48:23YTGFLT4:7:2115:10538:23546

VWF

C12orf4

-/-

-/+

chr12:6029342

chr12:4487771

CDS/splice-site

3'UTR

inversion/5'-5'

3374

medium

out-of-frame

C8_domain(50%),Trypsin_Inhibitor_like_cysteine_rich_domain(74%),von_Willebrand_factor_type_D_domain(70%)|

ENSG00000110799.14

ENSG00000047621.12

ENST00000261405.10

upstream

TGAGACTCACTTTGAGGTGGTGGAGTCTGGCCGaTACATCATTCTGCTGCTGGGCAAAGCCCTCTCCGTGGTCTGGGACCGCCACCTGAGCATCTCCGTGGTCCTGAAGCAGACATACCAG|AATATTTTCCATCCACAGTTGGTTGAACAGAGTGCCATCTGTACCTAGAATGCTGTCTCAGCCCAAGGTACCTTCTTCACATCATTCATG

ETHFEVVESGRYIILLLGKALSVVWDRHLSISVVLKQTYQ|nifhpqlveqsaict*

LH00995:48:23YTGFLT4:3:2411:14098:14718,LH00995:48:23YTGFLT4:4:1132:13127:29543,LH00995:48:23YTGFLT4:5:1410:3427:24232,LH00995:48:23YTGFLT4:6:1345:23587:4979

ACSM4

VWF

+/+

-/-

chr12:7324598

chr12:6034826

CDS/splice-site

inversion

200

3450

medium

out-of-frame

AMP-binding_enzyme(100%),AMP-binding_enzyme_C-terminal_domain(33%)|C8_domain(49%),Trypsin_Inhibitor_like_cysteine_rich_domain(25%),VWA_N-terminal(100%),von_Willebrand_factor_type_A_domain(100%),von_Willebrand_factor_type_C_domain(100%),von_Willebrand_factor_type_D_domain(50%)

ENSG00000215009.5

ENSG00000110799.14

ENST00000399422.4

ENST00000261405.10

downstream

duplicates(7)

GCCATTTGAAGTGGAGAGTGCACTCATTGAGCATCCAGCAGTTGTTGAATCGGCTGTTGTCAGTAGTCCAGATCAAATCCGCGGAGAG|TGTCTGTCgGGACCGGAAGTGGAACTGCACAGACCATGTGTGTGATGCCACGTGCTCCACGATCGGCATGGCCCACTACCTCACCTTCGACGGGCTCAAATACCTGTTCC

PFEVESALIEHPAVVESAVVSSPDQIRGE|clsgpevelhrpcv*

LH00995:48:23YTGFLT4:1:1457:25553:3901,LH00995:48:23YTGFLT4:1:2448:10854:14620,LH00995:48:23YTGFLT4:2:1404:25157:23896,LH00995:48:23YTGFLT4:4:1155:28716:18515,LH00995:48:23YTGFLT4:4:1263:15869:29445,LH00995:48:23YTGFLT4:5:2143:33748:27848,LH00995:48:23YTGFLT4:5:2143:33756:27862,LH00995:48:23YTGFLT4:5:2348:36717:10879,LH00995:48:23YTGFLT4:6:1126:35965:18151,LH00995:48:23YTGFLT4:6:1246:27276:20841,LH00995:48:23YTGFLT4:7:1172:24526:26586

ACSM4

VWF

+/+

-/-

chr12:7325355

chr12:6034868

intron

inversion

medium

ENSG00000215009.5

ENSG00000110799.14

ENST00000261405.10

downstream

duplicates(7)

GGTAATACTCCATAGGAAAATTAGTTACTAAAAAGGAGGAACAGATACTGCATAGGCAAAAGCCACAGATTTCACTGAATGGAAAACTGTCATGGAATTCAGAATATCTTTTCTCACAGAAACAAGACAAATAG|CCAAGGTGCCCAACTTGTCATCTCTGCCATGACTGCTCCTAGTGTCTGTCgGGACCGGAAGTGGAACTGCACAGACCATGTGTGTGATGCCACGTGCTCCACGATCGGCATGGCCCACTACCTCACCTTCGACGGGCTCAAATACCTGTTCC

LH00995:48:23YTGFLT4:1:1337:15513:2597,LH00995:48:23YTGFLT4:3:2174:50883:12686,LH00995:48:23YTGFLT4:4:1122:5805:11733,LH00995:48:23YTGFLT4:4:1169:49726:16063,LH00995:48:23YTGFLT4:6:1433:34962:16105,LH00995:48:23YTGFLT4:7:1416:2553:3606,LH00995:48:23YTGFLT4:4:1328:37664:1280,LH00995:48:23YTGFLT4:4:1328:37680:1252,LH00995:48:23YTGFLT4:4:1328:37680:1280,LH00995:48:23YTGFLT4:4:1328:37688:1266,LH00995:48:23YTGFLT4:4:1328:37696:1252

VWF

FGF6(35489),C12orf4(6632)

-/-

./+

chr12:6029342

chr12:4481103

CDS/splice-site

intergenic

inversion

3374

medium

out-of-frame

C8_domain(50%),Trypsin_Inhibitor_like_cysteine_rich_domain(74%),von_Willebrand_factor_type_D_domain(70%)|

ENSG00000110799.14

ENST00000261405.10

upstream

GATGAGACTCACTTTGAGGTGGTGGAGTCTGGCCGaTACATCATTCTGCTGCTGGGCAAAGCC?TCTCCGTGGTCTGGGACCGCCACCTGAGCATCTCCGTGGTCCTGAAGCAGACATACCAG|ATGTCAACCTGCTTCCTGAATCTGAAGATTCATGTCCATCAATGTTGGGAAAGTTTTAGTCATGTTTTGTTACTGTCTTCTACCTGTTTCTGTC

DETHFEVVESGRYIILLLGKA?SVVWDRHLSISVVLKQTYQ|mstcflnlkihvhqcwesfshvlllsstcfc

LH00995:48:23YTGFLT4:3:1174:33473:11621,LH00995:48:23YTGFLT4:4:1432:51660:19833,LH00995:48:23YTGFLT4:5:2349:25974:19398,LH00995:48:23YTGFLT4:7:2129:41838:25045

AC024257.2

SETD2

-/+

-/-

chr12:48333905

chr3:47066717

intergenic

intron

translocation/3'-3'

medium

|SRI_(Set2_Rpb1_interacting)_domain(100%),WW_domain(100%)

ENSG00000258273.1

ENSG00000181555.21

downstream

duplicates(1),mismatches(2)

CCCGTCCGCTCCTCCAGCCGCTGCCTCCCgGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCtGGCGGTCGGGCGGCGGCGGCTGCCA|g|AGCAGACATTCTTAAACCTATACTTCTAGATGTCTTTGGGAGGGTCTTTACCTCAAGATATTTATATGCAGCTGGG

LH00995:48:23YTGFLT4:7:1444:24906:11271,LH00995:48:23YTGFLT4:1:1361:20909:29067,LH00995:48:23YTGFLT4:1:1361:20918:29081,LH00995:48:23YTGFLT4:3:1308:6016:10444,LH00995:48:23YTGFLT4:5:1383:34258:22369,LH00995:48:23YTGFLT4:5:2393:32066:11846,LH00995:48:23YTGFLT4:6:2468:38578:1406

MEX3A

HNRNPD

-/+

-/-

chr1:156082052

chr4:82355401

5'UTR

CDS/splice-site

translocation/3'-3'

7649

medium

ENSG00000254726.3

ENSG00000138668.19

ENST00000313899.12

downstream

GGGAGAGAGAGAGAGAGAGGTGGTG|ACCAGCAGAGTGGTTATGGGAAGGTATCCAGGCGAGGTGGTCATCAAAATAGCTACAAACCATACTAAATTATTCCATTTGCAACTTATCCCCAACAG___GTGGTGAAGCAGTATTTTCCAATTTGAAGATTCATTTGAAGGTGGCTCCTGCCACCTGCTAATAGCAGTTCAAACT

LH00995:48:23YTGFLT4:2:1478:46466:17422,LH00995:48:23YTGFLT4:6:2111:25974:27890,LH00995:48:23YTGFLT4:7:1416:4721:6913

TLK2

FAM157A

+/+

chr17:62560126

chr3:198180755

CDS/splice-site

exon/splice-site

translocation

1012

715

medium

out-of-frame

ENSG00000146872.18

ENSG00000236438.7

ENST00000582809.5

ENST00000634862.1

downstream

upstream

duplicates(7),mismatches(2),multimappers(6)

GGGAGCTGGCCTCTGCTTCACTTTTGTTTCA___GCCAACTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAAG|ATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAACGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGAAACTCAgCTGCCTCTGTCCCTCTGGGCACGCCTCATGCCAGGTGCATCTGTGGACAGGGGCCATGCTCCTGGGCTTCCAAAGTTGGAGAAAGCTGCCAGGCTCAG___GTCTGAAGGCC

GAGLCFTFVSANCDLRRQIDEQQKMLEKYKEqLNRCVTMSKKLLIEK|mmiiphllrdkdqrattatgprtrqcwgtenegvqlwpsqssggdetqlplslwarlmpgasvdrghapglpklekaarlrseg

LH00995:48:23YTGFLT4:1:2293:2359:12238,LH00995:48:23YTGFLT4:1:2355:31346:4209,LH00995:48:23YTGFLT4:2:1159:28959:12658,LH00995:48:23YTGFLT4:2:1242:5668:2275,LH00995:48:23YTGFLT4:2:1242:5676:2289,LH00995:48:23YTGFLT4:2:2147:25294:2051,LH00995:48:23YTGFLT4:2:2433:30084:11635,LH00995:48:23YTGFLT4:4:2497:23814:4895,LH00995:48:23YTGFLT4:5:1138:39808:7992,LH00995:48:23YTGFLT4:6:2187:9567:6871,LH00995:48:23YTGFLT4:6:2187:9575:6857,LH00995:48:23YTGFLT4:7:1448:40083:13989,LH00995:48:23YTGFLT4:7:1448:40091:14003,LH00995:48:23YTGFLT4:7:1496:48456:14956,LH00995:48:23YTGFLT4:7:1496:48464:14942,LH00995:48:23YTGFLT4:2:1175:49378:1224,LH00995:48:23YTGFLT4:2:2127:48504:3718,LH00995:48:23YTGFLT4:2:2455:23490:15068

BCL2L13

CR383658.1

+/+

chr22:17630985

chr14:18333708

intron

intergenic

translocation

medium

ENSG00000099968.18

ENSG00000215398.11

ENST00000514609.6

downstream

upstream

duplicates(1),mismatches(1)

CGCGCCCAGCCATAACCTTTTTTTAATAACCTTACTTTTTAACCTTTTATAACCTTCTTATAACCTTACTTTATAACCTTTATAACCTGGATTGGATCCAGGGTCA|GGGCCAGACGGGCCTGGAGTGCCCGAGCCCCTTCAGTCAGCTGGTCTACACCAATAATGACTCTTAAGTGATTCACCATGGGGATCTCAGGAAGATCCACAAAGCTGCCTCCCGGGGCCAAGCCTGGAAGCTGGAGAGGATGATGAAGAAAACGACA

LH00995:48:23YTGFLT4:2:1171:41466:21402,LH00995:48:23YTGFLT4:2:2449:24421:26292,LH00995:48:23YTGFLT4:3:1167:3467:20771,LH00995:48:23YTGFLT4:7:1474:1510:1350,LH00995:48:23YTGFLT4:7:1372:1356:7670

NEBL

CPEB3

-/-

-/+

chr10:20880794

chr10:92101058

CDS/splice-site

intron

inversion/5'-5'

913

medium

out-of-frame

LIM_domain(100%),Nebulin_repeat(16%)|

ENSG00000078114.19

ENSG00000107864.15

ENST00000377122.9

upstream

duplicates(2)

GCAAAATACAAAGGCACCATTAAAGCTGACCTTTCTAATTCTCTTTATAAGCGGATGCCAGCCACAATTGACAGTGTTTTTGCAGGAGAAGTTACACAGCTCCAGAGTGAG___GTGGCCTACAAGCAGAAACATGATGCTGCCAAAGGATTCTCAGATTATGCCCACATGAAGGAGCCCCCTGAGGTTAAACATGCCATGGAGGTCAATAAACACCAGAGTAAT|GTTACAACACCCATCACATGAACATCCTACTGCATAGGATTTCATTTTCATCTGTTCATCTCAAGGCAGTTCCAAATGGCAAACCATTC

AKYKGTIKADLSNSLYKRMPATIDSVFAGEVTQLQSEVAYKQKHDAAKGFSDYAHMKEPPEVKHAMEVNKHQSN|vttpit*

LH00995:48:23YTGFLT4:1:1232:11881:28422,LH00995:48:23YTGFLT4:1:1232:11889:28408,LH00995:48:23YTGFLT4:1:1244:24979:6661,LH00995:48:23YTGFLT4:4:1201:1615:1308,LH00995:48:23YTGFLT4:1:2387:1680:24541

SH3BP2

TNIP2

+/+

-/+

chr4:2820753

chr4:2743807

CDS/splice-site

intron

duplication/5'-5'

2151

medium

out-of-frame

PH_domain(17%)|

ENSG00000087266.17

ENSG00000168884.15

ENST00000503393.8

downstream

upstream

duplicates(3)

GCgGCTTCATGGCGGCTGAAGAGATGCATTGGCCTGTCCCTATGAAGGCCATTGGTGCCCAGAACCTGCTAACCATGCCTGGGGGCGTGGCCAAGGCTGGCTACCTGCACAAGAAGGGCGGTACCCAGCTtCAGCTGCTGAAAT|AGCACAAGTCAGTGAGGAGAAGGAAGAGGCCATGGGTCACACACTGAGGAACTTCATCGGTTCCCATTCATGCCAGGCCTCCCTCAAGGCACCCCATGGTAGGAAAAGCACTGAGCCCAGGGGTGGGGTGAGGGGCCCCTGCCCTGCAAGGCCCAGCTCCACGTGCCAGGCTGAGCTGGGGATGTTACTGGACACCCAGG

MAAEEMHWPVPMKAIGAQNLLTMPGGVAKAGYLHKKGGTQLQLLK|*

LH00995:48:23YTGFLT4:1:2226:34460:20701,LH00995:48:23YTGFLT4:1:2226:34476:20701,LH00995:48:23YTGFLT4:7:2203:10991:16932,LH00995:48:23YTGFLT4:2:2416:50074:3354,LH00995:48:23YTGFLT4:5:2175:37049:5064,LH00995:48:23YTGFLT4:7:1427:36669:19594

PMS2P7

CCDC146

+/+

chr7:73013277

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

2318

266

medium

ENSG00000229018.5

ENSG00000135205.15

ENST00000506558.2

ENST00000285871.5

downstream

upstream

duplicates(1)

CACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG

LH00995:48:23YTGFLT4:2:1219:21015:16806,LH00995:48:23YTGFLT4:4:2494:36208:11509,LH00995:48:23YTGFLT4:5:2358:39897:29193,LH00995:48:23YTGFLT4:5:2450:45171:8398

PMS2P7

CCDC146

+/+

chr7:73013277

chr7:77167658

exon/splice-site

5'UTR/splice-site

deletion

2318

284

low

ENSG00000229018.5

ENSG00000135205.15

ENST00000506558.2

ENST00000285871.5

downstream

upstream

duplicates(2),mismatches(2)

ACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGAGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCCCACAATTAACATTCAAGATGAGCGGTTTGTTGATTTATCTGAAACTtCAGCTTTCA

LH00995:48:23YTGFLT4:2:1324:48966:20547,LH00995:48:23YTGFLT4:3:1267:43877:16526,LH00995:48:23YTGFLT4:3:1267:43885:16512,LH00995:48:23YTGFLT4:3:1267:43885:16540,LH00995:48:23YTGFLT4:6:1356:6153:15026

PMS2P7

CCDC146

+/+

chr7:73016417

chr7:77254506

exon/splice-site

CDS/splice-site

deletion

1162

low

ENSG00000229018.5

ENSG00000135205.15

ENST00000506558.2

ENST00000285871.5

downstream

upstream

TTCGCCTTCTGCCGTGATTGTCAGcTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|CTTAAAGGAAGAAAAAATtATCATAGTAAAAGAATTTGAGAAGATAACAAAGCCAGGA___GAAATGGAGAAGAAGATGAAAA

LH00995:48:23YTGFLT4:5:2494:47582:10276

PMS2P7

CCDC146

+/+

chr7:73016417

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

1162

266

low

ENSG00000229018.5

ENSG00000135205.15

ENST00000506558.2

ENST00000285871.5

downstream

upstream

duplicates(2),mismappers(1),multimappers(2)

CTTCGCCTTCTGCCGTGATTGTCAGcTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAGGTATGC...___CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGCCAAACGTTTCACTGAGCAAAT

LH00995:48:23YTGFLT4:1:2318:1566:3999,LH00995:48:23YTGFLT4:1:2355:31257:14228,LH00995:48:23YTGFLT4:5:2213:16274:6325,LH00995:48:23YTGFLT4:7:1360:31257:19188,LH00995:48:23YTGFLT4:7:1361:41401:29165

SH3BP2

TNIP2(7398),SH3BP2(29331)

+/+

./+

chr4:2820753

chr4:2763740

CDS/splice-site

intergenic

duplication

2151

medium

out-of-frame

PH_domain(17%)|

ENSG00000087266.17

ENST00000503393.8

downstream

upstream

duplicates(5)

TGTCCCTATGAAGGCCATTGGTGCCCAGAACCTGCTAACCATGCCTGGGGGCGTGGCCAAGGCTGGCTACCTGCACAAGAAGGGCGGTACCCAGCTtCAGCTGCTGAAAT|GAGCAGAAAAGCGTAGGCGAGCAGCTGGCAGCCACCATCGCATTTGCTCCCGGAAGGCAAGAGGAGGCA

VPMKAIGAQNLLTMPGGVAKAGYLHKKGGTQLQLLK|*

LH00995:48:23YTGFLT4:1:1297:27066:2990,LH00995:48:23YTGFLT4:2:2213:23684:13975,LH00995:48:23YTGFLT4:3:2264:12747:4895,LH00995:48:23YTGFLT4:4:2265:10077:10500,LH00995:48:23YTGFLT4:4:2315:45932:12266,LH00995:48:23YTGFLT4:7:1134:15012:15012,LH00995:48:23YTGFLT4:7:1134:15020:14998,LH00995:48:23YTGFLT4:7:2272:31572:2892

TRIT1

PIWIL3

-/-

chr1:39883318

chr22:24762521

CDS/splice-site

5'UTR/splice-site

translocation

284

medium

out-of-frame

IPP_transferase(0%)|PAZ_domain(100%),Piwi_domain(100%)

ENSG00000043514.17

ENSG00000184571.13

ENST00000316891.10

ENST00000332271.9

upstream

downstream

duplicates(2)

GGCAAATCCACGCTGGCGTTGCAGCTAGGCCAGCGGCTCGGCGGTGAGATCGTCAGCGCTGACTCCATGCAG|GGTCATCACCTTCAGGACCACAATGCCTGGTAGGGCAAGGACTCGCGCCCGAGGCAGAGCCCGCCGCAGGGAGAGCTACCAACAAGAGGCACCTGGGGGACCCAGAGCACCTGGATCAGCTACA___ACCCAGGAGCCCCCTCAGTTGCAGTCGAC

GKSTLALQLGQRLGGEIVSADSMQ|ghhlqdhnaw*

LH00995:48:23YTGFLT4:6:2398:37259:20757,LH00995:48:23YTGFLT4:4:1381:42178:13387,LH00995:48:23YTGFLT4:5:2278:1607:26404,LH00995:48:23YTGFLT4:7:2248:33603:22971

TRIT1

PIWIL3

-/-

chr1:39883318

chr22:24758039

CDS/splice-site

translocation

284

low

out-of-frame

IPP_transferase(0%)|PAZ_domain(100%),Piwi_domain(100%)

ENSG00000043514.17

ENSG00000184571.13

ENST00000316891.10

ENST00000332271.9

upstream

downstream

duplicates(1)

GGCTCAGGGGCCTGCAACGGACCCTACCTCTTGTAGTGATTCTCGGGGCCACGGGCACCGGCAAATCCACGCTGGCGTTGtAGCTAGGCCAGCGGCTCGGCGGTGAGATCGTCAGCGCTGACTCCATGCAG|GGGTGAAGGAACCTGGACCTGAGGCTGGGTTGCATACAGCGCCCTTGCAGGAGAGAAGGATTGGTGGAG

LRGLQRTLPLVVILGATGTGKSTLAL*LGQRLGGEIVSADSMQ|g*

LH00995:48:23YTGFLT4:1:1371:12536:14284,LH00995:48:23YTGFLT4:1:1371:12544:14298

ZNF703

FP236383.3

+/+

chr8:37698690

chr21:8399951

3'UTR

intron

translocation

20130

12637

low

stop-codon

NocA-like_zinc-finger_protein_1(100%)|

ENSG00000183779.7

ENSG00000280441.3

ENST00000331569.6

downstream

upstream

duplicates(72),mismatches(3)

ACTTATCCACAGCGGGGGGCCTGGCCGTGCCGTCCCTCCCCACAGCCGGACCCTACTATTCGCCATACGCGCTGTATGGACAGAGACTAGCTTCAGCCTCGGCGCTGGGATACCAGTAACTACAGCTCTTCCTCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCC

LH00995:48:23YTGFLT4:1:1166:19728:23013,LH00995:48:23YTGFLT4:1:1201:6841:28100,LH00995:48:23YTGFLT4:1:1204:18596:21416,LH00995:48:23YTGFLT4:1:1304:15878:11551,LH00995:48:23YTGFLT4:1:1324:19923:27806,LH00995:48:23YTGFLT4:1:1364:11420:16554,LH00995:48:23YTGFLT4:1:1445:19008:11229,LH00995:48:23YTGFLT4:1:1463:13507:17394,LH00995:48:23YTGFLT4:1:1463:13515:17380,LH00995:48:23YTGFLT4:1:1479:28417:10010,LH00995:48:23YTGFLT4:1:1485:1542:2359,LH00995:48:23YTGFLT4:1:2101:14017:26264,LH00995:48:23YTGFLT4:1:2104:17293:27820,LH00995:48:23YTGFLT4:1:2133:9511:2822,LH00995:48:23YTGFLT4:1:2138:14316:13079,LH00995:48:23YTGFLT4:1:2272:49200:20421,LH00995:48:23YTGFLT4:1:2306:45964:15769,LH00995:48:23YTGFLT4:2:1135:7367:7488,LH00995:48:23YTGFLT4:2:1142:33910:24849,LH00995:48:23YTGFLT4:2:1187:19259:18165,LH00995:48:23YTGFLT4:2:1251:31524:9646,LH00995:48:23YTGFLT4:2:1365:20764:3704,LH00995:48:23YTGFLT4:2:1454:16460:7684,LH00995:48:23YTGFLT4:2:2121:21282:26460,LH00995:48:23YTGFLT4:2:2135:1194:13471,LH00995:48:23YTGFLT4:2:2142:8532:2331,LH00995:48:23YTGFLT4:2:2155:46466:8202,LH00995:48:23YTGFLT4:2:2183:1906:1841,LH00995:48:23YTGFLT4:2:2229:48310:25325,LH00995:48:23YTGFLT4:2:2315:24801:12602,LH00995:48:23YTGFLT4:2:2373:4487:22537,LH00995:48:23YTGFLT4:2:2409:12771:7376,LH00995:48:23YTGFLT4:2:2426:9859:20379,LH00995:48:23YTGFLT4:2:2475:22398:15166,LH00995:48:23YTGFLT4:3:1129:6445:28394,LH00995:48:23YTGFLT4:3:1245:31524:10318,LH00995:48:23YTGFLT4:3:1343:13628:18081,LH00995:48:23YTGFLT4:3:1387:44330:18179,LH00995:48:23YTGFLT4:3:1387:44338:18193,LH00995:48:23YTGFLT4:3:1416:22390:23420,LH00995:48:23YTGFLT4:3:1419:10231:15559,LH00995:48:23YTGFLT4:3:1429:24372:18641,LH00995:48:23YTGFLT4:3:1488:45762:28842,LH00995:48:23YTGFLT4:3:2114:49411:17002,LH00995:48:23YTGFLT4:3:2120:12350:11159,LH00995:48:23YTGFLT4:3:2173:36831:27497,LH00995:48:23YTGFLT4:3:2189:48634:15853,LH00995:48:23YTGFLT4:3:2201:37397:22117,LH00995:48:23YTGFLT4:3:2226:14082:5666,LH00995:48:23YTGFLT4:3:2381:15222:20589,LH00995:48:23YTGFLT4:3:2387:15141:21542,LH00995:48:23YTGFLT4:4:1126:50859:20099,LH00995:48:23YTGFLT4:4:1131:1922:25858,LH00995:48:23YTGFLT4:4:1133:27050:21178,LH00995:48:23YTGFLT4:4:1260:51255:18179,LH00995:48:23YTGFLT4:4:1326:32502:11817,LH00995:48:23YTGFLT4:4:1379:49192:14214,LH00995:48:23YTGFLT4:4:1379:49208:14214,LH00995:48:23YTGFLT4:4:1456:44662:10711,LH00995:48:23YTGFLT4:4:1456:44670:10725,LH00995:48:23YTGFLT4:4:1468:19219:8006,LH00995:48:23YTGFLT4:4:2143:36418:11649,LH00995:48:23YTGFLT4:4:2334:39646:9449,LH00995:48:23YTGFLT4:4:2370:18628:6675,LH00995:48:23YTGFLT4:4:2374:7618:4559,LH00995:48:23YTGFLT4:4:2463:22350:29571,LH00995:48:23YTGFLT4:5:1106:33967:7684,LH00995:48:23YTGFLT4:5:1248:29266:27399,LH00995:48:23YTGFLT4:5:1292:20788:8707,LH00995:48:23YTGFLT4:5:1295:2383:18585,LH00995:48:23YTGFLT4:5:1321:20780:16512,LH00995:48:23YTGFLT4:5:1321:20788:16526,LH00995:48:23YTGFLT4:5:1348:28279:16694,LH00995:48:23YTGFLT4:5:1375:36507:19538,LH00995:48:23YTGFLT4:5:1378:39719:11537,LH00995:48:23YTGFLT4:5:1461:20246:20855,LH00995:48:23YTGFLT4:5:1469:3047:5218,LH00995:48:23YTGFLT4:5:2111:31491:28618,LH00995:48:23YTGFLT4:5:2129:6954:9912,LH00995:48:23YTGFLT4:5:2204:45066:25143,LH00995:48:23YTGFLT4:5:2241:46830:6451,LH00995:48:23YTGFLT4:5:2247:17884:20827,LH00995:48:23YTGFLT4:5:2252:32769:20295,LH00995:48:23YTGFLT4:5:2269:18531:8272,LH00995:48:23YTGFLT4:5:2311:42712:17787,LH00995:48:23YTGFLT4:5:2395:23078:1967,LH00995:48:23YTGFLT4:5:2433:10271:10893,LH00995:48:23YTGFLT4:5:2479:3540:25353,LH00995:48:23YTGFLT4:6:1137:24542:15433,LH00995:48:23YTGFLT4:6:1139:16816:8665,LH00995:48:23YTGFLT4:6:1203:19372:24583,LH00995:48:23YTGFLT4:6:1257:10611:5876,LH00995:48:23YTGFLT4:6:1267:45835:12238,LH00995:48:23YTGFLT4:6:1321:51805:1336,LH00995:48:23YTGFLT4:6:1346:23231:19524,LH00995:48:23YTGFLT4:6:1366:2327:25045,LH00995:48:23YTGFLT4:6:1468:41701:3004,LH00995:48:23YTGFLT4:6:2109:4050:20099,LH00995:48:23YTGFLT4:6:2138:40868:3971,LH00995:48:23YTGFLT4:6:2187:18531:24863,LH00995:48:23YTGFLT4:6:2187:24679:24835,LH00995:48:23YTGFLT4:6:2189:50810:2303,LH00995:48:23YTGFLT4:6:2193:48893:23868,LH00995:48:23YTGFLT4:6:2268:16864:22649,LH00995:48:23YTGFLT4:6:2326:41539:5470,LH00995:48:23YTGFLT4:6:2352:20416:19272,LH00995:48:23YTGFLT4:6:2382:30270:2681,LH00995:48:23YTGFLT4:6:2391:45082:12896,LH00995:48:23YTGFLT4:6:2398:51457:5862,LH00995:48:23YTGFLT4:6:2398:51465:5848,LH00995:48:23YTGFLT4:6:2427:41304:26923,LH00995:48:23YTGFLT4:6:2458:48658:18165,LH00995:48:23YTGFLT4:7:1126:35294:28478,LH00995:48:23YTGFLT4:7:1272:26977:5106,LH00995:48:23YTGFLT4:7:1429:14907:13065,LH00995:48:23YTGFLT4:7:1454:20513:10612,LH00995:48:23YTGFLT4:7:1481:41757:10080,LH00995:48:23YTGFLT4:7:1481:41766:10094,LH00995:48:23YTGFLT4:7:2107:3791:20155,LH00995:48:23YTGFLT4:7:2137:4956:8216,LH00995:48:23YTGFLT4:7:2240:5927:18922,LH00995:48:23YTGFLT4:7:2268:18984:6002,LH00995:48:23YTGFLT4:7:2293:51109:19496

THSD4

+/+

chr15:71256715

chr15:71141449

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

9159

7940

low

out-of-frame

Thrombospondin_type_1_domain(6%)|ADAM-TS_Spacer_1(100%),PLAC_(protease_and_lacunin)_domain(100%),Thrombospondin_type_1_domain(100%)

ENSG00000187720.14

ENST00000355327.7

downstream

upstream

duplicates(15)

TCCGGGAGGTACAGTGTGCATCCTACAACAACAAGCCATTCATGGGCCGGTTTTATGAGTGGGAACCATTTGCAGAAG|GACTTGAACGCAACTCCCAATTGCAGAAAATTGGCAACGTCTCTGAAGAGCCCTTGCTTTTGCCTGGACCCCCAGCATCATGGTTTCCCATTTCATGGGGTCTCTCAG___TGTCCTGTGTTTCCTTCTGCTGCTTGGATTCCAGTTCGTCTGCCCACAGCCCTCC

REVQCASYNNKPFMGRFYEWEPFAE|glernsqlqkignvseeplllpgppaswfpiswglsvscvsfccldssssahsp

LH00995:48:23YTGFLT4:1:1315:14332:4671,LH00995:48:23YTGFLT4:1:2356:44039:15769,LH00995:48:23YTGFLT4:1:2426:50689:10725,LH00995:48:23YTGFLT4:1:2450:32106:7936,LH00995:48:23YTGFLT4:2:1140:40560:11369,LH00995:48:23YTGFLT4:2:1320:51740:25493,LH00995:48:23YTGFLT4:2:2319:1364:7039,LH00995:48:23YTGFLT4:2:2350:20667:20435,LH00995:48:23YTGFLT4:2:2480:47008:12448,LH00995:48:23YTGFLT4:3:1140:46814:7908,LH00995:48:23YTGFLT4:3:1465:22786:10823,LH00995:48:23YTGFLT4:3:2361:19267:19580,LH00995:48:23YTGFLT4:3:2419:12205:22285,LH00995:48:23YTGFLT4:4:1184:5255:18403,LH00995:48:23YTGFLT4:4:1209:18385:10851,LH00995:48:23YTGFLT4:4:2463:45908:13457,LH00995:48:23YTGFLT4:4:2487:22778:7810,LH00995:48:23YTGFLT4:5:1359:22390:3606,LH00995:48:23YTGFLT4:5:1479:3435:27077,LH00995:48:23YTGFLT4:5:2237:24307:19342,LH00995:48:23YTGFLT4:5:2453:16873:26054,LH00995:48:23YTGFLT4:6:1427:9300:2738,LH00995:48:23YTGFLT4:6:2228:5870:16834,LH00995:48:23YTGFLT4:6:2304:20788:18235,LH00995:48:23YTGFLT4:6:2406:25343:19258,LH00995:48:23YTGFLT4:6:2417:26451:24373,LH00995:48:23YTGFLT4:7:1337:1259:4727,LH00995:48:23YTGFLT4:7:2109:7423:9716,LH00995:48:23YTGFLT4:7:2152:42623:9225,LH00995:48:23YTGFLT4:7:2231:22972:15629,LH00995:48:23YTGFLT4:1:2350:39533:2219,LH00995:48:23YTGFLT4:1:2391:8435:20519,LH00995:48:23YTGFLT4:2:2198:35196:24723,LH00995:48:23YTGFLT4:3:2214:43626:19706,LH00995:48:23YTGFLT4:4:1205:22018:18151,LH00995:48:23YTGFLT4:4:1407:10004:23097,LH00995:48:23YTGFLT4:5:1257:47137:19006,LH00995:48:23YTGFLT4:5:1347:50737:1897,LH00995:48:23YTGFLT4:5:1347:50745:1883,LH00995:48:23YTGFLT4:5:1439:17512:23378,LH00995:48:23YTGFLT4:5:2415:31515:12126,LH00995:48:23YTGFLT4:6:1486:41685:14942,LH00995:48:23YTGFLT4:6:2442:37526:18109,LH00995:48:23YTGFLT4:7:1138:5975:23490,LH00995:48:23YTGFLT4:7:1298:1291:7726

LENG8

FP236383.3

+/+

chr19:54458670

chr21:8399955

CDS

intron

translocation

7178

12637

low

out-of-frame

SAC3/GANP_family(84%)|

ENSG00000167615.17

ENSG00000280441.3

ENST00000376514.6

downstream

upstream

duplicates(23),mismatches(1)

TTCTGCCTTTGCTCTTCCCATCCTTCCGCCTCGCACCGCCCCTCAGACCAGCTCCTGGCCGCAGGCCTCCCCCAGCCCCCAACCCTTGTCCTGGTCCTTGCTTCCCCATCATCTTTCTCCATTCAGCCC|CGCGCCCTCTCTCTCTCTCTCTCCCCC

LPLLFPSFRLAPPLRPAPGRRPPPAPNPCPGPCFPIIFLHSA|prplslslp

LH00995:48:23YTGFLT4:1:1351:51441:19510,LH00995:48:23YTGFLT4:1:2163:33481:20799,LH00995:48:23YTGFLT4:1:2330:39436:28646,LH00995:48:23YTGFLT4:1:2398:24542:28716,LH00995:48:23YTGFLT4:2:1467:42486:2653,LH00995:48:23YTGFLT4:2:2102:51482:2709,LH00995:48:23YTGFLT4:2:2248:17293:4951,LH00995:48:23YTGFLT4:2:2271:9462:11089,LH00995:48:23YTGFLT4:2:2385:16800:10402,LH00995:48:23YTGFLT4:2:2451:46895:28562,LH00995:48:23YTGFLT4:3:1251:17309:4027,LH00995:48:23YTGFLT4:3:1430:23862:20113,LH00995:48:23YTGFLT4:3:2195:39136:23448,LH00995:48:23YTGFLT4:3:2367:23183:27679,LH00995:48:23YTGFLT4:3:2382:26443:26544,LH00995:48:23YTGFLT4:3:2394:37178:17927,LH00995:48:23YTGFLT4:3:2410:24202:2709,LH00995:48:23YTGFLT4:3:2439:24024:20561,LH00995:48:23YTGFLT4:4:1213:27810:16554,LH00995:48:23YTGFLT4:4:1247:3314:27203,LH00995:48:23YTGFLT4:4:1301:18175:20996,LH00995:48:23YTGFLT4:4:1304:12544:8805,LH00995:48:23YTGFLT4:4:1381:1049:19132,LH00995:48:23YTGFLT4:4:1391:34064:7348,LH00995:48:23YTGFLT4:4:1496:31475:25732,LH00995:48:23YTGFLT4:4:2157:5328:25087,LH00995:48:23YTGFLT4:4:2396:25367:24288,LH00995:48:23YTGFLT4:4:2415:38457:29249,LH00995:48:23YTGFLT4:4:2481:4301:6549,LH00995:48:23YTGFLT4:5:1218:40204:29277,LH00995:48:23YTGFLT4:5:1484:27446:3256,LH00995:48:23YTGFLT4:5:1484:27462:3256,LH00995:48:23YTGFLT4:5:1487:10789:6465,LH00995:48:23YTGFLT4:5:1498:18571:10136,LH00995:48:23YTGFLT4:5:2121:33845:14704,LH00995:48:23YTGFLT4:5:2202:41523:20267,LH00995:48:23YTGFLT4:5:2439:50567:2219,LH00995:48:23YTGFLT4:5:2483:33522:27007,LH00995:48:23YTGFLT4:6:1112:13685:14396,LH00995:48:23YTGFLT4:6:1248:18175:2724,LH00995:48:23YTGFLT4:6:1426:28166:19468,LH00995:48:23YTGFLT4:6:2338:2060:28814,LH00995:48:23YTGFLT4:6:2343:22544:24835,LH00995:48:23YTGFLT4:6:2406:25796:26657,LH00995:48:23YTGFLT4:6:2449:20149:19426,LH00995:48:23YTGFLT4:6:2451:23773:5722,LH00995:48:23YTGFLT4:6:2471:27454:23504,LH00995:48:23YTGFLT4:6:2478:35172:16554,LH00995:48:23YTGFLT4:7:1189:7545:6367,LH00995:48:23YTGFLT4:7:1189:7553:6381,LH00995:48:23YTGFLT4:7:1268:18191:29263,LH00995:48:23YTGFLT4:7:1336:17455:19580

NPEPPS

FP671120.4

+/+

chr17:47531345

chr21:8214653

CDS

intron

translocation

10260

14772

low

out-of-frame

ENSG00000141279.17

ENSG00000278996.1

ENST00000677120.1

downstream

upstream

duplicates(16),mismatches(15),multimappers(2)

TCTCTCCCCCGCCCCCCAGGCTCCCCCGGTCGCTCTCCTCCGGCGGTCGCCCGCGCTCGGTGGATGTGGCTGGCAGCTGCCGCCCCCTCCCTCGCTCGCCGCCTGCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

MWLAAAAPSLARRLL|vrpsvrppp

LH00995:48:23YTGFLT4:1:1227:38764:2205,LH00995:48:23YTGFLT4:1:1323:33012:12308,LH00995:48:23YTGFLT4:1:1340:15287:7754,LH00995:48:23YTGFLT4:1:1473:17762:11369,LH00995:48:23YTGFLT4:1:2102:48974:5176,LH00995:48:23YTGFLT4:1:2116:9211:4769,LH00995:48:23YTGFLT4:1:2134:8273:3844,LH00995:48:23YTGFLT4:1:2344:31329:26124,LH00995:48:23YTGFLT4:1:2349:34913:14928,LH00995:48:23YTGFLT4:1:2384:2618:5260,LH00995:48:23YTGFLT4:2:1176:16500:15853,LH00995:48:23YTGFLT4:2:1218:8613:22145,LH00995:48:23YTGFLT4:2:1222:19672:28969,LH00995:48:23YTGFLT4:2:1343:11218:16512,LH00995:48:23YTGFLT4:2:1443:21775:12518,LH00995:48:23YTGFLT4:2:2112:45924:28310,LH00995:48:23YTGFLT4:2:2153:33886:27189,LH00995:48:23YTGFLT4:2:2228:14073:21262,LH00995:48:23YTGFLT4:2:2252:32163:9379,LH00995:48:23YTGFLT4:2:2472:30294:4994,LH00995:48:23YTGFLT4:3:1323:43327:10921,LH00995:48:23YTGFLT4:3:1331:43028:5274,LH00995:48:23YTGFLT4:3:1398:36539:15755,LH00995:48:23YTGFLT4:3:1453:18628:29319,LH00995:48:23YTGFLT4:3:2133:25966:8651,LH00995:48:23YTGFLT4:3:2288:34574:26278,LH00995:48:23YTGFLT4:3:2298:20732:4349,LH00995:48:23YTGFLT4:3:2405:13200:20477,LH00995:48:23YTGFLT4:4:1132:46935:2597,LH00995:48:23YTGFLT4:4:1148:25286:18263,LH00995:48:23YTGFLT4:4:1402:23555:15517,LH00995:48:23YTGFLT4:4:1487:18563:20547,LH00995:48:23YTGFLT4:4:2167:35641:17142,LH00995:48:23YTGFLT4:4:2436:7949:19706,LH00995:48:23YTGFLT4:5:1265:30755:5148,LH00995:48:23YTGFLT4:5:1282:39516:7544,LH00995:48:23YTGFLT4:5:1297:24145:5022,LH00995:48:23YTGFLT4:5:2136:22770:7067,LH00995:48:23YTGFLT4:5:2195:49791:19482,LH00995:48:23YTGFLT4:5:2291:2375:7754,LH00995:48:23YTGFLT4:6:1186:22026:9001,LH00995:48:23YTGFLT4:6:1307:23183:27455,LH00995:48:23YTGFLT4:6:1321:38343:13359,LH00995:48:23YTGFLT4:6:1329:21136:2583,LH00995:48:23YTGFLT4:6:1344:28013:27497,LH00995:48:23YTGFLT4:6:1362:29752:24653,LH00995:48:23YTGFLT4:6:1459:24137:10697,LH00995:48:23YTGFLT4:6:2203:9171:22074,LH00995:48:23YTGFLT4:6:2343:5684:24947,LH00995:48:23YTGFLT4:6:2408:35002:4489,LH00995:48:23YTGFLT4:6:2474:3807:26264,LH00995:48:23YTGFLT4:7:1155:13143:18726,LH00995:48:23YTGFLT4:7:1204:38085:4699,LH00995:48:23YTGFLT4:7:1243:24639:13583,LH00995:48:23YTGFLT4:7:1272:24145:2611,LH00995:48:23YTGFLT4:7:1309:32616:19132,LH00995:48:23YTGFLT4:7:1352:49726:25844,LH00995:48:23YTGFLT4:7:1410:3273:2864,LH00995:48:23YTGFLT4:7:1426:3581:16820,LH00995:48:23YTGFLT4:7:2207:43642:21976

ATN1

FP671120.4

+/+

chr12:6936427

chr21:8214653

CDS

intron

translocation

14811

14772

low

out-of-frame

Atrophin-1_family(16%)|

ENSG00000111676.15

ENSG00000278996.1

ENST00000356654.8

downstream

upstream

duplicates(37),mismatches(20)

GTATGGGTGGACTTCCTCCTGGCCCAGAGAAGGGCCCAACTCTGGCTCCTTCACCCCACTCTCTGCCTCCTGCTTCCTCTTCTGCTCCAGCGCCCCCCATGAGGTTTCCTTATTCATCCTCTAGTAGTAGCTCTGCAGCAGCCTCCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

MGGLPPGPEKGPTLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASs|svrpsvlll

LH00995:48:23YTGFLT4:1:1143:44451:27665,LH00995:48:23YTGFLT4:1:1372:48812:12798,LH00995:48:23YTGFLT4:1:1374:12504:11509,LH00995:48:23YTGFLT4:1:1374:12512:11523,LH00995:48:23YTGFLT4:1:1382:11129:2738,LH00995:48:23YTGFLT4:1:1387:24380:4727,LH00995:48:23YTGFLT4:1:1387:24396:4727,LH00995:48:23YTGFLT4:1:2251:10837:29557,LH00995:48:23YTGFLT4:1:2321:19963:11902,LH00995:48:23YTGFLT4:1:2497:38174:19875,LH00995:48:23YTGFLT4:2:1128:48391:7109,LH00995:48:23YTGFLT4:2:1263:21047:27147,LH00995:48:23YTGFLT4:2:1324:14025:15124,LH00995:48:23YTGFLT4:2:1440:33562:18950,LH00995:48:23YTGFLT4:2:1444:47315:3172,LH00995:48:23YTGFLT4:2:2216:52048:17002,LH00995:48:23YTGFLT4:2:2236:21589:26797,LH00995:48:23YTGFLT4:3:1131:23029:4937,LH00995:48:23YTGFLT4:3:1132:25391:8272,LH00995:48:23YTGFLT4:3:1157:8912:7530,LH00995:48:23YTGFLT4:3:1174:35569:24162,LH00995:48:23YTGFLT4:3:1180:30666:18277,LH00995:48:23YTGFLT4:3:1236:36175:29137,LH00995:48:23YTGFLT4:3:1371:19534:3480,LH00995:48:23YTGFLT4:3:1385:17334:16848,LH00995:48:23YTGFLT4:3:1438:35666:14130,LH00995:48:23YTGFLT4:3:2169:43610:2051,LH00995:48:23YTGFLT4:3:2281:3872:4825,LH00995:48:23YTGFLT4:3:2341:31572:24499,LH00995:48:23YTGFLT4:3:2412:11986:28296,LH00995:48:23YTGFLT4:4:1205:18143:4937,LH00995:48:23YTGFLT4:4:1219:13944:16946,LH00995:48:23YTGFLT4:4:1238:25691:2065,LH00995:48:23YTGFLT4:4:1259:3945:26446,LH00995:48:23YTGFLT4:4:1286:39978:27511,LH00995:48:23YTGFLT4:4:1372:32276:24260,LH00995:48:23YTGFLT4:4:1424:46741:24933,LH00995:48:23YTGFLT4:4:1466:5126:6325,LH00995:48:23YTGFLT4:4:2223:38149:19468,LH00995:48:23YTGFLT4:4:2266:25383:8202,LH00995:48:23YTGFLT4:4:2266:50430:3382,LH00995:48:23YTGFLT4:4:2347:17131:2009,LH00995:48:23YTGFLT4:4:2385:43165:3550,LH00995:48:23YTGFLT4:4:2398:16727:12938,LH00995:48:23YTGFLT4:5:1112:51158:17927,LH00995:48:23YTGFLT4:5:1140:42647:15629,LH00995:48:23YTGFLT4:5:1140:42664:15629,LH00995:48:23YTGFLT4:5:1190:33093:12644,LH00995:48:23YTGFLT4:5:1203:9543:6493,LH00995:48:23YTGFLT4:5:1297:46927:9337,LH00995:48:23YTGFLT4:5:1312:25068:1154,LH00995:48:23YTGFLT4:5:2129:11752:3172,LH00995:48:23YTGFLT4:5:2132:31192:6689,LH00995:48:23YTGFLT4:5:2189:39905:4965,LH00995:48:23YTGFLT4:5:2189:39921:4965,LH00995:48:23YTGFLT4:5:2189:45843:11523,LH00995:48:23YTGFLT4:5:2387:12900:4657,LH00995:48:23YTGFLT4:5:2398:6380:19734,LH00995:48:23YTGFLT4:5:2463:25561:11117,LH00995:48:23YTGFLT4:5:2463:25569:11103,LH00995:48:23YTGFLT4:5:2465:37138:13009,LH00995:48:23YTGFLT4:5:2465:38845:15405,LH00995:48:23YTGFLT4:6:1110:33295:10164,LH00995:48:23YTGFLT4:6:1315:27260:23532,LH00995:48:23YTGFLT4:6:1396:45220:24877,LH00995:48:23YTGFLT4:6:1412:7610:27777,LH00995:48:23YTGFLT4:6:1438:16088:15335,LH00995:48:23YTGFLT4:6:2178:14704:16442,LH00995:48:23YTGFLT4:6:2261:52024:10038,LH00995:48:23YTGFLT4:6:2457:24089:10697,LH00995:48:23YTGFLT4:6:2486:43513:26124,LH00995:48:23YTGFLT4:6:2498:2537:9744,LH00995:48:23YTGFLT4:7:1132:18442:10220,LH00995:48:23YTGFLT4:7:1149:41466:11089,LH00995:48:23YTGFLT4:7:1149:41474:11103,LH00995:48:23YTGFLT4:7:1189:17657:4657,LH00995:48:23YTGFLT4:7:1321:11962:27077,LH00995:48:23YTGFLT4:7:1417:11355:7193,LH00995:48:23YTGFLT4:7:2227:8475:1280

PPDPF

FP236383.3

+/+

chr20:63521935

chr21:8444186

3'UTR

intron

translocation

7878

10589

low

stop-codon

Differentiation_and_proliferation_regulator(100%)|

ENSG00000125534.10

ENSG00000280441.3

ENST00000370179.8

downstream

upstream

duplicates(12),mismatches(9),multimappers(10)

TCCCCAGGCCTCCAGCAGCATGACCGCCTGTGGCCTGGCTCGGGACGCCCCGAGGAAGCAGCCCGGCGGTCAGTCCAGCACAGCCAGCGCTGGGCCCCCGTCCTGACCTGAGCGGTTACCACCAGCCCCAGGCCTGCGGAGGCGCTAGTCCACCAGAGCCCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCC

LH00995:48:23YTGFLT4:1:1104:43691:18641,LH00995:48:23YTGFLT4:1:1126:7957:11733,LH00995:48:23YTGFLT4:1:1127:27341:4223,LH00995:48:23YTGFLT4:1:1190:22333:27273,LH00995:48:23YTGFLT4:1:1190:22341:27287,LH00995:48:23YTGFLT4:1:1233:41588:20211,LH00995:48:23YTGFLT4:1:1367:37187:13121,LH00995:48:23YTGFLT4:1:1431:39945:13135,LH00995:48:23YTGFLT4:1:1484:28555:21822,LH00995:48:23YTGFLT4:1:2169:9527:27735,LH00995:48:23YTGFLT4:1:2205:36960:18529,LH00995:48:23YTGFLT4:1:2211:24526:7418,LH00995:48:23YTGFLT4:1:2333:30812:24583,LH00995:48:23YTGFLT4:1:2333:30828:24583,LH00995:48:23YTGFLT4:1:2344:8758:9001,LH00995:48:23YTGFLT4:1:2377:42227:1308,LH00995:48:23YTGFLT4:2:1131:13337:17801,LH00995:48:23YTGFLT4:2:1201:3111:28786,LH00995:48:23YTGFLT4:2:1497:14308:12812,LH00995:48:23YTGFLT4:2:2241:25618:6171,LH00995:48:23YTGFLT4:2:2274:3419:8384,LH00995:48:23YTGFLT4:2:2443:7893:19076,LH00995:48:23YTGFLT4:3:1157:4171:14704,LH00995:48:23YTGFLT4:3:2197:7302:1406,LH00995:48:23YTGFLT4:3:2441:35488:22845,LH00995:48:23YTGFLT4:4:1114:5547:4391,LH00995:48:23YTGFLT4:4:1391:19939:6675,LH00995:48:23YTGFLT4:4:2252:26718:7039,LH00995:48:23YTGFLT4:4:2333:39096:14101,LH00995:48:23YTGFLT4:4:2344:38853:25451,LH00995:48:23YTGFLT4:4:2347:20998:13723,LH00995:48:23YTGFLT4:5:1154:11258:19216,LH00995:48:23YTGFLT4:5:1190:16557:2303,LH00995:48:23YTGFLT4:5:1273:40196:2611,LH00995:48:23YTGFLT4:5:1292:35237:9155,LH00995:48:23YTGFLT4:5:1454:45980:10865,LH00995:48:23YTGFLT4:5:2231:1032:15881,LH00995:48:23YTGFLT4:5:2237:2238:21388,LH00995:48:23YTGFLT4:5:2328:15481:15573,LH00995:48:23YTGFLT4:6:1247:46555:14606,LH00995:48:23YTGFLT4:6:1414:21160:5680,LH00995:48:23YTGFLT4:6:1421:31645:25157,LH00995:48:23YTGFLT4:6:1435:28700:16638,LH00995:48:23YTGFLT4:6:2235:51247:14354,LH00995:48:23YTGFLT4:7:1185:51012:7502,LH00995:48:23YTGFLT4:7:1210:38974:27259,LH00995:48:23YTGFLT4:7:1296:5959:14326,LH00995:48:23YTGFLT4:7:2245:39759:9870,LH00995:48:23YTGFLT4:7:2281:15700:10823,LH00995:48:23YTGFLT4:7:2298:32972:9800

LRBA

-/-

chr4:150683551

chr4:150908857

CDS/splice-site

duplication/non-canonical_splicing

2756

2680

low

out-of-frame

Concanavalin_A-like_lectin/glucanases_superfamily(100%),Neurobeachin-like__DUF1088(52%),Neurobeachin/BDCP__DUF4704_alpha_solenoid_region(100%)|Beige/BEACH_domain(100%),Neurobeachin-like__DUF1088(100%),Neurobeachin/BDCP__DUF4704_alpha_solenoid_region(100%),PH_domain_associated_with_Beige/BEACH(100%),WD_domain__G-beta_repeat(100%)

ENSG00000198589.14

ENST00000357115.9

upstream

downstream

duplicates(15),mismatches(3)

GATGAGAAGATGTGTGATCATTTGATAAGAGCAGCAAAATATCGTGACCACGTGACAGCAACTCAACTAATCCAGAAAATTATCAACATTCTCACAGACAAGCATGGAGCCTGGGGAAATTCTGCAGTGAG|GGTACATTTAAATTCAAAGCAGAAAGCGACCTTTTCCTTGCTGAGCATCACAAACTTTTATTGTACGATGGGAAACTCTCTAGTGCCATTGCATTCACGTACAATCCACGGGCTACAGATGCCCAGCTTTGTC

DEKMCDHLIRAAKYRDHVTATQLIQKIINILTDKHGAWGNSAVr|vhlnskqkatfsllsitnfyctmgnslvplhsrtihglqmpsf

LH00995:48:23YTGFLT4:1:1175:42121:24583,LH00995:48:23YTGFLT4:1:1335:47590:11019,LH00995:48:23YTGFLT4:1:2328:21727:24821,LH00995:48:23YTGFLT4:1:2485:12917:28870,LH00995:48:23YTGFLT4:2:1340:22738:1546,LH00995:48:23YTGFLT4:2:2133:48788:27834,LH00995:48:23YTGFLT4:2:2245:3354:25732,LH00995:48:23YTGFLT4:3:1343:10692:3690,LH00995:48:23YTGFLT4:4:1102:7423:4951,LH00995:48:23YTGFLT4:4:1116:47995:17436,LH00995:48:23YTGFLT4:4:1388:21104:6955,LH00995:48:23YTGFLT4:4:2354:7100:29081,LH00995:48:23YTGFLT4:4:2493:43019:4307,LH00995:48:23YTGFLT4:5:1305:21775:2990,LH00995:48:23YTGFLT4:5:2216:38125:17352,LH00995:48:23YTGFLT4:6:1140:47987:13135,LH00995:48:23YTGFLT4:6:1238:1243:9463,LH00995:48:23YTGFLT4:6:2297:25262:17156,LH00995:48:23YTGFLT4:7:1293:51118:4349,LH00995:48:23YTGFLT4:7:2156:3443:19440,LH00995:48:23YTGFLT4:1:1471:7011:14690,LH00995:48:23YTGFLT4:1:1475:7173:9113,LH00995:48:23YTGFLT4:1:2355:46409:20323,LH00995:48:23YTGFLT4:2:1123:46733:23938,LH00995:48:23YTGFLT4:2:2402:30860:28254,LH00995:48:23YTGFLT4:3:1178:21735:12420,LH00995:48:23YTGFLT4:4:1402:23652:9828,LH00995:48:23YTGFLT4:4:2114:41466:26250,LH00995:48:23YTGFLT4:4:2215:14551:9449,LH00995:48:23YTGFLT4:4:2297:39428:21570,LH00995:48:23YTGFLT4:4:2297:39436:21556,LH00995:48:23YTGFLT4:5:1107:45786:18263,LH00995:48:23YTGFLT4:5:1445:26767:8609,LH00995:48:23YTGFLT4:6:2313:32171:28002,LH00995:48:23YTGFLT4:7:2177:36531:23420

CRTC2

FP236383.3

-/-

+/+

chr1:153951483

chr21:8399953

CDS

intron

translocation

5589

12637

low

out-of-frame

Transducer_of_regulated_CREB_activity__N_terminus(100%),Transducer_of_regulated_CREB_activity_middle_domain(100%)|

ENSG00000160741.17

ENSG00000280441.3

ENST00000368633.2

upstream

duplicates(46),mismatches(2)

CTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

QPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSa|prplslslp

LH00995:48:23YTGFLT4:1:1118:40164:12140,LH00995:48:23YTGFLT4:1:1118:40172:12126,LH00995:48:23YTGFLT4:1:1138:46175:26250,LH00995:48:23YTGFLT4:1:2184:21468:8511,LH00995:48:23YTGFLT4:1:2184:21476:8525,LH00995:48:23YTGFLT4:1:2212:27309:4195,LH00995:48:23YTGFLT4:1:2324:51045:28716,LH00995:48:23YTGFLT4:2:1149:2311:17310,LH00995:48:23YTGFLT4:2:1171:11444:8076,LH00995:48:23YTGFLT4:2:1246:29218:28212,LH00995:48:23YTGFLT4:2:1256:30990:17436,LH00995:48:23YTGFLT4:2:1278:33263:1813,LH00995:48:23YTGFLT4:2:1291:4018:1210,LH00995:48:23YTGFLT4:2:2189:45026:11117,LH00995:48:23YTGFLT4:2:2260:17843:27091,LH00995:48:23YTGFLT4:2:2468:28239:21696,LH00995:48:23YTGFLT4:2:2481:44589:25634,LH00995:48:23YTGFLT4:3:1172:41798:9281,LH00995:48:23YTGFLT4:3:1380:46110:5064,LH00995:48:23YTGFLT4:3:2178:9365:27595,LH00995:48:23YTGFLT4:3:2228:25513:6521,LH00995:48:23YTGFLT4:3:2311:38602:25157,LH00995:48:23YTGFLT4:3:2380:33781:6100,LH00995:48:23YTGFLT4:3:2485:17269:28898,LH00995:48:23YTGFLT4:4:1230:20278:23686,LH00995:48:23YTGFLT4:4:1261:4503:18698,LH00995:48:23YTGFLT4:4:1282:1663:24933,LH00995:48:23YTGFLT4:4:1315:12188:19342,LH00995:48:23YTGFLT4:4:1406:32745:20365,LH00995:48:23YTGFLT4:4:1441:1316:26040,LH00995:48:23YTGFLT4:4:1446:36232:24050,LH00995:48:23YTGFLT4:4:1447:50381:24821,LH00995:48:23YTGFLT4:4:2231:21718:9281,LH00995:48:23YTGFLT4:4:2350:12213:15769,LH00995:48:23YTGFLT4:4:2377:16767:22313,LH00995:48:23YTGFLT4:4:2388:16476:4041,LH00995:48:23YTGFLT4:4:2388:16492:4041,LH00995:48:23YTGFLT4:4:2455:36661:13275,LH00995:48:23YTGFLT4:5:1241:27624:11916,LH00995:48:23YTGFLT4:5:1291:39921:25592,LH00995:48:23YTGFLT4:5:1365:37284:11944,LH00995:48:23YTGFLT4:5:1372:31087:20715,LH00995:48:23YTGFLT4:5:1377:16209:13891,LH00995:48:23YTGFLT4:5:1407:15125:20505,LH00995:48:23YTGFLT4:5:1445:14365:16245,LH00995:48:23YTGFLT4:5:2156:20012:6773,LH00995:48:23YTGFLT4:5:2168:14963:19861,LH00995:48:23YTGFLT4:5:2252:10805:7782,LH00995:48:23YTGFLT4:6:1251:50551:8300,LH00995:48:23YTGFLT4:6:1287:38942:12462,LH00995:48:23YTGFLT4:6:1287:38958:12462,LH00995:48:23YTGFLT4:6:1368:40690:12210,LH00995:48:23YTGFLT4:6:1385:31758:25465,LH00995:48:23YTGFLT4:6:1385:31766:25451,LH00995:48:23YTGFLT4:6:2237:45317:13079,LH00995:48:23YTGFLT4:6:2364:26484:17086,LH00995:48:23YTGFLT4:7:1106:26475:11467,LH00995:48:23YTGFLT4:7:1183:23029:20491,LH00995:48:23YTGFLT4:7:1490:49273:23238,LH00995:48:23YTGFLT4:7:2174:25205:18599,LH00995:48:23YTGFLT4:7:2212:7593:1490,LH00995:48:23YTGFLT4:7:2221:1534:25970,LH00995:48:23YTGFLT4:7:2232:13127:20015,LH00995:48:23YTGFLT4:7:2266:21985:18235

ZNF280D

-/-

chr15:56666779

chr15:56666838

CDS

duplication/ITD

392

356

low

in-frame

Domain_of_unknown_function_(DUF4195)(100%)|

ENSG00000137871.21

ENST00000559237.5

upstream

downstream

duplicates(25)

AGTGCTTCTACCCTTCAGCTCTCACCTCCAAGGACTAAAAATATAACTGCTAAAAATCCTGCAAAATCTAATACAAGTAAACCTAATACAGTCAAATCCAACGCAAGTAAACCTAATACAAGTAAGCCTAATGGAAGTAAA|c|CTAATACAGTCAAATCCAACGCAAGTAAACCTAATACAAGTAAGCCTAATGGAAGTAAAc

SASTLQLSPPRTKNITAKNPAKSNTSKPNTVKSNASKPNTSKPNGSK|pNTVKSNASKPNTSKPNGSK

LH00995:48:23YTGFLT4:2:1363:34703:8483,LH00995:48:23YTGFLT4:2:2154:27996:23294,LH00995:48:23YTGFLT4:3:1127:21443:4489,LH00995:48:23YTGFLT4:3:1127:21443:4489,LH00995:48:23YTGFLT4:3:1127:21452:4475,LH00995:48:23YTGFLT4:3:1127:21452:4475,LH00995:48:23YTGFLT4:3:1397:50980:14760,LH00995:48:23YTGFLT4:3:2151:44273:14634,LH00995:48:23YTGFLT4:3:2151:44273:14634,LH00995:48:23YTGFLT4:3:2181:51862:9814,LH00995:48:23YTGFLT4:3:2181:51862:9814,LH00995:48:23YTGFLT4:3:2440:11752:13121,LH00995:48:23YTGFLT4:3:2440:11752:13121,LH00995:48:23YTGFLT4:4:1105:21905:9043,LH00995:48:23YTGFLT4:4:1105:21905:9043,LH00995:48:23YTGFLT4:4:1177:17860:23672,LH00995:48:23YTGFLT4:4:1177:17868:23686,LH00995:48:23YTGFLT4:4:1315:43610:18025,LH00995:48:23YTGFLT4:4:1315:43610:18025,LH00995:48:23YTGFLT4:5:1358:49661:20631,LH00995:48:23YTGFLT4:5:1358:49661:20631,LH00995:48:23YTGFLT4:5:2308:45244:10430,LH00995:48:23YTGFLT4:5:2308:45244:10430,LH00995:48:23YTGFLT4:5:2386:10352:3270,LH00995:48:23YTGFLT4:6:2243:43303:24050,LH00995:48:23YTGFLT4:6:2243:43303:24050,LH00995:48:23YTGFLT4:7:1365:32405:3746,LH00995:48:23YTGFLT4:7:1396:26152:3704,LH00995:48:23YTGFLT4:7:1453:47995:14130,LH00995:48:23YTGFLT4:7:2158:32244:17563,LH00995:48:23YTGFLT4:2:1363:34703:8483,LH00995:48:23YTGFLT4:2:2154:27996:23294,LH00995:48:23YTGFLT4:3:1397:50980:14760,LH00995:48:23YTGFLT4:4:1177:17860:23672,LH00995:48:23YTGFLT4:4:1177:17868:23686,LH00995:48:23YTGFLT4:5:2386:10352:3270,LH00995:48:23YTGFLT4:7:1365:32405:3746,LH00995:48:23YTGFLT4:7:1396:26152:3704,LH00995:48:23YTGFLT4:7:1453:47995:14130,LH00995:48:23YTGFLT4:7:2158:32244:17563

CALM3

FP236383.3

+/+

chr19:46609205

chr21:8399953

3'UTR

intron

translocation

5007

12637

low

stop-codon

EF-hand_domain_pair(100%),EF_hand(100%)|

ENSG00000160014.17

ENSG00000280441.3

ENST00000291295.14

downstream

upstream

duplicates(8),mismatches(1)

AGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAG___AGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCC

LH00995:48:23YTGFLT4:1:1466:21678:6577,LH00995:48:23YTGFLT4:1:2282:29768:25045,LH00995:48:23YTGFLT4:1:2307:35520:28394,LH00995:48:23YTGFLT4:2:1124:4632:24555,LH00995:48:23YTGFLT4:2:1282:32511:23518,LH00995:48:23YTGFLT4:2:1285:10498:1308,LH00995:48:23YTGFLT4:2:1421:13895:29277,LH00995:48:23YTGFLT4:2:1481:5538:3396,LH00995:48:23YTGFLT4:2:2174:38044:26460,LH00995:48:23YTGFLT4:3:1359:22374:8398,LH00995:48:23YTGFLT4:4:1229:38287:2219,LH00995:48:23YTGFLT4:4:1441:3023:26558,LH00995:48:23YTGFLT4:4:2476:40560:1645,LH00995:48:23YTGFLT4:5:1306:9608:3830,LH00995:48:23YTGFLT4:5:2157:14704:5204,LH00995:48:23YTGFLT4:5:2445:16492:23938,LH00995:48:23YTGFLT4:6:1217:30043:19692,LH00995:48:23YTGFLT4:7:1411:34031:24274,LH00995:48:23YTGFLT4:7:1420:22414:27245,LH00995:48:23YTGFLT4:7:2148:15344:27413,LH00995:48:23YTGFLT4:7:2211:22430:4937

SRRM2

FP236383.3

+/+

chr16:2769095

chr21:8399952

CDS

intron

translocation

16081

12637

low

out-of-frame

cwf21_domain(100%)|

ENSG00000167978.17

ENSG00000280441.3

ENST00000301740.13

downstream

upstream

duplicates(4)

TAGCCTTCCTGTGCAACCTGAGGTGGCACTGAAGAG___GGTCCCCAGCCCCACCCCAGCCCCAAAGGAGGCTGTTCGAGAGGGACGTCCTCCGGAGCCAACCCCAGCCAAACGGAAGAGGCGCTCTAGCAGTTCCAG|CCCCGCGCCCTCTCTCTCTCTCTCTCCC

SLPVQPEVALKRVPSPTPAPKEAVREGRPPEPTPAKRKRRSSSSs|papslsls

LH00995:48:23YTGFLT4:1:1453:41814:10542,LH00995:48:23YTGFLT4:1:2456:12480:21192,LH00995:48:23YTGFLT4:2:1123:19518:2780,LH00995:48:23YTGFLT4:2:1123:19526:2766,LH00995:48:23YTGFLT4:2:1251:29412:6072,LH00995:48:23YTGFLT4:2:2165:51587:21528,LH00995:48:23YTGFLT4:2:2178:14737:6297,LH00995:48:23YTGFLT4:2:2259:43011:18081,LH00995:48:23YTGFLT4:3:2185:8079:4965,LH00995:48:23YTGFLT4:4:1216:15902:22859,LH00995:48:23YTGFLT4:4:2146:50681:1715,LH00995:48:23YTGFLT4:4:2167:22900:10542,LH00995:48:23YTGFLT4:6:1126:3508:15152,LH00995:48:23YTGFLT4:6:1310:20440:10907,LH00995:48:23YTGFLT4:6:1458:21435:11733,LH00995:48:23YTGFLT4:6:2107:2181:24821,LH00995:48:23YTGFLT4:6:2428:2699:4699

LILRB5

FP236383.3

-/-

+/+

chr19:54252937

chr21:8397694

CDS

intron

translocation

1182

852

low

out-of-frame

Immunoglobulin_domain(100%)|

ENSG00000105609.17

ENSG00000280441.3

ENST00000316219.9

upstream

duplicates(15)

CCAGGAGCTCGTGGTCTCAG___GACCCTCTGGGGATCCCAGCCTCTCACCTACAGGCTCCACCCCCACACCTG___...GGCCCTGAGGACCAGCCCCTCACCCCCACGGGGTTGGATCCCCAGAGTG___GTCTGGGAAGGCACCTGGGGGTTGTGACTGGGGTCTCAGTGGCCTTCGTCC|GTCCGTCCGTCCGTCCTCCTCCTCCC

GPEDQPLTPTGLDPQSGLGRHLGVVTGVSVAFV|rpsvrppp

LH00995:48:23YTGFLT4:2:1266:8038:20337,LH00995:48:23YTGFLT4:2:1427:48205:19034,LH00995:48:23YTGFLT4:2:2282:9656:6465,LH00995:48:23YTGFLT4:3:1352:30634:28590,LH00995:48:23YTGFLT4:3:1352:30650:28590,LH00995:48:23YTGFLT4:3:1496:4729:10851,LH00995:48:23YTGFLT4:3:2274:36491:8497,LH00995:48:23YTGFLT4:3:2453:36984:16862,LH00995:48:23YTGFLT4:4:1317:41927:8525,LH00995:48:23YTGFLT4:4:1388:12949:23434,LH00995:48:23YTGFLT4:4:1391:19898:17927,LH00995:48:23YTGFLT4:4:1416:4171:8174,LH00995:48:23YTGFLT4:4:1421:7181:12322,LH00995:48:23YTGFLT4:4:1453:20926:15307,LH00995:48:23YTGFLT4:4:2285:11129:7894,LH00995:48:23YTGFLT4:4:2438:23773:23742,LH00995:48:23YTGFLT4:4:2498:31969:4111,LH00995:48:23YTGFLT4:5:1104:1493:15979,LH00995:48:23YTGFLT4:5:2294:25408:3480,LH00995:48:23YTGFLT4:5:2294:25416:3494,LH00995:48:23YTGFLT4:5:2441:24267:27399,LH00995:48:23YTGFLT4:6:1268:48626:19482,LH00995:48:23YTGFLT4:6:2241:40811:29683,LH00995:48:23YTGFLT4:6:2467:4018:28366,LH00995:48:23YTGFLT4:7:1272:15513:10304,LH00995:48:23YTGFLT4:7:1413:22091:11916,LH00995:48:23YTGFLT4:7:1491:3726:10879

MEGF9

FP236383.3

-/-

+/+

chr9:120713853

chr21:8399951

CDS

intron

translocation

7645

12637

low

out-of-frame

ENSG00000106780.9

ENSG00000280441.3

ENST00000373930.4

upstream

duplicates(25),mismappers(6)

CTCCGGCGGCGGAACGCACTTCGACCACCTCTCAGGCGCCGACCAGACCCGCGCCGACCACCCTTTCGACGACCACTGGCCCGGCGCCGACCACCCCTGTAGCGACCACCGTACCGGCGCCCACGAC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

PAAERTSTTSQAPTRPAPTTLSTTTGPAPTTPVATTVPAPTt|pralslsls

LH00995:48:23YTGFLT4:1:1188:26839:16245,LH00995:48:23YTGFLT4:1:2110:10514:24877,LH00995:48:23YTGFLT4:1:2124:23264:1757,LH00995:48:23YTGFLT4:2:1217:9778:18557,LH00995:48:23YTGFLT4:2:1273:25966:4923,LH00995:48:23YTGFLT4:2:1431:29566:15923,LH00995:48:23YTGFLT4:2:1458:46595:22691,LH00995:48:23YTGFLT4:2:2120:34064:24863,LH00995:48:23YTGFLT4:2:2120:38465:14186,LH00995:48:23YTGFLT4:2:2120:38473:14200,LH00995:48:23YTGFLT4:2:2120:38481:14186,LH00995:48:23YTGFLT4:2:2451:9203:12350,LH00995:48:23YTGFLT4:3:2333:43206:19090,LH00995:48:23YTGFLT4:3:2358:23336:16343,LH00995:48:23YTGFLT4:3:2358:23345:16357,LH00995:48:23YTGFLT4:4:1201:25723:25746,LH00995:48:23YTGFLT4:4:1253:39864:24877,LH00995:48:23YTGFLT4:4:1329:44395:9211,LH00995:48:23YTGFLT4:4:1401:34258:13093,LH00995:48:23YTGFLT4:4:1460:37704:23181,LH00995:48:23YTGFLT4:4:2120:4705:8791,LH00995:48:23YTGFLT4:4:2139:5530:24148,LH00995:48:23YTGFLT4:4:2159:4098:7263,LH00995:48:23YTGFLT4:4:2223:49945:24765,LH00995:48:23YTGFLT4:4:2397:7868:22032,LH00995:48:23YTGFLT4:5:1246:34428:5176,LH00995:48:23YTGFLT4:5:1410:25035:21752,LH00995:48:23YTGFLT4:5:1442:1267:29543,LH00995:48:23YTGFLT4:5:2142:39921:11832,LH00995:48:23YTGFLT4:5:2270:22382:24667,LH00995:48:23YTGFLT4:5:2329:44209:4097,LH00995:48:23YTGFLT4:6:1179:28522:22187,LH00995:48:23YTGFLT4:6:1338:3702:21514,LH00995:48:23YTGFLT4:7:1108:1777:3242,LH00995:48:23YTGFLT4:7:1193:13103:15096,LH00995:48:23YTGFLT4:7:2125:4802:11537,LH00995:48:23YTGFLT4:7:2140:24679:7179,LH00995:48:23YTGFLT4:7:2287:13119:19160

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

1803

158

low

stop-codon

emp24/gp25L/p24_family/GOLD(86%)|TIR_domain(100%)

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(11)

CGAGTCAGTGCTCTTACCCAG___ATGGAATCTGCCTGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGA

LH00995:48:23YTGFLT4:1:1198:13968:16203,LH00995:48:23YTGFLT4:2:1139:13200:24064,LH00995:48:23YTGFLT4:2:1188:24501:28478,LH00995:48:23YTGFLT4:2:2238:3023:18543,LH00995:48:23YTGFLT4:3:1255:43335:12112,LH00995:48:23YTGFLT4:4:1383:7383:13373,LH00995:48:23YTGFLT4:5:1141:19025:15517,LH00995:48:23YTGFLT4:5:1160:10562:14031,LH00995:48:23YTGFLT4:5:1221:35536:8721,LH00995:48:23YTGFLT4:5:1309:19866:16470,LH00995:48:23YTGFLT4:5:2127:16687:3901,LH00995:48:23YTGFLT4:6:1238:14802:5176,LH00995:48:23YTGFLT4:6:2396:34525:29109,LH00995:48:23YTGFLT4:7:1190:5344:13877,LH00995:48:23YTGFLT4:7:1338:21265:21864,LH00995:48:23YTGFLT4:7:1439:30690:15601,LH00995:48:23YTGFLT4:7:2139:43820:1406

TMED7

TICAM2

-/-

chr5:115620435

chr5:115581315

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1793

158

low

out-of-frame

emp24/gp25L/p24_family/GOLD(62%)|TIR_domain(100%)

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

TTTTGATTTTCAAGTTGGAGAAGACCCACCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCC

FDFQVGEDPPLFPSENRVSALTQ|iekkc*

LH00995:48:23YTGFLT4:1:1329:11485:19524,LH00995:48:23YTGFLT4:6:1338:43545:16960

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48620851

CDS/splice-site

deletion/read-through

437

low

in-frame

Adaptor_complexes_medium_subunit_family(99%)|Transcription_factor_IIA__alpha/beta_subunit(100%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000403751.8

downstream

upstream

duplicates(1)

TCTGATTGGTATCCATTTGCTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGC

SDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|PKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSK

LH00995:48:23YTGFLT4:1:2297:8548:11747,LH00995:48:23YTGFLT4:2:2429:1938:9547,LH00995:48:23YTGFLT4:4:2101:20246:5526,LH00995:48:23YTGFLT4:4:2160:11517:7838,LH00995:48:23YTGFLT4:7:2298:48715:5008,LH00995:48:23YTGFLT4:2:1372:33093:17717,LH00995:48:23YTGFLT4:7:2159:46571:2471

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48621167

CDS/splice-site

deletion/read-through

223

low

out-of-frame

Adaptor_complexes_medium_subunit_family(63%)|Transcription_factor_IIA__alpha/beta_subunit(93%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000430487.6

downstream

upstream

GGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCA

KIDRLPDKNS|tlgnqgfav*

LH00995:48:23YTGFLT4:4:1379:42696:17787

H2BC21

PDE4DIPP7(3505),AC243772.1(2978)

-/-

./-

chr1:149886264

chr1:149751323

CDS

intergenic

deletion/read-through

14163

low

out-of-frame

Core_histone_H2A/H2B/H3/H4(100%)|

ENSG00000184678.10

ENST00000369155.3

upstream

downstream

duplicates(4)

CTACAACAAGCGCTCCACCATCACATCCCGCGAGATCCAGACGGCCGTGCGCCTGCTGCTGCCCGGCGAGCTGGCCAAGCACGCCGTGTCCGAGGGCACCAAGGCGGTCACCAAGTACACCAGCTCCAA|GTACTTTAACGAAAGAAGTCTCTCTACTGCATCTTGATGGCTGGTCACATCTCCCTGCACTCCTTGAACTCTCAGTCAAGGAG___AAATTACGCTGACATTGACCTCTAGAAAGCTCCATCTACCCTTCCTGGTGCCACCtGCtCATCCAAGGAATAGTCCCAAAAGaCTGTCCTCTCC

YNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSk|yfnerslstas*

LH00995:48:23YTGFLT4:4:2440:33902:27217,LH00995:48:23YTGFLT4:5:2113:3306:4461,LH00995:48:23YTGFLT4:6:2173:27705:15251,LH00995:48:23YTGFLT4:6:2358:16144:2345,LH00995:48:23YTGFLT4:6:2358:16161:2345,LH00995:48:23YTGFLT4:3:1198:4471:5890,LH00995:48:23YTGFLT4:4:2372:40681:7880,LH00995:48:23YTGFLT4:4:2411:33303:3873,LH00995:48:23YTGFLT4:6:1422:31499:27399,LH00995:48:23YTGFLT4:6:2314:48302:7768

H2BC21

AC243772.1(1566),FCGR1A(26395)

-/-

./-

chr1:149886264

chr1:149756276

CDS

intergenic

deletion/read-through

14163

low

out-of-frame

Core_histone_H2A/H2B/H3/H4(100%)|

ENSG00000184678.10

ENST00000369155.3

upstream

downstream

duplicates(6)

CAAGCGCTCCACCATCACATCCCGCGAGATCCAGACGGCCGTGCGCCTGCTGCTGCCCGGCGAGCTGGCCAAGCACGCCGTGTCCGAGGGCACCAAGGCGGTCACCAAGTACACCAGCTCCAA|GTAGATCCCTAGAATCCCAAAGAACCATCACGTCCCTGATTCGCATGCTAGAC

KRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSk|*

LH00995:48:23YTGFLT4:1:2198:48035:10612,LH00995:48:23YTGFLT4:2:2374:7593:29095,LH00995:48:23YTGFLT4:3:1403:27673:3760,LH00995:48:23YTGFLT4:3:2120:47283:16708,LH00995:48:23YTGFLT4:4:2190:50810:29571,LH00995:48:23YTGFLT4:4:2437:27268:3788,LH00995:48:23YTGFLT4:5:2138:37429:21220,LH00995:48:23YTGFLT4:5:2319:21678:25185,LH00995:48:23YTGFLT4:6:1146:16970:2149,LH00995:48:23YTGFLT4:6:1184:38845:24148,LH00995:48:23YTGFLT4:6:2449:21718:9057,LH00995:48:23YTGFLT4:7:1442:28676:23826

ME3

AP003059.2

-/+

+/+

chr11:86672451

chr11:86731599

5'UTR

intron

deletion/read-through/3'-3'

low

ENSG00000151376.18

ENSG00000255250.2

downstream

upstream

ACGCGGTCCCGCTGCGGAGCAGGCGGGGTGAGGAGCTGCGGTCTGTGAGTCCTCTCCCGCCAATGGGTGGACCGCGCTGGCGGCCGCGAGCTCGCGGAGCTG|TCTCCCTCTGATGCCGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCCGCCTCAGCCTGCtGAGTGCCTGCGATTGCAGGCGCGTGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTG

LH00995:48:23YTGFLT4:7:1367:2812:9968,LH00995:48:23YTGFLT4:3:1221:48877:13331,LH00995:48:23YTGFLT4:4:2205:15667:19286,LH00995:48:23YTGFLT4:4:2461:14292:28646,LH00995:48:23YTGFLT4:5:2189:27729:4727

RAD51D

RFFL

-/-

chr17:35101201

chr17:35026561

CDS/splice-site

5'UTR/splice-site

deletion/read-through

535

460

low

out-of-frame

Rad51(100%)|Zinc_finger__C3HC4_type_(RING_finger)(100%)

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

duplicates(13)

GCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTCCCCAACAGGCTTGGAACCAAGCTGCAAGTCCTGTGGGGCTCACTTTGCAAACACGGCCAGGAAGGTGAGTGCTGACTTCTTGGCCTGCTCTGCCACTGCAGCCTATGGACCATGGGCAAGC

FVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|ilscgqpaatgsawmdslrrshhprepgcrpiptlgtapslpqqawnqaaspvgltlqtrpgr*

LH00995:48:23YTGFLT4:1:1324:50470:6759,LH00995:48:23YTGFLT4:2:2396:26087:2023,LH00995:48:23YTGFLT4:3:1205:32422:28969,LH00995:48:23YTGFLT4:4:1293:7885:5470,LH00995:48:23YTGFLT4:4:1396:8742:1743,LH00995:48:23YTGFLT4:4:1409:46005:15699,LH00995:48:23YTGFLT4:4:2273:28983:15559,LH00995:48:23YTGFLT4:5:1145:39881:13079,LH00995:48:23YTGFLT4:5:1145:39889:13065,LH00995:48:23YTGFLT4:5:1222:24849:6745,LH00995:48:23YTGFLT4:6:1439:28061:15587,LH00995:48:23YTGFLT4:7:1492:42995:5218,LH00995:48:23YTGFLT4:7:2161:12836:13373,LH00995:48:23YTGFLT4:2:1443:2804:14410,LH00995:48:23YTGFLT4:3:1127:14980:4139,LH00995:48:23YTGFLT4:3:1127:14996:4139,LH00995:48:23YTGFLT4:5:1227:5644:1392,LH00995:48:23YTGFLT4:5:2103:49500:16568

FSIP1

AC013652.1(8574),AC109630.1(36934)

-/-

./-

chr15:39600845

chr15:39435769

3'UTR/splice-site

intergenic

deletion/read-through

2492

low

FSIP1_family(100%)|

ENSG00000150667.8

ENST00000642527.1

upstream

downstream

duplicates(1)

AGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|GAAATCCTGACAGGAAAGAGGCACACCCATGAAGAATTTAGCAAAACGGAG

LH00995:48:23YTGFLT4:2:1455:29833:10388,LH00995:48:23YTGFLT4:3:1339:28757:17913,LH00995:48:23YTGFLT4:3:1486:23636:9800,LH00995:48:23YTGFLT4:4:2369:34541:17563,LH00995:48:23YTGFLT4:5:1495:17487:5288

SLC29A3

CDH23

+/+

chr10:71356243

chr10:71439827

CDS/splice-site

5'UTR/splice-site

deletion/read-through

702

543

low

Nucleoside_transporter(28%)|Cadherin_domain(100%)

ENSG00000198246.9

ENSG00000107736.22

ENST00000373189.6

ENST00000224721.12

downstream

upstream

duplicates(12)

GCGGGACGGTCAGCGCCGTGGCCTCATTGGTGGACTTGGCTGCATCCAGTGATGTGAGGAACAGCGCCCTGGCCTTCTTCCTGACGGCCACcaTCTTCCTCGTGCTCTGCATGGGACTCTACCTGCTGCTGTCCAGGCTGGAGTATGCCAG|GAGCCATGGGGCGCCATGTTGCCACCAGCTGCCACGTGGCCTGGCTTTTGGTGCTGATCTCTGGATGCTGGG___GCCAGGTGAAC?GGCTGC

LH00995:48:23YTGFLT4:2:2446:7561:14942,LH00995:48:23YTGFLT4:2:2446:7569:14956,LH00995:48:23YTGFLT4:2:2446:7577:14942,LH00995:48:23YTGFLT4:4:1459:36378:1827,LH00995:48:23YTGFLT4:5:2221:48674:19118,LH00995:48:23YTGFLT4:5:2221:48682:19104,LH00995:48:23YTGFLT4:5:2221:48691:19090,LH00995:48:23YTGFLT4:7:1121:19874:24611,LH00995:48:23YTGFLT4:7:1153:10126:9996,LH00995:48:23YTGFLT4:7:1220:20529:7614,LH00995:48:23YTGFLT4:2:1344:13960:26390,LH00995:48:23YTGFLT4:4:1296:14235:5092,LH00995:48:23YTGFLT4:4:2363:40091:1645,LH00995:48:23YTGFLT4:4:2406:9325:28002,LH00995:48:23YTGFLT4:6:2102:15821:3915,LH00995:48:23YTGFLT4:6:2191:7909:22719

SLC29A3

CDH23

+/+

chr10:71375811

chr10:71439827

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

543

low

Nucleoside_transporter(100%)|Cadherin_domain(100%)

ENSG00000198246.9

ENSG00000107736.22

ENST00000644895.1

ENST00000224721.12

downstream

upstream

CAGATACTCATGGGCCAG|GAGCCATGGGGCGCCATGTTGCCACCAGCTGCCACGTGGCCTGGCTTTTGGTGCTGATCTCTGGATGCTGGG___GCCAGGTGAACCGGCT

LH00995:48:23YTGFLT4:5:2226:6113:4587

SPATA13

+/+

chr13:24017701

chr13:24222819

exon/splice-site

5'UTR/splice-site

deletion/read-through

172

low

|PH_domain(100%),RhoGEF_domain(100%),SH3_domain(100%)

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

duplicates(3)

AGAGCTTGTCTTCAAGAGTAGCTGGTGCAGAAACTCG|CCCGTGGCCACCCAGGAGCCCGATGTGCAAGGCAGGTGTGAGTGCCAGGACGGCATTCCTGGAGATGAAGGCCTGGAGCTGCGGTCTGCGGACTCGGCAGTGCCCGTGGCCATGACCCAGGCTGCCGTGCGGCCCTGGGCACCCTGCCTGGAGAACATGACCACTGCCCCAAACGGCCTCGGGCCAGGCCCCGCAGCCCCCTGTGCAGGCTCGGACCTGAAAGACGCCAAGATGGTGACCTCCCTTGCGTGTGGAAATGGAGTtTGT

LH00995:48:23YTGFLT4:1:1198:14300:26839,LH00995:48:23YTGFLT4:1:1198:14308:26825,LH00995:48:23YTGFLT4:2:1269:4891:3312,LH00995:48:23YTGFLT4:2:1269:4899:3326,LH00995:48:23YTGFLT4:4:1411:9211:20099,LH00995:48:23YTGFLT4:5:2456:27495:20043,LH00995:48:23YTGFLT4:7:1176:19874:7151

SPATA13

+/+

chr13:24017701

chr13:24249477

exon/splice-site

CDS/splice-site

deletion/read-through

894

low

|PH_domain(100%),RhoGEF_domain(100%),SH3_domain(100%)

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

AGAGCTTGTCTTCAAGAGTAGCTGGTGCAGAAACTCG|GTCGTCCCTGATGGCCCCTGGAGGCGAAGCTCATCACAGGATGAGGAAAGGACAGAGGCACAGAGAACCCCCAAGAGGAGATGGGGC

LH00995:48:23YTGFLT4:3:1430:23709:25059

ZNF547

ZNF548(7888),ZNF17(281)

+/+

./+

chr19:57371908

chr19:57410880

CDS/splice-site

intergenic

deletion/read-through

314

low

out-of-frame

KRAB_box(98%)|

ENSG00000152433.15

ENST00000282282.4

downstream

upstream

duplicates(1)

GCTCAGAGATTGCTGTACCGTGATGTGATGCTGGAGAATTTGGCCCTTTTGTCCTCACTAG|ACTGCCTTCCGGGAAAATCTGGATGCTTGCCGTTTAAAAGCCAATGAAGCCCCTCCACGTCCTTGGAGCCCCGCAACTGCATTTCTCAAAGCCTCAGGAGGATCCTCCTGGC

AQRLLYRDVMLENLALLSSL|dclpgksgclpfksq*

LH00995:48:23YTGFLT4:1:2335:35836:28324,LH00995:48:23YTGFLT4:2:1218:30310:10935,LH00995:48:23YTGFLT4:5:1262:14179:20715,LH00995:48:23YTGFLT4:1:1374:33603:7053,LH00995:48:23YTGFLT4:4:2125:4681:16652

TUBAP12

TUBAP2

-/-

+/+

chr15:96388333

chr11:90283775

exon

translocation

1251

low

ENSG00000259614.2

ENSG00000214391.3

ENST00000559595.2

ENST00000530835.1

upstream

duplicates(7),mismappers(1),mismatches(1)

GTGGAGACCTGGCCAAGGTACAGAGAGCTGTG|CATGCTGAGCAACACCACAGCCATTGCTGAGGCCTGGGCTCGCCTGGACCACAAGTTTGACCTGATGTATGCCAAGCGTGCCTTTGTTCACTGGTACGTGGGTGAGGGGATGGAGGAAGcC

LH00995:48:23YTGFLT4:2:1440:40042:23728,LH00995:48:23YTGFLT4:2:1440:40050:23714,LH00995:48:23YTGFLT4:2:2130:26516:24625,LH00995:48:23YTGFLT4:3:1290:39403:24078,LH00995:48:23YTGFLT4:3:2213:5085:24527,LH00995:48:23YTGFLT4:3:2389:13669:5176,LH00995:48:23YTGFLT4:3:2389:13677:5162,LH00995:48:23YTGFLT4:3:2406:3136:17338,LH00995:48:23YTGFLT4:4:2104:14421:27862,LH00995:48:23YTGFLT4:5:1178:40908:28282,LH00995:48:23YTGFLT4:5:2173:5927:22425,LH00995:48:23YTGFLT4:6:2490:22228:8511

LINC00623

NOTCH2NLR

+/+

chr1:120913450

chr1:120763628

exon/splice-site

CDS/splice-site

duplication

1292

3187

low

|Calcium-binding_EGF_domain(100%),EGF-like_domain(100%),Human_growth_factor-like_EGF(100%)

ENSG00000226067.7

ENSG00000286106.1

ENST00000614062.1

ENST00000624419.2

downstream

upstream

duplicates(3)

GCTGCTTCTTTTCCAAGGATTTATTTAATGGGGATGTGTTCAAGGCAAGACCGAATTCAGAAGGATATCGACGTCGTGATCCAGAAGTCCAGAGCTGAGGACTGCCTGTTTGCAG|CATTGCAGTGTCGAGATGGCTATGAACCCTGTGTAAATAAAGGAATGTGTGTTACCTACCACAGTGGCACAGGATACTGCAA___ATGTCCAGAAGGCTTCTTGGGGGAATATTGTCAACATCGAGACCCCTGTGAGAAGAACCG

LH00995:48:23YTGFLT4:1:2467:12609:13177,LH00995:48:23YTGFLT4:3:1259:10004:11916,LH00995:48:23YTGFLT4:3:1259:9980:11902,LH00995:48:23YTGFLT4:3:1259:9988:11916,LH00995:48:23YTGFLT4:7:2128:6663:10781,LH00995:48:23YTGFLT4:1:2290:43464:7740,LH00995:48:23YTGFLT4:6:1106:4786:18039

TRIM59

IFT80

-/-

chr3:160438232

chr3:160384646

CDS/splice-site

5'UTR/splice-site

deletion/read-through

238

220

low

out-of-frame

B-box_zinc_finger(100%),RING-type_zinc-finger(100%)|WD_domain__G-beta_repeat(100%)

ENSG00000213186.8

ENSG00000068885.15

ENST00000543469.1

ENST00000326448.12

upstream

downstream

duplicates(1)

GCAAAATATTGAAAGAAGAATGGAGCAGAACAGAAATTGGACAAATTAAGAACGTTCTCATTCCCAAAATGAAAATTTCTCCAAAAAGGATGTCATGTTCCTGGCCTG|TAAATACAATCAAGTGGCATCTTAAATTTTTGCTGGAAGTGGAGTCATGAGACTAAAGATATCTCTTTTAAAAGAACC

KILKEEWSRTEIGQIKNVLIPKMKISPKRMSCSWP|vntikwhlkflleves*

LH00995:48:23YTGFLT4:6:2370:25707:9912,LH00995:48:23YTGFLT4:5:1245:12350:3816,LH00995:48:23YTGFLT4:5:1245:12358:3830,LH00995:48:23YTGFLT4:6:1450:10004:28338

TRIM59

IFT80

-/-

chr3:160438232

chr3:160377540

CDS/splice-site

deletion/read-through

238

498

low

in-frame

B-box_zinc_finger(100%),RING-type_zinc-finger(100%)|WD_domain__G-beta_repeat(100%)

ENSG00000213186.8

ENSG00000068885.15

ENST00000543469.1

ENST00000326448.12

upstream

downstream

duplicates(3)

GCAGAACAGAAATTGGACAAATTAAGAACGTTCTCATTCCCAAAATGAAAATTTCTCCAAAAAGGATGTCATGTTCCTGGCCTG|GTAAATTTCATCTGATTTCCAAGTTAGGAAGAGTGGAA

RTEIGQIKNVLIPKMKISPKRMSCSWP|gKFHLISKLGRV

LH00995:48:23YTGFLT4:1:1298:17940:22635,LH00995:48:23YTGFLT4:1:2298:21112:27091,LH00995:48:23YTGFLT4:2:2257:35164:28310,LH00995:48:23YTGFLT4:3:1135:17722:14522

AC016769.1(6803),AC016769.2(5493)

MAST2

./-

+/-

chr7:64577240

chr1:45804072

intergenic

CDS

translocation

454

low

ENSG00000086015.22

upstream

downstream

mismappers(2),mismatches(3)

GCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCcAAGGCAGGCGG|CTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGT

LH00995:48:23YTGFLT4:1:1376:28231:18291,LH00995:48:23YTGFLT4:1:2465:43278:8903,LH00995:48:23YTGFLT4:2:2259:30949:12938,LH00995:48:23YTGFLT4:4:2233:44193:11747,LH00995:48:23YTGFLT4:5:2277:49200:6773,LH00995:48:23YTGFLT4:6:2378:15085:8216,LH00995:48:23YTGFLT4:7:1442:9583:16736

SDHA

AC091849.2

+/+

-/-

chr5:254506

chr5:1548476

CDS/splice-site

exon/splice-site

inversion

3612

low

out-of-frame

FAD_binding_domain(100%),Fumarate_reductase_flavoprotein_C-term(81%)|

ENSG00000073578.17

ENSG00000251532.1

ENST00000264932.11

ENST00000503113.1

downstream

duplicates(1)

GATTACTCCAAGCCCATCCAGGGGCAACAGAAGAAGCCCTTTGAGGAGCACTGGAGGAAGCACACCCTGTCCTATGTGGACGTTGGCACTGGGAAG|CTACCAAAGAAGAGACAACATCCAGCAGCAGCCACTCCCGCAGGACTCCAGaGAACAAGG

DYSKPIQGQQKKPFEEHWRKHTLSYVDVGTGK|lpkkrqhpaaatpaglqrt

LH00995:48:23YTGFLT4:2:1175:30723:25578,LH00995:48:23YTGFLT4:2:2470:30795:4181,LH00995:48:23YTGFLT4:7:1225:41442:19762

LINC00869

SEC22B4P

+/+

-/-

chr1:149607554

chr1:146328211

exon/splice-site

inversion

2282

low

ENSG00000277147.6

ENSG00000277406.2

ENST00000610578.4

ENST00000643391.1

downstream

GGGATGTGTTCAAGGCAAGACCGAATTCAGAAGGATATCGACGTCGTGATCCAGAAGTCCAGAGCTGAGGACTGCCTGTTTGCAG|CTACATTATTGAGCAGGGGGTGTGTGATTTGGTTTTATGTGAAGCTGC

LH00995:48:23YTGFLT4:2:2182:39161:2135,LH00995:48:23YTGFLT4:7:1491:16881:12140

RSU1

KCNMA1

-/-

chr10:16752539

chr10:77404023

CDS/splice-site

duplication

1884

283

low

Leucine_rich_repeat(100%)|Calcium-activated_BK_potassium_channel_alpha_subunit(100%),Ion_transport_protein(100%),TrkA-N_domain(100%)

ENSG00000148484.18

ENSG00000156113.24

ENST00000602389.1

ENST00000638991.1

upstream

downstream

duplicates(4)

CGTGCACTCTATCTAAGTGACAACGATTTTGAAATCCTGCCGCCAGATATTGGGAAGCTCACAAAGTTGCAGATA___CTCAGCCTTAGGGATAACGACCTGATCTCaCTGCCTAAGGAAATCGGGGAGCTTACCCAGCTTAAAGAGCTCCACATTCAGGGGAACCGCCTCACCGTTCTGCCCCCAGAACT?G|GAGGCCCAGAAGATTAACAATGGCTCAAGCCAGGCG

LH00995:48:23YTGFLT4:4:1243:24137:3130,LH00995:48:23YTGFLT4:4:1243:24154:3130,LH00995:48:23YTGFLT4:4:1243:24170:3130,LH00995:48:23YTGFLT4:4:2134:50996:27960,LH00995:48:23YTGFLT4:5:2397:47760:28408,LH00995:48:23YTGFLT4:7:2129:37276:28296

RSU1

KCNMA1

-/-

chr10:16752539

chr10:77184916

CDS/splice-site

duplication

1884

378

low

Leucine_rich_repeat(100%)|Calcium-activated_BK_potassium_channel_alpha_subunit(100%),Ion_transport_protein(91%),TrkA-N_domain(100%)

ENSG00000148484.18

ENSG00000156113.24

ENST00000602389.1

ENST00000638991.1

upstream

downstream

CCTTAGGGATAACGACCTGATCTCaCTGCCTAAGGAAATCGGGGAGCTTACCCAGCTTAAAGAGCTCCACATTCAGGGGAACCGCCTCACCGTTCTGCCCCCAGAACTAG|CCCAATAGAATCCTGC

LH00995:48:23YTGFLT4:4:1224:8200:23672

FRMD4A

ZNF365

-/-

+/+

chr10:13693482

chr10:62398740

CDS/splice-site

inversion

296

105

low

out-of-frame

Cytohesin_Ubiquitin_Protein_Inducing_Domain(12%),FERM_C-terminal_PH-like_domain(100%),FERM_N-terminal_domain_(100%),FERM_central_domain(100%)|

ENSG00000151474.23

ENSG00000138311.18

ENST00000632570.1

ENST00000395254.8

upstream

duplicates(2)

TTCAGGATCTGGTGCCAGGAGACACTGCATTCTACTCCCAG|CTTACAGACATCTCCTCAAATAGGAAGCCCAAATGCCT___AAGCCGAGGGCACCCGCATTCGGTATGTAACCACCCTGATCTCAAGGCCCATTTCCAtCCAAAGGGAAGGAACC

sGSGARRHCILLP|ayrhllk*

LH00995:48:23YTGFLT4:3:2471:3969:10206,LH00995:48:23YTGFLT4:4:2430:34209:17549,LH00995:48:23YTGFLT4:4:2472:25739:15601,LH00995:48:23YTGFLT4:5:2414:12981:24106

LPP

SEPTIN9

+/+

chr3:188524787

chr17:77482144

CDS/splice-site

translocation

11641

5165

low

out-of-frame

|Septin(100%)

ENSG00000145012.13

ENSG00000184640.20

ENST00000618621.4

ENST00000427177.6

downstream

upstream

duplicates(6)

ACTCCTTGACCAGCATCTTGGCTGACCTTGAGTGCAGCTCCCCCTATAAGCCTCGGCCTCCACAG|CCACTGAGGCGGCTCCCAGCTGCGTTGGCGACATGGCCGACACCCCCAGAGATGCCGGGCTCAAGCAGGCGCCTGCATCACGGAACGAGAAGGCCCCGGTGGACTTCGG

SLTSILADLECSSPYKPRPPQ|plrrlpaalatwptppempgssrrlhhgtrrprwts

LH00995:48:23YTGFLT4:3:1483:45188:23756,LH00995:48:23YTGFLT4:3:1483:45196:23770,LH00995:48:23YTGFLT4:3:2184:34897:21486,LH00995:48:23YTGFLT4:4:1226:41855:7698,LH00995:48:23YTGFLT4:6:1177:17884:1687,LH00995:48:23YTGFLT4:6:1429:14389:3228,LH00995:48:23YTGFLT4:7:1439:23692:14298,LH00995:48:23YTGFLT4:7:1439:23709:14298

AC242842.2

SEC22B4P

+/+

-/-

chr1:149607554

chr1:146328211

exon/splice-site

inversion

2282

low

ENSG00000284964.1

ENSG00000277406.2

ENST00000643225.1

ENST00000643391.1

downstream

GGGATGTGTTCAAGGCAAGACCGAATTCAGAAGGATATCGACGTCGTGATCCAGAAGTCCAGAGCTGAGGACTGCCTGTTTGCAG|CTACATTATTGAGCAGGGGGTGTGTGATTTGGTTTTATGTGAAGCTGC

LH00995:48:23YTGFLT4:2:2182:39161:2135,LH00995:48:23YTGFLT4:7:1491:16881:12140

AC004951.2

RASA4

-/-

chr7:43986601

chr7:102609454

exon/splice-site

CDS/splice-site

duplication

530

2590

low

|BTK_motif(100%),C2_domain(81%),GTPase-activator_protein_for_Ras-like_GTPase(100%),PH_domain(100%)

ENSG00000239556.4

ENSG00000105808.18

ENST00000420754.4

ENST00000262940.12

upstream

downstream

duplicates(2)

CGGGTGCTGTACCAGGCCAGAGGCCAGCTCCATGTCCTCCGTGTTGGCAATGATACCCACTGCCAACCAACAAAAATTGGCTGCAACCATCCCCTACCAGGACCGAGCCCCTACAG___GGTGAAGTTCCTGGTGATGAATGACAAAGGACCCG...ACAAAGTGGTCCAGCAACACTCGCCTGCAGCAAG|GACAGCCACAGTGTGGAAGACCCTGTGCCCCTTCTGGGGTGAGGAGTACCAAGTGCACCTGCCGCCCACCTTCCAtGCTGTGGCTTTCTAcGTCATGGATGAGGATGCCCTCAG___CCGGGAC

LH00995:48:23YTGFLT4:7:1394:26726:5680,LH00995:48:23YTGFLT4:7:1394:26734:5694,LH00995:48:23YTGFLT4:1:2140:14656:4391,LH00995:48:23YTGFLT4:2:2219:39872:3424

FBXW11

DENND4A

-/-

chr5:172006458

chr15:65761438

CDS/splice-site

5'UTR/splice-site

translocation

2018

104

low

out-of-frame

|DENN_(AEX-3)_domain(100%),dDENN_domain(100%),uDENN_domain(100%)

ENSG00000072803.18

ENSG00000174485.16

ENST00000296933.10

ENST00000443035.8

upstream

downstream

duplicates(1)

ATTGAGGACAAGACCATCGAGCTCATG|TTATTTCTCAAACTCTGAGGCTGCGGAGTTCACACATTGAAATCTGTCATCTTTTTCAGAGAGAAACTTTCGGTAATGT___ATGTAACCTTCTGTAATGGAAGATGATTGAAGACAAGGGGCCTCGTGTTGCTGACTACTTTGTTGTAGCAGGATTAACTGATGTTTCAAAGCCTCTAGAAGAAGAAATTCACTTCAATGATGCTTGTCATAAAGTAGCTAAACCAAAAGAACCTATTACAGATGTTTCAGTTATTATCAAATCTC

IEDKTIELM|lflkl*

LH00995:48:23YTGFLT4:2:1240:5433:2709,LH00995:48:23YTGFLT4:4:1167:39112:19931,LH00995:48:23YTGFLT4:4:1284:31920:26306

209 rows