aih-tih-sc-64cd51-R1_A23YTGFLT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-64cd51-R1_A23YTGFLT4_1)

File Info

Filename: aih-tih-sc-64cd51-R1_A23YTGFLT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/b7/032e906564842f7b75e2c8dd327082/aih-tih-sc-64cd51-R1_A23YTGFLT4_1.arriba.fusions.tsv
Size: 577.6 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-64cd51-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

ARID1A

+/+

chr1:26761096

chr1:26729651

CDS/splice-site

duplication/non-canonical_splicing

137

193

2303

3017

high

out-of-frame

|ARID/BRIGHT_DNA_binding_domain(100%),SWI/SNF-like_complex_subunit_BAF250/Osa_(100%)

ENSG00000117713.20

ENST00000430799.7

ENST00000324856.13

downstream

upstream

duplicates(226),mismatches(1)

CAGCTCAGTCTCCTTTCTCTCCTCATACCTCCCCTCACCTGCCTGGCATCCGAGGCCCTTCCCCGTCCCCTGTTGGCTCTCCCGCCAGTGTTGCTCAGTCTCGCTCAGGACCACTCTCGCCTGCTGCAGTGCCAG|CCATCCAGTCCAATGGATCAGATGGGCAAGATGAGACCTCAGCCATATGGCGGGACTAACCCATACTCGCAGCAACAGGGACCTCCGTCAGGACCGCAGCAAGGACATGGGTACCCAGGGCAGCCATA

AQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVP|aiqsngsdgqdetsaiwrd*

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FLT4:3:1218:5692:18796,LH00995:48:23YTGFLT4:3:1223:23021:9351,LH00995:48:23YTGFLT4:3:1266:14729:17689,LH00995:48:23YTGFLT4:3:1290:34493:24625,LH00995:48:23YTGFLT4:3:1306:21573:15363,LH00995:48:23YTGFLT4:3:1356:25610:2766,LH00995:48:23YTGFLT4:3:1356:25618:2752,LH00995:48:23YTGFLT4:3:1376:21015:11649,LH00995:48:23YTGFLT4:3:1422:7286:5974,LH00995:48:23YTGFLT4:3:1422:7302:5974,LH00995:48:23YTGFLT4:3:1440:38869:18277,LH00995:48:23YTGFLT4:3:1452:19809:15251,LH00995:48:23YTGFLT4:3:1459:35884:6549,LH00995:48:23YTGFLT4:3:1488:16662:17506,LH00995:48:23YTGFLT4:3:1488:16678:17506,LH00995:48:23YTGFLT4:3:1488:16687:17492,LH00995:48:23YTGFLT4:3:2113:44589:2709,LH00995:48:23YTGFLT4:3:2119:48715:20925,LH00995:48:23YTGFLT4:3:2138:32689:2555,LH00995:48:23YTGFLT4:3:2143:17220:24863,LH00995:48:23YTGFLT4:3:2158:3629:1210,LH00995:48:23YTGFLT4:3:2167:35908:13961,LH00995:48:23YTGFLT4:3:2167:35925:13961,LH00995:48:23YTGFLT4:3:2196:3710:21724,LH00995:48:23YTGFLT4:3:2197:46498:4671,LH00995:48:23YTGFLT4:3:2205:36912:25451,LH00995:48:23YTGFLT4:3:2214:20012:8959,LH00995:48:23YTGFLT4:3:2243:11080:15965,LH00995:48:23YTGFLT4:3:2252:15141:24933,LH00995:48:23YTGFLT4:3:2369:33870:28310,LH00995:48:23YTGFLT4:3:2373:43893:6241,LH00995:48:23YTGFLT4:3:2397:28797:15012,LH00995:48:23YTGFLT4:3:2442:25545:29053,LH00995:48:23YTGFLT4:3:2450:43489:27567,LH00995:48:23YTGFLT4:3:2454:24954:26180,LH00995:48:23YTGFLT4:3:2476:51514:8118,LH00995:48:23YTGFLT4:3:2482:39047:26516,LH00995:48:23YTGFLT4:3:2487:24154:25185,LH00995:48:23YTGFLT4:4:1160:20691:1504,LH00995:48:23YTGFLT4:4:1223:1299:3648,LH00995:48:23YTGFLT4:4:1253:15586:4377,LH00995:48:23YTGFLT4:4:1281:9737:12406,LH00995:48:23YTGFLT4:4:1302:23434:8328,LH00995:48:23YTGFLT4:4:1318:48189:26292,LH00995:48:23YTGFLT4:4:1322:45770:22187,LH00995:48:23YTGFLT4:4:1365:26160:6717,LH00995:48:23YTGFLT4:4:1369:28441:15236,LH00995:48:23YTGFLT4:4:1392:25092:17787,LH00995:48:23YTGFLT4:4:1432:14583:18810,LH00995:48:23YTGFLT4:4:2190:26257:22495,LH00995:48:23YTGFLT4:4:2246:1121:27189,LH00995:48:23YTGFLT4:4:2285:46175:16638,LH00995:48:23YTGFLT4:4:2309:7059:22817,LH00995:48:23YTGFLT4:4:2312:5676:26278,LH00995:48:23YTGFLT4:4:2393:23401:1911,LH00995:48:23YTGFLT4:4:2423:14721:2093,LH00995:48:23YTGFLT4:4:2427:17560:22817,LH00995:48:23YTGFLT4:4:2427:17568:22803,LH00995:48:23YTGFLT4:4:2432:19866:7193,LH00995:48:23YTGFLT4:4:2432:29331:11257,LH00995:48:23YTGFLT4:5:1109:2893:22299,LH00995:48:23YTGFLT4:5:1124:14947:8791,LH00995:48:23YTGFLT4:5:1125:50778:4685,LH00995:48:23YTGFLT4:5:1139:49338:26292,LH00995:48:23YTGFLT4:5:1234:13321:14858,LH00995:48:23YTGFLT4:5:1240:46919:15096,LH00995:48:23YTGFLT4:5:1267:3969:15391,LH00995:48:23YTGFLT4:5:1298:38910:3774,LH00995:48:23YTGFLT4:5:1298:38918:3788,LH00995:48:23YTGFLT4:5:1307:10991:6311,LH00995:48:23YTGFLT4:5:1383:3128:12280,LH00995:48:23YTGFLT4:5:1434:22463:15979,LH00995:48:23YTGFLT4:5:1452:31022:3732,LH00995:48:23YTGFLT4:5:1468:12601:11425,LH00995:48:23YTGFLT4:5:1498:25553:14410,LH00995:48:23YTGFLT4:5:2125:19874:21584,LH00995:48:23YTGFLT4:5:2138:43982:5442,LH00995:48:23YTGFLT4:5:2145:44945:15797,LH00995:48:23YTGFLT4:5:2234:10668:5218,LH00995:48:23YTGFLT4:5:2266:46158:28240,LH00995:48:23YTGFLT4:5:2272:24291:4097,LH00995:48:23YTGFLT4:5:2272:24299:4083,LH00995:48:23YTGFLT4:5:2274:14162:18698,LH00995:48:23YTGFLT4:5:2289:11946:29431,LH00995:48:23YTGFLT4:5:2302:38489:7362,LH00995:48:23YTGFLT4:5:2313:40164:13709,LH00995:48:23YTGFLT4:5:2320:11234:28366,LH00995:48:23YTGFLT4:5:2345:27721:19454,LH00995:48:23YTGFLT4:5:2440:30795:16343,LH00995:48:23YTGFLT4:5:2460:22333:8917,LH00995:48:23YTGFLT4:5:2463:14858:15587,LH00995:48:23YTGFLT4:5:2489:1720:24527,LH00995:48:23YTGFLT4:6:1114:20432:4279,LH00995:48:23YTGFLT4:6:1114:20440:4265,LH00995:48:23YTGFLT4:6:1114:30189:24457,LH00995:48:23YTGFLT4:6:1148:28611:6675,LH00995:48:23YTGFLT4:6:1162:26961:9562,LH00995:48:23YTGFLT4:6:1186:7723:18754,LH00995:48:23YTGFLT4:6:1253:39063:15727,LH00995:48:23YTGFLT4:6:1255:2092:28198,LH00995:48:23YTGFLT4:6:1257:41571:4013,LH00995:48:23YTGFLT4:6:1266:19251:14844,LH00995:48:23YTGFLT4:6:1290:28660:24106,LH00995:48:23YTGFLT4:6:1302:33611:9674,LH00995:48:23YTGFLT4:6:1312:35447:2541,LH00995:48:23YTGFLT4:6:1319:47518:13303,LH00995:48:23YTGFLT4:6:1358:32179:1869,LH00995:48:23YTGFLT4:6:1390:14607:14536,LH00995:48:23YTGFLT4:6:1420:14988:9702,LH00995:48:23YTGFLT4:6:1425:30949:19945,LH00995:48:23YTGFLT4:6:1445:33028:6086,LH00995:48:23YTGFLT4:6:1446:50470:20547,LH00995:48:23YTGFLT4:6:1476:41677:14760,LH00995:48:23YTGFLT4:6:1484:22495:19875,LH00995:48:23YTGFLT4:6:2101:6267:11439,LH00995:48:23YTGFLT4:6:2171:23773:5778,LH00995:48:23YTGFLT4:6:2262:49815:8735,LH00995:48:23YTGFLT4:6:2292:39832:29081,LH00995:48:23YTGFLT4:6:2342:32939:27175,LH00995:48:23YTGFLT4:6:2342:32947:27161,LH00995:48:23YTGFLT4:6:2360:24218:1757,LH00995:48:23YTGFLT4:6:2370:28142:12952,LH00995:48:23YTGFLT4:6:2397:15562:12154,LH00995:48:23YTGFLT4:6:2457:48561:27497,LH00995:48:23YTGFLT4:6:2471:37947:11383,LH00995:48:23YTGFLT4:7:1104:50624:8539,LH00995:48:23YTGFLT4:7:1142:16395:21332,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NUP214

LAMC3

+/+

chr9:131164144

chr9:131087476

CDS/splice-site

duplication

2809

1455

high

out-of-frame

ENSG00000126883.17

ENSG00000050555.19

ENST00000359428.10

ENST00000361069.9

downstream

upstream

duplicates(66),mismatches(1)

CCTGGAAAGCCTGTGCAATGCTTTGTTGAAAACCACCATAGAATCTCACACCAAATCCTTGCCCAAAGTACCAG___CCAAACTGTCCCCCATGAAACAGGCACAACTGAGAAACTTCTTGGCCAAGAGGAAGACCCCACCAGTGAGATCCACTGCTCCAG|CTTGCCAAGGCCTTGCTGAGGGAGCGGAAACAGGCGCACCGCCGTGCCAGCAGGCTCACCAGCCAGACGCAAGCCACGCTCCAACAGGCGTCCCAGCAGGTGCTGGCGTCTGAAGCACGCAGACAGGAGCTGGAGGAAGCTGAGCGG___GTGGGTGCTGGGC

LESLCNALLKTTIESHTKSLPKVPAKLSPMKQAQLRNFLAKRKTPPVRSTAP|acqglaegaetgappcqqahqpdashaptgvpagagv*

LH00995:48:23YTGFLT4:1:1150:2351:10346,LH00995:48:23YTGFLT4:1:1198:1858:9211,LH00995:48:23YTGFLT4:1:1198:8944:26054,LH00995:48:23YTGFLT4:1:1219:7788:7376,LH00995:48:23YTGFLT4:1:1257:28466:23826,LH00995:48:23YTGFLT4:1:1308:13523:7642,LH00995:48:23YTGFLT4:1:1373:20359:28058,LH00995:48:23YTGFLT4:1:1457:45163:12840,LH00995:48:23YTGFLT4:1:1457:45171:12854,LH00995:48:23YTGFLT4:1:2121:10287:7894,LH00995:48:23YTGFLT4:1:2125:40633:12644,LH00995:48:23YTGFLT4:1:2140:24679:28254,LH00995:48:23YTGFLT4:1:2140:24696:28254,LH00995:48:23YTGFLT4:1:2213:50398:7165,LH00995:48:23YTGFLT4:1:2348:5838:1869,LH00995:48:23YTGFLT4:1:2362:39994:9099,LH00995:48:23YTGFLT4:1:2407:2335:24274,LH00995:48:23YTGFLT4:1:2407:2343:24260,LH00995:48:23YTGFLT4:1:2408:16492:17352,LH00995:48:23YTGFLT4:1:2475:30973:23602,LH00995:48:23YTGFLT4:1:2475:31702:14998,LH00995:48:23YTGFLT4:1:2475:32341:12350,LH00995:48:23YTGFLT4:2:1121:38740:13457,LH00995:48:23YTGFLT4:2:1121:38748:13443,LH00995:48:23YTGFLT4:2:1152:20149:14914,LH00995:48:23YTGFLT4:2:1253:6315:12140,LH00995:48:23YTGFLT4:2:1272:22681:20757,LH00995:48:23YTGFLT4:2:1313:35997:17927,LH00995:48:23YTGFLT4:2:1321:3993:20365,LH00995:48:23YTGFLT4:2:1375:11841:10949,LH00995:48:23YTGFLT4:2:1440:5312:12616,LH00995:48:23YTGFLT4:2:2127:10959:10795,LH00995:48:23YTGFLT4:2:2284:13491:8651,LH00995:48:23YTGFLT4:2:2348:37923:4223,LH00995:48:23YTGFLT4:3:1323:27503:23728,LH00995:48:23YTGFLT4:3:1391:39767:1953,LH00995:48:23YTGFLT4:3:2115:4414:24288,LH00995:48:23YTGFLT4:3:2206:40916:5708,LH00995:48:23YTGFLT4:3:2245:3459:25606,LH00995:48:23YTGFLT4:3:2303:27034:8174,LH00995:48:23YTGFLT4:3:2303:27042:8188,LH00995:48:23YTGFLT4:3:2316:44443:12210,LH00995:48:23YTGFLT4:3:2350:46733:13737,LH00995:48:23YTGFLT4:4:1163:24477:15685,LH00995:48:23YTGFLT4:4:1208:15392:18025,LH00995:48:23YTGFLT4:4:1350:39589:9491,LH00995:48:23YTGFLT4:4:1435:38360:17422,LH00995:48:23YTGFLT4:4:1445:2222:1575,LH00995:48:23YTGFLT4:4:2471:4948:29109,LH00995:48:23YTGFLT4:5:1294:39945:11930,LH00995:48:23YTGFLT4:5:1307:8394:4951,LH00995:48:23YTGFLT4:5:1307:8410:4951,LH00995:48:23YTGFLT4:5:1352:24542:27539,LH00995:48:23YTGFLT4:5:1374:46943:16400,LH00995:48:23YTGFLT4:5:1407:34145:6479,LH00995:48:23YTGFLT4:5:2238:26152:6311,LH00995:48:23YTGFLT4:5:2269:11557:21640,LH00995:48:23YTGFLT4:5:2308:9713:23462,LH00995:48:23YTGFLT4:5:2372:12642:1771,LH00995:48:23YTGFLT4:5:2416:33020:20869,LH00995:48:23YTGFLT4:5:2416:33036:20869,LH00995:48:23YTGFLT4:5:2460:41636:13821,LH00995:48:23YTGFLT4:6:1143:42016:11201,LH00995:48:23YTGFLT4:6:1198:51287:13779,LH00995:48:23YTGFLT4:6:1233:9300:10024,LH00995:48:23YTGFLT4:6:1283:49200:5092,LH00995:48:23YTGFLT4:6:1354:51886:11621,LH00995:48:23YTGFLT4:6:1476:37575:14578,LH00995:48:23YTGFLT4:6:2193:36515:9744,LH00995:48:23YTGFLT4:6:2244:34630:27525,LH00995:48:23YTGFLT4:6:2292:50762:16119,LH00995:48:23YTGFLT4:6:2392:48229:16890,LH00995:48:23YTGFLT4:6:2455:20545:28184,LH00995:48:23YTGFLT4:7:1140:10821:4419,LH00995:48:23YTGFLT4:7:1166:38303:11159,LH00995:48:23YTGFLT4:7:1240:49823:17072,LH00995:48:23YTGFLT4:7:1242:49775:27273,LH00995:48:23YTGFLT4:7:1311:29800:12602,LH00995:48:23YTGFLT4:7:1361:47590:25564,LH00995:48:23YTGFLT4:7:2126:10481:8370,LH00995:48:23YTGFLT4:7:2167:33481:25676,LH00995:48:23YTGFLT4:7:2191:11363:17072,LH00995:48:23YTGFLT4:7:2214:12237:17380,LH00995:48:23YTGFLT4:7:2244:33190:23490,LH00995:48:23YTGFLT4:7:2302:40592:14956,LH00995:48:23YTGFLT4:7:2304:19267:8735,LH00995:48:23YTGFLT4:7:2306:3985:23294,LH00995:48:23YTGFLT4:7:2325:48197:8370,LH00995:48:23YTGFLT4:7:2416:12577:24134,LH00995:48:23YTGFLT4:7:2438:32244:24877,LH00995:48:23YTGFLT4:8:1136:43100:9491,LH00995:48:23YTGFLT4:8:1159:22083:15881,LH00995:48:23YTGFLT4:8:1230:21452:4363,LH00995:48:23YTGFLT4:8:1249:6202:17633,LH00995:48:23YTGFLT4:8:1288:1243:19889,LH00995:48:23YTGFLT4:8:1428:20181:12252,LH00995:48:23YTGFLT4:8:1486:3589:13667,LH00995:48:23YTGFLT4:1:1158:37575:22733,LH00995:48:23YTGFLT4:1:1250:5255:12266,LH00995:48:23YTGFLT4:1:1341:13944:6857,LH00995:48:23YTGFLT4:1:1343:37243:28688,LH00995:48:23YTGFLT4:1:1381:46514:14760,LH00995:48:23YTGFLT4:1:1394:6906:9716,LH00995:48:23YTGFLT4:1:1404:41345:7796,LH00995:48:23YTGFLT4:1:2302:33587:28240,LH00995:48:23YTGFLT4:1:2365:45843:6927,LH00995:48:23YTGFLT4:1:2404:23183:10444,LH00995:48:23YTGFLT4:1:2421:36394:23013,LH00995:48:23YTGFLT4:1:2451:43942:13527,LH00995:48:23YTGFLT4:1:2457:49904:3929,LH00995:48:23YTGFLT4:1:2470:52064:4783,LH00995:48:23YTGFLT4:2:1161:47000:11930,LH00995:48:23YTGFLT4:2:1173:29711:13485,LH00995:48:23YTGFLT4:2:1490:49386:16456,LH00995:48:23YTGFLT4:2:2190:43650:25690,LH00995:48:23YTGFLT4:2:2194:20100:8469,LH00995:48:23YTGFLT4:2:2207:43812:12546,LH00995:48:23YTGFLT4:2:2324:24987:26292,LH00995:48:23YTGFLT4:2:2436:34485:3536,LH00995:48:23YTGFLT4:2:2454:16598:29333,LH00995:48:23YTGFLT4:3:1101:11703:16175,LH00995:48:23YTGFLT4:3:1136:36386:28492,LH00995:48:23YTGFLT4:3:1151:48448:25451,LH00995:48:23YTGFLT4:3:1263:21443:28898,LH00995:48:23YTGFLT4:3:2105:40884:18459,LH00995:48:23YTGFLT4:3:2114:24186:24373,LH00995:48:23YTGFLT4:3:2150:16670:29599,LH00995:48:23YTGFLT4:3:2176:30197:13513,LH00995:48:23YTGFLT4:3:2308:43715:15349,LH00995:48:23YTGFLT4:3:2357:42105:28730,LH00995:48:23YTGFLT4:4:1104:9608:7698,LH00995:48:23YTGFLT4:4:1113:9826:22285,LH00995:48:23YTGFLT4:4:1149:50317:5288,LH00995:48:23YTGFLT4:4:1252:33764:21654,LH00995:48:23YTGFLT4:4:1252:33781:21654,LH00995:48:23YTGFLT4:4:1337:33789:2247,LH00995:48:23YTGFLT4:4:1434:29533:24443,LH00995:48:23YTGFLT4:4:1460:47704:5022,LH00995:48:23YTGFLT4:4:2131:46005:8637,LH00995:48:23YTGFLT4:4:2139:5587:14690,LH00995:48:23YTGFLT4:4:2177:9834:16189,LH00995:48:23YTGFLT4:4:2228:8370:17240,LH00995:48:23YTGFLT4:4:2287:42146:17086,LH00995:48:23YTGFLT4:4:2288:43408:9351,LH00995:48:23YTGFLT4:4:2336:18313:19216,LH00995:48:23YTGFLT4:4:2354:48383:17829,LH00995:48:23YTGFLT4:4:2467:24696:5022,LH00995:48:23YTGFLT4:4:2483:19364:3550,LH00995:48:23YTGFLT4:5:1192:44880:22915,LH00995:48:23YTGFLT4:5:1192:44888:22929,LH00995:48:23YTGFLT4:5:1222:47137:2667,LH00995:48:23YTGFLT4:5:1278:43990:11369,LH00995:48:23YTGFLT4:5:1363:9527:17226,LH00995:48:23YTGFLT4:5:1406:47251:28058,LH00995:48:23YTGFLT4:5:1458:20659:12406,LH00995:48:23YTGFLT4:5:1463:19656:22103,LH00995:48:23YTGFLT4:5:2175:48027:27581,LH00995:48:23YTGFLT4:5:2187:48302:17464,LH00995:48:23YTGFLT4:5:2271:33853:19790,LH00995:48:23YTGFLT4:5:2288:25254:15180,LH00995:48:23YTGFLT4:5:2303:9082:24050,LH00995:48:23YTGFLT4:5:2303:9098:24050,LH00995:48:23YTGFLT4:5:2340:50478:3578,LH00995:48:23YTGFLT4:6:1161:2489:24793,LH00995:48:23YTGFLT4:6:1179:39970:13205,LH00995:48:23YTGFLT4:6:1233:32583:5484,LH00995:48:23YTGFLT4:6:1292:44249:12826,LH00995:48:23YTGFLT4:6:1435:4398:8791,LH00995:48:23YTGFLT4:6:1458:30132:14494,LH00995:48:23YTGFLT4:6:2141:25650:22397,LH00995:48:23YTGFLT4:6:2237:45762:7039,LH00995:48:23YTGFLT4:6:2242:18539:7502,LH00995:48:23YTGFLT4:6:2293:33983:15138,LH00995:48:23YTGFLT4:6:2304:11444:14186,LH00995:48:23YTGFLT4:6:2371:18466:1799,LH00995:48:23YTGFLT4:6:2384:49726:3312,LH00995:48:23YTGFLT4:6:2414:42154:28786,LH00995:48:23YTGFLT4:6:2421:40698:15194,LH00995:48:23YTGFLT4:6:2424:24801:16301,LH00995:48:23YTGFLT4:7:1126:20141:27091,LH00995:48:23YTGFLT4:7:1155:31831:21052,LH00995:48:23YTGFLT4:7:1196:3524:21150,LH00995:48:23YTGFLT4:7:1243:13645:6591,LH00995:48:23YTGFLT4:7:1284:25141:21262,LH00995:48:23YTGFLT4:7:1290:12075:24583,LH00995:48:23YTGFLT4:7:1325:9349:3830,LH00995:48:23YTGFLT4:7:1341:15659:14956,LH00995:48:23YTGFLT4:7:1404:1979:22257,LH00995:48:23YTGFLT4:7:1413:37777:3298,LH00995:48:23YTGFLT4:7:2173:15837:10697,LH00995:48:23YTGFLT4:7:2183:41612:15993,LH00995:48:23YTGFLT4:7:2255:6380:5946,LH00995:48:23YTGFLT4:7:2255:6396:5946,LH00995:48:23YTGFLT4:7:2270:25100:2639,LH00995:48:23YTGFLT4:7:2301:6032:1897,LH00995:48:23YTGFLT4:7:2314:18758:28926,LH00995:48:23YTGFLT4:7:2339:40010:10697,LH00995:48:23YTGFLT4:7:2444:4511:29445,LH00995:48:23YTGFLT4:7:2459:33320:28702,LH00995:48:23YTGFLT4:8:1174:29881:27511,LH00995:48:23YTGFLT4:8:1201:28700:4139,LH00995:48:23YTGFLT4:8:1259:33166:11425,LH00995:48:23YTGFLT4:8:1304:23644:27273,LH00995:48:23YTGFLT4:8:2136:8046:27862,LH00995:48:23YTGFLT4:1:1382:29849:8735,LH00995:48:23YTGFLT4:2:1171:13758:27890,LH00995:48:23YTGFLT4:8:1175:10004:18333,LH00995:48:23YTGFLT4:8:1175:10012:18319,LH00995:48:23YTGFLT4:8:1175:10020:18305

NUP214

LAMC3

+/+

chr9:131164144

chr9:131091537

CDS/splice-site

duplication

2809

1723

low

in-frame

ENSG00000126883.17

ENSG00000050555.19

ENST00000359428.10

ENST00000361069.9

downstream

upstream

GGAAGACCCCACCAGTGAGATCCACTGCTCCAG|GGTCGCTGGACACCCATCAAGCCtCAGCCCAGGCCCTGAACGAGACTCAGTGGGCACTAGAACGCCTGAGGCTGCAGCTGGGCTCCCCGGGGTCCTTGCAGAGGAAACTCAGTCTGCTGGAGCAGGAATCCCAGCAGCAGGAGCTGCAGATCCAGGGCTTCGAGAGTGACCTCGCCGAGATCCG

KTPPVRSTAP|gSLDTHQAsAQALNETQWALERLRLQLGSPGSLQRKLSLLEQESQQQELQIQGFESDLAEI

LH00995:48:23YTGFLT4:2:2345:10926:19594

PTPN12

GNAI1

+/+

chr7:77537645

chr7:79915067

CDS/splice-site

exon/splice-site

deletion

4752

high

out-of-frame

|G-protein_alpha_subunit(100%)

ENSG00000127947.16

ENSG00000127955.17

ENST00000248594.11

ENST00000650351.1

downstream

upstream

duplicates(37),mismatches(1)

AGCGACCGCAGCCGGGGGGACGCGGGAGGATGGAGCAAGTGGAGATCCTGAGGAAATTCATCCAGAGGGTCCAGGCCATGAAGAGTCCTGACCACAATGGGGAGGACAACTTCGCCCGGGACTTCATG|GCTCAATTCCCTTCCAAGATGGCCGAATAGGAAGAGCTCCGGTCTGAAACTCCCAGCGTGATCGACACAGAAGATGGAGGATTTCTGCATTTCCAACTGAG

MEQVEILRKFIQRVQAMKSPDHNGEDNFARDFM|aqfpskmae*

LH00995:48:23YTGFLT4:1:1248:30601:15419,LH00995:48:23YTGFLT4:1:1305:38764:22467,LH00995:48:23YTGFLT4:1:1365:33182:2794,LH00995:48:23YTGFLT4:1:1388:3985:25732,LH00995:48:23YTGFLT4:1:1434:34873:14662,LH00995:48:23YTGFLT4:1:1446:16670:20155,LH00995:48:23YTGFLT4:1:2120:32138:13205,LH00995:48:23YTGFLT4:1:2151:19971:1294,LH00995:48:23YTGFLT4:1:2177:13337:27217,LH00995:48:23YTGFLT4:1:2314:10967:9323,LH00995:48:23YTGFLT4:1:2337:50042:16245,LH00995:48:23YTGFLT4:1:2359:15060:13527,LH00995:48:23YTGFLT4:2:1176:4042:8146,LH00995:48:23YTGFLT4:2:1212:14373:19538,LH00995:48:23YTGFLT4:2:1320:43537:16890,LH00995:48:23YTGFLT4:2:1379:42202:12084,LH00995:48:23YTGFLT4:2:1413:48132:20141,LH00995:48:23YTGFLT4:2:1496:8588:12686,LH00995:48:23YTGFLT4:2:2160:3678:14774,LH00995:48:23YTGFLT4:2:2172:41515:25718,LH00995:48:23YTGFLT4:2:2208:16403:9604,LH00995:48:23YTGFLT4:2:2210:14882:5232,LH00995:48:23YTGFLT4:2:2223:12277:4727,LH00995:48:23YTGFLT4:2:2236:10166:9225,LH00995:48:23YTGFLT4:2:2337:17973:21458,LH00995:48:23YTGFLT4:3:1140:8694:20407,LH00995:48:23YTGFLT4:3:1194:1906:24737,LH00995:48:23YTGFLT4:3:1243:7059:21052,LH00995:48:23YTGFLT4:3:1325:18199:10725,LH00995:48:23YTGFLT4:3:2107:48310:7670,LH00995:48:23YTGFLT4:3:2305:2084:17198,LH00995:48:23YTGFLT4:3:2375:22835:11271,LH00995:48:23YTGFLT4:3:2449:30027:13667,LH00995:48:23YTGFLT4:3:2450:41539:10570,LH00995:48:23YTGFLT4:4:1139:24679:16792,LH00995:48:23YTGFLT4:4:1418:7974:21486,LH00995:48:23YTGFLT4:4:1418:7982:21500,LH00995:48:23YTGFLT4:4:1432:5903:14760,LH00995:48:23YTGFLT4:4:1435:13151:17310,LH00995:48:23YTGFLT4:4:1453:42720:12224,LH00995:48:23YTGFLT4:4:1482:44864:12995,LH00995:48:23YTGFLT4:4:1482:49872:17380,LH00995:48:23YTGFLT4:4:2179:20699:24078,LH00995:48:23YTGFLT4:4:2179:47615:18936,LH00995:48:23YTGFLT4:4:2223:19073:22719,LH00995:48:23YTGFLT4:4:2339:15513:11117,LH00995:48:23YTGFLT4:4:2339:15530:11117,LH00995:48:23YTGFLT4:4:2420:12447:13289,LH00995:48:23YTGFLT4:4:2420:19696:19006,LH00995:48:23YTGFLT4:4:2441:47315:6731,LH00995:48:23YTGFLT4:5:1172:13580:5470,LH00995:48:23YTGFLT4:5:1289:28571:15769,LH00995:48:23YTGFLT4:5:1360:34355:15895,LH00995:48:23YTGFLT4:5:2134:18458:7249,LH00995:48:23YTGFLT4:5:2143:27001:9576,LH00995:48:23YTGFLT4:5:2143:27017:9576,LH00995:48:23YTGFLT4:5:2155:43731:6297,LH00995:48:23YTGFLT4:5:2243:23328:22859,LH00995:48:23YTGFLT4:5:2359:39120:9239,LH00995:48:23YTGFLT4:5:2418:37292:2681,LH00995:48:23YTGFLT4:5:2460:32033:10416,LH00995:48:23YTGFLT4:5:2490:4924:17829,LH00995:48:23YTGFLT4:6:1134:23142:4573,LH00995:48:23YTGFLT4:6:1136:36094:9407,LH00995:48:23YTGFLT4:6:1136:36103:9421,LH00995:48:23YTGFLT4:6:1189:9422:13625,LH00995:48:23YTGFLT4:6:1308:41086:10038,LH00995:48:23YTGFLT4:6:1398:18547:18417,LH00995:48:23YTGFLT4:6:1480:1558:29543,LH00995:48:23YTGFLT4:6:2131:43634:1112,LH00995:48:23YTGFLT4:6:2154:20100:16652,LH00995:48:23YTGFLT4:6:2182:51312:21248,LH00995:48:23YTGFLT4:6:2202:15708:8370,LH00995:48:23YTGFLT4:6:2223:22131:16470,LH00995:48:23YTGFLT4:6:2318:29323:15419,LH00995:48:23YTGFLT4:6:2426:33603:21346,LH00995:48:23YTGFLT4:7:1142:9276:11215,LH00995:48:23YTGFLT4:7:1152:14308:15559,LH00995:48:23YTGFLT4:7:1175:3281:4447,LH00995:48:23YTGFLT4:7:1213:13491:8370,LH00995:48:23YTGFLT4:7:1290:23822:23686,LH00995:48:23YTGFLT4:7:1311:19825:4601,LH00995:48:23YTGFLT4:7:1341:40309:5022,LH00995:48:23YTGFLT4:7:1387:43820:18557,LH00995:48:23YTGFLT4:7:1387:43837:18557,LH00995:48:23YTGFLT4:7:1417:40455:6815,LH00995:48:23YTGFLT4:7:1433:13370:5442,LH00995:48:23YTGFLT4:7:1474:42308:13835,LH00995:48:23YTGFLT4:7:2166:15950:13191,LH00995:48:23YTGFLT4:7:2170:30415:10360,LH00995:48:23YTGFLT4:7:2172:37235:22060,LH00995:48:23YTGFLT4:7:2302:39063:21864,LH00995:48:23YTGFLT4:7:2390:21096:19384,LH00995:48:23YTGFLT4:7:2436:39508:15517,LH00995:48:23YTGFLT4:7:2460:20667:11019,LH00995:48:23YTGFLT4:8:1148:31702:27834,LH00995:48:23YTGFLT4:8:1175:42963:3564,LH00995:48:23YTGFLT4:8:1184:37356:19356,LH00995:48:23YTGFLT4:8:1268:6962:3228,LH00995:48:23YTGFLT4:8:1289:6979:17380,LH00995:48:23YTGFLT4:8:1367:21654:24022,LH00995:48:23YTGFLT4:8:1402:33384:28366,LH00995:48:23YTGFLT4:8:2109:51943:12812,LH00995:48:23YTGFLT4:1:1402:17633:21766,LH00995:48:23YTGFLT4:1:2295:9640:5372,LH00995:48:23YTGFLT4:1:2341:20699:15026,LH00995:48:23YTGFLT4:1:2359:25836:22131,LH00995:48:23YTGFLT4:3:1221:37162:16610,LH00995:48:23YTGFLT4:3:1222:44095:17156,LH00995:48:23YTGFLT4:3:1305:39088:8735,LH00995:48:23YTGFLT4:3:2135:17924:24148,LH00995:48:23YTGFLT4:3:2141:4576:23588,LH00995:48:23YTGFLT4:3:2263:4276:2443,LH00995:48:23YTGFLT4:3:2468:43108:27946,LH00995:48:23YTGFLT4:4:1263:39921:10851,LH00995:48:23YTGFLT4:4:1439:40965:12854,LH00995:48:23YTGFLT4:4:1495:51109:28716,LH00995:48:23YTGFLT4:4:2110:26208:20169,LH00995:48:23YTGFLT4:4:2117:10271:24457,LH00995:48:23YTGFLT4:4:2336:35148:8441,LH00995:48:23YTGFLT4:4:2336:35164:8441,LH00995:48:23YTGFLT4:5:1262:5555:9309,LH00995:48:23YTGFLT4:5:1305:49386:8889,LH00995:48:23YTGFLT4:5:1305:49394:8903,LH00995:48:23YTGFLT4:5:1397:11121:28338,LH00995:48:23YTGFLT4:5:2342:5951:25241,LH00995:48:23YTGFLT4:5:2449:51660:27147,LH00995:48:23YTGFLT4:7:2129:8540:12742,LH00995:48:23YTGFLT4:7:2345:32187:2639,LH00995:48:23YTGFLT4:3:1435:6542:15419

PTPN12

GNAI1

+/+

chr7:77537645

chr7:79956970

CDS/splice-site

5'UTR/splice-site

deletion

4752

medium

out-of-frame

|G-protein_alpha_subunit(100%)

ENSG00000127947.16

ENSG00000127955.17

ENST00000248594.11

ENST00000649225.1

downstream

upstream

duplicates(9),mismatches(6)

CGGCGGGGGGGCCAGCGACCGCAGCCGGGGGGACGCGGGAGGATGGAGCAAGTGGAGATCCTGAGGAAATTCATCCAGAGGGTCCAGGCCATGAAGAGTCCTGACCACAATGGGGAGGACAACTTCGCCCGGGACTTCATG|GATTATGAGAAAAAGCAATAAAGGAAGACATCAATTCTCAAGCGAATAATTTCTTCTATAGAGCCTGCTAAACAACACCAACGGCAAGTGATGAGGAGTAAATTTACTT

MEQVEILRKFIQRVQAMKSPDHNGEDNFARDFM|dyekkq*

LH00995:48:23YTGFLT4:1:1233:47145:2457,LH00995:48:23YTGFLT4:1:2226:20764:18445,LH00995:48:23YTGFLT4:2:1127:43521:12210,LH00995:48:23YTGFLT4:2:1164:29469:6002,LH00995:48:23YTGFLT4:2:1241:51417:13219,LH00995:48:23YTGFLT4:2:1426:19413:11930,LH00995:48:23YTGFLT4:2:2349:7949:25311,LH00995:48:23YTGFLT4:2:2378:47388:8931,LH00995:48:23YTGFLT4:2:2406:29517:22621,LH00995:48:23YTGFLT4:3:1111:24485:20043,LH00995:48:23YTGFLT4:3:1134:10401:5792,LH00995:48:23YTGFLT4:3:1419:15392:5834,LH00995:48:23YTGFLT4:3:1423:9770:6857,LH00995:48:23YTGFLT4:3:1423:9778:6871,LH00995:48:23YTGFLT4:3:2167:46951:12210,LH00995:48:23YTGFLT4:3:2287:12229:25185,LH00995:48:23YTGFLT4:3:2451:6663:22355,LH00995:48:23YTGFLT4:3:2473:4543:7474,LH00995:48:23YTGFLT4:4:1109:13248:12042,LH00995:48:23YTGFLT4:4:1117:20181:20127,LH00995:48:23YTGFLT4:4:1191:39889:6339,LH00995:48:23YTGFLT4:4:1385:16088:25311,LH00995:48:23YTGFLT4:4:1385:40560:6605,LH00995:48:23YTGFLT4:5:2245:23425:25746,LH00995:48:23YTGFLT4:6:1137:31249:22845,LH00995:48:23YTGFLT4:6:1373:43286:13317,LH00995:48:23YTGFLT4:6:2298:18871:1350,LH00995:48:23YTGFLT4:6:2384:46967:10725,LH00995:48:23YTGFLT4:7:1417:25035:28170,LH00995:48:23YTGFLT4:7:2490:30116:16512,LH00995:48:23YTGFLT4:4:1202:18725:21444,LH00995:48:23YTGFLT4:4:1202:18733:21458,LH00995:48:23YTGFLT4:4:2386:18102:14536,LH00995:48:23YTGFLT4:6:1330:46037:8300,LH00995:48:23YTGFLT4:6:1330:46053:8300,LH00995:48:23YTGFLT4:7:2447:32680:10921

PSME4

ACYP2

-/-

+/+

chr2:53906598

chr2:54304688

CDS/splice-site

inversion

969

1571

high

out-of-frame

Proteasome-substrate-size_regulator__mid_region(100%)|Acylphosphatase(39%)

ENSG00000068878.15

ENSG00000170634.13

ENST00000404125.6

ENST00000607452.6

upstream

duplicates(59)

CTCCATGGGAAAAAACAACATATCAGAGCACTGTTGATTGATAGAGTAATGTTACAGCATGAG___CTACGGACACTAACTGTTGAGGGTTGTGAATACAAAAAGATACATCAAGATATGATCAGAGATCTTCTTCGTTTATCTACAAGTTCATACAGTCAG|GAAGTCCTGGCTGAGCAAGGTTGGAAGCCCTAGTTCTCGCATTGACCGCACAAACTTTTCTAATGAAAAAACCATCTCTAAGCTTGAATACTCTAATTTTAGTATTAGATACTAATAGAAGAGAAAAA

LHGKKQHIRALLIDRVMLQHELRTLTVEGCEYKKIHQDMIRDLLRLSTSSYSQ|evlaeqgwkp*

LH00995:48:23YTGFLT4:1:1239:33862:3214,LH00995:48:23YTGFLT4:1:1278:51061:10416,LH00995:48:23YTGFLT4:1:1462:35140:14200,LH00995:48:23YTGFLT4:1:1477:45099:4573,LH00995:48:23YTGFLT4:1:1477:45107:4559,LH00995:48:23YTGFLT4:1:1484:10166:6815,LH00995:48:23YTGFLT4:1:1484:10182:6815,LH00995:48:23YTGFLT4:1:2106:37494:9281,LH00995:48:23YTGFLT4:1:2111:39055:21626,LH00995:48:23YTGFLT4:1:2435:27980:24807,LH00995:48:23YTGFLT4:2:1103:25723:8370,LH00995:48:23YTGFLT4:2:1168:34622:8651,LH00995:48:23YTGFLT4:2:1168:34784:9660,LH00995:48:23YTGFLT4:2:1168:34792:9674,LH00995:48:23YTGFLT4:2:1168:34808:9674,LH00995:48:23YTGFLT4:2:1168:34816:9688,LH00995:48:23YTGFLT4:2:1168:34832:9688,LH00995:48:23YTGFLT4:2:1235:46644:17787,LH00995:48:23YTGFLT4:2:1255:24599:29263,LH00995:48:23YTGFLT4:2:1294:4155:14844,LH00995:48:23YTGFLT4:2:1340:10223:24737,LH00995:48:23YTGFLT4:2:1390:19567:9001,LH00995:48:23YTGFLT4:2:1433:42858:4363,LH00995:48:23YTGFLT4:2:1469:49168:26586,LH00995:48:23YTGFLT4:2:1477:9713:4713,LH00995:48:23YTGFLT4:2:1489:26839:24989,LH00995:48:23YTGFLT4:2:2154:45455:24050,LH00995:48:23YTGFLT4:2:2322:14753:28660,LH00995:48:23YTGFLT4:2:2356:8572:20673,LH00995:48:23YTGFLT4:2:2373:21144:7025,LH00995:48:23YTGFLT4:2:2478:33813:14200,LH00995:48:23YTGFLT4:3:1102:19089:3326,LH00995:48:23YTGFLT4:3:1123:35730:9449,LH00995:48:23YTGFLT4:3:1245:24162:29515,LH00995:48:23YTGFLT4:3:1245:24170:29529,LH00995:48:23YTGFLT4:3:1261:48351:5470,LH00995:48:23YTGFLT4:3:1327:38602:16946,LH00995:48:23YTGFLT4:3:1407:20885:22046,LH00995:48:23YTGFLT4:3:1456:10481:16105,LH00995:48:23YTGFLT4:3:1456:10490:16119,LH00995:48:23YTGFLT4:3:2167:21686:19790,LH00995:48:23YTGFLT4:3:2173:7270:20211,LH00995:48:23YTGFLT4:3:2182:47178:3915,LH00995:48:23YTGFLT4:3:2369:19550:21220,LH00995:48:23YTGFLT4:4:1370:33773:9814,LH00995:48:23YTGFLT4:4:1417:25917:25017,LH00995:48:23YTGFLT4:4:2159:17957:27175,LH00995:48:23YTGFLT4:4:2294:41507:27049,LH00995:48:23YTGFLT4:4:2341:31718:22761,LH00995:48:23YTGFLT4:4:2362:30310:14746,LH00995:48:23YTGFLT4:5:1222:20626:27567,LH00995:48:23YTGFLT4:5:1222:20626:27595,LH00995:48:23YTGFLT4:5:1222:20634:27581,LH00995:48:23YTGFLT4:5:1231:2634:8427,LH00995:48:23YTGFLT4:5:1337:30221:18207,LH00995:48:23YTGFLT4:5:1394:11201:11916,LH00995:48:23YTGFLT4:5:1445:38012:11832,LH00995:48:23YTGFLT4:5:2144:48286:26600,LH00995:48:23YTGFLT4:5:2213:46886:28240,LH00995:48:23YTGFLT4:5:2292:46102:9337,LH00995:48:23YTGFLT4:5:2292:46110:9323,LH00995:48:23YTGFLT4:5:2301:47129:19608,LH00995:48:23YTGFLT4:5:2313:32349:7488,LH00995:48:23YTGFLT4:5:2313:32357:7474,LH00995:48:23YTGFLT4:5:2497:41458:6086,LH00995:48:23YTGFLT4:6:1139:19356:13401,LH00995:48:23YTGFLT4:6:1181:3613:20463,LH00995:48:23YTGFLT4:6:1192:24259:27890,LH00995:48:23YTGFLT4:6:1274:38780:17871,LH00995:48:23YTGFLT4:6:1328:49872:22929,LH00995:48:23YTGFLT4:6:1330:45252:16862,LH00995:48:23YTGFLT4:6:1340:7658:7263,LH00995:48:23YTGFLT4:6:1392:32147:3522,LH00995:48:23YTGFLT4:6:1392:32155:3536,LH00995:48:23YTGFLT4:6:1392:39970:2836,LH00995:48:23YTGFLT4:6:2117:36758:29025,LH00995:48:23YTGFLT4:6:2181:31095:18543,LH00995:48:23YTGFLT4:6:2339:46328:15671,LH00995:48:23YTGFLT4:6:2437:42105:8244,LH00995:48:23YTGFLT4:6:2439:14858:24835,LH00995:48:23YTGFLT4:7:1146:44128:9590,LH00995:48:23YTGFLT4:7:1192:10247:1350,LH00995:48:23YTGFLT4:7:1306:49605:11341,LH00995:48:23YTGFLT4:7:1326:48513:7011,LH00995:48:23YTGFLT4:7:1373:35358:25171,LH00995:48:23YTGFLT4:7:1430:26128:22775,LH00995:48:23YTGFLT4:7:1439:21816:27777,LH00995:48:23YTGFLT4:7:1460:40851:2149,LH00995:48:23YTGFLT4:7:2120:28765:25662,LH00995:48:23YTGFLT4:7:2191:8200:25493,LH00995:48:23YTGFLT4:7:2264:51215:14690,LH00995:48:23YTGFLT4:7:2331:10878:11495,LH00995:48:23YTGFLT4:7:2342:38772:21444,LH00995:48:23YTGFLT4:7:2398:13410:18375,LH00995:48:23YTGFLT4:7:2437:45382:8735,LH00995:48:23YTGFLT4:8:1198:33376:11369,LH00995:48:23YTGFLT4:8:1204:14915:18824,LH00995:48:23YTGFLT4:8:1238:34218:15377,LH00995:48:23YTGFLT4:8:1307:44459:8763,LH00995:48:23YTGFLT4:8:1389:19219:23868,LH00995:48:23YTGFLT4:8:1417:31273:3130,LH00995:48:23YTGFLT4:8:2136:2966:4545,LH00995:48:23YTGFLT4:1:1177:1049:9716,LH00995:48:23YTGFLT4:1:1209:43011:8609,LH00995:48:23YTGFLT4:1:1461:34493:9323,LH00995:48:23YTGFLT4:1:1486:34840:2135,LH00995:48:23YTGFLT4:2:1182:12043:10346,LH00995:48:23YTGFLT4:2:1216:40859:13009,LH00995:48:23YTGFLT4:2:1242:42987:10304,LH00995:48:23YTGFLT4:2:1254:20788:7670,LH00995:48:23YTGFLT4:2:1494:27470:11425,LH00995:48:23YTGFLT4:2:2198:45034:21892,LH00995:48:23YTGFLT4:2:2208:15748:27385,LH00995:48:23YTGFLT4:3:1176:31232:22313,LH00995:48:23YTGFLT4:3:1321:17479:3676,LH00995:48:23YTGFLT4:3:2129:24833:3046,LH00995:48:23YTGFLT4:3:2134:8791:28170,LH00995:48:23YTGFLT4:3:2264:40083:9477,LH00995:48:23YTGFLT4:4:1207:5255:15208,LH00995:48:23YTGFLT4:4:1283:14211:18922,LH00995:48:23YTGFLT4:4:1283:14219:18908,LH00995:48:23YTGFLT4:4:1283:14227:18894,LH00995:48:23YTGFLT4:4:2254:47590:3424,LH00995:48:23YTGFLT4:4:2294:40245:8749,LH00995:48:23YTGFLT4:4:2451:24097:6451,LH00995:48:23YTGFLT4:5:2239:32244:27371,LH00995:48:23YTGFLT4:5:2346:23377:28380,LH00995:48:23YTGFLT4:5:2348:41086:9113,LH00995:48:23YTGFLT4:6:1217:10271:26755,LH00995:48:23YTGFLT4:6:1217:10279:26769,LH00995:48:23YTGFLT4:6:1410:39403:10851,LH00995:48:23YTGFLT4:6:1472:41725:8707,LH00995:48:23YTGFLT4:6:2128:31249:13569,LH00995:48:23YTGFLT4:6:2189:45147:24302,LH00995:48:23YTGFLT4:6:2213:12569:17114,LH00995:48:23YTGFLT4:6:2250:6566:5400,LH00995:48:23YTGFLT4:6:2394:47930:20799,LH00995:48:23YTGFLT4:6:2469:12925:26278,LH00995:48:23YTGFLT4:6:2494:23215:15937,LH00995:48:23YTGFLT4:7:1135:4632:18137,LH00995:48:23YTGFLT4:7:1411:7610:12644,LH00995:48:23YTGFLT4:7:2213:20440:28562,LH00995:48:23YTGFLT4:7:2241:10384:25073,LH00995:48:23YTGFLT4:8:1367:30812:14298,LH00995:48:23YTGFLT4:8:2146:29509:20757,LH00995:48:23YTGFLT4:5:2105:50017:24527

PSME4

ACYP2

-/-

+/+

chr2:53906598

chr2:54222997

CDS/splice-site

inversion

969

high

out-of-frame

Proteasome-substrate-size_regulator__mid_region(100%)|Acylphosphatase(39%)

ENSG00000068878.15

ENSG00000170634.13

ENST00000404125.6

ENST00000494922.6

upstream

duplicates(42)

CCGATGGAAAAGCTTCAACTTAGTAAAGAAATCAATGGAAAATCGG___CTCCATGGGAAAAAACAACATATCAGAGCACTGTTGATTGATAGAGTAATGTTACAGCATGAG___CTACGGACACTAACTGTTGAGGGTTGTGAATACAAAAAGATACATCAAGATATGATCAGAGATCTTCTTCGTTTATCTACAAGTTCATACAGTCAG|ATTAGCTTTTCCCTTCTATTGAAGCCTTGATAGCCCAGATACCCAACAACTTTGGAGTCATGCCTCTACCCTCAAGCTGGAGTGTCA___GAAGTCCTGGCTGAGCAAGGTTGGAAGCCCTAGTTCTCGCATTGACCGCACAAACTTTTCTAATG

RWKSFNLVKKSMENRLHGKKQHIRALLIDRVMLQHELRTLTVEGCEYKKIHQDMIRDLLRLSTSSYSQ|isfslllkp*

LH00995:48:23YTGFLT4:1:1184:50972:22873,LH00995:48:23YTGFLT4:1:1191:10926:26516,LH00995:48:23YTGFLT4:1:1191:10935:26502,LH00995:48:23YTGFLT4:1:1336:2278:23476,LH00995:48:23YTGFLT4:1:1351:8564:28114,LH00995:48:23YTGFLT4:1:1351:8580:28114,LH00995:48:23YTGFLT4:1:1351:8597:28114,LH00995:48:23YTGFLT4:1:1454:31588:16371,LH00995:48:23YTGFLT4:1:1456:14195:24695,LH00995:48:23YTGFLT4:1:2261:12302:19819,LH00995:48:23YTGFLT4:1:2327:27470:16498,LH00995:48:23YTGFLT4:1:2373:13054:17983,LH00995:48:23YTGFLT4:1:2392:46579:3214,LH00995:48:23YTGFLT4:1:2446:48359:13919,LH00995:48:23YTGFLT4:2:1384:43618:8763,LH00995:48:23YTGFLT4:2:2134:1906:2597,LH00995:48:23YTGFLT4:2:2162:29647:26657,LH00995:48:23YTGFLT4:2:2192:20853:20897,LH00995:48:23YTGFLT4:2:2192:20893:20911,LH00995:48:23YTGFLT4:2:2202:26208:21178,LH00995:48:23YTGFLT4:2:2234:18976:9968,LH00995:48:23YTGFLT4:2:2415:44532:16343,LH00995:48:23YTGFLT4:2:2415:44540:16329,LH00995:48:23YTGFLT4:3:1444:42073:12672,LH00995:48:23YTGFLT4:3:2236:20796:19286,LH00995:48:23YTGFLT4:3:2239:6566:6353,LH00995:48:23YTGFLT4:3:2368:18159:10122,LH00995:48:23YTGFLT4:3:2431:21929:5442,LH00995:48:23YTGFLT4:3:2431:25529:23560,LH00995:48:23YTGFLT4:3:2438:28466:3985,LH00995:48:23YTGFLT4:4:1206:8006:27483,LH00995:48:23YTGFLT4:4:1206:8249:15377,LH00995:48:23YTGFLT4:4:1372:17034:14900,LH00995:48:23YTGFLT4:4:1376:18749:27932,LH00995:48:23YTGFLT4:4:1413:51279:16063,LH00995:48:23YTGFLT4:4:1422:2238:6759,LH00995:48:23YTGFLT4:4:2192:31766:20855,LH00995:48:23YTGFLT4:4:2220:42858:9744,LH00995:48:23YTGFLT4:4:2227:27244:27091,LH00995:48:23YTGFLT4:4:2412:6121:7880,LH00995:48:23YTGFLT4:4:2475:25213:13933,LH00995:48:23YTGFLT4:5:1130:5021:3844,LH00995:48:23YTGFLT4:5:1162:42372:4755,LH00995:48:23YTGFLT4:5:1162:42388:4755,LH00995:48:23YTGFLT4:5:1174:12625:9141,LH00995:48:23YTGFLT4:5:1181:10579:13387,LH00995:48:23YTGFLT4:5:1291:22956:15741,LH00995:48:23YTGFLT4:5:1373:3565:22117,LH00995:48:23YTGFLT4:5:1489:30496:27147,LH00995:48:23YTGFLT4:5:1489:30504:27161,LH00995:48:23YTGFLT4:5:2304:10263:9309,LH00995:48:23YTGFLT4:5:2373:43990:10332,LH00995:48:23YTGFLT4:5:2474:39395:1617,LH00995:48:23YTGFLT4:6:1343:18984:16091,LH00995:48:23YTGFLT4:6:1427:46442:7039,LH00995:48:23YTGFLT4:6:1435:40536:14073,LH00995:48:23YTGFLT4:6:1476:28021:26951,LH00995:48:23YTGFLT4:6:1498:1615:29193,LH00995:48:23YTGFLT4:6:1498:1631:29193,LH00995:48:23YTGFLT4:6:2186:12609:5078,LH00995:48:23YTGFLT4:6:2191:20513:23784,LH00995:48:23YTGFLT4:6:2230:3095:23153,LH00995:48:23YTGFLT4:6:2243:23547:28702,LH00995:48:23YTGFLT4:6:2308:51231:10963,LH00995:48:23YTGFLT4:6:2383:50948:6857,LH00995:48:23YTGFLT4:7:1155:22269:18249,LH00995:48:23YTGFLT4:7:1155:22277:18235,LH00995:48:23YTGFLT4:7:1155:22285:18249,LH00995:48:23YTGFLT4:7:1160:34832:22943,LH00995:48:23YTGFLT4:7:1391:45811:9309,LH00995:48:23YTGFLT4:7:2203:4519:16400,LH00995:48:23YTGFLT4:7:2280:25076:6913,LH00995:48:23YTGFLT4:7:2382:2966:26320,LH00995:48:23YTGFLT4:7:2430:8127:16203,LH00995:48:23YTGFLT4:8:1129:45171:16273,LH00995:48:23YTGFLT4:8:1153:2958:16806,LH00995:48:23YTGFLT4:8:1227:6566:27175,LH00995:48:23YTGFLT4:8:1452:28190:12672,LH00995:48:23YTGFLT4:8:2145:21856:19804,LH00995:48:23YTGFLT4:1:1114:14017:26685,LH00995:48:23YTGFLT4:1:2378:42421:25578,LH00995:48:23YTGFLT4:2:1176:44686:17366,LH00995:48:23YTGFLT4:2:1176:44694:17380,LH00995:48:23YTGFLT4:2:1176:44702:17366,LH00995:48:23YTGFLT4:2:1470:10991:2387,LH00995:48:23YTGFLT4:2:2311:47971:13107,LH00995:48:23YTGFLT4:3:1269:11509:7824,LH00995:48:23YTGFLT4:3:1353:13920:6899,LH00995:48:23YTGFLT4:3:1436:44896:17142,LH00995:48:23YTGFLT4:4:1154:9867:27119,LH00995:48:23YTGFLT4:4:1383:31572:2752,LH00995:48:23YTGFLT4:4:2323:49257:22397,LH00995:48:23YTGFLT4:5:1272:10894:25199,LH00995:48:23YTGFLT4:5:1360:4293:14101,LH00995:48:23YTGFLT4:5:1467:41846:16400,LH00995:48:23YTGFLT4:5:2132:4713:2387,LH00995:48:23YTGFLT4:6:1223:5733:19875,LH00995:48:23YTGFLT4:6:2479:12116:18459,LH00995:48:23YTGFLT4:8:1277:8321:5666,LH00995:48:23YTGFLT4:8:1429:29364:16245,LH00995:48:23YTGFLT4:1:1275:35350:26278,LH00995:48:23YTGFLT4:5:2105:50017:24527,LH00995:48:23YTGFLT4:6:2415:31459:29459,LH00995:48:23YTGFLT4:8:1445:37963:26236,LH00995:48:23YTGFLT4:8:1445:37979:26236,LH00995:48:23YTGFLT4:8:1445:37987:26222

PSME4

ACYP2

-/-

+/+

chr2:53906598

chr2:54267296

CDS/splice-site

inversion

969

high

out-of-frame

Proteasome-substrate-size_regulator__mid_region(100%)|Acylphosphatase(39%)

ENSG00000068878.15

ENSG00000170634.13

ENST00000404125.6

ENST00000303536.8

upstream

duplicates(6)

CGATGGAAAAGCTTCAACTTAGTAAAGAAATCAATGGAAAATCGG___CTCCATGGGAAAAAACAACATATCAGAGCACTGTTGATTGATAGAGTAATGTTACAGCATGAG___CTACGGACACTAACTGTTGAGGGTTGTGAATACAAAAAGATACATCAAGATATGATCAGAGATCTTCTTCGTTTATCTACAAGTTCATACAGTCAG|GAATTCATCAGCTCCGGAAGCTGGGTGAAGAAAAGAAACAAGATAGGGCAACAGCTAGAGGAGAATTCAG___GAAGTCCTGGCTGAGCAAGGTTGGAAGCCCTAGTTCTCGCATTGACCGCACAAACTTTTCTAATGAAAAAACCATCTCTAAGCTTGAATAtTCTAATTTTAGTATTAGATACTAATAGAAGAGAAAAA

RWKSFNLVKKSMENRLHGKKQHIRALLIDRVMLQHELRTLTVEGCEYKKIHQDMIRDLLRLSTSSYSQ|efissgswvkkrnkigqqleensgspg*

LH00995:48:23YTGFLT4:1:1327:32591:21696,LH00995:48:23YTGFLT4:2:1112:26128:22467,LH00995:48:23YTGFLT4:2:1112:26136:22481,LH00995:48:23YTGFLT4:6:1382:19858:23322,LH00995:48:23YTGFLT4:1:1275:35350:26278,LH00995:48:23YTGFLT4:5:2105:50017:24527,LH00995:48:23YTGFLT4:6:2415:31459:29459,LH00995:48:23YTGFLT4:8:1445:37963:26236,LH00995:48:23YTGFLT4:8:1445:37979:26236,LH00995:48:23YTGFLT4:8:1445:37987:26222

ACYP2

PSME4

+/+

-/-

chr2:54267365

chr2:53937529

3'UTR/splice-site

CDS

inversion

100

2213

low

stop-codon

Acylphosphatase(60%)|Domain_of_unknown_function_(DUF3437)(100%),Proteasome-substrate-size_regulator__mid_region(100%)

ENSG00000170634.13

ENSG00000068878.15

ENST00000303536.8

ENST00000404125.6

downstream

ATCTACATACAGGGGTGATATGAAGATTAATTAAATAAGTTGAAATGTAGTGGTTAAGAGTG___GAATTCATCAGCTCCGGAAGCTGGGTGAAGAAAAGAAACAAGATAGGGCAACAGCTAGAGGAGAATTCAG|CAGATGCCACCGCTGAGATGCTAGAAGAATGGCGACCTTTAATGTGCC

LH00995:48:23YTGFLT4:4:1256:10676:22131

SMARCA5

CACNA1C

+/+

chr4:143525551

chr12:2115224

CDS/splice-site

translocation

1784

1250

high

out-of-frame

SNF2-related_domain(5%)|Ion_transport_protein(100%),Voltage-dependent_L-type_calcium_channel__IQ-associated(100%),Voltage-gated_calcium_channel_subunit_alpha__C-term(100%),Voltage_gated_calcium_channel_IQ_domain(100%)

ENSG00000153147.6

ENSG00000151067.22

ENST00000283131.4

ENST00000399655.6

downstream

upstream

duplicates(46)

AAGCAACCAATGTTTGCACTCGATTTGAAGACTCTCCATCGT___ATGTAAAATGGGGTAAACTGAGAGATTATCAGGTCCGAGGATTAAACTGGCTCATTTCTTTGTATGAGAATGGCATCAATGGTATCCTTGCAGATGAAATG|GTTCCAACTATGGGAGCCCACGCCCCGCCCATGCCAACATGAATGCCAATGCGGCAGCGGGGCTGGCCCCTGAGCACATCCCCACCCCGGGGGCTGCCCTGTCGTGGCAGGCGGCCATCGACGCAGCCCGGCAGGCTAAGCTGATGGGCAGCGCTGGCAATGCGACC

ATNVCTRFEDSPSYVKWGKLRDYQVRGLNWLISLYENGINGILADEM|vptmgahappmpt*

LH00995:48:23YTGFLT4:1:1268:28830:12770,LH00995:48:23YTGFLT4:1:1268:28838:12784,LH00995:48:23YTGFLT4:1:1288:15384:17871,LH00995:48:23YTGFLT4:1:1370:22503:1925,LH00995:48:23YTGFLT4:1:1450:42000:23868,LH00995:48:23YTGFLT4:1:1450:42008:23882,LH00995:48:23YTGFLT4:1:1490:14947:4419,LH00995:48:23YTGFLT4:1:2195:38190:20687,LH00995:48:23YTGFLT4:1:2202:22738:23181,LH00995:48:23YTGFLT4:1:2260:13871:10234,LH00995:48:23YTGFLT4:1:2345:10668:14522,LH00995:48:23YTGFLT4:1:2351:50616:7039,LH00995:48:23YTGFLT4:1:2420:7885:27049,LH00995:48:23YTGFLT4:2:1119:6606:27245,LH00995:48:23YTGFLT4:2:1160:5312:24106,LH00995:48:23YTGFLT4:2:1257:13887:13597,LH00995:48:23YTGFLT4:2:1294:1947:6395,LH00995:48:23YTGFLT4:2:1294:1955:6409,LH00995:48:23YTGFLT4:2:1321:47671:7348,LH00995:48:23YTGFLT4:2:1357:14332:12742,LH00995:48:23YTGFLT4:2:1365:15910:13681,LH00995:48:23YTGFLT4:2:2118:14033:11663,LH00995:48:23YTGFLT4:2:2357:12447:18389,LH00995:48:23YTGFLT4:3:1179:43974:9519,LH00995:48:23YTGFLT4:3:1179:43982:9505,LH00995:48:23YTGFLT4:3:1314:14462:20477,LH00995:48:23YTGFLT4:3:1325:20861:21304,LH00995:48:23YTGFLT4:3:2126:38408:21934,LH00995:48:23YTGFLT4:3:2193:48788:10374,LH00995:48:23YTGFLT4:3:2216:45770:4531,LH00995:48:23YTGFLT4:3:2310:9373:17324,LH00995:48:23YTGFLT4:3:2448:25683:19875,LH00995:48:23YTGFLT4:3:2493:3969:14354,LH00995:48:23YTGFLT4:4:1415:10352:27960,LH00995:48:23YTGFLT4:4:2118:49152:21010,LH00995:48:23YTGFLT4:4:2224:28546:19622,LH00995:48:23YTGFLT4:4:2225:28134:16750,LH00995:48:23YTGFLT4:4:2233:17730:11986,LH00995:48:23YTGFLT4:4:2436:22908:14648,LH00995:48:23YTGFLT4:4:2469:25739:15461,LH00995:48:23YTGFLT4:4:2473:3896:2429,LH00995:48:23YTGFLT4:5:1296:45357:2892,LH00995:48:23YTGFLT4:5:1434:2400:23630,LH00995:48:23YTGFLT4:5:2126:33942:5344,LH00995:48:23YTGFLT4:5:2259:26006:17212,LH00995:48:23YTGFLT4:5:2263:22964:11047,LH00995:48:23YTGFLT4:5:2336:33368:20239,LH00995:48:23YTGFLT4:5:2349:3476:23896,LH00995:48:23YTGFLT4:6:1411:27462:6815,LH00995:48:23YTGFLT4:6:2272:25974:7880,LH00995:48:23YTGFLT4:6:2280:13289:5386,LH00995:48:23YTGFLT4:6:2373:22503:9716,LH00995:48:23YTGFLT4:6:2378:44807:17689,LH00995:48:23YTGFLT4:6:2478:24032:16624,LH00995:48:23YTGFLT4:6:2489:41612:29389,LH00995:48:23YTGFLT4:7:1143:11824:1252,LH00995:48:23YTGFLT4:7:1174:21379:18754,LH00995:48:23YTGFLT4:7:1174:5579:9688,LH00995:48:23YTGFLT4:7:1174:5595:9688,LH00995:48:23YTGFLT4:7:1297:47558:12588,LH00995:48:23YTGFLT4:7:1408:18199:16498,LH00995:48:23YTGFLT4:7:1442:14429:8258,LH00995:48:23YTGFLT4:7:2113:42583:3326,LH00995:48:23YTGFLT4:7:2382:34735:8483,LH00995:48:23YTGFLT4:7:2452:51376:27974,LH00995:48:23YTGFLT4:8:1243:20764:10402,LH00995:48:23YTGFLT4:8:1263:27373:24653,LH00995:48:23YTGFLT4:1:1143:13515:23602,LH00995:48:23YTGFLT4:1:1301:42752:13345,LH00995:48:23YTGFLT4:1:1429:23830:22243,LH00995:48:23YTGFLT4:1:1447:39549:17520,LH00995:48:23YTGFLT4:1:2148:26411:21276,LH00995:48:23YTGFLT4:1:2148:26427:21276,LH00995:48:23YTGFLT4:1:2179:34193:22957,LH00995:48:23YTGFLT4:1:2189:5700:25620,LH00995:48:23YTGFLT4:1:2216:25941:28674,LH00995:48:23YTGFLT4:1:2341:33845:27063,LH00995:48:23YTGFLT4:1:2488:22495:5974,LH00995:48:23YTGFLT4:3:1152:26702:8497,LH00995:48:23YTGFLT4:3:1152:26718:8497,LH00995:48:23YTGFLT4:3:1249:9648:20155,LH00995:48:23YTGFLT4:3:1284:34250:12546,LH00995:48:23YTGFLT4:3:1361:4738:27623,LH00995:48:23YTGFLT4:3:1426:18984:5190,LH00995:48:23YTGFLT4:3:1471:50090:28296,LH00995:48:23YTGFLT4:3:1471:50098:28282,LH00995:48:23YTGFLT4:3:2108:19923:7404,LH00995:48:23YTGFLT4:3:2110:24946:17394,LH00995:48:23YTGFLT4:3:2243:9090:6353,LH00995:48:23YTGFLT4:3:2361:12002:26979,LH00995:48:23YTGFLT4:3:2406:25634:24022,LH00995:48:23YTGFLT4:3:2424:37607:26572,LH00995:48:23YTGFLT4:3:2442:5716:20968,LH00995:48:23YTGFLT4:3:2462:17091:2303,LH00995:48:23YTGFLT4:4:1280:10174:16133,LH00995:48:23YTGFLT4:4:2110:15772:28744,LH00995:48:23YTGFLT4:4:2240:31103:23322,LH00995:48:23YTGFLT4:4:2375:46806:20029,LH00995:48:23YTGFLT4:5:1208:18232:17282,LH00995:48:23YTGFLT4:5:1227:3767:9856,LH00995:48:23YTGFLT4:5:1282:9972:6675,LH00995:48:23YTGFLT4:5:1304:5749:1434,LH00995:48:23YTGFLT4:5:1458:46506:3957,LH00995:48:23YTGFLT4:5:2252:47437:28464,LH00995:48:23YTGFLT4:6:1267:47946:23462,LH00995:48:23YTGFLT4:6:1403:50147:23238,LH00995:48:23YTGFLT4:6:2348:34905:16231,LH00995:48:23YTGFLT4:6:2352:48221:12728,LH00995:48:23YTGFLT4:6:2403:34379:19804,LH00995:48:23YTGFLT4:7:1125:28983:13205,LH00995:48:23YTGFLT4:7:1144:32130:18179,LH00995:48:23YTGFLT4:7:1179:23765:18319,LH00995:48:23YTGFLT4:7:1179:9527:16077,LH00995:48:23YTGFLT4:7:1216:26977:13177,LH00995:48:23YTGFLT4:7:1396:10514:3718,LH00995:48:23YTGFLT4:7:2321:33222:21080,LH00995:48:23YTGFLT4:7:2340:25844:29067,LH00995:48:23YTGFLT4:8:2127:34541:15489,LH00995:48:23YTGFLT4:2:1174:5263:21332

SMARCA5

CACNA1C

+/+

chr4:143526460

chr12:2115224

CDS/splice-site

translocation

1078

1250

high

out-of-frame

SNF2-related_domain(27%)|Ion_transport_protein(100%),Voltage-dependent_L-type_calcium_channel__IQ-associated(100%),Voltage-gated_calcium_channel_subunit_alpha__C-term(100%),Voltage_gated_calcium_channel_IQ_domain(100%)

ENSG00000153147.6

ENSG00000151067.22

ENST00000283131.4

ENST00000399655.6

downstream

upstream

duplicates(21)

GAAACATTCCTGGGCCTCATATGGTTTTGGTTCCTAAGTCTACATTACACAACTGGATGAGTGAATTCAAGAGATGGGTACCAACACTTAGATCTGTTTGTTTGATAGGAGATAAAGAACAAAGA|GTTCCAACTATGGGAGCCCACGCCCCGCCCATGCCAACATGAATGCCAATGCGGCAGCGGGGCTGGCCCCTGAGCACATCCCCACCCCGGGGGCTGCCCTGTCGTGGCAGGCGGCCATCGACGCAGCCCGGCAGGCTAAGCTGAT

NIPGPHMVLVPKSTLHNWMSEFKRWVPTLRSVCLIGDKEQR|vptmgahappmpt*

LH00995:48:23YTGFLT4:1:2258:27074:19006,LH00995:48:23YTGFLT4:2:1477:45414:26895,LH00995:48:23YTGFLT4:2:2162:4754:5708,LH00995:48:23YTGFLT4:2:2262:41304:19440,LH00995:48:23YTGFLT4:2:2262:41312:19454,LH00995:48:23YTGFLT4:3:1105:11744:16077,LH00995:48:23YTGFLT4:3:1478:8807:25564,LH00995:48:23YTGFLT4:3:1479:4584:5078,LH00995:48:23YTGFLT4:4:1146:16994:7235,LH00995:48:23YTGFLT4:4:2401:13669:16049,LH00995:48:23YTGFLT4:5:1320:2974:8791,LH00995:48:23YTGFLT4:5:2167:6420:23392,LH00995:48:23YTGFLT4:5:2466:39897:21206,LH00995:48:23YTGFLT4:6:1218:15141:11621,LH00995:48:23YTGFLT4:6:1303:29776:7964,LH00995:48:23YTGFLT4:7:2214:3443:5064,LH00995:48:23YTGFLT4:1:1310:49621:14284,LH00995:48:23YTGFLT4:1:2104:20327:20603,LH00995:48:23YTGFLT4:1:2338:29776:13065,LH00995:48:23YTGFLT4:1:2404:19089:14732,LH00995:48:23YTGFLT4:2:1412:20214:25536,LH00995:48:23YTGFLT4:2:1412:20230:25536,LH00995:48:23YTGFLT4:2:2197:10773:29641,LH00995:48:23YTGFLT4:2:2386:10506:4629,LH00995:48:23YTGFLT4:3:1142:46061:10360,LH00995:48:23YTGFLT4:3:1441:5369:11005,LH00995:48:23YTGFLT4:3:1441:5377:10991,LH00995:48:23YTGFLT4:3:2127:40811:17184,LH00995:48:23YTGFLT4:3:2339:13653:10360,LH00995:48:23YTGFLT4:4:1123:36895:4965,LH00995:48:23YTGFLT4:4:1123:36912:4965,LH00995:48:23YTGFLT4:4:2130:16808:26979,LH00995:48:23YTGFLT4:4:2134:16436:8286,LH00995:48:23YTGFLT4:5:1115:15683:22257,LH00995:48:23YTGFLT4:5:1254:47962:22537,LH00995:48:23YTGFLT4:5:1254:47979:22537,LH00995:48:23YTGFLT4:5:1353:24299:8903,LH00995:48:23YTGFLT4:5:2351:26985:3999,LH00995:48:23YTGFLT4:6:1404:4171:8427,LH00995:48:23YTGFLT4:6:1476:4236:18431,LH00995:48:23YTGFLT4:7:1132:4090:10444,LH00995:48:23YTGFLT4:7:1132:4098:10430,LH00995:48:23YTGFLT4:7:1206:2335:7656,LH00995:48:23YTGFLT4:7:1275:13580:10234,LH00995:48:23YTGFLT4:7:1406:32567:7894,LH00995:48:23YTGFLT4:7:1406:32575:7880,LH00995:48:23YTGFLT4:7:2266:11258:10893,LH00995:48:23YTGFLT4:7:2275:7690:6843,LH00995:48:23YTGFLT4:8:1297:4479:2121,LH00995:48:23YTGFLT4:2:1174:5263:21332

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

558

270

high

stop-codon

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(44),mismappers(2)

ATTTTATTTTTTGTAGAGACGGTCTCGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGC

LH00995:48:23YTGFLT4:1:1251:39112:26096,LH00995:48:23YTGFLT4:1:1389:3767:12966,LH00995:48:23YTGFLT4:1:2378:27276:25409,LH00995:48:23YTGFLT4:2:1207:9373:1659,LH00995:48:23YTGFLT4:2:1270:29145:19847,LH00995:48:23YTGFLT4:2:1395:49127:5218,LH00995:48:23YTGFLT4:2:1418:6841:9099,LH00995:48:23YTGFLT4:2:2228:41822:22299,LH00995:48:23YTGFLT4:2:2423:49419:27217,LH00995:48:23YTGFLT4:3:1179:33659:3116,LH00995:48:23YTGFLT4:3:1197:11962:9449,LH00995:48:23YTGFLT4:3:1234:8564:5162,LH00995:48:23YTGFLT4:3:1234:8572:5176,LH00995:48:23YTGFLT4:3:1234:8588:5176,LH00995:48:23YTGFLT4:3:1234:8993:6213,LH00995:48:23YTGFLT4:3:1315:8087:28492,LH00995:48:23YTGFLT4:3:1324:10789:14956,LH00995:48:23YTGFLT4:3:1324:10797:14942,LH00995:48:23YTGFLT4:3:1366:15740:21962,LH00995:48:23YTGFLT4:3:1429:38295:6465,LH00995:48:23YTGFLT4:3:2197:11428:15110,LH00995:48:23YTGFLT4:3:2239:39468:17549,LH00995:48:23YTGFLT4:3:2422:18563:19398,LH00995:48:23YTGFLT4:4:1166:16274:11481,LH00995:48:23YTGFLT4:4:1308:26111:5624,LH00995:48:23YTGFLT4:4:1382:40576:6885,LH00995:48:23YTGFLT4:4:2140:45366:9884,LH00995:48:23YTGFLT4:4:2153:4333:3102,LH00995:48:23YTGFLT4:4:2224:29380:19861,LH00995:48:23YTGFLT4:4:2382:37381:7544,LH00995:48:23YTGFLT4:5:1176:27042:25620,LH00995:48:23YTGFLT4:5:1245:40423:23406,LH00995:48:23YTGFLT4:5:2173:4463:16890,LH00995:48:23YTGFLT4:5:2173:4471:16876,LH00995:48:23YTGFLT4:5:2476:2667:6633,LH00995:48:23YTGFLT4:6:1233:7423:23223,LH00995:48:23YTGFLT4:6:1246:48723:9702,LH00995:48:23YTGFLT4:6:1274:29258:25199,LH00995:48:23YTGFLT4:6:1274:29266:25213,LH00995:48:23YTGFLT4:6:1463:29210:7964,LH00995:48:23YTGFLT4:6:2197:9357:3424,LH00995:48:23YTGFLT4:7:1376:28902:10654,LH00995:48:23YTGFLT4:7:1402:7561:15643,LH00995:48:23YTGFLT4:7:1496:48310:5876,LH00995:48:23YTGFLT4:7:2184:43028:2331,LH00995:48:23YTGFLT4:7:2438:30820:18880,LH00995:48:23YTGFLT4:8:1180:3694:5694,LH00995:48:23YTGFLT4:1:1182:30520:26544,LH00995:48:23YTGFLT4:1:1303:16509:19819,LH00995:48:23YTGFLT4:1:1323:6979:22060,LH00995:48:23YTGFLT4:1:1331:42761:15012,LH00995:48:23YTGFLT4:1:1416:35512:28408,LH00995:48:23YTGFLT4:1:2107:13540:8006,LH00995:48:23YTGFLT4:1:2273:40512:27792,LH00995:48:23YTGFLT4:1:2295:37049:21822,LH00995:48:23YTGFLT4:1:2316:26362:24667,LH00995:48:23YTGFLT4:2:1154:34509:4055,LH00995:48:23YTGFLT4:2:1321:13596:15082,LH00995:48:23YTGFLT4:2:1378:39824:1659,LH00995:48:23YTGFLT4:2:2111:36774:21402,LH00995:48:23YTGFLT4:2:2117:45697:8104,LH00995:48:23YTGFLT4:2:2123:25594:15601,LH00995:48:23YTGFLT4:2:2337:1275:11201,LH00995:48:23YTGFLT4:2:2383:44063:11327,LH00995:48:23YTGFLT4:3:1105:13273:7320,LH00995:48:23YTGFLT4:3:1176:24129:8244,LH00995:48:23YTGFLT4:3:1176:24145:8244,LH00995:48:23YTGFLT4:3:1353:19033:1406,LH00995:48:23YTGFLT4:3:1419:31952:7278,LH00995:48:23YTGFLT4:3:2223:20473:8749,LH00995:48:23YTGFLT4:4:1148:46150:22201,LH00995:48:23YTGFLT4:4:1204:22147:23308,LH00995:48:23YTGFLT4:4:1250:18005:17731,LH00995:48:23YTGFLT4:4:1354:44904:12476,LH00995:48:23YTGFLT4:4:1404:39419:19987,LH00995:48:23YTGFLT4:4:1404:39436:19987,LH00995:48:23YTGFLT4:4:1473:48723:9646,LH00995:48:23YTGFLT4:4:1497:41555:28422,LH00995:48:23YTGFLT4:4:2105:28838:27581,LH00995:48:23YTGFLT4:4:2207:1024:29291,LH00995:48:23YTGFLT4:4:2228:4519:3368,LH00995:48:23YTGFLT4:4:2345:51158:2850,LH00995:48:23YTGFLT4:4:2391:47202:17520,LH00995:48:23YTGFLT4:4:2395:43820:16736,LH00995:48:23YTGFLT4:4:2437:14858:15251,LH00995:48:23YTGFLT4:4:2453:14413:17619,LH00995:48:23YTGFLT4:5:1237:3920:19875,LH00995:48:23YTGFLT4:5:1418:26047:23167,LH00995:48:23YTGFLT4:5:1431:30609:21430,LH00995:48:23YTGFLT4:5:1442:5263:20155,LH00995:48:23YTGFLT4:5:2119:24696:4349,LH00995:48:23YTGFLT4:5:2156:40649:27525,LH00995:48:23YTGFLT4:5:2385:26767:13429,LH00995:48:23YTGFLT4:5:2442:6639:8104,LH00995:48:23YTGFLT4:6:1226:38724:4685,LH00995:48:23YTGFLT4:6:1447:24801:10697,LH00995:48:23YTGFLT4:6:2109:13904:20547,LH00995:48:23YTGFLT4:6:2124:8402:23686,LH00995:48:23YTGFLT4:6:2128:38780:21038,LH00995:48:23YTGFLT4:6:2160:42955:21150,LH00995:48:23YTGFLT4:6:2238:42752:22313,LH00995:48:23YTGFLT4:6:2304:30383:26867,LH00995:48:23YTGFLT4:6:2449:4867:10556,LH00995:48:23YTGFLT4:6:2466:20837:11061,LH00995:48:23YTGFLT4:7:1250:42186:27974,LH00995:48:23YTGFLT4:7:1481:32931:10374,LH00995:48:23YTGFLT4:7:2187:30140:8483,LH00995:48:23YTGFLT4:7:2201:33522:22243,LH00995:48:23YTGFLT4:7:2210:40965:28128,LH00995:48:23YTGFLT4:7:2361:37502:16638,LH00995:48:23YTGFLT4:8:1158:18588:23868,LH00995:48:23YTGFLT4:8:1496:12941:16526,LH00995:48:23YTGFLT4:7:1393:2772:21892,LH00995:48:23YTGFLT4:7:1393:2780:21878,LH00995:48:23YTGFLT4:7:1393:2788:21864

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2095

270

medium

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(35),low_entropy(1)

GGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCT

VIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq*

LH00995:48:23YTGFLT4:1:2430:29032:29123,LH00995:48:23YTGFLT4:1:2432:10846:3284,LH00995:48:23YTGFLT4:2:1476:34873:23826,LH00995:48:23YTGFLT4:2:2334:20853:4251,LH00995:48:23YTGFLT4:2:2366:31111:18375,LH00995:48:23YTGFLT4:2:2482:37583:11902,LH00995:48:23YTGFLT4:3:1480:23393:2962,LH00995:48:23YTGFLT4:3:2213:31758:8847,LH00995:48:23YTGFLT4:4:1119:48480:8272,LH00995:48:23YTGFLT4:4:1451:11517:4419,LH00995:48:23YTGFLT4:4:2123:41337:26446,LH00995:48:23YTGFLT4:5:1428:42801:25928,LH00995:48:23YTGFLT4:5:2127:16209:2962,LH00995:48:23YTGFLT4:5:2327:22018:18571,LH00995:48:23YTGFLT4:6:1278:27600:27792,LH00995:48:23YTGFLT4:6:1463:17835:6927,LH00995:48:23YTGFLT4:6:2113:5870:29361,LH00995:48:23YTGFLT4:7:1138:22463:22705,LH00995:48:23YTGFLT4:7:1482:34129:1294,LH00995:48:23YTGFLT4:7:2267:25254:21066,LH00995:48:23YTGFLT4:7:2354:51474:22425,LH00995:48:23YTGFLT4:8:1255:8346:18627,LH00995:48:23YTGFLT4:1:1169:17342:17843,LH00995:48:23YTGFLT4:1:1169:17350:17829,LH00995:48:23YTGFLT4:1:1314:32705:4909,LH00995:48:23YTGFLT4:1:1334:22730:1392,LH00995:48:23YTGFLT4:1:2402:48335:20771,LH00995:48:23YTGFLT4:1:2430:42680:15124,LH00995:48:23YTGFLT4:1:2439:6250:3116,LH00995:48:23YTGFLT4:1:2475:2828:2878,LH00995:48:23YTGFLT4:1:2475:2836:2864,LH00995:48:23YTGFLT4:2:1126:39258:11832,LH00995:48:23YTGFLT4:2:1285:12083:14452,LH00995:48:23YTGFLT4:2:1407:36968:17254,LH00995:48:23YTGFLT4:2:2104:24995:2093,LH00995:48:23YTGFLT4:2:2109:29364:20701,LH00995:48:23YTGFLT4:2:2114:36984:14340,LH00995:48:23YTGFLT4:2:2114:36992:14326,LH00995:48:23YTGFLT4:2:2227:32753:10879,LH00995:48:23YTGFLT4:2:2314:39266:15405,LH00995:48:23YTGFLT4:3:1406:25893:8581,LH00995:48:23YTGFLT4:3:2104:51587:6563,LH00995:48:23YTGFLT4:3:2179:35698:2499,LH00995:48:23YTGFLT4:3:2431:19761:3985,LH00995:48:23YTGFLT4:3:2445:20262:8889,LH00995:48:23YTGFLT4:4:1194:28190:1715,LH00995:48:23YTGFLT4:4:2122:32575:6563,LH00995:48:23YTGFLT4:4:2248:27867:9562,LH00995:48:23YTGFLT4:5:1195:25464:9940,LH00995:48:23YTGFLT4:5:2327:24866:2934,LH00995:48:23YTGFLT4:6:1496:11024:17128,LH00995:48:23YTGFLT4:6:2410:5668:7488,LH00995:48:23YTGFLT4:6:2458:47687:18249,LH00995:48:23YTGFLT4:7:1226:48294:28240,LH00995:48:23YTGFLT4:7:1329:1283:19650,LH00995:48:23YTGFLT4:7:1329:1291:19664,LH00995:48:23YTGFLT4:7:1335:26322:22719,LH00995:48:23YTGFLT4:7:1466:34007:1673,LH00995:48:23YTGFLT4:7:2107:16881:10767,LH00995:48:23YTGFLT4:8:1115:44621:18543,LH00995:48:23YTGFLT4:8:1174:20715:9309,LH00995:48:23YTGFLT4:8:1225:2602:16666,LH00995:48:23YTGFLT4:8:1244:48456:9660,LH00995:48:23YTGFLT4:8:1258:17973:16021,LH00995:48:23YTGFLT4:8:1285:2877:19608

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

2095

502

medium

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(14),low_entropy(1)

GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGA

AVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:48:23YTGFLT4:1:2350:50729:12784,LH00995:48:23YTGFLT4:2:1175:6825:8791,LH00995:48:23YTGFLT4:3:1380:17164:19104,LH00995:48:23YTGFLT4:5:1383:3799:17422,LH00995:48:23YTGFLT4:5:1433:10028:6885,LH00995:48:23YTGFLT4:6:2118:36871:1729,LH00995:48:23YTGFLT4:6:2318:20230:10851,LH00995:48:23YTGFLT4:8:1201:1162:4615,LH00995:48:23YTGFLT4:8:1360:40795:27161,LH00995:48:23YTGFLT4:1:1104:12019:5876,LH00995:48:23YTGFLT4:1:1183:21945:2247,LH00995:48:23YTGFLT4:1:2311:13766:6605,LH00995:48:23YTGFLT4:1:2332:47760:7081,LH00995:48:23YTGFLT4:2:1203:20974:4937,LH00995:48:23YTGFLT4:2:2276:10352:19776,LH00995:48:23YTGFLT4:2:2419:51619:14130,LH00995:48:23YTGFLT4:3:1309:31014:9127,LH00995:48:23YTGFLT4:3:2148:16573:1406,LH00995:48:23YTGFLT4:3:2148:16994:7067,LH00995:48:23YTGFLT4:3:2322:4924:23322,LH00995:48:23YTGFLT4:3:2449:11177:19216,LH00995:48:23YTGFLT4:4:1395:18305:17380,LH00995:48:23YTGFLT4:4:1395:50422:23322,LH00995:48:23YTGFLT4:4:2226:48254:18501,LH00995:48:23YTGFLT4:5:1154:21638:9646,LH00995:48:23YTGFLT4:5:1375:12642:15307,LH00995:48:23YTGFLT4:5:1416:19324:10038,LH00995:48:23YTGFLT4:5:2264:2092:28114,LH00995:48:23YTGFLT4:5:2341:34557:23588,LH00995:48:23YTGFLT4:5:2384:5830:6563,LH00995:48:23YTGFLT4:6:1110:6032:13583,LH00995:48:23YTGFLT4:6:1183:14284:13471,LH00995:48:23YTGFLT4:6:2216:42024:25844,LH00995:48:23YTGFLT4:6:2224:42599:14984

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

270

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(4)

GCCGTCCACAAGCCAAGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCT

LH00995:48:23YTGFLT4:1:2262:16945:21892,LH00995:48:23YTGFLT4:2:1229:10870:5344,LH00995:48:23YTGFLT4:2:1229:10878:5358,LH00995:48:23YTGFLT4:2:2441:51287:4951,LH00995:48:23YTGFLT4:3:1391:7059:16960,LH00995:48:23YTGFLT4:4:1280:24534:1462,LH00995:48:23YTGFLT4:4:1498:39031:6227,LH00995:48:23YTGFLT4:5:1442:35795:16428,LH00995:48:23YTGFLT4:5:2329:17835:5078,LH00995:48:23YTGFLT4:6:1488:1299:4349,LH00995:48:23YTGFLT4:6:2344:24065:22229,LH00995:48:23YTGFLT4:6:2364:51975:11159,LH00995:48:23YTGFLT4:8:2144:20028:15124

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15453085

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2095

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(3)

TTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAACCCAGTGAAATGAGCTGCACCAGGAACTTTAAGAGAGAGTTTTCAGCTGGGAGAAGAGGAAGGCAAGATATCAGAACAAGTTAAGC

FAFSALFSFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|epsemsctrnfkrefsagrrgrqdirts*

LH00995:48:23YTGFLT4:1:1133:10020:12588,LH00995:48:23YTGFLT4:1:1133:10028:12602,LH00995:48:23YTGFLT4:1:1133:10037:12588,LH00995:48:23YTGFLT4:2:2228:4810:13541,LH00995:48:23YTGFLT4:6:1118:25019:6927

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15438200

3'UTR/splice-site

CDS/splice-site

deletion/read-through

502

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

CCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCC

LH00995:48:23YTGFLT4:4:2113:10991:11383,LH00995:48:23YTGFLT4:8:1118:21727:6605

TRMT2A

PRODH

-/-

chr22:20112703

chr22:18922933

CDS

CDS/splice-site

deletion

3374

917

high

out-of-frame

Methyltransferase_domain(100%),tRNA_(Uracil-5-)-methyltransferase(96%)|Proline_dehydrogenase(74%)

ENSG00000099899.15

ENSG00000100033.17

ENST00000403707.7

ENST00000610940.4

upstream

downstream

duplicates(34)

GTCTCATGCAACCCCCGGGCAGCCATGGGCAACTTTGTGGA___CCTCTGCAGAGCCCCATCTAACCGGGTGAAGGGCATTCCCTTCCGGCCGGTCAAGGCTGTGGCAGTGGACCTGTTCCCGCAGACCCCGCACT|CTGCAGTTCTCAGAGGTGCTGGCCAAGTGGAGGTGCTTCTTTCACCAAATGGCTGTGGAGCAAGGGCAGGCGGGCCTGGCTGCCATGGACACCAAGCTGGAGGTGGCGGTGCTGCAG___GAAAGTGTCGCAAAGTTGGGCATCGCATCCAGGGCTGAGATTGAGGACTGGTTCACG

VSCNPRAAMGNFVDLCRAPSNRVKGIPFRPVKAVAVDLFPQTPH|savlrgagqvevllspngcgaraggpgchghqaggggaagkcrkvghriqg*

LH00995:48:23YTGFLT4:1:1239:25715:27245,LH00995:48:23YTGFLT4:1:2211:33231:9800,LH00995:48:23YTGFLT4:1:2275:42380:14970,LH00995:48:23YTGFLT4:1:2276:34881:28100,LH00995:48:23YTGFLT4:1:2276:34889:28114,LH00995:48:23YTGFLT4:2:1158:45819:26951,LH00995:48:23YTGFLT4:2:1424:43982:18417,LH00995:48:23YTGFLT4:2:2172:10659:22747,LH00995:48:23YTGFLT4:2:2390:39500:25311,LH00995:48:23YTGFLT4:2:2407:45900:29473,LH00995:48:23YTGFLT4:2:2423:26451:27119,LH00995:48:23YTGFLT4:3:1136:6550:13303,LH00995:48:23YTGFLT4:3:1323:42623:6311,LH00995:48:23YTGFLT4:3:1491:30351:8707,LH00995:48:23YTGFLT4:3:2301:15303:20505,LH00995:48:23YTGFLT4:3:2415:17034:29137,LH00995:48:23YTGFLT4:4:1341:49896:19945,LH00995:48:23YTGFLT4:4:1352:51805:4279,LH00995:48:23YTGFLT4:4:2115:18110:2219,LH00995:48:23YTGFLT4:4:2193:43125:4237,LH00995:48:23YTGFLT4:4:2320:34420:5442,LH00995:48:23YTGFLT4:5:1220:38432:3508,LH00995:48:23YTGFLT4:5:1247:29703:15405,LH00995:48:23YTGFLT4:5:1479:40811:7320,LH00995:48:23YTGFLT4:5:2132:46806:4363,LH00995:48:23YTGFLT4:5:2308:7245:13499,LH00995:48:23YTGFLT4:5:2338:21905:8090,LH00995:48:23YTGFLT4:6:1288:13661:10963,LH00995:48:23YTGFLT4:6:2134:34323:22957,LH00995:48:23YTGFLT4:6:2142:28999:4937,LH00995:48:23YTGFLT4:6:2223:14939:25536,LH00995:48:23YTGFLT4:6:2434:16088:21640,LH00995:48:23YTGFLT4:7:1224:6582:22551,LH00995:48:23YTGFLT4:7:2284:9745:28226,LH00995:48:23YTGFLT4:7:2344:13467:11972,LH00995:48:23YTGFLT4:7:2475:51781:20911,LH00995:48:23YTGFLT4:7:2478:37979:9029,LH00995:48:23YTGFLT4:8:1298:15886:7922,LH00995:48:23YTGFLT4:1:1106:35383:23167,LH00995:48:23YTGFLT4:1:1386:11234:8384,LH00995:48:23YTGFLT4:1:2311:3500:16091,LH00995:48:23YTGFLT4:1:2388:6331:10346,LH00995:48:23YTGFLT4:1:2388:6339:10360,LH00995:48:23YTGFLT4:2:1197:45091:1280,LH00995:48:23YTGFLT4:2:1328:37858:26867,LH00995:48:23YTGFLT4:2:2175:23506:22411,LH00995:48:23YTGFLT4:2:2308:20877:27974,LH00995:48:23YTGFLT4:2:2372:48917:6983,LH00995:48:23YTGFLT4:2:2421:25084:11579,LH00995:48:23YTGFLT4:2:2421:25092:11593,LH00995:48:23YTGFLT4:3:1164:2634:19412,LH00995:48:23YTGFLT4:3:1228:46409:11299,LH00995:48:23YTGFLT4:3:1370:32964:11888,LH00995:48:23YTGFLT4:3:1420:31904:12266,LH00995:48:23YTGFLT4:3:1434:26993:11019,LH00995:48:23YTGFLT4:3:2209:1356:29417,LH00995:48:23YTGFLT4:3:2487:37130:5204,LH00995:48:23YTGFLT4:3:2487:37138:5218,LH00995:48:23YTGFLT4:4:1164:8985:24723,LH00995:48:23YTGFLT4:4:1238:50980:1701,LH00995:48:23YTGFLT4:4:1370:37356:18123,LH00995:48:23YTGFLT4:4:2211:44605:15405,LH00995:48:23YTGFLT4:4:2368:19259:23238,LH00995:48:23YTGFLT4:5:1341:45260:4853,LH00995:48:23YTGFLT4:5:1405:38044:19174,LH00995:48:23YTGFLT4:5:2292:16015:28128,LH00995:48:23YTGFLT4:5:2341:49589:2878,LH00995:48:23YTGFLT4:6:1140:24202:11874,LH00995:48:23YTGFLT4:6:1140:24210:11860,LH00995:48:23YTGFLT4:7:1394:14834:23083,LH00995:48:23YTGFLT4:7:2116:13758:10066,LH00995:48:23YTGFLT4:7:2142:3378:15657,LH00995:48:23YTGFLT4:8:1490:23725:1462,LH00995:48:23YTGFLT4:1:2367:39581:26376,LH00995:48:23YTGFLT4:2:1456:3467:11916,LH00995:48:23YTGFLT4:2:1456:3476:11902,LH00995:48:23YTGFLT4:5:1492:11193:4643,LH00995:48:23YTGFLT4:7:1474:33053:28884,LH00995:48:23YTGFLT4:7:1474:33069:28884,LH00995:48:23YTGFLT4:7:1474:33077:28870,LH00995:48:23YTGFLT4:7:2312:20643:28604

TRMT2A

PRODH

-/-

chr22:20112911

chr22:18922933

CDS/splice-site

deletion

3328

917

medium

out-of-frame

Methyltransferase_domain(100%),tRNA_(Uracil-5-)-methyltransferase(85%)|Proline_dehydrogenase(74%)

ENSG00000099899.15

ENSG00000100033.17

ENST00000403707.7

ENST00000610940.4

upstream

downstream

duplicates(8),mismatches(1)

CTGGTGCCCACCCTGGTGAGCAGACTGGCCTCCCAGCACCTCGTGGCCATCCTGGACCCACCCCGTGCTGGCTTGC___ATTCCAAGGTGATCCTGGCCATCCGGAGAGCTAAGAACCTCAGGCGGCTGCTGTACGTCTCATGCAACCCCCGGGCAGCCATGGGCAACTTTGTGGA|CTGCAGTTCTCAGAGGTGCTGGCCAAGTGGAGGTGCTTCTTTCACCAAATGGCTGTGGAGCAAGGGCAGGCGGGCCTGGCTGCCATGGACACCAAGCTGGAGGTGGCGGTGCTGCAG___GAAAGTGTCGCAAAGTTGGGCATCGCATCCAGGGCTGAGATTGAGGACTGGTTCACGGCAGAGACCCTGGGA

LVPTLVSRLASQHLVAILDPPRAGLHSKVILAIRRAKNLRRLLYVSCNPRAAMGNFVd|cssqrcwpsggasftkwlwskgrrawlpwtpswrwrccrkvsqswashpglrlrtgsrqrpw

LH00995:48:23YTGFLT4:1:1248:45786:2569,LH00995:48:23YTGFLT4:2:2141:5522:26292,LH00995:48:23YTGFLT4:2:2270:16072:28338,LH00995:48:23YTGFLT4:2:2411:5676:22271,LH00995:48:23YTGFLT4:3:1482:21136:14746,LH00995:48:23YTGFLT4:3:2173:2432:24302,LH00995:48:23YTGFLT4:4:1332:39007:27848,LH00995:48:23YTGFLT4:4:1409:21977:19258,LH00995:48:23YTGFLT4:4:2359:1089:19146,LH00995:48:23YTGFLT4:6:2145:31936:20085,LH00995:48:23YTGFLT4:8:1356:3306:27077,LH00995:48:23YTGFLT4:1:1336:43100:10949,LH00995:48:23YTGFLT4:1:1459:51385:16049,LH00995:48:23YTGFLT4:2:2208:14664:24471,LH00995:48:23YTGFLT4:5:1153:46765:14354,LH00995:48:23YTGFLT4:5:1487:44832:4139,LH00995:48:23YTGFLT4:6:1454:42987:25465,LH00995:48:23YTGFLT4:8:1372:3467:22789,LH00995:48:23YTGFLT4:8:1464:1688:13961,LH00995:48:23YTGFLT4:8:1464:1704:13961

TRMT2A

PRODH

-/-

chr22:20112911

chr22:18919798

CDS/splice-site

deletion

3328

1515

medium

out-of-frame

Methyltransferase_domain(100%),tRNA_(Uracil-5-)-methyltransferase(85%)|Proline_dehydrogenase(53%)

ENSG00000099899.15

ENSG00000100033.17

ENST00000403707.7

ENST00000446371.1

upstream

downstream

duplicates(6)

CCTCAGGCGGCTGCTGTACGTCTCATGCAACCCCCGGGCAGCCATGGGCAACTTTGTGGA|ACAGGACAGCTGGAGCCCCTGCTGTCCCGGTTCACTGAGGAGGAGGAGCTACAGATGACCAGGATGCTACAGCGGATGGATGTCCTGGCCAAGGTGAGCTGTCCCGCTCGGGCAGAGGGTAC

LRRLLYVSCNPRAAMGNFVe|qdswspccpgslrrrsyr*

LH00995:48:23YTGFLT4:2:1194:21096:4111,LH00995:48:23YTGFLT4:2:1464:36920:5120,LH00995:48:23YTGFLT4:3:2188:33117:2289,LH00995:48:23YTGFLT4:4:1165:2812:25297,LH00995:48:23YTGFLT4:4:1275:16468:17955,LH00995:48:23YTGFLT4:6:1492:27592:19202,LH00995:48:23YTGFLT4:3:2274:20659:26530,LH00995:48:23YTGFLT4:8:1459:23490:7306

ZMIZ1

DLG5-AS1(10989),H2AZP5(12682)

+/+

./-

chr10:79293653

chr10:77940813

CDS/splice-site

intergenic

inversion

1608

high

out-of-frame

Zmiz1_N-terminal_tetratricopeptide_repeat_domain(100%)|

ENSG00000108175.18

ENST00000334512.10

downstream

duplicates(24),mismappers(4)

GGCGGCTGGCATGACGCCCTCGGGGATGAGCGGCCCTCCCATGGGCATGAACCAGCCCCGGCCGCCCGGCATCAGCCCCTTTGGCACACACGGGCAGCGGATGCCCCAGCAGACCTACCCGGGCCCCCGGCCCCAGTCCCTTCCTATTCAGAACATAAAGAGGCCATACCCTGGAGAG|CCTCCTCAGTTTCACCATAGATTGAAGCCCCACCCTGCAGAGTTGCTGAAAAGGCTCATGTGCTTGCTTTCCTGGGCAGTCAGGAGGGAGGA

AAGMTPSGMSGPPMGMNQPRPPGISPFGTHGQRMPQQTYPGPRPQSLPIQNIKRPYPGE|ppqfhhrlkphpaellkrlmcllswavrre

LH00995:48:23YTGFLT4:1:2403:6906:18768,LH00995:48:23YTGFLT4:2:2319:37963:27918,LH00995:48:23YTGFLT4:4:2138:42761:11313,LH00995:48:23YTGFLT4:6:2258:41458:26572,LH00995:48:23YTGFLT4:6:2258:41474:26572,LH00995:48:23YTGFLT4:6:2258:41490:26572,LH00995:48:23YTGFLT4:6:2310:8710:10346,LH00995:48:23YTGFLT4:8:1226:32583:7025,LH00995:48:23YTGFLT4:1:1475:51304:24569,LH00995:48:23YTGFLT4:1:2131:25003:12420,LH00995:48:23YTGFLT4:1:2138:8467:7488,LH00995:48:23YTGFLT4:1:2161:2108:22285,LH00995:48:23YTGFLT4:1:2196:12989:26082,LH00995:48:23YTGFLT4:1:2282:3767:19608,LH00995:48:23YTGFLT4:2:1112:28652:24344,LH00995:48:23YTGFLT4:2:1392:33756:18361,LH00995:48:23YTGFLT4:2:1490:36912:3957,LH00995:48:23YTGFLT4:2:2309:8135:5288,LH00995:48:23YTGFLT4:2:2410:40981:28156,LH00995:48:23YTGFLT4:3:1370:24412:25718,LH00995:48:23YTGFLT4:3:1370:24421:25704,LH00995:48:23YTGFLT4:3:1370:24429:25718,LH00995:48:23YTGFLT4:3:1370:24437:25704,LH00995:48:23YTGFLT4:3:1466:48108:5890,LH00995:48:23YTGFLT4:3:2119:12884:6255,LH00995:48:23YTGFLT4:3:2155:17326:26502,LH00995:48:23YTGFLT4:3:2205:4956:12700,LH00995:48:23YTGFLT4:3:2234:12965:27637,LH00995:48:23YTGFLT4:3:2260:34574:13331,LH00995:48:23YTGFLT4:4:1202:18725:28814,LH00995:48:23YTGFLT4:4:1210:48100:7446,LH00995:48:23YTGFLT4:4:1253:6056:7460,LH00995:48:23YTGFLT4:4:2152:7059:24134,LH00995:48:23YTGFLT4:4:2328:40770:28772,LH00995:48:23YTGFLT4:4:2357:49540:13779,LH00995:48:23YTGFLT4:4:2383:13507:15517,LH00995:48:23YTGFLT4:4:2411:3095:11860,LH00995:48:23YTGFLT4:5:1261:7868:24274,LH00995:48:23YTGFLT4:5:1342:45252:28464,LH00995:48:23YTGFLT4:5:1349:38400:9393,LH00995:48:23YTGFLT4:5:1349:38408:9407,LH00995:48:23YTGFLT4:5:1418:10530:4251,LH00995:48:23YTGFLT4:5:1482:40042:15236,LH00995:48:23YTGFLT4:5:1489:5967:25774,LH00995:48:23YTGFLT4:5:2104:49977:1392,LH00995:48:23YTGFLT4:5:2168:10053:7235,LH00995:48:23YTGFLT4:5:2168:35342:4125,LH00995:48:23YTGFLT4:5:2182:35528:22131,LH00995:48:23YTGFLT4:5:2197:12981:18137,LH00995:48:23YTGFLT4:5:2349:51101:10318,LH00995:48:23YTGFLT4:6:1174:49556:21710,LH00995:48:23YTGFLT4:6:1393:41547:10640,LH00995:48:23YTGFLT4:6:2154:24089:9435,LH00995:48:23YTGFLT4:6:2170:9462:12574,LH00995:48:23YTGFLT4:6:2320:1591:13121,LH00995:48:23YTGFLT4:6:2350:13968:16203,LH00995:48:23YTGFLT4:6:2350:13976:16189,LH00995:48:23YTGFLT4:7:1107:16711:8735,LH00995:48:23YTGFLT4:7:1408:14923:28534,LH00995:48:23YTGFLT4:7:1453:47784:19650,LH00995:48:23YTGFLT4:7:1454:31977:6171,LH00995:48:23YTGFLT4:7:2318:14057:7614,LH00995:48:23YTGFLT4:7:2318:14073:7614,LH00995:48:23YTGFLT4:7:2325:14462:3746,LH00995:48:23YTGFLT4:7:2389:47259:21094,LH00995:48:23YTGFLT4:7:2455:38635:29613,LH00995:48:23YTGFLT4:8:1233:18280:18179,LH00995:48:23YTGFLT4:8:1233:18296:18179,LH00995:48:23YTGFLT4:8:1272:7715:22299,LH00995:48:23YTGFLT4:8:2136:7343:2597

AC015911.9

SLFN12L

-/-

chr17:35522279

chr17:35480195

exon

CDS/splice-site

deletion/read-through

308

163

high

|Putative_DNA-binding_domain(100%)

ENSG00000286030.2

ENSG00000205045.11

ENST00000650652.2

ENST00000628453.3

upstream

downstream

duplicates(21),mismatches(1)

CCTGGCTTAGGAAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACATTTGTGAAAGTCAGTTTCTGAGGAATTTCATCAG|AAAAGAATTTCTGCGTGGAAATGGCTTAGCTGCTGGGAAAATGAACATCAGTATTGATTTAGACACAAACTATGCTGAGCTGGTTCTAAATGTGGGAAGAGTCACTCTTGGAGAGAACAATAGAAAAAAAATGAAGGATTGTCAACTGAGAAAACAGCAGAATGAAAATGT

LH00995:48:23YTGFLT4:1:1120:35730:26432,LH00995:48:23YTGFLT4:1:1306:35067:28450,LH00995:48:23YTGFLT4:1:1392:10538:24218,LH00995:48:23YTGFLT4:1:2117:23725:12028,LH00995:48:23YTGFLT4:1:2117:23733:12014,LH00995:48:23YTGFLT4:1:2329:43489:1084,LH00995:48:23YTGFLT4:1:2379:47323:26138,LH00995:48:23YTGFLT4:2:2143:20489:17885,LH00995:48:23YTGFLT4:2:2442:28182:17002,LH00995:48:23YTGFLT4:2:2472:6089:25283,LH00995:48:23YTGFLT4:2:2472:6097:25269,LH00995:48:23YTGFLT4:3:2366:34274:10542,LH00995:48:23YTGFLT4:4:1151:25108:11117,LH00995:48:23YTGFLT4:4:1262:32235:6647,LH00995:48:23YTGFLT4:4:1262:32244:6633,LH00995:48:23YTGFLT4:4:1380:21613:3270,LH00995:48:23YTGFLT4:4:2128:19769:4251,LH00995:48:23YTGFLT4:4:2346:23053:28380,LH00995:48:23YTGFLT4:5:1106:6445:17184,LH00995:48:23YTGFLT4:5:1327:37114:4055,LH00995:48:23YTGFLT4:5:1327:37122:4069,LH00995:48:23YTGFLT4:5:1403:51045:20085,LH00995:48:23YTGFLT4:5:1403:51061:20085,LH00995:48:23YTGFLT4:5:2467:6323:18347,LH00995:48:23YTGFLT4:6:1194:7909:7614,LH00995:48:23YTGFLT4:6:1249:35658:19300,LH00995:48:23YTGFLT4:7:2403:9284:3214,LH00995:48:23YTGFLT4:7:2406:47348:28506,LH00995:48:23YTGFLT4:8:1166:5814:1995,LH00995:48:23YTGFLT4:8:1166:6396:5834,LH00995:48:23YTGFLT4:8:1412:39508:21794,LH00995:48:23YTGFLT4:1:2196:12868:3873,LH00995:48:23YTGFLT4:1:2280:13685:24401,LH00995:48:23YTGFLT4:1:2455:14082:7320,LH00995:48:23YTGFLT4:2:2240:33117:20085,LH00995:48:23YTGFLT4:3:1127:42502:14872,LH00995:48:23YTGFLT4:3:2236:29946:15433,LH00995:48:23YTGFLT4:3:2402:30197:15475,LH00995:48:23YTGFLT4:3:2425:47356:18880,LH00995:48:23YTGFLT4:4:1426:24566:22705,LH00995:48:23YTGFLT4:4:2222:31750:4405,LH00995:48:23YTGFLT4:5:1116:50527:11705,LH00995:48:23YTGFLT4:5:1263:35383:20365,LH00995:48:23YTGFLT4:5:1410:34396:7362,LH00995:48:23YTGFLT4:5:2144:24210:20519,LH00995:48:23YTGFLT4:5:2380:47655:4741,LH00995:48:23YTGFLT4:7:1124:29493:5288,LH00995:48:23YTGFLT4:7:2118:35755:20925,LH00995:48:23YTGFLT4:7:2137:46587:10654,LH00995:48:23YTGFLT4:7:2176:51344:24891,LH00995:48:23YTGFLT4:8:1159:33028:13989,LH00995:48:23YTGFLT4:8:1194:44856:15783,LH00995:48:23YTGFLT4:8:1410:6542:20463,LH00995:48:23YTGFLT4:8:1416:42502:5820,LH00995:48:23YTGFLT4:8:2111:46579:12378,LH00995:48:23YTGFLT4:4:2133:19397:1224,LH00995:48:23YTGFLT4:4:2133:19405:1210

CAAP1

LRRC19

-/-

chr9:26884810

chr9:26999703

CDS/splice-site

5'UTR/splice-site

duplication

853

high

out-of-frame

Caspase_activity_and_apoptosis_inhibitor_1(100%)|Leucine-rich_repeat_family_19_TM_domain(100%),Leucine_rich_repeat(100%)

ENSG00000120159.13

ENSG00000184434.8

ENST00000333916.8

ENST00000380055.6

upstream

downstream

duplicates(10),mismappers(2),mismatches(1)

ACTATGCCAGGAACAGTTAGAGCTCCTGTCTGAAAAAAAAATTTTGAAGATTCTTGAGG___GTGACAATGGAATGGACTCTGATATGGAAGAGGAAGCAGATGATGGTTCTAAGATGGGATCTGATTTAGTCAGTCA|GTCTGCAACATGAAAGTCACAGGCATCACAATCCTCTTTTGGCCCCTCTCCATGATATTATTATCAGACAAAATCCAGTCTTCTAAAAGA___GAAGTCCAATGTAATTTTACTGAAAAAAATTATACCTTGATTCCAGC

LCQEQLELLSEKKILKILEGDNGMDSDMEEEADDGSKMGSDLVSq|sat*

LH00995:48:23YTGFLT4:2:2124:36596:1897,LH00995:48:23YTGFLT4:2:2398:48270:14550,LH00995:48:23YTGFLT4:3:1217:47000:5204,LH00995:48:23YTGFLT4:3:2440:46029:1729,LH00995:48:23YTGFLT4:4:1390:23741:8917,LH00995:48:23YTGFLT4:4:1427:36952:16694,LH00995:48:23YTGFLT4:5:1115:50867:19748,LH00995:48:23YTGFLT4:5:2274:38999:11944,LH00995:48:23YTGFLT4:6:1162:23401:7488,LH00995:48:23YTGFLT4:6:1184:11210:5484,LH00995:48:23YTGFLT4:6:1327:29493:15208,LH00995:48:23YTGFLT4:7:1228:43117:22607,LH00995:48:23YTGFLT4:7:1471:19380:9940,LH00995:48:23YTGFLT4:8:1277:2480:28310,LH00995:48:23YTGFLT4:1:1343:16929:17717,LH00995:48:23YTGFLT4:1:2309:7990:19496,LH00995:48:23YTGFLT4:1:2309:8006:19496,LH00995:48:23YTGFLT4:2:1252:34800:6437,LH00995:48:23YTGFLT4:2:1252:34808:6451,LH00995:48:23YTGFLT4:2:1345:41134:22173,LH00995:48:23YTGFLT4:2:1472:48051:14816,LH00995:48:23YTGFLT4:3:1145:31613:20869,LH00995:48:23YTGFLT4:3:1198:44095:1238,LH00995:48:23YTGFLT4:3:1389:50050:15335,LH00995:48:23YTGFLT4:4:1277:23571:3382,LH00995:48:23YTGFLT4:4:1453:46555:16540,LH00995:48:23YTGFLT4:4:2458:24590:13555,LH00995:48:23YTGFLT4:4:2478:7359:28268,LH00995:48:23YTGFLT4:4:2478:7367:28282,LH00995:48:23YTGFLT4:5:1162:42987:19104,LH00995:48:23YTGFLT4:5:1461:5150:10711,LH00995:48:23YTGFLT4:5:2272:8977:27231,LH00995:48:23YTGFLT4:6:1310:10627:29249,LH00995:48:23YTGFLT4:7:1227:49216:27595,LH00995:48:23YTGFLT4:7:1290:43392:27763,LH00995:48:23YTGFLT4:7:2165:22220:4433,LH00995:48:23YTGFLT4:8:1253:16832:28394,LH00995:48:23YTGFLT4:8:2121:51579:16105

CAAP1

LRRC19

-/-

chr9:26884810

chr9:26998241

CDS/splice-site

duplication

853

low

out-of-frame

Caspase_activity_and_apoptosis_inhibitor_1(100%)|Leucine-rich_repeat_family_19_TM_domain(100%),Leucine_rich_repeat(100%)

ENSG00000120159.13

ENSG00000184434.8

ENST00000333916.8

ENST00000380055.6

upstream

downstream

TTTCTATATATCAGACAAAAAAGAAATGCTTCAGCAGTGCTTCTGTATTATAGGAGAGAAAAAGTTACAGAAGATGCTTCCTGATGTGTTAAAG___AACTGTTCAATAGAAGAAATTAAAAAACTATGCCAGGAACAGTTAGAGCTCCTGTCT...GGTGACAATGGAATGGACTCTGATATGGAAGAGGAAGCAGATGATGGTTCTAAGATGGGATCTGATTTAGTCAGTCA|GAAGTCCAATGTAATTTTACTGAAAAAAATTATACCTTGATTCCAGCAGATATCAAGAAAGATGTTACTATACTTGATCTCAGTTATAACCAAATTACTCTTAATGGTACAGACACAAGAGTTCTACAGACATACT

GDNGMDSDMEEEADDGSKMGSDLVSq|ksnvillkkiip*

LH00995:48:23YTGFLT4:3:2180:41596:13499,LH00995:48:23YTGFLT4:3:2197:24963:11565

CCDC169

SOHLH2

-/-

chr13:36248606

chr13:36202093

CDS/splice-site

deletion/read-through

high

out-of-frame

Domain_of_unknown_function_(DUF4600)(100%)|Helix-loop-helix_DNA-binding_domain(100%)

ENSG00000242715.8

ENSG00000120669.16

ENST00000379864.6

ENST00000379881.8

upstream

downstream

duplicates(8),mismappers(2)

GCCGTACATACCTAGCTGAAATGTCTCAG___GGTTCTGGTTTACATCAAGTTTCTAAAAGGCAACAGGTGGATCAACTGCCTAGGATGCAAGAGAATCTAGTGAAAAC|GCAAAAATAGACATCTTATTAGTTGGAGATGTCACTGTGGGCTACCTGGCTGATACTGTACAGAAACTATTTGCAAACATAGCAGAAGTCACCATCACCATCAGTGACACGAAGGAGGCAGCAGCGCTTTTGGATGATTGCATATTCAACA

RTYLAEMSQGSGLHQVSKRQQVDQLPRMQENLVKt|qk*

LH00995:48:23YTGFLT4:1:1128:46765:19847,LH00995:48:23YTGFLT4:1:2414:19429:5484,LH00995:48:23YTGFLT4:1:2492:14551:8188,LH00995:48:23YTGFLT4:2:1277:26071:3480,LH00995:48:23YTGFLT4:2:1457:15764:21668,LH00995:48:23YTGFLT4:2:2344:34711:7936,LH00995:48:23YTGFLT4:3:1470:40512:19076,LH00995:48:23YTGFLT4:3:2174:51716:2527,LH00995:48:23YTGFLT4:4:1304:22455:6605,LH00995:48:23YTGFLT4:4:2146:44516:16119,LH00995:48:23YTGFLT4:5:2242:26443:24555,LH00995:48:23YTGFLT4:5:2423:13515:19622,LH00995:48:23YTGFLT4:6:1257:7068:20645,LH00995:48:23YTGFLT4:7:1231:21460:27049,LH00995:48:23YTGFLT4:8:1480:13564:10430,LH00995:48:23YTGFLT4:8:1491:13451:6030,LH00995:48:23YTGFLT4:1:1251:28846:13163,LH00995:48:23YTGFLT4:1:2173:24137:25381,LH00995:48:23YTGFLT4:2:2445:42008:9337,LH00995:48:23YTGFLT4:3:1267:25634:29179,LH00995:48:23YTGFLT4:4:1253:10392:8300,LH00995:48:23YTGFLT4:4:1253:10409:8300,LH00995:48:23YTGFLT4:5:1120:30399:26250,LH00995:48:23YTGFLT4:5:1196:24534:3760,LH00995:48:23YTGFLT4:5:2312:37316:24751,LH00995:48:23YTGFLT4:6:1280:42421:7278,LH00995:48:23YTGFLT4:6:1280:42429:7292,LH00995:48:23YTGFLT4:6:2447:32122:22873,LH00995:48:23YTGFLT4:7:1136:42680:1280,LH00995:48:23YTGFLT4:7:1137:18248:15909,LH00995:48:23YTGFLT4:8:1329:29687:25998

B3GNTL1

AC139099.2

-/-

+/-

chr17:83005115

chr17:83200797

CDS/splice-site

intron

duplication/5'-5'

1698

high

out-of-frame

Glycosyl_transferase_family_2(86%)|

ENSG00000175711.8

ENSG00000262898.3

ENST00000320865.3

upstream

downstream

duplicates(9)

CACGAGGCTGCCGTTCAGCACCCGTCGAGC___ATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAG|AAATAGAAACCTGAGGTCAGGAAGTGCTGAGGGTCCTTGGGTTTGGTGTCGGGGAAGACACCGTGCTGACTCGAACCCACTAGGCCTGGAGCCCAAAAGTCCCTTCTCTGT

HEAAVQHPSSIIGCRVRRDPPNSTERYTRWINQLTPEQLLTQ|k*

LH00995:48:23YTGFLT4:1:1215:29444:3214,LH00995:48:23YTGFLT4:2:2145:42421:15573,LH00995:48:23YTGFLT4:3:1378:8807:6899,LH00995:48:23YTGFLT4:3:2306:8977:2401,LH00995:48:23YTGFLT4:3:2414:44006:2709,LH00995:48:23YTGFLT4:4:2173:39735:16414,LH00995:48:23YTGFLT4:5:1392:20303:3466,LH00995:48:23YTGFLT4:5:2483:5288:18852,LH00995:48:23YTGFLT4:6:2427:3597:8777,LH00995:48:23YTGFLT4:7:1259:10692:6745,LH00995:48:23YTGFLT4:7:1259:10700:6731,LH00995:48:23YTGFLT4:7:1448:17576:21528,LH00995:48:23YTGFLT4:7:2101:8993:13639,LH00995:48:23YTGFLT4:7:2306:2513:14466,LH00995:48:23YTGFLT4:7:2468:3289:4797,LH00995:48:23YTGFLT4:3:1303:26144:26895,LH00995:48:23YTGFLT4:3:2140:11153:3620,LH00995:48:23YTGFLT4:4:1305:6275:7838,LH00995:48:23YTGFLT4:4:2212:29226:21360,LH00995:48:23YTGFLT4:5:1223:39549:16371,LH00995:48:23YTGFLT4:5:1364:5894:26208,LH00995:48:23YTGFLT4:5:1390:13167:15937,LH00995:48:23YTGFLT4:5:2267:17309:7025,LH00995:48:23YTGFLT4:5:2369:27616:1280,LH00995:48:23YTGFLT4:5:2471:28522:14900

AC019197.1

KCNH7(46815),RPL7P61(266669)

+/+

./+

chr2:165091299

chr2:162885582

exon/splice-site

intergenic

duplication

440

high

ENSG00000236283.5

ENST00000638199.1

downstream

upstream

duplicates(3)

GACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTGGCAAGACGGATCACTCGGAACAAG|GAAACTGAAAGAGGAAATGCTGGTCTGAATTCAAGAGAGAGATCAATTCTGGAAGAAAGTCTCCTCATGTCCCAGGAGAATGAGC

LH00995:48:23YTGFLT4:5:2392:40803:7754,LH00995:48:23YTGFLT4:7:2249:40309:13681,LH00995:48:23YTGFLT4:2:2150:26702:1546,LH00995:48:23YTGFLT4:3:1304:46628:5848,LH00995:48:23YTGFLT4:4:1267:20602:6759,LH00995:48:23YTGFLT4:4:1316:16015:26783,LH00995:48:23YTGFLT4:4:2334:21816:5386,LH00995:48:23YTGFLT4:5:1389:5328:27161,LH00995:48:23YTGFLT4:5:1393:5150:1434,LH00995:48:23YTGFLT4:5:2298:28004:13359,LH00995:48:23YTGFLT4:6:1102:6525:27693,LH00995:48:23YTGFLT4:6:1325:28668:16329,LH00995:48:23YTGFLT4:7:1425:28474:24120,LH00995:48:23YTGFLT4:7:2447:16355:12658,LH00995:48:23YTGFLT4:8:1144:25213:1322

CEMIP2

TMC1

-/-

+/-

chr9:71740063

chr9:72608340

CDS/splice-site

intron

duplication/5'-5'

1013

high

out-of-frame

G8_domain(100%),Interleukin-like_EMT_inducer(51%)|

ENSG00000135048.14

ENSG00000165091.18

ENST00000377044.9

upstream

downstream

duplicates(5)

AGTGAACTGATCCAAGGACTGGGCTACAG___GCAAGCTTGGGCTTTAGTTGGTGTCATTGATGGTGGAAGCACTTCTTGCAATGAATCCGTGAGAAACTATGAAAATCATAGCAGTGGCGGGAAGGCTCTTGCCCAAAGAGAATTTTATACTGTGGATGGCCAGAAGTTCTCTGTGACAGCTTATAGTGAATGGATTGAAG|GTGTGGTATCAGCGTTATCAGTGTGCCTGGATCCAAGCAGCCGTTTCATATCCTGGACATGATAATTTGTTGAAGAATACGAACATGAGTGAACTCAGGCCG

SELIQGLGYRQAWALVGVIDGGSTSCNESVRNYENHSSGGKALAQREFYTVDGQKFSVTAYSEWIE|gvvsalsvcldpssrfiswt*

LH00995:48:23YTGFLT4:1:1494:26775:17703,LH00995:48:23YTGFLT4:1:2406:8548:24751,LH00995:48:23YTGFLT4:1:2472:35342:13373,LH00995:48:23YTGFLT4:2:1367:18151:28464,LH00995:48:23YTGFLT4:2:1451:22163:6493,LH00995:48:23YTGFLT4:2:2128:39274:19398,LH00995:48:23YTGFLT4:3:2179:29097:1434,LH00995:48:23YTGFLT4:5:1317:15392:18529,LH00995:48:23YTGFLT4:6:1256:3111:16568,LH00995:48:23YTGFLT4:6:2357:11153:22957,LH00995:48:23YTGFLT4:6:2375:41733:25255,LH00995:48:23YTGFLT4:7:2323:33570:25465,LH00995:48:23YTGFLT4:7:2351:21840:18291,LH00995:48:23YTGFLT4:8:1457:39274:6675,LH00995:48:23YTGFLT4:7:1118:13580:21108,LH00995:48:23YTGFLT4:2:1415:27163:13751

SCLT1

LINC02173

-/-

+/+

chr4:129082306

chr4:106434612

CDS/splice-site

exon/splice-site

inversion

490

high

out-of-frame

ENSG00000151466.12

ENSG00000249613.2

ENST00000651532.1

ENST00000667859.1

upstream

duplicates(5)

TTTTGTTTTCCCGCACAGCAAGCTCTCTGTCTTTCAGAGGAAGGTAAAGGTGGTGAAAGCTCTAAACTAAAATTGTATCGAAATGGCTGCAGAAATCGACTTTCTGAGAGAGCAAA___ATCGAAGACTAAATGAAGATTTTAGGCGGTATCAAATGGAAAGTTTTTCCAAATATTCATCTGTACAG|CTGTCGTGTCATGAGAGAGCCACAATTCTTCAAACATATTTAACTGCTGGAGAGAATGGCTCAGAATCCCAGGTATCAGCTTCAGCACAC___GTTAACCTGTCTCTAGAGACCTTGGCACTTTGCTTAACTTCGGCTGCTGTTGGAGGAGACCGACTCCTCATGAGCATCTGGGAAGTTCCATTGTCTCAACTGTCAC

MAAEIDFLREQNRRLNEDFRRYQMESFSKYSSVQ|lscheratilqtyltagengsesqvsasahvnlsletlalcltsaavggdrllmsiwevplsqls

LH00995:48:23YTGFLT4:1:1340:7173:10066,LH00995:48:23YTGFLT4:1:1409:28781:8959,LH00995:48:23YTGFLT4:1:2355:43084:19300,LH00995:48:23YTGFLT4:1:2355:50551:26825,LH00995:48:23YTGFLT4:2:1275:41927:1883,LH00995:48:23YTGFLT4:2:1491:3637:17030,LH00995:48:23YTGFLT4:2:2107:9357:1490,LH00995:48:23YTGFLT4:2:2373:8605:9463,LH00995:48:23YTGFLT4:4:1205:48731:7221,LH00995:48:23YTGFLT4:5:2169:13378:14648,LH00995:48:23YTGFLT4:6:2201:9155:20561,LH00995:48:23YTGFLT4:8:1275:30440:8076,LH00995:48:23YTGFLT4:8:1344:4293:19790,LH00995:48:23YTGFLT4:3:2342:49459:23420,LH00995:48:23YTGFLT4:3:2342:49475:23420

FRAS1

TBCK

+/+

-/-

chr4:78066016

chr4:106308989

CDS/splice-site

5'UTR/splice-site

inversion

244

540

high

out-of-frame

von_Willebrand_factor_type_C_domain(3%)|Protein_kinase_domain(100%),Rab-GTPase-TBC_domain(100%),Rhodanese-like_domain(100%)

ENSG00000138759.19

ENSG00000145348.17

ENST00000512123.4

ENST00000273980.10

downstream

duplicates(1)

TCCTCCATCGTGGGTGCCGAGGCGGCGATGGGTGTCCTCAAAGTGTGGCTCGGGCTGGCCCTAGCGTTGGCGGAATTTGCAGTATTGCCTCATCATTCCGAAG___GTGCTTGTGTCTATCAGGATTCCTTGTTGGCG|ATTATCTTAGAAGACCTAGGACTCCAAAAATGTTTCCCCTGAAGGACGCTGAAATGGGAGCCTTTACCTTCTTTGCCTCGGCTCTGCCACATGATGTTTGTGGAAGCAATGGACTTCCTCTCACACCA

MGVLKVWLGLALALAEFAVLPHHSEGACVYQDSLLA|iiledlglqkcfp*

LH00995:48:23YTGFLT4:1:1217:25432:24709,LH00995:48:23YTGFLT4:1:2179:6396:23013,LH00995:48:23YTGFLT4:2:1344:23741:24947,LH00995:48:23YTGFLT4:3:2290:28813:10949,LH00995:48:23YTGFLT4:4:1418:27673:2219,LH00995:48:23YTGFLT4:6:1229:23814:23364,LH00995:48:23YTGFLT4:7:1141:13693:13345,LH00995:48:23YTGFLT4:2:1187:35196:13541,LH00995:48:23YTGFLT4:4:1428:12868:25956,LH00995:48:23YTGFLT4:8:2126:6477:16904

GALNT17

AUTS2

+/+

chr7:71133040

chr7:70118132

CDS/splice-site

duplication

134

1209

high

out-of-frame

|Autism_susceptibility_gene_2_protein(100%)

ENSG00000185274.12

ENSG00000158321.18

ENST00000333538.10

ENST00000342771.10

downstream

upstream

duplicates(13)

CGTGCTCTTCCTGGCCAAGTGCCGGCCCATCGCGGTGCGCAGCGGAGACGCCTTCCACGAGATCCGGCCGCGCGCCGAGGTGGCCAACCTCAGCGCGCACAGCGCCAGCCCCATCCAGGATGCGGTCCTGAAGCGCCTGTCGCTGCTGGAGGACATCGTGTACCGGCAGCTGAATG|CTCAAGCCAGGACAGAACAGCTGCAGGGACAGTGACAGTGAAAGTGCCAGTGGAGAATCCAAGGGCTTCCACCGGAGCAGCTCTCGGGAAAGGCTCAGTGAT

VLFLAKCRPIAVRSGDAFHEIRPRAEVANLSAHSASPIQDAVLKRLSLLEDIVYRQLN|aqarteqlqgq*

LH00995:48:23YTGFLT4:1:1487:2205:3704,LH00995:48:23YTGFLT4:1:2386:42429:8637,LH00995:48:23YTGFLT4:2:2481:22705:6395,LH00995:48:23YTGFLT4:2:2481:22714:6409,LH00995:48:23YTGFLT4:3:2362:33959:13107,LH00995:48:23YTGFLT4:5:1305:16840:26586,LH00995:48:23YTGFLT4:8:1226:14696:26460,LH00995:48:23YTGFLT4:1:2191:34654:7306,LH00995:48:23YTGFLT4:1:2493:17965:21528,LH00995:48:23YTGFLT4:2:1342:28482:18333,LH00995:48:23YTGFLT4:2:1342:28490:18319,LH00995:48:23YTGFLT4:3:1179:22738:14242,LH00995:48:23YTGFLT4:3:2117:50025:23167,LH00995:48:23YTGFLT4:3:2117:50033:23181,LH00995:48:23YTGFLT4:3:2355:8783:23560,LH00995:48:23YTGFLT4:3:2420:38254:27525,LH00995:48:23YTGFLT4:3:2436:21241:17871,LH00995:48:23YTGFLT4:4:2435:26928:15559,LH00995:48:23YTGFLT4:6:2121:5571:1827,LH00995:48:23YTGFLT4:7:1170:15602:15811,LH00995:48:23YTGFLT4:7:2358:27535:19300

DIS3L

PARP16

+/+

-/+

chr15:66315215

chr15:65300333

CDS/splice-site

exon

duplication/5'-5'

746

high

out-of-frame

Rrp44-like_cold_shock_domain(100%)|

ENSG00000166938.13

ENSG00000138617.16

ENST00000319194.9

downstream

upstream

duplicates(3)

GATTAAATCTGGACGCTATATCCAG___GGAATTCTGAATGTCAACAAACACAGAGCCCAAATAGAAGCTTTTGTTCGACTTCAAGGAGCCAGCAGTAAAGATTCAG___ATTTAGTCAGTGACATCCTAATCCACGGGATGAAGGCTCGAAACCGC...GTTGTGGAGCTGCTTCCTAAAAATGAATGGAAAGGAAGAACCGTAGCCCTGTGTGAGAATGACTGTGACGACAAGGCTTCGGGCGAGTCCCCAAGTGAGCCCATGCCTACAG|ATGtATTCGGAGTTTCTTCCTTCTGGTGGGTTCGTGGTCTTGCTGGCTCAGGAATGAAACTACAGACCTTCACGGTG

VVELLPKNEWKGRTVALCENDCDDKASGESPSEPMPT|dvfgvssfwwvrglagsgmklqtft

LH00995:48:23YTGFLT4:1:1481:13256:24302,LH00995:48:23YTGFLT4:2:2379:46514:20925,LH00995:48:23YTGFLT4:4:2124:37526:12000,LH00995:48:23YTGFLT4:1:1304:43351:4685,LH00995:48:23YTGFLT4:4:1165:25820:2625,LH00995:48:23YTGFLT4:4:1270:31944:23854,LH00995:48:23YTGFLT4:4:1270:31952:23868,LH00995:48:23YTGFLT4:6:1296:32737:26572,LH00995:48:23YTGFLT4:6:2102:38319:20211

TRHDE

AC079905.1(164760),AC080011.1(115528)

+/+

./-

chr12:72286954

chr12:59977336

CDS/splice-site

intergenic

inversion

115

high

out-of-frame

Peptidase_M1_N-terminal_domain(100%)|

ENSG00000072657.9

ENST00000261180.9

downstream

duplicates(1)

TTCCGTGTTTGAGGAAGATGGATGGGTTACGGATCACTTTTCACAGACCCCT?TCATGTCCACATATTATTTAGCCTGGGCAATTTGCAACTTCACATACAGAGAAACTACCACCAAGAGTGGGGTTGTA|TTTCACGGGATCTTCTGGTCAGTGATTGCCCTCCTTGTACCGTGCCCTGCCATCCTTTCTCTGTGACACTGACATACCAACTG

SVFEEDGWVTDHFSQTP?MSTYYLAWAICNFTYRETTTKSGVV|fhgifwsviallvpcpailsl*

LH00995:48:23YTGFLT4:4:2441:34379:20533,LH00995:48:23YTGFLT4:5:1354:48901:28422,LH00995:48:23YTGFLT4:7:1183:25610:18235,LH00995:48:23YTGFLT4:8:2135:10562:13191

NIPAL1

AC090371.2

+/+

+/-

chr4:48016885

chr18:32861910

CDS/splice-site

intron

translocation/5'-5'

high

out-of-frame

ENSG00000163293.12

ENSG00000263765.5

ENST00000295461.10

downstream

duplicates(1),mismappers(1)

GGCCCAGGTGAGGAGCAAGCGCCCGCGTTCCGGAAGCCCGCTCCCGGGGCCATGGGGGCACAGGTGAGGCTGCCGCCCGGAGAGCCCTGCCGAGAAG|GGTATTCCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAAcCAGAAAGGACATCtACACCGAAAACCCATCTgTACATCACCATCATCAAAGACCAAAA

MGAQVRLPPGEPCRE|gysnrpaaegpvc*

LH00995:48:23YTGFLT4:2:1247:20974:22789,LH00995:48:23YTGFLT4:8:1198:11315:23490,LH00995:48:23YTGFLT4:1:1358:2958:5596,LH00995:48:23YTGFLT4:3:1470:40617:12448,LH00995:48:23YTGFLT4:6:2483:23474:17282

CDH4

ZBTB46

+/+

-/-

chr20:61773182

chr20:63790790

CDS/splice-site

5'UTR/splice-site

inversion

high

out-of-frame

Cadherin_domain(4%),Cadherin_prodomain_like(100%)|BTB/POZ_domain(100%),C2H2-type_zinc-finger_domain(100%)

ENSG00000179242.16

ENSG00000130584.12

ENST00000614565.5

ENST00000245663.9

downstream

duplicates(4)

AGAAGGTCGTGGCTCTGGACCCCTCTCCGCCTCCGAAGGACACCCTGCTGCCGTGGCCCCAGCACCAGAACGCCAACGGGCTGAGGCGGCGCAAACGGGACTGGGTCATCCCGCCCATCAACGTGCCCGAGAACTCGCGCGGGCCCTTCCCGCAGCAGCTCGTGAGG|AGTCTGTAGAAGAGGCGACACCAGGGCTTCCAAATGAACAACCGAAAGGAAGATATGGAAATCACGTCCCACTACCGGCACCTGCTGCGGGAGCTCAACGAGCAGAGGCAGCACGGCGTCCTGTGCGACGTCTGCGTGGTCGTGGAGGGCAAGGTCTTCAAGGCGCACAAGAACGTCCTGCTGGGCAGCAGCCGCTACTTCAAGACGC

KVVALDPSPPPKDTLLPWPQHQNANGLRRRKRDWVIPPINVPENSRGPFPQQLVR|sl*

LH00995:48:23YTGFLT4:4:1483:25561:10472,LH00995:48:23YTGFLT4:2:1374:31896:24555,LH00995:48:23YTGFLT4:2:1374:31904:24569,LH00995:48:23YTGFLT4:7:1106:50689:27651,LH00995:48:23YTGFLT4:7:1380:37721:9281,LH00995:48:23YTGFLT4:2:2108:49030:27133,LH00995:48:23YTGFLT4:3:2103:7618:27147

KMT2D

-/-

chr12:49026730

chr12:49026807

CDS

duplication/ITD

177

206

5181

4062

medium

in-frame

PHD-finger(100%),PHD-like_zinc-binding_domain(100%),PHD-zinc-finger_like_domain(49%)|F/Y-rich_N-terminus(100%),F/Y_rich_C-terminus(100%),PHD-zinc-finger_like_domain(76%),SET_domain(100%)

ENSG00000167548.16

ENST00000301067.12

upstream

downstream

duplicates(352),low_entropy(1)

GTCATGAGGAGGGTGACGGGGCCACTGATGGGCCTGCCCGTCTGCTGAACCTGGACCTGGACCTGTGGGTGCACCTCAACTGTGCCCTTTGGTCCACGGAGGTGTATGAGACCCAGGGCGGGGCACTGATGAA|CCTGGACCTGTGGGTGCACCTCAACTGTGCCCTTTGGTCCACGGAGGTGTATGAGACCCAGGGCGGGGCACTGATGAATGTGGAGGTTGCCCTGCACCGAGGACTGCTAACCAAGTGCTCCCTGTGCCAGCGAACTGGTGCCA

HEEGDGATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMn|LDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGA

LH00995:48:23YTGFLT4:1:1123:26864:8721,LH00995:48:23YTGFLT4:1:1123:26864:8721,LH00995:48:23YTGFLT4:1:1129:48092:12140,LH00995:48:23YTGFLT4:1:1156:35164:19286,LH00995:48:23YTGFLT4:1:1182:34533:27469,LH00995:48:23YTGFLT4:1:1182:34533:27469,LH00995:48:23YTGFLT4:1:1218:44290:24639,LH00995:48:23YTGFLT4:1:1247:26136:26853,LH00995:48:23YTGFLT4:1:1247:26136:26853,LH00995:48:23YTGFLT4:1:1269:2756:2023,LH00995:48:23YTGFLT4:1:1306:28749:2345,LH00995:48:23YTGFLT4:1:1371:45018:27806,LH00995:48:23YTGFLT4:1:1382:6736:18165,LH00995:48:23YTGFLT4:1:1428:10926:27497,LH00995:48:23YTGFLT4:1:1455:4535:4069,LH00995:48:23YTGFLT4:1:1475:4495:25381,LH00995:48:23YTGFLT4:1:1485:20570:2639,LH00995:48:23YTGFLT4:1:1495:42291:9323,LH00995:48:23YTGFLT4:1:2106:2804:14242,LH00995:48:23YTGFLT4:1:2112:17107:18305,LH00995:48:23YTGFLT4:1:2154:16047:25045,LH00995:48:23YTGFLT4:1:2154:16047:25045,LH00995:48:23YTGFLT4:1:2158:33368:22845,LH00995:48:23YTGFLT4:1:2170:22188:22453,LH00995:48:23YTGFLT4:1:2186:26969:8398,LH00995:48:23YTGFLT4:1:2186:26969:8398,LH00995:48:23YTGFLT4:1:2209:22010:22817,LH00995:48:23YTGFLT4:1:2228:19583:20071,LH00995:48:23YTGFLT4:1:2234:22989:2569,LH00995:48:23YTGFLT4:1:2237:16201:6423,LH00995:48:23YTGFLT4:1:2255:16565:15405,LH00995:48:23YTGFLT4:1:2262:8799:16301,LH00995:48:23YTGFLT4:1:2268:20821:2878,LH00995:48:23YTGFLT4:1:2268:20821:2878,LH00995:48:23YTGFLT4:1:2357:1461:12336,LH00995:48:23YTGFLT4:1:2357:1461:12336,LH00995:48:23YTGFLT4:1:2373:28336:13485,LH00995:48:23YTGFLT4:1:2424:46757:21710,LH00995:48:23YTGFLT4:1:2442:28546:4041,LH00995:48:23YTGFLT4:1:2446:15635:8637,LH00995:48:23YTGFLT4:1:2448:34371:8076,LH00995:48:23YTGFLT4:1:2452:41515:18543,LH00995:48:23YTGFLT4:1:2452:41515:18543,LH00995:48:23YTGFLT4:1:2458:2925:22439,LH00995:48:23YTGFLT4:1:2458:35358:22004,LH00995:48:23YTGFLT4:1:2459:43909:6997,LH00995:48:23YTGFLT4:1:2498:13790:29151,LH00995:48:23YTGFLT4:2:1157:15255:27427,LH00995:48:23YTGFLT4:2:1161:39112:7235,LH00995:48:23YTGFLT4:2:1164:41264:28226,LH00995:48:23YTGFLT4:2:1203:24396:6044,LH00995:48:23YTGFLT4:2:1214:36936:11117,LH00995:48:23YTGFLT4:2:1221:39678:14690,LH00995:48:23YTGFLT4:2:1225:25456:6871,LH00995:48:23YTGFLT4:2:1278:47153:21724,LH00995:48:23YTGFLT4:2:1278:47162:21710,LH00995:48:23YTGFLT4:2:1283:20432:4643,LH00995:48:23YTGFLT4:2:1291:38983:1462,LH00995:48:23YTGFLT4:2:1305:31515:15573,LH00995:48:23YTGFLT4:2:1315:11833:17745,LH00995:48:23YTGFLT4:2:1343:32705:6479,LH00995:48:23YTGFLT4:2:1343:32721:6479,LH00995:48:23YTGFLT4:2:1438:10530:22915,LH00995:48:23YTGFLT4:2:1438:10530:22915,LH00995:48:23YTGFLT4:2:1458:23822:25704,LH00995:48:23YTGFLT4:2:1458:23822:25704,LH00995:48:23YTGFLT4:2:1467:14171:19132,LH00995:48:23YTGFLT4:2:1467:14171:19132,LH00995:48:23YTGFLT4:2:2155:44209:17577,LH00995:48:23YTGFLT4:2:2169:18814:27427,LH00995:48:23YTGFLT4:2:2181:7156:16652,LH00995:48:23YTGFLT4:2:2241:12504:2569,LH00995:48:23YTGFLT4:2:2286:13604:8511,LH00995:48:23YTGFLT4:2:2286:13604:8511,LH00995:48:23YTGFLT4:2:2289:31782:4545,LH00995:48:23YTGFLT4:2:2395:45527:23252,LH00995:48:23YTGFLT4:2:2422:1146:2541,LH00995:48:23YTGFLT4:2:2422:1146:2541,LH00995:48:23YTGFLT4:2:2422:1154:2555,LH00995:48:23YTGFLT4:2:2422:1154:2555,LH00995:48:23YTGFLT4:2:2439:19599:10739,LH00995:48:23YTGFLT4:2:2474:36992:26012,LH00995:48:23YTGFLT4:2:2491:41628:10809,LH00995:48:23YTGFLT4:3:1122:49030:27469,LH00995:48:23YTGFLT4:3:1134:25327:6843,LH00995:48:23YTGFLT4:3:1151:39209:11775,LH00995:48:23YTGFLT4:3:1177:21460:17689,LH00995:48:23YTGFLT4:3:1230:15910:25844,LH00995:48:23YTGFLT4:3:1239:4584:22341,LH00995:48:23YTGFLT4:3:1305:38465:5610,LH00995:48:23YTGFLT4:3:1335:42623:26460,LH00995:48:23YTGFLT4:3:1360:31685:19566,LH00995:48:23YTGFLT4:3:1360:31685:19566,LH00995:48:23YTGFLT4:3:1422:6008:25143,LH00995:48:23YTGFLT4:3:1424:13167:2625,LH00995:48:23YTGFLT4:3:1428:12803:20015,LH00995:48:23YTGFLT4:3:1436:35269:9912,LH00995:48:23YTGFLT4:3:1437:46013:20225,LH00995:48:23YTGFLT4:3:1437:46013:20225,LH00995:48:23YTGFLT4:3:1463:23854:12896,LH00995:48:23YTGFLT4:3:1464:6849:19146,LH00995:48:23YTGFLT4:3:1466:43424:14228,LH00995:48:23YTGFLT4:3:1466:43424:14228,LH00995:48:23YTGFLT4:3:1488:37777:20197,LH00995:48:23YTGFLT4:3:1488:37785:20183,LH00995:48:23YTGFLT4:3:2120:21937:14087,LH00995:48:23YTGFLT4:3:2127:42477:11131,LH00995:48:23YTGFLT4:3:2190:45050:22789,LH00995:48:23YTGFLT4:3:2216:11460:10150,LH00995:48:23YTGFLT4:3:2270:48149:12686,LH00995:48:23YTGFLT4:3:2270:48149:12686,LH00995:48:23YTGFLT4:3:2285:49208:24723,LH00995:48:23YTGFLT4:3:2352:32090:10234,LH00995:48:23YTGFLT4:3:2360:49111:24667,LH00995:48:23YTGFLT4:3:2389:50195:22285,LH00995:48:23YTGFLT4:3:2392:26071:26292,LH00995:48:23YTGFLT4:3:2437:45374:9870,LH00995:48:23YTGFLT4:3:2437:45374:9870,LH00995:48:23YTGFLT4:3:2445:51991:18109,LH00995:48:23YTGFLT4:3:2478:43545:1546,LH00995:48:23YTGFLT4:3:2491:49184:23616,LH00995:48:23YTGFLT4:4:1160:20036:24947,LH00995:48:23YTGFLT4:4:1167:45657:24989,LH00995:48:23YTGFLT4:4:1167:45657:24989,LH00995:48:23YTGFLT4:4:1169:2003:3410,LH00995:48:23YTGFLT4:4:1172:1267:5078,LH00995:48:23YTGFLT4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ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

187

1682

1817

medium

in-frame

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

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(165),mismappers(48)

TCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGTGC

RSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPV

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LATS2

-/-

chr13:20988344

chr13:20988349

CDS

duplication/ITD

1281

1234

medium

in-frame

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

ENSG00000150457.9

ENST00000382592.5

upstream

downstream

duplicates(141),mismappers(3)

CGCACATCTTGCACCCGGTGAAGAGCGTGCGTGTGCTGAGGCCGGAGCCGCAGACGGCTGTGGGGCCCTCGCACCCCGCCTGGGTGCCCGCGCCTGCCCCGGCCCCCGCCCCCGCCCCCGCCCC|CGCCCCGGCTGCGGAGGGCTTGGACGCCAAGGAGGAGCATGCCCTGGCGCTGGGCGGCGCAGGCGCCTTCCCGCTGGACGTGGAGTACGGAGGCCCAGACCGGAGGTGCCCGCCTCCG

HILHPVKSVRVLRPEPQTAVGPSHPAWVPAPAPAPAPAPAp|APAAEGLDAKEEHALALGGAGAFPLDVEYGGPDRRCPP

LH00995:48:23YTGFLT4:1:1132:28263:15629,LH00995:48:23YTGFLT4:1:1172:43149:29613,LH00995:48:23YTGFLT4:1:1219:16581:13835,LH00995:48:23YTGFLT4:1:1239:13952:4461,LH00995:48:23YTGFLT4:1:1309:2052:15573,LH00995:48:23YTGFLT4:1:1315:24097:16007,LH00995:48:23YTGFLT4:1:1316:19809:20883,LH00995:48:23YTGFLT4:1:1361:3346:24204,LH00995:48:23YTGFLT4:1:1368:3160:28534,LH00995:48:23YTGFLT4:1:1426:9656:13695,LH00995:48:23YTGFLT4:1:1426:9664:13681,LH00995:48:23YTGFLT4:1:2174:25933:22943,LH00995:48:23YTGFLT4:1:2250:20278:26572,LH00995:48:23YTGFLT4:1:2266:22932:17212,LH00995:48:23YTGFLT4:1:2288:1599:1392,LH00995:48:23YTGFLT4:1:2307:48747:17198,LH00995:48:23YTGFLT4:1:2308:17593:9421,LH00995:48:23YTGFLT4:1:2311:9438:22341,LH00995:48:23YTGFLT4:1:2312:44346:7221,LH00995:48:23YTGFLT4:1:2381:23935:13625,LH00995:48:23YTGFLT4:1:2383:49289:19118,LH00995:48:23YTGFLT4:1:2383:49297:19132,LH00995:48:23YTGFLT4:1:2432:15651:26881,LH00995:48:23YTGFLT4:1:2457:45608:24176,LH00995:48:23YTGFLT4:1:2467:19203:17422,LH00995:48:23YTGFLT4:1:2471:31418:12070,LH00995:48:23YTGFLT4:1:2480:33198:9071,LH00995:48:23YTGFLT4:2:1139:36992:25732,LH00995:48:23YTGFLT4:2:1192:26014:28548,LH00995:48:23YTGFLT4:2:1203:35625:7502,LH00995:48:23YTGFLT4:2:1218:37389:28464,LH00995:48:23YTGFLT4:2:1276:15691:2906,LH00995:48:23YTGFLT4:2:1315:21727:28016,LH00995:48:23YTGFLT4:2:1325:49936:26236,LH00995:48:23YTGFLT4:2:1326:36814:8833,LH00995:48:23YTGFLT4:2:1354:20659:4055,LH00995:48:23YTGFLT4:2:1376:5563:27147,LH00995:48:23YTGFLT4:2:2208:13774:3452,LH00995:48:23YTGFLT4:2:2257:15238:22831,LH00995:48:23YTGFLT4:2:2286:49815:23223,LH00995:48:23YTGFLT4:2:2286:51376:22481,LH00995:48:23YTGFLT4:2:2308:14130:9057,LH00995:48:23YTGFLT4:2:2309:2254:20071,LH00995:48:23YTGFLT4:2:2320:27559:15559,LH00995:48:23YTGFLT4:2:2359:48788:4237,LH00995:48:23YTGFLT4:2:2409:30237:6437,LH00995:48:23YTGFLT4:2:2426:26257:24204,LH00995:48:23YTGFLT4:2:2443:22293:3718,LH00995:48:23YTGFLT4:2:2453:19429:27511,LH00995:48:23YTGFLT4:2:2459:13871:9674,LH00995:48:23YTGFLT4:2:2481:50713:17408,LH00995:48:23YTGFLT4:2:2487:24437:5918,LH00995:48:23YTGFLT4:3:1111:5935:19720,LH00995:48:23YTGFLT4:3:1365:13127:13317,LH00995:48:23YTGFLT4:3:1385:47526:10486,LH00995:48:23YTGFLT4:3:1396:10441:15643,LH00995:48:23YTGFLT4:3:1422:35900:12938,LH00995:48:23YTGFLT4:3:1440:16314:13737,LH00995:48:23YTGFLT4:3:1481:15578:10164,LH00995:48:23YTGFLT4:3:2322:18256:10346,LH00995:48:23YTGFLT4:3:2323:40884:10164,LH00995:48:23YTGFLT4:3:2362:8168:3298,LH00995:48:23YTGFLT4:3:2478:8427:14508,LH00995:48:23YTGFLT4:4:1155:21670:2471,LH00995:48:23YTGFLT4:4:1214:26726:23700,LH00995:48:23YTGFLT4:4:1229:2561:2471,LH00995:48:23YTGFLT4:4:1250:50584:3592,LH00995:48:23YTGFLT4:4:1390:24065:1434,LH00995:48:23YTGFLT4:4:1464:7868:16315,LH00995:48:23YTGFLT4:4:1486:8402:5946,LH00995:48:23YTGFLT4:4:1493:21031:25129,LH00995:48:23YTGFLT4:4:1496:29420:5050,LH00995:48:23YTGFLT4:4:2130:14389:2079,LH00995:48:23YTGFLT4:4:2147:51498:9015,LH00995:48:23YTGFLT4:4:2173:35965:1476,LH00995:48:23YTGFLT4:4:2204:19251:8146,LH00995:48:23YTGFLT4:4:2204:4374:12588,LH00995:48:23YTGFLT4:4:2220:13054:12938,LH00995:48:23YTGFLT4:4:2230:47145:19440,LH00995:48:23YTGFLT4:4:2242:3443:13443,LH00995:48:23YTGFLT4:4:2263:33910:17787,LH00995:48:23YTGFLT4:4:2278:10174:1392,LH00995:48:23YTGFLT4:4:2302:48812:25493,LH00995:48:23YTGFLT4:4:2366:13475:2065,LH00995:48:23YTGFLT4:4:2379:6396:10542,LH00995:48:23YTGFLT4:4:2381:4980:6521,LH00995:48:23YTGFLT4:4:2453:39314:15068,LH00995:48:23YTGFLT4:4:2472:19097:14606,LH00995:48:23YTGFLT4:4:2489:8305:27806,LH00995:48:23YTGFLT4:5:1141:18393:22299,LH00995:48:23YTGFLT4:5:1151:25844:14550,LH00995:48:23YTGFLT4:5:1156:25885:22691,LH00995:48:23YTGFLT4:5:1229:29978:2093,LH00995:48:23YTGFLT4:5:1284:7334:19202,LH00995:48:23YTGFLT4:5:1284:7343:19188,LH00995:48:23YTGFLT4:5:1319:25610:5708,LH00995:48:23YTGFLT4:5:1408:6574:28422,LH00995:48:23YTGFLT4:5:1459:2925:7698,LH00995:48:23YTGFLT4:5:1474:5587:12448,LH00995:48:23YTGFLT4:5:2232:5482:26418,LH00995:48:23YTGFLT4:5:2278:24728:2079,LH00995:48:23YTGFLT4:5:2322:30852:5372,LH00995:48:23YTGFLT4:5:2345:44298:14928,LH00995:48:23YTGFLT4:5:2383:48116:2401,LH00995:48:23YTGFLT4:5:2387:8977:1673,LH00995:48:23YTGFLT4:5:2426:4268:7838,LH00995:48:23YTGFLT4:5:2479:4285:17002,LH00995:48:23YTGFLT4:5:2480:32939:14620,LH00995:48:23YTGFLT4:6:1166:25076:17731,LH00995:48:23YTGFLT4:6:1188:6509:6002,LH00995:48:23YTGFLT4:6:1209:7957:20393,LH00995:48:23YTGFLT4:6:1268:35447:19160,LH00995:48:23YTGFLT4:6:1285:30949:16301,LH00995:48:23YTGFLT4:6:1291:11379:2303,LH00995:48:23YTGFLT4:6:1366:40042:1729,LH00995:48:23YTGFLT4:6:1426:13895:25942,LH00995:48:23YTGFLT4:6:1432:21937:13135,LH00995:48:23YTGFLT4:6:1433:43003:15208,LH00995:48:23YTGFLT4:6:1447:44840:9365,LH00995:48:23YTGFLT4:6:1471:2667:13443,LH00995:48:23YTGFLT4:6:1471:2675:13457,LH00995:48:23YTGFLT4:6:1479:27559:17100,LH00995:48:23YTGFLT4:6:2192:34929:17787,LH00995:48:23YTGFLT4:6:2221:30739:1112,LH00995:48:23YTGFLT4:6:2234:29323:11523,LH00995:48:23YTGFLT4:6:2247:37219:14774,LH00995:48:23YTGFLT4:6:2283:42720:13541,LH00995:48:23YTGFLT4:6:2342:7140:20351,LH00995:48:23YTGFLT4:6:2353:44945:22691,LH00995:48:23YTGFLT4:6:2401:19073:18599,LH00995:48:23YTGFLT4:6:2402:19874:14886,LH00995:48:23YTGFLT4:7:1158:21209:27147,LH00995:48:23YTGFLT4:7:1167:7480:9786,LH00995:48:23YTGFLT4:7:1232:49831:20813,LH00995:48:23YTGFLT4:7:1233:34857:5526,LH00995:48:23YTGFLT4:7:1360:10295:19146,LH00995:48:23YTGFLT4:7:1361:4463:9295,LH00995:48:23YTGFLT4:7:1361:4471:9309,LH00995:48:23YTGFLT4:7:1402:7464:7908,LH00995:48:23YTGFLT4:7:1463:6056:16848,LH00995:48:23YTGFLT4:7:1476:4899:6773,LH00995:48:23YTGFLT4:7:2140:12884:6871,LH00995:48:23YTGFLT4:7:2168:12779:21878,LH00995:48:23YTGFLT4:7:2188:28644:23798,LH00995:48:23YTGFLT4:7:2217:19890:3424,LH00995:48:23YTGFLT4:7:2278:2642:24891,LH00995:48:23YTGFLT4:7:2284:11428:16596,LH00995:48:23YTGFLT4:7:2308:41628:22747,LH00995:48:23YTGFLT4:7:2409:38449:23209,LH00995:48:23YTGFLT4:7:2409:38457:23195,LH00995:48:23YTGFLT4:7:2424:13976:12238,LH00995:48:23YTGFLT4:7:2439:34938:3340,LH00995:48:23YTGFLT4:7:2491:29234:8174,LH00995:48:23YTGFLT4:8:1119:11598:28744,LH00995:48:23YTGFLT4:8:1165:13507:16385,LH00995:48:23YTGFLT4:8:1173:8597:20603,LH00995:48:23YTGFLT4:8:1238:1154:18445,LH00995:48:23YTGFLT4:8:1249:45819:8258,LH00995:48:23YTGFLT4:8:1258:21330:19875,LH00995:48:23YTGFLT4:8:1319:32430:21164,LH00995:48:23YTGFLT4:8:1352:25003:24162,LH00995:48:23YTGFLT4:8:1367:19275:12981,LH00995:48:23YTGFLT4:8:1369:43885:11691,LH00995:48:23YTGFLT4:8:1464:13095:17801,LH00995:48:23YTGFLT4:8:1493:22115:8258,LH00995:48:23YTGFLT4:4:1242:42372:8875,LH00995:48:23YTGFLT4:5:1234:41110:19917,LH00995:48:23YTGFLT4:1:1439:22172:1406,LH00995:48:23YTGFLT4:1:1439:22180:1392,LH00995:48:23YTGFLT4:1:1439:22188:1378,LH00995:48:23YTGFLT4:1:1439:22204:1378,LH00995:48:23YTGFLT4:1:1124:28660:1210,LH00995:48:23YTGFLT4:1:1161:5304:14031,LH00995:48:23YTGFLT4:1:1242:20610:9884,LH00995:48:23YTGFLT4:1:1298:14268:22803,LH00995:48:23YTGFLT4:1:1412:14737:6661,LH00995:48:23YTGFLT4:1:1467:40779:16848,LH00995:48:23YTGFLT4:1:1483:52129:10837,LH00995:48:23YTGFLT4:1:2275:5061:21066,LH00995:48:23YTGFLT4:1:2292:39881:12042,LH00995:48:23YTGFLT4:1:2411:37696:1252,LH00995:48:23YTGFLT4:1:2415:48513:1210,LH00995:48:23YTGFLT4:2:1136:4454:12672,LH00995:48:23YTGFLT4:2:1203:25828:24667,LH00995:48:23YTGFLT4:2:1314:9527:18824,LH00995:48:23YTGFLT4:2:1407:18434:20603,LH00995:48:23YTGFLT4:2:2168:37154:18249,LH00995:48:23YTGFLT4:2:2178:28716:28941,LH00995:48:23YTGFLT4:2:2221:41798:20295,LH00995:48:23YTGFLT4:2:2233:28595:11888,LH00995:48:23YTGFLT4:2:2258:38303:4825,LH00995:48:23YTGFLT4:2:2292:8200:28548,LH00995:48:23YTGFLT4:2:2310:39290:18389,LH00995:48:23YTGFLT4:2:2336:44791:24358,LH00995:48:23YTGFLT4:2:2352:36725:3438,LH00995:48:23YTGFLT4:2:2381:17504:15461,LH00995:48:23YTGFLT4:3:1148:47477:3536,LH00995:48:23YTGFLT4:3:1162:28684:7726,LH00995:48:23YTGFLT4:3:1273:31888:13695,LH00995:48:23YTGFLT4:3:1274:3540:23672,LH00995:48:23YTGFLT4:3:1297:12010:3648,LH00995:48:23YTGFLT4:3:1355:8410:8567,LH00995:48:23YTGFLT4:3:1440:8095:19426,LH00995:48:23YTGFLT4:3:1450:42113:13359,LH00995:48:23YTGFLT4:3:1451:31880:14774,LH00995:48:23YTGFLT4:3:2161:51587:15951,LH00995:48:23YTGFLT4:3:2246:40350:4559,LH00995:48:23YTGFLT4:3:2276:31880:3901,LH00995:48:23YTGFLT4:3:2343:32438:9912,LH00995:48:23YTGFLT4:3:2369:37324:20477,LH00995:48:23YTGFLT4:3:2456:44435:14746,LH00995:48:23YTGFLT4:4:1173:10279:10682,LH00995:48:23YTGFLT4:4:1262:48448:20043,LH00995:48:23YTGFLT4:4:1323:52064:18571,LH00995:48:23YTGFLT4:4:1325:3985:16568,LH00995:48:23YTGFLT4:4:1355:23175:15587,LH00995:48:23YTGFLT4:4:1387:2586:22607,LH00995:48:23YTGFLT4:4:1387:2594:22621,LH00995:48:23YTGFLT4:4:1446:30310:7572,LH00995:48:23YTGFLT4:4:2324:47542:5162,LH00995:48:23YTGFLT4:4:2355:40091:29389,LH00995:48:23YTGFLT4:4:2448:21872:12882,LH00995:48:23YTGFLT4:5:1150:28304:21780,LH00995:48:23YTGFLT4:5:1230:16856:3158,LH00995:48:23YTGFLT4:5:1230:16864:3144,LH00995:48:23YTGFLT4:5:1254:50543:1897,LH00995:48:23YTGFLT4:5:1271:11913:3340,LH00995:48:23YTGFLT4:5:1362:11865:18361,LH00995:48:23YTGFLT4:5:1362:11881:18361,LH00995:48:23YTGFLT4:5:1376:23943:28492,LH00995:48:23YTGFLT4:5:1458:14106:3018,LH00995:48:23YTGFLT4:5:1467:7521:11229,LH00995:48:23YTGFLT4:5:2350:33514:28870,LH00995:48:23YTGFLT4:5:2433:5045:21514,LH00995:48:23YTGFLT4:6:1102:21265:13037,LH00995:48:23YTGFLT4:6:1119:12803:29375,LH00995:48:23YTGFLT4:6:1146:14235:18655,LH00995:48:23YTGFLT4:6:1189:23167:13751,LH00995:48:23YTGFLT4:6:1252:49516:4909,LH00995:48:23YTGFLT4:6:1252:49524:4923,LH00995:48:23YTGFLT4:6:1294:1526:4573,LH00995:48:23YTGFLT4:6:1402:13353:3116,LH00995:48:23YTGFLT4:6:2113:11663:12098,LH00995:48:23YTGFLT4:6:2117:22034:21738,LH00995:48:23YTGFLT4:6:2228:36879:27441,LH00995:48:23YTGFLT4:6:2260:30529:10108,LH00995:48:23YTGFLT4:6:2301:27268:9814,LH00995:48:23YTGFLT4:6:2455:29250:23728,LH00995:48:23YTGFLT4:6:2462:18086:21290,LH00995:48:23YTGFLT4:6:2484:40237:2709,LH00995:48:23YTGFLT4:7:1117:10457:27133,LH00995:48:23YTGFLT4:7:1157:18620:4867,LH00995:48:23YTGFLT4:7:1163:37858:13863,LH00995:48:23YTGFLT4:7:12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ARHGEF35

-/-

chr7:144188356

chr7:144188377

CDS

duplication/ITD

120

406

541

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(180),low_entropy(3),mismappers(1)

GGCTCTGGGGACTGCGGCCGGCGCCGGGACCTGGAGGGGACGCTGGGGCCGAAGCAGCATGTGACACCGACCAG___GATTCAGCCCTGATGGAGGCTGAGGAGGCCCAGCgTGGAG|GCTGAGGAGGCCCAGCgTGGAGCCTCTCCTCCCATCTCTGCCATAGAGGAATTCAGCATTATCCCTGAGGCTCCCATGAGGAGCAGCCAGGTCTCTGCCTTGGGGCTTGAAGCTCAAGAAGATGAG

MEAEEAQrG|g*

LH00995:48:23YTGFLT4:5:2312:41199:24779,LH00995:48:23YTGFLT4:6:2258:21274:18487,LH00995:48:23YTGFLT4:6:2258:21274:18487,LH00995:48:23YTGFLT4:8:1261:9058:20869,LH00995:48:23YTGFLT4:2:2261:37826:24288,LH00995:48:23YTGFLT4:2:2261:37834:24274,LH00995:48:23YTGFLT4:1:1141:2367:1771,LH00995:48:23YTGFLT4:1:1141:2367:1771,LH00995:48:23YTGFLT4:1:1158:39970:10094,LH00995:48:23YTGFLT4:1:1158:39970:10094,LH00995:48:23YTGFLT4:1:1159:41790:2541,LH00995:48:23YTGFLT4:1:1159:41790:2541,LH00995:48:23YTGFLT4:1:1168:45641:27231,LH00995:48:23YTGFLT4:1:1168:45641:27231,LH00995:48:23YTGFLT4:1:1169:28886:8777,LH00995:48:23YTGFLT4:1:1202:39913:14816,LH00995:48:23YTGFLT4:1:1202:39913:14816,LH00995:48:23YTGFLT4:1:1245:14033:2275,LH00995:48:23YTGFLT4:1:1245:2885:1238,LH00995:48:23YTGFLT4:1:1245:2885:1238,LH00995:48:23YTGFLT4:1:1251:40722:4055,LH00995:48:23YTGFLT4:1:1251:40722:4055,LH00995:48:23YTGFLT4:1:1270:2715:14228,LH00995:48:23YTGFLT4:1:1270:2715:14228,LH00995:48:23YTGFLT4:1:1360:6178:24344,LH00995:48:23YTGFLT4:1:1360:6178:24344,LH00995:48:23YTGFLT4:1:1382:35787:19104,LH00995:48:23YTGFLT4:1:1382:35795:19090,LH00995:48:23YTGFLT4:1:1428:16525:14494,LH00995:48:23YTGFLT4:1:1428:16525:14494,LH00995:48:23YTGFLT4:1:1434:19777:7348,LH00995:48:23YTGFLT4:1:1434:19777:7348,LH00995:48:23YTGFLT4:1:1437:27568:28520,LH00995:48:23YTGFLT4:1:1442:5085:2107,LH00995:48:23YTGFLT4:1:1484:44937:25507,LH00995:48:23YTGFLT4:1:1484:44937:25507,LH00995:48:23YTGFLT4:1:1497:4357:29011,LH00995:48:23YTGFLT4:1:1497:4357:29011,LH00995:48:23YTGFLT4:1:1497:4365:29025,LH00995:48:23YTGFLT4:1:1497:4365:29025,LH00995:48:23YTGFLT4:1:2149:20319:3887,LH00995:48:23YTGFLT4:1:2149:20319:3887,LH00995:48:23YTGFLT4:1:2161:51417:3494,LH00995:48:23YTGFLT4:1:2161:51417:3494,LH00995:48:23YTGFLT4:1:2192:14494:1392,LH00995:48:23YTGFLT4:1:2192:14494:1392,LH00995:48:23YTGFLT4:1:2339:23628:9309,LH00995:48:23YTGFLT4:1:2393:2561:5778,LH00995:48:23YTGFLT4:1:2449:24760:6731,LH00995:48:23YTGFLT4:1:2449:24760:6731,LH00995:48:23YTGFLT4:1:2462:30674:25914,LH00995:48:23YTGFLT4:1:2462:30674:25914,LH00995:48:23YTGFLT4:1:2478:3152:21682,LH00995:48:23YTGFLT4:1:2491:38384:13905,LH00995:48:23YTGFLT4:1:2491:38384:13905,LH00995:48:23YTGFLT4:2:1106:16986:7221,LH00995:48:23YTGFLT4:2:1110:49419:20939,LH00995:48:23YTGFLT4:2:1110:49419:20939,LH00995:48:23YTGFLT4:2:1110:49427:20954,LH00995:48:23YTGFLT4:2:1110:49427:20954,LH00995:48:23YTGFLT4:2:1141:38117:21962,LH00995:48:23YTGFLT4:2:1141:38125:21948,LH00995:48:23YTGFLT4:2:1146:48513:2415,LH00995:48:23YTGFLT4:2:1151:21743:8875,LH00995:48:23YTGFLT4:2:1151:21743:8875,LH00995:48:23YTGFLT4:2:1185:42890:28856,LH00995:48:23YTGFLT4:2:1244:22350:6731,LH00995:48:23YTGFLT4:2:1244:22350:6731,LH00995:48:23YTGFLT4:2:1248:36329:17380,LH00995:48:23YTGFLT4:2:1308:34840:8553,LH00995:48:23YTGFLT4:2:1308:34840:8553,LH00995:48:23YTGFLT4:2:1317:38408:6829,LH00995:48:23YTGFLT4:2:1317:38408:6829,LH00995:48:23YTGFLT4:2:1354:33190:12504,LH00995:48:23YTGFLT4:2:1354:33190:12504,LH00995:48:23YTGFLT4:2:1417:48116:21542,LH00995:48:23YTGFLT4:2:1417:48116:21542,LH00995:48:23YTGFLT4:2:1437:26856:10725,LH00995:48:23YTGFLT4:2:1437:26856:10725,LH00995:48:23YTGFLT4:2:1478:41393:17352,LH00995:48:23YTGFLT4:2:1483:39994:17591,LH00995:48:23YTGFLT4:2:1483:39994:17591,LH00995:48:23YTGFLT4:2:1489:1032:7698,LH00995:48:23YTGFLT4:2:1489:1032:7698,LH00995:48:23YTGFLT4:2:1495:22811:1785,LH00995:48:23YTGFLT4:2:1495:22811:1785,LH00995:48:23YTGFLT4:2:2106:51279:17240,LH00995:48:23YTGFLT4:2:2106:51279:17240,LH00995:48:23YTGFLT4:2:2146:47105:4825,LH00995:48:23YTGFLT4:2:2146:47105:4825,LH00995:48:23YTGFLT4:2:2257:34946:2850,LH00995:48:23YTGFLT4:2:2260:20044:13863,LH00995:48:23YTGFLT4:2:2291:22350:1827,LH00995:48:23YTGFLT4:2:2310:36968:25381,LH00995:48:23YTGFLT4:2:2310:36968:25381,LH00995:48:23YTGFLT4:2:2327:12229:10556,LH00995:48:23YTGFLT4:2:2327:12229:10556,LH00995:48:23YTGFLT4:2:2442:46369:16666,LH00995:48:23YTGFLT4:2:2442:46369:16666,LH00995:48:23YTGFLT4:2:2467:47404:2485,LH00995:48:23YTGFLT4:2:2467:47404:2485,LH00995:48:23YTGFLT4:2:2483:16824:7362,LH00995:48:23YTGFLT4:2:2483:16824:7362,LH00995:48:23YTGFLT4:3:1103:39266:11789,LH00995:48:23YTGFLT4:3:1106:5870:3550,LH00995:48:23YTGFLT4:3:1106:5870:3550,LH00995:48:23YTGFLT4:3:1151:3273:21976,LH00995:48:23YTGFLT4:3:1151:3273:21976,LH00995:48:23YTGFLT4:3:1173:32867:10654,LH00995:48:23YTGFLT4:3:1173:32867:10654,LH00995:48:23YTGFLT4:3:1232:33409:10444,LH00995:48:23YTGFLT4:3:1232:33409:10444,LH00995:48:23YTGFLT4:3:1279:9737:19804,LH00995:48:23YTGFLT4:3:1279:9737:19804,LH00995:48:23YTGFLT4:3:1286:44201:15180,LH00995:48:23YTGFLT4:3:1286:44201:15180,LH00995:48:23YTGFLT4:3:1388:20998:7334,LH00995:48:23YTGFLT4:3:1443:11784:4741,LH00995:48:23YTGFLT4:3:1443:11784:4741,LH00995:48:23YTGFLT4:3:1459:14486:28366,LH00995:48:23YTGFLT4:3:1492:26605:7852,LH00995:48:23YTGFLT4:3:1492:26605:7852,LH00995:48:23YTGFLT4:3:2132:21961:11439,LH00995:48:23YTGFLT4:3:2149:49661:7852,LH00995:48:23YTGFLT4:3:2149:49661:7852,LH00995:48:23YTGFLT4:3:2257:19761:9505,LH00995:48:23YTGFLT4:3:2257:19761:9505,LH00995:48:23YTGFLT4:3:2263:7731:18067,LH00995:48:23YTGFLT4:3:2263:7731:18067,LH00995:48:23YTGFLT4:3:2306:27487:20113,LH00995:48:23YTGFLT4:3:2306:27487:20113,LH00995:48:23YTGFLT4:3:2321:42178:5680,LH00995:48:23YTGFLT4:3:2321:42178:5680,LH00995:48:23YTGFLT4:3:2348:43497:1266,LH00995:48:23YTGFLT4:3:2348:43497:1266,LH00995:48:23YTGFLT4:3:2381:23579:9141,LH00995:48:23YTGFLT4:4:1146:29808:21668,LH00995:48:23YTGFLT4:4:1146:29808:21668,LH00995:48:23YTGFLT4:4:1160:33813:21150,LH00995:48:23YTGFLT4:4:1160:33813:21150,LH00995:48:23YTGFLT4:4:1165:24679:14494,LH00995:48:23YTGFLT4:4:1165:24679:14494,LH00995:48:23YTGFLT4:4:1186:37445:14101,LH00995:48:23YTGFLT4:4:1186:37445:14101,LH00995:48:23YTGFLT4:4:1191:25035:3312,LH00995:48:23YTGFLT4:4:1191:25035:3312,LH00995:48:23YTGFLT4:4:1209:13596:3704,LH00995:48:23YTGFLT4:4:1209:13596:3704,LH00995:48:23YTGFLT4:4:1209:13612:3704,LH00995:48:23YTGFLT4:4:1209:13612:3704,LH00995:48:23YTGFLT4:4:1228:27373:23868,LH00995:48:23YTGFLT4:4:1228:27373:23868,LH00995:48:23YTGFLT4:4:1277:45730:26769,LH00995:48:23YTGFLT4:4:1277:45730:26769,LH00995:48:23YTGFLT4:4:1343:33546:6339,LH00995:48:23YTGFLT4:4:1359:1607:12924,LH00995:48:23YTGFLT4:4:1359:1607:12924,LH00995:48:23YTGFLT4:4:1381:2440:14200,LH00995:48:23YTGFLT4:4:1423:11477:19482,LH00995:48:23YTGFLT4:4:1423:11477:19482,LH00995:48:23YTGFLT4:4:1431:22908:16385,LH00995:48:23YTGFLT4:4:1454:7197:26699,LH00995:48:23YTGFLT4:4:1454:7197:26699,LH00995:48:23YTGFLT4:4:1465:3589:15853,LH00995:48:23YTGFLT4:4:1465:3589:15853,LH00995:48:23YTGFLT4:4:1497:17576:3368,LH00995:48:23YTGFLT4:4:1497:17576:3368,LH00995:48:23YTGFLT4:4:2115:14494:26082,LH00995:48:23YTGFLT4:4:2115:14494:26082,LH00995:48:23YTGFLT4:4:2152:5959:17016,LH00995:48:23YTGFLT4:4:2152:5959:17016,LH00995:48:23YTGFLT4:4:2166:21557:5498,LH00995:48:23YTGFLT4:4:2166:21557:5498,LH00995:48:23YTGFLT4:4:2286:16169:12672,LH00995:48:23YTGFLT4:4:2497:17860:1645,LH00995:48:23YTGFLT4:5:1123:44055:26671,LH00995:48:23YTGFLT4:5:1123:44055:26671,LH00995:48:23YTGFLT4:5:1141:43723:23041,LH00995:48:23YTGFLT4:5:1141:43723:23041,LH00995:48:23YTGFLT4:5:1174:19227:19202,LH00995:48:23YTGFLT4:5:1174:19227:19202,LH00995:48:23YTGFLT4:5:1241:12658:17577,LH00995:48:23YTGFLT4:5:1241:12658:17577,LH00995:48:23YTGFLT4:5:1343:30901:18375,LH00995:48:23YTGFLT4:5:1343:30901:18375,LH00995:48:23YTGFLT4:5:1355:46393:20659,LH00995:48:23YTGFLT4:5:1359:38505:20645,LH00995:48:23YTGFLT4:5:1359:38505:20645,LH00995:48:23YTGFLT4:5:1359:38934:18754,LH00995:48:23YTGFLT4:5:1359:38934:18754,LH00995:48:23YTGFLT4:5:1474:32899:24751,LH00995:48:23YTGFLT4:5:2134:15069:29403,LH00995:48:23YTGFLT4:5:2134:15069:29403,LH00995:48:23YTGFLT4:5:2136:3023:4615,LH00995:48:23YTGFLT4:5:2150:4859:1238,LH00995:48:23YTGFLT4:5:2177:9907:17072,LH00995:48:23YTGFLT4:5:2177:9907:17072,LH00995:48:23YTGFLT4:5:2178:39913:14172,LH00995:48:23YTGFLT4:5:2178:39913:14172,LH00995:48:23YTGFLT4:5:2244:24866:8034,LH00995:48:23YTGFLT4:5:2244:24866:8034,LH00995:48:23YTGFLT4:5:2245:4009:7866,LH00995:48:23YTGFLT4:5:2245:4009:7866,LH00995:48:23YTGFLT4:5:2255:43117:15685,LH00995:48:23YTGFLT4:5:2265:18393:5120,LH00995:48:23YTGFLT4:5:2269:13062:4349,LH00995:48:23YTGFLT4:5:2269:13062:4349,LH00995:48:23YTGFLT4:5:2312:24801:9351,LH00995:48:23YTGFLT4:5:2430:14891:25423,LH00995:48:23YTGFLT4:5:2441:22608:6955,LH00995:48:23YTGFLT4:6:1121:26799:28702,LH00995:48:23YTGFLT4:6:1121:26799:28702,LH00995:48:23YTGFLT4:6:1179:5571:14354,LH00995:48:23YTGFLT4:6:1179:5571:14354,LH00995:48:23YTGFLT4:6:1217:50648:10010,LH00995:48:23YTGFLT4:6:1217:50648:10010,LH00995:48:23YTGFLT4:6:1233:30674:16778,LH00995:48:23YTGFLT4:6:1233:30674:16778,LH00995:48:23YTGFLT4:6:1249:17512:7992,LH00995:48:23YTGFLT4:6:1249:17512:7992,LH00995:48:23YTGFLT4:6:1273:11371:17198,LH00995:48:23YTGFLT4:6:1284:6275:23616,LH00995:48:23YTGFLT4:6:1284:6275:23616,LH00995:48:23YTGFLT4:6:1318:23328:25774,LH00995:48:23YTGFLT4:6:1318:23328:25774,LH00995:48:23YTGFLT4:6:1318:5514:23336,LH00995:48:23YTGFLT4:6:1318:5514:23336,LH00995:48:23YTGFLT4:6:1353:51158:29417,LH00995:48:23YTGFLT4:6:1353:51158:29417,LH00995:48:23YTGFLT4:6:1439:52161:18123,LH00995:48:23YTGFLT4:6:1439:52161:18123,LH00995:48:23YTGFLT4:6:1445:47687:14354,LH00995:48:23YTGFLT4:6:1479:42566:19356,LH00995:48:23YTGFLT4:6:1479:42566:19356,LH00995:48:23YTGFLT4:6:2160:37243:17366,LH00995:48:23YTGFLT4:6:2160:37243:17366,LH00995:48:23YTGFLT4:6:2164:39096:7235,LH00995:48:23YTGFLT4:6:2164:39096:7235,LH00995:48:23YTGFLT4:6:2164:48424:19384,LH00995:48:23YTGFLT4:6:2164:48424:19384,LH00995:48:23YTGFLT4:6:2183:4430:17871,LH00995:48:23YTGFLT4:6:2227:7254:26657,LH00995:48:23YTGFLT4:6:2227:7254:26657,LH00995:48:23YTGFLT4:6:2237:35747:13317,LH00995:48:23YTGFLT4:6:2237:35747:13317,LH00995:48:23YTGFLT4:6:2307:15158:16554,LH00995:48:23YTGFLT4:6:2307:15158:16554,LH00995:48:23YTGFLT4:6:2330:20359:4601,LH00995:48:23YTGFLT4:6:2330:20359:4601,LH00995:48:23YTGFLT4:6:2395:29388:8721,LH00995:48:23YTGFLT4:6:2395:29388:8721,LH00995:48:23YTGFLT4:6:2417:32155:12196,LH00995:48:23YTGFLT4:6:2494:11072:10346,LH00995:48:23YTGFLT4:6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ADAMTS7

-/-

chr15:78765842

chr15:78765848

CDS

duplication/ITD

736

491

medium

out-of-frame

ADAM-TS_Spacer_1(100%),ADAMTS_cysteine-rich_domain_2(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%),Thrombospondin_type_1_domain(50%)|Thrombospondin_type_1_domain(49%)

ENSG00000136378.15

ENST00000388820.5

upstream

downstream

duplicates(57)

CCTGGAGCCaGGGACTCCCaCCTTCCCAACCCCAGGACCAGGCTCATGGGACCTGCAGACTGTGGCAGTGTGGGGGACCTTCCTCCCCACAACCCTGACTGGCCTCGGGCACATGCCTGAGCCTGCCCTGAACCCAGGACCCA|GGACCCAAGGGcCAGCCTGAGTCCCTCAGCCCTGAGGTGCCCCTGAGCTCTAGGCTGCTGTCCACACCAGCTTGGGACAGCCCCGCCAACAGCCACAGAGcCCCTGAGACCCAGC

LEPGTPtFPTPGPGSWDLQTVAVWGTFLPTTLTGLGHMPEPALNPGP|rtqgpa*

LH00995:48:23YTGFLT4:1:1150:8200:26699,LH00995:48:23YTGFLT4:1:1264:40673:24092,LH00995:48:23YTGFLT4:1:1471:8475:5960,LH00995:48:23YTGFLT4:1:2258:13523:3382,LH00995:48:23YTGFLT4:1:2287:42477:15166,LH00995:48:23YTGFLT4:1:2416:43335:29151,LH00995:48:23YTGFLT4:1:2419:18571:13667,LH00995:48:23YTGFLT4:1:2465:18151:28212,LH00995:48:23YTGFLT4:2:1156:1801:13625,LH00995:48:23YTGFLT4:2:1332:39225:12756,LH00995:48:23YTGFLT4:2:2127:21621:7516,LH00995:48:23YTGFLT4:2:2234:12981:28534,LH00995:48:23YTGFLT4:2:2254:42591:3788,LH00995:48:23YTGFLT4:2:2305:28449:18221,LH00995:48:23YTGFLT4:3:1105:33587:17226,LH00995:48:23YTGFLT4:3:1203:4131:19538,LH00995:48:23YTGFLT4:3:1203:4139:19552,LH00995:48:23YTGFLT4:3:1244:51417:7866,LH00995:48:23YTGFLT4:3:1251:22875:15180,LH00995:48:23YTGFLT4:3:1293:13847:3859,LH00995:48:23YTGFLT4:3:1372:41134:27021,LH00995:48:23YTGFLT4:3:1372:41151:27021,LH00995:48:23YTGFLT4:3:2157:35366:8483,LH00995:48:23YTGFLT4:3:2243:50810:28030,LH00995:48:23YTGFLT4:3:2320:21120:20463,LH00995:48:23YTGFLT4:3:2323:28603:17310,LH00995:48:23YTGFLT4:3:2442:22341:13079,LH00995:48:23YTGFLT4:3:2445:9284:20421,LH00995:48:23YTGFLT4:4:1138:3419:5470,LH00995:48:23YTGFLT4:4:1161:5741:15601,LH00995:48:23YTGFLT4:4:1173:34614:2527,LH00995:48:23YTGFLT4:4:1173:34622:2513,LH00995:48:23YTGFLT4:4:1244:16509:22733,LH00995:48:23YTGFLT4:4:1315:38521:13247,LH00995:48:23YTGFLT4:4:1327:19874:1771,LH00995:48:23YTGFLT4:4:1328:33878:26811,LH00995:48:23YTGFLT4:4:1378:10595:24765,LH00995:48:23YTGFLT4:4:1424:27406:16890,LH00995:48:23YTGFLT4:4:1470:45956:9477,LH00995:48:23YTGFLT4:4:2136:41871:14872,LH00995:48:23YTGFLT4:4:2172:3378:24989,LH00995:48:23YTGFLT4:4:2202:38643:13317,LH00995:48:23YTGFLT4:4:2258:18507:1392,LH00995:48:23YTGFLT4:4:2286:4560:4475,LH00995:48:23YTGFLT4:4:2298:30456:25339,LH00995:48:23YTGFLT4:4:2470:34824:4293,LH00995:48:23YTGFLT4:5:1106:41054:28058,LH00995:48:23YTGFLT4:5:1155:21718:6030,LH00995:48:23YTGFLT4:5:1209:38497:6731,LH00995:48:23YTGFLT4:5:1288:45811:13709,LH00995:48:23YTGFLT4:5:1307:47056:26853,LH00995:48:23YTGFLT4:5:1353:35399:25101,LH00995:48:23YTGFLT4:5:2118:13709:22257,LH00995:48:23YTGFLT4:5:2179:31782:15643,LH00995:48:23YTGFLT4:5:2206:40754:7978,LH00995:48:23YTGFLT4:5:2309:39525:14564,LH00995:48:23YTGFLT4:5:2315:4875:15671,LH00995:48:23YTGFLT4:5:2357:46603:15475,LH00995:48:23YTGFLT4:5:2357:46611:15489,LH00995:48:23YTGFLT4:5:2410:41984:15152,LH00995:48:23YTGFLT4:6:1138:8588:29641,LH00995:48:23YTGFLT4:6:1201:48367:4489,LH00995:48:23YTGFLT4:6:1207:13143:1210,LH00995:48:23YTGFLT4:6:1245:40884:7894,LH00995:48:23YTGFLT4:6:1284:8467:3536,LH00995:48:23YTGFLT4:6:1377:12399:29291,LH00995:48:23YTGFLT4:6:1384:3726:17044,LH00995:48:23YTGFLT4:6:1443:49176:8805,LH00995:48:23YTGFLT4:6:1462:25213:13569,LH00995:48:23YTGFLT4:6:2157:41223:27623,LH00995:48:23YTGFLT4:6:2242:11517:17983,LH00995:48:23YTGFLT4:6:2381:32705:6339,LH00995:48:23YTGFLT4:6:2402:30148:19959,LH00995:48:23YTGFLT4:6:2451:48642:16091,LH00995:48:23YTGFLT4:6:2454:30771:11649,LH00995:48:23YTGFLT4:7:1114:49427:9295,LH00995:48:23YTGFLT4:7:1128:15457:28310,LH00995:48:23YTGFLT4:7:1174:27600:5176,LH00995:48:23YTGFLT4:7:1284:35997:15433,LH00995:48:23YTGFLT4:7:1361:26823:7558,LH00995:48:23YTGFLT4:7:1408:31038:22537,LH00995:48:23YTGFLT4:7:1480:39597:10318,LH00995:48:23YTGFLT4:7:2155:20505:24639,LH00995:48:23YTGFLT4:7:2176:10724:4643,LH00995:48:23YTGFLT4:7:2214:48569:26699,LH00995:48:23YTGFLT4:7:2224:6388:16582,LH00995:48:23YTGFLT4:7:2286:42914:23153,LH00995:48:23YTGFLT4:7:2319:31281:17492,LH00995:48:23YTGFLT4:7:2340:5522:9646,LH00995:48:23YTGFLT4:7:2412:12480:21164,LH00995:48:23YTGFLT4:7:2449:48262:24793,LH00995:48:23YTGFLT4:7:2456:20586:22397,LH00995:48:23YTGFLT4:7:2460:48610:27834,LH00995:48:23YTGFLT4:8:1144:17811:2317,LH00995:48:23YTGFLT4:8:1195:40406:15643,LH00995:48:23YTGFLT4:8:2114:27988:20561,LH00995:48:23YTGFLT4:8:2118:9753:29305,LH00995:48:23YTGFLT4:1:1223:23288:25844,LH00995:48:23YTGFLT4:1:1231:3419:26264,LH00995:48:23YTGFLT4:1:1244:52202:22705,LH00995:48:23YTGFLT4:1:1298:21063:19104,LH00995:48:23YTGFLT4:1:1475:43594:3200,LH00995:48:23YTGFLT4:1:2134:51336:2906,LH00995:48:23YTGFLT4:1:2141:38513:19230,LH00995:48:23YTGFLT4:1:2282:43982:10823,LH00995:48:23YTGFLT4:1:2331:1671:12112,LH00995:48:23YTGFLT4:1:2339:12358:27904,LH00995:48:23YTGFLT4:1:2389:32680:19216,LH00995:48:23YTGFLT4:1:2459:1534:27287,LH00995:48:23YTGFLT4:2:1246:49200:19804,LH00995:48:23YTGFLT4:2:1313:51749:20911,LH00995:48:23YTGFLT4:2:1431:12933:22957,LH00995:48:23YTGFLT4:2:2149:34889:23097,LH00995:48:23YTGFLT4:2:2241:3395:8595,LH00995:48:23YTGFLT4:2:2323:23078:8721,LH00995:48:23YTGFLT4:2:2458:42631:19496,LH00995:48:23YTGFLT4:2:2467:44273:1799,LH00995:48:23YTGFLT4:3:1173:3759:27469,LH00995:48:23YTGFLT4:3:1361:7068:17394,LH00995:48:23YTGFLT4:3:2122:24631:7207,LH00995:48:23YTGFLT4:3:2265:43869:12112,LH00995:48:23YTGFLT4:3:2339:27058:23658,LH00995:48:23YTGFLT4:3:2352:3467:11131,LH00995:48:23YTGFLT4:3:2367:47380:4517,LH00995:48:23YTGFLT4:3:2401:20788:27511,LH00995:48:23YTGFLT4:3:2443:39840:18165,LH00995:48:23YTGFLT4:4:1337:21816:29039,LH00995:48:23YTGFLT4:4:1349:34808:8132,LH00995:48:23YTGFLT4:4:1385:26047:22803,LH00995:48:23YTGFLT4:4:1475:50300:13107,LH00995:48:23YTGFLT4:4:2150:28126:22004,LH00995:48:23YTGFLT4:4:2292:49540:22607,LH00995:48:23YTGFLT4:4:2329:6606:9449,LH00995:48:23YTGFLT4:4:2351:51773:3242,LH00995:48:23YTGFLT4:4:2381:24178:23602,LH00995:48:23YTGFLT4:4:2402:40487:5610,LH00995:48:23YTGFLT4:4:2449:44419:2387,LH00995:48:23YTGFLT4:4:2463:37421:12686,LH00995:48:23YTGFLT4:4:2478:11841:6829,LH00995:48:23YTGFLT4:5:1125:4349:9912,LH00995:48:23YTGFLT4:5:1229:9656:24681,LH00995:48:23YTGFLT4:5:1263:1914:15475,LH00995:48:23YTGFLT4:5:1363:5069:21304,LH00995:48:23YTGFLT4:5:1401:2214:16273,LH00995:48:23YTGFLT4:5:1495:11582:1617,LH00995:48:23YTGFLT4:5:2127:41118:7740,LH00995:48:23YTGFLT4:5:2151:5215:24330,LH00995:48:23YTGFLT4:5:2307:4827:15363,LH00995:48:23YTGFLT4:5:2363:41636:26600,LH00995:48:23YTGFLT4:6:1236:10603:16624,LH00995:48:23YTGFLT4:6:1278:39063:5946,LH00995:48:23YTGFLT4:6:1302:42105:27217,LH00995:48:23YTGFLT4:6:1342:34234:25017,LH00995:48:23YTGFLT4:6:1445:2027:20911,LH00995:48:23YTGFLT4:6:1452:24874:11467,LH00995:48:23YTGFLT4:6:1462:43214:22663,LH00995:48:23YTGFLT4:6:2185:29072:26110,LH00995:48:23YTGFLT4:6:2362:12722:21780,LH00995:48:23YTGFLT4:6:2492:27260:14592,LH00995:48:23YTGFLT4:7:1124:31216:29067,LH00995:48:23YTGFLT4:7:1247:42461:21136,LH00995:48:23YTGFLT4:7:1328:24534:6899,LH00995:48:23YTGFLT4:7:1464:42752:21304,LH00995:48:23YTGFLT4:7:1490:23393:2289,LH00995:48:23YTGFLT4:7:1491:48901:17492,LH00995:48:23YTGFLT4:7:2173:39921:18950,LH00995:48:23YTGFLT4:7:2264:28336:17492,LH00995:48:23YTGFLT4:7:2367:19041:21066,LH00995:48:23YTGFLT4:7:2377:20529:14424,LH00995:48:23YTGFLT4:7:2464:39711:28870,LH00995:48:23YTGFLT4:8:1303:19105:19104,LH00995:48:23YTGFLT4:8:1307:36208:10697,LH00995:48:23YTGFLT4:8:1357:7739:17829,LH00995:48:23YTGFLT4:8:1407:48205:28590,LH00995:48:23YTGFLT4:8:1424:49969:27161,LH00995:48:23YTGFLT4:8:2137:26395:12000

ZNF814

-/-

chr19:57874500

chr19:57874583

CDS

duplication/ITD

312

347

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(156)

GCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATt

CECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKKH

LH00995:48:23YTGFLT4:1:1125:23239:11355,LH00995:48:23YTGFLT4:1:1125:23239:11355,LH00995:48:23YTGFLT4:1:1125:23239:11355,LH00995:48:23YTGFLT4:1:1445:36523:25956,LH00995:48:23YTGFLT4:1:2243:1542:27609,LH00995:48:23YTGFLT4:2:2225:14284:25774,LH00995:48:23YTGFLT4:3:1241:4374:8300,LH00995:48:23YTGFLT4:3:1241:4390:8300,LH00995:48:23YTGFLT4:3:1265:9883:17394,LH00995:48:23YTGFLT4:3:1275:45988:11691,LH00995:48:23YTGFLT4:3:1275:45988:11691,LH00995:48:23YTGFLT4:3:1275:45988:11691,LH00995:48:23YTGFLT4:3:1298:19122:19440,LH00995:48:23YTGFLT4:3:1298:19122:19440,LH00995:48:23YTGFLT4:3:1298:19122:19440,LH00995:48:23YTGFLT4:3:2169:3233:4111,LH00995:48:23YTGFLT4:3:2305:38530:19987,LH00995:48:23YTGFLT4:3:2305:38530:19987,LH00995:48:23YTGFLT4:3:2305:38530:19987,LH00995:48:23YTGFLT4:3:2344:5692:18151,LH00995:48:23YTGFLT4:3:2412:34290:7908,LH00995:48:23YTGFLT4:3:2429:4689:8146,LH00995:48:23YTGFLT4:3:2429:4689:8146,LH00995:48:23YTGFLT4:3:2429:4689:8146,LH00995:48:23YTGFLT4:3:2482:24501:7516,LH00995:48:23YTGFLT4:4:1165:46069:15559,LH00995:48:23YTGFLT4:4:2151:9616:20155,LH00995:48:23YTGFLT4:5:1234:33320:6199,LH00995:48:23YTGFLT4:5:1236:45649:25339,LH00995:48:23YTGFLT4:5:1318:18135:9716,LH00995:48:23YTGFLT4:5:1318:18135:9716,LH00995:48:23YTGFLT4:5:1318:18135:9716,LH00995:48:23YTGFLT4:5:1318:18143:9730,LH00995:48:23YTGFLT4:5:1318:18143:9730,LH00995:48:23YTGFLT4:5:1318:18143:9730,LH00995:48:23YTGFLT4:5:1333:16589:9029,LH00995:48:23YTGFLT4:5:1388:24607:15713,LH00995:48:23YTGFLT4:5:1392:47922:22046,LH00995:48:23YTGFLT4:5:1392:47930:22032,LH00995:48:23YTGFLT4:5:1439:12779:15040,LH00995:48:23YTGFLT4:5:2225:8427:17338,LH00995:48:23YTGFLT4:5:2225:8597:17492,LH00995:48:23YTGFLT4:5:2306:38538:29641,LH00995:48:23YTGFLT4:5:2470:31564:25858,LH00995:48:23YTGFLT4:5:2470:31564:25858,LH00995:48:23YTGFLT4:6:1113:40293:25732,LH00995:48:23YTGFLT4:6:1476:26257:15657,LH00995:48:23YTGFLT4:6:1476:26257:15657,LH00995:48:23YTGFLT4:6:1476:26257:15657,LH00995:48:23YTGFLT4:7:1208:35649:20491,LH00995:48:23YTGFLT4:7:1291:1251:11103,LH00995:48:23YTGFLT4:7:1291:1251:11103,LH00995:48:23YTGFLT4:7:1291:1251:11103,LH00995:48:23YTGFLT4:7:1315:50592:15152,LH00995:48:23YTGFLT4:7:2193:7707:18641,LH00995:48:23YTGFLT4:8:1107:46086:26320,LH00995:48:23YTGFLT4:8:1157:15279:15194,LH00995:48:23YTGFLT4:8:1241:24396:12798,LH00995:48:23YTGFLT4:8:1290:22770:23574,LH00995:48:23YTGFLT4:8:1290:22778:23588,LH00995:48:23YTGFLT4:8:1430:35738:23336,LH00995:48:23YTGFLT4:8:1481:26249:20491,LH00995:48:23YTGFLT4:1:1125:23239:11355,LH00995:48:23YTGFLT4:1:2210:9964:24008,LH00995:48:23YTGFLT4:1:2210:9964:24008,LH00995:48:23YTGFLT4:1:2453:23506:8427,LH00995:48:23YTGFLT4:1:2483:37292:14172,LH00995:48:23YTGFLT4:2:1166:38408:3018,LH00995:48:23YTGFLT4:2:1166:38408:3018,LH00995:48:23YTGFLT4:2:1166:38424:3018,LH00995:48:23YTGFLT4:2:1166:38424:3018,LH00995:48:23YTGFLT4:2:1177:40681:22201,LH00995:48:23YTGFLT4:2:1177:40681:22201,LH00995:48:23YTGFLT4:2:1177:40681:22201,LH00995:48:23YTGFLT4:3:1241:4374:8300,LH00995:48:23YTGFLT4:3:1241:4390:8300,LH00995:48:23YTGFLT4:3:1265:9883:17394,LH00995:48:23YTGFLT4:3:1275:45988:11691,LH00995:48:23YTGFLT4:3:1298:19122:19440,LH00995:48:23YTGFLT4:3:1479:22625:27637,LH00995:48:23YTGFLT4:3:1479:22625:27637,LH00995:48:23YTGFLT4:3:1479:22641:27637,LH00995:48:23YTGFLT4:3:1479:22641:27637,LH00995:48:23YTGFLT4:3:2169:3233:4111,LH00995:48:23YTGFLT4:3:2305:38530:19987,LH00995:48:23YTGFLT4:3:2429:4689:8146,LH00995:48:23YTGFLT4:4:1165:46069:15559,LH00995:48:23YTGFLT4:4:1454:5466:3074,LH00995:48:23YTGFLT4:4:1454:5466:3074,LH00995:48:23YTGFLT4:4:2344:8750:21542,LH00995:48:23YTGFLT4:5:1318:18135:9716,LH00995:48:23YTGFLT4:5:1318:18143:9730,LH00995:48:23YTGFLT4:5:1372:41046:21094,LH00995:48:23YTGFLT4:5:1392:47922:22046,LH00995:48:23YTGFLT4:5:1392:47930:22032,LH00995:48:23YTGFLT4:6:1224:25383:11621,LH00995:48:23YTGFLT4:6:1224:25391:11635,LH00995:48:23YTGFLT4:6:1320:26710:15265,LH00995:48:23YTGFLT4:6:1320:26710:15265,LH00995:48:23YTGFLT4:6:1476:26257:15657,LH00995:48:23YTGFLT4:6:2236:36677:15208,LH00995:48:23YTGFLT4:6:2256:29258:26320,LH00995:48:23YTGFLT4:6:2256:29258:26320,LH00995:48:23YTGFLT4:7:1208:35649:20491,LH00995:48:23YTGFLT4:7:1291:1251:11103,LH00995:48:23YTGFLT4:7:2193:7707:18641,LH00995:48:23YTGFLT4:7:2469:26378:9562,LH00995:48:23YTGFLT4:7:2469:26378:9562,LH00995:48:23YTGFLT4:8:1157:15279:15194,LH00995:48:23YTGFLT4:8:1241:24396:12798,LH00995:48:23YTGFLT4:8:1290:22770:23574,LH00995:48:23YTGFLT4:8:1290:22778:23588,LH00995:48:23YTGFLT4:8:1296:5749:8048,LH00995:48:23YTGFLT4:8:1296:5757:8062,LH00995:48:23YTGFLT4:8:1317:27568:15293,LH00995:48:23YTGFLT4:8:1325:18118:26026,LH00995:48:23YTGFLT4:8:1325:18118:26026,LH00995:48:23YTGFLT4:8:1325:18127:26012,LH00995:48:23YTGFLT4:8:1325:18127:26012,LH00995:48:23YTGFLT4:6:1320:26710:15265,LH00995:48:23YTGFLT4:6:2256:29258:26320,LH00995:48:23YTGFLT4:1:1349:11210:5176,LH00995:48:23YTGFLT4:1:1445:36523:25956,LH00995:48:23YTGFLT4:1:1445:36523:25956,LH00995:48:23YTGFLT4:1:2243:1542:27609,LH00995:48:23YTGFLT4:1:2243:1542:27609,LH00995:48:23YTGFLT4:2:1123:49095:29291,LH00995:48:23YTGFLT4:2:1363:20651:14942,LH00995:48:23YTGFLT4:2:2225:14284:25774,LH00995:48:23YTGFLT4:2:2225:14284:25774,LH00995:48:23YTGFLT4:2:2241:45099:2752,LH00995:48:23YTGFLT4:2:2241:45099:2752,LH00995:48:23YTGFLT4:3:2212:22665:23336,LH00995:48:23YTGFLT4:3:2249:4859:16315,LH00995:48:23YTGFLT4:3:2344:5692:18151,LH00995:48:23YTGFLT4:3:2344:5692:18151,LH00995:48:23YTGFLT4:3:2412:34290:7908,LH00995:48:23YTGFLT4:3:2412:34290:7908,LH00995:48:23YTGFLT4:3:2482:24501:7516,LH00995:48:23YTGFLT4:3:2482:24501:7516,LH00995:48:23YTGFLT4:4:1220:21427:13037,LH00995:48:23YTGFLT4:4:2151:9616:20155,LH00995:48:23YTGFLT4:4:2151:9616:20155,LH00995:48:23YTGFLT4:4:2291:34209:4713,LH00995:48:23YTGFLT4:5:1234:33320:6199,LH00995:48:23YTGFLT4:5:1234:33320:6199,LH00995:48:23YTGFLT4:5:1236:45649:25339,LH00995:48:23YTGFLT4:5:1236:45649:25339,LH00995:48:23YTGFLT4:5:1333:16589:9029,LH00995:48:23YTGFLT4:5:1333:16589:9029,LH00995:48:23YTGFLT4:5:1333:47865:22117,LH00995:48:23YTGFLT4:5:1388:24607:15713,LH00995:48:23YTGFLT4:5:1388:24607:15713,LH00995:48:23YTGFLT4:5:1439:12779:15040,LH00995:48:23YTGFLT4:5:1439:12779:15040,LH00995:48:23YTGFLT4:5:1477:6428:8637,LH00995:48:23YTGFLT4:5:1493:3354:22705,LH00995:48:23YTGFLT4:5:2225:8427:17338,LH00995:48:23YTGFLT4:5:2225:8427:17338,LH00995:48:23YTGFLT4:5:2225:8597:17492,LH00995:48:23YTGFLT4:5:2225:8597:17492,LH00995:48:23YTGFLT4:5:2306:38538:29641,LH00995:48:23YTGFLT4:5:2306:38538:29641,LH00995:48:23YTGFLT4:6:1113:40293:25732,LH00995:48:23YTGFLT4:6:1113:40293:25732,LH00995:48:23YTGFLT4:6:1216:36369:3634,LH00995:48:23YTGFLT4:7:1132:20238:15517,LH00995:48:23YTGFLT4:7:1315:50592:15152,LH00995:48:23YTGFLT4:7:1315:50592:15152,LH00995:48:23YTGFLT4:8:1107:46086:26320,LH00995:48:23YTGFLT4:8:1107:46086:26320,LH00995:48:23YTGFLT4:8:1114:10490:2780,LH00995:48:23YTGFLT4:8:1430:35738:23336,LH00995:48:23YTGFLT4:8:1430:35738:23336,LH00995:48:23YTGFLT4:8:1481:26249:20491,LH00995:48:23YTGFLT4:8:1481:26249:20491,LH00995:48:23YTGFLT4:1:1349:11210:5176,LH00995:48:23YTGFLT4:1:1445:36523:25956,LH00995:48:23YTGFLT4:1:2243:1542:27609,LH00995:48:23YTGFLT4:2:1363:20651:14942,LH00995:48:23YTGFLT4:2:2225:14284:25774,LH00995:48:23YTGFLT4:3:1228:42113:18319,LH00995:48:23YTGFLT4:3:1228:42113:18319,LH00995:48:23YTGFLT4:3:2212:22665:23336,LH00995:48:23YTGFLT4:3:2249:4859:16315,LH00995:48:23YTGFLT4:3:2344:5692:18151,LH00995:48:23YTGFLT4:3:2353:32842:14844,LH00995:48:23YTGFLT4:3:2353:32842:14844,LH00995:48:23YTGFLT4:3:2412:34290:7908,LH00995:48:23YTGFLT4:3:2482:24501:7516,LH00995:48:23YTGFLT4:4:2291:34209:4713,LH00995:48:23YTGFLT4:5:1157:2400:8244,LH00995:48:23YTGFLT4:5:1157:2400:8244,LH00995:48:23YTGFLT4:5:1178:25424:9001,LH00995:48:23YTGFLT4:5:1178:25440:9001,LH00995:48:23YTGFLT4:5:1234:33320:6199,LH00995:48:23YTGFLT4:5:1236:45649:25339,LH00995:48:23YTGFLT4:5:1333:16589:9029,LH00995:48:23YTGFLT4:5:1388:24607:15713,LH00995:48:23YTGFLT4:5:1439:12779:15040,LH00995:48:23YTGFLT4:5:1477:6428:8637,LH00995:48:23YTGFLT4:5:1493:3354:22705,LH00995:48:23YTGFLT4:5:2225:8427:17338,LH00995:48:23YTGFLT4:5:2225:8597:17492,LH00995:48:23YTGFLT4:5:2263:35957:14802,LH00995:48:23YTGFLT4:5:2263:35957:14802,LH00995:48:23YTGFLT4:5:2306:38538:29641,LH00995:48:23YTGFLT4:6:1113:40293:25732,LH00995:48:23YTGFLT4:6:1216:36369:3634,LH00995:48:23YTGFLT4:6:2161:19308:18782,LH00995:48:23YTGFLT4:6:2161:19308:18782,LH00995:48:23YTGFLT4:7:1315:50592:15152,LH00995:48:23YTGFLT4:8:1107:46086:26320,LH00995:48:23YTGFLT4:8:1114:10490:2780,LH00995:48:23YTGFLT4:8:1430:35738:23336,LH00995:48:23YTGFLT4:8:1481:26249:20491,LH00995:48:23YTGFLT4:4:2151:9616:20155

LINC01947(146986),AC091819.2(42962)

TENM2

./+

+/+

chr5:167073356

chr5:167284764

intergenic

deletion/read-through

277

medium

|GHH_signature_containing_HNH/Endo_VII_superfamily_nuclease_toxin(100%),Teneurin_Intracellular_Region(100%)

ENSG00000145934.16

ENST00000518659.5

downstream

upstream

duplicates(30)

GTTACATCCAGCTTTTTAATTGCCTAAGCGGTCTGGGGCTTGCTTCGTCATTTGGCTTTGCTGTGGAGCACTCCTGTAAAGCCAGCTGAATTGTACATCGAAGATCCACCCTTTTG|GTGGCAAAGTGACAAGTGCCAAAACTCAGGCCTGACTTTTCTGAAAACATCAGCATTCTGCCATATCTGGAATAATGGATGTAAAGGACCGGCGACACCGCTCTTTGACCAGAGGACGCTGTGGCAAAGAGTGTCGCTACACAAGCTCCTCTCTGGACAGTGAGGACTGCCGCGTGCCCACACAGAAATCCT

LH00995:48:23YTGFLT4:2:1359:7626:1462,LH00995:48:23YTGFLT4:8:1459:29857:13233,LH00995:48:23YTGFLT4:1:1281:16727:23504,LH00995:48:23YTGFLT4:1:1311:12358:3158,LH00995:48:23YTGFLT4:1:1375:1105:8861,LH00995:48:23YTGFLT4:1:1451:12391:6857,LH00995:48:23YTGFLT4:1:2158:9082:9842,LH00995:48:23YTGFLT4:1:2233:4875:1855,LH00995:48:23YTGFLT4:1:2242:25108:25830,LH00995:48:23YTGFLT4:1:2242:25124:25830,LH00995:48:23YTGFLT4:1:2310:50907:28898,LH00995:48:23YTGFLT4:1:2318:34574:8651,LH00995:48:23YTGFLT4:1:2318:34614:15447,LH00995:48:23YTGFLT4:1:2384:5619:7376,LH00995:48:23YTGFLT4:1:2384:5636:7376,LH00995:48:23YTGFLT4:1:2413:20982:9127,LH00995:48:23YTGFLT4:1:2474:13135:26502,LH00995:48:23YTGFLT4:2:1103:22916:15307,LH00995:48:23YTGFLT4:2:1119:48747:24148,LH00995:48:23YTGFLT4:2:1175:25343:6311,LH00995:48:23YTGFLT4:2:1336:15716:22341,LH00995:48:23YTGFLT4:2:1428:26791:15040,LH00995:48:23YTGFLT4:2:2392:6347:9562,LH00995:48:23YTGFLT4:2:2423:36450:16133,LH00995:48:23YTGFLT4:3:1168:47833:24891,LH00995:48:23YTGFLT4:3:1168:47841:24905,LH00995:48:23YTGFLT4:3:1244:33360:13107,LH00995:48:23YTGFLT4:3:1326:48909:5764,LH00995:48:23YTGFLT4:3:1326:48917:5750,LH00995:48:23YTGFLT4:3:1351:15716:25423,LH00995:48:23YTGFLT4:3:1401:41482:22747,LH00995:48:23YTGFLT4:3:1427:34120:15461,LH00995:48:23YTGFLT4:3:1448:32769:6283,LH00995:48:23YTGFLT4:3:2196:30626:4923,LH00995:48:23YTGFLT4:3:2317:23838:18109,LH00995:48:23YTGFLT4:3:2422:41927:23686,LH00995:48:23YTGFLT4:4:1132:16743:14087,LH00995:48:23YTGFLT4:4:1244:36523:4349,LH00995:48:23YTGFLT4:4:1317:13281:10949,LH00995:48:23YTGFLT4:4:2165:29897:13919,LH00995:48:23YTGFLT4:4:2271:32341:28632,LH00995:48:23YTGFLT4:4:2293:32130:6857,LH00995:48:23YTGFLT4:4:2393:2464:21640,LH00995:48:23YTGFLT4:5:1134:25003:20267,LH00995:48:23YTGFLT4:5:1150:32252:16988,LH00995:48:23YTGFLT4:5:1156:15344:7712,LH00995:48:23YTGFLT4:5:1348:9656:11089,LH00995:48:23YTGFLT4:5:1361:13920:3144,LH00995:48:23YTGFLT4:5:1386:11388:12574,LH00995:48:23YTGFLT4:5:1448:40924:23602,LH00995:48:23YTGFLT4:5:1474:25464:26502,LH00995:48:23YTGFLT4:5:1478:37106:23238,LH00995:48:23YTGFLT4:5:2272:1097:1364,LH00995:48:23YTGFLT4:5:2387:3200:24092,LH00995:48:23YTGFLT4:5:2414:3476:7249,LH00995:48:23YTGFLT4:6:1286:22851:14914,LH00995:48:23YTGFLT4:6:1377:7496:2527,LH00995:48:23YTGFLT4:6:1441:29380:25914,LH00995:48:23YTGFLT4:6:1451:30019:12140,LH00995:48:23YTGFLT4:6:1483:40334:10332,LH00995:48:23YTGFLT4:6:2115:6995:11551,LH00995:48:23YTGFLT4:6:2177:45010:29585,LH00995:48:23YTGFLT4:6:2177:45018:29599,LH00995:48:23YTGFLT4:6:2177:45026:29585,LH00995:48:23YTGFLT4:6:2235:43545:25676,LH00995:48:23YTGFLT4:6:2286:15489:8749,LH00995:48:23YTGFLT4:6:2357:16598:25606,LH00995:48:23YTGFLT4:7:1121:14810:21192,LH00995:48:23YTGFLT4:7:1355:31014:22018,LH00995:48:23YTGFLT4:7:1407:5886:1140,LH00995:48:23YTGFLT4:7:1407:5894:1126,LH00995:48:23YTGFLT4:7:1443:30520:22032,LH00995:48:23YTGFLT4:7:2343:11638:12504,LH00995:48:23YTGFLT4:8:1235:27592:24330,LH00995:48:23YTGFLT4:8:1356:50770:1532,LH00995:48:23YTGFLT4:8:1395:27284:18613,LH00995:48:23YTGFLT4:8:1395:27293:18627,LH00995:48:23YTGFLT4:8:1398:15263:20239,LH00995:48:23YTGFLT4:8:1411:13111:9590,LH00995:48:23YTGFLT4:8:1470:11468:3802,LH00995:48:23YTGFLT4:8:2119:30456:20183,LH00995:48:23YTGFLT4:8:2123:46150:28926,LH00995:48:23YTGFLT4:3:2259:7456:8763,LH00995:48:23YTGFLT4:6:1318:16209:20085,LH00995:48:23YTGFLT4:6:1419:19858:16708,LH00995:48:23YTGFLT4:6:1419:19866:16722,LH00995:48:23YTGFLT4:6:1419:19874:16708

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1766

158

medium

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(23),mismappers(1)

CGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACTCCTGGGTGGAGCTTCCCCAATGCATCGTCATTC

RQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|agyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00995:48:23YTGFLT4:1:1218:36903:12574,LH00995:48:23YTGFLT4:1:1293:18515:2471,LH00995:48:23YTGFLT4:1:1329:51765:19566,LH00995:48:23YTGFLT4:1:1363:3589:28997,LH00995:48:23YTGFLT4:1:2110:26395:21752,LH00995:48:23YTGFLT4:1:2134:2877:15377,LH00995:48:23YTGFLT4:1:2176:11509:17885,LH00995:48:23YTGFLT4:1:2295:15975:24919,LH00995:48:23YTGFLT4:1:2454:2294:2738,LH00995:48:23YTGFLT4:1:2454:2311:2738,LH00995:48:23YTGFLT4:2:2211:4932:27567,LH00995:48:23YTGFLT4:2:2356:35156:11229,LH00995:48:23YTGFLT4:2:2365:44427:24485,LH00995:48:23YTGFLT4:3:1124:16371:9576,LH00995:48:23YTGFLT4:3:1221:21718:23406,LH00995:48:23YTGFLT4:3:2217:32001:26418,LH00995:48:23YTGFLT4:3:2266:44006:14312,LH00995:48:23YTGFLT4:3:2266:44532:14158,LH00995:48:23YTGFLT4:3:2387:32850:12392,LH00995:48:23YTGFLT4:4:1128:8605:29025,LH00995:48:23YTGFLT4:4:1141:11857:11481,LH00995:48:23YTGFLT4:4:1141:11865:11467,LH00995:48:23YTGFLT4:4:1289:29323:27497,LH00995:48:23YTGFLT4:4:1397:33457:13751,LH00995:48:23YTGFLT4:4:2113:45002:10963,LH00995:48:23YTGFLT4:4:2438:51538:9113,LH00995:48:23YTGFLT4:5:1179:7553:27483,LH00995:48:23YTGFLT4:5:1343:5522:17885,LH00995:48:23YTGFLT4:5:1343:5538:17885,LH00995:48:23YTGFLT4:5:1364:45479:13667,LH00995:48:23YTGFLT4:5:2265:25941:6311,LH00995:48:23YTGFLT4:6:1240:40463:17506,LH00995:48:23YTGFLT4:6:1463:41846:3929,LH00995:48:23YTGFLT4:6:2306:35819:16666,LH00995:48:23YTGFLT4:7:1462:50996:26727,LH00995:48:23YTGFLT4:7:2417:24866:8034,LH00995:48:23YTGFLT4:1:1140:2011:11803,LH00995:48:23YTGFLT4:1:1352:13038:27595,LH00995:48:23YTGFLT4:1:2258:22649:10192,LH00995:48:23YTGFLT4:1:2258:5183:18305,LH00995:48:23YTGFLT4:1:2346:18086:14396,LH00995:48:23YTGFLT4:1:2369:18240:19903,LH00995:48:23YTGFLT4:2:1192:8702:25045,LH00995:48:23YTGFLT4:2:2149:11088:9421,LH00995:48:23YTGFLT4:2:2234:42397:14354,LH00995:48:23YTGFLT4:2:2310:36329:12924,LH00995:48:23YTGFLT4:3:1476:2003:29221,LH00995:48:23YTGFLT4:3:2391:17641:20911,LH00995:48:23YTGFLT4:3:2394:39201:10668,LH00995:48:23YTGFLT4:3:2419:45802:16245,LH00995:48:23YTGFLT4:4:1188:11452:19244,LH00995:48:23YTGFLT4:4:1188:11460:19230,LH00995:48:23YTGFLT4:4:1255:51336:9183,LH00995:48:23YTGFLT4:4:1289:40657:17591,LH00995:48:23YTGFLT4:4:1430:19825:9814,LH00995:48:23YTGFLT4:4:1440:37356:23840,LH00995:48:23YTGFLT4:4:2168:38497:5862,LH00995:48:23YTGFLT4:4:2310:5894:16231,LH00995:48:23YTGFLT4:4:2379:23159:2611,LH00995:48:23YTGFLT4:5:1323:27956:28912,LH00995:48:23YTGFLT4:5:2118:43642:29627,LH00995:48:23YTGFLT4:5:2170:18871:17156,LH00995:48:23YTGFLT4:5:2253:22236:10402,LH00995:48:23YTGFLT4:5:2262:37276:6493,LH00995:48:23YTGFLT4:5:2267:4050:16876,LH00995:48:23YTGFLT4:5:2392:37591:22593,LH00995:48:23YTGFLT4:6:2117:45163:4405,LH00995:48:23YTGFLT4:6:2203:45641:21430,LH00995:48:23YTGFLT4:6:2371:36240:2093,LH00995:48:23YTGFLT4:7:1191:1413:7992,LH00995:48:23YTGFLT4:7:1479:24437:2387,LH00995:48:23YTGFLT4:7:2210:36078:8258,LH00995:48:23YTGFLT4:7:2265:2529:20015,LH00995:48:23YTGFLT4:8:1108:18596:8132,LH00995:48:23YTGFLT4:8:1279:14866:17787,LH00995:48:23YTGFLT4:8:1316:15190:7418,LH00995:48:23YTGFLT4:8:1421:24412:16021,LH00995:48:23YTGFLT4:8:1421:24429:16021

STX16

NPEPL1

+/+

chr20:58671297

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2145

158

low

out-of-frame

Syntaxin(99%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%)

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

GCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACTCCTGGGTGGAGCTTCC

QNTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQ|agyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00995:48:23YTGFLT4:4:2290:19267:29557,LH00995:48:23YTGFLT4:5:1240:25893:7600,LH00995:48:23YTGFLT4:6:1352:13580:23658,LH00995:48:23YTGFLT4:7:1236:10732:2527

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

5966

6106

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(37),low_entropy(3),mismappers(1)

GCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAGACCTTCTCTTCCTTTCCTTTCCTTTCCTCTCCT

PLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:48:23YTGFLT4:1:1150:5094:13667,LH00995:48:23YTGFLT4:1:1248:36280:4321,LH00995:48:23YTGFLT4:1:2189:28150:17899,LH00995:48:23YTGFLT4:1:2207:50883:14732,LH00995:48:23YTGFLT4:1:2211:37526:3228,LH00995:48:23YTGFLT4:1:2335:24954:22761,LH00995:48:23YTGFLT4:2:1144:22277:22943,LH00995:48:23YTGFLT4:2:1164:21160:16638,LH00995:48:23YTGFLT4:2:1412:19073:2962,LH00995:48:23YTGFLT4:2:1453:48731:26334,LH00995:48:23YTGFLT4:2:2120:4325:2079,LH00995:48:23YTGFLT4:2:2162:7197:28576,LH00995:48:23YTGFLT4:2:2240:13831:5512,LH00995:48:23YTGFLT4:3:1150:26645:27287,LH00995:48:23YTGFLT4:3:1228:26937:9295,LH00995:48:23YTGFLT4:3:1460:1526:5806,LH00995:48:23YTGFLT4:3:2285:9672:11986,LH00995:48:23YTGFLT4:3:2444:31815:10879,LH00995:48:23YTGFLT4:4:1274:5409:18866,LH00995:48:23YTGFLT4:4:1369:23110:4909,LH00995:48:23YTGFLT4:4:2282:49136:25662,LH00995:48:23YTGFLT4:5:1115:20206:1729,LH00995:48:23YTGFLT4:5:1142:33061:8945,LH00995:48:23YTGFLT4:5:1438:34387:9449,LH00995:48:23YTGFLT4:5:2362:32163:19748,LH00995:48:23YTGFLT4:5:2427:10231:2247,LH00995:48:23YTGFLT4:6:1156:48132:6325,LH00995:48:23YTGFLT4:6:1310:10312:29683,LH00995:48:23YTGFLT4:6:1310:10320:29697,LH00995:48:23YTGFLT4:6:1329:18806:18473,LH00995:48:23YTGFLT4:6:2334:27228:2597,LH00995:48:23YTGFLT4:7:1440:1938:8511,LH00995:48:23YTGFLT4:8:1155:24728:7348,LH00995:48:23YTGFLT4:1:1120:25755:9800,LH00995:48:23YTGFLT4:1:1227:31613:28800,LH00995:48:23YTGFLT4:1:1240:22827:24905,LH00995:48:23YTGFLT4:1:1355:23620:24373,LH00995:48:23YTGFLT4:1:1393:14672:23392,LH00995:48:23YTGFLT4:1:1431:27462:26488,LH00995:48:23YTGFLT4:2:1109:47461:14242,LH00995:48:23YTGFLT4:2:1122:4495:11201,LH00995:48:23YTGFLT4:2:1261:51126:9968,LH00995:48:23YTGFLT4:2:1261:51142:9968,LH00995:48:23YTGFLT4:2:1326:33821:23322,LH00995:48:23YTGFLT4:2:1326:33829:23308,LH00995:48:23YTGFLT4:2:1332:27017:11089,LH00995:48:23YTGFLT4:2:1332:27034:11089,LH00995:48:23YTGFLT4:2:1495:15360:2219,LH00995:48:23YTGFLT4:2:2283:44646:10514,LH00995:48:23YTGFLT4:2:2486:10627:21850,LH00995:48:23YTGFLT4:3:1356:36839:6213,LH00995:48:23YTGFLT4:3:1364:28975:27343,LH00995:48:23YTGFLT4:3:1364:28983:27329,LH00995:48:23YTGFLT4:3:2404:32009:22509,LH00995:48:23YTGFLT4:4:1281:28360:21234,LH00995:48:23YTGFLT4:4:1448:10627:6128,LH00995:48:23YTGFLT4:4:2219:47898:23041,LH00995:48:23YTGFLT4:4:2367:30003:25536,LH00995:48:23YTGFLT4:4:2434:37907:6269,LH00995:48:23YTGFLT4:5:1455:47566:23980,LH00995:48:23YTGFLT4:6:1253:40503:14270,LH00995:48:23YTGFLT4:6:1314:40107:21374,LH00995:48:23YTGFLT4:6:1434:40673:13135,LH00995:48:23YTGFLT4:6:2228:47720:25199,LH00995:48:23YTGFLT4:6:2256:13669:18151,LH00995:48:23YTGFLT4:6:2301:27495:18277,LH00995:48:23YTGFLT4:6:2342:27381:9085,LH00995:48:23YTGFLT4:6:2410:17188:14634,LH00995:48:23YTGFLT4:6:2461:50098:20968,LH00995:48:23YTGFLT4:7:1235:37607:18501,LH00995:48:23YTGFLT4:7:1235:37615:18515,LH00995:48:23YTGFLT4:7:1356:5352:22971,LH00995:48:23YTGFLT4:7:2257:14696:8917,LH00995:48:23YTGFLT4:7:2388:17908:8286,LH00995:48:23YTGFLT4:7:2388:17924:8286,LH00995:48:23YTGFLT4:7:2423:29582:15251,LH00995:48:23YTGFLT4:8:1194:1502:9968

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

5966

5258

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(8)

GCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGCGGCTGCTATCGGTGCGGGAAAGAGGGG

RPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gKRMHVQLSTSRLRTAPGMGDQSGCYRCGKE

LH00995:48:23YTGFLT4:1:2306:13904:11747,LH00995:48:23YTGFLT4:1:2380:42275:23336,LH00995:48:23YTGFLT4:2:1154:18798:7642,LH00995:48:23YTGFLT4:5:2428:14955:4489,LH00995:48:23YTGFLT4:6:1133:47938:24709,LH00995:48:23YTGFLT4:6:1208:5385:12266,LH00995:48:23YTGFLT4:6:2208:16112:7782,LH00995:48:23YTGFLT4:7:1167:35617:19510,LH00995:48:23YTGFLT4:7:1481:43084:3943,LH00995:48:23YTGFLT4:8:1202:23045:3564,LH00995:48:23YTGFLT4:2:1337:36645:22579,LH00995:48:23YTGFLT4:2:2354:37187:21724,LH00995:48:23YTGFLT4:3:1182:4050:15979,LH00995:48:23YTGFLT4:4:2229:49297:7642,LH00995:48:23YTGFLT4:6:2347:27996:23546,LH00995:48:23YTGFLT4:7:1291:20036:11383

RBM14

RBM4

+/+

chr11:66617057

chr11:66665856

CDS/splice-site

deletion/read-through

5966

829

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(3)

GTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAGATAACCCCTGTGACAGAAGGCTACTGTTGCTGTAACAAAGGGCATACATACATTTTCAAGAACTGCAATTTAATTTTG

VSAACTSQELRSLFERRGRVIECDVVK|gKITPVTEGYCCCNKGHTYIFKNCNLI

LH00995:48:23YTGFLT4:2:2175:38602:19692,LH00995:48:23YTGFLT4:5:1255:3233:27904,LH00995:48:23YTGFLT4:3:1159:35407:15867,LH00995:48:23YTGFLT4:3:1394:2108:10430,LH00995:48:23YTGFLT4:5:1305:4835:22943,LH00995:48:23YTGFLT4:5:2337:1647:24092

RBM14

RBM4

+/+

chr11:66625678

chr11:66652277

CDS/splice-site

deletion/read-through

1507

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)(1%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000578778.5

downstream

upstream

CTCCCCACCCCGGGCCAGCTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|TAGAGACGGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGC

SPPRASYDDPYKKAVAMSKs|rdgvspc*

LH00995:48:23YTGFLT4:1:2461:12739:20911

RBM14

RBM4

+/+

chr11:66625678

chr11:66646027

CDS/splice-site

deletion/read-through

1507

6106

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)(2%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000398692.8

downstream

upstream

ACAGCACCCCGCCGCCCTATGAGCGTACCCGCCTCTCCCCACCCCGGGCCAGtTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCA

STPPPYERTRLSPPRASYDDPYKKAVAMSKr|wdvcglkfraavvhentpfvvphlrdvlgsvrsvp

LH00995:48:23YTGFLT4:2:1155:30585:7544

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

5966

7202

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(246),read_through(354)

CTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGC

LNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

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23YTGFLT4:4:2436:48278:3550,LH00995:48:23YTGFLT4:4:2440:52072:8609,LH00995:48:23YTGFLT4:4:2491:38894:23644,LH00995:48:23YTGFLT4:5:1106:42615:10753,LH00995:48:23YTGFLT4:5:1109:15158:9519,LH00995:48:23YTGFLT4:5:1133:18499:12700,LH00995:48:23YTGFLT4:5:1144:42704:12196,LH00995:48:23YTGFLT4:5:1144:42712:12210,LH00995:48:23YTGFLT4:5:1146:3743:21864,LH00995:48:23YTGFLT4:5:1148:48124:2163,LH00995:48:23YTGFLT4:5:1159:38732:12770,LH00995:48:23YTGFLT4:5:1171:7375:4699,LH00995:48:23YTGFLT4:5:1182:1073:6871,LH00995:48:23YTGFLT4:5:1233:16185:25367,LH00995:48:23YTGFLT4:5:1258:34557:28800,LH00995:48:23YTGFLT4:5:1260:12197:15293,LH00995:48:23YTGFLT4:5:1296:50681:24807,LH00995:48:23YTGFLT4:5:1297:12059:28870,LH00995:48:23YTGFLT4:5:1324:2011:22957,LH00995:48:23YTGFLT4:5:1338:12682:13219,LH00995:48:23YTGFLT4:5:1347:50252:1981,LH00995:48:23YTGFLT4:5:1349:13790:18417,LH00995:48:23YTGFLT4:5:1349:13798:18431,LH00995:48:23YTGFLT4:5:1352:49977:28997,LH00995:48:23YTGFLT4:5:1357:12213:15180,LH00995:48:23YTGFLT4:5:1387:10417:2401,LH00995:48:23YTGFLT4:5:1396:49281:26755,LH00995:48:23YTGFLT4:5:1446:20020:7123,LH00995:48:23YTGFLT4:5:1460:37890:20393,LH00995:48:23YTGFLT4:5:1474:7456:25017,LH00995:48:23YTGFLT4:5:2176:20934:10332,LH00995:48:23YTGFLT4:5:2210:18774:12112,LH00995:48:23YTGFLT4:5:2222:46781:1546,LH00995:48:23YTGFLT4:5:2267:1631:16638,LH00995:48:23YTGFLT4:5:2280:19745:19987,LH00995:48:23YTGFLT4:5:2284:40617:16540,LH00995:48:23YTGFLT4:5:2291:50996:6493,LH00995:48:23YTGFLT4:5:2302:5223:14732,LH00995:48:23YTGFLT4:5:2305:10287:2205,LH00995:48:23YTGFLT4:5:2338:17819:16119,LH00995:48:23YTGFLT4:5:2352:19615:13037,LH00995:48:23YTGFLT4:5:2360:14413:14340,LH00995:48:23YTGFLT4:5:2360:20982:22551,LH00995:48:23YTGFLT4:5:2372:18515:9365,LH00995:48:23YTGFLT4:5:2374:29663:22313,LH00995:48:23YTGFLT4:5:2376:34468:14858,LH00995:48:23YTGFLT4:5:2408:20926:7740,LH00995:48:23YTGFLT4:5:2449:43076:5358,LH00995:48:23YTGFLT4:5:2451:27705:14662,LH00995:48:23YTGFLT4:5:2455:14421:3144,LH00995:48:23YTGFLT4:5:2470:16953:17450,LH00995:48:23YTGFLT4:5:2470:39387:18838,LH00995:48:23YTGFLT4:5:2475:30569:16007,LH00995:48:23YTGFLT4:5:2489:43028:13569,LH00995:48:23YTGFLT4:5:2491:10498:3074,LH00995:48:23YTGFLT4:5:2491:31281:17324,LH00995:48:23YTGFLT4:5:2498:15878:3480,LH00995:48:23YTGFLT4:6:1108:41466:10360,LH00995:48:23YTGFLT4:6:1135:15505:19426,LH00995:48:23YTGFLT4:6:1151:36903:12938,LH00995:48:23YTGFLT4:6:1155:14098:25648,LH00995:48:23YTGFLT4:6:1162:50228:1827,LH00995:48:23YTGFLT4:6:1171:35795:8721,LH00995:48:23YTGFLT4:6:1180:1283:16652,LH00995:48:23YTGFLT4:6:1186:44581:29431,LH00995:48:23YTGFLT4:6:1207:4285:8427,LH00995:48:23YTGFLT4:6:1231:42081:11313,LH00995:48:23YTGFLT4:6:1276:28368:18137,LH00995:48:23YTGFLT4:6:1282:49459:2289,LH00995:48:23YTGFLT4:6:1295:6461:22873,LH00995:48:23YTGFLT4:6:1315:27818:11691,LH00995:48:23YTGFLT4:6:1381:20554:27077,LH00995:48:23YTGFLT4:6:1387:17876:22943,LH00995:48:23YTGFLT4:6:1391:15287:24877,LH00995:48:23YTGFLT4:6:1394:31176:18011,LH00995:48:23YTGFLT4:6:1394:31613:23448,LH00995:48:23YTGFLT4:6:1394:47954:17815,LH00995:48:23YTGFLT4:6:1402:4899:15236,LH00995:48:23YTGFLT4:6:1402:4907:15251,LH00995:48:23YTGFLT4:6:1456:35455:7852,LH00995:48:23YTGFLT4:6:1458:46029:19048,LH00995:48:23YTGFLT4:6:1474:9155:12546,LH00995:48:23YTGFLT4:6:1490:33870:6731,LH00995:48:23YTGFLT4:6:1491:40156:17058,LH00995:48:23YTGFLT4:6:1494:46781:12112,LH00995:48:23YTGFLT4:6:2102:17746:1701,LH00995:48:23YTGFLT4:6:2118:31127:13303,LH00995:48:23YTGFLT4:6:2142:40997:2738,LH00995:48:23YTGFLT4:6:2150:38311:29501,LH00995:48:23YTGFLT4:6:2151:48229:2429,LH00995:48:23YTGFLT4:6:2159:32826:17506,LH00995:48:23YTGFLT4:6:2191:3152:15517,LH00995:48:23YTGFLT4:6:2193:39800:1645,LH00995:48:23YTGFLT4:6:2204:13127:17885

RBM14

RBM4

+/+

chr11:66624324

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

5246

7202

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

ENST00000393979.3

ENST00000396053.9

downstream

upstream

read_through(1)

GCAAAGAAGTGAAGGGCAAGCGCATCAACGTGGAACTCTCCACCAAGG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGAC

KEVKGKRINVELSTK|gscqdgeavhrkpapggyragdsltlravwegagm*

LH00995:48:23YTGFLT4:7:1293:43432:13933

RBM14

RBM4

+/+

chr11:66624324

chr11:66643450

CDS/splice-site

deletion/read-through

5246

5258

low

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(99%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(6%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000393979.3

ENST00000408993.6

downstream

upstream

low_entropy(1)

CTCCACCAAGG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGCGGCTGCTATCGGTGCGGGAAAGAGGGGCACTGGTCCAAAGAGTGTCCGATAGATCGTTCAGGCCGCGTGGCAGACTTGACCGAGCAATATAATGAGCAATACGGAGCAGTGCGTACGCCTTACACCATGAGCTATGGGGATTC

STK|gKRMHVQLSTSRLRTAPGMGDQSGCYRCGKEGHWSKECPIDRSGRVADLTEQYNEQYGAVRTPYTMSYGD

LH00995:48:23YTGFLT4:5:2313:13758:9674

RBM14

RBM4

+/+

chr11:66625678

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1507

7202

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(4)

AGCGTACCCGCCTCTCCCCACCCCGGGCCAGCTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAG

RTRLSPPRASYDDPYKKAVAMSKr|llsgw*

LH00995:48:23YTGFLT4:7:2253:38554:12966,LH00995:48:23YTGFLT4:2:1460:37996:3200,LH00995:48:23YTGFLT4:3:1364:29315:7754,LH00995:48:23YTGFLT4:5:2205:11776:22327,LH00995:48:23YTGFLT4:7:2101:13200:25381

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

1723

4936

medium

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

duplicates(18),mismappers(4)

GGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAGAAGAAAAAGTGAAACGATCTGTGAAAGATGCTGCCAAGAAGGGCCAGAAGG

EGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQREEEKVKRSVKDAAKKGQK

LH00995:48:23YTGFLT4:1:2217:36175:23560,LH00995:48:23YTGFLT4:2:1403:10206:23728,LH00995:48:23YTGFLT4:2:2167:21338:9295,LH00995:48:23YTGFLT4:2:2251:13192:24302,LH00995:48:23YTGFLT4:2:2381:2440:6689,LH00995:48:23YTGFLT4:3:2419:48011:16596,LH00995:48:23YTGFLT4:4:1221:51878:2163,LH00995:48:23YTGFLT4:4:2144:22147:25578,LH00995:48:23YTGFLT4:4:2164:22374:2345,LH00995:48:23YTGFLT4:4:2437:38983:20099,LH00995:48:23YTGFLT4:5:2331:37114:20421,LH00995:48:23YTGFLT4:5:2407:46377:17436,LH00995:48:23YTGFLT4:6:1162:14114:23938,LH00995:48:23YTGFLT4:6:1178:28021:18347,LH00995:48:23YTGFLT4:6:1288:35480:29417,LH00995:48:23YTGFLT4:6:2336:23547:10711,LH00995:48:23YTGFLT4:6:2486:31249:6955,LH00995:48:23YTGFLT4:7:1444:35714:17633,LH00995:48:23YTGFLT4:7:1479:9794:27497,LH00995:48:23YTGFLT4:7:1479:9810:27497,LH00995:48:23YTGFLT4:7:2165:38748:6633,LH00995:48:23YTGFLT4:7:2417:27559:4994,LH00995:48:23YTGFLT4:7:2491:1712:9772,LH00995:48:23YTGFLT4:8:1142:50713:5498,LH00995:48:23YTGFLT4:8:1143:42963:6507,LH00995:48:23YTGFLT4:8:1334:24251:26614,LH00995:48:23YTGFLT4:1:1487:19542:21374,LH00995:48:23YTGFLT4:1:1487:19550:21388,LH00995:48:23YTGFLT4:1:2157:10117:8441,LH00995:48:23YTGFLT4:1:2183:38513:5722,LH00995:48:23YTGFLT4:1:2253:9972:28646,LH00995:48:23YTGFLT4:1:2402:51320:12210,LH00995:48:23YTGFLT4:2:1252:13596:17661,LH00995:48:23YTGFLT4:2:1429:10101:26685,LH00995:48:23YTGFLT4:2:2473:24348:14424,LH00995:48:23YTGFLT4:2:2473:24356:14410,LH00995:48:23YTGFLT4:2:2473:49224:23910,LH00995:48:23YTGFLT4:3:1233:29105:4447,LH00995:48:23YTGFLT4:3:1446:38068:14396,LH00995:48:23YTGFLT4:3:1446:38085:14396,LH00995:48:23YTGFLT4:3:2130:49613:25255,LH00995:48:23YTGFLT4:3:2149:42930:28786,LH00995:48:23YTGFLT4:3:2254:12399:3985,LH00995:48:23YTGFLT4:4:1111:31758:27063,LH00995:48:23YTGFLT4:4:2115:40770:23027,LH00995:48:23YTGFLT4:4:2353:4374:7628,LH00995:48:23YTGFLT4:4:2381:14470:16371,LH00995:48:23YTGFLT4:5:1157:32122:26797,LH00995:48:23YTGFLT4:5:1194:31952:9155,LH00995:48:23YTGFLT4:5:2208:13774:29543,LH00995:48:23YTGFLT4:6:1432:15716:19230,LH00995:48:23YTGFLT4:6:2416:4616:27301,LH00995:48:23YTGFLT4:7:1140:33902:28730,LH00995:48:23YTGFLT4:7:1478:44775:12981,LH00995:48:23YTGFLT4:7:2347:27438:24148,LH00995:48:23YTGFLT4:8:1262:38222:23378,LH00995:48:23YTGFLT4:8:1302:49718:24989

CT83

RNU6-154P(1463),SLC6A14(34190)

-/-

./-

chrX:116462782

chrX:116402416

CDS/splice-site

intergenic

deletion/read-through

2997

medium

out-of-frame

Kita-kyushu_lung_cancer_antigen_1(1%)|

ENSG00000204019.5

ENST00000371894.5

upstream

downstream

duplicates(13),mismatches(1)

GTCCGTCCCGAGAAGGGAGAAGAGGCCGAAGAGGAAACATGAACTTCTATTTACTCCTAGCGAGCAGCATTCTGTGTGCCTTGATTGTCTTCTGGAAATATCGCCGCTTTCAG|GTATCCTACAAACACTAATGCCAGAAAGTCACAATCCCACCAAAGGGGCAATTGATGCTGATGCCTGCCAGAAGCACTGCTTCAAGTTCCAGTGTTTACCCATATTAGCATCAAGTC

MNFYLLLASSILCALIVFWKYRRFQ|vsykh*

LH00995:48:23YTGFLT4:1:1107:39282:28072,LH00995:48:23YTGFLT4:2:2436:39864:12910,LH00995:48:23YTGFLT4:5:2458:31604:10234,LH00995:48:23YTGFLT4:6:1204:25836:14396,LH00995:48:23YTGFLT4:6:1390:14276:14746,LH00995:48:23YTGFLT4:6:1487:23870:29319,LH00995:48:23YTGFLT4:6:2145:10603:7936,LH00995:48:23YTGFLT4:6:2379:37049:7221,LH00995:48:23YTGFLT4:7:1310:21193:25746,LH00995:48:23YTGFLT4:8:1138:44006:16049,LH00995:48:23YTGFLT4:8:1138:44015:16063,LH00995:48:23YTGFLT4:8:2139:25068:18669,LH00995:48:23YTGFLT4:1:1261:39225:21892,LH00995:48:23YTGFLT4:1:1374:41280:17857,LH00995:48:23YTGFLT4:1:1458:51360:22369,LH00995:48:23YTGFLT4:1:2305:4252:17619,LH00995:48:23YTGFLT4:2:1263:26192:9547,LH00995:48:23YTGFLT4:3:1155:9859:16147,LH00995:48:23YTGFLT4:3:1310:1534:18936,LH00995:48:23YTGFLT4:3:1357:16905:6605,LH00995:48:23YTGFLT4:3:1421:48157:15587,LH00995:48:23YTGFLT4:3:2158:50228:15363,LH00995:48:23YTGFLT4:3:2234:45309:26937,LH00995:48:23YTGFLT4:4:1229:20448:15685,LH00995:48:23YTGFLT4:4:1241:8556:13555,LH00995:48:23YTGFLT4:4:1241:8564:13569,LH00995:48:23YTGFLT4:4:1293:9122:24120,LH00995:48:23YTGFLT4:4:1420:4107:9800,LH00995:48:23YTGFLT4:4:2331:46935:21514,LH00995:48:23YTGFLT4:5:1113:26945:25816,LH00995:48:23YTGFLT4:5:1398:34929:1476,LH00995:48:23YTGFLT4:5:2239:41248:6451,LH00995:48:23YTGFLT4:6:1249:51587:19903,LH00995:48:23YTGFLT4:6:1324:40649:15783,LH00995:48:23YTGFLT4:6:2126:43335:23770,LH00995:48:23YTGFLT4:6:2245:46741:19692,LH00995:48:23YTGFLT4:6:2362:19631:18585,LH00995:48:23YTGFLT4:6:2497:27600:18487,LH00995:48:23YTGFLT4:7:1171:7998:12448,LH00995:48:23YTGFLT4:7:1408:25173:19973,LH00995:48:23YTGFLT4:7:2227:22665:25606,LH00995:48:23YTGFLT4:8:1121:23377:22495,LH00995:48:23YTGFLT4:8:1214:10473:24134,LH00995:48:23YTGFLT4:8:1472:15465:10192

ZC3H3

AC105393.2(4098),AC105393.1(74)

-/-

./-

chr8:143538455

chr2:420983

CDS

intergenic

translocation

1801

127

medium

out-of-frame

ENSG00000014164.7

ENST00000262577.6

upstream

downstream

duplicates(74),mismatches(15),multimappers(20)

CCGGAAGCTGGGTTCTCATTCCGTGGCCAGCTGTGCTCCACAGCTCCTTGaGGACAGGAGAGTAGATGCTGGCCACACAGATCAGCCAGTTCCGTCTGGCTCAGTGGGGGGCCCCGCCAGACCGGCCTCAGGACCCAGGCAGGCCCGGGAGGCCTtGCTGGTTGTGACCTGTCGAACTAAC|CCACGTGAACCTCGTCCAGCCACAGGCCGCGCGCAGCAACGCCTCCAGGCAAACCCACGTGAACCTCGTCCAGCCACAGGCCGCGCGCAGCAACGCCTCCAGGCAAACCCACGTGAAC

RKLGSHSVASCAPQLLeDRRVDAGHTDQPVPSGSVGGPARPASGPRQAREAlLVVTCRTN|preprpatgraqqrlqanpreprpatgraqqrlqanpre

LH00995:48:23YTGFLT4:1:1134:46498:29137,LH00995:48:23YTGFLT4:1:1134:46498:29137,LH00995:48:23YTGFLT4:1:1134:46498:29137,LH00995:48:23YTGFLT4:1:1134:46498:29137,LH00995:48:23YTGFLT4:1:1134:46498:29137,LH00995:48:23YTGFLT4:1:1134:46498:29137,LH00995:48:23YTGFLT4:1:1134:46498:29137,LH00995:48:23YTGFLT4:1:1134:46498:29137,LH00995:48:23YTGFLT4:1:1134:46498:29137,LH00995:48:23YTGFLT4:1:1213:3937:21024,LH00995:48:23YTGFLT4:1:1213:3937:21024,LH00995:48:23YTGFLT4:1:1485:39897:28604,LH00995:48:23YTGFLT4:4:1276:20367:15433,LH00995:48:23YTGFLT4:4:1276:20367:15433,LH00995:48:23YTGFLT4:4:1276:20367:15433,LH00995:48:23YTGFLT4:4:1276:20367:15433,LH00995:48:23YTGFLT4:4:1276:20367:15433,LH00995:48:23YTGFLT4:4:1276:20367:15433,LH00995:48:23YTGFLT4:4:1276:20367:15433,LH00995:48:23YTGFLT4:4:1276:20367:15433,LH00995:48:23YTGFLT4:4:1276:20367:15433,LH00995:48:23YTGFLT4:4:1276:20367:15433,LH00995:48:23YTGFLT4:5:1252:49653:11621,LH00995:48:23YTGFLT4:5:1252:49653:11621,LH00995:48:23YTGFLT4:5:1252:49653:11621,LH00995:48:23YTGFLT4:5:1252:49653:11621,LH00995:48:23YTGFLT4:5:1252:49653:11621,LH00995:48:23YTGFLT4:5:1252:49653:11621,LH00995:48:23YTGFLT4:5:1252:49653:11621,LH00995:48:23YTGFLT4:5:1252:49653:11621,LH00995:48:23YTGFLT4:5:1252:49653:11621,LH00995:48:23YTGFLT4:5:1446:24145:10851,LH00995:48:23YTGFLT4:5:1446:24154:10837,LH00995:48:23YTGFLT4:6:1210:10603:26600,LH00995:48:23YTGFLT4:6:1210:10603:26600,LH00995:48:23YTGFLT4:6:1210:10603:26600,LH00995:48:23YTGFLT4:6:1210:10603:26600,LH00995:48:23YTGFLT4:6:1210:10603:26600,LH00995:48:23YTGFLT4:6:1210:10603:26600,LH00995:48:23YTGFLT4:6:1210:10603:26600,LH00995:48:23YTGFLT4:6:1210:10603:26600,LH00995:48:23YTGFLT4:6:1210:10603:26600,LH00995:48:23YTGFLT4:6:1440:46757:26362,LH00995:48:23YTGFLT4:7:2319:7108:17100,LH00995:48:23YTGFLT4:7:2319:7108:17100,LH00995:48:23YTGFLT4:7:2319:7108:17100,LH00995:48:23YTGFLT4:7:2319:7108:17100,LH00995:48:23YTGFLT4:7:2319:7108:17100,LH00995:48:23YTGFLT4:7:2319:7108:17100,LH00995:48:23YTGFLT4:7:2319:7108:17100,LH00995:48:23YTGFLT4:7:2319:7108:17100,LH00995:48:23YTGFLT4:7:2319:7108:17100,LH00995:48:23YTGFLT4:7:2319:7108:17100,LH00995:48:23YTGFLT4:1:1218:30739:22971,LH00995:48:23YTGFLT4:1:1258:47299:15026,LH00995:48:23YTGFLT4:1:1298:45673:21822,LH00995:48:23YTGFLT4:1:1298:45681:21808,LH00995:48:23YTGFLT4:1:1323:36070:1238,LH00995:48:23YTGFLT4:1:1342:27009:22341,LH00995:48:23YTGFLT4:1:1347:11282:8525,LH00995:48:23YTGFLT4:1:1434:10983:12210,LH00995:48:23YTGFLT4:1:1436:2602:21542,LH00995:48:23YTGFLT4:1:2182:8766:23223,LH00995:48:23YTGFLT4:1:2236:19931:26306,LH00995:48:23YTGFLT4:1:2252:29008:14059,LH00995:48:23YTGFLT4:1:2304:4438:3536,LH00995:48:23YTGFLT4:1:2377:48488:17254,LH00995:48:23YTGFLT4:1:2439:24930:19889,LH00995:48:23YTGFLT4:1:2482:11485:23167,LH00995:48:23YTGFLT4:2:2179:51085:9590,LH00995:48:23YTGFLT4:2:2203:3743:24863,LH00995:48:23YTGFLT4:2:2315:8872:2555,LH00995:48:23YTGFLT4:2:2315:8888:2555,LH00995:48:23YTGFLT4:2:2421:12431:11355,LH00995:48:23YTGFLT4:2:2425:23401:19090,LH00995:48:23YTGFLT4:2:2495:32600:23364,LH00995:48:23YTGFLT4:3:1108:2027:8749,LH00995:48:23YTGFLT4:3:1111:19680:22873,LH00995:48:23YTGFLT4:3:1188:30456:22957,LH00995:48:23YTGFLT4:3:1254:34832:2738,LH00995:48:23YTGFLT4:3:1255:19672:17142,LH00995:48:23YTGFLT4:3:1255:19688:17142,LH00995:48:23YTGFLT4:3:1493:3896:5932,LH00995:48:23YTGFLT4:3:2270:26589:17128,LH00995:48:23YTGFLT4:3:2402:40172:23560,LH00995:48:23YTGFLT4:3:2418:18620:14312,LH00995:48:23YTGFLT4:4:1233:29841:13821,LH00995:48:23YTGFLT4:4:1343:31532:28548,LH00995:48:23YTGFLT4:4:1429:40172:16974,LH00995:48:23YTGFLT4:4:2132:42130:9127,LH00995:48:23YTGFLT4:4:2202:18539:28660,LH00995:48:23YTGFLT4:4:2215:48092:16287,LH00995:48:23YTGFLT4:4:2317:26864:9085,LH00995:48:23YTGFLT4:5:1331:4066:5022,LH00995:48:23YTGFLT4:5:1404:4131:5778,LH00995:48:23YTGFLT4:5:1441:23652:24373,LH00995:48:23YTGFLT4:5:2202:28474:11397,LH00995:48:23YTGFLT4:5:2471:21905:8763,LH00995:48:23YTGFLT4:6:1118:11606:22201,LH00995:48:23YTGFLT4:6:1268:20335:1476,LH00995:48:23YTGFLT4:6:1306:30965:6997,LH00995:48:23YTGFLT4:6:1331:5013:26839,LH00995:48:23YTGFLT4:6:1347:48391:27483,LH00995:48:23YTGFLT4:6:1356:27050:8398,LH00995:48:23YTGFLT4:6:2262:50762:26096,LH00995:48:23YTGFLT4:6:2314:26985:13947,LH00995:48:23YTGFLT4:6:2328:21176:25381,LH00995:48:23YTGFLT4:6:2408:25043:21934,LH00995:48:23YTGFLT4:6:2462:39783:25437,LH00995:48:23YTGFLT4:6:2472:15902:5736,LH00995:48:23YTGFLT4:7:1136:25998:9660,LH00995:48:23YTGFLT4:7:1248:17698:15937,LH00995:48:23YTGFLT4:7:2307:47825:5148,LH00995:48:23YTGFLT4:7:2383:27058:12728,LH00995:48:23YTGFLT4:7:2442:34218:14424,LH00995:48:23YTGFLT4:8:1458:45163:22677,LH00995:48:23YTGFLT4:8:1461:16476:28506,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122,LH00995:48:23YTGFLT4:7:1377:42761:21122

FP671120.4

CD81

+/+

chr21:8217356

chr11:2377533

intron

5'UTR

translocation

65535

13727

medium

|Tetraspanin_family(100%)

ENSG00000278996.1

ENSG00000110651.12

ENST00000263645.10

downstream

upstream

duplicates(3),low_entropy(1),mismatches(3)

CGGCGGCGGTCGGCGGGCGGCGGGGCGGGGCGGTTCGTCCCCCCGCCCTACCCCCCCGGCCCCGTCCGCCCCCCGTTCCCCCCTCCTCC|CCGCCGCCCGCGCCGCCATGGGAGTGGAGGGCTGCACCAAGTGCATCAAGTACCTGCTCTTCGTCTTCAATTTCGTC

LH00995:48:23YTGFLT4:1:2296:38619:22411,LH00995:48:23YTGFLT4:2:1115:14260:8553,LH00995:48:23YTGFLT4:2:1295:10538:25564,LH00995:48:23YTGFLT4:3:1483:24906:9730,LH00995:48:23YTGFLT4:3:2187:30504:21220,LH00995:48:23YTGFLT4:3:2328:36442:16259,LH00995:48:23YTGFLT4:4:1156:15813:21220,LH00995:48:23YTGFLT4:4:1179:20780:26685,LH00995:48:23YTGFLT4:4:1224:33133:28156,LH00995:48:23YTGFLT4:5:1244:11646:9828,LH00995:48:23YTGFLT4:5:1297:28991:21710,LH00995:48:23YTGFLT4:5:2229:45964:2429,LH00995:48:23YTGFLT4:5:2417:13370:20968,LH00995:48:23YTGFLT4:6:1192:23231:13499,LH00995:48:23YTGFLT4:6:2361:48124:2079,LH00995:48:23YTGFLT4:7:1444:18426:13807,LH00995:48:23YTGFLT4:8:1155:33773:19622,LH00995:48:23YTGFLT4:1:1260:36256:24064,LH00995:48:23YTGFLT4:1:2301:51312:6675,LH00995:48:23YTGFLT4:2:1105:19057:20421,LH00995:48:23YTGFLT4:2:1239:14648:24695,LH00995:48:23YTGFLT4:2:1239:14664:24695,LH00995:48:23YTGFLT4:2:1395:25132:7544,LH00995:48:23YTGFLT4:2:1476:51595:22859,LH00995:48:23YTGFLT4:2:2395:28304:4713,LH00995:48:23YTGFLT4:3:1478:11784:20659,LH00995:48:23YTGFLT4:3:2359:47898:28786,LH00995:48:23YTGFLT4:4:2329:40188:9856,LH00995:48:23YTGFLT4:5:1346:39274:10486,LH00995:48:23YTGFLT4:5:1454:2230:18543

SSR1

AL031123.1

-/-

chr6:7309917

chr6:6711858

CDS/splice-site

exon/splice-site

deletion

4128

medium

out-of-frame

Translocon-associated_protein_(TRAP)__alpha_subunit(20%)|

ENSG00000124783.14

ENSG00000226281.4

ENST00000474597.5

ENST00000656346.1

upstream

downstream

duplicates(8),mismatches(2)

CCTCCCCCGCTTGCTGCTGCTTCTCTTACTCGTGTTCCCTGCCACTGTCTTGTTCCGAGGCGGCCCCAGAG___GCTTGTTAGCAGTGGCACAAGATCTTACAGAGGATGAAGAAACAGTAGAAGATTCCATAATTGAGGATGAAGATGATGAAGCCGAGGTAGAAGAAGATGAACCCACAGATTTG|GAAATGACTTACTGCAAAGAACCACTCTTCCCCACGAGACTTCGAGAAGACCCGCTGTCACGGACTGAGTTGTGTCCTCTTAAAATTCAGATGTTGGAGTCCAAA

LPRLLLLLLLVFPATVLFRGGPRGLLAVAQDLTEDEETVEDSIIEDEDDEAEVEEDEPTDL|emtyckeplfptrlredplsrtelcplkiqmles

LH00995:48:23YTGFLT4:3:2318:28174:6843,LH00995:48:23YTGFLT4:8:1175:4090:2878,LH00995:48:23YTGFLT4:8:1277:41458:28702,LH00995:48:23YTGFLT4:8:1277:41466:28688,LH00995:48:23YTGFLT4:8:1277:41474:28702,LH00995:48:23YTGFLT4:1:1290:51061:20645,LH00995:48:23YTGFLT4:1:1466:6315:6535,LH00995:48:23YTGFLT4:1:2486:40803:27147,LH00995:48:23YTGFLT4:1:2486:40811:27161,LH00995:48:23YTGFLT4:1:2486:40819:27175,LH00995:48:23YTGFLT4:2:1136:47178:12995,LH00995:48:23YTGFLT4:2:1136:47186:13009,LH00995:48:23YTGFLT4:2:1206:27988:1560,LH00995:48:23YTGFLT4:2:1378:12480:9057,LH00995:48:23YTGFLT4:3:1197:23118:12518,LH00995:48:23YTGFLT4:3:1233:48715:21850,LH00995:48:23YTGFLT4:3:1239:26993:17605,LH00995:48:23YTGFLT4:4:1132:33562:15531,LH00995:48:23YTGFLT4:4:2191:22188:19398,LH00995:48:23YTGFLT4:4:2242:52040:12924,LH00995:48:23YTGFLT4:4:2427:31936:20813,LH00995:48:23YTGFLT4:5:1260:46191:15545,LH00995:48:23YTGFLT4:5:1342:49071:21934,LH00995:48:23YTGFLT4:5:1387:12156:14774,LH00995:48:23YTGFLT4:5:2210:49661:17268,LH00995:48:23YTGFLT4:5:2253:35496:23560,LH00995:48:23YTGFLT4:5:2275:24057:3494,LH00995:48:23YTGFLT4:5:2294:24097:17661,LH00995:48:23YTGFLT4:5:2294:24113:17661,LH00995:48:23YTGFLT4:5:2430:31281:26516,LH00995:48:23YTGFLT4:5:2483:39322:22929,LH00995:48:23YTGFLT4:6:2137:2456:19300,LH00995:48:23YTGFLT4:6:2169:19728:12588,LH00995:48:23YTGFLT4:6:2270:35941:12812,LH00995:48:23YTGFLT4:7:2102:45438:20968,LH00995:48:23YTGFLT4:7:2490:49645:21248

NPHP3

ACAD11

-/-

chr3:132681914

chr3:132644896

CDS

CDS/splice-site

deletion/read-through

413

602

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(15),mismappers(2)

GGGCAATGGAAATAAAAGAAGCAGAAACATCACTCTTGGGTGGAAAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTATCTCCAGAAGGGCTTTCAAACATATGTGCTCAGGAAAAAACCACCAGGTTCACTTCTTCCTAAAGCACATCA

AMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTFYLQKGFQTYVLRKKPPGSLLPKAH

LH00995:48:23YTGFLT4:5:1431:38877:13023,LH00995:48:23YTGFLT4:6:1129:41563:3859,LH00995:48:23YTGFLT4:6:1267:47639:2527,LH00995:48:23YTGFLT4:7:1462:33667:24513,LH00995:48:23YTGFLT4:1:2148:14300:29361,LH00995:48:23YTGFLT4:1:2260:45916:28800,LH00995:48:23YTGFLT4:1:2361:44330:11341,LH00995:48:23YTGFLT4:1:2363:39104:4699,LH00995:48:23YTGFLT4:2:1297:31653:19146,LH00995:48:23YTGFLT4:2:1337:18046:2892,LH00995:48:23YTGFLT4:2:1337:18054:2878,LH00995:48:23YTGFLT4:2:1337:18062:2892,LH00995:48:23YTGFLT4:2:1360:44913:4307,LH00995:48:23YTGFLT4:2:1468:31046:2177,LH00995:48:23YTGFLT4:2:2225:25448:21738,LH00995:48:23YTGFLT4:2:2319:37106:23714,LH00995:48:23YTGFLT4:3:2131:25448:9828,LH00995:48:23YTGFLT4:3:2349:51401:5764,LH00995:48:23YTGFLT4:3:2470:47323:16722,LH00995:48:23YTGFLT4:4:1491:9462:9435,LH00995:48:23YTGFLT4:4:2244:20732:21220,LH00995:48:23YTGFLT4:4:2447:27454:8903,LH00995:48:23YTGFLT4:5:1104:39484:15503,LH00995:48:23YTGFLT4:5:1384:3662:23209,LH00995:48:23YTGFLT4:5:1384:3678:23209,LH00995:48:23YTGFLT4:5:1490:41895:19790,LH00995:48:23YTGFLT4:5:1492:5482:18880,LH00995:48:23YTGFLT4:5:2251:8742:8917,LH00995:48:23YTGFLT4:6:1165:10789:24653,LH00995:48:23YTGFLT4:6:1398:24510:28548,LH00995:48:23YTGFLT4:6:2449:32559:18613,LH00995:48:23YTGFLT4:7:1279:21921:9660,LH00995:48:23YTGFLT4:7:1441:36612:28548,LH00995:48:23YTGFLT4:7:2203:42275:1308,LH00995:48:23YTGFLT4:7:2406:34574:7502,LH00995:48:23YTGFLT4:7:2406:34590:7502,LH00995:48:23YTGFLT4:7:2452:28870:21304,LH00995:48:23YTGFLT4:8:1268:9503:17913,LH00995:48:23YTGFLT4:8:1456:29113:20575

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(31),mismappers(1)

CCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCT

PQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

LH00995:48:23YTGFLT4:1:1188:49896:21122,LH00995:48:23YTGFLT4:1:2321:28724:25339,LH00995:48:23YTGFLT4:1:2437:7666:23476,LH00995:48:23YTGFLT4:2:2260:41094:8118,LH00995:48:23YTGFLT4:3:1391:24073:11425,LH00995:48:23YTGFLT4:4:1319:46166:11972,LH00995:48:23YTGFLT4:5:1205:10635:8300,LH00995:48:23YTGFLT4:5:2243:32025:12756,LH00995:48:23YTGFLT4:5:2288:36952:9099,LH00995:48:23YTGFLT4:5:2288:36960:9085,LH00995:48:23YTGFLT4:6:1161:31499:6465,LH00995:48:23YTGFLT4:6:1318:52040:12560,LH00995:48:23YTGFLT4:7:1154:46336:17086,LH00995:48:23YTGFLT4:8:1453:41806:6493,LH00995:48:23YTGFLT4:1:1122:19567:13681,LH00995:48:23YTGFLT4:1:1173:50931:16301,LH00995:48:23YTGFLT4:1:1249:47048:23308,LH00995:48:23YTGFLT4:1:1280:6962:2892,LH00995:48:23YTGFLT4:2:1123:33595:20547,LH00995:48:23YTGFLT4:2:1161:36410:3424,LH00995:48:23YTGFLT4:2:1472:42308:11789,LH00995:48:23YTGFLT4:2:1472:42316:11803,LH00995:48:23YTGFLT4:2:2279:10069:2527,LH00995:48:23YTGFLT4:3:1169:3411:2457,LH00995:48:23YTGFLT4:3:1476:31475:25087,LH00995:48:23YTGFLT4:3:1478:15861:11495,LH00995:48:23YTGFLT4:3:2166:17277:26614,LH00995:48:23YTGFLT4:3:2239:40657:13807,LH00995:48:23YTGFLT4:4:2141:20732:21024,LH00995:48:23YTGFLT4:4:2141:24032:16231,LH00995:48:23YTGFLT4:4:2186:44290:16343,LH00995:48:23YTGFLT4:4:2210:28457:23868,LH00995:48:23YTGFLT4:4:2228:27737:18866,LH00995:48:23YTGFLT4:4:2318:38780:12995,LH00995:48:23YTGFLT4:4:2372:24493:1841,LH00995:48:23YTGFLT4:4:2467:27851:13709,LH00995:48:23YTGFLT4:5:2188:14203:20309,LH00995:48:23YTGFLT4:5:2422:26467:5652,LH00995:48:23YTGFLT4:6:1238:27932:22593,LH00995:48:23YTGFLT4:6:1403:35253:15040,LH00995:48:23YTGFLT4:6:2133:16064:8118,LH00995:48:23YTGFLT4:6:2302:16711:2653,LH00995:48:23YTGFLT4:6:2487:23013:27721,LH00995:48:23YTGFLT4:7:1157:30310:10374,LH00995:48:23YTGFLT4:7:1305:29873:3957,LH00995:48:23YTGFLT4:7:2212:21694:3887,LH00995:48:23YTGFLT4:7:2362:36556:2247,LH00995:48:23YTGFLT4:7:2467:41361:28758,LH00995:48:23YTGFLT4:7:2479:44290:23490,LH00995:48:23YTGFLT4:8:1362:42712:7530,LH00995:48:23YTGFLT4:8:1373:50519:6675,LH00995:48:23YTGFLT4:8:1373:50535:6675

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(31),mismappers(1)

PQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(31),mismappers(1)

PQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(31),mismappers(1)

PQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(31),mismappers(1)

PQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(31),mismappers(1)

PQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(31),mismappers(1)

PQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(31),mismappers(1)

PQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(31),mismappers(1)

PQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(31),mismappers(1)

PQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEM

PCDHA5

PCDHAC1

+/+

chr5:140824127

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

157

1360

medium

in-frame

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

ENSG00000204965.9

ENSG00000248383.5

ENST00000614258.1

ENST00000253807.3

downstream

upstream

duplicates(21),mismatches(3)

AGCTGGTCGTACTCGCAGCAGAGGAGACAGAGGGTGTGCTCTGGGGAAGCTCCACCCAAAACAGACCTCATGGCCTTCAGTCCAAGCCTTCCTCAGGGTCCCACCTCTACAGACAAC|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG

SWSYSQQRRQRVCSGEAPPKTDLMAFSPSLPQGPTSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

LH00995:48:23YTGFLT4:1:1194:49532:12392,LH00995:48:23YTGFLT4:2:1173:7618:12294,LH00995:48:23YTGFLT4:2:1207:2925:18543,LH00995:48:23YTGFLT4:2:1341:45220:28969,LH00995:48:23YTGFLT4:3:1109:32632:6717,LH00995:48:23YTGFLT4:3:2465:41903:7614,LH00995:48:23YTGFLT4:4:1442:2545:25676,LH00995:48:23YTGFLT4:4:2438:49378:8987,LH00995:48:23YTGFLT4:5:2111:13523:18123,LH00995:48:23YTGFLT4:6:2142:36369:2541,LH00995:48:23YTGFLT4:7:1322:19041:18011,LH00995:48:23YTGFLT4:1:1308:7326:24961,LH00995:48:23YTGFLT4:1:1376:6631:12098,LH00995:48:23YTGFLT4:1:2229:33942:17254,LH00995:48:23YTGFLT4:1:2263:35091:6493,LH00995:48:23YTGFLT4:1:2496:5458:11299,LH00995:48:23YTGFLT4:3:1195:24210:11103,LH00995:48:23YTGFLT4:3:1226:11347:3985,LH00995:48:23YTGFLT4:3:1307:43060:1687,LH00995:48:23YTGFLT4:3:2117:16039:10935,LH00995:48:23YTGFLT4:3:2162:33805:18557,LH00995:48:23YTGFLT4:3:2217:15918:24036,LH00995:48:23YTGFLT4:4:2109:14535:11075,LH00995:48:23YTGFLT4:5:2231:18838:11271,LH00995:48:23YTGFLT4:5:2296:45932:29417,LH00995:48:23YTGFLT4:5:2342:36394:4125,LH00995:48:23YTGFLT4:5:2368:32664:16357,LH00995:48:23YTGFLT4:5:2412:49313:27792,LH00995:48:23YTGFLT4:5:2424:40366:20365,LH00995:48:23YTGFLT4:6:1456:1849:12981,LH00995:48:23YTGFLT4:6:2117:41757:9183,LH00995:48:23YTGFLT4:6:2120:13038:19720,LH00995:48:23YTGFLT4:6:2148:24526:15124,LH00995:48:23YTGFLT4:6:2173:19211:18109,LH00995:48:23YTGFLT4:6:2243:16541:4461,LH00995:48:23YTGFLT4:6:2387:25852:23952,LH00995:48:23YTGFLT4:6:2402:24154:9491,LH00995:48:23YTGFLT4:6:2457:24639:6157,LH00995:48:23YTGFLT4:7:1153:22608:20295,LH00995:48:23YTGFLT4:7:1348:48585:13723,LH00995:48:23YTGFLT4:8:1315:14211:13289,LH00995:48:23YTGFLT4:8:1492:20416:20841,LH00995:48:23YTGFLT4:2:1445:46272:16301

PCDHA5

PCDHAC2

+/+

chr5:140824127

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

157

1360

medium

in-frame

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

ENSG00000204965.9

ENSG00000243232.6

ENST00000614258.1

ENST00000289269.7

downstream

upstream

duplicates(21),mismatches(3)

SWSYSQQRRQRVCSGEAPPKTDLMAFSPSLPQGPTSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

PCDHA5

PCDHA13

+/+

chr5:140824127

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

157

1360

medium

in-frame

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

ENSG00000204965.9

ENSG00000239389.8

ENST00000614258.1

ENST00000289272.3

downstream

upstream

duplicates(21),mismatches(3)

SWSYSQQRRQRVCSGEAPPKTDLMAFSPSLPQGPTSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

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

EZR

./-

-/-

chr4:189268998

chr6:158769418

intergenic

CDS/splice-site

translocation

41131

medium

|Ezrin/radixin/moesin_family_C_terminal(67%)

ENSG00000092820.18

ENST00000367075.4

upstream

downstream

duplicates(10),mismappers(1),mismatches(1)

GAGAGAGAGAGAGAGAGGAGCAGCTG|GCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGG___GCCAAAGAAGCCCAGGATGACCTGGTGAAGA

LH00995:48:23YTGFLT4:1:1235:17665:13723,LH00995:48:23YTGFLT4:1:1235:17673:13709,LH00995:48:23YTGFLT4:1:1332:29558:10949,LH00995:48:23YTGFLT4:1:1408:41280:29011,LH00995:48:23YTGFLT4:1:2401:12067:11173,LH00995:48:23YTGFLT4:2:2102:45980:28464,LH00995:48:23YTGFLT4:2:2370:43707:6423,LH00995:48:23YTGFLT4:2:2472:41272:16750,LH00995:48:23YTGFLT4:3:1391:40374:2724,LH00995:48:23YTGFLT4:3:2321:22689:24330,LH00995:48:23YTGFLT4:4:1116:3888:8384,LH00995:48:23YTGFLT4:4:1296:14308:11860,LH00995:48:23YTGFLT4:4:1449:44176:13149,LH00995:48:23YTGFLT4:4:1449:44184:13163,LH00995:48:23YTGFLT4:4:1449:44201:13163,LH00995:48:23YTGFLT4:4:1449:44209:13177,LH00995:48:23YTGFLT4:4:2207:21443:27077,LH00995:48:23YTGFLT4:4:2412:5466:25774,LH00995:48:23YTGFLT4:4:2431:41337:4643,LH00995:48:23YTGFLT4:5:1226:14195:14101,LH00995:48:23YTGFLT4:5:1261:17463:6002,LH00995:48:23YTGFLT4:5:2277:17536:23952,LH00995:48:23YTGFLT4:6:1207:46797:12728,LH00995:48:23YTGFLT4:6:2134:10627:23952,LH00995:48:23YTGFLT4:6:2240:20311:19650,LH00995:48:23YTGFLT4:6:2312:40083:16960,LH00995:48:23YTGFLT4:7:1347:27988:13639,LH00995:48:23YTGFLT4:7:2184:49394:28632,LH00995:48:23YTGFLT4:7:2240:47202:1322,LH00995:48:23YTGFLT4:7:2259:41248:17044,LH00995:48:23YTGFLT4:7:2433:14219:9183

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),mismappers(2)

CCTCACCGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG

LTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

LH00995:48:23YTGFLT4:3:1327:50438:24443,LH00995:48:23YTGFLT4:3:2322:17698:28380,LH00995:48:23YTGFLT4:3:2440:15222:27763,LH00995:48:23YTGFLT4:4:1338:39169:8567,LH00995:48:23YTGFLT4:4:1357:23709:13933,LH00995:48:23YTGFLT4:4:1456:12536:8735,LH00995:48:23YTGFLT4:4:2218:23684:12294,LH00995:48:23YTGFLT4:4:2243:34711:9113,LH00995:48:23YTGFLT4:4:2437:35844:5666,LH00995:48:23YTGFLT4:4:2452:18968:9618,LH00995:48:23YTGFLT4:5:1406:47615:16862,LH00995:48:23YTGFLT4:5:2326:33748:8118,LH00995:48:23YTGFLT4:6:2171:47388:1869,LH00995:48:23YTGFLT4:6:2289:50842:26068,LH00995:48:23YTGFLT4:6:2422:27640:15110,LH00995:48:23YTGFLT4:7:1167:43052:13639,LH00995:48:23YTGFLT4:7:2318:41620:3060,LH00995:48:23YTGFLT4:7:2438:51781:12112,LH00995:48:23YTGFLT4:8:1385:35787:2850,LH00995:48:23YTGFLT4:1:1128:18491:3158,LH00995:48:23YTGFLT4:1:1266:28223:12280,LH00995:48:23YTGFLT4:1:1377:1582:18599,LH00995:48:23YTGFLT4:1:1444:41685:10851,LH00995:48:23YTGFLT4:1:2476:4463:3046,LH00995:48:23YTGFLT4:2:1320:39614:25928,LH00995:48:23YTGFLT4:3:1376:50009:3662,LH00995:48:23YTGFLT4:4:1111:20392:22257,LH00995:48:23YTGFLT4:4:1446:13653:10949,LH00995:48:23YTGFLT4:5:1328:5992:15138,LH00995:48:23YTGFLT4:5:1328:6000:15152,LH00995:48:23YTGFLT4:5:2313:11113:27231,LH00995:48:23YTGFLT4:5:2451:28466:17969,LH00995:48:23YTGFLT4:6:1339:20821:16161,LH00995:48:23YTGFLT4:6:2297:7836:29459,LH00995:48:23YTGFLT4:6:2455:2311:1168,LH00995:48:23YTGFLT4:7:1208:13103:11649,LH00995:48:23YTGFLT4:7:1379:32729:15208,LH00995:48:23YTGFLT4:7:1420:44435:20659,LH00995:48:23YTGFLT4:7:2472:5587:17072,LH00995:48:23YTGFLT4:8:1302:7553:10500

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

147

6256

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(35),low_entropy(1)

GGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGAC

VSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

LH00995:48:23YTGFLT4:1:2311:26556:14634,LH00995:48:23YTGFLT4:1:2444:39533:14186,LH00995:48:23YTGFLT4:1:2444:39549:14186,LH00995:48:23YTGFLT4:1:2495:52194:3130,LH00995:48:23YTGFLT4:3:1461:48318:16315,LH00995:48:23YTGFLT4:3:1461:48335:16315,LH00995:48:23YTGFLT4:3:2414:39339:8637,LH00995:48:23YTGFLT4:4:1182:1502:25550,LH00995:48:23YTGFLT4:4:1458:19704:13163,LH00995:48:23YTGFLT4:4:2350:49791:5470,LH00995:48:23YTGFLT4:5:1190:30957:20519,LH00995:48:23YTGFLT4:5:1324:42736:8356,LH00995:48:23YTGFLT4:5:2154:9875:5442,LH00995:48:23YTGFLT4:5:2351:31855:11453,LH00995:48:23YTGFLT4:6:2391:32939:1504,LH00995:48:23YTGFLT4:7:1359:25084:4433,LH00995:48:23YTGFLT4:1:1239:27899:5862,LH00995:48:23YTGFLT4:1:1333:49864:12910,LH00995:48:23YTGFLT4:1:1478:24170:1813,LH00995:48:23YTGFLT4:1:2433:3257:9842,LH00995:48:23YTGFLT4:1:2477:11137:5526,LH00995:48:23YTGFLT4:2:1177:17188:13177,LH00995:48:23YTGFLT4:2:1318:39864:13555,LH00995:48:23YTGFLT4:2:1327:45349:4335,LH00995:48:23YTGFLT4:2:1368:35496:27343,LH00995:48:23YTGFLT4:2:2270:3540:23308,LH00995:48:23YTGFLT4:2:2288:11946:20883,LH00995:48:23YTGFLT4:3:1136:49904:15895,LH00995:48:23YTGFLT4:3:1290:26937:25662,LH00995:48:23YTGFLT4:3:1467:47704:27469,LH00995:48:23YTGFLT4:3:2106:26411:14634,LH00995:48:23YTGFLT4:4:1164:22948:17520,LH00995:48:23YTGFLT4:4:1405:4244:20239,LH00995:48:23YTGFLT4:4:2104:41774:8455,LH00995:48:23YTGFLT4:4:2395:28271:10010,LH00995:48:23YTGFLT4:5:1186:5684:12812,LH00995:48:23YTGFLT4:5:1473:30949:24373,LH00995:48:23YTGFLT4:5:2136:30472:22257,LH00995:48:23YTGFLT4:5:2329:50899:23756,LH00995:48:23YTGFLT4:5:2348:14332:14984,LH00995:48:23YTGFLT4:5:2348:14348:14984,LH00995:48:23YTGFLT4:5:2419:29752:25437,LH00995:48:23YTGFLT4:6:2125:10579:16918,LH00995:48:23YTGFLT4:6:2379:49936:16484,LH00995:48:23YTGFLT4:6:2379:49945:16470,LH00995:48:23YTGFLT4:7:1137:15174:27343,LH00995:48:23YTGFLT4:7:1185:2545:13289,LH00995:48:23YTGFLT4:7:2101:23102:6297,LH00995:48:23YTGFLT4:7:2137:47898:1715,LH00995:48:23YTGFLT4:7:2195:9495:16974,LH00995:48:23YTGFLT4:7:2280:18604:12294,LH00995:48:23YTGFLT4:8:1333:25844:26180,LH00995:48:23YTGFLT4:8:1474:29291:24919,LH00995:48:23YTGFLT4:8:2126:19575:12966

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),mismappers(2)

LTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),mismappers(2)

LTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),mismappers(2)

LTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),mismappers(2)

LTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

147

6256

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(35),low_entropy(1)

VSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

147

6256

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(35),low_entropy(1)

VSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

147

6256

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(35),low_entropy(1)

VSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),mismappers(2)

LTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),mismappers(2)

LTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),mismappers(2)

LTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

147

6256

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(35),low_entropy(1)

VSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),mismappers(2)

LTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),mismappers(2)

LTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

147

6256

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(35),low_entropy(1)

VSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

147

6256

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(35),low_entropy(1)

VSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

147

6256

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(35),low_entropy(1)

VSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

147

6256

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(35),low_entropy(1)

VSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

147

6256

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(35),low_entropy(1)

VSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PPDPF

FP236383.3

+/+

chr20:63521935

chr21:8399951

3'UTR

intron

translocation

10670

12872

medium

stop-codon

Differentiation_and_proliferation_regulator(100%)|

ENSG00000125534.10

ENSG00000280441.3

ENST00000370179.8

downstream

upstream

duplicates(19),mismatches(13),multimappers(24)

TGGAGTCCGCAGAGCACTCGGAACCTCCCCAGGCCTCCAGCAGCATGACCGCCTGTGGCCTGGCTCGGGACGCCCCGAGGAAGCAGCCCGGCGGTCAGTCCAGCACAGCCAGCGCTGGGCCCCCGTCCTGACCTGAGCGGTTACCACCAGCCCCAGGCCTGCGGAGGCGCTAGTCCACCAGAGCCCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1179:30318:9407,LH00995:48:23YTGFLT4:1:1215:1008:22677,LH00995:48:23YTGFLT4:1:1215:1016:22691,LH00995:48:23YTGFLT4:1:1304:26678:17030,LH00995:48:23YTGFLT4:1:1354:20020:24246,LH00995:48:23YTGFLT4:1:1367:25941:25956,LH00995:48:23YTGFLT4:1:1371:26484:19580,LH00995:48:23YTGFLT4:1:1455:32867:8861,LH00995:48:23YTGFLT4:1:1488:5280:1434,LH00995:48:23YTGFLT4:1:2294:29072:9099,LH00995:48:23YTGFLT4:1:2319:39290:7263,LH00995:48:23YTGFLT4:1:2325:22519:13751,LH00995:48:23YTGFLT4:1:2479:21977:18641,LH00995:48:23YTGFLT4:2:1384:12140:10150,LH00995:48:23YTGFLT4:2:1477:25618:5638,LH00995:48:23YTGFLT4:2:2104:11760:21346,LH00995:48:23YTGFLT4:2:2246:15886:9744,LH00995:48:23YTGFLT4:2:2246:15894:9730,LH00995:48:23YTGFLT4:2:2274:45560:3186,LH00995:48:23YTGFLT4:2:2298:9341:19566,LH00995:48:23YTGFLT4:2:2304:11056:28366,LH00995:48:23YTGFLT4:2:2304:11072:28366,LH00995:48:23YTGFLT4:2:2309:14802:24625,LH00995:48:23YTGFLT4:2:2392:8435:2752,LH00995:48:23YTGFLT4:2:2397:2060:7039,LH00995:48:23YTGFLT4:2:2448:22778:3971,LH00995:48:23YTGFLT4:3:1125:30609:18908,LH00995:48:23YTGFLT4:3:1125:30626:18908,LH00995:48:23YTGFLT4:3:1130:29800:8763,LH00995:48:23YTGFLT4:3:1130:29817:8763,LH00995:48:23YTGFLT4:3:1176:48254:29627,LH00995:48:23YTGFLT4:3:1222:36014:27231,LH00995:48:23YTGFLT4:3:1449:18855:12616,LH00995:48:23YTGFLT4:3:2258:22212:24008,LH00995:48:23YTGFLT4:3:2291:26516:11902,LH00995:48:23YTGFLT4:3:2295:45309:22565,LH00995:48:23YTGFLT4:3:2406:14753:1645,LH00995:48:23YTGFLT4:3:2449:7480:1995,LH00995:48:23YTGFLT4:3:2495:29517:17745,LH00995:48:23YTGFLT4:4:1263:49055:4167,LH00995:48:23YTGFLT4:4:1263:49063:4153,LH00995:48:23YTGFLT4:4:1319:24202:21346,LH00995:48:23YTGFLT4:4:1469:44023:15236,LH00995:48:23YTGFLT4:4:2235:38384:24218,LH00995:48:23YTGFLT4:4:2254:51223:13555,LH00995:48:23YTGFLT4:4:2324:28336:23434,LH00995:48:23YTGFLT4:4:2359:25521:27890,LH00995:48:23YTGFLT4:4:2360:33959:14508,LH00995:48:23YTGFLT4:4:2378:49111:2948,LH00995:48:23YTGFLT4:4:2378:49119:2962,LH00995:48:23YTGFLT4:5:1122:33845:25297,LH00995:48:23YTGFLT4:5:1176:16339:9295,LH00995:48:23YTGFLT4:5:1176:16347:9309,LH00995:48:23YTGFLT4:5:1317:5862:28226,LH00995:48:23YTGFLT4:5:1425:17746:16918,LH00995:48:23YTGFLT4:5:2135:23450:4321,LH00995:48:23YTGFLT4:5:2338:50454:25676,LH00995:48:23YTGFLT4:6:1170:12140:26068,LH00995:48:23YTGFLT4:6:1215:3565:4041,LH00995:48:23YTGFLT4:6:2113:39322:7039,LH00995:48:23YTGFLT4:6:2148:2294:29137,LH00995:48:23YTGFLT4:6:2158:50907:3200,LH00995:48:23YTGFLT4:6:2278:47259:10388,LH00995:48:23YTGFLT4:6:2334:39444:20309,LH00995:48:23YTGFLT4:6:2335:24259:17492,LH00995:48:23YTGFLT4:7:1439:1518:29053,LH00995:48:23YTGFLT4:7:2331:25869:22467,LH00995:48:23YTGFLT4:8:1126:36588:26825,LH00995:48:23YTGFLT4:8:1157:23142:6311,LH00995:48:23YTGFLT4:8:1179:8629:12308,LH00995:48:23YTGFLT4:8:1258:7941:22159,LH00995:48:23YTGFLT4:8:2123:13887:29011,LH00995:48:23YTGFLT4:3:2406:35528:8791,LH00995:48:23YTGFLT4:6:1280:13362:2878

MTDH

LAPTM4B

+/+

chr8:97713769

chr8:97805353

CDS/splice-site

deletion/read-through

6325

8344

medium

in-frame

Lysine-rich_CEACAM1_co-isolated_protein_family(100%)|Golgi_4-transmembrane_spanning_transporter(100%)

ENSG00000147649.10

ENSG00000104341.17

ENST00000336273.8

ENST00000445593.6

downstream

upstream

duplicates(6),mismappers(6)

TGGGGCAATTGGGTAGACGAAGAAAGAGCTTCACTTCTAAAGTCCCAGGAACCAATTCCTGATGATCAAAAG___GTCTCAGATGATGATAAAGAAAAGGGAGAGGGAGCTCTTCCAACTGGGAAATCCAAAAAGAAAAAAAAGAAAAAGAAGAAGCAAGGTGAAGATAACTCTACTGCACAG|ATCATCAATGCTGTGGTACTGTTGATTTTATTGAGTGCCCTGGCTGATCCGGATCAGTATAACTTTTCAAGTTCTGAACTGGGAGGTGACTTTGAGTTCATGGATGATGCCA___ACATGTGCATTGCCATTGCGATTTCTCTTCTCATGATCCTGATATGTGCTATGGCTACTTACGGAGCGTACAAG___CAACGCGCAGCCTGGATCATCCCATTCTTCTGTTACCAGATCTTTGAC

WGNWVDEERASLLKSQEPIPDDQKVSDDDKEKGEGALPTGKSKKKKKKKKKQGEDNSTAQ|IINAVVLLILLSALADPDQYNFSSSELGGDFEFMDDANMCIAIAISLLMILICAMATYGAYKQRAAWIIPFFCYQIF

LH00995:48:23YTGFLT4:1:1268:6428:13205,LH00995:48:23YTGFLT4:1:2175:33117:14144,LH00995:48:23YTGFLT4:2:2113:30399:10220,LH00995:48:23YTGFLT4:3:1192:14543:1280,LH00995:48:23YTGFLT4:3:2439:19340:6955,LH00995:48:23YTGFLT4:4:2425:43772:13149,LH00995:48:23YTGFLT4:5:1152:50187:22747,LH00995:48:23YTGFLT4:6:1187:23037:24092,LH00995:48:23YTGFLT4:6:2372:44209:8609,LH00995:48:23YTGFLT4:7:1402:37381:13177,LH00995:48:23YTGFLT4:8:1191:6250:15194,LH00995:48:23YTGFLT4:1:1233:9527:18571,LH00995:48:23YTGFLT4:2:1185:40423:21752,LH00995:48:23YTGFLT4:2:1185:40439:21752,LH00995:48:23YTGFLT4:2:1308:50956:22032,LH00995:48:23YTGFLT4:2:1308:50964:22018,LH00995:48:23YTGFLT4:2:2146:14640:18375,LH00995:48:23YTGFLT4:2:2338:20222:12406,LH00995:48:23YTGFLT4:3:1292:6453:5288,LH00995:48:23YTGFLT4:4:2446:38707:7404,LH00995:48:23YTGFLT4:5:1317:47323:8679,LH00995:48:23YTGFLT4:6:1145:32697:4727,LH00995:48:23YTGFLT4:6:1434:29461:6465,LH00995:48:23YTGFLT4:6:1462:16598:20449,LH00995:48:23YTGFLT4:6:1473:20545:20197,LH00995:48:23YTGFLT4:6:2145:34444:12714,LH00995:48:23YTGFLT4:6:2264:1793:16217,LH00995:48:23YTGFLT4:6:2457:35852:5484,LH00995:48:23YTGFLT4:8:1187:4018:6759

PHF10

DYNLT2

-/+

-/-

chr6:169725061

chr6:169740295

intron

CDS/splice-site

inversion/3'-3'

medium

|Tctex-1_family(35%)

ENSG00000130024.15

ENSG00000184786.6

ENST00000366774.4

downstream

duplicates(6),mismatches(1)

GGTTGATGCCTCCGCCGAGAACGCGGTCGGCCGGGAGCCGGGGAGGAGCGTGGACGCCGGCCTGGCAG|ATTGCCAGCAGATGGATCTGGGACATTGCATGGGACAGCTGGGTCGCAGCTAAACACGAAGCAGAATCCTACGTGGCACTGGTCTTGGTGTTTGCCCTTTATTATGAATAGCTCATTACAGGTACTAAGGATTGTTTACTTCCGAACTTTTCAAAAATAAATGAAAa

LH00995:48:23YTGFLT4:1:1241:42720:2724,LH00995:48:23YTGFLT4:1:1296:15975:1911,LH00995:48:23YTGFLT4:1:1325:8354:18557,LH00995:48:23YTGFLT4:1:2180:25723:21906,LH00995:48:23YTGFLT4:1:2212:3548:6815,LH00995:48:23YTGFLT4:1:2223:29970:23994,LH00995:48:23YTGFLT4:1:2275:5684:10570,LH00995:48:23YTGFLT4:2:1163:24623:3074,LH00995:48:23YTGFLT4:2:2370:37963:28562,LH00995:48:23YTGFLT4:3:1426:11824:17114,LH00995:48:23YTGFLT4:3:2486:1170:13121,LH00995:48:23YTGFLT4:4:1406:37114:10500,LH00995:48:23YTGFLT4:4:2219:44573:19048,LH00995:48:23YTGFLT4:5:1129:27519:20309,LH00995:48:23YTGFLT4:5:1360:8710:12252,LH00995:48:23YTGFLT4:6:1345:13345:16610,LH00995:48:23YTGFLT4:6:1427:42850:28030,LH00995:48:23YTGFLT4:6:2262:33603:7193,LH00995:48:23YTGFLT4:6:2360:20149:6255,LH00995:48:23YTGFLT4:7:1183:19874:13513,LH00995:48:23YTGFLT4:7:1481:35504:19706,LH00995:48:23YTGFLT4:7:2264:15416:7614,LH00995:48:23YTGFLT4:7:2486:10376:17464,LH00995:48:23YTGFLT4:8:1496:24688:12658

PRUNE2

-/-

chr9:76709219

chr9:76709230

CDS

duplication/ITD

medium

in-frame

DHHA2_domain(100%)|Bcl2-/adenovirus_E1B_nineteen_kDa-interacting_protein_2(100%),Divergent_CRAL/TRIO_domain(100%)

ENSG00000106772.18

ENST00000376718.8

upstream

downstream

duplicates(29)

CAGACTCTTACACATCACCAACATTTGCTGGAGACGAAAAGGAAACTGAACACAAGCCATTTGCTAAAGAGGAAGGTTTTGAGTCAAAAGATGGTAACTCCAtGGCAGAGGAGACTGACATTCCTCCTCAGTCACTGCAACAGTCA|c|TGCAACAGTCATCTCGAAATCGAATCAGTTCAGGTCCTGGGAACCTAGACATGTGGGCTTCACCTCATACAGATAACAGTTCTGAAATAAATACCACTCACAACCTGGATGAAAATGAACTCAAGACAGAGCA

DSYTSPTFAGDEKETEHKPFAKEEGFESKDGNSmAEETDIPPQSLQQS|lQQSSRNRISSGPGNLDMWASPHTDNSSEINTTHNLDENELKTE

LH00995:48:23YTGFLT4:1:2320:17269:28506,LH00995:48:23YTGFLT4:1:2320:17269:28506,LH00995:48:23YTGFLT4:2:2409:11210:8118,LH00995:48:23YTGFLT4:2:2409:11210:8118,LH00995:48:23YTGFLT4:1:2273:43594:1827,LH00995:48:23YTGFLT4:2:1396:37146:6157,LH00995:48:23YTGFLT4:4:2463:47299:2752,LH00995:48:23YTGFLT4:5:2277:16096:23167,LH00995:48:23YTGFLT4:7:1101:35229:21584,LH00995:48:23YTGFLT4:7:1181:31912:15559,LH00995:48:23YTGFLT4:7:1296:31483:3018,LH00995:48:23YTGFLT4:7:1296:41223:2093,LH00995:48:23YTGFLT4:7:2190:1728:3662,LH00995:48:23YTGFLT4:8:1493:24963:9407,LH00995:48:23YTGFLT4:1:1449:22665:28576,LH00995:48:23YTGFLT4:1:1472:36839:17759,LH00995:48:23YTGFLT4:2:1271:24688:9576,LH00995:48:23YTGFLT4:2:1375:48707:25676,LH00995:48:23YTGFLT4:2:1441:4948:29473,LH00995:48:23YTGFLT4:4:1365:17593:25620,LH00995:48:23YTGFLT4:4:1476:33975:25606,LH00995:48:23YTGFLT4:4:2392:46717:12308,LH00995:48:23YTGFLT4:5:2118:26508:9814,LH00995:48:23YTGFLT4:5:2285:4657:1785,LH00995:48:23YTGFLT4:6:1428:41620:25816,LH00995:48:23YTGFLT4:6:2160:17673:28618,LH00995:48:23YTGFLT4:6:2229:18863:22383,LH00995:48:23YTGFLT4:6:2456:30731:6955,LH00995:48:23YTGFLT4:7:1379:11630:22523,LH00995:48:23YTGFLT4:8:1182:16767:2247,LH00995:48:23YTGFLT4:1:1449:22665:28576,LH00995:48:23YTGFLT4:1:1472:36839:17759,LH00995:48:23YTGFLT4:2:1271:24688:9576,LH00995:48:23YTGFLT4:2:1375:48707:25676,LH00995:48:23YTGFLT4:2:1441:4948:29473,LH00995:48:23YTGFLT4:4:1365:17593:25620,LH00995:48:23YTGFLT4:4:1476:33975:25606,LH00995:48:23YTGFLT4:4:2392:46717:12308,LH00995:48:23YTGFLT4:5:2118:26508:9814,LH00995:48:23YTGFLT4:5:2285:4657:1785,LH00995:48:23YTGFLT4:6:1428:41620:25816,LH00995:48:23YTGFLT4:6:2160:17673:28618,LH00995:48:23YTGFLT4:6:2229:18863:22383,LH00995:48:23YTGFLT4:6:2456:30731:6955,LH00995:48:23YTGFLT4:7:1379:11630:22523,LH00995:48:23YTGFLT4:8:1182:16767:2247

POLR2A

FP236383.3

+/+

chr17:7513253

chr21:8399953

CDS

intron

translocation

15761

12872

medium

out-of-frame

RNA_polymerase_Rpb1_C-terminal_repeat_(16%),RNA_polymerase_Rpb1__domain_1(100%),RNA_polymerase_Rpb1__domain_2(100%),RNA_polymerase_Rpb1__domain_3(100%),RNA_polymerase_Rpb1__domain_4(100%),RNA_polymerase_Rpb1__domain_5(100%),RNA_polymerase_Rpb1__domain_6(100%),RNA_polymerase_Rpb1__domain_7(100%)|

ENSG00000181222.19

ENSG00000280441.3

ENST00000674977.2

downstream

upstream

duplicates(10)

CCCACTTCACCCTCCTACTCCCCTACCTCTCCATCCTATTCTCCAACCAGTCCCAACTATAGTCCCACATCACCCAGCTATTCGCCAACGTCACCCAGCTACTCACCGACCTCTCCCAGCTACTCACCCACCTCTCCCAGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

PTSPSYSPTSPSYSPTSPNYSPTSPSYSPTSPSYSPTSPSYSPTSPS|papslslsp

LH00995:48:23YTGFLT4:1:1361:14551:6339,LH00995:48:23YTGFLT4:1:1441:1526:28618,LH00995:48:23YTGFLT4:1:1441:1534:28632,LH00995:48:23YTGFLT4:1:1441:1542:28618,LH00995:48:23YTGFLT4:1:2125:6412:16540,LH00995:48:23YTGFLT4:1:2306:4317:23868,LH00995:48:23YTGFLT4:2:1485:11735:19566,LH00995:48:23YTGFLT4:2:2350:41822:12126,LH00995:48:23YTGFLT4:2:2468:49839:28394,LH00995:48:23YTGFLT4:3:1488:50292:28170,LH00995:48:23YTGFLT4:3:1488:50300:28156,LH00995:48:23YTGFLT4:3:2448:18701:6157,LH00995:48:23YTGFLT4:4:1241:33109:10654,LH00995:48:23YTGFLT4:4:1346:2375:12995,LH00995:48:23YTGFLT4:4:1492:33587:7894,LH00995:48:23YTGFLT4:4:2323:29509:15124,LH00995:48:23YTGFLT4:5:1210:1510:13233,LH00995:48:23YTGFLT4:5:1419:7788:6815,LH00995:48:23YTGFLT4:5:2282:42518:21766,LH00995:48:23YTGFLT4:6:1262:39589:11285,LH00995:48:23YTGFLT4:6:1262:39597:11271,LH00995:48:23YTGFLT4:6:2193:14348:4951,LH00995:48:23YTGFLT4:6:2396:26742:19468,LH00995:48:23YTGFLT4:6:2473:2003:3887,LH00995:48:23YTGFLT4:7:2240:38724:2611,LH00995:48:23YTGFLT4:4:2408:27835:28478

PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6256

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(17),low_entropy(1)

GCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACA

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN

LH00995:48:23YTGFLT4:1:1409:35795:23378,LH00995:48:23YTGFLT4:2:1285:8556:23588,LH00995:48:23YTGFLT4:3:1122:11711:20954,LH00995:48:23YTGFLT4:4:2280:35455:8581,LH00995:48:23YTGFLT4:5:2165:31418:7950,LH00995:48:23YTGFLT4:5:2423:30448:2990,LH00995:48:23YTGFLT4:5:2472:12577:11383,LH00995:48:23YTGFLT4:6:1481:42477:4125,LH00995:48:23YTGFLT4:8:1253:51279:19762,LH00995:48:23YTGFLT4:8:1253:51296:19762,LH00995:48:23YTGFLT4:8:1253:51304:19748,LH00995:48:23YTGFLT4:8:1342:22414:29459,LH00995:48:23YTGFLT4:8:2150:12156:1743,LH00995:48:23YTGFLT4:1:2334:20416:7249,LH00995:48:23YTGFLT4:1:2352:39096:29207,LH00995:48:23YTGFLT4:1:2368:31030:16133,LH00995:48:23YTGFLT4:2:2135:36782:29291,LH00995:48:23YTGFLT4:2:2235:44346:7698,LH00995:48:23YTGFLT4:3:2155:37923:1308,LH00995:48:23YTGFLT4:4:1228:3492:1448,LH00995:48:23YTGFLT4:4:1371:26306:26979,LH00995:48:23YTGFLT4:4:2319:30245:9954,LH00995:48:23YTGFLT4:4:2489:47445:19622,LH00995:48:23YTGFLT4:5:1211:7707:23153,LH00995:48:23YTGFLT4:5:2130:35641:26867,LH00995:48:23YTGFLT4:5:2149:38376:16498,LH00995:48:23YTGFLT4:6:1106:41215:18641,LH00995:48:23YTGFLT4:6:1120:15878:26264,LH00995:48:23YTGFLT4:6:1120:15886:26278,LH00995:48:23YTGFLT4:6:1139:13127:18137,LH00995:48:23YTGFLT4:7:2371:2764:15825,LH00995:48:23YTGFLT4:8:1172:51174:25073,LH00995:48:23YTGFLT4:8:2113:45058:12378

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6256

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(17),low_entropy(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6256

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(17),low_entropy(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN

PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6256

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(17),low_entropy(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6256

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(17),low_entropy(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6256

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(17),low_entropy(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6256

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(17),low_entropy(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6256

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(17),low_entropy(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6256

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(17),low_entropy(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

6256

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(17),low_entropy(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPN

LINC02875

TBX4

+/+

chr17:61412989

chr17:61456488

exon

5'UTR/splice-site

deletion/read-through

384

medium

|T-box(100%)

ENSG00000187013.4

ENSG00000121075.11

ENST00000623772.1

ENST00000644296.1

downstream

upstream

duplicates(9)

CCTTCCAGGCTGCTGCAGACCCCAGCTTGTCCTCTTCTGCGCGCCCGCGGGGCTGGGCCCTCGCGTTCTtTCTGCGGGAAGTGAGCCGCCGGCCTCCGGCCTCCTGGGCCCCTCCGAAGGGGGCTGTGGCTGGCATCCGCAGCGCGCGGGGCGCACGGCCCTAGGAGCGCGGGGCCCACTCGACG|GAGATGCTGCAGGATAAGGGCCTGTCCGAGAGCGAGGAGGCCTTCCGGGCCCCGGGCCCAGCGCTCGGAGAGGCCAGCGCAGCCAACGCCCCCGAGCCCGCGCTGGCAGCGCCGGGCCTCAGCGGAGCCGCGCTAGGCA

LH00995:48:23YTGFLT4:1:1395:15052:17240,LH00995:48:23YTGFLT4:1:2498:19122:19300,LH00995:48:23YTGFLT4:4:1108:6097:6241,LH00995:48:23YTGFLT4:4:2253:19065:2107,LH00995:48:23YTGFLT4:5:1480:36556:23153,LH00995:48:23YTGFLT4:5:2167:26362:19734,LH00995:48:23YTGFLT4:6:1471:49613:3844,LH00995:48:23YTGFLT4:6:2474:41636:5610,LH00995:48:23YTGFLT4:1:2469:26055:14326,LH00995:48:23YTGFLT4:2:1187:5797:13653,LH00995:48:23YTGFLT4:3:1215:35342:4097,LH00995:48:23YTGFLT4:3:1475:6776:15769,LH00995:48:23YTGFLT4:4:1324:7189:12056,LH00995:48:23YTGFLT4:4:2240:13928:9800,LH00995:48:23YTGFLT4:5:1186:34023:9884,LH00995:48:23YTGFLT4:5:1186:34031:9898,LH00995:48:23YTGFLT4:5:1293:8038:20757,LH00995:48:23YTGFLT4:6:1395:17560:3116,LH00995:48:23YTGFLT4:6:2488:45414:9828,LH00995:48:23YTGFLT4:8:1268:18685:17198,LH00995:48:23YTGFLT4:8:1339:32842:12126,LH00995:48:23YTGFLT4:8:2137:6890:22355

C1QTNF3

AMACR

-/-

chr5:34020587

chr5:34005899

CDS

CDS/splice-site

deletion/read-through

287

1509

medium

out-of-frame

C1q_domain(100%),Collagen_triple_helix_repeat_(20_copies)(100%)|CoA-transferase_family_III(77%),Lyase(100%)

ENSG00000082196.21

ENSG00000242110.8

ENST00000382065.8

ENST00000335606.11

upstream

downstream

duplicates(3)

AAGCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTGGCCA

KLAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcqaewiwpvrkllpvsw

LH00995:48:23YTGFLT4:1:1377:40884:20925,LH00995:48:23YTGFLT4:2:1349:38546:2191,LH00995:48:23YTGFLT4:2:1349:38554:2205,LH00995:48:23YTGFLT4:3:1313:13531:28114,LH00995:48:23YTGFLT4:3:2123:37996:26628,LH00995:48:23YTGFLT4:5:2113:46118:13737,LH00995:48:23YTGFLT4:6:2354:32988:25886,LH00995:48:23YTGFLT4:7:1297:13831:1701,LH00995:48:23YTGFLT4:8:1455:45107:15629,LH00995:48:23YTGFLT4:1:1439:7254:16035,LH00995:48:23YTGFLT4:2:1492:3330:8903,LH00995:48:23YTGFLT4:2:2484:50964:16638,LH00995:48:23YTGFLT4:4:2227:21257:28212,LH00995:48:23YTGFLT4:4:2228:11517:6437,LH00995:48:23YTGFLT4:4:2229:20497:10837,LH00995:48:23YTGFLT4:6:1483:39063:24947

C1QTNF3

AMACR

-/-

chr5:34023909

chr5:34005899

CDS/splice-site

deletion/read-through

358

1509

low

out-of-frame

C1q_domain(61%),Collagen_triple_helix_repeat_(20_copies)(100%)|CoA-transferase_family_III(77%),Lyase(100%)

ENSG00000082196.21

ENSG00000242110.8

ENST00000382065.8

ENST00000335606.11

upstream

downstream

duplicates(1)

GGCCCCAGTATCAG___GTGTGTATTTCTTCACCTTCAGCATGATGAAGCATGAGGATGTTGAGGAAGTGTATGTGTACCTTATGCACAATGGCAACACAGTCTTCAGCATGTACAG|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCA

APVSGVYFFTFSMMKHEDVEEVYVYLMHNGNTVFSMYr|chgetpagprdsaagks

LH00995:48:23YTGFLT4:7:2301:24178:13681,LH00995:48:23YTGFLT4:3:1185:15546:19833,LH00995:48:23YTGFLT4:3:1185:15562:19833

THAP4

AP003398.2

-/-

+/-

chr2:241601896

chr11:81026454

CDS/splice-site

intron

translocation/5'-5'

7052

medium

out-of-frame

THAP4-like__heme-binding_beta-barrel_domain(76%),THAP_domain(100%)|

ENSG00000176946.12

ENSG00000285568.1

ENST00000407315.6

upstream

downstream

duplicates(7)

GCACAGAGAGTGTGGCTTCATTCGCCTCAAGCCCGACACCAACAAGGTGGCCTTTGTCAGCGCCCAGAACACAG___GCGTGGTGGAAGTGGAGGAGGGCGAGGTGAACGGGCAGGAGCTGTGCATCGCATCCCACTCCATCGCCAGGATCTCCTTCGCCAAGGAGCCCCACGTAGAGCAG|GAGGAAGCATAAAAAATGAAAGATCACCAGACTTCAACATCTGAGACCCAAACATTCACAAGACTCCATATTAATCAACTCTGGAGAGCAACATCTAAACTCAATGATGAGCA

HRECGFIRLKPDTNKVAFVSAQNTGVVEVEEGEVNGQELCIASHSIARISFAKEPHVEQ|eea*

LH00995:48:23YTGFLT4:1:2308:3120:12854,LH00995:48:23YTGFLT4:2:1182:20068:27301,LH00995:48:23YTGFLT4:2:2276:50624:27820,LH00995:48:23YTGFLT4:2:2427:21848:11551,LH00995:48:23YTGFLT4:3:1275:35447:27427,LH00995:48:23YTGFLT4:3:2316:24113:28702,LH00995:48:23YTGFLT4:3:2320:3977:18796,LH00995:48:23YTGFLT4:4:2450:36353:21430,LH00995:48:23YTGFLT4:5:2368:29315:15012,LH00995:48:23YTGFLT4:5:2474:19380:26839,LH00995:48:23YTGFLT4:6:1148:47420:7390,LH00995:48:23YTGFLT4:6:1291:27616:25690,LH00995:48:23YTGFLT4:6:1291:27624:25704,LH00995:48:23YTGFLT4:6:2466:14664:21976,LH00995:48:23YTGFLT4:7:2479:51927:14578,LH00995:48:23YTGFLT4:8:1109:5458:7712,LH00995:48:23YTGFLT4:1:2215:37065:1280,LH00995:48:23YTGFLT4:4:2196:29800:17731

AC068769.1

KLHL6

+/-

-/-

chr3:183615710

chr3:183528010

exon

CDS/splice-site

deletion/read-through/3'-3'

559

medium

|BTB/POZ_domain(66%),BTB_And_C-terminal_Kelch(100%),Kelch_motif(100%)

ENSG00000243584.1

ENSG00000172578.12

ENST00000341319.8

upstream

downstream

duplicates(1)

ATTAGCCTACCCTGAAGCCCCATGGTCCAGATTCAATTTCTAGAGCCTTCTACTGCTTACAGGGCCTGTGTGGTTGCCATGAGCAGAAACACTGTTCATCTTGTGCCCAGTCCATATCAG|GGCCATGTTCTGCAACGATTTAAAGGAAAAGTATGAGAAAAGGATCATTATTAAAGGGGTTGATGCTGAGACCATGCACACTCTGTTGGACTACACGTACACCAGCAAGGCGCTGATCACCAAGCA

LH00995:48:23YTGFLT4:3:2147:36798:22621,LH00995:48:23YTGFLT4:4:1375:34695:20659,LH00995:48:23YTGFLT4:4:2407:35585:18978,LH00995:48:23YTGFLT4:5:2266:1882:7544,LH00995:48:23YTGFLT4:5:2333:33619:28800,LH00995:48:23YTGFLT4:6:2424:36272:19917,LH00995:48:23YTGFLT4:8:1134:6339:11817,LH00995:48:23YTGFLT4:1:1149:19300:28464,LH00995:48:23YTGFLT4:4:2267:11913:23434,LH00995:48:23YTGFLT4:5:1353:8645:21360,LH00995:48:23YTGFLT4:7:1493:18167:3887

PCDHGA3

PCDHGA8

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(11)

ATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGA

IFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

LH00995:48:23YTGFLT4:3:2303:27551:6044,LH00995:48:23YTGFLT4:4:2396:40107:12966,LH00995:48:23YTGFLT4:4:2452:32907:9772,LH00995:48:23YTGFLT4:5:2157:23094:17913,LH00995:48:23YTGFLT4:6:2392:15344:27806,LH00995:48:23YTGFLT4:7:1188:34994:26390,LH00995:48:23YTGFLT4:2:1251:11064:27063,LH00995:48:23YTGFLT4:2:2362:40738:15769,LH00995:48:23YTGFLT4:2:2363:50940:10066,LH00995:48:23YTGFLT4:3:2223:20497:20393,LH00995:48:23YTGFLT4:4:1167:37195:26755,LH00995:48:23YTGFLT4:4:1179:24251:26811,LH00995:48:23YTGFLT4:4:2147:31912:14970,LH00995:48:23YTGFLT4:4:2296:47388:6297,LH00995:48:23YTGFLT4:5:1317:40131:19734,LH00995:48:23YTGFLT4:5:2159:13483:17324,LH00995:48:23YTGFLT4:6:1263:48828:15517,LH00995:48:23YTGFLT4:6:1404:22576:23181,LH00995:48:23YTGFLT4:7:1464:47550:29053,LH00995:48:23YTGFLT4:7:2424:42494:11103,LH00995:48:23YTGFLT4:8:1231:27365:7460

PCDHGA3

PCDHGB6

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(11)

IFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGA3

PCDHGC4

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(11)

IFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGA3

PCDHGC5

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(11)

IFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGA3

PCDHGA9

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(11)

IFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGA3

PCDHGA11

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(11)

IFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGA3

PCDHGC3

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(11)

IFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGA3

PCDHGA10

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(11)

IFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGA3

PCDHGA12

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(11)

IFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGA3

PCDHGB7

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(11)

IFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),low_entropy(1)

TCCCTCACCGCGGACTCGAGGAAGAGTCACCTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCC

SLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

LH00995:48:23YTGFLT4:1:1455:23345:7165,LH00995:48:23YTGFLT4:1:2387:12512:1126,LH00995:48:23YTGFLT4:3:2350:40010:13275,LH00995:48:23YTGFLT4:3:2350:40018:13289,LH00995:48:23YTGFLT4:4:1196:48658:16988,LH00995:48:23YTGFLT4:4:1396:23943:24961,LH00995:48:23YTGFLT4:4:2106:9325:21808,LH00995:48:23YTGFLT4:4:2340:40900:22495,LH00995:48:23YTGFLT4:4:2386:45301:7306,LH00995:48:23YTGFLT4:4:2386:45309:7292,LH00995:48:23YTGFLT4:4:2414:51530:7249,LH00995:48:23YTGFLT4:5:1227:50470:18950,LH00995:48:23YTGFLT4:5:2469:36653:27301,LH00995:48:23YTGFLT4:6:1116:26055:25367,LH00995:48:23YTGFLT4:6:1326:5538:11299,LH00995:48:23YTGFLT4:7:1157:5506:16764,LH00995:48:23YTGFLT4:7:1157:5514:16750,LH00995:48:23YTGFLT4:7:2181:9891:8104,LH00995:48:23YTGFLT4:7:2256:19146:8216,LH00995:48:23YTGFLT4:7:2467:51118:21360,LH00995:48:23YTGFLT4:7:2467:51126:21346,LH00995:48:23YTGFLT4:7:2467:51134:21360,LH00995:48:23YTGFLT4:1:1407:37154:19790,LH00995:48:23YTGFLT4:1:2231:37267:13933,LH00995:48:23YTGFLT4:1:2385:37049:23588,LH00995:48:23YTGFLT4:3:1446:32996:7292,LH00995:48:23YTGFLT4:3:2125:2715:27343,LH00995:48:23YTGFLT4:3:2295:47008:7067,LH00995:48:23YTGFLT4:6:2442:2092:22733,LH00995:48:23YTGFLT4:8:1461:27713:4615

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),low_entropy(1)

SLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),low_entropy(1)

SLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),low_entropy(1)

SLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),low_entropy(1)

SLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),low_entropy(1)

SLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),low_entropy(1)

SLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),low_entropy(1)

SLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),low_entropy(1)

SLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6256

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(20),low_entropy(1)

SLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

385

557

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(6),mismatches(2)

TTATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCC?AGAACCCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAACTCTG___GCCCTCAC

LH00995:48:23YTGFLT4:2:1235:14915:7193,LH00995:48:23YTGFLT4:7:1285:22277:13891,LH00995:48:23YTGFLT4:1:1389:24437:1238,LH00995:48:23YTGFLT4:2:1305:36928:5078,LH00995:48:23YTGFLT4:2:1335:50292:21640,LH00995:48:23YTGFLT4:3:1310:13046:12644,LH00995:48:23YTGFLT4:4:1443:4131:2976,LH00995:48:23YTGFLT4:4:2253:19186:10444,LH00995:48:23YTGFLT4:4:2256:23943:16638,LH00995:48:23YTGFLT4:4:2304:23806:2079,LH00995:48:23YTGFLT4:5:1434:37672:28674,LH00995:48:23YTGFLT4:5:2440:48035:18599,LH00995:48:23YTGFLT4:6:2395:30205:11874,LH00995:48:23YTGFLT4:6:2445:14624:12630,LH00995:48:23YTGFLT4:8:1153:49589:20757,LH00995:48:23YTGFLT4:8:1235:1324:9856

STAT3(13124),CAVIN1(785)

RANBP1

./+

+/+

chr17:42401664

chr22:20126955

intergenic

CDS/splice-site

translocation

7828

medium

ENSG00000099901.17

ENST00000402752.5

downstream

upstream

duplicates(4)

GGGGGAGAGAGAGAGAGAAAAGAAAG|GATCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGAAGGAGGAGACCAAGGAGGATGCTGAGGA

LH00995:48:23YTGFLT4:2:2264:28433:24779,LH00995:48:23YTGFLT4:3:1163:30682:18866,LH00995:48:23YTGFLT4:3:1428:33295:7334,LH00995:48:23YTGFLT4:4:1109:34371:28394,LH00995:48:23YTGFLT4:4:1140:38085:3158,LH00995:48:23YTGFLT4:4:1144:15141:13163,LH00995:48:23YTGFLT4:4:1375:23814:1252,LH00995:48:23YTGFLT4:4:2395:32316:23434,LH00995:48:23YTGFLT4:5:1321:6242:6577,LH00995:48:23YTGFLT4:5:2321:8661:8665,LH00995:48:23YTGFLT4:7:2205:11210:19804

MEX3A

HNRNPD

-/+

-/-

chr1:156082052

chr4:82355401

5'UTR

CDS/splice-site

translocation/3'-3'

173

15884

medium

ENSG00000254726.3

ENSG00000138668.19

ENST00000313899.12

downstream

duplicates(6),mismatches(5)

GGGAGAGAGAGAGAGAGAGGTGGTG|ACCAGCAGAGTGGTTATGGGAAGGTATCCAGGCGAGGTGGTCATCAAAATAGCTACAAACCATACTAAATTATTCCATTTGCAACTTATCCCCAACAG___GTGGTGAAGCAGTATTTTCCAATTTGAA

LH00995:48:23YTGFLT4:1:1408:21848:18726,LH00995:48:23YTGFLT4:1:1433:51498:4251,LH00995:48:23YTGFLT4:1:2101:28215:7278,LH00995:48:23YTGFLT4:1:2180:17075:23910,LH00995:48:23YTGFLT4:1:2456:3144:17380,LH00995:48:23YTGFLT4:3:2196:47315:13401,LH00995:48:23YTGFLT4:3:2203:39614:2303,LH00995:48:23YTGFLT4:4:1247:15441:23798,LH00995:48:23YTGFLT4:4:2178:49330:10640,LH00995:48:23YTGFLT4:4:2367:27406:19104,LH00995:48:23YTGFLT4:6:1184:49378:20505,LH00995:48:23YTGFLT4:6:2205:34679:10150,LH00995:48:23YTGFLT4:7:1279:32122:28898,LH00995:48:23YTGFLT4:7:1279:32130:28912,LH00995:48:23YTGFLT4:7:2177:7205:24218,LH00995:48:23YTGFLT4:7:2303:25998:16722,LH00995:48:23YTGFLT4:8:1431:35698:3648

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000204967.12

ENSG00000248383.5

ENST00000672575.1

ENST00000253807.3

downstream

upstream

duplicates(7),mismatches(1)

GGCCGAGGGTGTGCTCTGGTGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGC

PRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

LH00995:48:23YTGFLT4:1:1487:16945:7712,LH00995:48:23YTGFLT4:2:2147:4252:26755,LH00995:48:23YTGFLT4:2:2426:7310:12714,LH00995:48:23YTGFLT4:3:1232:41822:12294,LH00995:48:23YTGFLT4:3:1263:5822:2822,LH00995:48:23YTGFLT4:3:2144:47833:4209,LH00995:48:23YTGFLT4:5:1252:46393:25648,LH00995:48:23YTGFLT4:6:2161:47234:28983,LH00995:48:23YTGFLT4:7:1276:6396:4489,LH00995:48:23YTGFLT4:7:2259:23587:8651,LH00995:48:23YTGFLT4:5:1286:38764:6269,LH00995:48:23YTGFLT4:5:1308:10805:22215,LH00995:48:23YTGFLT4:5:2232:3023:7838,LH00995:48:23YTGFLT4:7:2205:22074:28366

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:140982475

CDS/splice-site

deletion/read-through

1315

low

out-of-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(86%)

ENSG00000204967.12

ENSG00000248383.5

ENST00000672575.1

ENST00000253807.3

downstream

upstream

duplicates(2)

GCTCTGGTGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGG

SGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|lcaprggwhstgwsrr

LH00995:48:23YTGFLT4:3:1224:24696:7376,LH00995:48:23YTGFLT4:4:2245:46684:11131,LH00995:48:23YTGFLT4:5:2298:24323:19819

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000204967.12

ENSG00000243232.6

ENST00000672575.1

ENST00000289269.7

downstream

upstream

duplicates(7),mismatches(1)

PRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:140982475

CDS/splice-site

deletion/read-through

1315

low

out-of-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(86%)

ENSG00000204967.12

ENSG00000243232.6

ENST00000672575.1

ENST00000289269.7

downstream

upstream

duplicates(2)

GCTCTGGTGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGG

SGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|lcaprggwhstgwsrr

LH00995:48:23YTGFLT4:3:1224:24696:7376,LH00995:48:23YTGFLT4:4:2245:46684:11131,LH00995:48:23YTGFLT4:5:2298:24323:19819

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000204967.12

ENSG00000239389.8

ENST00000672575.1

ENST00000289272.3

downstream

upstream

duplicates(7),mismatches(1)

PRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:140982475

CDS/splice-site

deletion/read-through

1315

low

out-of-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(86%)

ENSG00000204967.12

ENSG00000239389.8

ENST00000672575.1

ENST00000289272.3

downstream

upstream

duplicates(2)

GCTCTGGTGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGG

SGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|lcaprggwhstgwsrr

LH00995:48:23YTGFLT4:3:1224:24696:7376,LH00995:48:23YTGFLT4:4:2245:46684:11131,LH00995:48:23YTGFLT4:5:2298:24323:19819

PCDHA3

PCDHAC1

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000255408.4

ENSG00000248383.5

ENST00000532566.3

ENST00000253807.3

downstream

upstream

duplicates(10)

CCCACGtTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGCAGCAGAGGGTGTGCTCTGGAGAGGGGTTGCCCAAGACCGACCTCATGGCTTTTAGCCCTAGCCTTCCTCCTTGTCCAATTAGCCGGGATAGAGAGGAGAAACAGGATGTGGACGTTGATCTCTCAGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCC

PTLVCSSAVGSWSYSQQRQQRVCSGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQW

LH00995:48:23YTGFLT4:1:2178:6040:5722,LH00995:48:23YTGFLT4:1:2396:44435:19566,LH00995:48:23YTGFLT4:6:2209:4293:25311,LH00995:48:23YTGFLT4:8:1275:50381:25858,LH00995:48:23YTGFLT4:8:1419:15433:4083,LH00995:48:23YTGFLT4:1:1449:39945:24541,LH00995:48:23YTGFLT4:2:2386:49936:20968,LH00995:48:23YTGFLT4:3:2328:35067:4994,LH00995:48:23YTGFLT4:4:1188:34250:5484,LH00995:48:23YTGFLT4:4:1188:34266:5484,LH00995:48:23YTGFLT4:4:1188:34274:5470,LH00995:48:23YTGFLT4:5:1416:16759:25606,LH00995:48:23YTGFLT4:7:2311:15295:3228,LH00995:48:23YTGFLT4:7:2340:8370:10178,LH00995:48:23YTGFLT4:8:1225:37300:26432

PCDHA3

PCDHAC2

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000255408.4

ENSG00000243232.6

ENST00000532566.3

ENST00000289269.7

downstream

upstream

duplicates(10)

PTLVCSSAVGSWSYSQQRQQRVCSGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQW

PCDHA3

PCDHA13

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000255408.4

ENSG00000239389.8

ENST00000532566.3

ENST00000289272.3

downstream

upstream

duplicates(10)

PTLVCSSAVGSWSYSQQRQQRVCSGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQW

SLFN11

SLFN12

-/-

chr17:35353336

chr17:35433062

CDS/splice-site

5'UTR

duplication

1590

medium

out-of-frame

Putative_DNA-binding_domain(100%),Schlafen_group_3__DNA/RNA_helicase_domain(56%)|Putative_DNA-binding_domain(100%)

ENSG00000172716.16

ENSG00000172123.13

ENST00000394566.5

ENST00000452764.3

upstream

downstream

duplicates(1)

TCTCCAGAAGCCTCCGCAAGAACAGAGAGTTGTTTGTCCACGGCTTACCTGGCTCAGGGAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACGTTTGTGAAAACCAGCCTCTGAGGAACTTTATCAG|AAAATACACATGGGTGAAAAAGAAACGAGAGCTCCCTAGAGATCACTCAGAGCTGTTTTCGTGGGTTTTTAACTTCCAGTTGCTCAAGGGTCCACGCTGGCATCTGGGGTGTGCTCG

SRSLRKNRELFVHGLPGSGKTIMAMKIMEKIRNVFHCEAHRILYVCENQPLRNFIr|kytwvkkkrelprdhselfswvfnfqllkgprwhlgca

LH00995:48:23YTGFLT4:2:2357:31208:19412,LH00995:48:23YTGFLT4:3:1458:1874:6072,LH00995:48:23YTGFLT4:4:1302:36361:24050,LH00995:48:23YTGFLT4:4:2435:50713:14073,LH00995:48:23YTGFLT4:5:2469:38222:21416,LH00995:48:23YTGFLT4:6:2275:40568:21836

TPTE2

MRPS31P2

-/-

chr13:19475573

chr13:19570288

CDS/splice-site

exon

duplication

medium

out-of-frame

ENSG00000132958.17

ENSG00000232894.1

ENST00000382978.5

ENST00000451581.1

upstream

downstream

duplicates(5),mismatches(2)

GCACCTGCGAAAGAAAG___CCCACACACAAGTGAATTTAAAGGAGCAGCCCTGGTGTCACCTATCAGTAAAAG___CAGCAAGATTAAGAAAATTGTGCATTCAATTGTATCATCCTTTGCATTTGG|AATTGAGTCCCTAAGTCCTGAGTTGGTGGCAGCTGCATCTGCTGTGGCAGATTCTCTCCCTTTTGACAAGCAAATAACCAAGTCAGAGCTGTTGAGGCAGCTCCAGCAGCATGAGGAAGAGTCAAGGGCAC

APAKESPHTSEFKGAALVSPISKsSKIKKIVHSIVSSFAFg|ieslspelvaaasavadslpfdkqitksellrqlqqheeesra

LH00995:48:23YTGFLT4:1:1311:20974:4461,LH00995:48:23YTGFLT4:1:2485:23474:25297,LH00995:48:23YTGFLT4:2:1213:29339:28450,LH00995:48:23YTGFLT4:3:2169:11234:20827,LH00995:48:23YTGFLT4:3:2442:3330:2261,LH00995:48:23YTGFLT4:4:1462:43011:10122,LH00995:48:23YTGFLT4:4:2349:8936:26516,LH00995:48:23YTGFLT4:5:1186:40115:8132,LH00995:48:23YTGFLT4:5:1186:40131:8132,LH00995:48:23YTGFLT4:5:2196:38198:17731,LH00995:48:23YTGFLT4:6:1111:22147:17310,LH00995:48:23YTGFLT4:6:2362:4641:7726

CT83

AGTR2(218431),RNU6-154P(7443)

-/-

./-

chrX:116462782

chrX:116393405

CDS/splice-site

intergenic

deletion/read-through

2997

medium

out-of-frame

Kita-kyushu_lung_cancer_antigen_1(1%)|

ENSG00000204019.5

ENST00000371894.5

upstream

downstream

duplicates(4)

TTCCCAAATCCAGGCGGCTAGAGGCCCACTGCTTCCCAACTACCAGCTGAGGGGGTCCGTCCCGAGAAGGGAGAAGAGGCCGAAGAGGAAACATGAACTTCTATTTACTCCTAGCGAGCAGCATTCTGTGTGCCTTGATTGTCTTCTGGAAATATCGCCGCTTTCAG|AGTCTCACCCTGTTGCCCAGGTTGGAGTGCAGCTGCTGGATCTCGGCTCACTGCAACCTCGCCTC

MNFYLLLASSILCALIVFWKYRRFQ|sltllprlecscwisahcnla

LH00995:48:23YTGFLT4:7:2112:3726:1967,LH00995:48:23YTGFLT4:1:1337:40989:2780,LH00995:48:23YTGFLT4:2:1147:5943:5302,LH00995:48:23YTGFLT4:3:1367:35892:4377,LH00995:48:23YTGFLT4:5:1125:1227:23924,LH00995:48:23YTGFLT4:5:1425:32591:11075,LH00995:48:23YTGFLT4:6:1311:33562:14130,LH00995:48:23YTGFLT4:6:2123:14332:5652,LH00995:48:23YTGFLT4:7:2377:49281:21234

ANKRD54

BAIAP2L2

-/-

chr22:37843911

chr22:38087264

CDS/splice-site

duplication

1206

379

medium

out-of-frame

|Variant_SH3_domain(23%)

ENSG00000100124.15

ENSG00000128298.18

ENST00000215941.9

ENST00000381669.8

upstream

downstream

duplicates(1)

CCGGCGGGGCCCAGTCGCCGCTGCGCTACTTGCACGTCCTGTGGCAGCAGGATGCGGAGCCGCGCGACGAGCTGCGCTGCAAGATACCCGCTGGCCGGCTGAGGCGCGCTGCCAGGCCCCACCGGCGGCTCGGGCCCACGGGCAAGGAGGTGCACG|GAGCGGTTGGTTCCCCGAGGCGTACGTGAAGGCTCTGGAGGAGGGGCCCGTGAATCCCATGACCCCCGTGACCCCCATGACCTCCATGACCTCCATGTCCCCCATGACACCCATGAACCCCGGGAACGAGCTGCC

GGAQSPLRYLHVLWQQDAEPRDELRCKIPAGRLRRAARPHRRLGPTGKEVH|gavgsprrt*

LH00995:48:23YTGFLT4:7:2307:49297:1140,LH00995:48:23YTGFLT4:7:2407:10336:14620,LH00995:48:23YTGFLT4:1:2303:32535:3830,LH00995:48:23YTGFLT4:3:2361:7173:18333,LH00995:48:23YTGFLT4:6:1219:28474:20925

ANKRD54

BAIAP2L2

-/-

chr22:37843911

chr22:38089674

CDS/splice-site

duplication

1206

566

medium

out-of-frame

|IRSp53/MIM_homology_domain(10%),Variant_SH3_domain(100%)

ENSG00000100124.15

ENSG00000128298.18

ENST00000215941.9

ENST00000381669.8

upstream

downstream

duplicates(2)

GCCGCGCGACGAGCTGCGCTGCAAGATACCCGCTGGCCGGCTGAGGCGCGCTGCCAGGCCCCACCGGCGGCTCGGGCCCACGGGCAAGGAGGTGCACG|GCCCGGGGGATGCTCCAGAACCGCGTGCTGCTGTGGAAGGAGCAGTCTGAGGCCAGCCGCAGCCCGTCGCGCGCCCACTCCCCCGGCCTGCTGGGCCCCGtGCTGGGGCCGCCCTACCC

PRDELRCKIPAGRLRRAARPHRRLGPTGKEVH|gpgdapepraavegav*

LH00995:48:23YTGFLT4:1:1219:7666:18095,LH00995:48:23YTGFLT4:3:1103:50996:3887,LH00995:48:23YTGFLT4:4:2252:32810:10921,LH00995:48:23YTGFLT4:5:2423:3791:8805

CDRT4(12453),TVP23C(14083)

CDRT4

./-

-/-

chr17:15488181

chr17:15438200

intergenic

CDS/splice-site

deletion/read-through

502

medium

|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000239704.11

ENST00000619038.5

upstream

downstream

duplicates(1)

TTTCATCTCGGGGAACCAGGACTCCACTGGATTCATTTTGACCTAGGGCAGTGGAAAGGGAGGGGAGGAAGAGCTTTGACTTTGGAAAAGCCAGCGCCTGCTAAGGAGTTCAGGATTGCATCCCACAGGCAGTGGCAGCAGTG|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAACTAGAGAACTGGAATGCATGCGTGCCCTCGAGGAAAGACCCTGGGCATCAAGGCAGAATAAACCTTCCAGCGTCATTCAGCCGAAAAG

LH00995:48:23YTGFLT4:1:2421:20440:27637,LH00995:48:23YTGFLT4:3:1164:31661:5232,LH00995:48:23YTGFLT4:3:2217:28708:4377,LH00995:48:23YTGFLT4:1:2197:50074:15797,LH00995:48:23YTGFLT4:1:2305:40075:10528

PCDHA10

PCDHAC1

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000250120.8

ENSG00000248383.5

ENST00000562220.2

ENST00000253807.3

downstream

upstream

duplicates(8),low_entropy(2)

GTTCTGGGGAGGGCCTGCCCAAGGCGGACCTCATGGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAGGGGACCACTCTAGGAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTAC

SGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGIL

LH00995:48:23YTGFLT4:1:2115:2165:5064,LH00995:48:23YTGFLT4:2:2182:15554:18557,LH00995:48:23YTGFLT4:3:1449:21087:12476,LH00995:48:23YTGFLT4:3:1482:49370:4321,LH00995:48:23YTGFLT4:3:1482:49378:4307,LH00995:48:23YTGFLT4:3:2111:37284:18810,LH00995:48:23YTGFLT4:4:1163:16533:14900,LH00995:48:23YTGFLT4:6:2448:9446:16834,LH00995:48:23YTGFLT4:7:2119:5757:1897,LH00995:48:23YTGFLT4:4:1442:20513:5204,LH00995:48:23YTGFLT4:7:1103:30771:15517,LH00995:48:23YTGFLT4:7:1255:50713:20659,LH00995:48:23YTGFLT4:7:2176:23336:7740,LH00995:48:23YTGFLT4:7:2176:23353:7740

PCDHA10

PCDHAC2

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000250120.8

ENSG00000243232.6

ENST00000562220.2

ENST00000289269.7

downstream

upstream

duplicates(8),low_entropy(2)

SGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGIL

ZMIZ1

AC140847.2

+/+

-/-

chr10:79293653

chr12:34219275

CDS/splice-site

intergenic

translocation

1608

medium

out-of-frame

Zmiz1_N-terminal_tetratricopeptide_repeat_domain(100%)|

ENSG00000108175.18

ENSG00000255652.4

ENST00000334512.10

ENST00000660987.1

downstream

duplicates(1)

CCAGTATGGACCG___ATGGGTCCCACCCAGGCGTATAACAGCCAATTCATGAACCAGCCCGGGCCGCGGGGGCCTGCCTCCATGGGGGGCAGCATGAACCCCGCGAGCATGGCGGCTGGCATGACGCCCTCGGGGATGAGCGGCCCTCCCATGGGCATGAACCAGCCCCGGCCGCCCGGCATCAGCCCCTTTGGCACACACGGGCAGCGGATGCCCCAGCAGACCTACCCGGGCCCCCGGCCCCAGTCCCTTCCTATTCAGAACATAAAGAGGCCATACCCTGGAGAG|TTTCCTCGCCCGCTCATGCCCACCGGACCCGGAGCCCCGAAGCACGCAGCAGGTGTCCCTCCCGAGAGACCACTGGTGCCCGCTGTGTCTTCGGGAGGCG

QYGPMGPTQAYNSQFMNQPGPRGPASMGGSMNPASMAAGMTPSGMSGPPMGMNQPRPPGISPFGTHGQRMPQQTYPGPRPQSLPIQNIKRPYPGE|fprplmptgpgapkhaagvpperplvpavssgg

LH00995:48:23YTGFLT4:2:2402:22625:10963,LH00995:48:23YTGFLT4:3:1166:17350:20435,LH00995:48:23YTGFLT4:3:1174:51433:18263,LH00995:48:23YTGFLT4:3:1262:29930:11369,LH00995:48:23YTGFLT4:3:1262:29938:11355

ZMIZ1

AC140847.2

+/+

-/-

chr10:79293653

chr12:34191432

CDS/splice-site

exon/splice-site

translocation

1608

low

out-of-frame

Zmiz1_N-terminal_tetratricopeptide_repeat_domain(100%)|

ENSG00000108175.18

ENSG00000255652.4

ENST00000334512.10

ENST00000656327.1

downstream

GGATGCCCCAGCAGACCTACCCGGGCCCCCGGCCCCAGTCCCTTCCTATTCAGAACATAAAGAGGCCATACCCTGGAGAG|ATACCCAGCCGTGGGATTGCTAGATC

MPQQTYPGPRPQSLPIQNIKRPYPGE|ipsrgiar

LH00995:48:23YTGFLT4:4:2184:12221:7600

ZMIZ1

AC140847.2

+/+

-/-

chr10:79293653

chr12:34212021

CDS/splice-site

exon/splice-site

translocation

1608

low

out-of-frame

Zmiz1_N-terminal_tetratricopeptide_repeat_domain(100%)|

ENSG00000108175.18

ENSG00000255652.4

ENST00000334512.10

ENST00000660987.1

downstream

duplicates(2)

CACACGGGCAGCGGATGCCCCAGCAGACCTACCCGGGCCCCCGGCCCCAGTCCCTTCCTATTCAGAACATAAAGAGGCCATACCCTGGAGAG|TCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGAGATCTCGGGGAAAAACGTG

HGQRMPQQTYPGPRPQSLPIQNIKRPYPGE|sssvaqagvqw*

LH00995:48:23YTGFLT4:1:1336:18838:24302,LH00995:48:23YTGFLT4:5:2175:4471:26965,LH00995:48:23YTGFLT4:7:2303:46142:26642

ZMIZ1

AC010996.1(67440),AC025039.1(163809)

+/+

./+

chr10:79293653

chr10:56432154

CDS/splice-site

intergenic

duplication

1608

medium

out-of-frame

Zmiz1_N-terminal_tetratricopeptide_repeat_domain(100%)|

ENSG00000108175.18

ENST00000334512.10

downstream

upstream

duplicates(3)

CGGGGGCCTGCCTCCATGGGGGGCAGCATGAACCCCGCGAGCATGGCGGCTGGCATGACGCCCTCGGGGATGAGCGGCCCTCCCATGGGCATGAACCAGCCCCGGCCGCCCGGCATCAGCCCCTTTGGCACACACGGGCAGCGGATGCCCCAGCAGACCTACCCGGGCCCCCGGCCCCAGTCCCTTCCTATTCAGAACATAAAGAGGCCATACCCTGGAGAG|ATGCTACATGAACTCAAGTGGAACTCTGACTACCTTGAGAGCTGAATAAAATGCATCCCACCATCCAGTGCTTCTGCATCAGGGTATTAAAAAGAGAGACAGAAGGAAGAGAC

RGPASMGGSMNPASMAAGMTPSGMSGPPMGMNQPRPPGISPFGTHGQRMPQQTYPGPRPQSLPIQNIKRPYPGE|mlhelkwnsdyles*

LH00995:48:23YTGFLT4:3:1413:48836:8160,LH00995:48:23YTGFLT4:3:1429:6582:4419,LH00995:48:23YTGFLT4:3:1429:6590:4405,LH00995:48:23YTGFLT4:4:2491:11582:12182,LH00995:48:23YTGFLT4:7:2325:49872:23434,LH00995:48:23YTGFLT4:7:2353:4187:17422,LH00995:48:23YTGFLT4:8:1240:31613:4839

LINC02357

RANBP1

+/+

chr4:26095649

chr22:20126950

intron

3'UTR/splice-site

translocation

7828

medium

ENSG00000283314.1

ENSG00000099901.17

ENST00000435265.5

downstream

upstream

duplicates(3)

GGGGGAGAGAGAGAGAGAGAAAAGAA|AGCAGGATCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGAAGGAGGAG

LH00995:48:23YTGFLT4:1:1249:46539:13205,LH00995:48:23YTGFLT4:2:1144:50228:5918,LH00995:48:23YTGFLT4:3:1466:11760:26446,LH00995:48:23YTGFLT4:3:1466:11768:26432,LH00995:48:23YTGFLT4:3:1495:9454:25479,LH00995:48:23YTGFLT4:3:2158:8451:1995,LH00995:48:23YTGFLT4:8:1188:2982:26769

PCDHA10

PCDHA13

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000250120.8

ENSG00000239389.8

ENST00000562220.2

ENST00000289272.3

downstream

upstream

duplicates(8),low_entropy(2)

SGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGIL

NOM1(19768),MNX1(1107)

MNX1

./-

-/-

chr7:156992944

chr7:156994181

intergenic

CDS/splice-site

duplication

medium

ENSG00000130675.15

ENST00000479817.1

upstream

downstream

duplicates(2)

ATCCCGCTCTCTCCTGGTGCCTTGCCCGTGATGCCTCAGAGTTCTGAGGAAGACCAGACCCATCCAGAACCTTCTGGGGGAACAGCCCTCTGCCCGTCCGT|GTAAAGAAGGCACAGACACCCTCACCTCCTGCACTCTAGGCAGCTTCCAGAATTGACTAAAAATATCCCGAGAGCTTTCCAGGAAGCCGCAGGGAGCCCTCGACCTGTTTGAATCTCTGGCTGCCGGTGGATTGGCGGGTCACTCCCATGTCCCAGCTCCCGCCTGCAGGTGCCTCCAGAGATGCTGCC

LH00995:48:23YTGFLT4:1:1387:21346:10991,LH00995:48:23YTGFLT4:1:1396:34485:6703,LH00995:48:23YTGFLT4:1:2375:48310:19300,LH00995:48:23YTGFLT4:2:1171:38570:22131,LH00995:48:23YTGFLT4:2:1177:38093:4293,LH00995:48:23YTGFLT4:3:2287:18555:27960

MRPL15

AKAP12

+/+

chr8:54142786

chr6:151348711

CDS/splice-site

translocation

834

19735

medium

in-frame

Ribosomal_proteins_50S-L15__50S-L18e__60S-L27A(100%)|RII_binding_domain(100%),WSK_motif(100%)

ENSG00000137547.9

ENSG00000131016.17

ENST00000260102.9

ENST00000402676.7

downstream

upstream

duplicates(10)

TGTTGATCCTAGTCAACCTATTGACTTAACCCAGCTTGTCAATGGGAGAGGTGTGACCATCCAGCCACTTAAAAGGGATTATGGTGTCCAGCTGGTTGAGGAG___GGTGCTGACACCTTTACGGtAAAAGTTAATATTGAAGTACAGTTGGCTTCAGAACTAGCTATTGCTGCCATTGAAAAAAATGGTGGTGTTGTTACTACAGCCTTCTATGATCCAAGAAGTCTGG|TTGGACAGAGAGACTCTGAAGATGTGAGCgAAAGAGACTCCGATAAAGAGATGGCTACTAAGTCAGCGGTTGTTCACGACATCACAGATGATGGGCAGGAGGAGACACCCGAAATAATCGAACAGATTCCTTCTTCAGAA

VDPSQPIDLTQLVNGRGVTIQPLKRDYGVQLVEEGADTFTvKVNIEVQLASELAIAAIEKNGGVVTTAFYDPRSL|vGQRDSEDVSeRDSDKEMATKSAVVHDITDDGQEETPEIIEQIPSS

LH00995:48:23YTGFLT4:1:1135:11501:25409,LH00995:48:23YTGFLT4:1:1291:36863:3368,LH00995:48:23YTGFLT4:1:1326:46911:1995,LH00995:48:23YTGFLT4:1:1326:46919:1981,LH00995:48:23YTGFLT4:2:1187:10215:18333,LH00995:48:23YTGFLT4:2:1221:29153:23560,LH00995:48:23YTGFLT4:3:1123:26160:21570,LH00995:48:23YTGFLT4:3:2248:40787:2906,LH00995:48:23YTGFLT4:3:2361:46183:7348,LH00995:48:23YTGFLT4:3:2414:47113:15657,LH00995:48:23YTGFLT4:3:2472:20699:22817,LH00995:48:23YTGFLT4:5:1421:9656:29165,LH00995:48:23YTGFLT4:1:1172:15643:14984,LH00995:48:23YTGFLT4:5:2379:31871:12826

SOX5

PERP

-/-

chr12:23781663

chr6:138096495

intron

translocation

15681

medium

|PMP-22/EMP/MP20/Claudin_family(65%)

ENSG00000134532.19

ENSG00000112378.12

ENST00000421351.4

upstream

downstream

duplicates(1)

GCGGGGGAGAGAGAGAGAGAGAGTAC|GCGTGGGGTAGAGCAGCGGCTGCCATGCTCTTCTGTGGCTTCATCATCCTGGTGATCTGTTTCATCCTCTCCTTCTTCGCCCTCTGTGGACCCCAGATGCTTGTCTTCCTGAGAGTGATTGGAGGTCTCCTTGCCTTGGCTG___CTGTGTTCCAGATCATCTCCCTGGTAATTTACCCCGTGAAGTACACCCAGACCTTCACCCTTCATGCCAACCgTGCTGTCAC

LH00995:48:23YTGFLT4:1:2478:48504:23308,LH00995:48:23YTGFLT4:5:1268:16347:4461,LH00995:48:23YTGFLT4:7:2135:5207:27231,LH00995:48:23YTGFLT4:7:2282:27851:5302,LH00995:48:23YTGFLT4:7:2394:13054:19776

ASAP1

SRRM2

-/+

+/+

chr8:130071004

chr16:2757473

intron

CDS/splice-site

translocation/3'-3'

9957

medium

|cwf21_domain(45%)

ENSG00000153317.15

ENSG00000167978.17

ENST00000301740.13

downstream

upstream

duplicates(1),mismatches(2)

GGGGGAGAGAGAGAGAGAGAGGGG|TACGAGGAACAGCAAATTCAGGAAAAAGTGGCGACCTTTCGACTCATGTTGCTGGAGAAGGATGTGAACCCTGGGGGCAAGGAGGAGACCCCAGGGCAGAGGCCAGC___GGTCACGGAGACTCACCAGTTGGCAGAATTAAATGAGAAGAAGAATGAAAGACTCCGTGCTGCCTTTGGCATCAGTGATTCTTACGTAGATGGCAGCTCTTTTGATCCTCAGCGTCGTGCCCGAGAAGCTAAACAACC

LH00995:48:23YTGFLT4:1:2241:25586:15335,LH00995:48:23YTGFLT4:3:1456:42534:10332,LH00995:48:23YTGFLT4:3:2351:7205:23602,LH00995:48:23YTGFLT4:4:2430:5183:29123,LH00995:48:23YTGFLT4:6:2302:32203:25900,LH00995:48:23YTGFLT4:7:1382:28838:15699

MUC20

SDHAP1

+/+

-/-

chr3:195721083

chr3:195986604

CDS/splice-site

exon/splice-site

inversion

22407

665

medium

out-of-frame

ENSG00000176945.17

ENSG00000185485.14

ENST00000436408.6

ENST00000427841.5

downstream

duplicates(6)

CTGTGGAGCAGCGGTGGCCGGCTAGGATGGGCTGTCTCTGGGGTCTGGCTCTGCCCCTTTTCTTCTTCTGCTGGGAGGTTGGGGTCTCTGGGAGCTCTGCAG|TGGCCAACAGTGTTGCAAACAGGAACCCGAGGTGTTCACTTCACTGTTGAAGGAACGAGAGGGCATCTGCTAAAGTTTCAGATTCC___ATTTCTGCTCAGTATCCAGTAGTGGATCATGAATTTGATGCAGTGGTGGTAGG

MGCLWGLALPLFFFCWEVGVSGSSA|vansvanrnprcslhc*

LH00995:48:23YTGFLT4:2:2170:3694:11187,LH00995:48:23YTGFLT4:3:1447:18313:1504,LH00995:48:23YTGFLT4:6:1136:34347:17899,LH00995:48:23YTGFLT4:6:1149:7173:19398,LH00995:48:23YTGFLT4:7:1327:50567:8244,LH00995:48:23YTGFLT4:8:1318:9519:6647,LH00995:48:23YTGFLT4:3:1197:34816:24569,LH00995:48:23YTGFLT4:3:1197:34824:24555,LH00995:48:23YTGFLT4:3:1264:19599:21164,LH00995:48:23YTGFLT4:6:2481:5013:6857

SCLT1

GIMD1(23485),LINC02173(41226)

-/-

./+

chr4:129082306

chr4:106392263

CDS/splice-site

intergenic

inversion

490

medium

out-of-frame

ENSG00000151466.12

ENST00000651532.1

upstream

duplicates(2)

GCACAGCAAGCTCTCTGTCTTTCAGAGGAAGGTAAAGGTGGTGAAAGCTCTAAACTAAAATTGTATCGAAATGGCTGCAGAAATCGACTTTCTGAGAGAGCAAA___ATCGAAGACTAAATGAAGATTTTAGGCGGTATCAAATGGAAAGTTTTTCCAAATATTCATCTGTACAG|GATCAAGGATGTGCATGGACCATGGTGCCCTCACCAATTCTCTTCTAAAGGACAGATTATACAGGCAACTGGCATGGGC

MAAEIDFLREQNRRLNEDFRRYQMESFSKYSSVQ|dqgcawtmvpspilf*

LH00995:48:23YTGFLT4:3:2455:15182:16203,LH00995:48:23YTGFLT4:4:2460:18580:23742,LH00995:48:23YTGFLT4:7:2463:21985:25522,LH00995:48:23YTGFLT4:8:1103:33886:14382,LH00995:48:23YTGFLT4:8:1250:25610:28941

AP003464.1(31383),MTND4LP18(89323)

GIT1

./-

-/-

chr11:81462903

chr17:29577742

intergenic

CDS/splice-site

translocation

2200

medium

|GIT_coiled-coil_Rho_guanine_nucleotide_exchange_factor(100%),G_protein-coupled_receptor_kinase-interacting_protein_1_C_term(100%),Spa2_homology_domain_(SHD)_of_GIT(50%)

ENSG00000108262.16

ENST00000225394.8

upstream

downstream

mismatches(2)

gGGGGAGAGAGAGAAAATGATgCAG|TGTGGCTGGCTACCCAAAACCACAGCACTCTGGTGACAGAGCGCAGTGCCGTGCCCTTCCTGCCTGTTAACCCGGAATACTCAGCCACGCGGAATCAGG

LH00995:48:23YTGFLT4:1:2229:34436:14830,LH00995:48:23YTGFLT4:3:2426:12698:28969,LH00995:48:23YTGFLT4:4:2345:14276:9842,LH00995:48:23YTGFLT4:5:2485:29849:22467,LH00995:48:23YTGFLT4:7:1475:29825:2639

TATDN2

AC139365.1(98991),AC118650.1(2255222)

+/+

./-

chr3:10260670

chr8:43773582

CDS/splice-site

intergenic

translocation

950

medium

out-of-frame

ENSG00000157014.11

ENST00000287652.8

downstream

CAGTGAGGAGCCCCTTGGGGACCGAAGGACTGTCATTGACAAATGCTCTCCACCCCTAGAGTTCTTGGATGACTCTGACTCTCATTTAGAAATCCAAAAG|GTGTCAAAGGGCTCCCAAATGTCTCTTCGCAGATTCTACATAAAGAGTGTTTTCATCAGCTGAATCAAAGGAAGC

SEEPLGDRRTVIDKCSPPLEFLDDSDSHLEIQK|vskgsqmslrrfyiksvfis*

LH00995:48:23YTGFLT4:3:1161:14632:16960,LH00995:48:23YTGFLT4:7:2394:24760:20687,LH00995:48:23YTGFLT4:6:1236:21816:14634

PCDHA6

PCDHAC1

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000081842.18

ENSG00000248383.5

ENST00000378126.4

ENST00000253807.3

downstream

upstream

duplicates(5),mismappers(1)

GCCCACCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGATCATGATGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGC

PPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRA

LH00995:48:23YTGFLT4:3:2292:16306:16245,LH00995:48:23YTGFLT4:7:1116:49661:1518,LH00995:48:23YTGFLT4:1:1251:26678:23504,LH00995:48:23YTGFLT4:2:2432:18264:23027,LH00995:48:23YTGFLT4:3:2301:24534:12644,LH00995:48:23YTGFLT4:4:2247:10473:27133,LH00995:48:23YTGFLT4:7:2169:38538:8567,LH00995:48:23YTGFLT4:7:2487:29800:13891,LH00995:48:23YTGFLT4:8:1321:18385:10178

PMS2P8

CCDC146

+/+

chr7:73041421

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

1728

152

medium

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

duplicates(1)

TGGGACTCGACTGGTGTTTGATCACGATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAGA

LH00995:48:23YTGFLT4:8:1433:50244:3144,LH00995:48:23YTGFLT4:2:1230:47615:8342,LH00995:48:23YTGFLT4:2:1230:47623:8356,LH00995:48:23YTGFLT4:5:2182:14203:4363

PMS2P8

CCDC146

+/+

chr7:73041421

chr7:77167658

exon/splice-site

5'UTR/splice-site

deletion

1728

225

low

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

mismatches(1)

TTTCAAAGGAATATTAAGAAG|AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGAGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCCCACAATTAACATTCAAGATGAGCGGTTTGTTGATTTATCTGAAACTCCAGCTTTCATTTTTCTGCATGAGGTATATTTTTCTT--TATGTTACTACAGTAAAACCCAACTCAACATG

LH00995:48:23YTGFLT4:7:1231:44079:15587

PCDHA6

PCDHAC2

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000081842.18

ENSG00000243232.6

ENST00000378126.4

ENST00000289269.7

downstream

upstream

duplicates(5),mismappers(1)

GCCCACCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGATCATGATGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGC

PPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRA

PCDHA6

PCDHA13

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

1360

medium

in-frame

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

ENSG00000081842.18

ENSG00000239389.8

ENST00000378126.4

ENST00000289272.3

downstream

upstream

duplicates(5),mismappers(1)

GCCCACCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGATCATGATGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGC

PPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRA

RPL23AP53

SEPTIN14

-/-

chr8:232129

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

627

medium

ENSG00000223508.5

ENSG00000154997.9

ENST00000606507.1

ENST00000388975.4

upstream

downstream

duplicates(1)

AGTGTCTCCGCCGGTTGAAAGCGCGTGTCTGCGTCGGGTTCTGTTGGAGTGCGTTCGGTGTGCCGTGGGTCCGCGCTGCTTCCACCCAACTTCCTGTTAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCAGCTGAGCACCGATACAAAGAAAGACAAACATCG

LH00995:48:23YTGFLT4:4:2470:4616:6114,LH00995:48:23YTGFLT4:5:1496:42526:26965,LH00995:48:23YTGFLT4:7:1117:45317:13359,LH00995:48:23YTGFLT4:7:1149:6347:10598

AC099552.4(35319),AC099552.2(7967)

RGL2

./-

-/-

chr7:155259170

chr6:33297117

intergenic

exon/splice-site

translocation

3553

medium

|RasGEF_N-terminal_motif(100%),RasGEF_domain(100%),Ras_association_(RalGDS/AF-6)_domain(100%)

ENSG00000237441.10

ENST00000460988.1

upstream

downstream

GAGAGAGAGAGAGGAGGAGGAAGAAGAAG|AGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTG___GTCCCTATGCC

LH00995:48:23YTGFLT4:5:1397:28611:24246,LH00995:48:23YTGFLT4:6:2230:15182:4293,LH00995:48:23YTGFLT4:8:1347:16937:7193

TVP23C

CDRT4(12606),TVP23C(13930)

-/-

./-

chr17:15540433

chr17:15488334

CDS/splice-site

intergenic

deletion/read-through

2095

medium

out-of-frame

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|

ENSG00000175106.17

ENST00000428082.6

upstream

downstream

duplicates(7),mismappers(1)

GCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|AGAACATCTACTTTCATCTCGGGGAACCAGGACTCCACTGGATTCATTTTGACCTAGGGCAGTGGAAAGGGAGGGGAGGAAGAGCTTTGACTTTGGAAAAGCCAGC

AESRIFWLGLIACSVLWVIFAFSALFSFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|rtstfisgnqdstgfilt*

LH00995:48:23YTGFLT4:2:2391:6267:14214,LH00995:48:23YTGFLT4:2:2391:6275:14200,LH00995:48:23YTGFLT4:3:2444:44273:19314,LH00995:48:23YTGFLT4:2:1369:11646:12182,LH00995:48:23YTGFLT4:2:1369:11655:12196,LH00995:48:23YTGFLT4:2:1369:11663:12182,LH00995:48:23YTGFLT4:4:2205:18410:18067,LH00995:48:23YTGFLT4:6:1284:24154:10444,LH00995:48:23YTGFLT4:7:1442:5369:16273,LH00995:48:23YTGFLT4:7:2456:10684:8665,LH00995:48:23YTGFLT4:8:1258:34646:6731

UPK3B

PMS2P2

+/+

-/-

chr7:76511882

chr7:75355688

CDS/splice-site

exon/splice-site

inversion

4090

469

medium

out-of-frame

ENSG00000243566.7

ENSG00000278416.1

ENST00000334348.8

ENST00000425039.3

downstream

duplicates(1)

AGCAGCCCTTCTGCAACGCGCCCCTCCCTGGCCCTGGACCCTATCG|TACAGAACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCCGGTGGTACTGAGTCTAAGCACTG-GaTGAAGAAGATAGTAGAAAACAGTCTGGATGCTGGTGCCaCTAATgTTG___ATCTAAAGCTTAAGGACTATGGAATGGATCTCATTGAAGTTTCAGGCAATGGATGTGGGGTAGAAGAAGAAAACTTCGAAGGCTTAA___TCTCTTTCAGCTCTG...___TCTCTTTCA

QPFCNAPLPGPGPYr|tepakaikpidrksvhqicsgpvvlslstg*

LH00995:48:23YTGFLT4:1:1193:33522:20757,LH00995:48:23YTGFLT4:1:1212:33667:23588,LH00995:48:23YTGFLT4:6:2394:16525:11243,LH00995:48:23YTGFLT4:7:1412:42461:22369

SCFD2

RANBP1

-/+

+/+

chr4:53007361

chr22:20126955

intron

CDS/splice-site

translocation/3'-3'

7828

medium

ENSG00000184178.16

ENSG00000099901.17

ENST00000402752.5

downstream

upstream

duplicates(1)

GGGAGAGAGAGAGAGAGAGAAAAGAAAG|GATCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGAAGGAGGAGACCAAGGAGGATGCTGAGGAGAAGCAATAAATCGTCTTATTTTATTTTCTTTTCC

LH00995:48:23YTGFLT4:1:1102:42041:28086,LH00995:48:23YTGFLT4:1:1119:27446:8805,LH00995:48:23YTGFLT4:5:1261:7415:20239,LH00995:48:23YTGFLT4:6:1403:45843:24863

AC107223.1

RANBP1

+/-

+/+

chr4:144235772

chr22:20126957

intron

CDS/splice-site

translocation/3'-3'

7828

medium

ENSG00000251600.8

ENSG00000099901.17

ENST00000402752.5

upstream

duplicates(1)

AGAGAGAGAGAGAGAGAGAAAAGAAAGGA|TCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGA

LH00995:48:23YTGFLT4:2:2281:14421:11607,LH00995:48:23YTGFLT4:4:1284:9826:1659,LH00995:48:23YTGFLT4:4:1423:43893:12770,LH00995:48:23YTGFLT4:8:1282:47704:11691

AC098588.3

RANBP1

-/-

+/+

chr4:144235772

chr22:20126957

intron

CDS/splice-site

translocation

7828

medium

ENSG00000285783.1

ENSG00000099901.17

ENST00000402752.5

upstream

duplicates(1)

AGAGAGAGAGAGAGAGAGAAAAGAAAGGA|TCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGA

LH00995:48:23YTGFLT4:2:2281:14421:11607,LH00995:48:23YTGFLT4:4:1284:9826:1659,LH00995:48:23YTGFLT4:4:1423:43893:12770,LH00995:48:23YTGFLT4:8:1282:47704:11691

AC008825.1

RANBP1

-/+

+/+

chr5:28764767

chr22:20126952

intron

CDS/splice-site

translocation/3'-3'

7828

medium

ENSG00000250453.2

ENSG00000099901.17

ENST00000430524.6

downstream

upstream

GGGGGAGAGAGAGAGAGAAAAGAAAG|CAGGATCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGAAGGAGGA

LH00995:48:23YTGFLT4:2:2262:18280:1560,LH00995:48:23YTGFLT4:2:2457:45042:12322,LH00995:48:23YTGFLT4:5:2177:35860:1575

PTPN12

AC128676.1(126691),RNU6-417P(609094)

+/+

./-

chr7:77537645

chr7:62402369

CDS/splice-site

intergenic

inversion

4752

medium

out-of-frame

ENSG00000127947.16

ENST00000248594.11

downstream

duplicates(1)

GGAGGATGGAGCAAGTGGAGATCCTGAGGAAATTCATCCAGAGGGTCCAGGCCATGAAGAGTCCTGACCACAATGGGGAGGACAACTTCGCCCGGGACTTCATG|ATGATTCCACATGATTGTAGTcGAAGATGATTCTATTCGAGTCCATTCGATAATTCCATTCGATTCCATTCGATGTTGACTCCATTCCATTCCATTCATTGGTGATTCCATTCAATTCCATTCATTGATTCCATTACATTCCTTTCGGATTCCATTCG

MEQVEILRKFIQRVQAMKSPDHNGEDNFARDFM|miphdcsrr*

LH00995:48:23YTGFLT4:5:1393:8006:13443,LH00995:48:23YTGFLT4:5:1393:8022:13443,LH00995:48:23YTGFLT4:6:2468:28360:8034,LH00995:48:23YTGFLT4:4:2413:1760:3606

GTPBP1

SUN2

+/+

-/-

chr22:38726440

chr22:38742555

CDS/splice-site

inversion

1632

2076

medium

in-frame

Elongation_factor_Tu_GTP_binding_domain(100%)|SUN2_helix-turn-helix_domain(100%),Sad1_/_UNC-like_C-terminal_(100%)

ENSG00000100226.16

ENSG00000100242.15

ENST00000216044.10

ENST00000406622.5

downstream

CTGTCAAATCCATCCATCGCAAGCGCATGCCTGTCAAGGAGGTGCGGGGTGGCCAGACAGCATCCTTTGCGCTGAAGAAG|GCTGAGCAGCGTGTTATGTCCCGGGTACACTCTCTGGAGCGGCGTCTGGAAGCTCTTGCTGCTGAATTTTCCTCCAACTGGCAGAAGGAGGCCATGCGGC

VKSIHRKRMPVKEVRGGQTASFALKK|AEQRVMSRVHSLERRLEALAAEFSSNWQKEAMR

LH00995:48:23YTGFLT4:1:1439:26427:9309,LH00995:48:23YTGFLT4:5:1135:17940:25942,LH00995:48:23YTGFLT4:8:1148:20165:7740

PAPSS2

ATAD1

+/+

-/-

chr10:87660008

chr10:87814612

CDS/splice-site

5'UTR/splice-site

inversion

907

508

medium

out-of-frame

|AAA+_lid_domain(100%),ATPase_family_associated_with_various_cellular_activities_(AAA)(100%)

ENSG00000198682.13

ENSG00000138138.14

ENST00000361175.8

ENST00000681602.1

downstream

CTGCGTCCTTCGGTCTCTGCTCCCGGGACCCGGGCTCCGCCGCAGCCAGCCAGCATGTCGGGGATCAAGAAGCAAAAGACG|GTTAACATTCAAGATGGTACATGCTGAAGCCTTTTCTCGTCCTTTGAGTCGGAATGAAGTTGTTGGTTTAATTTTCCGTTTGACAATATTTGGTGCAGTGACATACTTTACTATCAAATGGATGGTAGATGCAATTGATCCAACCAGAAAGCAAAAAGTAGAAGCTCAGAAACAG___GCAGAAAAACTAATGAAGC

MSGIKKQKT|vniqdgtc*

LH00995:48:23YTGFLT4:5:2140:38659:12028,LH00995:48:23YTGFLT4:1:1265:42850:1743,LH00995:48:23YTGFLT4:4:2457:25780:27301

STX1A

-/-

chr7:73708589

chr7:73710084

CDS/splice-site

intron

duplication

915

medium

out-of-frame

Syntaxin(20%)|SNARE_domain(100%),Syntaxin(100%)

ENSG00000106089.12

ENST00000222812.8

upstream

downstream

duplicates(1)

CGCAGAGAACGTGGAGGAGGTGAAGCGGAAGCACAGTGCCATCCTGGCATCCCCCAACCCCGATGAGA|GTCTGGGGACTGGAAGGAGGCAGACCGAGGTCCAATGG?AAGACCGACAGGGAGGCCAAGTGCAGTGGCTCACACCTACAATCCCAGTGCTTTGGAAGGCTGAGGCAGGAGGATCGCTTGAG

AENVEEVKRKHSAILASPNPDE|slgtgrrqtevqw?drqggqvqwltptipvlwkaeaggsl

LH00995:48:23YTGFLT4:1:1404:7197:21822,LH00995:48:23YTGFLT4:2:1346:2667:26923,LH00995:48:23YTGFLT4:6:1341:21969:9856,LH00995:48:23YTGFLT4:8:2114:38028:1715

ZNF630

SSX6P(168),SPACA5B(10279)

-/-

./-

chrX:48060450

chrX:48120378

CDS/splice-site

intergenic

duplication

417

medium

out-of-frame

KRAB_box(100%)|

ENSG00000221994.12

ENST00000428463.5

upstream

downstream

duplicates(2)

GTTGAATCCTGCTCAGAAGACCCTGCATAGGGATGTGATGCTGGAGACCTATAATCACCTGGTCTCCGTGG___...CAGGGTGTTCAGGTATAAAACCAGATGTAATCTTTAAGTTGGAACATGGAAAGGACCCATGGATCATAGAGAGTGAGTTGTCAAGGTGGATCTACCCAG|GTGCATGGATACACAAGCCGAAATATGCATTAAGCATGTCTTGCTCATCAACGAAAATGCTAATGTCTAACAGAATGGCACACTGCAAGAAAATACAACGGAAACG

GCSGIKPDVIFKLEHGKDPWIIESELSRWIYP|gawihkpkyalsmscsstkmlmsnrmahckkiqrk

LH00995:48:23YTGFLT4:2:2176:22139:21276,LH00995:48:23YTGFLT4:3:1393:50915:23223,LH00995:48:23YTGFLT4:4:1315:6647:1364,LH00995:48:23YTGFLT4:4:2315:10805:2709,LH00995:48:23YTGFLT4:2:1492:41151:15166

NIP7P1(8711),XRCC6P1(90763)

FRMPD3

./+

+/+

chr10:93116094

chrX:107530407

intergenic

intron

translocation

medium

|FERM_central_domain(100%),PDZ_domain(69%)

ENSG00000147234.10

ENST00000276185.8

downstream

upstream

duplicates(1)

GGGGGAGGAAGAGGAGGGGGAGGA|AGGAGGCCCCTCTGAGAACAAGCTCCTGGCTGGTGACCAGATTGTGGCTATTAATGAGGAAGACGTGAGTGAAGCCCCG

LH00995:48:23YTGFLT4:2:1374:2618:29361,LH00995:48:23YTGFLT4:3:2114:21063:23420,LH00995:48:23YTGFLT4:5:2111:14446:11761

ZRSR2

+/+

chrX:15823136

chrX:15823125

CDS

duplication/ITD

4331

4787

low

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)|

ENSG00000169249.13

ENST00000307771.8

downstream

upstream

duplicates(373),mismappers(130)

AGGCACAATTCACGAAGCAGAGGAAGAAATAGGGACCGCAGCAGGGACCGCAGCCGGGGCCGGGGCAGCCGGAGCCGGAGCCGGAGCCGGAGCCG|GAGCCGGAGCCGCAGGAGCCGCCGCAGCCGGAGCCAAAGTTCCTCTAGGTCCCGAAGTCGTGGCAGGAGGAGGTCGGGTAATAGAGACAGAACTGTTCAG

RHNSRSRGRNRDRSRDRSRGRGSRSRSRSRSr|SRSRRSRRSRSQSSSRSRSRGRRRSGNRDRTV

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2:2209:13434:14970,LH00995:48:23YTGFLT4:2:2220:8241:24723,LH00995:48:23YTGFLT4:2:2226:38376:9099,LH00995:48:23YTGFLT4:2:2226:38376:9099,LH00995:48:23YTGFLT4:2:2243:39913:10108,LH00995:48:23YTGFLT4:2:2243:39913:10108,LH00995:48:23YTGFLT4:2:2251:42647:11677,LH00995:48:23YTGFLT4:2:2251:42647:11677,LH00995:48:23YTGFLT4:2:2256:1267:1743,LH00995:48:23YTGFLT4:2:2270:26119:25087,LH00995:48:23YTGFLT4:2:2270:26119:25087,LH00995:48:23YTGFLT4:2:2273:30545:13751,LH00995:48:23YTGFLT4:2:2273:30545:13751,LH00995:48:23YTGFLT4:2:2304:45309:13485,LH00995:48:23YTGFLT4:2:2304:45309:13485,LH00995:48:23YTGFLT4:2:2349:31896:8384,LH00995:48:23YTGFLT4:2:2350:13612:25031,LH00995:48:23YTGFLT4:2:2350:13612:25031,LH00995:48:23YTGFLT4:2:2383:26702:2135,LH00995:48:23YTGFLT4:2:2383:26702:2135,LH00995:48:23YTGFLT4:2:2395:2497:16652,LH00995:48:23YTGFLT4:2:2395:2497:16652,LH00995:48:23YTGFLT4:2:2410:37154:29431,LH00995:48:23YTGFLT4:2:2410:37154:29431,LH00995:48:23YTGFLT4:2:2414:39080:6423,LH00995:48:23YTGFLT4:2:2414:39080:6423,LH00995:48:23YTGFLT4:2:2423:25424:22733,LH00995:48:23YTGFLT4:2:2423:25424:22733,LH00995:48:23YTGFLT4:2:2428:25990:21528,LH00995:48:23YTGFLT4:2:2428:25990:21528,LH00995:48:23YTGFLT4:2:2438:38165:19216,LH00995:48:23YTGFLT4:2:2438:38165:19216,LH00995:48:23YTGFLT4:2:2457:30448:25634,LH00995:48:23YTGFLT4:2:2457:30448:25634,LH00995:48:23YTGFLT4:2:2467:27123:13485,LH00995:48:23YTGFLT4:2:2467:27123:13485,LH00995:48:23YTGFLT4:2:2490:46166:8833,LH00995:48:23YTGFLT4:2:2490:46166:8833,LH00995:48:23YTGFLT4:2:2492:23951:7852,LH00995:48:23YTGFLT4:2:2498:1518:24485,LH00995:48:23YTGFLT4:2:2498:1518:24485,LH00995:48:23YTGFLT4:3:1118:4406:2443,LH00995:48:23YTGFLT4:3:1118:4406:2443,LH00995:48:23YTGFLT4:3:1140:1971:6857,LH00995:48:23YTGFLT4:3:1140:1971:6857,LH00995:48:23YTGFLT4:3:1140:25100:7376,LH00995:48:23YTGFLT4:3:1140:25100:7376,LH00995:48:23YTGFLT4:3:1143:51732:5106,LH00995:48:23YTGFLT4:3:1143:51732:5106,LH00995:48:23YTGFLT4:3:1163:19971:13401,LH00995:48:23YTGFLT4:3:1163:19971:13401,LH00995:48:23YTGFLT4:3:1168:41725:22747,LH00995:48:23YTGFLT4:3:1173:4608:21850,LH00995:48:23YTGFLT4:3:1173:4608:21850,LH00995:48:23YTGFLT4:3:1191:39371:23406,LH00995:48:23YTGFLT4:3:1191:39371:23406,LH00995:48:23YTGFLT4:3:1203:38182:7670,LH00995:48:23YTGFLT4:3:1203:38182:7670,LH00995:48:23YTGFLT4:3:1204:46878:1687,LH00995:48:23YTGFLT4:3:1204:46878:1687,LH00995:48:23YTGFLT4:3:1211:43319:22621,LH00995:48:23YTGFLT4:3:1211:43319:22621,LH00995:48:23YTGFLT4:3:1228:33028:11327,LH00995:48:23YTGFLT4:3:1228:33028:11327,LH00995:48:23YTGFLT4:3:1247:4082:29039,LH00995:48:23YTGFLT4:3:1247:4082:29039,LH00995:48:23YTGFLT4:3:1256:9357:2667,LH00995:48:23YTGFLT4:3:1256:9357:2667,LH00995:48:23YTGFLT4:3:1286:32786:19931,LH00995:48:23YTGFLT4:3:1294:6865:17044,LH00995:48:23YTGFLT4:3:1294:6865:17044,LH00995:48:23YTGFLT4:3:1306:45503:19118,LH00995:48:23YTGFLT4:3:1306:45503:19118,LH00995:48:23YTGFLT4:3:1327:16064:21654,LH00995:48:23YTGFLT4:3:1327:16064:21654,LH00995:48:23YTGFLT4:3:1337:7537:18571,LH00995:48:23YTGFLT4:3:1337:7537:18571,LH00995:48:23YTGFLT4:3:1361:51352:13387,LH00995:48:23YTGFLT4:3:1361:51352:13387,LH00995:48:23YTGFLT4:3:1378:23587:18375,LH00995:48:23YTGFLT4:3:1378:23587:18375,LH00995:48:23YTGFLT4:3:1398:11096:26839,LH00995:48:23YTGFLT4:3:1402:46830:18137,LH00995:48:23YTGFLT4:3:1402:46830:18137,LH00995:48:23YTGFLT4:3:1412:17560:12896,LH00995:48:23YTGFLT4:3:1412:17560:12896,LH00995:48:23YTGFLT4:3:1412:48828:8034,LH00995:48:23YTGFLT4:3:1412:48828:8034,LH00995:48:23YTGFLT4:3:1430:27632:2625,LH00995:48:23YTGFLT4:3:1430:27632:2625,LH00995:48:23YTGFLT4:3:1463:51376:14073,LH00995:48:23YTGFLT4:3:1463:51376:14073,LH00995:48:23YTGFLT4:3:1471:44217:13639,LH00995:48:23YTGFLT4:3:1471:44217:13639,LH00995:48:23YTGFLT4:3:2108:46482:20477,LH00995:48:23YTGFLT4:3:2108:46482:20477,LH00995:48:23YTGFLT4:3:2110:6283:16960,LH00995:48:23YTGFLT4:3:2110:6283:16960,LH00995:48:23YTGFLT4:5:1216:51894:9337,LH00995:48:23YTGFLT4:7:1304:35140:12686,LH00995:48:23YTGFLT4:1:2389:17787:14382,LH00995:48:23YTGFLT4:1:2389:17787:14382

WDFY3

-/-

chr4:84721464

chr4:84721520

CDS

duplication/ITD

816

low

in-frame

|Beige/BEACH_domain(100%),FYVE_zinc_finger(100%),PH_domain_associated_with_Beige/BEACH(100%)

ENSG00000163625.16

ENST00000295888.9

upstream

downstream

duplicates(27)

AG___GTTTGGTCAAGCCTCCTCTAAAACGCTCCCGATCTGCACCTGATGGAGGAGATGAGGAGAACCAGGAGCAGCTACAAGACCAGATTGCTGAGGGCAGCTCCATAGAAGA|TGAGGAGAACCAGGAGCAGCTACAAGACCAGATTGCTGAGGGCAGCTCCATAGAAGAG

GLVKPPLKRSRSAPDGGDEENQEQLQDQIAEGSSIEd|EENQEQLQDQIAEGSSIE

LH00995:48:23YTGFLT4:1:2342:2586:26446,LH00995:48:23YTGFLT4:2:1219:47170:19987,LH00995:48:23YTGFLT4:2:1219:47170:19987,LH00995:48:23YTGFLT4:2:2329:48893:26530,LH00995:48:23YTGFLT4:3:1396:11161:19020,LH00995:48:23YTGFLT4:3:1490:5992:13009,LH00995:48:23YTGFLT4:3:2485:50842:19118,LH00995:48:23YTGFLT4:4:2496:49079:23266,LH00995:48:23YTGFLT4:5:1279:44112:20715,LH00995:48:23YTGFLT4:5:2282:2464:20996,LH00995:48:23YTGFLT4:6:1176:38101:1532,LH00995:48:23YTGFLT4:6:1176:38101:1532,LH00995:48:23YTGFLT4:6:1217:5660:2597,LH00995:48:23YTGFLT4:6:1492:15449:16974,LH00995:48:23YTGFLT4:6:1492:15465:16974,LH00995:48:23YTGFLT4:6:2316:46336:25185,LH00995:48:23YTGFLT4:6:2316:46336:25185,LH00995:48:23YTGFLT4:7:2333:47493:23630,LH00995:48:23YTGFLT4:7:2491:46199:10767,LH00995:48:23YTGFLT4:8:1196:35091:7726,LH00995:48:23YTGFLT4:8:1322:41968:10220,LH00995:48:23YTGFLT4:2:1380:8257:12364,LH00995:48:23YTGFLT4:5:2227:19842:4909,LH00995:48:23YTGFLT4:6:2364:15238:18067,LH00995:48:23YTGFLT4:4:1488:20367:6829,LH00995:48:23YTGFLT4:3:2183:24777:14746,LH00995:48:23YTGFLT4:4:1169:4689:13415,LH00995:48:23YTGFLT4:4:2430:27179:21878,LH00995:48:23YTGFLT4:6:1370:24145:8469,LH00995:48:23YTGFLT4:8:1277:44589:10276,LH00995:48:23YTGFLT4:8:1351:46684:13149,LH00995:48:23YTGFLT4:4:2181:1712:10080,LH00995:48:23YTGFLT4:5:2281:21646:5764,LH00995:48:23YTGFLT4:2:2106:47801:5106,LH00995:48:23YTGFLT4:4:1270:21629:25690,LH00995:48:23YTGFLT4:4:2150:47388:29361,LH00995:48:23YTGFLT4:6:2151:27924:2317,LH00995:48:23YTGFLT4:8:2125:29533:6843,LH00995:48:23YTGFLT4:1:2342:2586:26446,LH00995:48:23YTGFLT4:2:2329:48893:26530,LH00995:48:23YTGFLT4:3:1396:11161:19020,LH00995:48:23YTGFLT4:3:1490:5992:13009,LH00995:48:23YTGFLT4:3:2485:50842:19118,LH00995:48:23YTGFLT4:4:2496:49079:23266,LH00995:48:23YTGFLT4:5:1279:44112:20715,LH00995:48:23YTGFLT4:5:2282:2464:20996,LH00995:48:23YTGFLT4:6:1217:5660:2597,LH00995:48:23YTGFLT4:6:1492:15449:16974,LH00995:48:23YTGFLT4:6:1492:15465:16974,LH00995:48:23YTGFLT4:7:2333:47493:23630,LH00995:48:23YTGFLT4:7:2491:46199:10767,LH00995:48:23YTGFLT4:8:1196:35091:7726,LH00995:48:23YTGFLT4:8:1322:41968:10220,LH00995:48:23YTGFLT4:2:1380:8257:12364,LH00995:48:23YTGFLT4:5:2227:19842:4909,LH00995:48:23YTGFLT4:6:2364:15238:18067,LH00995:48:23YTGFLT4:4:1488:20367:6829,LH00995:48:23YTGFLT4:3:2183:24777:14746,LH00995:48:23YTGFLT4:4:1169:4689:13415,LH00995:48:23YTGFLT4:4:2430:27179:21878,LH00995:48:23YTGFLT4:6:1370:24145:8469,LH00995:48:23YTGFLT4:8:1277:44589:10276,LH00995:48:23YTGFLT4:8:1351:46684:13149,LH00995:48:23YTGFLT4:4:2181:1712:10080,LH00995:48:23YTGFLT4:5:2281:21646:5764,LH00995:48:23YTGFLT4:2:2106:47801:5106,LH00995:48:23YTGFLT4:4:1270:21629:25690,LH00995:48:23YTGFLT4:4:2150:47388:29361,LH00995:48:23YTGFLT4:6:2151:27924:2317,LH00995:48:23YTGFLT4:8:2125:29533:6843

CRTC2

FP236383.3

-/-

+/+

chr1:153951483

chr21:8399953

CDS

intron

translocation

9704

12872

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(53),mismatches(3)

CCCTGCAGTCCTCCCTAAGCAATCCCAACCTCCAGGCTTCCCTGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LQSSLSNPNLQASLSSPQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSa|prplslslp

LH00995:48:23YTGFLT4:1:1181:22536:24092,LH00995:48:23YTGFLT4:1:1249:20189:27315,LH00995:48:23YTGFLT4:1:1255:4867:2597,LH00995:48:23YTGFLT4:1:1379:24154:25802,LH00995:48:23YTGFLT4:1:1379:24162:25816,LH00995:48:23YTGFLT4:1:1409:2302:15222,LH00995:48:23YTGFLT4:1:2110:30642:29361,LH00995:48:23YTGFLT4:1:2115:33498:6395,LH00995:48:23YTGFLT4:1:2289:42032:26474,LH00995:48:23YTGFLT4:1:2307:36774:28969,LH00995:48:23YTGFLT4:1:2365:33498:19622,LH00995:48:23YTGFLT4:2:1412:27462:12224,LH00995:48:23YTGFLT4:2:1412:29703:14144,LH00995:48:23YTGFLT4:2:2206:3111:19454,LH00995:48:23YTGFLT4:2:2317:32106:6759,LH00995:48:23YTGFLT4:2:2352:50527:3522,LH00995:48:23YTGFLT4:2:2478:7043:1939,LH00995:48:23YTGFLT4:3:1138:41272:15293,LH00995:48:23YTGFLT4:3:1197:43367:1210,LH00995:48:23YTGFLT4:3:1223:44637:6353,LH00995:48:23YTGFLT4:3:1354:28110:15615,LH00995:48:23YTGFLT4:3:1429:33797:20617,LH00995:48:23YTGFLT4:3:1455:21112:23756,LH00995:48:23YTGFLT4:3:1470:15004:24695,LH00995:48:23YTGFLT4:3:2146:11857:21542,LH00995:48:23YTGFLT4:3:2395:19979:6493,LH00995:48:23YTGFLT4:4:1185:42259:24092,LH00995:48:23YTGFLT4:4:1185:42275:24092,LH00995:48:23YTGFLT4:4:1187:7569:26727,LH00995:48:23YTGFLT4:4:1187:7577:26713,LH00995:48:23YTGFLT4:4:1266:48731:4195,LH00995:48:23YTGFLT4:4:1317:16015:27231,LH00995:48:23YTGFLT4:4:1361:7472:1532,LH00995:48:23YTGFLT4:4:1407:31305:12658,LH00995:48:23YTGFLT4:4:1418:9219:5680,LH00995:48:23YTGFLT4:4:1433:3362:21514,LH00995:48:23YTGFLT4:4:1447:43489:7390,LH00995:48:23YTGFLT4:4:2113:7844:29641,LH00995:48:23YTGFLT4:4:2143:51360:14690,LH00995:48:23YTGFLT4:4:2201:36483:28072,LH00995:48:23YTGFLT4:4:2282:31216:1518,LH00995:48:23YTGFLT4:4:2336:26572:15979,LH00995:48:23YTGFLT4:4:2410:42065:13779,LH00995:48:23YTGFLT4:4:2450:8661:14354,LH00995:48:23YTGFLT4:4:2468:38473:14788,LH00995:48:23YTGFLT4:5:1233:26338:24541,LH00995:48:23YTGFLT4:5:1276:48998:2163,LH00995:48:23YTGFLT4:5:1356:16306:16498,LH00995:48:23YTGFLT4:5:1470:17196:18712,LH00995:48:23YTGFLT4:5:1494:20602:4573,LH00995:48:23YTGFLT4:5:2164:18830:14312,LH00995:48:23YTGFLT4:5:2182:31313:14438,LH00995:48:23YTGFLT4:5:2319:35755:11874,LH00995:48:23YTGFLT4:5:2410:35245:15026,LH00995:48:23YTGFLT4:5:2487:23175:18417,LH00995:48:23YTGFLT4:6:1243:50689:6997,LH00995:48:23YTGFLT4:6:1249:29355:18838,LH00995:48:23YTGFLT4:6:1313:42041:8525,LH00995:48:23YTGFLT4:6:1338:31540:4013,LH00995:48:23YTGFLT4:6:1360:51910:15923,LH00995:48:23YTGFLT4:6:1459:1793:8146,LH00995:48:23YTGFLT4:6:2308:48642:6171,LH00995:48:23YTGFLT4:6:2308:48650:6157,LH00995:48:23YTGFLT4:7:1187:18102:16273,LH00995:48:23YTGFLT4:7:1254:45770:15461,LH00995:48:23YTGFLT4:7:1255:21031:12798,LH00995:48:23YTGFLT4:7:1332:37445:17913,LH00995:48:23YTGFLT4:7:1340:16153:9337,LH00995:48:23YTGFLT4:7:1416:13054:3466,LH00995:48:23YTGFLT4:7:1443:24493:20982,LH00995:48:23YTGFLT4:7:2205:9794:5246,LH00995:48:23YTGFLT4:7:2273:30318:23392,LH00995:48:23YTGFLT4:7:2363:3144:13233,LH00995:48:23YTGFLT4:7:2385:30593:29025,LH00995:48:23YTGFLT4:7:2386:3864:11958,LH00995:48:23YTGFLT4:7:2403:18321:3985,LH00995:48:23YTGFLT4:7:2410:7715:8342,LH00995:48:23YTGFLT4:7:2426:47518:26671,LH00995:48:23YTGFLT4:7:2432:31791:9379,LH00995:48:23YTGFLT4:7:2451:37526:24807,LH00995:48:23YTGFLT4:7:2476:39816:3718,LH00995:48:23YTGFLT4:8:1121:45066:25255,LH00995:48:23YTGFLT4:8:1126:35213:18333,LH00995:48:23YTGFLT4:8:1135:30893:14326,LH00995:48:23YTGFLT4:8:1135:30909:14326,LH00995:48:23YTGFLT4:8:1150:37664:9604,LH00995:48:23YTGFLT4:8:1161:3920:14550,LH00995:48:23YTGFLT4:8:1221:3346:28800,LH00995:48:23YTGFLT4:8:1274:20893:28282,LH00995:48:23YTGFLT4:8:1292:37882:8609,LH00995:48:23YTGFLT4:8:1376:45123:10668,LH00995:48:23YTGFLT4:8:2114:8184:9015

IGH@-ext

FP236383.3

-/-

+/+

chr14:105707156

chr21:8399952

exon

intron

translocation

41876

12872

low

IGH.g@-ext

ENSG00000280441.3

IGH.t@-ext

upstream

duplicates(21),mismappers(13),mismatches(1)

GCCGAGGACTGGAAGAAGGGGGACACCTTCTCCTGCATGGTGGGCCACGAGGCCCTGCCGCTGGCCTTCACACAGAAGACCATCGACCGCTTGGCGGGTAAACCCACCCATGTCAATGTGTCTGTTGTCATGGCGGAGGTGGACGGCACCTGCTACTGAGCCGCCCGCCTG|CCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1126:36208:1785,LH00995:48:23YTGFLT4:1:1222:17730:20645,LH00995:48:23YTGFLT4:1:1360:36321:24429,LH00995:48:23YTGFLT4:1:1447:39144:27693,LH00995:48:23YTGFLT4:1:1464:43578:18333,LH00995:48:23YTGFLT4:1:2151:11234:5890,LH00995:48:23YTGFLT4:1:2220:11153:15194,LH00995:48:23YTGFLT4:1:2222:27430:22173,LH00995:48:23YTGFLT4:1:2264:31386:4699,LH00995:48:23YTGFLT4:1:2337:46353:19833,LH00995:48:23YTGFLT4:1:2343:18563:20267,LH00995:48:23YTGFLT4:1:2454:19227:22705,LH00995:48:23YTGFLT4:1:2458:23895:12266,LH00995:48:23YTGFLT4:2:1176:2084:8258,LH00995:48:23YTGFLT4:2:2191:47501:25269,LH00995:48:23YTGFLT4:2:2318:47857:26867,LH00995:48:23YTGFLT4:2:2336:2650:21430,LH00995:48:23YTGFLT4:2:2430:46935:19272,LH00995:48:23YTGFLT4:2:2485:51967:20617,LH00995:48:23YTGFLT4:3:1129:45123:22551,LH00995:48:23YTGFLT4:3:1268:9179:18053,LH00995:48:23YTGFLT4:3:1390:22220:28058,LH00995:48:23YTGFLT4:3:2237:31888:3774,LH00995:48:23YTGFLT4:3:2237:31896:3788,LH00995:48:23YTGFLT4:3:2237:31904:3774,LH00995:48:23YTGFLT4:3:2245:36321:9267,LH00995:48:23YTGFLT4:4:1184:2157:19090,LH00995:48:23YTGFLT4:4:1218:1316:11327,LH00995:48:23YTGFLT4:4:1254:34169:10444,LH00995:48:23YTGFLT4:4:1304:24057:22495,LH00995:48:23YTGFLT4:4:1340:35463:5568,LH00995:48:23YTGFLT4:4:1340:35471:5582,LH00995:48:23YTGFLT4:4:1372:43019:14592,LH00995:48:23YTGFLT4:4:2192:23935:9533,LH00995:48:23YTGFLT4:4:2262:12358:26867,LH00995:48:23YTGFLT4:5:1391:38837:18473,LH00995:48:23YTGFLT4:5:1458:18143:19762,LH00995:48:23YTGFLT4:5:2146:17471:19048,LH00995:48:23YTGFLT4:5:2182:14365:3074,LH00995:48:23YTGFLT4:5:2390:21031:3074,LH00995:48:23YTGFLT4:6:1259:42170:24162,LH00995:48:23YTGFLT4:6:1271:7116:25409,LH00995:48:23YTGFLT4:6:1271:7124:25395,LH00995:48:23YTGFLT4:6:1285:12261:13359,LH00995:48:23YTGFLT4:6:1346:24825:23406,LH00995:48:23YTGFLT4:6:1351:42874:29333,LH00995:48:23YTGFLT4:6:1412:48407:6521,LH00995:48:23YTGFLT4:6:1452:4810:13513,LH00995:48:23YTGFLT4:6:2202:16703:2527,LH00995:48:23YTGFLT4:6:2228:11776:11621,LH00995:48:23YTGFLT4:6:2281:25359:18866,LH00995:48:23YTGFLT4:6:2380:9050:15251,LH00995:48:23YTGFLT4:6:2463:23142:20855,LH00995:48:23YTGFLT4:6:2477:25011:5064,LH00995:48:23YTGFLT4:7:1230:24704:25157,LH00995:48:23YTGFLT4:7:1322:37154:15587,LH00995:48:23YTGFLT4:7:1341:13240:15447,LH00995:48:23YTGFLT4:7:1356:3176:21864,LH00995:48:23YTGFLT4:7:1390:42186:14914,LH00995:48:23YTGFLT4:7:2164:24574:27595,LH00995:48:23YTGFLT4:7:2173:45673:11313,LH00995:48:23YTGFLT4:7:2341:36814:10290,LH00995:48:23YTGFLT4:7:2435:17876:2065,LH00995:48:23YTGFLT4:8:1137:52024:25031,LH00995:48:23YTGFLT4:8:1451:46037:17212,LH00995:48:23YTGFLT4:8:2136:18952:29123

KIF26B

+/+

chr1:245419745

chr1:245366834

CDS/splice-site

duplication/non-canonical_splicing

3176

5250

low

out-of-frame

|Kinesin_motor_domain(100%)

ENSG00000162849.16

ENST00000407071.7

downstream

upstream

duplicates(14)

ATCTCCCAGCTGATGACAGAGAGTAGCCGGGAGGGACTAACAGAAGCAGTGCTGAACCGCTACAATGCAGACAAGCCTTCCGCCTGCAGTGTCCCAGCCTCGCAGGGCTCCTGCGTGGCCAGCGAGACTTCCACAGGCACATCGGTGGCCGCCTCCTTCTTTGCACG|GACCCTGCTTTCTCGGCTGTGATTCACGACAAACTCCAGGTCCCCAACACCATCCGGAAGGCATGGAACGACCGGGACAACCGCTGTGACATTTGCGCCACTCACCTGAAC

ISQLMTESSREGLTEAVLNRYNADKPSACSVPASQGSCVASETSTGTSVAASFFAr|tllsrl*

LH00995:48:23YTGFLT4:1:1323:16331:17100,LH00995:48:23YTGFLT4:1:2411:16144:14144,LH00995:48:23YTGFLT4:2:1208:30820:18992,LH00995:48:23YTGFLT4:2:2270:49500:13177,LH00995:48:23YTGFLT4:2:2305:7108:12084,LH00995:48:23YTGFLT4:3:1406:42421:8370,LH00995:48:23YTGFLT4:5:1385:38352:7628,LH00995:48:23YTGFLT4:6:1237:20238:27876,LH00995:48:23YTGFLT4:6:1333:15570:16540,LH00995:48:23YTGFLT4:7:1409:7885:1126,LH00995:48:23YTGFLT4:7:1421:28927:19328,LH00995:48:23YTGFLT4:7:2242:20270:23280,LH00995:48:23YTGFLT4:7:2453:32616:25297,LH00995:48:23YTGFLT4:8:1138:23692:22845,LH00995:48:23YTGFLT4:8:1243:36386:28632,LH00995:48:23YTGFLT4:1:1439:39436:25311,LH00995:48:23YTGFLT4:1:2388:35439:21080,LH00995:48:23YTGFLT4:2:1145:5773:25465,LH00995:48:23YTGFLT4:2:2108:9948:8623,LH00995:48:23YTGFLT4:2:2284:2262:24737,LH00995:48:23YTGFLT4:2:2384:10028:13107,LH00995:48:23YTGFLT4:2:2498:33222:17240,LH00995:48:23YTGFLT4:3:1255:12536:21066,LH00995:48:23YTGFLT4:3:1335:30706:1785,LH00995:48:23YTGFLT4:3:2151:21864:16428,LH00995:48:23YTGFLT4:4:2121:13337:13877,LH00995:48:23YTGFLT4:4:2213:15441:10150,LH00995:48:23YTGFLT4:4:2213:15449:10164,LH00995:48:23YTGFLT4:4:2327:33433:11523,LH00995:48:23YTGFLT4:5:1133:10619:29543,LH00995:48:23YTGFLT4:5:1354:13790:7207,LH00995:48:23YTGFLT4:6:1322:6202:16231,LH00995:48:23YTGFLT4:6:2145:10554:29515,LH00995:48:23YTGFLT4:6:2383:19397:15853,LH00995:48:23YTGFLT4:6:2481:29550:6731,LH00995:48:23YTGFLT4:7:1118:38408:20561,LH00995:48:23YTGFLT4:7:1256:32567:8034,LH00995:48:23YTGFLT4:7:1256:32575:8020,LH00995:48:23YTGFLT4:7:2112:18296:1981,LH00995:48:23YTGFLT4:7:2132:2853:27357,LH00995:48:23YTGFLT4:7:2150:15344:5078,LH00995:48:23YTGFLT4:7:2160:37276:8763,LH00995:48:23YTGFLT4:8:1328:37737:26376,LH00995:48:23YTGFLT4:8:2126:48238:14382,LH00995:48:23YTGFLT4:8:2148:7237:16624

DIAPH1

FP671120.4

-/-

+/+

chr5:141574025

chr21:8214653

CDS

intron

translocation

3039

8570

low

out-of-frame

Diaphanous_FH3_Domain(100%),Diaphanous_GTPase-binding_Domain(100%)|

ENSG00000131504.17

ENSG00000278996.1

ENST00000647433.1

upstream

duplicates(10),mismatches(7)

TGCGGCAGCTATTACTGTACCTCCTTCTGTTCCTAGTCGTGCTCCTGTTCCCCCTGCCCCTCCTTTACCTGGTGACTCTGGCACTATTATTCCACCACCACCTGCTCCTGGGGATAGTACCACTCCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

AAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTP|rpsvrpssss

LH00995:48:23YTGFLT4:1:1146:44387:17240,LH00995:48:23YTGFLT4:1:1146:44403:17240,LH00995:48:23YTGFLT4:1:1442:44419:13009,LH00995:48:23YTGFLT4:1:2347:30545:1308,LH00995:48:23YTGFLT4:2:1163:14761:24443,LH00995:48:23YTGFLT4:2:1290:27681:2681,LH00995:48:23YTGFLT4:2:2329:20853:23532,LH00995:48:23YTGFLT4:2:2377:10595:16610,LH00995:48:23YTGFLT4:3:1246:21621:29263,LH00995:48:23YTGFLT4:3:1249:31338:20561,LH00995:48:23YTGFLT4:3:1259:48844:28408,LH00995:48:23YTGFLT4:3:1277:34193:3985,LH00995:48:23YTGFLT4:3:1328:28781:5148,LH00995:48:23YTGFLT4:3:1437:33926:7446,LH00995:48:23YTGFLT4:3:2370:7917:15166,LH00995:48:23YTGFLT4:4:1241:16864:8553,LH00995:48:23YTGFLT4:4:1295:16824:9688,LH00995:48:23YTGFLT4:4:1324:23555:13639,LH00995:48:23YTGFLT4:4:1334:13596:16147,LH00995:48:23YTGFLT4:4:1339:7804:13093,LH00995:48:23YTGFLT4:4:2242:17520:12910,LH00995:48:23YTGFLT4:5:1304:3362:13975,LH00995:48:23YTGFLT4:5:1351:4382:12406,LH00995:48:23YTGFLT4:5:1408:15546:26082,LH00995:48:23YTGFLT4:5:2113:47024:23125,LH00995:48:23YTGFLT4:5:2128:1445:13261,LH00995:48:23YTGFLT4:5:2210:7262:19524,LH00995:48:23YTGFLT4:5:2257:50244:24218,LH00995:48:23YTGFLT4:6:1114:5595:7025,LH00995:48:23YTGFLT4:6:1135:32033:28688,LH00995:48:23YTGFLT4:6:1353:22827:6577,LH00995:48:23YTGFLT4:6:1482:33093:4881,LH00995:48:23YTGFLT4:6:2380:40131:24639,LH00995:48:23YTGFLT4:7:1148:25359:4013,LH00995:48:23YTGFLT4:7:1291:9486:2275,LH00995:48:23YTGFLT4:7:1404:14227:10879,LH00995:48:23YTGFLT4:7:1404:14235:10865,LH00995:48:23YTGFLT4:7:1412:26395:7320,LH00995:48:23YTGFLT4:7:1435:38513:26180,LH00995:48:23YTGFLT4:7:1477:41709:26362,LH00995:48:23YTGFLT4:7:2127:51126:16694,LH00995:48:23YTGFLT4:8:1340:49532:3536,LH00995:48:23YTGFLT4:8:1459:9486:7852,LH00995:48:23YTGFLT4:8:2122:49864:1224,LH00995:48:23YTGFLT4:8:2137:35827:27105

ZFP36

FP671120.4

+/+

chr19:39408340

chr21:8214652

CDS

intron

translocation

65535

8570

low

out-of-frame

Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)|

ENSG00000128016.7

ENSG00000278996.1

ENST00000594442.2

downstream

upstream

duplicates(15),mismatches(8)

GGCTCTCGCTGCCACTTCATCCACAACCCTAGCGAAGACCTGGCGGCCCCGGGCCACCCTCCTGTGCTTCGCCAGAGCATCAGCTTCTCCGGCCTGCCCTCTGGCCGCCGGACCTCACCACCACCACCAGGCCTGGCCGGCCCTTCCC|CGTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

GSRCHFIHNPSEDLAAPGHPPVLRQSISFSGLPSGRRTSPPPPGLAGPS|psvrpsvlll

LH00995:48:23YTGFLT4:1:1121:27640:12224,LH00995:48:23YTGFLT4:1:1251:35059:11061,LH00995:48:23YTGFLT4:1:1301:24663:1687,LH00995:48:23YTGFLT4:1:1329:51571:24302,LH00995:48:23YTGFLT4:1:1333:43950:22257,LH00995:48:23YTGFLT4:1:1376:2270:9982,LH00995:48:23YTGFLT4:1:1376:2286:9982,LH00995:48:23YTGFLT4:1:2261:39055:6605,LH00995:48:23YTGFLT4:1:2272:38060:8356,LH00995:48:23YTGFLT4:1:2406:45268:5372,LH00995:48:23YTGFLT4:1:2412:5975:29123,LH00995:48:23YTGFLT4:2:1113:13281:29277,LH00995:48:23YTGFLT4:2:1308:35010:16161,LH00995:48:23YTGFLT4:2:2194:5029:14592,LH00995:48:23YTGFLT4:2:2194:5045:14592,LH00995:48:23YTGFLT4:2:2293:8216:4139,LH00995:48:23YTGFLT4:2:2295:33125:9674,LH00995:48:23YTGFLT4:3:1227:1057:2527,LH00995:48:23YTGFLT4:3:1252:4220:4167,LH00995:48:23YTGFLT4:3:1488:16128:16329,LH00995:48:23YTGFLT4:3:2476:24550:7207,LH00995:48:23YTGFLT4:4:1481:31176:8398,LH00995:48:23YTGFLT4:4:2134:8661:3676,LH00995:48:23YTGFLT4:4:2135:42591:19819,LH00995:48:23YTGFLT4:4:2252:23984:10963,LH00995:48:23YTGFLT4:5:1442:10255:9604,LH00995:48:23YTGFLT4:5:2110:35334:22495,LH00995:48:23YTGFLT4:5:2443:23976:26755,LH00995:48:23YTGFLT4:6:1186:17641:24723,LH00995:48:23YTGFLT4:6:1193:31880:28646,LH00995:48:23YTGFLT4:6:1193:46668:17577,LH00995:48:23YTGFLT4:6:1322:8483:28506,LH00995:48:23YTGFLT4:6:1367:46684:8889,LH00995:48:23YTGFLT4:6:2224:16654:25227,LH00995:48:23YTGFLT4:6:2244:2942:14676,LH00995:48:23YTGFLT4:6:2405:48019:16189,LH00995:48:23YTGFLT4:6:2425:42316:26825,LH00995:48:23YTGFLT4:6:2487:12067:15573,LH00995:48:23YTGFLT4:6:2487:12099:15629,LH00995:48:23YTGFLT4:7:1143:34137:27932,LH00995:48:23YTGFLT4:7:1190:34671:18543,LH00995:48:23YTGFLT4:7:1301:14114:2752,LH00995:48:23YTGFLT4:7:1494:15983:27848,LH00995:48:23YTGFLT4:7:2205:44314:5204,LH00995:48:23YTGFLT4:7:2425:17123:22145,LH00995:48:23YTGFLT4:7:2470:29728:17436,LH00995:48:23YTGFLT4:7:2477:26726:5512,LH00995:48:23YTGFLT4:8:1254:46401:27651,LH00995:48:23YTGFLT4:8:1412:29186:18936,LH00995:48:23YTGFLT4:6:2344:33845:12630

SRRM2

FP671120.4

+/+

chr16:2769182

chr21:8214653

CDS

intron

translocation

15241

8570

low

out-of-frame

cwf21_domain(100%)|

ENSG00000167978.17

ENSG00000278996.1

ENST00000301740.13

downstream

upstream

duplicates(52),low_entropy(8),mismatches(26)

ACCCCAGCCCCAAAGGAGGCTGTTCGAGAGGGACGTCCTCCGGAGCCAACCCCAGCCAAACGGAAGAGGCGCTCTAGCAGTTCCAGTTCCAGCTCCTCCTCTTCATCTTCCTCCTCCTCCTCCTCCTCCTCTTCTTCCTCCTCCTCTTCCTCTTCTTCTTCTTCCTCCTCATC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

TPAPKEAVREGRPPEPTPAKRKRRSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSs|svrpsvlll

LH00995:48:23YTGFLT4:1:1109:18313:15236,LH00995:48:23YTGFLT4:1:1151:42267:28898,LH00995:48:23YTGFLT4:1:1227:29533:12308,LH00995:48:23YTGFLT4:1:1401:18094:19959,LH00995:48:23YTGFLT4:1:1449:44314:10024,LH00995:48:23YTGFLT4:1:2175:7747:14788,LH00995:48:23YTGFLT4:1:2183:12892:23504,LH00995:48:23YTGFLT4:1:2191:31321:3634,LH00995:48:23YTGFLT4:1:2303:11962:5190,LH00995:48:23YTGFLT4:1:2359:14543:3718,LH00995:48:23YTGFLT4:1:2379:39767:5876,LH00995:48:23YTGFLT4:1:2442:20837:19160,LH00995:48:23YTGFLT4:1:2463:9648:1210,LH00995:48:23YTGFLT4:2:1120:44330:23504,LH00995:48:23YTGFLT4:2:1131:50543:15825,LH00995:48:23YTGFLT4:2:1170:17131:5428,LH00995:48:23YTGFLT4:2:1197:50923:28114,LH00995:48:23YTGFLT4:2:1226:23442:22159,LH00995:48:23YTGFLT4:2:1263:6323:7614,LH00995:48:23YTGFLT4:2:1464:43497:16287,LH00995:48:23YTGFLT4:2:1471:30407:2976,LH00995:48:23YTGFLT4:2:1473:47040:19678,LH00995:48:23YTGFLT4:2:2162:47987:15909,LH00995:48:23YTGFLT4:2:2178:35205:22046,LH00995:48:23YTGFLT4:2:2184:24477:23644,LH00995:48:23YTGFLT4:2:2196:3354:18109,LH00995:48:23YTGFLT4:2:2202:3095:20547,LH00995:48:23YTGFLT4:2:2345:17439:25101,LH00995:48:23YTGFLT4:2:2379:14680:5918,LH00995:48:23YTGFLT4:2:2391:35722:11173,LH00995:48:23YTGFLT4:2:2414:49516:17100,LH00995:48:23YTGFLT4:2:2416:32187:9562,LH00995:48:23YTGFLT4:2:2474:24469:29347,LH00995:48:23YTGFLT4:3:1130:30229:24975,LH00995:48:23YTGFLT4:3:1185:5312:5330,LH00995:48:23YTGFLT4:3:1215:22722:26516,LH00995:48:23YTGFLT4:3:1215:22738:26516,LH00995:48:23YTGFLT4:3:1264:45050:5778,LH00995:48:23YTGFLT4:3:1264:45050:5806,LH00995:48:23YTGFLT4:3:1264:45058:5792,LH00995:48:23YTGFLT4:3:1313:48747:19917,LH00995:48:23YTGFLT4:3:1429:27026:10374,LH00995:48:23YTGFLT4:3:1464:40010:26362,LH00995:48:23YTGFLT4:3:2129:26014:9547,LH00995:48:23YTGFLT4:3:2144:47882:3480,LH00995:48:23YTGFLT4:3:2192:23733:6381,LH00995:48:23YTGFLT4:3:2262:11784:20743,LH00995:48:23YTGFLT4:3:2270:37842:19328,LH00995:48:23YTGFLT4:3:2288:44783:24457,LH00995:48:23YTGFLT4:3:2329:45778:16736,LH00995:48:23YTGFLT4:3:2375:7084:2485,LH00995:48:23YTGFLT4:4:1234:4163:3592,LH00995:48:23YTGFLT4:4:2101:41183:16119,LH00995:48:23YTGFLT4:4:2152:5352:6437,LH00995:48:23YTGFLT4:4:2193:33166:8819,LH00995:48:23YTGFLT4:4:2308:46935:5708,LH00995:48:23YTGFLT4:4:2381:32017:27007,LH00995:48:23YTGFLT4:4:2420:4875:21892,LH00995:48:23YTGFLT4:5:1105:18571:14984,LH00995:48:23YTGFLT4:5:1191:24712:23910,LH00995:48:23YTGFLT4:5:1192:25537:4097,LH00995:48:23YTGFLT4:5:1235:26419:12742,LH00995:48:23YTGFLT4:5:1335:10530:17675,LH00995:48:23YTGFLT4:5:1413:28223:26572,LH00995:48:23YTGFLT4:5:1422:16331:5610,LH00995:48:23YTGFLT4:5:1457:32972:15769,LH00995:48:23YTGFLT4:5:1467:23231:25578,LH00995:48:23YTGFLT4:5:2444:35366:5596,LH00995:48:23YTGFLT4:5:2457:9317:10164,LH00995:48:23YTGFLT4:6:1134:49427:19524,LH00995:48:23YTGFLT4:6:1134:49443:19524,LH00995:48:23YTGFLT4:6:1148:26160:28016,LH00995:48:23YTGFLT4:6:1214:15554:16568,LH00995:48:23YTGFLT4:6:1214:15570:16568,LH00995:48:23YTGFLT4:6:1270:40503:7179,LH00995:48:23YTGFLT4:6:1311:24566:1406,LH00995:48:23YTGFLT4:6:1358:7367:16820,LH00995:48:23YTGFLT4:6:1420:47040:15839,LH00995:48:23YTGFLT4:6:2141:18094:27441,LH00995:48:23YTGFLT4:6:2192:10126:14900,LH00995:48:23YTGFLT4:6:2215:21063:20729,LH00995:48:23YTGFLT4:6:2304:6930:6647,LH00995:48:23YTGFLT4:6:2346:14963:7978,LH00995:48:23YTGFLT4:6:2442:28967:13121,LH00995:48:23YTGFLT4:7:1153:39185:16077,LH00995:48:23YTGFLT4:7:1193:45891:13065,LH00995:48:23YTGFLT4:7:1282:48424:3662,LH00995:48:23YTGFLT4:7:1309:35196:14326,LH00995:48:23YTGFLT4:7:1349:25594:24260,LH00995:48:23YTGFLT4:7:1379:12019:5288,LH00995:48:23YTGFLT4:7:1428:39419:20855,LH00995:48:23YTGFLT4:7:1428:39428:20841,LH00995:48:23YTGFLT4:7:1434:25642:22747,LH00995:48:23YTGFLT4:7:1434:25658:22747,LH00995:48:23YTGFLT4:7:1466:34905:16007,LH00995:48:23YTGFLT4:7:1471:48699:28941,LH00995:48:23YTGFLT4:7:2255:45980:16806,LH00995:48:23YTGFLT4:7:2255:45988:16820,LH00995:48:23YTGFLT4:7:2401:48221:5386,LH00995:48:23YTGFLT4:7:2470:10312:24387,LH00995:48:23YTGFLT4:7:2492:24267:15545,LH00995:48:23YTGFLT4:8:1101:42696:16946,LH00995:48:23YTGFLT4:8:1128:26742:19524,LH00995:48:23YTGFLT4:8:1131:26856:1785,LH00995:48:23YTGFLT4:8:1159:22333:17549,LH00995:48:23YTGFLT4:8:1166:10376:29655,LH00995:48:23YTGFLT4:8:1201:48731:3214,LH00995:48:23YTGFLT4:8:1201:48739:3200,LH00995:48:23YTGFLT4:8:1222:37809:23812,LH00995:48:23YTGFLT4:8:1285:17415:25676,LH00995:48:23YTGFLT4:8:1330:49783:17282,LH00995:48:23YTGFLT4:8:2112:22738:5106

ATP6V0A4

-/-

chr7:138745123

chr7:138786260

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

363

low

out-of-frame

V-type_ATPase_116kDa_subunit_family__(57%)|V-type_ATPase_116kDa_subunit_family__(100%)

ENSG00000105929.16

ENST00000310018.7

upstream

downstream

duplicates(10)

GGAGACTGTGGTCATGGAACCGTGATGCTCCTGGCTGCACTTTGGATGATTCTGAATGAGAGACGCTTGCTCTCCCAGAAGACAGACAATGAG___ATTTGGAACACCTTCTTCCACGGGCGCTATCTGATCCTACTTATGGGCATCTTCTCCATCTACACGGGTTTGATCTACAATGACTGCTTCTCCAAGTCCTTGAACATCTTTGGCTCTTCTTGGAGTGTCCAACCCATGTTCAGAAACGGCACATGGAA|TCTCATTTCCAGTTCCTCCATGACGTGGCAAGTGAAGACAGGAATGAAAGGAATGTAAAGCAGCTTTTCTCTGAAGAGAAGAAGAGAGAGAGACACAGCCAAG

GDCGHGTVMLLAALWMILNERRLLSQKTDNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNGTWn|lissssmtwqvktgmkgm*

LH00995:48:23YTGFLT4:1:1288:30739:5680,LH00995:48:23YTGFLT4:1:1379:46134:18613,LH00995:48:23YTGFLT4:2:1168:39072:14228,LH00995:48:23YTGFLT4:2:1168:39080:14242,LH00995:48:23YTGFLT4:2:1295:4980:28828,LH00995:48:23YTGFLT4:2:1295:4988:28842,LH00995:48:23YTGFLT4:2:2193:16581:24457,LH00995:48:23YTGFLT4:2:2412:18305:21416,LH00995:48:23YTGFLT4:3:2150:29396:28604,LH00995:48:23YTGFLT4:3:2364:5595:5820,LH00995:48:23YTGFLT4:3:2456:15878:12308,LH00995:48:23YTGFLT4:4:1485:21532:18235,LH00995:48:23YTGFLT4:4:2242:27681:15741,LH00995:48:23YTGFLT4:5:1146:21209:10360,LH00995:48:23YTGFLT4:5:1354:15878:1995,LH00995:48:23YTGFLT4:5:2204:20262:4741,LH00995:48:23YTGFLT4:5:2217:12002:20141,LH00995:48:23YTGFLT4:5:2222:23320:16652,LH00995:48:23YTGFLT4:5:2243:41029:3326,LH00995:48:23YTGFLT4:5:2264:17366:20939,LH00995:48:23YTGFLT4:5:2348:18693:7908,LH00995:48:23YTGFLT4:5:2455:6275:2822,LH00995:48:23YTGFLT4:6:1181:31184:14970,LH00995:48:23YTGFLT4:6:1227:10943:23153,LH00995:48:23YTGFLT4:6:2215:29517:24583,LH00995:48:23YTGFLT4:6:2274:41280:28534,LH00995:48:23YTGFLT4:6:2465:48407:13051,LH00995:48:23YTGFLT4:7:1422:25577:7165,LH00995:48:23YTGFLT4:7:2225:7334:17044,LH00995:48:23YTGFLT4:7:2301:19898:7754,LH00995:48:23YTGFLT4:7:2396:3751:29389,LH00995:48:23YTGFLT4:8:2149:6655:12616,LH00995:48:23YTGFLT4:1:1350:45891:25311,LH00995:48:23YTGFLT4:5:1245:8613:15391

PRRC2C

FP671120.4

+/+

chr1:171557802

chr21:8216919

CDS

intron

translocation

12776

9432

low

out-of-frame

BAT2_N-terminus(100%)|

ENSG00000117523.16

ENSG00000278996.1

ENST00000367742.7

downstream

upstream

duplicates(3),mismatches(1)

GCTCCAACCCCCATCCTTGCCTCAGTTTCAACCCCAGCTTCTGTCACCATTCTTGCCTCAGCCTCAATTCCCATTCTTGCTTCAGCCCTAGCATCAACTTCAGCTCCAACGCCAGCCCCAGCAGCCTCTTCCCCAGCTGCCCCAGTCATCACAGCACCAACTATCCCAGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCC

APTPILASVSTPASVTILASASIPILASALASTSAPTPAPAASSPAAPVITAPTIPa|prplslsl

LH00995:48:23YTGFLT4:1:1337:23474:12630,LH00995:48:23YTGFLT4:1:1395:7286:17296,LH00995:48:23YTGFLT4:1:1494:8969:2191,LH00995:48:23YTGFLT4:1:1495:25043:5848,LH00995:48:23YTGFLT4:1:2471:43982:15923,LH00995:48:23YTGFLT4:2:1114:41523:29151,LH00995:48:23YTGFLT4:2:1205:40487:12112,LH00995:48:23YTGFLT4:2:1261:5579:19608,LH00995:48:23YTGFLT4:2:1291:12836:8272,LH00995:48:23YTGFLT4:2:1471:51417:4699,LH00995:48:23YTGFLT4:2:1480:44597:26713,LH00995:48:23YTGFLT4:2:2246:20715:7151,LH00995:48:23YTGFLT4:3:1421:24048:16904,LH00995:48:23YTGFLT4:3:2266:34088:29557,LH00995:48:23YTGFLT4:4:1142:5328:10991,LH00995:48:23YTGFLT4:4:1312:25909:27413,LH00995:48:23YTGFLT4:4:2144:33263:7558,LH00995:48:23YTGFLT4:4:2348:30035:29375,LH00995:48:23YTGFLT4:5:1425:7610:22481,LH00995:48:23YTGFLT4:6:1455:49241:7292,LH00995:48:23YTGFLT4:6:2319:32737:26825,LH00995:48:23YTGFLT4:7:1232:44023:22887,LH00995:48:23YTGFLT4:7:1430:30674:20561,LH00995:48:23YTGFLT4:7:1439:48205:22285,LH00995:48:23YTGFLT4:7:2137:11169:28002,LH00995:48:23YTGFLT4:7:2195:23838:15307,LH00995:48:23YTGFLT4:8:1429:20634:12504,LH00995:48:23YTGFLT4:8:1462:15886:9435

ATN1

FP671120.4

+/+

chr12:6936427

chr21:8214653

CDS

intron

translocation

11132

8570

low

out-of-frame

Atrophin-1_family(16%)|

ENSG00000111676.15

ENSG00000278996.1

ENST00000356654.8

downstream

upstream

duplicates(19),mismatches(21)

TCTGCCCTCTCCCCACGCCATGGGACAGGGTATGGGTGGACTTCCTCCTGGCCCAGAGAAGGGCCCAACTCTGGCTCCTTCACCCCACTCTCTGCCTCCTGCTTCCTCTTCTGCTCCAGCGCCCCCCATGAGGTTTCCTTATTCATCCTCTAGTAGTAGCTCTGCAGCAGCCTCCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

LPSPHAMGQGMGGLPPGPEKGPTLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASs|svrpsvlll

LH00995:48:23YTGFLT4:1:1116:17593:9618,LH00995:48:23YTGFLT4:1:1132:25610:5428,LH00995:48:23YTGFLT4:1:1171:37292:2962,LH00995:48:23YTGFLT4:1:1248:11509:2864,LH00995:48:23YTGFLT4:1:1414:33214:21598,LH00995:48:23YTGFLT4:1:2271:32502:26306,LH00995:48:23YTGFLT4:1:2345:37955:4279,LH00995:48:23YTGFLT4:2:1109:39161:23882,LH00995:48:23YTGFLT4:2:1204:12455:26222,LH00995:48:23YTGFLT4:2:1360:29186:22187,LH00995:48:23YTGFLT4:2:2344:8265:26755,LH00995:48:23YTGFLT4:2:2379:33999:28870,LH00995:48:23YTGFLT4:2:2448:20384:8735,LH00995:48:23YTGFLT4:3:1327:29978:23924,LH00995:48:23YTGFLT4:3:1470:25626:2401,LH00995:48:23YTGFLT4:3:1487:28975:29697,LH00995:48:23YTGFLT4:3:2148:24841:22060,LH00995:48:23YTGFLT4:3:2410:40843:17436,LH00995:48:23YTGFLT4:3:2420:9098:22593,LH00995:48:23YTGFLT4:3:2453:43084:21402,LH00995:48:23YTGFLT4:3:2456:48310:27567,LH00995:48:23YTGFLT4:4:1191:22803:14522,LH00995:48:23YTGFLT4:4:1258:10854:27511,LH00995:48:23YTGFLT4:4:1259:11404:7446,LH00995:48:23YTGFLT4:4:1292:36386:1392,LH00995:48:23YTGFLT4:4:1314:45657:24709,LH00995:48:23YTGFLT4:4:1448:18903:20827,LH00995:48:23YTGFLT4:4:2132:3645:13737,LH00995:48:23YTGFLT4:4:2198:2586:15405,LH00995:48:23YTGFLT4:4:2314:17140:15166,LH00995:48:23YTGFLT4:4:2445:3265:2037,LH00995:48:23YTGFLT4:5:1178:4641:11229,LH00995:48:23YTGFLT4:5:1475:28805:20071,LH00995:48:23YTGFLT4:5:2110:29121:11817,LH00995:48:23YTGFLT4:5:2124:9624:18543,LH00995:48:23YTGFLT4:5:2135:44112:1462,LH00995:48:23YTGFLT4:5:2196:12900:27021,LH00995:48:23YTGFLT4:5:2229:31928:1883,LH00995:48:23YTGFLT4:5:2326:50551:22313,LH00995:48:23YTGFLT4:6:1102:44532:28983,LH00995:48:23YTGFLT4:6:1201:1849:20463,LH00995:48:23YTGFLT4:6:1413:23377:3242,LH00995:48:23YTGFLT4:6:2113:33959:11201,LH00995:48:23YTGFLT4:6:2163:50406:10626,LH00995:48:23YTGFLT4:6:2376:44824:16371,LH00995:48:23YTGFLT4:6:2419:3014:24555,LH00995:48:23YTGFLT4:6:2440:49014:23378,LH00995:48:23YTGFLT4:6:2478:16711:28240,LH00995:48:23YTGFLT4:7:1122:34120:6072,LH00995:48:23YTGFLT4:7:1243:34201:19664,LH00995:48:23YTGFLT4:7:1351:20230:14494,LH00995:48:23YTGFLT4:7:1430:7739:17492,LH00995:48:23YTGFLT4:7:1471:15028:23476,LH00995:48:23YTGFLT4:7:2262:26362:25844,LH00995:48:23YTGFLT4:7:2335:16589:7404,LH00995:48:23YTGFLT4:7:2419:49750:24821,LH00995:48:23YTGFLT4:7:2434:30262:23686,LH00995:48:23YTGFLT4:8:1121:3241:3620,LH00995:48:23YTGFLT4:8:1121:3257:3620,LH00995:48:23YTGFLT4:8:1290:7391:27763,LH00995:48:23YTGFLT4:8:1371:12876:28492,LH00995:48:23YTGFLT4:8:1421:18717:2261,LH00995:48:23YTGFLT4:8:2130:20424:10458,LH00995:48:23YTGFLT4:8:2132:4600:21248

FOSB

FP236383.3

+/+

chr19:45472978

chr21:8399951

CDS

intron

translocation

65535

12872

low

out-of-frame

bZIP_transcription_factor(100%)|

ENSG00000125740.14

ENSG00000280441.3

ENST00000585836.5

downstream

upstream

duplicates(13)

AGTGAAGTTCAAGTCCTCGGCGACCCCTTCCCCGTTGTTAACCCTTCGTACACTTCTTCGTTTGTCCTCACCTGCCCGGAGGTCTCCGCGTTCGCCGGCGCCCAACGCACCAGCGGCAGTGACCAGCCTTCCGA|GCCCCGCGCCCTCTCTCTCTCTCTCTCCC

SEVQVLGDPFPVVNPSYTSSFVLTCPEVSAFAGAQRTSGSDQPSe|pralslsls

LH00995:48:23YTGFLT4:1:1137:38222:12924,LH00995:48:23YTGFLT4:1:1165:51352:12770,LH00995:48:23YTGFLT4:1:1317:25278:20043,LH00995:48:23YTGFLT4:1:1385:38093:12252,LH00995:48:23YTGFLT4:1:2146:2836:6619,LH00995:48:23YTGFLT4:1:2283:13944:13471,LH00995:48:23YTGFLT4:2:1442:23781:23812,LH00995:48:23YTGFLT4:2:1484:4883:24821,LH00995:48:23YTGFLT4:2:2187:52072:5134,LH00995:48:23YTGFLT4:2:2255:15756:13359,LH00995:48:23YTGFLT4:2:2331:39080:13793,LH00995:48:23YTGFLT4:2:2389:35989:21276,LH00995:48:23YTGFLT4:2:2427:35633:7320,LH00995:48:23YTGFLT4:2:2442:21079:6297,LH00995:48:23YTGFLT4:2:2498:46150:3480,LH00995:48:23YTGFLT4:3:1163:13022:6353,LH00995:48:23YTGFLT4:3:1214:52137:13009,LH00995:48:23YTGFLT4:3:1362:9260:16876,LH00995:48:23YTGFLT4:3:2463:42777:10725,LH00995:48:23YTGFLT4:3:2472:10271:7193,LH00995:48:23YTGFLT4:3:2482:6202:8917,LH00995:48:23YTGFLT4:4:1190:29889:2780,LH00995:48:23YTGFLT4:4:1372:25715:12476,LH00995:48:23YTGFLT4:4:1407:44694:26124,LH00995:48:23YTGFLT4:4:1476:37470:26839,LH00995:48:23YTGFLT4:5:1211:14219:10024,LH00995:48:23YTGFLT4:5:1344:29331:22271,LH00995:48:23YTGFLT4:5:2221:17576:6311,LH00995:48:23YTGFLT4:5:2375:48407:16385,LH00995:48:23YTGFLT4:5:2432:16509:3312,LH00995:48:23YTGFLT4:6:1203:40414:29557,LH00995:48:23YTGFLT4:6:2485:44832:17871,LH00995:48:23YTGFLT4:7:1439:27009:7348,LH00995:48:23YTGFLT4:7:2182:14599:22817,LH00995:48:23YTGFLT4:8:1161:20149:19678,LH00995:48:23YTGFLT4:8:1233:9543:3158

DTX2

+/+

chr7:76492253

chr7:76463545

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

5365

low

out-of-frame

WWE_domain(100%)|Deltex_C-terminal_domain(100%),WWE_domain(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)

ENSG00000091073.19

ENST00000324432.9

downstream

upstream

duplicates(10),mismatches(3)

CTGCCCCCAGGATCCTCCACCTCCGGTGCAGTCAG___TGCCTCCCTCCCCAGCGGTCCCTCAAGCAGCCCAGGGAGCGTCCCTGCCACTGTGCCCATGCAGATGCCAAAGCCCAGCAGAGTCCAGCAGGCGCTCGCAG|GTGCCTTGGAATTTGTGTCGCTGAGTCAGCAAGCCTTTCAGATTTGCCCGGTTTTTGTTGTTTGTGGTTTGTATCAAGATGGGAACTCAAACAAGTCATTCCTCCTAA

LPPGSSTSGAVSASLPSGPSSSPGSVPATVPMQMPKPSRVQQALA|galefvslsqqafqicpvfvvcglyqdgnsnksfll

LH00995:48:23YTGFLT4:1:1196:12399:7123,LH00995:48:23YTGFLT4:4:2237:23563:20379,LH00995:48:23YTGFLT4:5:1462:14793:29235,LH00995:48:23YTGFLT4:7:1269:24162:27553,LH00995:48:23YTGFLT4:8:1245:9009:4503,LH00995:48:23YTGFLT4:1:1168:22479:14045,LH00995:48:23YTGFLT4:1:1352:27721:9197,LH00995:48:23YTGFLT4:1:1426:5725:18319,LH00995:48:23YTGFLT4:1:2215:4325:10767,LH00995:48:23YTGFLT4:1:2334:27050:11565,LH00995:48:23YTGFLT4:1:2366:12431:18389,LH00995:48:23YTGFLT4:2:1169:27454:28324,LH00995:48:23YTGFLT4:2:1179:12674:6535,LH00995:48:23YTGFLT4:2:1407:23490:26054,LH00995:48:23YTGFLT4:3:1152:28393:18712,LH00995:48:23YTGFLT4:3:1212:7084:2317,LH00995:48:23YTGFLT4:3:2183:3969:2808,LH00995:48:23YTGFLT4:4:1128:32195:22131,LH00995:48:23YTGFLT4:4:1216:31799:17016,LH00995:48:23YTGFLT4:4:1385:1704:26488,LH00995:48:23YTGFLT4:4:2130:7941:21346,LH00995:48:23YTGFLT4:4:2365:25844:15727,LH00995:48:23YTGFLT4:5:1101:50381:16834,LH00995:48:23YTGFLT4:5:1489:16420:16245,LH00995:48:23YTGFLT4:5:2130:1890:20897,LH00995:48:23YTGFLT4:5:2295:36442:21500,LH00995:48:23YTGFLT4:5:2483:25683:4405,LH00995:48:23YTGFLT4:6:1486:36936:2317,LH00995:48:23YTGFLT4:6:2102:48666:7810,LH00995:48:23YTGFLT4:7:1316:33247:7362,LH00995:48:23YTGFLT4:7:1431:33489:13555,LH00995:48:23YTGFLT4:7:1452:15101:27806,LH00995:48:23YTGFLT4:7:1464:41515:23083,LH00995:48:23YTGFLT4:7:1489:29614:2611,LH00995:48:23YTGFLT4:7:2346:17245:7642,LH00995:48:23YTGFLT4:8:1478:42858:1729

ZNF703

FP236383.3

+/+

chr8:37698690

chr21:8399951

3'UTR

intron

translocation

5044

12872

low

stop-codon

NocA-like_zinc-finger_protein_1(100%)|

ENSG00000183779.7

ENSG00000280441.3

ENST00000331569.6

downstream

upstream

duplicates(13)

GCCGGTACCACCCCTATGGCAAGAGCCACTTATCCACAGCGGGGGGCCTGGCCGTGCCGTCCCTCCCCACAGCCGGACCCTACTATTCGCCATACGCGCTGTATGGACAGAGACTAGCTTCAGCCTCGGCGCTGGGATACCAGTAACTACAGCTCTTCCTCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1273:16549:29109,LH00995:48:23YTGFLT4:1:1273:16557:29095,LH00995:48:23YTGFLT4:1:1305:25173:6409,LH00995:48:23YTGFLT4:1:1333:47647:11117,LH00995:48:23YTGFLT4:1:1371:21864:11719,LH00995:48:23YTGFLT4:1:1375:34363:23139,LH00995:48:23YTGFLT4:1:2362:21678:11369,LH00995:48:23YTGFLT4:2:1245:20529:19720,LH00995:48:23YTGFLT4:2:1474:19178:4349,LH00995:48:23YTGFLT4:2:2112:20327:16512,LH00995:48:23YTGFLT4:3:1446:49661:19622,LH00995:48:23YTGFLT4:4:1106:6081:4391,LH00995:48:23YTGFLT4:4:1124:16039:9449,LH00995:48:23YTGFLT4:4:1483:3500:8833,LH00995:48:23YTGFLT4:4:2294:36742:25073,LH00995:48:23YTGFLT4:4:2332:40358:29179,LH00995:48:23YTGFLT4:5:2212:8702:16666,LH00995:48:23YTGFLT4:5:2254:33263:13023,LH00995:48:23YTGFLT4:5:2485:30941:10711,LH00995:48:23YTGFLT4:6:1146:38311:19440,LH00995:48:23YTGFLT4:6:1251:1526:27974,LH00995:48:23YTGFLT4:6:2202:44815:9800,LH00995:48:23YTGFLT4:7:1119:3330:17647,LH00995:48:23YTGFLT4:7:1127:41474:15783,LH00995:48:23YTGFLT4:7:1252:42882:16736,LH00995:48:23YTGFLT4:7:1267:11841:13863,LH00995:48:23YTGFLT4:7:1308:15206:15040,LH00995:48:23YTGFLT4:7:1342:49006:24429,LH00995:48:23YTGFLT4:7:1375:14971:3088,LH00995:48:23YTGFLT4:7:1375:14980:3102,LH00995:48:23YTGFLT4:7:1456:33967:24415,LH00995:48:23YTGFLT4:7:2210:45738:27035,LH00995:48:23YTGFLT4:7:2214:18588:24288,LH00995:48:23YTGFLT4:8:1106:4268:1813,LH00995:48:23YTGFLT4:8:1337:22511:16287

MEGF9

FP236383.3

-/-

+/+

chr9:120713853

chr21:8399951

CDS

intron

translocation

16061

12872

low

out-of-frame

ENSG00000106780.9

ENSG00000280441.3

ENST00000373930.4

upstream

duplicates(17),mismappers(9)

CGCCGACCACCCCTCCGGCGGCGGAACGCACTTCGACCACCTCTCAGGCGCCGACCAGACCCGCGCCGACCACCCTTTCGACGACCACTGGCCCGGCGCCGACCACCCCTGTAGCGACCACCGTACCGGCGCCCACGAC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

PTTPPAAERTSTTSQAPTRPAPTTLSTTTGPAPTTPVATTVPAPTt|pralslsls

LH00995:48:23YTGFLT4:1:1111:46369:10753,LH00995:48:23YTGFLT4:1:1116:21694:15797,LH00995:48:23YTGFLT4:1:1278:17439:6072,LH00995:48:23YTGFLT4:1:1312:3419:14270,LH00995:48:23YTGFLT4:1:1345:43319:16596,LH00995:48:23YTGFLT4:1:1495:11962:28394,LH00995:48:23YTGFLT4:1:2140:22252:18361,LH00995:48:23YTGFLT4:1:2278:14899:21514,LH00995:48:23YTGFLT4:1:2352:26257:24569,LH00995:48:23YTGFLT4:1:2424:11574:29235,LH00995:48:23YTGFLT4:2:1112:39290:23069,LH00995:48:23YTGFLT4:2:1120:43440:1729,LH00995:48:23YTGFLT4:2:1329:3840:11075,LH00995:48:23YTGFLT4:2:1451:32130:13387,LH00995:48:23YTGFLT4:2:2131:42186:11215,LH00995:48:23YTGFLT4:2:2221:12342:21010,LH00995:48:23YTGFLT4:2:2446:28110:24190,LH00995:48:23YTGFLT4:2:2477:46361:12448,LH00995:48:23YTGFLT4:3:1225:14308:24975,LH00995:48:23YTGFLT4:3:1336:11881:20043,LH00995:48:23YTGFLT4:3:1371:28644:19819,LH00995:48:23YTGFLT4:3:1371:28660:19819,LH00995:48:23YTGFLT4:3:1416:15691:24513,LH00995:48:23YTGFLT4:3:2174:16598:18908,LH00995:48:23YTGFLT4:3:2324:17398:1715,LH00995:48:23YTGFLT4:3:2406:36531:24793,LH00995:48:23YTGFLT4:4:1108:44184:25017,LH00995:48:23YTGFLT4:4:1289:8629:18698,LH00995:48:23YTGFLT4:4:2449:40487:27189,LH00995:48:23YTGFLT4:4:2468:39363:1981,LH00995:48:23YTGFLT4:5:1105:38044:7544,LH00995:48:23YTGFLT4:5:2173:1259:14396,LH00995:48:23YTGFLT4:5:2369:39694:21780,LH00995:48:23YTGFLT4:6:1116:49775:14466,LH00995:48:23YTGFLT4:6:1416:42283:28394,LH00995:48:23YTGFLT4:6:2144:19469:22649,LH00995:48:23YTGFLT4:6:2164:13353:26657,LH00995:48:23YTGFLT4:6:2333:6606:10458,LH00995:48:23YTGFLT4:7:1205:8451:16428,LH00995:48:23YTGFLT4:7:1253:45082:4881,LH00995:48:23YTGFLT4:7:1262:26103:18866,LH00995:48:23YTGFLT4:7:1373:11557:28058,LH00995:48:23YTGFLT4:7:1406:20359:19650,LH00995:48:23YTGFLT4:7:2215:39290:1743,LH00995:48:23YTGFLT4:7:2410:38085:20169,LH00995:48:23YTGFLT4:8:1262:21589:15391

LILRB2

FP236383.3

-/-

+/+

chr19:54276879

chr21:8397694

CDS

intron

translocation

2972

443

low

out-of-frame

Immunoglobulin_domain(100%)|

ENSG00000131042.15

ENSG00000280441.3

ENST00000434421.5

upstream

duplicates(19),mismatches(1)

CCTGGAGCTCGTGGTCTCAG___GACCCTCCATGGGTTCCAGCCCCCCACCCACCGGTCCCATCTCCACACCTG___CAGGCCCTGAGGACCAGCCCCTCACCCCCACTGGGTCGGATCCCCAAAGTG___GTCTGGGAAGGCACCTGGGGGTTGTGATCGGCATCTTGGTGGCCGTCGTCC|GTCCGTCCGTCCGTCCTCCTCCTCCC

LELVVSGPSMGSSPPPTGPISTPAGPEDQPLTPTGSDPQSGLGRHLGVVIGILVAVV|rpsvrppp

LH00995:48:23YTGFLT4:1:1421:40633:19650,LH00995:48:23YTGFLT4:1:1425:51522:25732,LH00995:48:23YTGFLT4:1:2355:36620:29375,LH00995:48:23YTGFLT4:2:1130:7165:11425,LH00995:48:23YTGFLT4:2:1275:32842:12854,LH00995:48:23YTGFLT4:2:1358:18361:6885,LH00995:48:23YTGFLT4:2:1376:31855:11817,LH00995:48:23YTGFLT4:2:1417:17164:6521,LH00995:48:23YTGFLT4:2:2327:30245:22733,LH00995:48:23YTGFLT4:3:1123:22778:5652,LH00995:48:23YTGFLT4:3:1303:34654:19889,LH00995:48:23YTGFLT4:3:1303:34671:19889,LH00995:48:23YTGFLT4:3:1327:47064:3802,LH00995:48:23YTGFLT4:3:1430:12083:22215,LH00995:48:23YTGFLT4:3:1439:4916:27988,LH00995:48:23YTGFLT4:3:1439:4924:27974,LH00995:48:23YTGFLT4:3:2134:33004:17086,LH00995:48:23YTGFLT4:3:2156:39484:13597,LH00995:48:23YTGFLT4:4:1159:45349:7053,LH00995:48:23YTGFLT4:4:1294:50786:10865,LH00995:48:23YTGFLT4:4:1354:15465:26082,LH00995:48:23YTGFLT4:4:1359:34784:10304,LH00995:48:23YTGFLT4:4:1371:49645:12756,LH00995:48:23YTGFLT4:4:2206:19122:16806,LH00995:48:23YTGFLT4:4:2255:42405:22299,LH00995:48:23YTGFLT4:4:2340:40212:24443,LH00995:48:23YTGFLT4:4:2362:3354:8861,LH00995:48:23YTGFLT4:4:2469:22697:10612,LH00995:48:23YTGFLT4:5:2409:29388:21612,LH00995:48:23YTGFLT4:6:1216:43958:24877,LH00995:48:23YTGFLT4:6:1381:49904:17212,LH00995:48:23YTGFLT4:6:1491:15400:21850,LH00995:48:23YTGFLT4:6:2133:50082:22509,LH00995:48:23YTGFLT4:6:2249:11274:15265,LH00995:48:23YTGFLT4:6:2458:26225:1981,LH00995:48:23YTGFLT4:6:2494:42429:17997,LH00995:48:23YTGFLT4:7:1158:37866:28983,LH00995:48:23YTGFLT4:8:1248:26152:4741,LH00995:48:23YTGFLT4:8:1426:40325:4153

NR4A3

FP236383.3

+/+

chr9:99828640

chr21:8399951

CDS

intron

translocation

12793

12872

low

out-of-frame

ENSG00000119508.18

ENSG00000280441.3

ENST00000618101.4

downstream

upstream

duplicates(26)

GACGAGGCACTGCCCTCGGCGCCCGGCTGCATCGCACCCGGCCCGCTGCTGGACCCGCCGATGAAGGCGGTCCCCACGGTGGCCGGCGCGCGCTTCCCGCTCTTCCACTTCAAGCCCTCGCCGCCGCATC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

DEALPSAPGCIAPGPLLDPPMKAVPTVAGARFPLFHFKPSPPH|rpapslslsp

LH00995:48:23YTGFLT4:1:1266:50988:17717,LH00995:48:23YTGFLT4:1:1302:35423:21836,LH00995:48:23YTGFLT4:1:1306:2141:4489,LH00995:48:23YTGFLT4:1:2236:30925:20239,LH00995:48:23YTGFLT4:1:2317:39614:26068,LH00995:48:23YTGFLT4:1:2361:11234:25031,LH00995:48:23YTGFLT4:1:2427:33684:8398,LH00995:48:23YTGFLT4:2:1165:4066:13709,LH00995:48:23YTGFLT4:2:1258:34112:11187,LH00995:48:23YTGFLT4:2:1367:23773:19230,LH00995:48:23YTGFLT4:2:1438:40018:6423,LH00995:48:23YTGFLT4:3:1116:4835:17310,LH00995:48:23YTGFLT4:3:1119:32616:21430,LH00995:48:23YTGFLT4:3:1239:36062:2962,LH00995:48:23YTGFLT4:3:1298:5547:18151,LH00995:48:23YTGFLT4:3:1420:1162:15489,LH00995:48:23YTGFLT4:3:2480:27341:28044,LH00995:48:23YTGFLT4:4:1307:20529:14200,LH00995:48:23YTGFLT4:4:1307:20537:14214,LH00995:48:23YTGFLT4:4:1366:19405:2051,LH00995:48:23YTGFLT4:4:1459:14656:3270,LH00995:48:23YTGFLT4:4:2377:29242:2724,LH00995:48:23YTGFLT4:4:2391:7755:4769,LH00995:48:23YTGFLT4:4:2432:2472:20253,LH00995:48:23YTGFLT4:5:1143:1817:27329,LH00995:48:23YTGFLT4:5:1242:38271:27918,LH00995:48:23YTGFLT4:5:1385:29250:10108,LH00995:48:23YTGFLT4:5:1476:10433:12042,LH00995:48:23YTGFLT4:5:2217:31346:23910,LH00995:48:23YTGFLT4:5:2428:4244:11635,LH00995:48:23YTGFLT4:5:2470:2877:10220,LH00995:48:23YTGFLT4:6:1269:31062:19524,LH00995:48:23YTGFLT4:6:1316:10983:15489,LH00995:48:23YTGFLT4:7:1168:15133:20099,LH00995:48:23YTGFLT4:7:1233:47898:6647,LH00995:48:23YTGFLT4:7:2197:19486:16820,LH00995:48:23YTGFLT4:7:2291:20934:6773,LH00995:48:23YTGFLT4:7:2471:18960:6857,LH00995:48:23YTGFLT4:8:1268:21953:6493,LH00995:48:23YTGFLT4:8:1330:37445:6675,LH00995:48:23YTGFLT4:8:1427:23903:26348,LH00995:48:23YTGFLT4:8:2147:36183:16512

CALM3

FP236383.3

+/+

chr19:46609205

chr21:8399953

3'UTR

intron

translocation

7887

12872

low

stop-codon

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

ENSG00000160014.17

ENSG00000280441.3

ENST00000291295.14

downstream

upstream

duplicates(6),mismatches(2)

TGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAG___AGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1264:30197:10066,LH00995:48:23YTGFLT4:1:2371:7391:23055,LH00995:48:23YTGFLT4:2:1240:14915:13919,LH00995:48:23YTGFLT4:2:2359:22892:29473,LH00995:48:23YTGFLT4:2:2442:28118:21318,LH00995:48:23YTGFLT4:3:1178:8459:19692,LH00995:48:23YTGFLT4:3:1211:38635:16526,LH00995:48:23YTGFLT4:3:1391:38206:22565,LH00995:48:23YTGFLT4:3:1440:9939:10178,LH00995:48:23YTGFLT4:3:2154:45576:23672,LH00995:48:23YTGFLT4:3:2387:49613:9113,LH00995:48:23YTGFLT4:4:1223:23199:11593,LH00995:48:23YTGFLT4:4:1283:24938:2023,LH00995:48:23YTGFLT4:5:1125:34921:22621,LH00995:48:23YTGFLT4:5:1182:8993:22831,LH00995:48:23YTGFLT4:5:1338:12528:6815,LH00995:48:23YTGFLT4:5:2135:32292:22635,LH00995:48:23YTGFLT4:5:2144:33862:8062,LH00995:48:23YTGFLT4:5:2333:22107:29599,LH00995:48:23YTGFLT4:5:2470:4430:12238,LH00995:48:23YTGFLT4:6:2148:18240:5610,LH00995:48:23YTGFLT4:7:2211:12836:28506,LH00995:48:23YTGFLT4:7:2365:12779:15853,LH00995:48:23YTGFLT4:8:1243:50867:15068,LH00995:48:23YTGFLT4:8:1264:28716:17114

ATF5

FP236383.3

+/+

chr19:49932672

chr21:8399952

CDS

intron

translocation

12722

12872

low

out-of-frame

ENSG00000169136.12

ENSG00000280441.3

ENST00000423777.7

downstream

upstream

duplicates(3)

ACCCTCCCCCAACCTTCCCCAACCCCACCTGACCTGGAAGCTATGGCCTCCCTCCTCAAGAAGGAGCTGGAACAGATGGAAGACTTCTTCCTAGATGCCCCGCCCCTCCCACCACCCTCCCCGCCGCCACTACCACCACCACCACTACCACCAGCCCCCTCCCTCCCCCTG|CCCCGCGCCCTCTCTCTCTCTCTCTCCCCCG

TLPQPSPTPPDLEAMASLLKKELEQMEDFFLDAPPLPPPSPPPLPPPPLPPAPSLPL|pralslslsp

LH00995:48:23YTGFLT4:1:1263:45851:7390,LH00995:48:23YTGFLT4:1:1340:29145:16568,LH00995:48:23YTGFLT4:1:2128:15667:15839,LH00995:48:23YTGFLT4:1:2315:19931:3830,LH00995:48:23YTGFLT4:1:2429:5814:14858,LH00995:48:23YTGFLT4:2:1376:5296:12504,LH00995:48:23YTGFLT4:2:1446:20084:16960,LH00995:48:23YTGFLT4:2:1452:24137:12966,LH00995:48:23YTGFLT4:3:1260:48634:25101,LH00995:48:23YTGFLT4:3:1367:21039:16119,LH00995:48:23YTGFLT4:3:2106:12140:14718,LH00995:48:23YTGFLT4:4:1493:37583:8202,LH00995:48:23YTGFLT4:5:1322:39727:18613,LH00995:48:23YTGFLT4:6:1330:34638:9211,LH00995:48:23YTGFLT4:6:1493:39719:18291,LH00995:48:23YTGFLT4:6:2379:45438:23742,LH00995:48:23YTGFLT4:6:2409:27535:3971,LH00995:48:23YTGFLT4:8:1269:17965:18445

WBP2

FP236383.3

-/-

+/+

chr17:75846715

chr21:8399954

3'UTR

intron

translocation

5418

12872

low

stop-codon

GRAM_domain(100%)|

ENSG00000132471.12

ENSG00000280441.3

ENST00000591399.5

upstream

duplicates(5)

CCGCCAGCGCCTATTACAACCCAGGCAATCCTCACAACGTCTACATGCCCACG___AGCCAGCCGCCGCCACCTCCCTACTACCCACCGGAAGATAAGAAGACCCAGTAGGCCCTCCTGCCTCCCTGCC|CCGCGCCCTCTCTCTCTCTCTCTCCCC

LH00995:48:23YTGFLT4:1:2260:5361:20379,LH00995:48:23YTGFLT4:1:2365:27762:22831,LH00995:48:23YTGFLT4:1:2379:45107:17114,LH00995:48:23YTGFLT4:2:1162:5409:11383,LH00995:48:23YTGFLT4:3:1166:20189:26811,LH00995:48:23YTGFLT4:3:1482:32786:14942,LH00995:48:23YTGFLT4:3:2311:42858:11789,LH00995:48:23YTGFLT4:4:2449:22018:7838,LH00995:48:23YTGFLT4:5:2111:34282:16442,LH00995:48:23YTGFLT4:5:2149:40835:11285,LH00995:48:23YTGFLT4:6:2148:45268:22439,LH00995:48:23YTGFLT4:6:2365:19550:12532,LH00995:48:23YTGFLT4:7:1301:42445:25479,LH00995:48:23YTGFLT4:7:1452:14583:10711,LH00995:48:23YTGFLT4:8:1190:7658:7376,LH00995:48:23YTGFLT4:8:1278:22956:15573,LH00995:48:23YTGFLT4:8:1405:23336:3732

RAD51D

RFFL

-/-

chr17:35101201

chr17:35026561

CDS/splice-site

5'UTR/splice-site

deletion/read-through

617

1373

low

out-of-frame

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

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

duplicates(7)

GTGACCAACCACATAACTCGAGACAGGGACAGCGGGAGGCTCAAACCTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTC

VTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|ilscgqpaatgsawmdslrrshhprepgcrpiptlgtapsl

LH00995:48:23YTGFLT4:3:1465:37348:29347,LH00995:48:23YTGFLT4:3:1465:37356:29333,LH00995:48:23YTGFLT4:3:2322:41846:9954,LH00995:48:23YTGFLT4:5:1341:16023:2976,LH00995:48:23YTGFLT4:6:2336:36588:26769,LH00995:48:23YTGFLT4:6:2488:23118:23672,LH00995:48:23YTGFLT4:7:2314:31329:29431,LH00995:48:23YTGFLT4:8:1355:25440:15951,LH00995:48:23YTGFLT4:1:2345:44864:10921,LH00995:48:23YTGFLT4:1:2345:44872:10907,LH00995:48:23YTGFLT4:1:2345:44880:10921,LH00995:48:23YTGFLT4:2:2122:21314:23658,LH00995:48:23YTGFLT4:3:2337:32268:6143,LH00995:48:23YTGFLT4:3:2446:8718:24457,LH00995:48:23YTGFLT4:5:1216:16468:15853,LH00995:48:23YTGFLT4:5:1216:16484:15853

RAD51D

RFFL

-/-

chr17:35101201

chr17:35021781

CDS/splice-site

deletion/read-through

617

1053

low

in-frame

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

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

duplicates(2)

TTGGCCTTGATGATGCAGCTGGCCCGAGAGCTGAAGACCCTGGCCCGGGACCTTGGCATGGCAGTGGTG___GTGACCAACCACATAACTCGAGACAGGGACAGCGGGAGGCTCAAACCTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|CAGACCTGCTTGGACTGTAAGAAAAATTTTTGCATGACCTGTTCGAGCCAAGTAGGGAATGGGCC

LALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|QTCLDCKKNFCMTCSSQVGNG

LH00995:48:23YTGFLT4:4:1188:41418:16638,LH00995:48:23YTGFLT4:4:1188:41434:16638,LH00995:48:23YTGFLT4:4:1498:7245:16470,LH00995:48:23YTGFLT4:4:2188:50033:17240

ITGB1

CCDC7

-/-

+/-

chr10:32958145

chr10:32762017

5'UTR/splice-site

intron

deletion/read-through/5'-5'

5547

low

ENSG00000150093.20

ENSG00000216937.13

ENST00000678989.1

upstream

downstream

duplicates(1),mismatches(1)

CCGCCACCCGCCGCGCCCGACACCCGGGAGGCCCCGCCAGCCCGCGGGAGAGGCCCAGCGGGAGTCGCGGAACAGCAGGCCCGAGCCCACCGCGCCGGGCCCCGGACGCCGCGCGGAAAAG|TTTCCCAATGTGTAGGAGTCGCTCAACCACTTTCTGGCTCTCAGAGAGAATTGATCCATGTGGAAATGTTTATTCTCTGCATCTGTGGGAGAGAGAAAAGTAAGGAACCTCCTATTCCACCATGTTGCTGACATCAGTCTCTACAAATTCTGCTTCCAAAGGCAAGGAG

LH00995:48:23YTGFLT4:3:1318:43084:21458,LH00995:48:23YTGFLT4:6:1486:17479:24358,LH00995:48:23YTGFLT4:7:1467:38449:7740,LH00995:48:23YTGFLT4:7:1467:38457:7754,LH00995:48:23YTGFLT4:8:1222:30270:15965,LH00995:48:23YTGFLT4:8:1370:2343:19833,LH00995:48:23YTGFLT4:2:1471:36200:8889,LH00995:48:23YTGFLT4:3:1434:14761:21640,LH00995:48:23YTGFLT4:3:2226:45616:7067,LH00995:48:23YTGFLT4:5:1450:27276:22074,LH00995:48:23YTGFLT4:7:1369:49313:13919

SPECC1L

ADORA2A

+/+

chr22:24369320

chr22:24440583

CDS/splice-site

deletion/read-through

1384

284

low

out-of-frame

Calponin_homology_(CH)_domain(16%)|7_transmembrane_receptor_(rhodopsin_family)(66%)

ENSG00000100014.20

ENSG00000128271.22

ENST00000437398.5

ENST00000611543.4

downstream

upstream

duplicates(6)

AGCCGAATAAG___AGAAGAAAGGAAAGACCCTCTCTCAGCATTGGCCAGAGAATATGGAGGATCAAAGAGGAACGCCTTGCTGAAGTGGTGTCAGAAGAAAACAGAAGGCTATCAG|GTACAATGGCTTGGTGACCGGCACGAGGGCTAAGGGCATCATTGCCATCTGCTGGGTGCTGTCGTTTGCCATCGGCCTGACTCCCATGCTAGGTTGGAACAACTGCGGTCAGCCAAAGGAGGGCAAGAACCACTCCCAGGGCTG

SRIREERKDPLSALAREYGGSKRNALLKWCQKKTEGYQ|vqwlgdrheg*

LH00995:48:23YTGFLT4:1:1127:5441:21528,LH00995:48:23YTGFLT4:1:1306:26629:21962,LH00995:48:23YTGFLT4:1:2454:1089:8132,LH00995:48:23YTGFLT4:3:2441:8063:23882,LH00995:48:23YTGFLT4:5:2340:16533:16021,LH00995:48:23YTGFLT4:7:1449:36499:2822,LH00995:48:23YTGFLT4:7:1449:36507:2836,LH00995:48:23YTGFLT4:8:1278:29056:18936,LH00995:48:23YTGFLT4:1:2128:44581:14998,LH00995:48:23YTGFLT4:2:1284:8402:9113,LH00995:48:23YTGFLT4:2:2401:17754:1070,LH00995:48:23YTGFLT4:4:2339:15344:20771,LH00995:48:23YTGFLT4:6:1241:28053:21850,LH00995:48:23YTGFLT4:6:1263:27835:10150,LH00995:48:23YTGFLT4:7:1232:46975:20939

SPECC1L

ADORA2A

+/+

chr22:24369320

chr22:24433131

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1384

low

out-of-frame

Calponin_homology_(CH)_domain(16%)|7_transmembrane_receptor_(rhodopsin_family)(100%)

ENSG00000100014.20

ENSG00000128271.22

ENST00000437398.5

ENST00000611543.4

downstream

upstream

duplicates(5)

TCTGATGGCTATGGGAACCACGTCTCCACAGCTTTCCCTGTCCTCTTCTCCAACGGCATCTGTGACTCCCACCACCCGAAGCCGAATAAG___AGAAGAAAGGAAAGACCCTCTCTCAGCATTGGCCAGAGAATATGGAGGATCAAAGAGGAACGCCTTGCTGAAGTGGTGTCAGAAGAAAACAGAAGGCTATCAG|GTGCCTCAGGAACCCTGAAGCTGGGCTGAGCCATGATGCTGCTGCCAGAACCCCTGCAGAGGGCCTGGTTTCAGGAGACTCAGAGTCCTCTGTGAAAAAGCCCTTGGAGAGCGCCC

LMAMGTTSPQLSLSSSPTASVTPTTRSRIREERKDPLSALAREYGGSKRNALLKWCQKKTEGYQ|vpqep*

LH00995:48:23YTGFLT4:1:1301:27414:9477,LH00995:48:23YTGFLT4:1:1311:22689:20996,LH00995:48:23YTGFLT4:2:1303:47129:25718,LH00995:48:23YTGFLT4:3:2222:21581:7866,LH00995:48:23YTGFLT4:3:2222:21589:7880,LH00995:48:23YTGFLT4:3:2279:40592:25550,LH00995:48:23YTGFLT4:3:2492:36353:2205,LH00995:48:23YTGFLT4:4:2182:10829:9085,LH00995:48:23YTGFLT4:6:2183:22964:18529,LH00995:48:23YTGFLT4:7:1359:23353:17689

SLCO1B3

SLCO1B7

+/+

chr12:20901467

chr12:21015639

CDS/splice-site

exon/splice-site

deletion/read-through

1024

low

out-of-frame

Kazal-type_serine_protease_inhibitor_domain(100%),Organic_Anion_Transporter_Polypeptide_(OATP)_family(100%)|

ENSG00000111700.13

ENSG00000205754.12

ENST00000381545.8

ENST00000648739.1

downstream

upstream

duplicates(9),low_entropy(2),mismappers(7)

AACAGGAGGTACCACATTTATCTTGTTGACTGTGAA___GATTGTTCAACCTGAATTGAAAGCACTTGCAATGGGTTTCCAGTCAATGGTTATAAGAACACTAG___GAGGAATTCTAGCTCCAATATATTTTGGGGCTCTGATTGATAAAACATGTATGAAGTGGTCCACCAACAGCTGTGGAGCACAAGGaGCTTGTAGGATATATAATTCCGTATTTTTTGG|ATCTTCTTGACACTCCTGTCATTCAGCTATGTTGCTAAAGCACTAGCTGGAATTTTTATGAAAATATCAACCACTCAAATAGAAAGGAGATTTGAGATATCCTCTTCTCTTGTTGGTTTAATTGATGGAAGCTTCGAAATAG___GAAATTTGTTTGTGATTGTATTTGTAAGTTACTTTGGATCTAAACTACACAGACCGAAGTTAATTGGAATTGGTTGTTTTCTTA

TGGTTFILLTVKIVQPELKALAMGFQSMVIRTLGGILAPIYFGALIDKTCMKWSTNSCGAQGACRIYNSVFFg|ss*

LH00995:48:23YTGFLT4:1:1118:19931:9940,LH00995:48:23YTGFLT4:1:1142:37850:3340,LH00995:48:23YTGFLT4:1:1247:38343:16161,LH00995:48:23YTGFLT4:2:1344:25569:27441,LH00995:48:23YTGFLT4:2:2184:36782:7123,LH00995:48:23YTGFLT4:2:2320:27721:17997,LH00995:48:23YTGFLT4:2:2368:5805:8903,LH00995:48:23YTGFLT4:3:1286:12480:14634,LH00995:48:23YTGFLT4:3:1361:15554:11972,LH00995:48:23YTGFLT4:3:2166:45244:14158,LH00995:48:23YTGFLT4:4:2121:28975:15797,LH00995:48:23YTGFLT4:4:2121:28983:15783,LH00995:48:23YTGFLT4:4:2395:23296:26867,LH00995:48:23YTGFLT4:5:1123:8839:23770,LH00995:48:23YTGFLT4:6:1354:10668:19622,LH00995:48:23YTGFLT4:6:2278:14599:28254,LH00995:48:23YTGFLT4:6:2278:14615:28254,LH00995:48:23YTGFLT4:6:2321:2513:27525,LH00995:48:23YTGFLT4:2:1205:35836:19300,LH00995:48:23YTGFLT4:2:2247:40779:27329,LH00995:48:23YTGFLT4:2:2247:40787:27315,LH00995:48:23YTGFLT4:3:1485:17140:16428,LH00995:48:23YTGFLT4:3:2142:42534:26138,LH00995:48:23YTGFLT4:4:1145:12310:24008,LH00995:48:23YTGFLT4:8:1439:52177:26642

SLCO1B3

SLCO1B7

+/+

chr12:20855169

chr12:21019248

CDS/splice-site

exon/splice-site

deletion/read-through

1730

low

out-of-frame

Organic_Anion_Transporter_Polypeptide_(OATP)_family(6%)|

ENSG00000111700.13

ENSG00000205754.12

ENST00000381545.8

ENST00000648739.1

downstream

upstream

duplicates(1)

ACCTGACAGTGGCAATGTATGGCCACGTTACTGAATCTACATGTTGCAAGAGAAAAACTAGCAG___ATGTTCTTGGCAGCCCTGTCATTCAGCTATATTGCTAAAGCACTAGGTGGAATCATTATGAAAATTTCCATCACTCAAATAGAAAGGAGATTTGAgATATCCTCTTCTCTTGtTGGTTTAATTGATGGAAGCTTcGAAATaG|GAAATTTGTTTGTGATTGTATTTGTAAGTTAC

pdsgnvwpry*iymlqekn*qMFLAALSFSYIAKALGGIIMKISITQIERRFeISSSLvGLIDGSFEI|gnlfvivfvs

LH00995:48:23YTGFLT4:5:2431:20109:2149,LH00995:48:23YTGFLT4:6:2198:34428:15236

SLCO1B3

SLCO1B7

+/+

chr12:20858571

chr12:21015639

CDS/splice-site

exon/splice-site

deletion/read-through

1384

low

stop-codon

Organic_Anion_Transporter_Polypeptide_(OATP)_family(12%)|

ENSG00000111700.13

ENSG00000205754.12

ENST00000381545.8

ENST00000648739.1

downstream

upstream

duplicates(1)

TTGTAAGTTACTTTGGATCTAAACTACACAGACCGAAGTTAATTGGAATTGGTTGTtTCCTTATGGGAACTGGAAGTATTTTGACAgCTTTACCACATTTCTTCATGGGATA|ATCTTCTTGACACTCCTGTCATTCAGCTATGTTGCTAAAGC

LH00995:48:23YTGFLT4:1:2440:32300:24583,LH00995:48:23YTGFLT4:8:1426:13798:2065

DGKG

-/-

chr3:186161603

chr3:186242568

CDS/splice-site

duplication/non-canonical_splicing

381

132

low

in-frame

Diacylglycerol_kinase_N-terminus(100%),Diacylglycerol_kinase_accessory_domain(100%),Diacylglycerol_kinase_catalytic_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%)|Diacylglycerol_kinase_accessory_domain(94%)

ENSG00000058866.15

ENST00000265022.8

upstream

downstream

GTGCAGGCAGGAGGCTGGCCCAGTGCGCCTCTGTCACCATCAG___GACAAACAAGCTGCTGCCAATGCAAGTGGATGGAGAACCCTGGATGCAGCCATGTTGCACG|GACGCTTCCATTGCACACAGATTCCATGTGATGAGAGAGAAACATCCTGAAAAATTCAACAGCAG___GATGAAGAACAAGCTGTGGTACTTTGAATTTGGCACCTCGGAGACTTTTGCAGCGACCTGCAAG

AGRRLAQCASVTIRTNKLLPMQVDGEPWMQPCCT|DASIAHRFHVMREKHPEKFNSRMKNKLWYFEFGTSETFAATC

LH00995:48:23YTGFLT4:3:1437:46442:24835,LH00995:48:23YTGFLT4:5:2493:46741:19720,LH00995:48:23YTGFLT4:6:1198:30795:7824,LH00995:48:23YTGFLT4:4:2270:15222:23504,LH00995:48:23YTGFLT4:4:2385:12690:24695,LH00995:48:23YTGFLT4:5:1154:48140:16652,LH00995:48:23YTGFLT4:6:1126:5846:23546

AGAP3

HOXD11

+/+

chr7:151086814

chr2:176107588

CDS

translocation

272

low

in-frame

|Homeodomain(100%),Protein_of_unknown_function_(DUF3528)(57%)

ENSG00000133612.19

ENSG00000128713.14

ENST00000397238.7

ENST00000249504.7

downstream

upstream

duplicates(4)

CGCCGCCCCGGGCCCGCCTCGGGCCCCACGGCTCCGAAGCCATGAACTTCCAGGCGGGCGGGGGGCAGAGCCCGCAGCAGCAGCAGAGCCTGGCGGCTCCGGGGGGCGGCGGCG|GCGGCGGCGGCGGCAGCGCGGGGGGCGGC

MNFQAGGGQSPQQQQSLAAPGGGG|gGGGGSAGG

LH00995:48:23YTGFLT4:1:1482:49063:11944,LH00995:48:23YTGFLT4:2:2144:14049:8188,LH00995:48:23YTGFLT4:3:1125:16096:3662,LH00995:48:23YTGFLT4:3:2311:38457:13107,LH00995:48:23YTGFLT4:5:1464:51797:18193,LH00995:48:23YTGFLT4:5:2158:22398:8441,LH00995:48:23YTGFLT4:7:1449:24663:6535,LH00995:48:23YTGFLT4:7:1475:27705:8076,LH00995:48:23YTGFLT4:7:1475:27713:8062,LH00995:48:23YTGFLT4:8:1418:24469:13009

WEE2-AS1

DENND11

-/-

chr7:141723916

chr7:141686658

exon/splice-site

CDS/splice-site

deletion/read-through

2324

low

|DENN_domain-containing_protein_11(96%)

ENSG00000228775.8

ENSG00000257093.7

ENST00000665340.1

ENST00000536163.6

upstream

downstream

duplicates(2)

TTCTTCTATGACTCCAGAGGATTCACTTTGCATCTTGTGACAAATGAATATATTACCTGAAAAAAAAATGACAGGATAGAT|GAAACATGGTAGAATGGTGCTTACCTCAAGATATTGACCTTGAAGGTGTTGAGTTCAAGTCTATGGCCAGTGGGTCCCATAAAATCCAATCTGATTTCAT___CTATTTCCGAAAGGGGCCCTTCTTCGGCCTGGCCTGCTTTGCCAACATGCCCGT

LH00995:48:23YTGFLT4:1:1479:30156:20954,LH00995:48:23YTGFLT4:2:2429:47275:29305,LH00995:48:23YTGFLT4:3:2494:33352:17296,LH00995:48:23YTGFLT4:5:1410:9948:12546,LH00995:48:23YTGFLT4:5:1483:23231:13611,LH00995:48:23YTGFLT4:5:2182:12488:9772,LH00995:48:23YTGFLT4:5:2182:14793:15166,LH00995:48:23YTGFLT4:6:2468:23005:29613

WEE2-AS1

DENND11

-/-

chr7:141714188

chr7:141686657

intron

CDS/splice-site

deletion/read-through

2324

low

|DENN_domain-containing_protein_11(95%)

ENSG00000228775.8

ENSG00000257093.7

ENST00000462383.6

ENST00000536163.6

upstream

downstream

GGAGCAGGTGTGAGCTTCAAATGCTTAGGGCCTCTGGAAGGAAGCTTCCCTGTTGGAGAAATCACCAACCGGCTCAGCATGGTCTGAATGAGGATGACAAAAGG|AAACATGGTAGAATGGTGCTTACCTCAAGATATTGACCTTGAAGGTGTTGAGTTCAAGTCTATGGCCAGTGGGTCCCATAAAATCCAATCTGATTTCA

LH00995:48:23YTGFLT4:7:1242:13119:1084,LH00995:48:23YTGFLT4:2:1378:16096:15965,LH00995:48:23YTGFLT4:4:1437:29679:29095,LH00995:48:23YTGFLT4:7:1425:52177:27399

WEE2-AS1

DENND11

-/-

chr7:141727992

chr7:141686658

exon/splice-site

CDS/splice-site

deletion/read-through

2324

low

|DENN_domain-containing_protein_11(96%)

ENSG00000228775.8

ENSG00000257093.7

ENST00000665340.1

ENST00000536163.6

upstream

downstream

GGTATCTTCCCTGCCAG|GAAACATGGTAGAATGGTGCTTACCTCAAGATATTGACCTTGAAGGTGTTGAGTTCAAGTCTATGGCCAGTGGGTCCCATAAAATCCAATCTGATTTCAT___CTATTTCCGAAAGGGGCCCTTCTTCGGC

LH00995:48:23YTGFLT4:1:1345:44548:26965

GUCY2EP

LRRC32

-/-

chr11:76703335

chr11:76665958

exon/splice-site

5'UTR/splice-site

deletion/read-through

2139

low

|Leucine_rich_repeat(100%),Leucine_rich_repeat_N-terminal_domain(100%)

ENSG00000204529.4

ENSG00000137507.11

ENST00000531117.2

ENST00000260061.9

upstream

downstream

duplicates(6)

CGGAAAATGGGGGCAACTGTGGAACCAGGGTATTTTGACCAGGTTACCATATACTTCAGTGACATTGTGGGTTTCACCATCATCTCAGCCCTGAGTGAACCCATTGAGGCGGTGGGCTTGCTCAACGATCTCTACATGCTGTTTGATGCTGTTCTGGGCAGCCATGACCTGTATAAG|AGCCATGAGACCCCAGATCCTGCTGCTCCTGGCCCTGCTGACCCTAGGCCTGGCTGCACAACACCAAGACAAAGTGCCCTGTAAGATG___GTGGACAAGAAGGTCTCGTGCCAGGTTCTGGGCCTGCTCCAGGTCCCCTCGGTGCTCC

LH00995:48:23YTGFLT4:5:1127:39735:24933,LH00995:48:23YTGFLT4:5:1127:39743:24947,LH00995:48:23YTGFLT4:5:1229:6566:5204,LH00995:48:23YTGFLT4:5:1486:4058:1757,LH00995:48:23YTGFLT4:7:2134:19615:1715,LH00995:48:23YTGFLT4:7:2278:29995:9239,LH00995:48:23YTGFLT4:7:2382:44370:12812,LH00995:48:23YTGFLT4:2:1390:23781:28520,LH00995:48:23YTGFLT4:3:2485:27026:23742,LH00995:48:23YTGFLT4:4:1331:36968:7754,LH00995:48:23YTGFLT4:5:2173:31160:21178,LH00995:48:23YTGFLT4:7:1326:43861:22411

AC016168.4

PDAP1

-/-

chr17:76840859

chr7:99398010

exon

CDS

translocation

5247

low

|Casein_kinase_substrate_phosphoprotein_PP28(63%)

ENSG00000287836.1

ENSG00000106244.13

ENST00000666866.1

ENST00000350498.8

upstream

downstream

duplicates(1),mismatches(1)

GGGCGGGGAGAGGAGAGAAcGAGA|AGAGATTGAGAAGCAGAAGGCAAAAGAGCGTTACATGAAAATGCACTTGGCCGGGAAGACAGAGCAAGCCAAGGCTGACCTGGCCCGGCTGGCCATCATCCGGAAACAGCGGGAGGAGGCTGC

LH00995:48:23YTGFLT4:2:1190:50770:10893,LH00995:48:23YTGFLT4:2:2183:45552:26937,LH00995:48:23YTGFLT4:3:1417:34145:20883,LH00995:48:23YTGFLT4:4:1125:50883:6605,LH00995:48:23YTGFLT4:5:1240:23369:21444,LH00995:48:23YTGFLT4:5:1240:37219:12812,LH00995:48:23YTGFLT4:5:2442:3014:12952,LH00995:48:23YTGFLT4:5:2475:21629:7810

NUDCD1

AC104248.1

-/-

chr8:109243149

chr8:109044125

CDS

exon/splice-site

deletion/read-through

1006

low

out-of-frame

CS_domain(100%)|

ENSG00000120526.12

ENSG00000253796.2

ENST00000239690.9

ENST00000522244.1

upstream

downstream

duplicates(6)

AGATGATATGTGGGAGCACATCGCAACTTTCAATGCTTTAG___GCTATGTCCAAGCATCAAAGAGAGACAAAAAATTTTTTGCCTGTGCTCCAAATTACTCGTATGCAGCCCTTTGTGAGTGCCTTCGTCGAGTATTCATCTATCGTCAGCCTGCTCCCATGTCCACTGTACTTTACAACAGAAAGGAAGGCAGGC|TCATAGGCGGAAGGGACTTGCCTTGTCTTGGATGAGACTTGAGACTGTGGACTTTTGAGTTAATGCTGAA___GACGGGACTTGCTCCTCTCTGCCTTCTGCCATGATTGTGAGGCCTTCCCAGCCAAGTAGAACT___GCTATTTGCTTTTGAGCTACTCCGGGAGAGGAGCAGAGTCGGTTTGAGTTGCATGACTGAC

DDMWEHIATFNALGYVQASKRDKKFFACAPNYSYAALCECLRRVFIYRQPAPMSTVLYNRKEGR|liggrdlpclg*

LH00995:48:23YTGFLT4:1:2481:18677:27946,LH00995:48:23YTGFLT4:6:2137:36450:6241,LH00995:48:23YTGFLT4:7:1430:3014:24807,LH00995:48:23YTGFLT4:7:2191:11938:28884,LH00995:48:23YTGFLT4:8:1485:13742:22004,LH00995:48:23YTGFLT4:3:2481:4835:11817,LH00995:48:23YTGFLT4:3:2481:4851:11817,LH00995:48:23YTGFLT4:4:1280:15344:25311,LH00995:48:23YTGFLT4:5:1228:4883:4559,LH00995:48:23YTGFLT4:7:1396:26459:24779,LH00995:48:23YTGFLT4:7:2396:24995:12826

NUDCD1

AC104248.1

-/-

chr8:109245322

chr8:109044127

CDS/splice-site

exon/splice-site

deletion/read-through

1638

low

out-of-frame

CS_domain(100%)|

ENSG00000120526.12

ENSG00000253796.2

ENST00000239690.9

ENST00000522244.1

upstream

downstream

TGGCAgTACATTAAAAACTACTCATGTG___GTGAATCTTGGAAGCAACCAGTACCTTTTCTCTGTCATAGTGGATCCTAAAGAAATGCCCTGCTTCTGTTTGCGCCATGATGTTGATGCCCTACTCTGGCAACCACACTCCAGCAAACAAGATGATATGTGGGAGCACATCGCAACTTTCAATGCTTTAG|GCTCATAGGCGGAAGGGACTTGCCTTGTCTTGGATGAGAtTTGAGAC

GsTLKTTHVVNLGSNQYLFSVIVDPKEMPCFCLRHDVDALLWQPHSSKQDDMWEHIATFNAL|gs*

LH00995:48:23YTGFLT4:1:2373:26176:25409

TMED7

TICAM2

-/-

chr5:115620435

chr5:115581315

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1815

low

out-of-frame

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(1)

ACAAATTTTGCTTCAGCAATGAATTTTCTACTTTCACACATAAAACTGTATATTTTGATTTTCAAGTTGGAGAAGACCCACCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGCACAGCAATACAACA

KFCFSNEFSTFTHKTVYFDFQVGEDPPLFPSENRVSALTQ|iekkc*

LH00995:48:23YTGFLT4:2:2448:25545:6605,LH00995:48:23YTGFLT4:5:1134:1089:10318,LH00995:48:23YTGFLT4:6:1173:44637:9996,LH00995:48:23YTGFLT4:7:2209:6930:23546,LH00995:48:23YTGFLT4:7:2421:34185:6885,LH00995:48:23YTGFLT4:4:2329:37874:14900

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

1543

low

stop-codon

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(2),low_entropy(1)

GATTTTCAAGTTGGAGAAGACCCACCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG___ATGGAATCTGCCTGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCT

LH00995:48:23YTGFLT4:1:2123:15780:9646,LH00995:48:23YTGFLT4:5:1139:32567:28800,LH00995:48:23YTGFLT4:5:1413:28255:20631,LH00995:48:23YTGFLT4:2:1151:1170:28170,LH00995:48:23YTGFLT4:2:1240:3945:4811,LH00995:48:23YTGFLT4:3:1431:11744:13751,LH00995:48:23YTGFLT4:3:2453:14640:7950,LH00995:48:23YTGFLT4:5:1206:41078:5540

KIAA1671

IGLL3P

+/+

chr22:25185119

chr22:25318260

CDS/splice-site

exon

deletion/read-through

2355

low

out-of-frame

Tankyrase_binding_protein_C_terminal_domain(90%)|

ENSG00000197077.13

ENSG00000206066.3

ENST00000406486.8

ENST00000412472.2

downstream

upstream

duplicates(5)

CCAGGCATGGATCCGGCAGTGCTAAAG___GCTCAGCTGCACAAGAGGCCAGAGGTGGACAGTCCTGGCGAGACCCCCAGCTGGGCACCCCAACCCAAGAGCCCCAAGTCCCCCTTCCAGCCTGGGGTGCTGGGCAGTCGCGTGCTGCCTTCCAGCATGGACAAGGATGAGAG|GTTCCTGCTCCAGCGCGGCTCCTGGACTGGCCCCGGGTGCTGGCCCCGGGGGTTTCAATCCAAGCATAATTCAGTGAAGCATGTGTTTGGCAGCGGGACCCAGCTCACCGTTTTAG___GTCAGCCCAAGGCCACCCCCTCGGTCACTCTGTTCCTGCCGTCCTCTGAGGAGCTCCAAGCCAACAAGGCCACACTGGTGTGTCTCATGAATGACTTCTATCTGGGAATCTTGACGGTGACCTGGAAGGCAGATGGTACCCC

PGMDPAVLKAQLHKRPEVDSPGETPSWAPQPKSPKSPFQPGVLGSRVLPSSMDKDEr|fllqrgswtgpgcwprgfqskhnsvkhvfgsgtqltvlgqpkatpsvtlflpsseelqankatlvclmndfylgiltvtwkadgt

LH00995:48:23YTGFLT4:1:1109:31880:5106,LH00995:48:23YTGFLT4:1:2172:9656:4223,LH00995:48:23YTGFLT4:2:1276:22115:15377,LH00995:48:23YTGFLT4:3:1377:30399:23812,LH00995:48:23YTGFLT4:3:2118:43764:26334,LH00995:48:23YTGFLT4:3:2434:40617:9281,LH00995:48:23YTGFLT4:5:2451:12464:14045,LH00995:48:23YTGFLT4:7:1195:52016:8679,LH00995:48:23YTGFLT4:7:2321:20133:5358,LH00995:48:23YTGFLT4:2:2150:19389:21108

PEDS1

UBE2V1

-/-

chr20:50127975

chr20:50096820

CDS/splice-site

deletion/read-through

3541

4896

low

in-frame

Lipid_desaturase_domain(82%)|Ubiquitin-conjugating_enzyme(98%)

ENSG00000240849.11

ENSG00000244687.12

ENST00000371652.9

ENST00000340309.7

upstream

downstream

duplicates(4),mismappers(1)

GAGTGCTTCGTCTTCTGCCTGATCATCTTCGGCACCTTCACCAACCAGATCCACAAGTGGTCGCACACGTACTTTGGGCTGCCACGCTGGGTCACCCTCCTGCAGGACTGGCATGTCATCCTGCCACGTAAACACCATCGCATCCACCACGTCTCACCCCACGAGACCTACTTCTGCATCACCACAG|GAGTAAAAGTCCCTCGCAATTTCCGACTGTTGGAAGAACTCGAAGAAGGCCAGAAAGGAGTAGGAGATGGCACAGTTAGCTGGGGTCTAGAAGATGACGAAGACATGACACTTACAAGATGGACAGGGATGATAATTGGGC

ECFVFCLIIFGTFTNQIHKWSHTYFGLPRWVTLLQDWHVILPRKHHRIHHVSPHETYFCITT|gVKVPRNFRLLEELEEGQKGVGDGTVSWGLEDDEDMTLTRWTGMIIG

LH00995:48:23YTGFLT4:1:1186:36895:2219,LH00995:48:23YTGFLT4:4:1264:6881:18081,LH00995:48:23YTGFLT4:7:1129:18482:18277,LH00995:48:23YTGFLT4:7:1129:18499:18277,LH00995:48:23YTGFLT4:7:2174:4454:7404,LH00995:48:23YTGFLT4:4:2318:35560:24148,LH00995:48:23YTGFLT4:4:2451:1186:23994,LH00995:48:23YTGFLT4:4:2451:1202:23994,LH00995:48:23YTGFLT4:5:1260:46555:5806,LH00995:48:23YTGFLT4:5:1266:49556:28800

PEDS1

UBE2V1

-/-

chr20:50153517

chr20:50096820

CDS/splice-site

deletion/read-through

3287

4896

low

in-frame

|Ubiquitin-conjugating_enzyme(98%)

ENSG00000240849.11

ENSG00000244687.12

ENST00000371652.9

ENST00000340309.7

upstream

downstream

duplicates(3)

GGCGTCTTGTTGCCGCTGGGGCGCGCAGCACGCCGGGGCCCGCGAGCTGGCTGCGCTCTACTCGCCAG|GAGTAAAAGTCCCTCGCAATTTCCGACTGTTGGAAGAACTCGAAGAAGGCCAGAAAGGAGTAGGAGATGGCACAGTTAGCTGGGGTCTAGAAG

ASCCRWGAQHAGARELAALYSP|gVKVPRNFRLLEELEEGQKGVGDGTVSWGLE

LH00995:48:23YTGFLT4:1:1221:36871:26446,LH00995:48:23YTGFLT4:1:1221:36879:26432,LH00995:48:23YTGFLT4:2:2215:4058:11453,LH00995:48:23YTGFLT4:2:2254:14171:1841

PEDS1

UBE2V1

-/-

chr20:50143502

chr20:50096820

CDS/splice-site

deletion/read-through

6122

4896

low

in-frame

|Ubiquitin-conjugating_enzyme(98%)

ENSG00000240849.11

ENSG00000244687.12

ENST00000371652.9

ENST00000340309.7

upstream

downstream

duplicates(5)

GCACGCCGGGGCCCGCGAGCTGGCTGCGCTCTACTCGCCAG___GCAAGCGCCTCCAGGAGTGGTGCTCTGTGATCCTGTGCTTCAGCCTCATCGCCCACAACCTGGTCCATCTCCTGCTGCTGGCCCGCTGGGAGGACACACCCCTCGTCATACTCGGTGTTG|GAGTAAAAGTCCCTCGCAATTTCCGACTGTTGGAAGAACTCGAAGAAGGCCAGAAAGGAGTAGGAGATGGCACAGTTAGCTG

HAGARELAALYSPGKRLQEWCSVILCFSLIAHNLVHLLLLARWEDTPLVILGV|gVKVPRNFRLLEELEEGQKGVGDGTVS

LH00995:48:23YTGFLT4:1:1471:41539:28142,LH00995:48:23YTGFLT4:6:1164:34420:14101,LH00995:48:23YTGFLT4:6:2235:41037:13093,LH00995:48:23YTGFLT4:6:2235:41054:13093,LH00995:48:23YTGFLT4:7:1243:36758:19412,LH00995:48:23YTGFLT4:7:2441:22447:6114

PEDS1

UBE2V1

-/-

chr20:50129546

chr20:50096820

CDS/splice-site

deletion/read-through

5468

4896

low

in-frame

Lipid_desaturase_domain(42%)|Ubiquitin-conjugating_enzyme(98%)

ENSG00000240849.11

ENSG00000244687.12

ENST00000371652.9

ENST00000340309.7

upstream

downstream

TCGAGACCAACGGGGACAACTGCtTGGTGACACTGCTGCCGCTGCTAAACATGGCCTACAAGTTCCGCACCCACAGCCCTG|GAGTAAAAGTCCCTCGCAATTTCCGACTGTTGGAAGAAtTCGAAGAAGG

ETNGDNCLVTLLPLLNMAYKFRTHSP|gVKVPRNFRLLEEfEE

LH00995:48:23YTGFLT4:1:1456:41442:10430

KLRC4

KLRK1

-/-

chr12:10407636

chr12:10388875

3'UTR

5'UTR/splice-site

deletion/read-through

179

low

stop-codon

|Lectin_C-type_domain(100%)

ENSG00000183542.5

ENSG00000213809.9

ENST00000309384.2

ENST00000396451.4

upstream

downstream

duplicates(3),mismatches(1)

CACGTCATTGTGGCCATTGTCCTGAGGAGTGGATTACATATTCCAACAGTTGTTATTACATTGGTAAGGAAAGAAGAACTTGGGAAGAAAGAGTTTGCTGGCCTGTGCTTCGAAGAACTCTGATCTGCTTTCTATAGATAATGAGGAAGAAATG|GAATCCTTTGTGCATTGAAGACTTTAGATTCCTCTCTGCGGTAGACGTGCACTTATAAGTATTTGATGG

LH00995:48:23YTGFLT4:1:2170:51935:1112,LH00995:48:23YTGFLT4:2:1258:1340:26390,LH00995:48:23YTGFLT4:2:2427:5417:3018,LH00995:48:23YTGFLT4:4:1196:4349:1785,LH00995:48:23YTGFLT4:4:1196:4365:1785,LH00995:48:23YTGFLT4:5:1182:33845:27623,LH00995:48:23YTGFLT4:7:1398:30844:20547,LH00995:48:23YTGFLT4:8:1442:11760:6941,LH00995:48:23YTGFLT4:8:1453:48472:22327

PNPT1

-/-

chr2:55647346

chr2:55685047

intron

CDS/splice-site

duplication/non-canonical_splicing

2106

1544

low

in-frame

3'_exoribonuclease_family__domain_1(100%),3'_exoribonuclease_family__domain_2(100%),Polyribonucleotide_nucleotidyltransferase__RNA_binding_domain(100%)|3'_exoribonuclease_family__domain_1(82%),3'_exoribonuclease_family__domain_2(100%),KH_domain(100%),Polyribonucleotide_nucleotidyltransferase__RNA_binding_domain(100%),S1_RNA_binding_domain(100%)

ENSG00000138035.15

ENST00000447944.7

upstream

downstream

duplicates(2),mismatches(1)

ATTTCATCTGCTGTTGCAGGCGTAGCAATAGGATTGGTCACCAAAACCGATCCTGAGAAGGGTGAAATAGAAGATTATCGTTTGCTGACAGATATTTTGG|TTGACTACAGACAAAAAGCTGCTGCAGCAGGTAGAATTCCCACAAACTATCTGAGAAGAGAGATTGGTACTTCTGATAAAGAAATTCTAACAAGTCGAATAATAG___ATCGTTCAATTAGACtGCTCTTTCCAGCTGGCTACTTCTATGATACACAG___GTTCTGTGTAATCTGTTAGCAGTAGATGGTGTAAATGAGCCTGATGTCCTAGCAATTAATGGC

ISSAVAGVAIGLVTKTDPEKGEIEDYRLLTDIL|vDYRQKAAAAGRIPTNYLRREIGTSDKEILTSRIIDRSIRlLFPAGYFYDTQVLCNLLAVDGVNEPDVLAIN

LH00995:48:23YTGFLT4:3:2302:44079:6058,LH00995:48:23YTGFLT4:3:2302:44095:6058,LH00995:48:23YTGFLT4:4:2455:12771:1406,LH00995:48:23YTGFLT4:4:2455:12787:1406,LH00995:48:23YTGFLT4:5:2242:26896:22761,LH00995:48:23YTGFLT4:6:2273:19834:28520,LH00995:48:23YTGFLT4:8:1321:29258:9674,LH00995:48:23YTGFLT4:4:1390:33627:3564

OSR1

-/-

chr2:19352311

chr2:19353837

CDS

5'UTR/splice-site

duplication

1382

1133

low

out-of-frame

Zinc_finger__C2H2_type(100%)|Zinc_finger__C2H2_type(100%)

ENSG00000143867.7

ENST00000272223.3

upstream

downstream

duplicates(2)

CTTCAAGTGTCAAGAGTGTGGGAAAGGATTCTGCCAGTCCAGGACTCTCGCTGTCCACAAGACGCTACACTCACAG|ATCCGGATTGAGAAGCCACTGCAACTACCGAAATGGGCAGCAAAACCTTGCCGGCGCCGGTGCCTATCCACCCTTCCCTGCAGCTCACCAACTACTCCTTCCTTCA

FKCQECGKGFCQSRTLAVHKTLHSQ|iriekplqlpkwaakpcrrrclstlpcsspttpsf

LH00995:48:23YTGFLT4:6:1221:43812:26278,LH00995:48:23YTGFLT4:2:2413:7156:9029,LH00995:48:23YTGFLT4:2:2443:29436:19650,LH00995:48:23YTGFLT4:5:2216:50171:3494,LH00995:48:23YTGFLT4:5:2245:39533:20855,LH00995:48:23YTGFLT4:5:2250:13103:15124,LH00995:48:23YTGFLT4:6:1152:6081:10809

TKFC

+/+

chr11:61345946

chr11:61334620

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

2181

1169

low

out-of-frame

DAK2_domain(73%),Dak1_domain(100%)|DAK2_domain(100%),Dak1_domain(100%)

ENSG00000149476.16

ENST00000394900.8

downstream

upstream

GGCTGCTCCAGGGGACAGGACTATG___CTGGATTCTCTGTGGGCAGCGGGGCAGGAGCTCCAAGCCTGGAAGAGCCCAGGAGCTGATCTGTTACAAGTCCTGACCAAAGCAGTCAAG|GTGCTGCTGCTGCCTCCACTGTACTCAGACCCAGGTAGCACAGGATTGTCCATCCTCCAGCAGCTCAGTGCAACGGTGTGAACTCA...CCTGTTTCAGAGCCTCCACACCATG___ACCTCCAAGAAGCTGGTGAACTCGGTGGCTGGCTGTGCTGATGACGCTCTTGCTGGCCTGGTGGCCTGCAACCCCAACCTGCAGCTCCTGCAGGGCCACCGCGTGGCCCTCCGTTCTGACCTGGAC

AAPGDRTMLDSLWAAGQELQAWKSPGADLLQVLTKAVK|vlllpplysdpgstglsilqqlsatv*

LH00995:48:23YTGFLT4:2:1465:32333:19034,LH00995:48:23YTGFLT4:3:1119:8928:28632,LH00995:48:23YTGFLT4:3:1216:6267:10963,LH00995:48:23YTGFLT4:4:1270:42995:1743,LH00995:48:23YTGFLT4:5:2383:11169:3480

NWD1

+/+

chr19:16750411

chr19:16749139

CDS/splice-site

duplication/non-canonical_splicing

849

1752

low

out-of-frame

NACHT_domain(100%)|NACHT_domain(100%),WD_domain__G-beta_repeat(100%)

ENSG00000188039.16

ENST00000524140.7

downstream

upstream

duplicates(4)

ACCGCAGAGGAAGCCACGCACCAACTCTGCACCCGCCTGGAGCAGACACACGGGCAGCTCCTCGTGGCCCACGTGCTGGGCTACATTGTGTCTTCCCG|TCATTGAGTGGGAGATAGAGCGGAGCCTGCTGAGCTCAGAGGACCGGGAACAGGGAGCCACCGTCTTCCTTAG

TAEEATHQLCTRLEQTHGQLLVAHVLGYIVSSr|h*

LH00995:48:23YTGFLT4:2:1419:33781:3550,LH00995:48:23YTGFLT4:3:1111:10862:21976,LH00995:48:23YTGFLT4:7:2111:27843:27735,LH00995:48:23YTGFLT4:1:1198:48270:5750,LH00995:48:23YTGFLT4:2:2341:47356:2093,LH00995:48:23YTGFLT4:3:2419:25052:12252,LH00995:48:23YTGFLT4:4:1172:47396:12112,LH00995:48:23YTGFLT4:5:2178:38861:4503,LH00995:48:23YTGFLT4:6:2149:23061:22341

CRYZL2P

SEC16B

-/-

chr1:178026155

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

low

|Sec23-binding_domain_of_Sec16(100%),Vesicle_coat_trafficking_protein_Sec16_mid-region(100%)

ENSG00000242193.11

ENSG00000120341.18

ENST00000476232.6

ENST00000528461.5

upstream

downstream

duplicates(5),mismappers(2)

GGTAATATAGCTGCTGCTGGAAGTGACGAGAAGTGCAAGCTGGCGATGCAGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTCCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGACAACCGTGGGAGCCCCCAGCCACAGCAGGAGCCCAGGGCAGACCATCAGCAGCgGCC

LH00995:48:23YTGFLT4:1:1476:11161:7109,LH00995:48:23YTGFLT4:1:1476:11169:7095,LH00995:48:23YTGFLT4:1:1486:27810:9632,LH00995:48:23YTGFLT4:2:2188:7019:7950,LH00995:48:23YTGFLT4:2:2237:20918:18796,LH00995:48:23YTGFLT4:4:1108:2149:17843,LH00995:48:23YTGFLT4:6:1458:44702:3915,LH00995:48:23YTGFLT4:6:2108:38101:9267,LH00995:48:23YTGFLT4:7:2281:18660:2387,LH00995:48:23YTGFLT4:8:1275:50236:13163,LH00995:48:23YTGFLT4:8:2121:34056:26586

CRYZL2P

SEC16B

-/-

chr1:178022440

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

low

|Sec23-binding_domain_of_Sec16(100%),Vesicle_coat_trafficking_protein_Sec16_mid-region(100%)

ENSG00000242193.11

ENSG00000120341.18

ENST00000476232.6

ENST00000528461.5

upstream

downstream

TTCAGTACTGCCAGCAAGGGTGCATCCAGCTATATGTCAGAATGGTTTTCAAGCTGGACGAG|GAAGATAAAATAAtTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTT

LH00995:48:23YTGFLT4:4:1186:50300:10220

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48621167

CDS/splice-site

deletion/read-through

371

low

in-frame

Adaptor_complexes_medium_subunit_family(99%)|Transcription_factor_IIA__alpha/beta_subunit(93%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000437125.5

downstream

upstream

CTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAGG

LGVESDVQPQKHVQQRACYNIQ|LWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSST

LH00995:48:23YTGFLT4:5:2252:48561:27245,LH00995:48:23YTGFLT4:6:2420:30715:1995,LH00995:48:23YTGFLT4:2:2350:40164:5918,LH00995:48:23YTGFLT4:7:2482:20748:1771

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48620851

CDS/splice-site

deletion/read-through

371

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)

TGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTT

CASRTEVRSLGVESDVQPQKHVQQRACYNIQ|PKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKV

LH00995:48:23YTGFLT4:2:1171:47024:13821,LH00995:48:23YTGFLT4:7:2372:51263:26404,LH00995:48:23YTGFLT4:5:2283:28304:4013,LH00995:48:23YTGFLT4:7:2379:33069:18543,LH00995:48:23YTGFLT4:7:2379:33077:18529

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48621167

CDS/splice-site

deletion/read-through

206

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

duplicates(1),mismatches(1)

GGATCAAGGCCCTTTGGACCATGAACCTCCAGAGGCAGAAGTCTCTGAAAGCTAAAATGAACCGCCGAGCATGTCTGGGGAGTTTACAGGAACTTGAATCTGAACCTGTCATTCAAGTCACTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGC...TCGTCAACAG___GATTCTAATTCTCAGGTGGATTTAAGCATTCGGGTTACTGATGATGATATTGGTGAAATAATTCAAGTAGATGGAAGCGGTGATACATCTTCCAATGAAGAAATAGGAAGTACAAGAGATGCAGATGAGAATGAATTTCTA

IKALWTMNLQRQKSLKAKMNRRACLGSLQELESEPVIQVTVGSAKYESAYQAVVWKIDRLPDKNS|tlgnqgfav*

LH00995:48:23YTGFLT4:4:1342:11153:25872,LH00995:48:23YTGFLT4:1:2477:36847:3816,LH00995:48:23YTGFLT4:2:1406:34396:13331,LH00995:48:23YTGFLT4:7:1447:11549:14452

ISY1

RAB43

-/-

chr3:129134074

chr3:129095169

CDS/splice-site

deletion/read-through

2702

2481

low

in-frame

Isy1-like_splicing_family(84%)|Ras_family(69%)

ENSG00000240682.10

ENSG00000172780.17

ENST00000393295.8

ENST00000393305.5

upstream

downstream

duplicates(4),low_entropy(1)

GCCTTTGGAACAGGAATATGAAAAGAAAC___TCAGAGCCGAGTTAGTGGAAAAGTGGAAAGCAGAGAGAGAGGCTCGGCTGGCAAGAGGAGAAAAGGAAGAGGAGGAGGAAGAGGAGGAAGAGATCAACATCTATGCAGTCACCGAGGAGGAG|CTGCAGATCTGGGACACGGCCGGCCAGGAGCGGTTCCGCACCATCACCCAGAGCTACTACCGCAGTGCCAATGGGGCCATCCTTGC

PLEQEYEKKLRAELVEKWKAEREARLARGEKEEEEEEEEEINIYAVTEEE|LQIWDTAGQERFRTITQSYYRSANGAIL

LH00995:48:23YTGFLT4:1:1167:15133:24779,LH00995:48:23YTGFLT4:1:2485:44411:11453,LH00995:48:23YTGFLT4:5:2178:34371:20071,LH00995:48:23YTGFLT4:6:2176:18021:15433,LH00995:48:23YTGFLT4:7:2161:7221:25283,LH00995:48:23YTGFLT4:8:1229:10433:1729,LH00995:48:23YTGFLT4:4:1334:26435:9716,LH00995:48:23YTGFLT4:4:2263:12908:19833,LH00995:48:23YTGFLT4:6:2239:4632:19034

ISY1

RAB43

-/-

chr3:129130550

chr3:129095169

CDS/splice-site

deletion/read-through

3369

2481

low

in-frame

Isy1-like_splicing_family(94%)|Ras_family(69%)

ENSG00000240682.10

ENSG00000172780.17

ENST00000393295.8

ENST00000393305.5

upstream

downstream

duplicates(2),read_through(3)

GACGAGGAAGGCAGCCAGGAGAAgGGAGGGGACGACAGCCAGCAGAAGTTCATTGCTCACGTCCCTGTTCCCTCGCAGCAAGAG|CTGCAGATCTGGGACACGGCCGGCCAGGAGCGGTTCCGCACCATCACCCAGAGCTACTACCGC

DEEGSQEKGGDDSQQKFIAHVPVPSQQE|LQIWDTAGQERFRTITQSYY

LH00995:48:23YTGFLT4:8:1467:19688:16750,LH00995:48:23YTGFLT4:2:1169:42793:11537,LH00995:48:23YTGFLT4:2:2301:49297:26222,LH00995:48:23YTGFLT4:7:2321:27851:16540,LH00995:48:23YTGFLT4:7:2448:5911:23630

TUSC3

PPM1AP1(27093),AC018437.2(61891)

+/+

./+

chr8:15748465

chr8:15834376

CDS/splice-site

intergenic

deletion/read-through

3114

low

out-of-frame

OST3_/_OST6_family__transporter_family(100%)|

ENSG00000104723.21

ENST00000382020.8

downstream

upstream

duplicates(3)

CATTATTCTGGTACTGA___ATGCCGCTATCACCATGGGGATGGTTCTTCTAAATGAAGCAGCAACTTCGAAAGGCGATGTTGGAAAAAGACGGA___TAATTTGCCTAGTGGGATTGGGCCTGGTGGTCTTCTTCTTCAGTTTTCTACTTTCAATATTTCGTTCCAAGTACCACGGCTATCCTTATAG|TTCTGCCAGAACAAATCTGTAGTGACCATAGCGGATACCTTTGTTCTCTTTCTGCCTCCGTGGGAAG___GACTCACTATAGGAGGGTACTGGATGCATCCTCTTCCTTCCCCGTGCC

IILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGYPYs|sartnl*

LH00995:48:23YTGFLT4:4:2178:12876:7446,LH00995:48:23YTGFLT4:8:1475:27915:23181,LH00995:48:23YTGFLT4:8:1475:27932:23181,LH00995:48:23YTGFLT4:8:1491:37243:10472,LH00995:48:23YTGFLT4:8:1491:37251:10486,LH00995:48:23YTGFLT4:1:1129:50042:8006,LH00995:48:23YTGFLT4:5:1335:41749:4153

LRTOMT

AP000812.3

+/+

chr11:72095096

chr11:72107923

CDS/splice-site

deletion/read-through

991

low

out-of-frame

Leucine-rich_repeat(78%),Leucine_rich_repeat(100%)|O-methyltransferase(96%)

ENSG00000184154.15

ENSG00000284844.1

ENST00000289488.7

ENST00000541899.2

downstream

upstream

duplicates(7)

CTCGGCTCCGTAGCCTGACACTCCATGGGAACCCCATGGAGGAAGAGAAAGGGTATAG|GTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCCCCTGGGGGTCGCCTTCTTACTGTGGAG

RLRSLTLHGNPMEEEKGYr|sdpdaagggegpclcagignllwilypaycpspapwgspsycg

LH00995:48:23YTGFLT4:4:2192:41029:1084,LH00995:48:23YTGFLT4:4:2245:44006:2121,LH00995:48:23YTGFLT4:1:1124:13993:23784,LH00995:48:23YTGFLT4:1:1309:8435:3620,LH00995:48:23YTGFLT4:1:1309:8451:3620,LH00995:48:23YTGFLT4:1:1364:28522:10865,LH00995:48:23YTGFLT4:1:2376:40212:15419,LH00995:48:23YTGFLT4:2:1335:48068:5288,LH00995:48:23YTGFLT4:2:2251:49200:18067,LH00995:48:23YTGFLT4:3:1136:48958:10500,LH00995:48:23YTGFLT4:7:2104:33918:7123

LRTOMT

AP000812.3

+/+

chr11:72095096

chr11:72108605

CDS/splice-site

deletion/read-through

991

low

out-of-frame

Leucine-rich_repeat(78%),Leucine_rich_repeat(100%)|O-methyltransferase(46%)

ENSG00000184154.15

ENSG00000284844.1

ENST00000289488.7

ENST00000541899.2

downstream

upstream

duplicates(4)

GCGCCTGGGGGAGGTGAATAAGCTGGCTGTCCTTCCTCGGCTCCGTAGCCTGACACTCCATGGGAACCCCATGGAGGAAGAGAAAGGGTATAG|GTGGAGCTCATCGTGGGCAGCTCAGAGGACGTGATCCCGTGCCTACGCACCCAGTATCAGCTGAGTCGGGCAGACCTGGTGCTCCTGGCACACCGGCCACGATGTTACCTGAGGGACCTGCAGCTGCTGGAGGCCCATGCCC

RLGEVNKLAVLPRLRSLTLHGNPMEEEKGYr|wssswaaqrt*

LH00995:48:23YTGFLT4:1:2288:9575:16890,LH00995:48:23YTGFLT4:3:2160:50349:8903,LH00995:48:23YTGFLT4:6:1219:11679:26026,LH00995:48:23YTGFLT4:6:1219:11687:26012,LH00995:48:23YTGFLT4:8:1455:24825:23798,LH00995:48:23YTGFLT4:4:2135:33918:6451

GSE1

SET

+/+

chr16:85312779

chr9:128694649

intron

CDS

translocation

11817

low

ENSG00000131149.19

ENSG00000119335.17

ENST00000372692.8

downstream

upstream

duplicates(2),mismatches(3)

GGGGGAGGAAGGAGAGGAGGAtGA|AGGAGAAGATGACTAAATAGAACACTGATGGATTCCAACCTTCCTTTTTTTAAATTTTCTCCAGTCCCTGGGAGCAAGTTGCAGTCTTTTTTTTTTTTTTTTTTTTTTTTCCCTCTTGTGCTCAGTCGCCCTGTTCTTG

LH00995:48:23YTGFLT4:1:1477:34865:22691,LH00995:48:23YTGFLT4:2:2226:16549:1813,LH00995:48:23YTGFLT4:2:2496:25359:25339,LH00995:48:23YTGFLT4:3:1230:41102:8861,LH00995:48:23YTGFLT4:3:2430:14292:8188,LH00995:48:23YTGFLT4:3:2437:8888:1743,LH00995:48:23YTGFLT4:4:2293:27430:8441,LH00995:48:23YTGFLT4:5:1202:31912:25479,LH00995:48:23YTGFLT4:8:1246:31313:3144

ODAM

FDCSP

+/+

chr4:70203214

chr4:70231195

3'UTR/splice-site

CDS/splice-site

deletion/read-through

4350

low

stop-codon

Odontogenic_ameloblast-associated_family(100%)|Follicular_dendritic_cell_secreted_peptide(100%)

ENSG00000109205.16

ENSG00000181617.6

ENST00000396094.6

ENST00000317987.6

downstream

upstream

duplicates(1)

CTCAACTTCACCAAAACCCAGCACAACCAATGTTTTCACTTCTGCTGTAGACCAAACTATTACCCCAGAGCTCCCAGAAGAGAAG___GACAAGACTGACAGCCTAAGGGAACCATAAGAAGTTGCCCTGATCATTCAGACATTTTG|ATGAAGAAAGTTCTCCTCCTGATCACAGCCATCTTGGCAGTGGCTGTTGGTTTCCCA___GTCTCTCAAGACCAGGAACGAGAAAAAAGAAGT___ATCAGTGACAGCGATGAATTAGCTTCAGGGTTTTTTGTGTTCCCTTACCCATATCCATTTCGCCCACTTCCACCAATTCCATTTCCAAGATTTCCATGGTTTAGACGTAATTTTCCTATTCCAATACCTGAATCTGCCCC

LH00995:48:23YTGFLT4:7:1326:40423:26572,LH00995:48:23YTGFLT4:7:1326:40439:26572,LH00995:48:23YTGFLT4:5:2154:42445:8525,LH00995:48:23YTGFLT4:5:2223:12512:26096,LH00995:48:23YTGFLT4:7:1219:24162:1294

ANKLE2

-/-

chr12:132735406

chr12:132755133

CDS/splice-site

duplication/non-canonical_splicing

1122

2548

low

out-of-frame

Caulimovirus_viroplasmin(100%),LEM_domain(100%)|Caulimovirus_viroplasmin(100%),LEM_domain(100%)

ENSG00000176915.15

ENST00000357997.10

upstream

downstream

TCCACCTCGAGAGAAAGCAGGCTTCCTTCACCACGTCAAGAAGTCGGACCCGGAAAGAGGCTTTGAGAGAGTGGGAAG|GTGAAATGACAATGGATGCTCTGTTGGCTCGATTGAAACTTCTGAATCCAGATGACCTTAGAGAAGAAATCGTCAAAGCCGGATTGAAATGTGGACCCATTACATCAACTACAAGGTTCATTTTTGAGAAAAAATTGGCTCAGGCTTTACTGGAGCAAGGAGGAAGGCTGTCTTCTTTCTAC

PPREKAGFLHHVKKSDPERGFERVGr|*

LH00995:48:23YTGFLT4:1:1346:33967:20295,LH00995:48:23YTGFLT4:1:2230:10765:21836,LH00995:48:23YTGFLT4:5:1328:45657:15853,LH00995:48:23YTGFLT4:7:1302:33886:5694

E2F1

-/-

chr20:33677105

chr20:33680416

CDS/splice-site

duplication/non-canonical_splicing

1484

837

low

out-of-frame

E2F/DP_family_winged-helix_DNA-binding_domain(100%),E2F_transcription_factor_CC-MB_domain(100%)|E2F/DP_family_winged-helix_DNA-binding_domain(100%),E2F_transcription_factor_CC-MB_domain(100%)

ENSG00000101412.13

ENST00000343380.6

upstream

downstream

duplicates(3)

CCCCCTCATCCCTCACCACAGATCCCAGCCAGTCTCTACTCAGCCTGGAGCAAG|GTGAAGCGGAGGCTGGACCTGGAAACTGACCATCAGTACCTGGCCGAGAGCAGTGGGCCAGCTCGGGGCAGAGGCCGCCATCCAGGAAAAG___GTGTGAAATCCCCGGGGGAGAAGTCACGCTATGAGACCTCACTGAATCTGACC

PSSLTTDPSQSLLSLEQ|geaeagpgn*

LH00995:48:23YTGFLT4:1:2132:40228:8272,LH00995:48:23YTGFLT4:6:2316:39589:6381,LH00995:48:23YTGFLT4:2:1431:1963:9197,LH00995:48:23YTGFLT4:3:1313:37065:11285,LH00995:48:23YTGFLT4:4:1230:27017:8847,LH00995:48:23YTGFLT4:4:2405:39306:27749,LH00995:48:23YTGFLT4:7:2464:44508:29305

AC092807.3

DDAH1

-/-

chr1:85496166

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

184

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(1)

GTGCAAATGTTTATGG___TTTCATCTGTATGGAAAAGGAGCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATgCAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAA

LH00995:48:23YTGFLT4:5:2497:47809:3494,LH00995:48:23YTGFLT4:8:1417:38319:28730,LH00995:48:23YTGFLT4:8:1483:32033:25437,LH00995:48:23YTGFLT4:8:1483:32049:25437

SIX4

SIX1

-/-

chr14:60723212

chr14:60646577

CDS/splice-site

deletion/read-through

3861

4055

low

in-frame

Homeodomain(100%),Transcriptional_regulator__SIX1__N-terminal_SD_domain(100%)|

ENSG00000100625.9

ENSG00000126778.12

ENST00000216513.5

ENST00000554986.2

upstream

downstream

duplicates(3)

GGAGAAGTCGCGCAACGCGCTCAAGGAGCTCTACAAGCAGAATCGCTACCCTTCGCCCGCCGAGAAGCGGCACCTGGCCAAGATCACCGGCCTCTCCCTCACCCAGGTCAGCAACTGGTTCAAGAACCGCCGGCAGCGCGACAGGAACCCCTCCGAGACCCAGTCCAAAAG|GGAGAACACCGAAAACAATAACTCCTCCTCCAACAAGCAGAACCAACTCTCTCCTCTGGAAGGGGGCAAGCCGCTCATGTCCAGCTCAGAAGAGGAATTC

EKSRNALKELYKQNRYPSPAEKRHLAKITGLSLTQVSNWFKNRRQRDRNPSETQSKr|ENTENNNSSSNKQNQLSPLEGGKPLMSSSEEE

LH00995:48:23YTGFLT4:3:2383:42591:8917,LH00995:48:23YTGFLT4:7:2177:2149:29053,LH00995:48:23YTGFLT4:1:1433:7221:25956,LH00995:48:23YTGFLT4:3:1216:5061:27707,LH00995:48:23YTGFLT4:4:1174:36030:10416,LH00995:48:23YTGFLT4:4:1492:38813:3859

SIX4

SIX1

-/-

chr14:60719760

chr14:60646577

CDS/splice-site

deletion/read-through

1370

4055

low

out-of-frame

Homeodomain(100%),Transcriptional_regulator__SIX1__N-terminal_SD_domain(100%)|

ENSG00000100625.9

ENSG00000126778.12

ENST00000216513.5

ENST00000554986.2

upstream

downstream

duplicates(2)

GAGCATTGGATTCTCTCCACTGCAGCTGCCCCCTGTGTCAGTGGCAGCTTCACAAG|GGAGAACACCGAAAACAATAACTCCTCCTCCAACAAGCAGAACCAACTCTCTCCTCTGGAAGGGGGCAAGCCGCTCATGTCCAGCT

SIGFSPLQLPPVSVAASQ|grtpktitppptsrtnsllwkgasrscp

LH00995:48:23YTGFLT4:1:1415:22066:5652,LH00995:48:23YTGFLT4:1:2117:7658:20855,LH00995:48:23YTGFLT4:7:2322:15263:11579,LH00995:48:23YTGFLT4:8:1151:11776:26138

ADAM32

ADAM5

+/+

chr8:39257343

chr8:39322561

CDS/splice-site

exon/splice-site

deletion/read-through

808

low

out-of-frame

ADAM_cysteine-rich(100%),Disintegrin(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%)|

ENSG00000197140.15

ENSG00000196115.13

ENST00000437682.6

ENST00000399789.6

downstream

upstream

duplicates(2)

TTCCATATTTCCTGAGGAAGATATGG___GTTCAATCATGGAAAGAGCATCTGGGAAGACTGAAAACACCTGGCTTCTAGGTTTCC?CATTGCTCTTCCTATTCTCATTGTAACAACCGCAATAGTTTTGGCAAGGAAACAGTTGAAAAAGTGGTTCGCCAAGGAAGAGGAATTCCCAAGTAGCGA|ATCAATTTTATCTTCAGCTTCTGTTATTAATTCTTATGACGAAAATGACATCCGTCATTCCAAACCTCTGCTAGTTCAG___ATGGATTGCAATTATAATGGATATGTTGCGGGTATTCCAAATTCTCTTGTGACTCTCAGC

SIFPEEDMGSIMERASGKTENTWLLGF?IALPILIVTTAIVLARKQLKKWFAKEEEFPSSe|silssasvinsydendirhskpllvqmdcnyngyvagipnslvtl

LH00995:48:23YTGFLT4:2:1272:33336:19510,LH00995:48:23YTGFLT4:2:1272:33344:19496,LH00995:48:23YTGFLT4:5:1314:34258:4181,LH00995:48:23YTGFLT4:7:1128:45341:4153,LH00995:48:23YTGFLT4:7:2424:47987:10893

TRIM59

IFT80

-/-

chr3:160438232

chr3:160384646

CDS/splice-site

5'UTR/splice-site

deletion/read-through

526

377

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(4)

GTTCAACCCGTTGAAATTTATCCTCGAGTAAGCAAAATATTGAAAGAAGAATGGAGCAGAACAGAAATTGGACAAATTAAGAACGTTCTCATTCCCAAAATGAAAATTTCTCCAAAAAGGATGTCATGTTCCTGGCCTG|TAAATACAATCAAGTGGCATCTTAAATTTTTGCTGGAAGTGGAGTCATGAGACTAAAGATATCTCTTTTAAAA

VQPVEIYPRVSKILKEEWSRTEIGQIKNVLIPKMKISPKRMSCSWP|vntikwhlkflleves*

LH00995:48:23YTGFLT4:1:1368:19089:6100,LH00995:48:23YTGFLT4:1:1390:15999:10416,LH00995:48:23YTGFLT4:1:1492:8629:20239,LH00995:48:23YTGFLT4:2:1151:12836:4013,LH00995:48:23YTGFLT4:2:2126:34816:14312,LH00995:48:23YTGFLT4:2:2298:1704:22537,LH00995:48:23YTGFLT4:6:1351:51902:13331

TRIM59

IFT80

-/-

chr3:160438232

chr3:160377540

CDS/splice-site

deletion/read-through

526

541

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

GGACAAATTAAGAACGTTCTCATTCCCAAAATGAAAATTTCTCCAAAAAGGATGTCATGTTCCTGGCCTG|GTAAATTTCATCTGATTTCCAAGTTAGGAAGAGTGGAAAAAAGTGTAGAAGCTCACTGTGGAGCAGTACTTGCAGGAAGATGGAATTATGAAGGAACAGCATTAGTTACAG___TTGGAGAAGATGGACAAATAAAAATTTGGTCAAAGACTGG

GQIKNVLIPKMKISPKRMSCSWP|gKFHLISKLGRVEKSVEAHCGAVLAGRWNYEGTALVTVGEDGQIKIWSKT

LH00995:48:23YTGFLT4:5:2150:6218:24947,LH00995:48:23YTGFLT4:6:1281:39573:18151

TRIM59

IFT80

-/-

chr3:160438232

chr3:160391643

CDS/splice-site

5'UTR/splice-site

deletion/read-through

526

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

ENST00000487943.5

upstream

downstream

AGCAGAACAGAAATTGGACAAATTAAGAACGTTCTCATTCCCAAAATGAAAATTTCTCCAAAAAGGATGTCATGTTCCTGGCCTG|GCTGGAGTGCAGTGGTGTGATCTCGGTTTACTGCAACCTCCACCTCCTGAGTTCCAGCGATTCTCCT

SRTEIGQIKNVLIPKMKISPKRMSCSWP|gwsavv*

LH00995:48:23YTGFLT4:1:1387:35075:15180,LH00995:48:23YTGFLT4:2:2254:7084:23448

TRIM59

IFT80

-/-

chr3:160438232

chr3:160319939

CDS/splice-site

deletion/read-through

526

789

low

out-of-frame

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

ENSG00000213186.8

ENSG00000068885.15

ENST00000543469.1

ENST00000326448.12

upstream

downstream

duplicates(1)

AGTCTCCACTTAAATTTCTTGAAAAAGTTGATGATGTACGCCAGCATGTACAGATCTTGAAACAAAGACCACTTCCTGAGGTTCAACCCGTTGAAATTTATCCTCGAGTAAGCAAAATATTGAAAGAAGAATGGAGCAGAACAGAAATTGGACAAATTAAGAACGTTCTCATTCCCAAAATGAAAATTTCTCCAAAAAGGATGTCATGTTCCTGGCCTG|TGGTCATATGCATTAGAAAAACC

SPLKFLEKVDDVRQHVQILKQRPLPEVQPVEIYPRVSKILKEEWSRTEIGQIKNVLIPKMKISPKRMSCSWP|vvicirk

LH00995:48:23YTGFLT4:3:1472:43351:29571,LH00995:48:23YTGFLT4:3:2330:6008:8889

NDUFC2

KCTD14

-/-

chr11:78072998

chr11:78017270

CDS/splice-site

deletion/read-through

4675

440

low

out-of-frame

NADH-ubiquinone_oxidoreductase_subunit_b14.5b_(NDUFC2)(82%)|BTB/POZ_domain(100%)

ENSG00000151366.13

ENSG00000151364.17

ENST00000281031.5

ENST00000533144.1

upstream

downstream

AAAACGTGAAGACTACCTGTATGCTGTGAGGGACCGTGAAATGTTTGGATATATGAAATTACATCCAGAGGATTTTCCTGAAGAAG|ATGTCTACTGTTGTGGAGCTGAACGTCGGGGGTGAGTTCCACACCACCACCCTGGGTACC?TGAGGAAGTTTCCGGGCTCAAAGCTGGCAGAGATGTTCTCTAGCTTAGCCAAGGCCTCCACGGACGCGGAGGGCCGCTTCTTCATCGACCGCCCCAGCACCTA

KREDYLYAVRDREMFGYMKLHPEDFPEE|dvyccgaerrg*

LH00995:48:23YTGFLT4:6:2482:28368:8805,LH00995:48:23YTGFLT4:2:2198:30448:17871,LH00995:48:23YTGFLT4:5:2273:21783:19566

NDUFC2

KCTD14

-/-

chr11:78072998

chr11:78038758

CDS/splice-site

5'UTR/splice-site

deletion/read-through

4675

low

out-of-frame

NADH-ubiquinone_oxidoreductase_subunit_b14.5b_(NDUFC2)(82%)|BTB/POZ_domain(100%)

ENSG00000151366.13

ENSG00000151364.17

ENST00000281031.5

ENST00000533144.1

upstream

downstream

duplicates(4)

GGACCGTGAAATGTTTGGATATATGAAATTACATCCAGAGGATTTTCCTGAAGAAG|GGGGTGACATTGGCCTCTGTTGCTTGTCCCCAGGATCCCTCTCTGACACCCC

DREMFGYMKLHPEDFPEE|ggdiglcclspgslsdt

LH00995:48:23YTGFLT4:4:1438:51773:24905,LH00995:48:23YTGFLT4:4:2314:12188:18193,LH00995:48:23YTGFLT4:5:1322:27835:12924,LH00995:48:23YTGFLT4:6:1432:1291:29277,LH00995:48:23YTGFLT4:8:1449:24825:23742,LH00995:48:23YTGFLT4:8:1449:24841:23742,LH00995:48:23YTGFLT4:5:2273:21783:19566

PSMD10P2

PSMD10P1

+/+

chr3:186761661

chr20:50914283

exon

translocation

low

ENSG00000226652.3

ENSG00000228663.1

ENST00000626135.2

ENST00000436861.1

downstream

upstream

CACTCCTCTACACTTAGCCTGTGATGAGGAGAGAGTGGAAGAAG|CAAAACTGCTGGTGTCCCAAGGAGCAA

LH00995:48:23YTGFLT4:5:2358:31499:17198,LH00995:48:23YTGFLT4:6:1412:30537:9730,LH00995:48:23YTGFLT4:7:1249:38513:1546

AL137792.1

AL360081.1

-/-

+/+

chr1:28120979

chr9:98235355

exon

translocation

low

ENSG00000214812.3

ENSG00000224001.2

ENST00000399029.3

ENST00000428299.2

upstream

mismatches(1)

AGgAGTCAATGCTATTGTTTACATGAtAGATGCTGCAGATCGTGAAAAGATAGAAGCTTCCCGAAATGAGCTACATAATCTTCTA|GATAAACCACAGTTACAAGGAATTCCAGTGCTAGTACTTGG

LH00995:48:23YTGFLT4:2:1472:12520:12686,LH00995:48:23YTGFLT4:3:2191:51530:6661,LH00995:48:23YTGFLT4:8:1212:10651:27385,LH00995:48:23YTGFLT4:8:1311:22673:8216

AL512590.2

CCDC180

+/+

chr9:97294991

chr9:97307736

exon/splice-site

5'UTR/splice-site

deletion/read-through

low

|Domain_of_unknown_function_(DUF4455)(100%),Domain_of_unknown_function_(DUF4456)(100%)

ENSG00000254633.2

ENSG00000197816.16

ENST00000531758.2

ENST00000460482.6

downstream

upstream

GCCACATCCTGATCACAAATCACAGGGAGAAGAAGCTGCAGCAGAGCACCAAATACTGGTGCCTAAATCAATCGGCAG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAGGCTGAG___GTGCAGCTGGTCCACTCCCTGGC

LH00995:48:23YTGFLT4:6:1283:43440:22607,LH00995:48:23YTGFLT4:1:1204:6614:21626,LH00995:48:23YTGFLT4:7:2180:18636:5512

AL512590.2

CCDC180

+/+

chr9:97294110

chr9:97307736

exon/splice-site

5'UTR/splice-site

deletion/read-through

low

|Domain_of_unknown_function_(DUF4455)(100%),Domain_of_unknown_function_(DUF4456)(100%)

ENSG00000254633.2

ENSG00000197816.16

ENST00000531758.2

ENST00000460482.6

downstream

upstream

CTCCTCGGCATGTGGCTGATTGCCCGCATCGACAGGACCATCATGCAGAGTGGCTATGAGGGAGCAGACATGG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTC

LH00995:48:23YTGFLT4:1:1494:5555:29207

DNAJC25

GNG10

+/+

chr9:111631743

chr9:111666815

CDS/splice-site

deletion/read-through

714

3066

low

in-frame

DnaJ_domain(87%)|GGL_domain(67%)

ENSG00000059769.20

ENSG00000242616.4

ENST00000313525.4

ENST00000374293.5

downstream

upstream

duplicates(2)

GCCAGCTGGCCCGGCGCTACCACCCTGACCGCTACCGGCCCCAGCCCGGAGACGAGGGCCCCGGGCGGACGCCGCAGAGCGCCGAGGAGGCTTTCCTGCTGGTGGCAACCGCCTACGAGACACTCAAG|GTCTCTCAGGCAGCTGCAGAGCTTCAACAGTACTGTATGCAGAATGCCTGCAAGGATGCCCTGCTGGTGGGTGTTCCAGCTGGAAGTAACCCCTTCCGGGAGCCTAGATCCTGTGCTTTACTCT

QLARRYHPDRYRPQPGDEGPGRTPQSAEEAFLLVATAYETLK|VSQAAAELQQYCMQNACKDALLVGVPAGSNPFREPRSCALL

LH00995:48:23YTGFLT4:4:1124:15667:25620,LH00995:48:23YTGFLT4:4:1263:27479:8777,LH00995:48:23YTGFLT4:6:2139:41563:16554,LH00995:48:23YTGFLT4:7:2116:17981:21332,LH00995:48:23YTGFLT4:4:2441:13693:14606

MINDY4

+/+

chr7:30859324

chr7:30778432

CDS/splice-site

duplication/non-canonical_splicing

324

356

low

out-of-frame

Deubiquitinating_enzyme_MINDY-3/4__conserved_domain(49%)|Deubiquitinating_enzyme_MINDY-3/4__conserved_domain(100%)

ENSG00000106125.14

ENST00000265299.6

downstream

upstream

duplicates(1)

TTTCTTCAACAAAGCATTCATCAG___TTTGAAGTGGGCCCCTATGGCTGCATCCTGCTCACCCTTTCTGCCATCCTGTCCAGGTCTACAGAGCT|GGCTTAAAGAAGACATGTGTGACCATGGACCAGGAACGCCCACGCTCTGACCTCAGCATAAACAACAGAAATGATCTTCGAAAGGTTTTGCATCTTGAATTTCTCTATAAGGAGAACAAGG

FLQQSIHQFEVGPYGCILLTLSAILSRSTEl|a*

LH00995:48:23YTGFLT4:5:2456:38894:27063,LH00995:48:23YTGFLT4:8:1492:18944:12714,LH00995:48:23YTGFLT4:8:1492:18952:12700,LH00995:48:23YTGFLT4:8:2110:16420:27876

GOLGA2

ENTPD4

-/-

chr9:128258854

chr8:23457584

exon

5'UTR

translocation

614

low

Putative_golgin_subfamily_A_member_2-like_protein_5(60%)|GDA1/CD39_(nucleoside_phosphatase)_family(100%)

ENSG00000167110.18

ENSG00000197217.13

ENST00000496221.1

ENST00000356206.10

upstream

downstream

duplicates(1),mismatches(3)

CACTAAGTTCGGCATCAATATGGTGAC|CTCCCGGGGTCCCCGGCCGGCCAAGCAG___GAGGGCTCTAACTCCGTGAGGACCCCAGCATTATTTCTATAATTGTTTGTGAGAAGGACTGAAT...___GCATTTCAGAATTTGCTACCTCTCCAGAGAAAGTCAGTGATTACATTTCTCCACTTTTGAACTTTGCT

LH00995:48:23YTGFLT4:1:2152:11881:23069,LH00995:48:23YTGFLT4:1:2312:20877:13737,LH00995:48:23YTGFLT4:2:1361:30496:19328,LH00995:48:23YTGFLT4:3:1216:28077:29263,LH00995:48:23YTGFLT4:3:1216:28085:29249,LH00995:48:23YTGFLT4:3:1438:10902:23476,LH00995:48:23YTGFLT4:8:2119:40568:13345

EIF3C

NPIPB11

+/+

-/-

chr16:28735582

chr16:29404081

3'UTR

intergenic

inversion

1740

low

stop-codon

Eukaryotic_translation_initiation_factor_3_subunit_8_N-terminus(100%),PCI_domain(100%)|Nuclear_pore_complex_interacting_protein_(NPIP)(100%)

ENSG00000184110.15

ENSG00000254206.5

ENST00000566501.5

ENST00000524087.5

downstream

duplicates(1)

TACCGCCAGCAGCAGTCTCAGACGGCCTACTGAGCTCTCCACTCTGTTTCCCGCCTGGGCCATCCAACCTTGAAGTCCTAAACCACACCTCAGTCACTAAAG|GTATGATCTCGTGAAACCTTGAGAGAAACTGAATGACGAATGAAACTATTGTTCCTGTTTCACACAGAAGAAAACTGAGGTTAAAAGGG___GTTGGCACTCATgATGAGCCCCTGTTCTCATTCTGCAAATGGTGAAGCTCTCTATTGTCCTGACCCCACAGTTCCTGTCgCATGACCAG

LH00995:48:23YTGFLT4:2:1344:12269:28646,LH00995:48:23YTGFLT4:3:2190:33942:6689,LH00995:48:23YTGFLT4:4:2232:38335:28534,LH00995:48:23YTGFLT4:6:2268:46781:20071

CACNA1C

CACNA1C-AS4

+/+

-/-

chr12:2120430

chr12:2221695

CDS/splice-site

exon/splice-site

inversion

706

low

out-of-frame

Ion_transport_protein(3%)|

ENSG00000151067.22

ENSG00000256025.2

ENST00000399655.6

ENST00000669813.1

downstream

duplicates(1)

GAAGCGGCAGCAATATGGGAAACCCAAGAAGCAGGGCAGCACCACGGCCACACGCCCGCCCCGAGCCCTGCTCTGCCTGACCCTGAAGAACCCCATCCGGAGGGCCTGCATCAGCATTGTCGAATGGAA___ACCATTTGAAATAATTATTTTACTGACTATTTTTGCCAATTGTGTGGCCTTAGCGATCTATATTCCCTTTCCAGAAGATGATTCCAACGCCACCAATTCCAACCTG|GATAAAATCCTATGGACTTGCTGAACCAAAAGAAATGAGCATTTTGAAGCCTTTGAACATTTTGTCAAATGACCCTCCAAG

KRQQYGKPKKQGSTTATRPPRALLCLTLKNPIRRACISIVEWKPFEIIILLTIFANCVALAIYIPFPEDDSNATNSNL|dkilwtc*

LH00995:48:23YTGFLT4:1:1131:8459:4727,LH00995:48:23YTGFLT4:6:1294:22398:24975,LH00995:48:23YTGFLT4:6:1294:22414:24975,LH00995:48:23YTGFLT4:7:2278:24194:10879

TUBAP12

TUBAP2

-/-

+/+

chr15:96388333

chr11:90283775

exon

translocation

2055

low

ENSG00000259614.2

ENSG00000214391.3

ENST00000559595.2

ENST00000530835.1

upstream

duplicates(10),mismappers(2),mismatches(8)

GGAGACCTGGCCAAGGTACAGAGAGCTGTG|CATGCTGAGCAACACCACAGCCATTGCTGAGGCCTGGGCTCGCCTGGACCACAAGTTTGACCTGATGTATGCCAAGCGTGCCTTTGTTCACTGGTACGTGGGTGAGGGGATGGAGGAAGGCG

LH00995:48:23YTGFLT4:1:1313:7432:18978,LH00995:48:23YTGFLT4:1:1335:39436:21836,LH00995:48:23YTGFLT4:1:1347:43553:17338,LH00995:48:23YTGFLT4:1:1457:11735:8973,LH00995:48:23YTGFLT4:1:2269:14025:3718,LH00995:48:23YTGFLT4:2:1202:8330:6885,LH00995:48:23YTGFLT4:2:1451:9406:26208,LH00995:48:23YTGFLT4:2:2372:47898:18978,LH00995:48:23YTGFLT4:3:1123:16201:29403,LH00995:48:23YTGFLT4:3:2236:28894:3382,LH00995:48:23YTGFLT4:4:1354:6064:23812,LH00995:48:23YTGFLT4:4:1355:5684:6395,LH00995:48:23YTGFLT4:4:2121:43699:23252,LH00995:48:23YTGFLT4:4:2474:36280:29263,LH00995:48:23YTGFLT4:4:2476:42356:11846,LH00995:48:23YTGFLT4:5:1458:7707:1631,LH00995:48:23YTGFLT4:5:1459:13442:11705,LH00995:48:23YTGFLT4:5:1465:33441:12910,LH00995:48:23YTGFLT4:5:2370:26597:13415,LH00995:48:23YTGFLT4:6:2347:4293:12812,LH00995:48:23YTGFLT4:7:2443:43853:1771,LH00995:48:23YTGFLT4:8:1280:31944:17913

FLACC1

FLACC1(6775),TRAK2(13034)

-/-

./-

chr2:201342370

chr2:201364173

CDS/splice-site

intergenic

duplication

low

out-of-frame

ENSG00000155749.13

ENST00000392257.8

upstream

downstream

GAACAAATGAACAGAGACCACCAGTCTGCCCAGAAATTG___CTCTCCAGTGAAATGGATCTCCGCTGTGCTGAGATGAAACAGAACTTTGAAAACAAGAACAG|GTTTTATACTGGGCTGTGCAGTTCAACCTACAAACCAGTAGATGGTGCTAATAG

EQMNRDHQSAQKLLSSEMDLRCAEMKQNFENKNr|fytglcsstykpvdgan

LH00995:48:23YTGFLT4:6:2195:41555:12560,LH00995:48:23YTGFLT4:8:1270:14745:18473

MID1

AC073529.1

-/-

chrX:10523092

chrX:11110981

CDS/splice-site

exon

duplication

1712

low

out-of-frame

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

ENSG00000101871.16

ENSG00000234129.8

ENST00000380787.5

ENST00000669054.1

upstream

downstream

ACCTCACCAACCTTATTAAGAGGAACACAGAACTGGAGACCCTTTTGGCTAAACTCATCCAAACCTGTCAACATGTTGAA|CAATGATTCAAGAAACGTTAGTAGGTGCCCATAACTTCGGTGGTGGAGATCCAAA

LTNLIKRNTELETLLAKLIQTCQHVE|q*

LH00995:48:23YTGFLT4:6:1120:48294:24232

AC073529.1

MID1

-/-

chrX:11038603

chrX:10523187

exon/splice-site

CDS/splice-site

deletion

1669

low

|Fibronectin_type_III_domain(100%),SPRY-associated_domain(100%),SPRY_domain(100%),TRIM_C-terminal_subgroup_One_Signature_domain(100%)

ENSG00000234129.8

ENSG00000101871.16

ENST00000669054.1

ENST00000380787.5

upstream

downstream

duplicates(3)

TTCCTGAGGCCTTCCCAGAAGTAGAAGCCTGtACAGTCCACAGAACT|CAAAACTTAGAGAGTAACCTCACCAACCTTATTAAGAGGAACACAGAACTGGAGACCCTTTTGGCTAAACTCATCCAAACCTGTCAACATGTTGAA___GTCAATGCATCACGTCAAGAAGCCAAATTGACAGAGGAGTGTGATCTTCTCATTGAGATCATTCAGCA

LH00995:48:23YTGFLT4:3:1127:28708:17913,LH00995:48:23YTGFLT4:4:2280:15441:22004,LH00995:48:23YTGFLT4:6:1133:47056:14158,LH00995:48:23YTGFLT4:6:2382:28271:12588

ZMYM2

ZMYM5

+/+

-/-

chr13:20003135

chr13:19852190

CDS/splice-site

5'UTR/splice-site

inversion

5664

702

low

in-frame

MYM-type_Zinc_finger_with_FCS_sequence_motif(15%)|MYM-type_Zinc_finger_with_FCS_sequence_motif(100%)

ENSG00000121741.17

ENSG00000132950.19

ENST00000382874.6

ENST00000337963.9

downstream

CACAAGCCTGCTCCAAAGAAACTCTGTGTTATGTGTAAAAA|GTTCATTGGCATGGAAAAATGTTCAGTGGGAGGATTAGAGTTGACTGAACAGACTCCTGCTTTATTAGGGAATATGGCCATGGCAACTAGTCTCATGGACATAGGGGATTCATTTGGTCATCCAGCTTGTCCTTTAGTCAGTAGATCTAGGAACTCACCAGTGGAAG

HKPAPKKLCVMCKk|figMEKCSVGGLELTEQTPALLGNMAMATSLMDIGDSFGHPACPLVSRSRNSPVE

LH00995:48:23YTGFLT4:3:1203:42073:17520

ZMYM2

ZMYM5

+/+

-/-

chr13:20067390

chr13:19838985

CDS/splice-site

inversion

5223

331

low

out-of-frame

MYM-type_Zinc_finger_with_FCS_sequence_motif(100%)|MYM-type_Zinc_finger_with_FCS_sequence_motif(100%)

ENSG00000121741.17

ENSG00000132950.19

ENST00000382874.6

ENST00000337963.9

downstream

duplicates(2),mismappers(2)

CAAAACTAGGCAACTTGATGAAGATCTTCTGGTATTAGATGAGTTAAAATCTT___CTAAATCAGTAAAGTTAAAAGAGGATCTACTCTCTCACACCACAGCTGAGCTTAACTATGGGTTAGCTCATTTTGTCAATGAGATCCGACGGCCAAATGGAGAGAATTATGCACCTGACAGCATCTATTACCTTTGCCTTGGAATACAGGAG|ATTCTTGGATCTCCCAGTCAGCTTCATTTCCC

KTRQLDEDLLVLDELKSSKSVKLKEDLLSHTTAELNYGLAHFVNEIRRPNGENYAPDSIYYLCLGIQE|ilgspsqlhf

LH00995:48:23YTGFLT4:3:1421:4009:11509,LH00995:48:23YTGFLT4:3:1421:4964:21766,LH00995:48:23YTGFLT4:4:2342:24518:11579,LH00995:48:23YTGFLT4:6:2442:41798:22341

ZMYM2

ZMYM5

+/+

-/-

chr13:20006586

chr13:19838985

CDS/splice-site

inversion

10695

331

low

out-of-frame

MYM-type_Zinc_finger_with_FCS_sequence_motif(51%)|MYM-type_Zinc_finger_with_FCS_sequence_motif(100%)

ENSG00000121741.17

ENSG00000132950.19

ENST00000382874.6

ENST00000337963.9

downstream

duplicates(5),mismatches(5)

TGCTGTGAACAGTGTGGAGAGTACTTGCCCAGTAAAGGTGCTGGAAATAATGTTCTGGTGATTGATGGTCAACAGAAAAGATTTTGCTGTCAAAGTTGTGTCAGTGAATACAAACAG|ATTCTTGGATCTCCCAGTCAGCT

CCEQCGEYLPSKGAGNNVLVIDGQQKRFCCQSCVSEYKQ|ilgspsq

LH00995:48:23YTGFLT4:1:1227:41013:6297,LH00995:48:23YTGFLT4:2:1210:4309:10346,LH00995:48:23YTGFLT4:3:1121:28668:18908,LH00995:48:23YTGFLT4:3:1161:31338:12098,LH00995:48:23YTGFLT4:3:2316:23765:25157,LH00995:48:23YTGFLT4:4:2493:34323:25395,LH00995:48:23YTGFLT4:6:1152:15546:6633,LH00995:48:23YTGFLT4:6:2239:33959:20029,LH00995:48:23YTGFLT4:7:1296:18029:26124,LH00995:48:23YTGFLT4:7:2481:25941:19510

ZMYM2

ZMYM5

+/+

-/-

chr13:19993919

chr13:19838985

CDS/splice-site

inversion

14135

331

low

in-frame

|MYM-type_Zinc_finger_with_FCS_sequence_motif(100%)

ENSG00000121741.17

ENSG00000132950.19

ENST00000382874.6

ENST00000337963.9

downstream

mismappers(1)

CTAAtGGACTGCAGTCAAGTAATTTTGGTGTTAATATACAAACATACACCCCATCTTTAACTTCACAGACCAAGACTGGAGTAGGACCTTTTAATCCTGGTAGAATGAATGTGGCAGGAGACGTTTTTCAGAATGGAGAATCTGCAACTCATCATAgTCCTG|ATTCTTGGATCTCCCA

NGLQSSNFGVNIQTYTPSLTSQTKTGVGPFNPGRMNVAGDVFQNGESATHHsP|dSWIS

LH00995:48:23YTGFLT4:7:2215:50236:8286

LINC00486

SRSF5

+/+

chr2:32916557

chr14:69768615

intron

CDS/splice-site

translocation

65535

10460

low

|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(68%)

ENSG00000230876.8

ENSG00000100650.16

ENST00000553635.5

downstream

upstream

inconsistently_clipped(1)

GGGGGGGGGGGGGGGGGGGGGGGA|TCCAAGGGATGCAGATGATGCTGTGTATGAGCTTGATGGAAAAGAACTCTGTAGTGAAAG___GGTTACTATTGAACATGCTAGGGCTCGGTCACGAG

LH00995:48:23YTGFLT4:2:1478:12633:14704

LINC00486

FOSB

+/+

chr2:32916474

chr19:45470746

intron

CDS/splice-site

translocation

65535

low

|bZIP_transcription_factor(100%)

ENSG00000230876.8

ENSG00000125740.14

ENST00000585836.5

downstream

upstream

inconsistently_clipped(1)

GGGGGGGGGGGGGGGGGGGGGGGGAG|TCCCAGGGGCAGCCACTGGCCTCCCAGCCCCCGGTCGTCGACCCCTACGACATGCCGGGAACCAGCTACTCCACAC

LH00995:48:23YTGFLT4:3:1172:18337:10066

279 rows