aih-tih-sc-2798bb-R1_A23WJ53LT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-2798bb-R1_A23WJ53LT4_1)

File Info

Filename: aih-tih-sc-2798bb-R1_A23WJ53LT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/08/58772abc22d7a11c300b4debe17c85/aih-tih-sc-2798bb-R1_A23WJ53LT4_1.arriba.fusions.tsv
Size: 480.6 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-2798bb-R1_A23WJ53LT4_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

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

4675

549

high

out-of-frame

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

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

duplicates(101),mismatches(3)

GCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAA...___CTCTGGCAGGCTGCCCTGAGCACGCTCAACCCC

REREIRQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|agyeeetqnnrsglwnymevteegtnqrplsnqdvg

LH00995:41:23WJ53LT4:1:1111:26459:20827,LH00995:41:23WJ53LT4:1:1124:10886:23027,LH00995:41:23WJ53LT4:1:1303:1348:14045,LH00995:41:23WJ53LT4:1:1314:28069:10388,LH00995:41:23WJ53LT4:1:1333:39395:15265,LH00995:41:23WJ53LT4:1:1468:49411:9744,LH00995:41:23WJ53LT4:1:1490:18628:9533,LH00995:41:23WJ53LT4:1:1490:18636:9519,LH00995:41:23WJ53LT4:1:1490:18644:9505,LH00995:41:23WJ53LT4:1:2121:6372:4251,LH00995:41:23WJ53LT4:1:2166:44468:11944,LH00995:41:23WJ53LT4:1:2244:47210:14368,LH00995:41:23WJ53LT4:1:2284:5522:25676,LH00995:41:23WJ53LT4:1:2297:10473:1799,LH00995:41:23WJ53LT4:1:2335:24437:9505,LH00995:41:23WJ53LT4:1:2431:32972:10500,LH00995:41:23WJ53LT4:1:2436:34994:13751,LH00995:41:23WJ53LT4:1:2464:11040:8609,LH00995:41:23WJ53LT4:2:1164:13677:21808,LH00995:41:23WJ53LT4:2:1355:28126:25507,LH00995:41:23WJ53LT4:2:1361:2505:5708,LH00995:41:23WJ53LT4:2:1394:8378:5120,LH00995:41:23WJ53LT4:2:1467:51506:6759,LH00995:41:23WJ53LT4:2:1467:51522:6759,LH00995:41:23WJ53LT4:2:1491:25408:22313,LH00995:41:23WJ53LT4:2:2165:21071:8749,LH00995:41:23WJ53LT4:2:2209:49669:27007,LH00995:41:23WJ53LT4:2:2295:40414:26614,LH00995:41:23WJ53LT4:2:2402:50171:27231,LH00995:41:23WJ53LT4:2:2459:39128:1350,LH00995:41:23WJ53LT4:2:2480:21694:20421,LH00995:41:23WJ53LT4:3:1104:26144:2569,LH00995:41:23WJ53LT4:3:1127:46571:8076,LH00995:41:23WJ53LT4:3:1136:21605:9562,LH00995:41:23WJ53LT4:3:1222:9551:9730,LH00995:41:23WJ53LT4:3:1244:12860:16245,LH00995:41:23WJ53LT4:3:1244:1510:19202,LH00995:41:23WJ53LT4:3:1274:48634:13051,LH00995:41:23WJ53LT4:3:1276:12002:25381,LH00995:41:23WJ53LT4:3:1325:41426:12728,LH00995:41:23WJ53LT4:3:1357:30601:7516,LH00995:41:23WJ53LT4:3:1453:14065:21304,LH00995:41:23WJ53LT4:3:1463:35269:26755,LH00995:41:23WJ53LT4:3:1467:43521:7418,LH00995:41:23WJ53LT4:3:2189:33506:8230,LH00995:41:23WJ53LT4:3:2189:33514:8216,LH00995:41:23WJ53LT4:3:2189:33522:8230,LH00995:41:23WJ53LT4:3:2189:33530:8244,LH00995:41:23WJ53LT4:3:2306:12156:1546,LH00995:41:23WJ53LT4:3:2350:33231:3971,LH00995:41:23WJ53LT4:3:2386:12763:8286,LH00995:41:23WJ53LT4:3:2417:8791:1434,LH00995:41:23WJ53LT4:4:1113:7755:9281,LH00995:41:23WJ53LT4:4:1172:21969:29585,LH00995:41:23WJ53LT4:4:1172:21985:29585,LH00995:41:23WJ53LT4:4:1181:21840:2597,LH00995:41:23WJ53LT4:4:1193:21589:27834,LH00995:41:23WJ53LT4:4:1261:3492:24933,LH00995:41:23WJ53LT4:4:1261:3508:24933,LH00995:41:23WJ53LT4:4:1386:4705:2794,LH00995:41:23WJ53LT4:4:1392:50220:18684,LH00995:41:23WJ53LT4:4:1405:5320:2345,LH00995:41:23WJ53LT4:4:1415:27204:24274,LH00995:41:23WJ53LT4:4:2291:25221:16666,LH00995:41:23WJ53LT4:4:2291:25230:16652,LH00995:41:23WJ53LT4:4:2316:48051:10304,LH00995:41:23WJ53LT4:4:2448:38343:13471,LH00995:41:23WJ53LT4:5:1123:10821:6409,LH00995:41:23WJ53LT4:5:1157:30860:19090,LH00995:41:23WJ53LT4:5:1191:50640:25241,LH00995:41:23WJ53LT4:5:1230:35237:18936,LH00995:41:23WJ53LT4:5:1246:25577:10697,LH00995:41:23WJ53LT4:5:1364:20772:25325,LH00995:41:23WJ53LT4:5:1424:37518:29249,LH00995:41:23WJ53LT4:5:1426:38991:23728,LH00995:41:23WJ53LT4:5:1429:4268:22887,LH00995:41:23WJ53LT4:5:2149:23361:29305,LH00995:41:23WJ53LT4:5:2150:19283:11958,LH00995:41:23WJ53LT4:5:2331:4519:4013,LH00995:41:23WJ53LT4:5:2355:2464:18866,LH00995:41:23WJ53LT4:5:2473:11833:24611,LH00995:41:23WJ53LT4:6:1137:45964:6857,LH00995:41:23WJ53LT4:6:1137:45980:6857,LH00995:41:23WJ53LT4:6:1258:13523:1336,LH00995:41:23WJ53LT4:6:1258:13531:1350,LH00995:41:23WJ53LT4:6:1261:17811:5400,LH00995:41:23WJ53LT4:6:1325:7035:24849,LH00995:41:23WJ53LT4:6:1325:7043:24835,LH00995:41:23WJ53LT4:6:1325:7051:24849,LH00995:41:23WJ53LT4:6:1371:18830:16862,LH00995:41:23WJ53LT4:6:1398:36580:1729,LH00995:41:23WJ53LT4:6:1478:33514:20043,LH00995:41:23WJ53LT4:6:2239:44848:24961,LH00995:41:23WJ53LT4:6:2332:6364:14045,LH00995:41:23WJ53LT4:6:2378:21621:6507,LH00995:41:23WJ53LT4:1:1107:40390:10402,LH00995:41:23WJ53LT4:1:1357:29647:28030,LH00995:41:23WJ53LT4:1:1389:37397:21556,LH00995:41:23WJ53LT4:1:1457:50689:23840,LH00995:41:23WJ53LT4:1:2113:40301:5092,LH00995:41:23WJ53LT4:1:2165:22325:14228,LH00995:41:23WJ53LT4:1:2169:15837:28212,LH00995:41:23WJ53LT4:1:2204:15020:23378,LH00995:41:23WJ53LT4:1:2256:23013:1126,LH00995:41:23WJ53LT4:1:2345:42825:26250,LH00995:41:23WJ53LT4:1:2350:24073:28212,LH00995:41:23WJ53LT4:1:2350:24081:28226,LH00995:41:23WJ53LT4:1:2387:21613:27007,LH00995:41:23WJ53LT4:1:2396:41555:21920,LH00995:41:23WJ53LT4:1:2419:22770:28646,LH00995:41:23WJ53LT4:1:2450:37114:8511,LH00995:41:23WJ53LT4:1:2470:27454:18908,LH00995:41:23WJ53LT4:2:1110:23846:20785,LH00995:41:23WJ53LT4:2:1201:9462:18235,LH00995:41:23WJ53LT4:2:1262:27503:11846,LH00995:41:23WJ53LT4:2:1359:27090:11832,LH00995:41:23WJ53LT4:2:1388:35035:29319,LH00995:41:23WJ53LT4:2:1481:5636:18726,LH00995:41:23WJ53LT4:2:2179:26136:24050,LH00995:41:23WJ53LT4:2:2364:50292:19006,LH00995:41:23WJ53LT4:2:2424:15400:1336,LH00995:41:23WJ53LT4:2:2432:43634:7221,LH00995:41:23WJ53LT4:2:2492:49888:15559,LH00995:41:23WJ53LT4:3:1126:13248:8679,LH00995:41:23WJ53LT4:3:1133:46854:6773,LH00995:41:23WJ53LT4:3:1154:16856:3354,LH00995:41:23WJ53LT4:3:1217:15530:12770,LH00995:41:23WJ53LT4:3:1234:50009:11649,LH00995:41:23WJ53LT4:3:1239:51053:5918,LH00995:41:23WJ53LT4:3:1259:20772:25774,LH00995:41:23WJ53LT4:3:1375:4503:3396,LH00995:41:23WJ53LT4:3:1443:32680:22887,LH00995:41:23WJ53LT4:3:1444:36450:12378,LH00995:41:23WJ53LT4:3:1464:34897:5400,LH00995:41:23WJ53LT4:3:2135:38125:8889,LH00995:41:23WJ53LT4:3:2184:39751:29697,LH00995:41:23WJ53LT4:3:2302:14292:15643,LH00995:41:23WJ53LT4:3:2311:47631:20141,LH00995:41:23WJ53LT4:3:2379:29291:5162,LH00995:41:23WJ53LT4:4:1132:14171:22831,LH00995:41:23WJ53LT4:4:1163:31281:12504,LH00995:41:23WJ53LT4:4:1335:50365:12154,LH00995:41:23WJ53LT4:4:1347:23725:28450,LH00995:41:23WJ53LT4:4:1376:49669:22859,LH00995:41:23WJ53LT4:4:1376:49678:22873,LH00995:41:23WJ53LT4:4:1397:3209:26068,LH00995:41:23WJ53LT4:4:1412:33595:5610,LH00995:41:23WJ53LT4:4:1412:33603:5596,LH00995:41:23WJ53LT4:4:1435:14025:9463,LH00995:41:23WJ53LT4:4:1443:49241:8020,LH00995:41:23WJ53LT4:4:1470:46886:17647,LH00995:41:23WJ53LT4:4:2228:7820:29543,LH00995:41:23WJ53LT4:4:2233:47736:4797,LH00995:41:23WJ53LT4:4:2313:12973:23728,LH00995:41:23WJ53LT4:4:2393:14494:17787,LH00995:41:23WJ53LT4:4:2440:41984:14312,LH00995:41:23WJ53LT4:4:2443:49985:8272,LH00995:41:23WJ53LT4:4:2450:17285:26572,LH00995:41:23WJ53LT4:4:2451:42526:26040,LH00995:41:23WJ53LT4:5:1160:46385:8679,LH00995:41:23WJ53LT4:5:1169:40690:10108,LH00995:41:23WJ53LT4:5:1171:32074:8216,LH00995:41:23WJ53LT4:5:1171:32082:8202,LH00995:41:23WJ53LT4:5:1172:28684:29333,LH00995:41:23WJ53LT4:5:1227:23984:23994,LH00995:41:23WJ53LT4:5:1228:47663:27399,LH00995:41:23WJ53LT4:5:1249:8524:28492,LH00995:41:23WJ53LT4:5:1249:8532:28478,LH00995:41:23WJ53LT4:5:1260:45026:18655,LH00995:41:23WJ53LT4:5:1260:47331:24835,LH00995:41:23WJ53LT4:5:1286:14559:18796,LH00995:41:23WJ53LT4:5:1302:6145:5988,LH00995:41:23WJ53LT4:5:1355:19178:19426,LH00995:41:23WJ53LT4:5:1403:37267:26853,LH00995:41:23WJ53LT4:5:1455:2238:10486,LH00995:41:23WJ53LT4:5:2175:41790:9323,LH00995:41:23WJ53LT4:5:2220:28894:26867,LH00995:41:23WJ53LT4:5:2220:28902:26853,LH00995:41:23WJ53LT4:5:2333:12690:18473,LH00995:41:23WJ53LT4:5:2395:33498:19202,LH00995:41:23WJ53LT4:5:2455:32066:7922,LH00995:41:23WJ53LT4:5:2459:12318:24639,LH00995:41:23WJ53LT4:5:2465:39347:9379,LH00995:41:23WJ53LT4:5:2472:43618:7614,LH00995:41:23WJ53LT4:6:1172:23709:8441,LH00995:41:23WJ53LT4:6:1183:28619:2653,LH00995:41:23WJ53LT4:6:1241:38740:2275,LH00995:41:23WJ53LT4:6:1290:39120:1392,LH00995:41:23WJ53LT4:6:1315:25375:17745,LH00995:41:23WJ53LT4:6:1343:39686:14087,LH00995:41:23WJ53LT4:6:1396:12124:17549,LH00995:41:23WJ53LT4:6:1404:30965:15545,LH00995:41:23WJ53LT4:6:1414:30941:16343,LH00995:41:23WJ53LT4:6:2104:26856:28632,LH00995:41:23WJ53LT4:6:2163:23523:22551,LH00995:41:23WJ53LT4:6:2193:16258:27371,LH00995:41:23WJ53LT4:6:2201:17827:29361,LH00995:41:23WJ53LT4:6:2227:43456:11621,LH00995:41:23WJ53LT4:6:2285:40568:16287,LH00995:41:23WJ53LT4:6:2290:32980:4181,LH00995:41:23WJ53LT4:6:2317:50786:15797,LH00995:41:23WJ53LT4:6:2317:50794:15783,LH00995:41:23WJ53LT4:6:2317:50802:15797,LH00995:41:23WJ53LT4:6:2366:44864:5316,LH00995:41:23WJ53LT4:3:1134:36701:8020,LH00995:41:23WJ53LT4:3:1134:36717:8020,LH00995:41:23WJ53LT4:3:2452:9025:26250,LH00995:41:23WJ53LT4:6:2269:4050:29711,LH00995:41:23WJ53LT4:6:2269:4058:29697,LH00995:41:23WJ53LT4:6:2269:4066:29711

ATRX

AC074035.1(516181),MTND6P12(19165)

-/-

./+

chrX:77717131

chrX:5149753

CDS/splice-site

intergenic

inversion

10557

high

out-of-frame

ENSG00000085224.23

ENST00000373344.11

upstream

duplicates(203)

GCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAG___TGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGACTTCCTTGCACACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATGAATCAAAACACAG|GTTACAGGGGATAAGTACATCATTTCCATGGTGACCGGTGATGTAGAGAAGACACAGGAAAATTGACCACTAACAAGTTATATCCACTGGATTGAATGCCATAATGGATGTGAAAC

MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNT|gyrg*

LH00995:41:23WJ53LT4:1:1292:48731:6605,LH00995:41:23WJ53LT4:1:1292:48739:6619,LH00995:41:23WJ53LT4:1:1384:43424:8819,LH00995:41:23WJ53LT4:1:1385:9122:19076,LH00995:41:23WJ53LT4:1:1457:44815:14144,LH00995:41:23WJ53LT4:1:2381:24251:7558,LH00995:41:23WJ53LT4:1:2415:36094:19048,LH00995:41:23WJ53LT4:1:2491:13240:23490,LH00995:41:23WJ53LT4:2:1410:50762:26096,LH00995:41:23WJ53LT4:2:1410:50770:26082,LH00995:41:23WJ53LT4:2:1421:41126:9604,LH00995:41:23WJ53LT4:2:2185:21896:14073,LH00995:41:23WJ53LT4:2:2185:21913:14073,LH00995:41:23WJ53LT4:2:2331:9001:26068,LH00995:41:23WJ53LT4:3:2402:29792:26909,LH00995:41:23WJ53LT4:4:1210:35908:23910,LH00995:41:23WJ53LT4:4:1222:27163:8034,LH00995:41:23WJ53LT4:4:1304:10724:14368,LH00995:41:23WJ53LT4:4:1318:11234:11832,LH00995:41:23WJ53LT4:4:1455:12383:20603,LH00995:41:23WJ53LT4:4:1491:45964:9043,LH00995:41:23WJ53LT4:4:2242:14721:10500,LH00995:41:23WJ53LT4:4:2484:13127:16568,LH00995:41:23WJ53LT4:5:2185:39945:24513,LH00995:41:23WJ53LT4:5:2346:26451:15433,LH00995:41:23WJ53LT4:5:2346:26459:15447,LH00995:41:23WJ53LT4:5:2346:26475:15447,LH00995:41:23WJ53LT4:6:1215:39605:19973,LH00995:41:23WJ53LT4:6:1320:13596:10570,LH00995:41:23WJ53LT4:6:1350:30545:6549,LH00995:41:23WJ53LT4:6:2286:7674:21612,LH00995:41:23WJ53LT4:6:2323:42219:10038,LH00995:41:23WJ53LT4:6:2370:21071:25031,LH00995:41:23WJ53LT4:6:2370:21079:25045,LH00995:41:23WJ53LT4:1:1117:10312:22733,LH00995:41:23WJ53LT4:1:1138:45948:18235,LH00995:41:23WJ53LT4:1:1178:51053:1546,LH00995:41:23WJ53LT4:1:1183:52096:13023,LH00995:41:23WJ53LT4:1:1186:43634:20841,LH00995:41:23WJ53LT4:1:1187:23733:6493,LH00995:41:23WJ53LT4:1:1193:33748:11313,LH00995:41:23WJ53LT4:1:1193:33756:11299,LH00995:41:23WJ53LT4:1:1230:2553:6044,LH00995:41:23WJ53LT4:1:1248:39144:5274,LH00995:41:23WJ53LT4:1:1269:37170:12588,LH00995:41:23WJ53LT4:1:1271:50980:8398,LH00995:41:23WJ53LT4:1:1280:45511:15265,LH00995:41:23WJ53LT4:1:1289:21589:6227,LH00995:41:23WJ53LT4:1:1289:40762:29319,LH00995:41:23WJ53LT4:1:1293:18296:12742,LH00995:41:23WJ53LT4:1:1293:18305:12756,LH00995:41:23WJ53LT4:1:1324:8516:6731,LH00995:41:23WJ53LT4:1:1332:21783:8328,LH00995:41:23WJ53LT4:1:1332:22819:24779,LH00995:41:23WJ53LT4:1:1343:34485:10290,LH00995:41:23WJ53LT4:1:1387:18102:10136,LH00995:41:23WJ53LT4:1:1412:33093:11103,LH00995:41:23WJ53LT4:1:1427:45422:1715,LH00995:41:23WJ53LT4:1:1427:45438:1715,LH00995:41:23WJ53LT4:1:1444:9737:16021,LH00995:41:23WJ53LT4:1:1482:20270:27960,LH00995:41:23WJ53LT4:1:1497:4632:18978,LH00995:41:23WJ53LT4:1:2121:24178:2359,LH00995:41:23WJ53LT4:1:2153:12253:14662,LH00995:41:23WJ53LT4:1:2156:52129:11705,LH00995:41:23WJ53LT4:1:2196:44581:9057,LH00995:41:23WJ53LT4:1:2276:18038:11117,LH00995:41:23WJ53LT4:1:2290:31143:9071,LH00995:41:23WJ53LT4:1:2303:8904:15194,LH00995:41:23WJ53LT4:1:2353:37939:21710,LH00995:41:23WJ53LT4:1:2353:46814:16568,LH00995:41:23WJ53LT4:1:2357:46353:15489,LH00995:41:23WJ53LT4:1:2364:32583:24681,LH00995:41:23WJ53LT4:1:2420:14365:10136,LH00995:41:23WJ53LT4:1:2438:25909:4909,LH00995:41:23WJ53LT4:1:2438:25917:4895,LH00995:41:23WJ53LT4:1:2486:44427:21206,LH00995:41:23WJ53LT4:2:1186:28894:14480,LH00995:41:23WJ53LT4:2:1193:7877:5400,LH00995:41:23WJ53LT4:2:1220:4511:9323,LH00995:41:23WJ53LT4:2:1243:5191:12126,LH00995:41:23WJ53LT4:2:1244:49508:28072,LH00995:41:23WJ53LT4:2:1246:17051:22607,LH00995:41:23WJ53LT4:2:1254:11290:18207,LH00995:41:23WJ53LT4:2:1270:51724:21934,LH00995:41:23WJ53LT4:2:1271:33190:24863,LH00995:41:23WJ53LT4:2:1326:28878:23980,LH00995:41:23WJ53LT4:2:1332:22722:2275,LH00995:41:23WJ53LT4:2:1332:22730:2261,LH00995:41:23WJ53LT4:2:1342:50519:14830,LH00995:41:23WJ53LT4:2:1364:13960:1392,LH00995:41:23WJ53LT4:2:1366:50187:24457,LH00995:41:23WJ53LT4:2:1471:19308:14914,LH00995:41:23WJ53LT4:2:1488:18450:15755,LH00995:41:23WJ53LT4:2:1488:18458:15769,LH00995:41:23WJ53LT4:2:2120:7480:3929,LH00995:41:23WJ53LT4:2:2149:5684:12896,LH00995:41:23WJ53LT4:2:2174:29145:2023,LH00995:41:23WJ53LT4:2:2186:36620:29739,LH00995:41:23WJ53LT4:2:2197:5174:17058,LH00995:41:23WJ53LT4:2:2219:5061:19328,LH00995:41:23WJ53LT4:2:2226:44015:18529,LH00995:41:23WJ53LT4:2:2336:3831:21346,LH00995:41:23WJ53LT4:2:2347:50155:21430,LH00995:41:23WJ53LT4:2:2367:30440:25003,LH00995:41:23WJ53LT4:2:2402:35617:2948,LH00995:41:23WJ53LT4:2:2409:39104:4279,LH00995:41:23WJ53LT4:2:2416:1696:24008,LH00995:41:23WJ53LT4:2:2441:40779:20883,LH00995:41:23WJ53LT4:2:2456:48246:29697,LH00995:41:23WJ53LT4:2:2469:3896:16806,LH00995:41:23WJ53LT4:2:2488:51166:7824,LH00995:41:23WJ53LT4:3:1119:24574:29641,LH00995:41:23WJ53LT4:3:1125:29242:23181,LH00995:41:23WJ53LT4:3:1140:40690:23195,LH00995:41:23WJ53LT4:3:1190:1202:8749,LH00995:41:23WJ53LT4:3:1207:22091:7992,LH00995:41:23WJ53LT4:3:1209:43974:18964,LH00995:41:23WJ53LT4:3:1261:44201:1504,LH00995:41:23WJ53LT4:3:1316:33012:21360,LH00995:41:23WJ53LT4:3:1335:33465:24667,LH00995:41:23WJ53LT4:3:1343:9826:8749,LH00995:41:23WJ53LT4:3:1356:7108:22649,LH00995:41:23WJ53LT4:3:1364:27915:1350,LH00995:41:23WJ53LT4:3:1373:20610:27988,LH00995:41:23WJ53LT4:3:1410:15101:20771,LH00995:41:23WJ53LT4:3:2141:18499:5134,LH00995:41:23WJ53LT4:3:2158:6194:6297,LH00995:41:23WJ53LT4:3:2195:49192:19875,LH00995:41:23WJ53LT4:3:2202:24105:23167,LH00995:41:23WJ53LT4:3:2235:7213:24681,LH00995:41:23WJ53LT4:3:2249:12269:11972,LH00995:41:23WJ53LT4:3:2277:2286:5050,LH00995:41:23WJ53LT4:3:2297:11849:1378,LH00995:41:23WJ53LT4:3:2306:50600:29543,LH00995:41:23WJ53LT4:3:2315:20950:29389,LH00995:41:23WJ53LT4:3:2322:32430:3704,LH00995:41:23WJ53LT4:3:2341:15344:18249,LH00995:41:23WJ53LT4:3:2381:18709:9533,LH00995:41:23WJ53LT4:3:2439:44613:6086,LH00995:41:23WJ53LT4:3:2444:24914:16526,LH00995:41:23WJ53LT4:3:2468:31467:15461,LH00995:41:23WJ53LT4:3:2484:13103:16638,LH00995:41:23WJ53LT4:4:1135:42761:25073,LH00995:41:23WJ53LT4:4:1165:4163:20071,LH00995:41:23WJ53LT4:4:1174:11671:19146,LH00995:41:23WJ53LT4:4:1186:29558:7025,LH00995:41:23WJ53LT4:4:1186:29566:7039,LH00995:41:23WJ53LT4:4:1214:31467:26979,LH00995:41:23WJ53LT4:4:1281:40471:10879,LH00995:41:23WJ53LT4:4:1302:7318:22060,LH00995:41:23WJ53LT4:4:1342:39929:27876,LH00995:41:23WJ53LT4:4:1389:44435:27329,LH00995:41:23WJ53LT4:4:1421:26200:15307,LH00995:41:23WJ53LT4:4:1436:9972:2471,LH00995:41:23WJ53LT4:4:1436:9980:2457,LH00995:41:23WJ53LT4:4:1457:2683:9239,LH00995:41:23WJ53LT4:4:1457:2691:9225,LH00995:41:23WJ53LT4:4:2165:14810:25592,LH00995:41:23WJ53LT4:4:2190:24121:3466,LH00995:41:23WJ53LT4:4:2238:38877:27623,LH00995:41:23WJ53LT4:4:2247:36968:8314,LH00995:41:23WJ53LT4:4:2275:23701:27763,LH00995:41:23WJ53LT4:4:2288:37648:12995,LH00995:41:23WJ53LT4:4:2288:37664:12995,LH00995:41:23WJ53LT4:4:2352:29606:19608,LH00995:41:23WJ53LT4:4:2354:33910:29109,LH00995:41:23WJ53LT4:4:2377:50915:14872,LH00995:41:23WJ53LT4:4:2394:29331:4279,LH00995:41:23WJ53LT4:4:2398:28158:2107,LH00995:41:23WJ53LT4:4:2415:24898:17703,LH00995:41:23WJ53LT4:4:2415:24906:17689,LH00995:41:23WJ53LT4:4:2472:13523:1420,LH00995:41:23WJ53LT4:5:1114:15271:23728,LH00995:41:23WJ53LT4:5:1157:34614:3508,LH00995:41:23WJ53LT4:5:1177:29202:4503,LH00995:41:23WJ53LT4:5:1210:28207:7376,LH00995:41:23WJ53LT4:5:1216:9543:24877,LH00995:41:23WJ53LT4:5:1229:43052:12854,LH00995:41:23WJ53LT4:5:1244:39581:21304,LH00995:41:23WJ53LT4:5:1250:11970:23476,LH00995:41:23WJ53LT4:5:1309:35399:24625,LH00995:41:23WJ53LT4:5:1325:14195:16287,LH00995:41:23WJ53LT4:5:1328:37526:2303,LH00995:41:23WJ53LT4:5:1329:17876:3214,LH00995:41:23WJ53LT4:5:1340:5280:15082,LH00995:41:23WJ53LT4:5:1387:5822:25101,LH00995:41:23WJ53LT4:5:1411:43675:8581,LH00995:41:23WJ53LT4:5:1445:35868:6353,LH00995:41:23WJ53LT4:5:2109:7965:14130,LH00995:41:23WJ53LT4:5:2122:51312:2892,LH00995:41:23WJ53LT4:5:2142:28021:28941,LH00995:41:23WJ53LT4:5:2153:41353:16526,LH00995:41:23WJ53LT4:5:2160:18321:3648,LH00995:41:23WJ53LT4:5:2185:14260:4097,LH00995:41:23WJ53LT4:5:2209:15230:26685,LH00995:41:23WJ53LT4:5:2217:18523:12686,LH00995:41:23WJ53LT4:5:2234:2173:16091,LH00995:41:23WJ53LT4:5:2241:18588:3915,LH00995:41:23WJ53LT4:5:2246:33716:2149,LH00995:41:23WJ53LT4:5:2250:23523:19720,LH00995:41:23WJ53LT4:5:2252:26411:17016,LH00995:41:23WJ53LT4:5:2296:38036:14508,LH00995:41:23WJ53LT4:5:2328:3200:6829,LH00995:41:23WJ53LT4:5:2328:3209:6843,LH00995:41:23WJ53LT4:5:2361:29663:19650,LH00995:41:23WJ53LT4:5:2368:7650:2597,LH00995:41:23WJ53LT4:5:2413:46328:4881,LH00995:41:23WJ53LT4:5:2432:31774:21990,LH00995:41:23WJ53LT4:5:2444:17585:24036,LH00995:41:23WJ53LT4:5:2489:25343:8917,LH00995:41:23WJ53LT4:5:2489:25359:8917,LH00995:41:23WJ53LT4:5:2490:41215:22285,LH00995:41:23WJ53LT4:5:2494:16209:26082,LH00995:41:23WJ53LT4:5:2494:24057:16385,LH00995:41:23WJ53LT4:5:2497:20513:21374,LH00995:41:23WJ53LT4:6:1101:42882:20547,LH00995:41:23WJ53LT4:6:1105:30124:6521,LH00995:41:23WJ53LT4:6:1122:34031:5918,LH00995:41:23WJ53LT4:6:1131:11307:14003,LH00995:41:23WJ53LT4:6:1170:36669:26236,LH00995:41:23WJ53LT4:6:1224:3330:24961,LH00995:41:23WJ53LT4:6:1250:51182:17100,LH00995:41:23WJ53LT4:6:1250:51190:17114,LH00995:41:23WJ53LT4:6:1262:37178:27427,LH00995:41:23WJ53LT4:6:1392:51441:29599,LH00995:41:23WJ53LT4:6:1461:6736:24583,LH00995:41:23WJ53LT4:6:2110:30998:22159,LH00995:41:23WJ53LT4:6:2143:8338:25311,LH00995:41:23WJ53LT4:6:2143:8346:25297,LH00995:41:23WJ53LT4:6:2156:29986:13793,LH00995:41:23WJ53LT4:6:2158:34201:3746,LH00995:41:23WJ53LT4:6:2160:28999:27161,LH00995:41:23WJ53LT4:6:2193:51320:24961,LH00995:41:23WJ53LT4:6:2209:48691:8048,LH00995:41:23WJ53LT4:6:2219:46231:20968,LH00995:41:23WJ53LT4:6:2220:16023:3368,LH00995:41:23WJ53LT4:6:2224:37478:4321,LH00995:41:23WJ53LT4:6:2264:32551:5512,LH00995:41:23WJ53LT4:6:2264:45220:23392,LH00995:41:23WJ53LT4:6:2274:50389:22173,LH00995:41:23WJ53LT4:6:2276:9147:7011,LH00995:41:23WJ53LT4:6:2281:6161:8202,LH00995:41:23WJ53LT4:6:2346:14454:24751,LH00995:41:23WJ53LT4:6:2363:20303:27287,LH00995:41:23WJ53LT4:6:2376:44112:28786,LH00995:41:23WJ53LT4:6:2387:31815:11075,LH00995:41:23WJ53LT4:2:1173:44144:15251,LH00995:41:23WJ53LT4:2:1173:44152:15236,LH00995:41:23WJ53LT4:2:1173:44160:15222,LH00995:41:23WJ53LT4:2:1173:44176:15222,LH00995:41:23WJ53LT4:2:1422:6242:18375,LH00995:41:23WJ53LT4:2:1424:2553:27539,LH00995:41:23WJ53LT4:3:1489:28474:24092,LH00995:41:23WJ53LT4:3:2408:44605:4559,LH00995:41:23WJ53LT4:4:1280:9527:16414,LH00995:41:23WJ53LT4:4:1280:9535:16428,LH00995:41:23WJ53LT4:4:1280:9543:16414,LH00995:41:23WJ53LT4:5:1148:46903:16694,LH00995:41:23WJ53LT4:5:1148:46919:16694,LH00995:41:23WJ53LT4:5:2117:31281:14634,LH00995:41:23WJ53LT4:5:2334:33481:17128,LH00995:41:23WJ53LT4:5:2334:33498:17128,LH00995:41:23WJ53LT4:6:1195:35593:14704,LH00995:41:23WJ53LT4:6:1195:35609:14704

ATRX

AC074035.1(477864),MTND6P12(57482)

-/-

./-

chrX:77717131

chrX:5111436

CDS/splice-site

intergenic

deletion

10557

medium

out-of-frame

ENSG00000085224.23

ENST00000373344.11

upstream

downstream

duplicates(67)

CAATCACAGAAGCCGACAAGGCGTTCAAGCGAAAACATGACCGCTGAGCCCATGAG___TGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGACTTCCTTGCACACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATGAATCAAAACACAG|CAGCCTGAAATGGACCTAAGACACCTCATAAGAAGAGGAGATGAGGACACAGACCCACACAGAGGGACGACCCTGTGAAGACACGGGGAGAAGACAGTGTCTACAAGATAATGAGACAGGCC

MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNT|aa*

LH00995:41:23WJ53LT4:2:2217:46110:11593,LH00995:41:23WJ53LT4:4:2406:48820:23714,LH00995:41:23WJ53LT4:4:2498:14057:27343,LH00995:41:23WJ53LT4:5:1306:9729:19342,LH00995:41:23WJ53LT4:5:2378:33263:3578,LH00995:41:23WJ53LT4:5:2464:25909:16848,LH00995:41:23WJ53LT4:6:1378:13143:6563,LH00995:41:23WJ53LT4:1:1145:50624:22803,LH00995:41:23WJ53LT4:1:1209:49370:22621,LH00995:41:23WJ53LT4:1:1233:9834:20982,LH00995:41:23WJ53LT4:1:1387:39970:17296,LH00995:41:23WJ53LT4:1:1457:37001:26194,LH00995:41:23WJ53LT4:1:1468:37211:7334,LH00995:41:23WJ53LT4:1:2220:21193:11537,LH00995:41:23WJ53LT4:1:2324:49475:20617,LH00995:41:23WJ53LT4:2:1233:39152:29137,LH00995:41:23WJ53LT4:2:1345:13240:27834,LH00995:41:23WJ53LT4:2:1452:41272:18319,LH00995:41:23WJ53LT4:2:1461:17665:23420,LH00995:41:23WJ53LT4:2:2270:51215:19706,LH00995:41:23WJ53LT4:2:2468:47890:2962,LH00995:41:23WJ53LT4:2:2486:14632:22649,LH00995:41:23WJ53LT4:2:2492:50883:24288,LH00995:41:23WJ53LT4:3:1163:50203:9940,LH00995:41:23WJ53LT4:3:1222:28579:2639,LH00995:41:23WJ53LT4:3:1222:28595:2639,LH00995:41:23WJ53LT4:3:1244:25780:4209,LH00995:41:23WJ53LT4:3:1288:9098:7656,LH00995:41:23WJ53LT4:3:1292:23830:19132,LH00995:41:23WJ53LT4:3:1356:4818:3662,LH00995:41:23WJ53LT4:3:1359:1963:4685,LH00995:41:23WJ53LT4:3:1386:13515:7011,LH00995:41:23WJ53LT4:3:1397:35811:25984,LH00995:41:23WJ53LT4:3:1397:35819:25970,LH00995:41:23WJ53LT4:3:2250:41992:20407,LH00995:41:23WJ53LT4:3:2312:21921:26671,LH00995:41:23WJ53LT4:3:2319:13062:9421,LH00995:41:23WJ53LT4:3:2350:15004:9001,LH00995:41:23WJ53LT4:3:2412:2254:27245,LH00995:41:23WJ53LT4:3:2435:1647:20281,LH00995:41:23WJ53LT4:3:2497:36216:16932,LH00995:41:23WJ53LT4:4:1166:14915:19272,LH00995:41:23WJ53LT4:4:1194:35973:8553,LH00995:41:23WJ53LT4:4:1195:3524:15657,LH00995:41:23WJ53LT4:4:1353:46555:7095,LH00995:41:23WJ53LT4:4:1353:46563:7109,LH00995:41:23WJ53LT4:4:1382:23555:4251,LH00995:41:23WJ53LT4:4:1445:28660:23097,LH00995:41:23WJ53LT4:4:1498:26475:17324,LH00995:41:23WJ53LT4:4:2273:32155:20687,LH00995:41:23WJ53LT4:4:2413:12779:9940,LH00995:41:23WJ53LT4:4:2416:6930:4713,LH00995:41:23WJ53LT4:5:1120:31726:6997,LH00995:41:23WJ53LT4:5:1190:42688:15867,LH00995:41:23WJ53LT4:5:1224:30027:12798,LH00995:41:23WJ53LT4:5:1270:47801:27777,LH00995:41:23WJ53LT4:5:1326:26128:29501,LH00995:41:23WJ53LT4:5:1343:20966:6213,LH00995:41:23WJ53LT4:5:1352:3556:8202,LH00995:41:23WJ53LT4:5:1458:40746:6086,LH00995:41:23WJ53LT4:5:1492:28158:17857,LH00995:41:23WJ53LT4:5:2188:35051:6143,LH00995:41:23WJ53LT4:5:2190:45705:26558,LH00995:41:23WJ53LT4:5:2198:29873:8413,LH00995:41:23WJ53LT4:5:2305:18264:15124,LH00995:41:23WJ53LT4:5:2318:26419:24288,LH00995:41:23WJ53LT4:5:2319:6404:25465,LH00995:41:23WJ53LT4:5:2342:23798:19973,LH00995:41:23WJ53LT4:5:2364:23482:6535,LH00995:41:23WJ53LT4:5:2364:23498:6535,LH00995:41:23WJ53LT4:5:2364:23514:6535,LH00995:41:23WJ53LT4:5:2379:33069:27792,LH00995:41:23WJ53LT4:6:1109:15821:22355,LH00995:41:23WJ53LT4:6:1111:44322:3732,LH00995:41:23WJ53LT4:6:1125:30043:16806,LH00995:41:23WJ53LT4:6:1151:45252:8202,LH00995:41:23WJ53LT4:6:1249:21751:20323,LH00995:41:23WJ53LT4:6:1338:24906:26965,LH00995:41:23WJ53LT4:6:1393:36442:26628,LH00995:41:23WJ53LT4:6:1393:36450:26614,LH00995:41:23WJ53LT4:6:1433:23167:18459,LH00995:41:23WJ53LT4:6:1494:9575:24344,LH00995:41:23WJ53LT4:6:1494:9583:24330,LH00995:41:23WJ53LT4:6:2119:5304:20169,LH00995:41:23WJ53LT4:6:2224:17350:12896,LH00995:41:23WJ53LT4:6:2224:17366:12896,LH00995:41:23WJ53LT4:6:2263:11388:10893,LH00995:41:23WJ53LT4:6:2265:3111:26040,LH00995:41:23WJ53LT4:6:2281:14114:15727

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

458

270

high

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(48),mismappers(1)

AGACGGTCTCGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCC

RRSRHIAQTGLKVLGSRDPPASAFQSAGITGVSRCPGHPSRKFHQ|esepvmlrnq*

LH00995:41:23WJ53LT4:1:1382:35245:2023,LH00995:41:23WJ53LT4:1:1415:22212:1252,LH00995:41:23WJ53LT4:1:2194:30294:27385,LH00995:41:23WJ53LT4:1:2329:4867:17759,LH00995:41:23WJ53LT4:2:1135:2756:28646,LH00995:41:23WJ53LT4:2:1142:39711:9449,LH00995:41:23WJ53LT4:2:1142:39719:9435,LH00995:41:23WJ53LT4:2:1145:38861:10949,LH00995:41:23WJ53LT4:2:1215:37478:21304,LH00995:41:23WJ53LT4:2:1236:11088:23770,LH00995:41:23WJ53LT4:2:1315:7254:26320,LH00995:41:23WJ53LT4:2:1458:34873:2611,LH00995:41:23WJ53LT4:2:2212:4042:9183,LH00995:41:23WJ53LT4:2:2371:28708:16063,LH00995:41:23WJ53LT4:2:2435:20901:18123,LH00995:41:23WJ53LT4:3:2289:13993:7950,LH00995:41:23WJ53LT4:3:2386:51271:21206,LH00995:41:23WJ53LT4:3:2432:46830:19370,LH00995:41:23WJ53LT4:4:1142:11841:15461,LH00995:41:23WJ53LT4:4:1206:39945:6829,LH00995:41:23WJ53LT4:4:1230:2683:27203,LH00995:41:23WJ53LT4:4:1392:5943:16988,LH00995:41:23WJ53LT4:4:1440:50220:27932,LH00995:41:23WJ53LT4:4:1462:46765:15559,LH00995:41:23WJ53LT4:4:2271:29088:9463,LH00995:41:23WJ53LT4:5:1115:36855:19300,LH00995:41:23WJ53LT4:5:1130:40091:19917,LH00995:41:23WJ53LT4:5:1271:17059:16736,LH00995:41:23WJ53LT4:5:1471:18280:25578,LH00995:41:23WJ53LT4:5:2244:7553:20589,LH00995:41:23WJ53LT4:5:2295:50713:17689,LH00995:41:23WJ53LT4:5:2337:10595:15489,LH00995:41:23WJ53LT4:5:2381:37413:19594,LH00995:41:23WJ53LT4:6:1205:47882:2864,LH00995:41:23WJ53LT4:6:1428:43440:21934,LH00995:41:23WJ53LT4:6:2186:26249:25031,LH00995:41:23WJ53LT4:6:2218:25933:27904,LH00995:41:23WJ53LT4:6:2282:19542:2289,LH00995:41:23WJ53LT4:6:2286:42744:23952,LH00995:41:23WJ53LT4:1:1145:11388:11846,LH00995:41:23WJ53LT4:1:1249:51643:24877,LH00995:41:23WJ53LT4:1:1375:18774:20771,LH00995:41:23WJ53LT4:1:1448:5749:29543,LH00995:41:23WJ53LT4:1:2118:51109:9912,LH00995:41:23WJ53LT4:1:2252:8944:20309,LH00995:41:23WJ53LT4:1:2257:33206:19650,LH00995:41:23WJ53LT4:1:2274:21096:11285,LH00995:41:23WJ53LT4:1:2446:33926:16161,LH00995:41:23WJ53LT4:1:2446:33942:16161,LH00995:41:23WJ53LT4:2:1119:38004:26558,LH00995:41:23WJ53LT4:2:1119:38012:26544,LH00995:41:23WJ53LT4:2:1359:23555:6381,LH00995:41:23WJ53LT4:2:1359:28522:15825,LH00995:41:23WJ53LT4:2:1405:49378:13975,LH00995:41:23WJ53LT4:2:1441:39395:28436,LH00995:41:23WJ53LT4:2:2151:18766:16862,LH00995:41:23WJ53LT4:2:2294:40269:22691,LH00995:41:23WJ53LT4:2:2298:49014:27777,LH00995:41:23WJ53LT4:2:2305:14858:9029,LH00995:41:23WJ53LT4:2:2489:44961:14956,LH00995:41:23WJ53LT4:3:1132:13006:15797,LH00995:41:23WJ53LT4:3:1132:49313:22495,LH00995:41:23WJ53LT4:3:1137:46587:9421,LH00995:41:23WJ53LT4:3:1277:25027:9435,LH00995:41:23WJ53LT4:3:1327:34096:22088,LH00995:41:23WJ53LT4:3:1454:11040:1154,LH00995:41:23WJ53LT4:3:2164:30399:9968,LH00995:41:23WJ53LT4:3:2216:20392:19286,LH00995:41:23WJ53LT4:3:2271:4050:28926,LH00995:41:23WJ53LT4:3:2285:26928:23770,LH00995:41:23WJ53LT4:3:2342:27228:17282,LH00995:41:23WJ53LT4:3:2412:47679:1953,LH00995:41:23WJ53LT4:4:1187:22447:22004,LH00995:41:23WJ53LT4:4:1223:43966:20491,LH00995:41:23WJ53LT4:4:1247:4778:7656,LH00995:41:23WJ53LT4:4:1325:27244:15489,LH00995:41:23WJ53LT4:4:1355:9041:28156,LH00995:41:23WJ53LT4:4:2106:29841:24190,LH00995:41:23WJ53LT4:4:2366:18733:16918,LH00995:41:23WJ53LT4:4:2462:15886:20841,LH00995:41:23WJ53LT4:5:1173:4924:20603,LH00995:41:23WJ53LT4:5:1184:40180:11944,LH00995:41:23WJ53LT4:5:1215:15813:21416,LH00995:41:23WJ53LT4:5:1251:33044:10402,LH00995:41:23WJ53LT4:5:1316:43885:18922,LH00995:41:23WJ53LT4:5:1361:27317:5414,LH00995:41:23WJ53LT4:5:1461:42121:23238,LH00995:41:23WJ53LT4:5:2166:21500:13583,LH00995:41:23WJ53LT4:6:1140:2925:10360,LH00995:41:23WJ53LT4:6:1195:6655:9057,LH00995:41:23WJ53LT4:6:1225:36944:4797,LH00995:41:23WJ53LT4:6:1266:27721:20435,LH00995:41:23WJ53LT4:6:1270:7108:24387,LH00995:41:23WJ53LT4:6:1298:36386:20897,LH00995:41:23WJ53LT4:6:1477:40568:27749,LH00995:41:23WJ53LT4:6:1477:42162:26614,LH00995:41:23WJ53LT4:6:2225:45479:6128,LH00995:41:23WJ53LT4:6:2240:44597:11131,LH00995:41:23WJ53LT4:6:2307:30108:10164,LH00995:41:23WJ53LT4:2:2408:43950:26657,LH00995:41:23WJ53LT4:5:1268:48294:3830,LH00995:41:23WJ53LT4:5:1268:48302:3816,LH00995:41:23WJ53LT4:5:1268:48302:3844

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

735

270

medium

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(20)

AGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCT

SSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|esepvmlrnq*

LH00995:41:23WJ53LT4:1:1356:39970:28366,LH00995:41:23WJ53LT4:1:2138:8427:29669,LH00995:41:23WJ53LT4:1:2315:14251:17647,LH00995:41:23WJ53LT4:2:1457:50705:22103,LH00995:41:23WJ53LT4:2:1497:22536:25493,LH00995:41:23WJ53LT4:2:2152:26653:11047,LH00995:41:23WJ53LT4:2:2195:36653:6199,LH00995:41:23WJ53LT4:3:1284:23757:4041,LH00995:41:23WJ53LT4:3:2134:44079:2415,LH00995:41:23WJ53LT4:3:2209:15489:29067,LH00995:41:23WJ53LT4:4:1166:5652:23153,LH00995:41:23WJ53LT4:4:1309:24866:18123,LH00995:41:23WJ53LT4:4:1462:9187:16189,LH00995:41:23WJ53LT4:5:1143:13216:26390,LH00995:41:23WJ53LT4:5:1160:33368:16596,LH00995:41:23WJ53LT4:5:1304:46781:16203,LH00995:41:23WJ53LT4:5:2362:20505:11299,LH00995:41:23WJ53LT4:6:1139:15934:27371,LH00995:41:23WJ53LT4:6:1150:30812:8609,LH00995:41:23WJ53LT4:6:1256:29622:27203,LH00995:41:23WJ53LT4:6:1316:2788:27721,LH00995:41:23WJ53LT4:6:1418:31329:19118,LH00995:41:23WJ53LT4:6:2234:46158:22439,LH00995:41:23WJ53LT4:6:2306:39751:24008,LH00995:41:23WJ53LT4:6:2337:13499:4153,LH00995:41:23WJ53LT4:6:2337:13507:4139,LH00995:41:23WJ53LT4:1:1462:47259:22803,LH00995:41:23WJ53LT4:1:1462:47267:22789,LH00995:41:23WJ53LT4:1:2393:14251:17142,LH00995:41:23WJ53LT4:2:1480:51829:23097,LH00995:41:23WJ53LT4:2:2353:31742:16526,LH00995:41:23WJ53LT4:3:1167:7747:20925,LH00995:41:23WJ53LT4:3:1455:8224:23994,LH00995:41:23WJ53LT4:3:2363:11015:7165,LH00995:41:23WJ53LT4:4:1486:44112:5386,LH00995:41:23WJ53LT4:5:2480:9592:5792,LH00995:41:23WJ53LT4:2:2408:43950:26657,LH00995:41:23WJ53LT4:5:1268:48294:3830,LH00995:41:23WJ53LT4:5:1268:48302:3816,LH00995:41:23WJ53LT4:5:1268:48302:3844

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15438200

CDS/splice-site

deletion/read-through

735

374

medium

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(7)

GGCCTACGTTGGTGGAATCACATTGATGAAGATGGAAAGAGCCATTGGGTGTTTGAATCTAGAAAG___GAGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCA

GLRWWNHIDEDGKSHWVFESRKESSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:41:23WJ53LT4:1:2134:18021:21010,LH00995:41:23WJ53LT4:2:2290:23482:28646,LH00995:41:23WJ53LT4:4:2244:6170:19118,LH00995:41:23WJ53LT4:5:2340:6323:4531,LH00995:41:23WJ53LT4:1:2221:38707:5050,LH00995:41:23WJ53LT4:2:2397:17002:7838,LH00995:41:23WJ53LT4:3:2171:35051:9674,LH00995:41:23WJ53LT4:4:1410:34040:10052,LH00995:41:23WJ53LT4:4:2267:23045:24190,LH00995:41:23WJ53LT4:5:1279:9786:19917,LH00995:41:23WJ53LT4:5:1365:10312:13933,LH00995:41:23WJ53LT4:5:1365:10328:13933,LH00995:41:23WJ53LT4:6:1230:3548:3060,LH00995:41:23WJ53LT4:6:1449:30213:14045,LH00995:41:23WJ53LT4:2:2408:43950:26657,LH00995:41:23WJ53LT4:5:1268:48294:3830,LH00995:41:23WJ53LT4:5:1268:48302:3816,LH00995:41:23WJ53LT4:5:1268:48302:3844

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(13)

ACACACAGAGGAAGGACCGTGTGAAGACGAAGGGGGAAGATGCCGTCCACAAGCCAAGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGA

LH00995:41:23WJ53LT4:1:1435:35747:14830,LH00995:41:23WJ53LT4:1:2227:25788:22018,LH00995:41:23WJ53LT4:2:1133:25844:12308,LH00995:41:23WJ53LT4:2:1396:21541:23966,LH00995:41:23WJ53LT4:2:2465:31766:7516,LH00995:41:23WJ53LT4:2:2465:31782:7516,LH00995:41:23WJ53LT4:3:1124:27179:11874,LH00995:41:23WJ53LT4:3:1301:12876:18151,LH00995:41:23WJ53LT4:3:1301:12884:18137,LH00995:41:23WJ53LT4:3:2230:29881:11565,LH00995:41:23WJ53LT4:3:2230:29889:11579,LH00995:41:23WJ53LT4:4:1210:2100:6100,LH00995:41:23WJ53LT4:4:1252:1081:28604,LH00995:41:23WJ53LT4:4:2334:23061:2920,LH00995:41:23WJ53LT4:5:1237:36046:7642,LH00995:41:23WJ53LT4:5:1387:40309:4461,LH00995:41:23WJ53LT4:6:1295:49556:28492,LH00995:41:23WJ53LT4:6:2390:14761:22088,LH00995:41:23WJ53LT4:2:2408:43950:26657,LH00995:41:23WJ53LT4:5:1268:48294:3830,LH00995:41:23WJ53LT4:5:1268:48302:3816,LH00995:41:23WJ53LT4:5:1268:48302:3844

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2094

270

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(14)

GTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCC

VVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq*

LH00995:41:23WJ53LT4:6:2202:15780:14858,LH00995:41:23WJ53LT4:1:1239:51166:28730,LH00995:41:23WJ53LT4:1:2171:13612:25395,LH00995:41:23WJ53LT4:2:1225:4163:25984,LH00995:41:23WJ53LT4:2:1430:27009:21360,LH00995:41:23WJ53LT4:2:1430:27017:21346,LH00995:41:23WJ53LT4:2:2448:17940:2121,LH00995:41:23WJ53LT4:3:2144:16929:21668,LH00995:41:23WJ53LT4:3:2351:49572:3242,LH00995:41:23WJ53LT4:3:2482:28037:24821,LH00995:41:23WJ53LT4:3:2482:28733:23980,LH00995:41:23WJ53LT4:4:1241:12277:22663,LH00995:41:23WJ53LT4:5:1331:41175:21374,LH00995:41:23WJ53LT4:5:1459:9373:29011,LH00995:41:23WJ53LT4:5:2127:7059:4433,LH00995:41:23WJ53LT4:5:2187:4495:25942,LH00995:41:23WJ53LT4:5:2258:18054:15965,LH00995:41:23WJ53LT4:5:2463:18450:24555,LH00995:41:23WJ53LT4:2:2408:43950:26657,LH00995:41:23WJ53LT4:5:1268:48294:3830,LH00995:41:23WJ53LT4:5:1268:48302:3816,LH00995:41:23WJ53LT4:5:1268:48302:3844

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

2094

374

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(8)

TCTTCTCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAACTAGAGAACTGGAATGCATGCGTGCCCTCGAGGAAAGACCCTGGGCATCAAGGCAGAATAAACCTTCCAGCGTCATTCAGC

FSFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:41:23WJ53LT4:1:1452:42502:23700,LH00995:41:23WJ53LT4:2:1324:2141:24751,LH00995:41:23WJ53LT4:3:2251:14745:20659,LH00995:41:23WJ53LT4:3:2424:24671:17731,LH00995:41:23WJ53LT4:4:1287:3411:10781,LH00995:41:23WJ53LT4:4:2179:43473:7754,LH00995:41:23WJ53LT4:5:2474:25772:28632,LH00995:41:23WJ53LT4:5:2474:25788:28632,LH00995:41:23WJ53LT4:2:2408:43950:26657,LH00995:41:23WJ53LT4:5:1268:48294:3830,LH00995:41:23WJ53LT4:5:1268:48302:3816,LH00995:41:23WJ53LT4:5:1268:48302:3844

PCDHA10

PCDHAC1

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

213

749

high

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(73),mismappers(2)

GGCAGAGGGTGTGTTCTGGGGAGGGCCTGCCCAAGGCGGACCTCATGGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAGGGGACCACTCTAGGAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCC

QRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

LH00995:41:23WJ53LT4:1:1213:48844:9491,LH00995:41:23WJ53LT4:1:1226:5846:17240,LH00995:41:23WJ53LT4:1:1285:33311:25101,LH00995:41:23WJ53LT4:1:1285:33320:25115,LH00995:41:23WJ53LT4:1:1285:33328:25129,LH00995:41:23WJ53LT4:1:1338:2489:7109,LH00995:41:23WJ53LT4:1:1430:19437:10010,LH00995:41:23WJ53LT4:1:1488:10174:10949,LH00995:41:23WJ53LT4:1:2304:38149:17506,LH00995:41:23WJ53LT4:1:2310:49313:9435,LH00995:41:23WJ53LT4:2:1391:9681:3985,LH00995:41:23WJ53LT4:2:1391:9697:3985,LH00995:41:23WJ53LT4:2:1487:38384:1266,LH00995:41:23WJ53LT4:2:2198:47299:28198,LH00995:41:23WJ53LT4:2:2377:48707:17717,LH00995:41:23WJ53LT4:2:2457:31960:9393,LH00995:41:23WJ53LT4:3:2190:49152:6100,LH00995:41:23WJ53LT4:3:2246:49718:9519,LH00995:41:23WJ53LT4:3:2494:15360:7123,LH00995:41:23WJ53LT4:4:1161:11930:14017,LH00995:41:23WJ53LT4:4:2180:17447:28030,LH00995:41:23WJ53LT4:4:2278:45277:22845,LH00995:41:23WJ53LT4:4:2279:33570:15489,LH00995:41:23WJ53LT4:4:2322:6436:2878,LH00995:41:23WJ53LT4:4:2361:34727:21360,LH00995:41:23WJ53LT4:4:2373:13677:19819,LH00995:41:23WJ53LT4:4:2398:3799:27427,LH00995:41:23WJ53LT4:5:1232:1218:11187,LH00995:41:23WJ53LT4:5:1318:43926:1897,LH00995:41:23WJ53LT4:5:1406:22074:11271,LH00995:41:23WJ53LT4:5:2161:17641:26432,LH00995:41:23WJ53LT4:5:2180:43594:25395,LH00995:41:23WJ53LT4:5:2240:37931:3424,LH00995:41:23WJ53LT4:5:2240:37947:3424,LH00995:41:23WJ53LT4:6:1170:47825:28380,LH00995:41:23WJ53LT4:6:2316:4333:11565,LH00995:41:23WJ53LT4:6:2377:27147:1813,LH00995:41:23WJ53LT4:1:1230:10077:15741,LH00995:41:23WJ53LT4:1:1301:47623:26012,LH00995:41:23WJ53LT4:1:2193:16266:18081,LH00995:41:23WJ53LT4:1:2209:20109:22439,LH00995:41:23WJ53LT4:1:2288:29493:21682,LH00995:41:23WJ53LT4:1:2419:20376:24891,LH00995:41:23WJ53LT4:1:2488:8054:21150,LH00995:41:23WJ53LT4:2:1258:19162:20855,LH00995:41:23WJ53LT4:2:1311:3953:10654,LH00995:41:23WJ53LT4:2:1368:27648:1168,LH00995:41:23WJ53LT4:2:2301:13273:5134,LH00995:41:23WJ53LT4:2:2491:42138:10262,LH00995:41:23WJ53LT4:3:1107:22697:1645,LH00995:41:23WJ53LT4:3:1170:39978:21822,LH00995:41:23WJ53LT4:3:1339:37987:23252,LH00995:41:23WJ53LT4:3:1431:36895:14914,LH00995:41:23WJ53LT4:3:1463:1113:12770,LH00995:41:23WJ53LT4:3:2130:21460:20771,LH00995:41:23WJ53LT4:3:2201:42801:1883,LH00995:41:23WJ53LT4:3:2222:10554:12364,LH00995:41:23WJ53LT4:3:2385:16209:2205,LH00995:41:23WJ53LT4:3:2406:24097:12700,LH00995:41:23WJ53LT4:3:2454:3565:27245,LH00995:41:23WJ53LT4:4:1105:26823:1168,LH00995:41:23WJ53LT4:4:1117:29687:10893,LH00995:41:23WJ53LT4:4:1336:30577:26446,LH00995:41:23WJ53LT4:4:1394:49443:2878,LH00995:41:23WJ53LT4:4:2151:46466:16722,LH00995:41:23WJ53LT4:4:2325:34938:21472,LH00995:41:23WJ53LT4:5:1116:48755:15783,LH00995:41:23WJ53LT4:5:1250:2472:28156,LH00995:41:23WJ53LT4:5:1290:33481:4489,LH00995:41:23WJ53LT4:5:1387:32389:3242,LH00995:41:23WJ53LT4:5:1437:5595:20141,LH00995:41:23WJ53LT4:5:2120:34751:15937,LH00995:41:23WJ53LT4:5:2157:21905:9435,LH00995:41:23WJ53LT4:5:2212:24218:24849,LH00995:41:23WJ53LT4:5:2222:2691:5218,LH00995:41:23WJ53LT4:5:2293:40859:4685,LH00995:41:23WJ53LT4:5:2302:30270:20982,LH00995:41:23WJ53LT4:5:2354:1841:4027,LH00995:41:23WJ53LT4:5:2359:32769:2780,LH00995:41:23WJ53LT4:5:2414:4244:3004,LH00995:41:23WJ53LT4:5:2445:34048:6927,LH00995:41:23WJ53LT4:6:1111:49734:19889,LH00995:41:23WJ53LT4:6:1133:4835:28716,LH00995:41:23WJ53LT4:6:1161:42599:18263,LH00995:41:23WJ53LT4:6:1287:17665:26334,LH00995:41:23WJ53LT4:6:1358:30609:18291,LH00995:41:23WJ53LT4:1:1344:50616:10262,LH00995:41:23WJ53LT4:1:2219:29525:9435,LH00995:41:23WJ53LT4:1:2219:29533:9421,LH00995:41:23WJ53LT4:2:1286:40754:10472,LH00995:41:23WJ53LT4:3:2156:48545:2191,LH00995:41:23WJ53LT4:3:2156:48561:2191,LH00995:41:23WJ53LT4:3:2156:48569:2205,LH00995:41:23WJ53LT4:5:1121:14114:26628,LH00995:41:23WJ53LT4:5:1295:9705:26530,LH00995:41:23WJ53LT4:5:2203:21152:17212,LH00995:41:23WJ53LT4:5:2203:21160:17198

PCDHA10

PCDHA13

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

213

749

high

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(73),mismappers(2)

QRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

PCDHA10

PCDHAC2

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

213

749

high

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(73),mismappers(2)

QRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

FSIP1

AC013652.1

-/-

chr15:39600845

chr15:39071608

3'UTR/splice-site

exon/splice-site

deletion

2001

high

FSIP1_family(100%)|

ENSG00000150667.8

ENSG00000259345.7

ENST00000642527.1

ENST00000561058.5

upstream

downstream

duplicates(22)

CTCCTTCTTAGATGATCCACTGTATGGTATCAGTGTGAGCCTTTCATCAGAAGACCAACATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAG___...AAGAACGTCATGAGCACCAGGCTCTTCATAGGCTACTGAAATGAGGAAAGCTCTGACCCTCCACTCAAGAAGTTGCTACGCTG___GAACATTTCAAATTGGCTTAAAGCATTGTTTTGGAGGTGTGAATAATGAAGCCAAGGACATTAGCAA

LH00995:41:23WJ53LT4:1:2285:4187:4559,LH00995:41:23WJ53LT4:1:2453:49079:26096,LH00995:41:23WJ53LT4:1:2453:49087:26082,LH00995:41:23WJ53LT4:1:2453:49095:26096,LH00995:41:23WJ53LT4:2:1475:38756:25844,LH00995:41:23WJ53LT4:3:2223:19194:23181,LH00995:41:23WJ53LT4:3:2223:19203:23167,LH00995:41:23WJ53LT4:3:2223:19211:23181,LH00995:41:23WJ53LT4:3:2223:19219:23167,LH00995:41:23WJ53LT4:3:2223:19219:23195,LH00995:41:23WJ53LT4:4:2379:28927:15881,LH00995:41:23WJ53LT4:6:1445:46328:10682,LH00995:41:23WJ53LT4:6:1445:46336:10668,LH00995:41:23WJ53LT4:1:1148:12714:29725,LH00995:41:23WJ53LT4:1:1148:12722:29711,LH00995:41:23WJ53LT4:1:1158:14721:7558,LH00995:41:23WJ53LT4:1:2180:23498:22453,LH00995:41:23WJ53LT4:1:2209:25861:29235,LH00995:41:23WJ53LT4:1:2415:17981:5414,LH00995:41:23WJ53LT4:2:1210:21217:14466,LH00995:41:23WJ53LT4:2:1393:48796:18487,LH00995:41:23WJ53LT4:2:2255:28644:10094,LH00995:41:23WJ53LT4:2:2255:28652:10108,LH00995:41:23WJ53LT4:2:2474:25812:4237,LH00995:41:23WJ53LT4:3:2226:29461:5232,LH00995:41:23WJ53LT4:3:2406:45050:13009,LH00995:41:23WJ53LT4:4:1376:7084:21486,LH00995:41:23WJ53LT4:4:1448:28830:10332,LH00995:41:23WJ53LT4:4:2368:12512:24302,LH00995:41:23WJ53LT4:4:2406:1243:28716,LH00995:41:23WJ53LT4:5:1116:6234:8188,LH00995:41:23WJ53LT4:5:1293:1866:21724,LH00995:41:23WJ53LT4:5:1382:35447:22747,LH00995:41:23WJ53LT4:5:1382:35463:22747,LH00995:41:23WJ53LT4:5:2450:32964:27834,LH00995:41:23WJ53LT4:6:1128:10401:2850,LH00995:41:23WJ53LT4:6:1128:10409:2836,LH00995:41:23WJ53LT4:6:1290:49241:28142,LH00995:41:23WJ53LT4:6:1308:44079:17577

FSIP1

AC013652.1

-/-

chr15:39600845

chr15:39109798

3'UTR/splice-site

exon/splice-site

deletion

2001

medium

FSIP1_family(100%)|

ENSG00000150667.8

ENSG00000259345.7

ENST00000642527.1

ENST00000647271.1

upstream

downstream

duplicates(5)

ATCTGAAACTCAGTTCTCCAGAGAATACAATAGCAG___ATGAGCAGGAGACTAAAGATGCAGCAGAAGAATGTAAAGAACCCTAATCAAGGACTTGCTGGGTGTGCTTTTCAGAAAGTTG|AAAAATCTTCATGGAGTGGCAAAAGTTGTTTACCTGAAGCTCACAAGATGTATCC

LH00995:41:23WJ53LT4:2:1469:22123:9646,LH00995:41:23WJ53LT4:2:1469:22131:9632,LH00995:41:23WJ53LT4:3:1197:36394:5582,LH00995:41:23WJ53LT4:3:1405:28433:1995,LH00995:41:23WJ53LT4:4:2116:11226:23252,LH00995:41:23WJ53LT4:4:2164:33635:8146,LH00995:41:23WJ53LT4:4:2308:30173:15993,LH00995:41:23WJ53LT4:5:1307:10215:16568,LH00995:41:23WJ53LT4:5:1307:10231:16568,LH00995:41:23WJ53LT4:6:2177:42388:11874

FSIP1

AC013652.1

-/-

chr15:39594055

chr15:39071608

3'UTR/splice-site

exon/splice-site

deletion

829

low

FSIP1_family(100%)|

ENSG00000150667.8

ENSG00000259345.7

ENST00000642527.1

ENST00000560484.1

upstream

downstream

duplicates(1)

TAGGCGGTGAAATCTTTCCAGCCTATGTGACGAGGGTCATGCCACAGGGTGCGCACCTGAAGGAAAAGGAAAAGGAAAGGTTGAAACACAGCTCCTTCAG|ACATCTTCTGTAACCAGAAGCACTCCAAGAACAACACTTTCATTCATGGACTTAACAACTACATTAGATCATACCAGCCTGTCACTTCAAAGTCACCAGTGTCAAGG

LH00995:41:23WJ53LT4:2:1291:17771:10823,LH00995:41:23WJ53LT4:2:1291:17787:10823

PCDHA3

PCDHAC1

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

high

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(53),mismatches(1)

TGCCCAAGACCGACCTCATGGCTTTTAGCCCTAGCCTTCCTCCTTGTCCAATTAGCCGGGATAGAGAGGAGAAACAGGATGTGGACGTTGATCTCTCAGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTAT

PKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

LH00995:41:23WJ53LT4:2:1136:19939:18810,LH00995:41:23WJ53LT4:2:1449:20311:9505,LH00995:41:23WJ53LT4:2:2390:36620:22621,LH00995:41:23WJ53LT4:3:1101:36661:19272,LH00995:41:23WJ53LT4:3:1129:12391:8903,LH00995:41:23WJ53LT4:3:1213:20448:11565,LH00995:41:23WJ53LT4:3:2194:47922:25073,LH00995:41:23WJ53LT4:3:2213:28126:8272,LH00995:41:23WJ53LT4:4:1463:10789:29725,LH00995:41:23WJ53LT4:4:2102:50834:21766,LH00995:41:23WJ53LT4:4:2149:32850:19959,LH00995:41:23WJ53LT4:5:1330:42332:13737,LH00995:41:23WJ53LT4:5:1363:14640:25802,LH00995:41:23WJ53LT4:5:1490:14114:9253,LH00995:41:23WJ53LT4:5:2207:7286:10066,LH00995:41:23WJ53LT4:5:2249:50292:10290,LH00995:41:23WJ53LT4:1:1114:8257:2499,LH00995:41:23WJ53LT4:1:1137:39233:18375,LH00995:41:23WJ53LT4:1:1173:34193:20239,LH00995:41:23WJ53LT4:1:1195:20109:12882,LH00995:41:23WJ53LT4:1:1297:14009:22803,LH00995:41:23WJ53LT4:1:1332:40156:29473,LH00995:41:23WJ53LT4:1:1440:48391:21262,LH00995:41:23WJ53LT4:1:1456:31257:24709,LH00995:41:23WJ53LT4:1:1481:4155:28352,LH00995:41:23WJ53LT4:1:2269:35633:3312,LH00995:41:23WJ53LT4:1:2279:8952:14073,LH00995:41:23WJ53LT4:1:2314:42308:4223,LH00995:41:23WJ53LT4:1:2329:35391:26937,LH00995:41:23WJ53LT4:1:2465:23992:27315,LH00995:41:23WJ53LT4:2:2379:48941:27455,LH00995:41:23WJ53LT4:2:2380:39840:6731,LH00995:41:23WJ53LT4:3:1209:9179:2752,LH00995:41:23WJ53LT4:3:1487:41134:26404,LH00995:41:23WJ53LT4:3:2267:51409:17577,LH00995:41:23WJ53LT4:3:2334:17334:7544,LH00995:41:23WJ53LT4:4:1201:41677:8679,LH00995:41:23WJ53LT4:4:1228:34185:20533,LH00995:41:23WJ53LT4:4:1228:34193:20519,LH00995:41:23WJ53LT4:4:1327:39241:13569,LH00995:41:23WJ53LT4:4:1381:18822:21808,LH00995:41:23WJ53LT4:4:1387:47574:19426,LH00995:41:23WJ53LT4:4:1393:11784:27413,LH00995:41:23WJ53LT4:4:2327:21047:17927,LH00995:41:23WJ53LT4:4:2330:26297:6787,LH00995:41:23WJ53LT4:4:2336:10287:13611,LH00995:41:23WJ53LT4:4:2489:37025:26488,LH00995:41:23WJ53LT4:4:2489:37033:26474,LH00995:41:23WJ53LT4:4:2489:37033:26502,LH00995:41:23WJ53LT4:5:1227:44961:16806,LH00995:41:23WJ53LT4:5:1301:3734:14312,LH00995:41:23WJ53LT4:5:1326:26362:4545,LH00995:41:23WJ53LT4:5:1344:23086:10584,LH00995:41:23WJ53LT4:5:1468:48108:2499,LH00995:41:23WJ53LT4:5:2137:18660:14298,LH00995:41:23WJ53LT4:5:2256:49411:27483,LH00995:41:23WJ53LT4:5:2359:30456:21304,LH00995:41:23WJ53LT4:6:1107:9891:8216,LH00995:41:23WJ53LT4:6:1107:9899:8202,LH00995:41:23WJ53LT4:6:1107:9899:8230,LH00995:41:23WJ53LT4:6:1107:9907:8216,LH00995:41:23WJ53LT4:6:1114:17609:16596,LH00995:41:23WJ53LT4:6:1329:41539:8104,LH00995:41:23WJ53LT4:6:1460:41660:3578,LH00995:41:23WJ53LT4:6:1463:15975:12532,LH00995:41:23WJ53LT4:6:2247:3014:24106,LH00995:41:23WJ53LT4:6:2290:27681:3466,LH00995:41:23WJ53LT4:6:2292:1275:7081,LH00995:41:23WJ53LT4:6:2332:11703:27581,LH00995:41:23WJ53LT4:6:2345:24793:17885

PCDHA3

PCDHA13

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

high

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(53),mismatches(1)

PKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

PCDHA3

PCDHAC2

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

high

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(53),mismatches(1)

PKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

FAM86B1

ST18(31475),ALKAL1(41603)

-/-

./+

chr8:12193975

chr8:52492434

CDS/splice-site

intergenic

inversion

238

high

out-of-frame

Family_of_unknown_function(26%)|

ENSG00000186523.14

ENST00000448228.6

upstream

duplicates(8),mismatches(2)

CGGCAACtGCTGCGGCCTCGCCCACGTTATGGCGCCCGAGGAGAACGCGGGGACCGAACTCTTGCTGCAGGGTTTTGAGCGCCGCTTCCTGGCGGTGCGCACACTGCGCTCCTTCCCCTGGCAG|GAAACAGGGAGTCTGATTCCTTAAGAAGCCAAAGGGTAAAAATATGGAAACTCTTCACCTGGAGAGATAAGCCACGGGATTGAGAGATCCAGGGATTTTAATGA

MAPEENAGTELLLQGFERRFLAVRTLRSFPWQ|etgslip*

LH00995:41:23WJ53LT4:1:1118:18749:26250,LH00995:41:23WJ53LT4:1:2161:20545:4895,LH00995:41:23WJ53LT4:1:2270:18741:24695,LH00995:41:23WJ53LT4:1:2382:51158:18543,LH00995:41:23WJ53LT4:2:2444:40560:12126,LH00995:41:23WJ53LT4:4:1212:14648:17913,LH00995:41:23WJ53LT4:4:1235:5854:24120,LH00995:41:23WJ53LT4:4:1270:18563:17829,LH00995:41:23WJ53LT4:4:2332:13693:13289,LH00995:41:23WJ53LT4:5:1358:18652:22887,LH00995:41:23WJ53LT4:6:1278:45293:10290,LH00995:41:23WJ53LT4:6:2328:6315:25423,LH00995:41:23WJ53LT4:1:1121:28288:3032,LH00995:41:23WJ53LT4:1:1215:5037:15559,LH00995:41:23WJ53LT4:1:1215:5652:3088,LH00995:41:23WJ53LT4:2:1275:26581:6885,LH00995:41:23WJ53LT4:3:2255:34387:22705,LH00995:41:23WJ53LT4:4:2446:17318:16428,LH00995:41:23WJ53LT4:6:1396:33619:26727,LH00995:41:23WJ53LT4:6:2120:21638:19342,LH00995:41:23WJ53LT4:6:2211:27551:15825

KLRC4

KLRK1

-/-

chr12:10407636

chr12:10388875

3'UTR

5'UTR/splice-site

deletion/read-through

163

high

stop-codon

|Lectin_C-type_domain(100%)

ENSG00000183542.5

ENSG00000213809.9

ENST00000309384.2

ENST00000396451.4

upstream

downstream

duplicates(9)

ACATATTCCAACAGTTGTTATTACATTGGTAAGGAAAGAAGAACTTGGGAAGAAAGAGTTTGCTGGCCTGTGCTTCGAAGAACTCTGATCTGCTTTCTATAGATAATGAGGAAGAAATG|GAATCCTTTGTGCATTGAAGACTTTAGATTCCTCTCTGCGGTAGACGTGCACTTATAAGTATTTGATGGGGTGGATTCGTGGTCGGAGGTCTCGACACAGCTGGG___AGATGAGTGAATTTCATAATTATAACTTGGATCTGAAG

LH00995:41:23WJ53LT4:1:1343:51215:2780,LH00995:41:23WJ53LT4:2:1190:15659:4503,LH00995:41:23WJ53LT4:4:1204:46061:2541,LH00995:41:23WJ53LT4:4:1246:46296:15811,LH00995:41:23WJ53LT4:4:1246:46312:15811,LH00995:41:23WJ53LT4:4:2155:5142:4475,LH00995:41:23WJ53LT4:4:2169:19817:2065,LH00995:41:23WJ53LT4:5:2392:36410:19903,LH00995:41:23WJ53LT4:1:1184:9058:17927,LH00995:41:23WJ53LT4:1:1184:9066:17941,LH00995:41:23WJ53LT4:2:1497:14154:10080,LH00995:41:23WJ53LT4:2:2178:38424:23392,LH00995:41:23WJ53LT4:2:2340:8855:16119,LH00995:41:23WJ53LT4:3:1213:6275:15797,LH00995:41:23WJ53LT4:3:1347:3807:19959,LH00995:41:23WJ53LT4:4:1392:2125:11523,LH00995:41:23WJ53LT4:4:1461:36661:6717,LH00995:41:23WJ53LT4:4:2101:23757:1154,LH00995:41:23WJ53LT4:5:1166:46425:28338,LH00995:41:23WJ53LT4:5:1495:23539:11481

PRDM2

KAZN

+/+

chr1:13749487

chr1:14180435

CDS/splice-site

deletion

488

195

high

in-frame

SET_domain(100%)|SAM_domain_(Sterile_alpha_motif)(100%)

ENSG00000116731.22

ENSG00000189337.17

ENST00000376048.9

ENST00000636203.1

downstream

upstream

duplicates(1)

CCCTGAGATAGCAGCTGCGATTGAGGAAGAGCGAGCCAGCGCCCGGAGCAAGCGGAGCTCCCCCAAGAGCCGGAAAG|CTGTGCAATCATTGCACACCCTCAATGACCAGATTTCCCATTTTATTGTCACCAAGTCGAAGGCACTGGAGGAGGACAAAGACCCTTTTCTACCCACTGAGAAGGAGACTCTGAAGAGTTCCATGATATTGATGAGGCACCTCTTAATGGA

PEIAAAIEEERASARSKRSSPKSRK|aVQSLHTLNDQISHFIVTKSKALEEDKDPFLPTEKETLKSSMILMRHLLM

LH00995:41:23WJ53LT4:4:2202:38910:15180,LH00995:41:23WJ53LT4:5:2245:49920:14606,LH00995:41:23WJ53LT4:5:2362:27074:8637,LH00995:41:23WJ53LT4:2:1432:38327:8735,LH00995:41:23WJ53LT4:6:1194:10085:2583,LH00995:41:23WJ53LT4:6:2273:11768:14970

PRDM2

KAZN

+/+

chr1:13773188

chr1:14180435

CDS/splice-site

deletion

1124

195

medium

in-frame

SET_domain(100%)|SAM_domain_(Sterile_alpha_motif)(100%)

ENSG00000116731.22

ENSG00000189337.17

ENST00000235372.11

ENST00000636203.1

downstream

upstream

duplicates(2)

GCCCGGAGCAAGCGGAGCTCCCCCAAGAGCCGGAAAG___GGAAGAAAAAATCCCAGGAAAATAAAAACAAAGGAAACAAAATCCAAGACATACAACTGAAGACAAGTGAGCCAGATTTCACCTCTGCAAATATGAGAGATTCTGCAGAAG|CTGTGCAATCATTGCACACCCTCAATGACCAGATTTCCCATTTTATTGTCACCAAGTCGAAGGCACTGGAGGAGGACAAAGACCCTTTTCTACCCACTGAGAAGGAGACTCTGAAGAGTTCCATGATATTGATGAGGCACCTCTTAATGGATGCTCAG___GGTAGTCACTCACTGAGGACAAACTGTTGAGAGCAGGACCCAAACTGAGCAGTATAAAGACAAGG

ARSKRSSPKSRKGKKKSQENKNKGNKIQDIQLKTSEPDFTSANMRDSAE|aVQSLHTLNDQISHFIVTKSKALEEDKDPFLPTEKETLKSSMILMRHLLMDAQgshslrtnc*

LH00995:41:23WJ53LT4:2:2421:49087:20561,LH00995:41:23WJ53LT4:3:1318:4357:5470,LH00995:41:23WJ53LT4:5:1114:44112:23938,LH00995:41:23WJ53LT4:5:1223:46806:24849,LH00995:41:23WJ53LT4:5:1291:49354:6283,LH00995:41:23WJ53LT4:5:1291:49362:6297

PRDM2

KAZN

+/+

chr1:13782831

chr1:14180435

CDS/splice-site

deletion/read-through

1251

195

low

out-of-frame

C2H2-type_zinc_finger(100%),SET_domain(100%),Zinc_finger__C2H2_type(100%)|SAM_domain_(Sterile_alpha_motif)(100%)

ENSG00000116731.22

ENSG00000189337.17

ENST00000235372.11

ENST00000636203.1

downstream

upstream

duplicates(1)

GGGGGGCCAGTCACCCGGAGCCTTCAGCTGGCAGCTGCTGCTGACTTGAGTGAGAACAAGAGAGAGGACGGCAGCGCCAAGCAGGAGCTGAAGGACTTCAG|CTGTGCAATCATTGCACACCCTCAATGACCAGATTTCCCATTTTATTGTCACCAAGTCGAAGcCACTGGAGG

GGPVTRSLQLAAAADLSENKREDGSAKQELKDFs|caiiahpq*

LH00995:41:23WJ53LT4:2:2170:40293:27974,LH00995:41:23WJ53LT4:2:2217:39476:9940,LH00995:41:23WJ53LT4:2:2360:3435:24022,LH00995:41:23WJ53LT4:5:1212:12828:28548

TLK2

LINC01347

+/+

-/-

chr17:62560126

chr1:243097299

CDS/splice-site

exon/splice-site

translocation

1572

576

high

ENSG00000146872.18

ENSG00000214837.8

ENST00000578697.1

ENST00000627498.2

downstream

duplicates(10),mismatches(4),multimappers(6)

GACAGACCCAG___GCCAACTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAAG|ATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAACGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGAAACTCAgCTGCCTCTGTCCCTCTGGGCACGCCTCATGCCAGGTGCATCTGTGGACAGGGGCCA?GCTCCTGGGCTTCCAAAGTTGGAGAAAGCTGCCAGGCTCAG

LH00995:41:23WJ53LT4:1:1156:51668:7151,LH00995:41:23WJ53LT4:1:1445:4592:8230,LH00995:41:23WJ53LT4:1:2195:39047:3256,LH00995:41:23WJ53LT4:1:2272:13734:16442,LH00995:41:23WJ53LT4:2:2383:36572:10739,LH00995:41:23WJ53LT4:2:2383:36588:10739,LH00995:41:23WJ53LT4:3:1152:12221:14690,LH00995:41:23WJ53LT4:3:1252:25739:1420,LH00995:41:23WJ53LT4:3:1256:51328:13709,LH00995:41:23WJ53LT4:3:1256:51344:13709,LH00995:41:23WJ53LT4:3:1491:19777:8637,LH00995:41:23WJ53LT4:3:1491:19785:8623,LH00995:41:23WJ53LT4:4:1166:4584:21752,LH00995:41:23WJ53LT4:4:1237:23765:13779,LH00995:41:23WJ53LT4:5:1336:33344:2766,LH00995:41:23WJ53LT4:5:2133:24801:2485,LH00995:41:23WJ53LT4:5:2237:2319:22733,LH00995:41:23WJ53LT4:6:1167:24024:27595,LH00995:41:23WJ53LT4:6:1238:3144:8833,LH00995:41:23WJ53LT4:6:2213:11541:11327,LH00995:41:23WJ53LT4:1:1436:4616:26068,LH00995:41:23WJ53LT4:1:2118:10635:3564,LH00995:41:23WJ53LT4:2:2112:15958:4741,LH00995:41:23WJ53LT4:4:2264:43909:25802

KANSL1

LRRC37A2

-/-

+/+

chr17:46152904

chr17:46517362

exon/splice-site

CDS/splice-site

inversion

141

820

high

|LRRC37A/B_like_protein_1_C-terminal_domain(100%),Leucine_rich_repeat(100%)

ENSG00000120071.15

ENSG00000238083.8

ENST00000639356.1

ENST00000576629.5

upstream

duplicates(6)

AGAAAAGCTGCCAGTGAGACCACCACTTCAGAGGGACTTAGCAACTTTCTGAAAAGCAATTCAATTTCAGAAGAATTGGAGAGATTTACAGCTAGTGGCATAGCCAACTTGAGGTGCAGTGAACAGGCATTTGATTCAGATGTCACTGACA...AGTTCAGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT___GTATCTCCATACAGCCAAGAATAAAGAAAGAAAGGGATAGATGGAATGAGTTTCATCGTGATT|AAATTTCCAAGGAAACTATATTTCTTACATTGATGGAAATGTATGGAAAGCATACAGTTGGACCGAGAAACT___AATTCTCAATCACAATCCTCTGACAACTGTTGAAGATCCGTATCTCTTTAAATTGCCAGCATTAAAATATCT___AGACATGGGAACAACGCTAGTCCCA

LH00995:41:23WJ53LT4:4:2333:39525:19552,LH00995:41:23WJ53LT4:4:2333:39541:19552,LH00995:41:23WJ53LT4:3:1328:29655:28688,LH00995:41:23WJ53LT4:4:1272:46150:12196,LH00995:41:23WJ53LT4:4:2287:3281:23784,LH00995:41:23WJ53LT4:5:1374:49030:21948,LH00995:41:23WJ53LT4:5:1374:49047:21948,LH00995:41:23WJ53LT4:5:1374:49055:21962,LH00995:41:23WJ53LT4:6:1496:33603:6353,LH00995:41:23WJ53LT4:6:1496:33619:6353

KANSL1

LRRC37A2

-/-

+/+

chr17:46170855

chr17:46548312

CDS/splice-site

inversion

1858

2835

low

out-of-frame

|LRRC37A/B_like_protein_1_C-terminal_domain(100%)

ENSG00000120071.15

ENSG00000238083.8

ENST00000574590.6

ENST00000576629.5

upstream

multimappers(1)

ACTGACAGTAGTTCgGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT|CTGAAGAAGCATCGGTAGGGAATCCAGAAGGAGCGT

TDSSSGGESDIEEEELTRADPEQRHVPl|*

LH00995:41:23WJ53LT4:1:1293:21775:7278

ALG1L6P

FAM86B1

+/+

-/+

chr3:75421019

chr8:12186288

exon/splice-site

3'UTR

translocation/5'-5'

237

high

ENSG00000238278.3

ENSG00000186523.14

ENST00000515248.1

downstream

upstream

duplicates(3),mismatches(1)

TGAGCTGGTGAAACATGAAGAAAAcGGCCTGGTCTTTGAGGACTCAGAGGAACTGGCAGCTCAGCTGCAG|AGCCAAGAGCTGGGTAGAGCTGCAAGGACACCGCCTGCACAGGATGCCCGGGGCTGGGCATTACCTGCTGCAATGACAACATCTGGC

LH00995:41:23WJ53LT4:2:2155:51279:4937,LH00995:41:23WJ53LT4:2:2284:15975:22397,LH00995:41:23WJ53LT4:2:2338:32640:22789,LH00995:41:23WJ53LT4:3:1152:5716:16652,LH00995:41:23WJ53LT4:3:1272:15133:4545,LH00995:41:23WJ53LT4:4:2497:34978:14956,LH00995:41:23WJ53LT4:5:1304:34978:7670

PMS2P6

CCDC146

+/+

chr7:73100706

chr7:77167658

exon/splice-site

5'UTR/splice-site

deletion

316

332

high

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

duplicates(3),multimappers(2)

GGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG___AAACGTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGTTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGAGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCCCACAATTAACATTCAAGATGAGCGGTTTGTTGATTTATCTGAAACTCCAGCTTTCATTTTTCTGCATGAG___TTACATGCTATGGGAAAACTTCCTGGAACCAGAATG

LH00995:41:23WJ53LT4:6:2307:32187:6479,LH00995:41:23WJ53LT4:6:1313:30569:12336,LH00995:41:23WJ53LT4:2:2126:39961:2485,LH00995:41:23WJ53LT4:2:2126:40010:2401,LH00995:41:23WJ53LT4:2:2290:14745:17492,LH00995:41:23WJ53LT4:2:2290:14745:17492,LH00995:41:23WJ53LT4:2:2290:14745:17492,LH00995:41:23WJ53LT4:2:2290:14745:17492

PMS2P6

CCDC146

+/+

chr7:73097567

chr7:77167658

exon/splice-site

5'UTR/splice-site

deletion

830

332

low

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

duplicates(17),mismatches(6)

ACTAATgTTG___ATCTAAAGCTTAAGGACTATGGAATGGATCTCATTGAAGTTTCAGGCAATGGATGTGGGGTAGAAGAAGAAAACTTCGAAGGCTTAA___ATCTAAAGCTTAAGGACTATGGAATGGATCTCATTGAAGTTTCAGGCAATGGATGTGGGGTAGAAGAAGAAAACTTCGAAGGCTTAA___TGATGTCACCATTTCTACCTGCCACGTATCGGCGAAGGTTGGGACTCGACTGGT...GATCACGATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGAGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCCCACAATTAACATTCAAGATGAGCGGTTTGTTGATTTATCTGAAACTCCAGCTTTCATTTTTCTGCATGAGGTATATTTTTCTTTATATGTTACTACAGTAAAAC

LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:3:1406:32098:28828,LH00995:41:23WJ53LT4:1:2489:41701:11187,LH00995:41:23WJ53LT4:4:1115:25286:13387,LH00995:41:23WJ53LT4:4:1416:37591:2499

PMS2P6

CCDC146

+/+

chr7:73097567

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

830

463

low

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

duplicates(32),mismatches(2),multimappers(9)

TGATGTCACCATTTCTACCTGCCACGTATCGGCGAAGGTTGGGACTCGACTGGTGTTTGATCACGATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGC...___GATGAAGTGGCC

LH00995:41:23WJ53LT4:1:1105:8597:7432,LH00995:41:23WJ53LT4:1:1258:45794:17492,LH00995:41:23WJ53LT4:1:1258:45794:17492,LH00995:41:23WJ53LT4:1:1258:45794:17492,LH00995:41:23WJ53LT4:1:1258:45794:17492,LH00995:41:23WJ53LT4:1:1258:45794:17492,LH00995:41:23WJ53LT4:1:1258:45794:17492,LH00995:41:23WJ53LT4:1:1258:45794:17492,LH00995:41:23WJ53LT4:1:1258:45794:17492,LH00995:41:23WJ53LT4:1:1258:45794:17492,LH00995:41:23WJ53LT4:1:2466:1510:9814,LH00995:41:23WJ53LT4:1:2466:1510:9814,LH00995:41:23WJ53LT4:1:2466:1510:9814,LH00995:41:23WJ53LT4:1:2466:1518:9828,LH00995:41:23WJ53LT4:1:2466:1518:9828,LH00995:41:23WJ53LT4:1:2466:1518:9828,LH00995:41:23WJ53LT4:2:2452:50931:11481,LH00995:41:23WJ53LT4:2:2452:50931:11481,LH00995:41:23WJ53LT4:2:2452:50931:11481,LH00995:41:23WJ53LT4:2:2452:50931:11481,LH00995:41:23WJ53LT4:2:2452:50931:11481,LH00995:41:23WJ53LT4:2:2452:50931:11481,LH00995:41:23WJ53LT4:2:2452:50931:11481,LH00995:41:23WJ53LT4:2:2452:50931:11481,LH00995:41:23WJ53LT4:2:2452:50931:11481,LH00995:41:23WJ53LT4:3:1122:18434:2639,LH00995:41:23WJ53LT4:3:1122:18434:2639,LH00995:41:23WJ53LT4:3:1122:18434:2639,LH00995:41:23WJ53LT4:2:1374:11760:16105,LH00995:41:23WJ53LT4:2:1429:48343:6044,LH00995:41:23WJ53LT4:2:1429:48351:6030,LH00995:41:23WJ53LT4:3:1361:11614:12238,LH00995:41:23WJ53LT4:3:1361:11622:12224,LH00995:41:23WJ53LT4:3:1375:8443:16357,LH00995:41:23WJ53LT4:3:2160:13815:7586,LH00995:41:23WJ53LT4:4:1336:2537:10725,LH00995:41:23WJ53LT4:4:2177:13208:6058,LH00995:41:23WJ53LT4:4:2177:13224:6058,LH00995:41:23WJ53LT4:5:1166:37203:18137,LH00995:41:23WJ53LT4:5:1387:9130:28282,LH00995:41:23WJ53LT4:5:2464:8863:27399,LH00995:41:23WJ53LT4:6:1282:39007:9912,LH00995:41:23WJ53LT4:6:1464:40301:26446

PMS2P6

CCDC146

+/+

chr7:73097567

chr7:77241691

exon/splice-site

CDS/splice-site

deletion

830

318

low

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

multimappers(1)

GTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGCCAAACGTTTCACTGAGCAAATACAACAGCAGCAGTTTCACCTGCAGCAAGCTGATAATTTTCCAGAAGCATTCTCC

LH00995:41:23WJ53LT4:6:2110:13264:2766

PMS2P6

CCDC146

+/+

chr7:73100706

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

316

463

low

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

multimappers(1)

CAGTTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACtTTGCTGCATGACGCCGTGATGAGGTATGCAATTTACCAATATGGAGACATGATTAATCACCTTTAAATTTCTTACTGGTGATGAGACCTGTCTTCATTTGCATTCCCCCATAAGCAGACCCTGAGGCAAGGATTTGCGTTCAGGGAGTTTGAGAAGTGGTACG

LH00995:41:23WJ53LT4:1:2141:16371:1476

PMS2P6

CCDC146

+/+

chr7:73100706

chr7:77241691

exon/splice-site

CDS/splice-site

deletion

316

318

low

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

multimappers(1)

GGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGCCAAACGTTTCACTGAGCAAATACAACAGCAGCAGTTTCACCTGCAGCAAGCTGATAATTTTCC

LH00995:41:23WJ53LT4:6:2384:39169:6493

ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

157

2104

2191

medium

in-frame

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

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(267),mismappers(55)

CTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGT

RSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPP

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ADAMTS7

-/-

chr15:78765842

chr15:78765848

CDS

duplication/ITD

1262

708

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(178)

GACAGTTCCCTGGAGCCaGGGACTCCC?CCTTCCCAACCCCAGGACCAGGCTCATGGGACCTGCAGACTGTGGCAGTGTGGGGGACCTTCCTCCCCACAACCCTGACTGGCCTCGGGCACATGCCTGAGCCTGCCCTGAACCCAGGACCCA|GGACCCAAGGGcCAGCCTGAGTCCCTCAGCCCTGAGGTGCCCCTGAGCTCTAGGCTGCTGTCCACACCAGCTTGGGACAGCCCCGCCAACAGCCACAGAGcCCCTGAGACCCAGCCG

DSSLEPGTP?FPTPGPGSWDLQTVAVWGTFLPTTLTGLGHMPEPALNPGP|rtqgpa*

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ARHGEF35

-/-

chr7:144188356

chr7:144188377

CDS

duplication/ITD

119

1343

1613

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(190),low_entropy(4)

GCGCTGGGGACGGCTCTGGGGACTGCGGCCGGCGCCGGGACCTGGAGGGGACGCTGGGGCCGAAGCAGCATGTGACACCGACCAG___GATTCAGCCCTGATGGAGGCTGAGGAGGCCCAGCgTGGAG|GCTGAGGAGGCCCAGCgTGGAGCCTCTCCTCCCATCTCTGCCATAGAGGAATTCAGCATTATCCCTGAGGCTCCCATGAGGAGCAGCCAGGTCTCTGCCTTGGGGCTTGAAGCTCAAGAAGATGAGGAC

MEAEEAQrG|g*

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2:1476:39241:21528,LH00995:41:23WJ53LT4:2:1476:39241:21528,LH00995:41:23WJ53LT4:2:1495:4899:28576,LH00995:41:23WJ53LT4:2:1495:4899:28576,LH00995:41:23WJ53LT4:2:1496:11323:22943,LH00995:41:23WJ53LT4:2:1496:11323:22943,LH00995:41:23WJ53LT4:2:2102:42591:26572,LH00995:41:23WJ53LT4:2:2102:42591:26572,LH00995:41:23WJ53LT4:2:2106:4374:7572,LH00995:41:23WJ53LT4:2:2130:50033:7964,LH00995:41:23WJ53LT4:2:2164:28199:19412,LH00995:41:23WJ53LT4:2:2172:5854:10192,LH00995:41:23WJ53LT4:2:2172:5854:10192,LH00995:41:23WJ53LT4:2:2211:15174:16890,LH00995:41:23WJ53LT4:2:2211:15174:16890,LH00995:41:23WJ53LT4:2:2214:44840:22929,LH00995:41:23WJ53LT4:2:2214:44840:22929,LH00995:41:23WJ53LT4:2:2226:47776:19412,LH00995:41:23WJ53LT4:2:2226:47776:19412,LH00995:41:23WJ53LT4:2:2237:17447:27021,LH00995:41:23WJ53LT4:2:2237:17447:27021,LH00995:41:23WJ53LT4:2:2251:36030:18123,LH00995:41:23WJ53LT4:2:2251:36030:18123,LH00995:41:23WJ53LT4:2:2308:32308:18067,LH00995:41:23WJ53LT4:2:2308:32308:18067,LH00995:41:23WJ53LT4:2:2326:14996:19889,LH00995:41:23WJ53LT4:2:2326:14996:19889,LH00995:41:23WJ53LT4:2:2362:14826:19482,LH00995:41:23WJ53LT4:2:2362:14826:19482,LH00995:41:23WJ53LT4:2:2371:52137:17520,LH00995:41:23WJ53LT4:2:2371:52137:17520,LH00995:41:23WJ53LT4:2:2389:3953:11215,LH00995:41:23WJ53LT4:2:2389:3953:11215,LH00995:41:23WJ53LT4:2:2401:24008:4195,LH00995:41:23WJ53LT4:2:2401:24008:4195,LH00995:41:23WJ53LT4:2:2422:21686:24302,LH00995:41:23WJ53LT4:2:2422:21686:24302,LH00995:41:23WJ53LT4:2:2427:16411:7600,LH00995:41:23WJ53LT4:2:2443:21290:19048,LH00995:41:23WJ53LT4:2:2443:21290:19048,LH00995:41:23WJ53LT4:2:2470:26233:6787,LH00995:41:23WJ53LT4:2:2470:26233:6787,LH00995:41:23WJ53LT4:2:2470:26233:6787,LH00995:41:23WJ53LT4:3:1114:3880:1168,LH00995:41:23WJ53LT4:3:1114:3880:1168,LH00995:41:23WJ53LT4:3:1143:42591:11719,LH00995:41:23WJ53LT4:3:1143:42591:11719,LH00995:41:23WJ53LT4:3:1187:28627:29599,LH00995:41:23WJ53LT4:3:1187:28627:29599,LH00995:41:23WJ53LT4:3:1227:23644:3312,LH00995:41:23WJ53LT4:3:1228:16476:15082,LH00995:41:23WJ53LT4:3:1228:16476:15082,LH00995:41:23WJ53LT4:3:1263:16055:28366,LH00995:41:23WJ53LT4:3:1263:16055:28366,LH00995:41:23WJ53LT4:3:1268:15619:3901,LH00995:41:23WJ53LT4:3:1268:15619:3901,LH00995:41:23WJ53LT4:3:1268:15627:3915,LH00995:41:23WJ53LT4:3:1268:15627:3915,LH00995:41:23WJ53LT4:3:1276:32349:29207,LH00995:41:23WJ53LT4:3:1276:32349:29207,LH00995:41:23WJ53LT4:3:1277:25674:5708,LH00995:41:23WJ53LT4:3:1277:25674:5708,LH00995:41:23WJ53LT4:3:1280:45042:10164,LH00995:41:23WJ53LT4:3:1280:45042:10164,LH00995:41:23WJ53LT4:3:1318:40237:1504,LH00995:41:23WJ53LT4:3:1318:40237:1504,LH00995:41:23WJ53LT4:3:1321:44031:3873,LH00995:41:23WJ53LT4:3:1321:44031:3873,LH00995:41:23WJ53LT4:3:1325:10053:20911,LH00995:41:23WJ53LT4:3:1325:10053:20911,LH00995:41:23WJ53LT4:3:1346:21848:23097,LH00995:41:23WJ53LT4:3:1346:21848:23097,LH00995:41:23WJ53LT4:3:1346:21856:23111,LH00995:41:23WJ53LT4:3:1346:21856:23111,LH00995:41:23WJ53LT4:3:1373:23854:9281,LH00995:41:23WJ53LT4:3:1373:23854:9281,LH00995:41:23WJ53LT4:3:1415:8863:1504,LH00995:41:23WJ53LT4:3:1415:8863:1504,LH00995:41:23WJ53LT4:3:1415:8880:1504,LH00995:41:23WJ53LT4:3:1415:8880:1504,LH00995:41:23WJ53LT4:3:1450:22228:15405,LH00995:41:23WJ53LT4:3:1450:22228:15405,LH00995:41:23WJ53LT4:3:1460:22754:4769,LH00995:41:23WJ53LT4:3:1460:22754:4769,LH00995:41:23WJ53LT4:3:1482:47388:2878,LH00995:41:23WJ53LT4:3:1482:47388:2878,LH00995:41:23WJ53LT4:3:1488:43650:15937,LH00995:41:23WJ53LT4:3:1488:43650:15937,LH00995:41:23WJ53LT4:3:2101:40560:16498,LH00995:41:23WJ53LT4:3:2101:40560:16498,LH00995:41:23WJ53LT4:3:2149:15853:6745,LH00995:41:23WJ53LT4:3:2149:15853:6745,LH00995:41:23WJ53LT4:3:2161:6590:19706,LH00995:41:23WJ53LT4:3:2161:6590:19706,LH00995:41:23WJ53LT4:3:2183:45349:1532,LH00995:41:23WJ53LT4:3:2183:45349:1532,LH00995:41:23WJ53LT4:3:2190:2084:10528,LH00995:41:23WJ53LT4:3:2190:2084:10528,LH00995:41:23WJ53LT4:3:2191:33902:1210,LH00995:41:23WJ53LT4:3:2191:33902:1210,LH00995:41:23WJ53LT4:3:2204:41434:11705,LH00995:41:23WJ53LT4:3:2209:35358:24415,LH00995:41:23WJ53LT4:3:2209:35358:24415,LH00995:41:23WJ53LT4:3:2219:48157:21360,LH00995:41:23WJ53LT4:3:2233:22042:22957,LH00995:41:23WJ53LT4:3:2233:22042:22957,LH00995:41:23WJ53LT4:3:2233:22058:22957,LH00995:41:23WJ53LT4:3:2233:22058:22957,LH00995:41:23WJ53LT4:3:2234:6703:25844,LH00995:41:23WJ53LT4:3:2265:34161:25564,LH00995:41:23WJ53LT4:3:2265:34161:25564,LH00995:41:23WJ53LT4:3:2269:13839:1799,LH00995:41:23WJ53LT4:3:2305:4754:27427,LH00995:41:23WJ53LT4:3:2353:23830:8707,LH00995:41:23WJ53LT4:3:2353:23830:8707,LH00995:41:23WJ53LT4:3:2356:4293:22593,LH00995:41:23WJ53LT4:3:2356:4293:22593,LH00995:41:23WJ53LT4:3:2365:14931:10528,LH00995:41:23WJ53LT4:3:2365:14931:10528,LH00995:41:23WJ53LT4:3:2379:49823:21052,LH00995:41:23WJ53LT4:3:2402:47704:8244,LH00995:41:23WJ53LT4:3:2402:47704:8244,LH00995:41:23WJ53LT4:3:2406:23272:20323,LH00995:41:23WJ53LT4:3:2406:23272:20323,LH00995:41:23WJ53LT4:3:2407:26281:10570,LH00995:41:23WJ53LT4:3:2407:26281:10570,LH00995:41:23WJ53LT4:3:2427:39872:19706,LH00995:41:23WJ53LT4:3:2427:39872:19706,LH00995:41:23WJ53LT4:3:2427:39881:19692,LH00995:41:23WJ53LT4:3:2427:39881:19692,LH00995:41:23WJ53LT4:3:2432:13645:23938,LH00995:41:23WJ53LT4:3:2446:22115:4055,LH00995:41:23WJ53LT4:3:2471:11363:19174,LH00995:41:23WJ53LT4:3:2471:11363:19174,LH00995:41:23WJ53LT4:3:2498:25310:19202,LH00995:41:23WJ53LT4:3:2498:25310:19202,LH00995:41:23WJ53LT4:4:1101:28563:27581,LH00995:41:23WJ53LT4:4:1101:28563:27581,LH00995:41:23WJ53LT4:4:1129:22536:28772,LH00995:41:23WJ53LT4:4:1157:21969:27455,LH00995:41:23WJ53LT4:4:1157:21969:27455,LH00995:41:23WJ53LT4:4:1160:20481:22383,LH00995:41:23WJ53LT4:4:1160:20481:22383,LH00995:41:23WJ53LT4:4:1163:33231:29417,LH00995:41:23WJ53LT4:4:1163:33231:29417,LH00995:41:23WJ53LT4:4:1177:21233:10767,LH00995:41:23WJ53LT4:4:1177:21233:10767,LH00995:41:23WJ53LT4:4:1212:31046:12182,LH00995:41:23WJ53LT4:4:1212:31046:12182,LH00995:41:23WJ53LT4:4:1217:30779:19398,LH00995:41:23WJ53LT4:4:1217:30779:19398,LH00995:41:23WJ53LT4:4:1218:15052:20491,LH00995:41:23WJ53LT4:4:1247:9001:13541,LH00995:41:23WJ53LT4:4:1247:9001:13541,LH00995:41:23WJ53LT4:4:1286:31532:22831,LH00995:41:23WJ53LT4:4:1291:9122:9127,LH00995:41:23WJ53LT4:4:1291:9139:9127,LH00995:41:23WJ53LT4:4:1293:9009:9632,LH00995:41:23WJ53LT4:4:1293:9009:9632,LH00995:41:23WJ53LT4:4:1304:1841:18039,LH00995:41:23WJ53LT4:4:1304:1841:18039,LH00995:41:23WJ53LT4:4:1305:36588:14998,LH00995:41:23WJ53LT4:4:1305:36588:14998,LH00995:41:23WJ53LT4:4:1314:49224:2415,LH00995:41:23WJ53LT4:4:1328:29307:29627,LH00995:41:23WJ53LT4:4:1328:29307:29627,LH00995:41:23WJ53LT4:4:1352:3589:15573,LH00995:41:23WJ53LT4:4:1352:3589:15573,LH00995:41:23WJ53LT4:4:1393:44168:19692,LH00995:41:23WJ53LT4:4:1401:14494:10220,LH00995:41:23WJ53LT4:4:1401:14494:10220,LH00995:41:23WJ53LT4:4:1405:14203:24793,LH00995:41:23WJ53LT4:4:1405:14203:24793,LH00995:41:23WJ53LT4:4:1407:40253:1953,LH00995:41:23WJ53LT4:4:1407:40253:1953,LH00995:41:23WJ53LT4:4:1415:21524:20491,LH00995:41:23WJ53LT4:4:1435:11655:18810,LH00995:41:23WJ53LT4:4:1436:8855:3732,LH00995:41:23WJ53LT4:4:1436:8855:3732,LH00995:41:23WJ53LT4:4:1448:23660:19174,LH00995:41:23WJ53LT4:4:1448:23660:19174,LH00995:41:23WJ53LT4:4:1459:47995:21136,LH00995:41:23WJ53LT4:4:1474:30019:5610,LH00995:41:23WJ53LT4:4:1474:30019:5610,LH00995:41:23WJ53LT4:4:1496:13192:12840,LH00995:41:23WJ53LT4:4:2105:6801:29543,LH00995:41:23WJ53LT4:4:2108:6016:12154,LH00995:41:23WJ53LT4:4:2108:6016:12154,LH00995:41:23WJ53LT4:4:2124:49920:5862,LH00995:41:23WJ53LT4:4:2212:45665:21724,LH00995:41:23WJ53LT4:4:2212:45665:21724,LH00995:41:23WJ53LT4:4:2214:3734:20589,LH00995:41:23WJ53LT4:2:1254:49572:27203,LH00995:41:23WJ53LT4:2:1437:50745:8525,LH00995:41:23WJ53LT4:5:2205:11816:29515

PRUNE2

-/-

chr9:76709219

chr9:76709230

CDS

duplication/ITD

711

677

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(214)

ATTCCACCTCAGACTCTTACACATCACCAACATTTGCTGGAGACGAAAAGGAAACTGAACACAAGCCATTTGCTAAAGAGGAAGGTTTTGAGTCAAAAGATGGTAACTCCAtGGCAGAGGAGACTGACATTCCTCCTCAGTCACTGCAACAGTCA|c|TGCAACAGTCATCTCGAAATCGAATCAGTTCAGGTCCTGGGAACCTAGACATGTGGGCTTCACCTCATACAGATAACAGTTCTGAAATAAATACCACTCACAACCTGGATGAAAATGAACTCAAGACAGAGCA

STSDSYTSPTFAGDEKETEHKPFAKEEGFESKDGNSmAEETDIPPQSLQQS|lQQSSRNRISSGPGNLDMWASPHTDNSSEINTTHNLDENELKTE

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,LH00995:41:23WJ53LT4:5:1403:35423:13009,LH00995:41:23WJ53LT4:5:1427:15060:18347,LH00995:41:23WJ53LT4:5:1436:32567:21234,LH00995:41:23WJ53LT4:5:1493:3856:14802,LH00995:41:23WJ53LT4:5:2117:8758:1939,LH00995:41:23WJ53LT4:5:2156:2197:15629,LH00995:41:23WJ53LT4:5:2169:44799:10753,LH00995:41:23WJ53LT4:5:2171:43392:28156,LH00995:41:23WJ53LT4:5:2204:39419:21164,LH00995:41:23WJ53LT4:5:2227:49839:24274,LH00995:41:23WJ53LT4:5:2282:25966:25718,LH00995:41:23WJ53LT4:5:2366:6736:15082,LH00995:41:23WJ53LT4:5:2369:13451:16259,LH00995:41:23WJ53LT4:5:2447:20206:1953,LH00995:41:23WJ53LT4:6:1116:37955:24232,LH00995:41:23WJ53LT4:6:1144:39436:5442,LH00995:41:23WJ53LT4:6:1146:35132:22453,LH00995:41:23WJ53LT4:6:1147:43828:9323,LH00995:41:23WJ53LT4:6:1147:43837:9337,LH00995:41:23WJ53LT4:6:1148:30844:14746,LH00995:41:23WJ53LT4:6:1218:40657:22551,LH00995:41:23WJ53LT4:6:1305:21961:8216,LH00995:41:23WJ53LT4:6:1321:39840:2051,LH00995:41:23WJ53LT4:6:1342:15020:15811,LH00995:41:23WJ53LT4:6:1342:15028:15825,LH00995:41:23WJ53LT4:6:1384:9753:26727,LH00995:41:23WJ53LT4:6:1396:25699:12616,LH00995:41:23WJ53LT4:6:2136:48407:19945,LH00995:41:23WJ53LT4:6:2148:26200:9169,LH00995:41:23WJ53LT4:6:2170:42680:19776,LH00995:41:23WJ53LT4:6:2179:40188:22327,LH00995:41:23WJ53LT4:6:2184:26678:9183,LH00995:41:23WJ53LT4:6:2185:25116:2023,LH00995:41:23WJ53LT4:6:2257:33409:25578,LH00995:41:23WJ53LT4:6:2376:18393:25409,LH00995:41:23WJ53LT4:1:1111:22277:5036,LH00995:41:23WJ53LT4:1:1190:47655:20351,LH00995:41:23WJ53LT4:1:1212:6234:11271,LH00995:41:23WJ53LT4:1:1286:31079:21822,LH00995:41:23WJ53LT4:1:1293:50907:13457,LH00995:41:23WJ53LT4:1:1329:18296:11593,LH00995:41:23WJ53LT4:1:1445:4422:26348,LH00995:41:23WJ53LT4:1:2130:30682:10094,LH00995:41:23WJ53LT4:1:2130:36515:1869,LH00995:41:23WJ53LT4:1:2145:12261:24120,LH00995:41:23WJ53LT4:1:2190:47558:28198,LH00995:41:23WJ53LT4:1:2232:24671:18459,LH00995:41:23WJ53LT4:1:2250:29105:17506,LH00995:41:23WJ53LT4:1:2436:28207:3873,LH00995:41:23WJ53LT4:1:2464:42558:14494,LH00995:41:23WJ53LT4:1:2487:7108:25311,LH00995:41:23WJ53LT4:1:2488:3298:21290,LH00995:41:23WJ53LT4:2:1264:11841:20925,LH00995:41:23WJ53LT4:2:2120:24663:6843,LH00995:41:23WJ53LT4:2:2159:29849:13695,LH00995:41:23WJ53LT4:2:2208:47251:18193,LH00995:41:23WJ53LT4:2:2239:18264:7922,LH00995:41:23WJ53LT4:2:2350:7383:20379,LH00995:41:23WJ53LT4:2:2355:28959:8707,LH00995:41:23WJ53LT4:2:2391:44896:25381,LH00995:41:23WJ53LT4:2:2436:48602:3410,LH00995:41:23WJ53LT4:2:2446:3734:7081,LH00995:41:23WJ53LT4:3:1230:33918:6927,LH00995:41:23WJ53LT4:3:1291:45875:25031,LH00995:41:23WJ53LT4:3:1305:35552:23658,LH00995:41:23WJ53LT4:3:1378:17431:4881,LH00995:41:23WJ53LT4:3:1464:35285:11565,LH00995:41:23WJ53LT4:3:2155:16193:8987,LH00995:41:23WJ53LT4:3:2163:2100:18936,LH00995:41:23WJ53LT4:3:2242:13006:27792,LH00995:41:23WJ53LT4:3:2242:16161:28688,LH00995:41:23WJ53LT4:3:2258:45762:28366,LH00995:41:23WJ53LT4:3:2327:14535:27749,LH00995:41:23WJ53LT4:3:2362:23506:20029,LH00995:41:23WJ53LT4:3:2387:40269:21822,LH00995:41:23WJ53LT4:3:2388:7221:6843,LH00995:41:23WJ53LT4:3:2430:26192:13163,LH00995:41:23WJ53LT4:3:2454:28902:8048,LH00995:41:23WJ53LT4:3:2479:45770:20197,LH00995:41:23WJ53LT4:4:1111:20659:6605,LH00995:41:23WJ53LT4:4:1112:20278:12700,LH00995:41:23WJ53LT4:4:1172:46903:3326,LH00995:41:23WJ53LT4:4:1196:2375:19496,LH00995:41:23WJ53LT4:4:1196:6040:2079,LH00995:41:23WJ53LT4:4:1196:6056:2079,LH00995:41:23WJ53LT4:4:1198:19211:15447,LH00995:41:23WJ53LT4:4:1198:19219:15433,LH00995:41:23WJ53LT4:4:1228:1704:22985,LH00995:41:23WJ53LT4:4:1449:22487:17002,LH00995:41:23WJ53LT4:4:1474:34185:9828,LH00995:41:23WJ53LT4:4:1481:18968:5750,LH00995:41:23WJ53LT4:4:2117:12722:10486,LH00995:41:23WJ53LT4:4:2122:29914:14704,LH00995:41:23WJ53LT4:4:2145:2869:11383,LH00995:41:23WJ53LT4:4:2212:34751:18992,LH00995:41:23WJ53LT4:4:2230:6841:23139,LH00995:41:23WJ53LT4:4:2264:9697:22593,LH00995:41:23WJ53LT4:4:2298:42914:29431,LH00995:41:23WJ53LT4:4:2323:48691:3368,LH00995:41:23WJ53LT4:4:2325:31507:7656,LH00995:41:23WJ53LT4:4:2404:3006:21626,LH00995:41:23WJ53LT4:4:2405:9130:17997,LH00995:41:23WJ53LT4:4:2466:12844:27988,LH00995:41:23WJ53LT4:5:1185:18660:21696,LH00995:41:23WJ53LT4:5:1250:47550:5680,LH00995:41:23WJ53LT4:5:1260:19397:29585,LH00995:41:23WJ53LT4:5:1269:45794:22649,LH00995:41:23WJ53LT4:5:1277:22738:10346,LH00995:41:23WJ53LT4:5:1378:32114:28969,LH00995:41:23WJ53LT4:5:1391:46911:15054,LH00995:41:23WJ53LT4:5:1403:35423:13009,LH00995:41:23WJ53LT4:5:1427:15060:18347,LH00995:41:23WJ53LT4:5:1436:32567:21234,LH00995:41:23WJ53LT4:5:1493:3856:14802,LH00995:41:23WJ53LT4:5:2117:8758:1939,LH00995:41:23WJ53LT4:5:2156:2197:15629,LH00995:41:23WJ53LT4:5:2169:44799:10753,LH00995:41:23WJ53LT4:5:2171:43392:28156,LH00995:41:23WJ53LT4:5:2204:39419:21164,LH00995:41:23WJ53LT4:5:2227:49839:24274,LH00995:41:23WJ53LT4:5:2282:25966:25718,LH00995:41:23WJ53LT4:5:2366:6736:15082,LH00995:41:23WJ53LT4:5:2369:13451:16259,LH00995:41:23WJ53LT4:5:2447:20206:1953,LH00995:41:23WJ53LT4:6:1116:37955:24232,LH00995:41:23WJ53LT4:6:1144:39436:5442,LH00995:41:23WJ53LT4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ZNF814

-/-

chr19:57874500

chr19:57874583

CDS

duplication/ITD

352

375

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(192),low_entropy(1)

CCAGAGACTGCTCACTAGAGAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAgCATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA

QRLLTREECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKKH

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TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

3067

258

medium

stop-codon

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(44)

GGAATCTGCCTGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGT

LH00995:41:23WJ53LT4:1:1191:22527:25087,LH00995:41:23WJ53LT4:1:1191:22536:25073,LH00995:41:23WJ53LT4:1:1202:27899:13149,LH00995:41:23WJ53LT4:1:1353:23223:12868,LH00995:41:23WJ53LT4:1:1363:22018:26614,LH00995:41:23WJ53LT4:1:1366:31985:12210,LH00995:41:23WJ53LT4:1:1490:39759:14494,LH00995:41:23WJ53LT4:1:2164:49953:7292,LH00995:41:23WJ53LT4:1:2270:26451:8090,LH00995:41:23WJ53LT4:1:2378:21686:25059,LH00995:41:23WJ53LT4:2:1208:3265:17450,LH00995:41:23WJ53LT4:2:1268:11145:2429,LH00995:41:23WJ53LT4:2:1268:11153:2443,LH00995:41:23WJ53LT4:2:1388:47008:17380,LH00995:41:23WJ53LT4:2:2124:25707:20897,LH00995:41:23WJ53LT4:2:2267:47801:3200,LH00995:41:23WJ53LT4:2:2458:32656:9646,LH00995:41:23WJ53LT4:2:2458:32664:9660,LH00995:41:23WJ53LT4:3:1106:22746:11117,LH00995:41:23WJ53LT4:3:1106:22754:11103,LH00995:41:23WJ53LT4:3:1203:51684:28814,LH00995:41:23WJ53LT4:3:1224:5514:24541,LH00995:41:23WJ53LT4:3:1237:14567:10682,LH00995:41:23WJ53LT4:3:1316:30626:11705,LH00995:41:23WJ53LT4:3:1327:14057:19356,LH00995:41:23WJ53LT4:3:1342:16962:8076,LH00995:41:23WJ53LT4:3:1416:27794:4307,LH00995:41:23WJ53LT4:3:1493:1631:1645,LH00995:41:23WJ53LT4:3:1493:1647:1645,LH00995:41:23WJ53LT4:3:2202:26581:4923,LH00995:41:23WJ53LT4:3:2335:29364:5428,LH00995:41:23WJ53LT4:3:2362:26297:7656,LH00995:41:23WJ53LT4:3:2385:37801:20827,LH00995:41:23WJ53LT4:3:2388:25391:16371,LH00995:41:23WJ53LT4:3:2398:31556:5554,LH00995:41:23WJ53LT4:3:2444:43650:11733,LH00995:41:23WJ53LT4:4:1489:25043:27623,LH00995:41:23WJ53LT4:4:2152:16209:7334,LH00995:41:23WJ53LT4:4:2196:23345:7530,LH00995:41:23WJ53LT4:4:2425:24631:11944,LH00995:41:23WJ53LT4:5:1112:5255:7109,LH00995:41:23WJ53LT4:5:1147:2553:1280,LH00995:41:23WJ53LT4:5:1150:17342:19300,LH00995:41:23WJ53LT4:5:1150:17358:19300,LH00995:41:23WJ53LT4:5:1174:47493:23966,LH00995:41:23WJ53LT4:5:1267:50033:18389,LH00995:41:23WJ53LT4:5:1269:42154:5778,LH00995:41:23WJ53LT4:5:1298:14721:19300,LH00995:41:23WJ53LT4:5:1337:9697:5386,LH00995:41:23WJ53LT4:5:1337:9705:5372,LH00995:41:23WJ53LT4:5:1416:1938:29361,LH00995:41:23WJ53LT4:5:1481:49491:18992,LH00995:41:23WJ53LT4:5:2109:32284:28450,LH00995:41:23WJ53LT4:5:2260:48157:6311,LH00995:41:23WJ53LT4:5:2416:20578:2653,LH00995:41:23WJ53LT4:6:2239:9147:28758,LH00995:41:23WJ53LT4:1:1151:28935:24218,LH00995:41:23WJ53LT4:1:1151:46344:28338,LH00995:41:23WJ53LT4:1:1210:27163:21010,LH00995:41:23WJ53LT4:1:1224:14179:20323,LH00995:41:23WJ53LT4:1:1383:21541:19370,LH00995:41:23WJ53LT4:1:2147:36879:25031,LH00995:41:23WJ53LT4:1:2205:1024:13821,LH00995:41:23WJ53LT4:1:2376:6315:1715,LH00995:41:23WJ53LT4:1:2428:12116:22074,LH00995:41:23WJ53LT4:2:2202:40876:19931,LH00995:41:23WJ53LT4:3:1241:30763:13933,LH00995:41:23WJ53LT4:3:1410:3500:7151,LH00995:41:23WJ53LT4:3:2147:49038:25073,LH00995:41:23WJ53LT4:3:2230:40625:23252,LH00995:41:23WJ53LT4:3:2344:24388:13597,LH00995:41:23WJ53LT4:4:1377:45179:26432,LH00995:41:23WJ53LT4:4:2129:23442:28884,LH00995:41:23WJ53LT4:4:2256:51190:10276,LH00995:41:23WJ53LT4:4:2380:29817:25353,LH00995:41:23WJ53LT4:5:1436:2812:27735,LH00995:41:23WJ53LT4:5:2340:39209:4994,LH00995:41:23WJ53LT4:5:2493:43950:4293,LH00995:41:23WJ53LT4:5:2493:43966:4293,LH00995:41:23WJ53LT4:6:1172:44354:25984,LH00995:41:23WJ53LT4:6:1405:13135:26250

TMED7

TICAM2

-/-

chr5:115620435

chr5:115581315

CDS/splice-site

5'UTR/splice-site

deletion/read-through

3749

258

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)

TTTCAAGTTGGAGAAGACCCAtCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCC

FQVGEDPsLFPSENRVSALTQ|iekkc*

LH00995:41:23WJ53LT4:1:1290:36596:9660,LH00995:41:23WJ53LT4:5:2198:42510:5722

AC079781.4

ASNS

-/-

chr7:97928082

chr7:97872449

exon

5'UTR

deletion/read-through

393

medium

|Asparagine_synthase(100%),Glutamine_amidotransferase_domain(100%)

ENSG00000284627.1

ENSG00000070669.17

ENST00000641908.1

ENST00000394308.8

upstream

downstream

duplicates(11)

GCCGGCCCAGGAGGGAGGAGGACGACGTCCCTCCCGAAGAGAAGAGGCTGCGGCTCTTGCTGGAGGGGGGAAGCGCACAGCCCCAGGACTGCGAGGACGGGGAGGACGCGCCGCGGCCGGGCAGGGAGGAGACCGGCACCCAGACAGGTGGCGACGGCAGAGGA|GAGCCAGGTCGGTATAAGCGCCAGCGGCCTCGCCGCCCGTCAAGCTGTCCACATCCCTGGCCTCAGCCCGCCACATCACCCTGACCTGCTTACGCCCAG___ATTTTCTTCAATCACATCTGAAT...___AAAGCTTATAGCTTCATTGCACCATGTGTGGCATTTGGGCGCTGTTTGGCAGTGATGATTGCCTTTCTGTTCAGTGTCTGAGTGCTATG

LH00995:41:23WJ53LT4:1:1187:16630:15881,LH00995:41:23WJ53LT4:1:1279:25141:22719,LH00995:41:23WJ53LT4:1:1332:11339:15124,LH00995:41:23WJ53LT4:1:2267:44718:6913,LH00995:41:23WJ53LT4:2:2125:37057:6395,LH00995:41:23WJ53LT4:2:2143:26378:17633,LH00995:41:23WJ53LT4:2:2154:23660:26965,LH00995:41:23WJ53LT4:2:2154:23676:26965,LH00995:41:23WJ53LT4:3:2189:20578:14816,LH00995:41:23WJ53LT4:4:1327:7618:14648,LH00995:41:23WJ53LT4:4:1352:36499:25830,LH00995:41:23WJ53LT4:4:1385:10748:4461,LH00995:41:23WJ53LT4:4:2355:29250:14732,LH00995:41:23WJ53LT4:4:2356:48958:8875,LH00995:41:23WJ53LT4:5:1192:45414:25269,LH00995:41:23WJ53LT4:5:1269:26136:12280,LH00995:41:23WJ53LT4:5:2133:51336:14256,LH00995:41:23WJ53LT4:5:2136:39516:13877,LH00995:41:23WJ53LT4:5:2232:18102:29417,LH00995:41:23WJ53LT4:5:2303:31604:23798,LH00995:41:23WJ53LT4:6:1404:37276:10080,LH00995:41:23WJ53LT4:6:2373:5053:12756,LH00995:41:23WJ53LT4:1:1498:41191:24961,LH00995:41:23WJ53LT4:1:2478:21791:27091,LH00995:41:23WJ53LT4:2:1112:11703:25451,LH00995:41:23WJ53LT4:2:2107:44338:16287,LH00995:41:23WJ53LT4:2:2433:31192:18964,LH00995:41:23WJ53LT4:3:1457:26128:1504,LH00995:41:23WJ53LT4:4:1173:42170:5750,LH00995:41:23WJ53LT4:4:1423:16913:14830,LH00995:41:23WJ53LT4:4:1476:4527:21150,LH00995:41:23WJ53LT4:4:2365:5150:7460,LH00995:41:23WJ53LT4:4:2424:30351:26727,LH00995:41:23WJ53LT4:4:2424:30359:26713,LH00995:41:23WJ53LT4:4:2460:15335:11089,LH00995:41:23WJ53LT4:5:2136:9575:1420,LH00995:41:23WJ53LT4:5:2229:25399:11761,LH00995:41:23WJ53LT4:5:2272:40455:1855,LH00995:41:23WJ53LT4:6:1124:30537:24583,LH00995:41:23WJ53LT4:6:1491:4972:11691

PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

213

4823

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(69),low_entropy(1),mismatches(1)

AGCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

LH00995:41:23WJ53LT4:1:1473:49847:8370,LH00995:41:23WJ53LT4:1:1495:27802:23322,LH00995:41:23WJ53LT4:1:2136:11153:8076,LH00995:41:23WJ53LT4:1:2345:30706:18908,LH00995:41:23WJ53LT4:2:1164:45681:10682,LH00995:41:23WJ53LT4:2:1404:27115:15152,LH00995:41:23WJ53LT4:2:1459:6339:21626,LH00995:41:23WJ53LT4:2:1484:38068:21318,LH00995:41:23WJ53LT4:2:1487:44217:15265,LH00995:41:23WJ53LT4:2:2102:3645:24078,LH00995:41:23WJ53LT4:2:2337:47647:25017,LH00995:41:23WJ53LT4:2:2390:1291:14200,LH00995:41:23WJ53LT4:2:2431:31006:25451,LH00995:41:23WJ53LT4:2:2464:4406:12112,LH00995:41:23WJ53LT4:3:1203:50139:17703,LH00995:41:23WJ53LT4:3:1447:35116:2079,LH00995:41:23WJ53LT4:3:2139:36798:12028,LH00995:41:23WJ53LT4:3:2141:33595:4853,LH00995:41:23WJ53LT4:3:2141:38052:6297,LH00995:41:23WJ53LT4:3:2155:21007:14606,LH00995:41:23WJ53LT4:3:2174:21799:21808,LH00995:41:23WJ53LT4:3:2178:19283:11425,LH00995:41:23WJ53LT4:3:2268:27090:4181,LH00995:41:23WJ53LT4:4:1148:12318:11299,LH00995:41:23WJ53LT4:4:1148:6671:15699,LH00995:41:23WJ53LT4:4:1296:46498:23252,LH00995:41:23WJ53LT4:4:1357:28150:11705,LH00995:41:23WJ53LT4:4:1479:15886:18207,LH00995:41:23WJ53LT4:4:2108:39711:4909,LH00995:41:23WJ53LT4:4:2222:48577:23013,LH00995:41:23WJ53LT4:4:2307:50495:21038,LH00995:41:23WJ53LT4:5:1244:35140:4167,LH00995:41:23WJ53LT4:5:1248:20918:13723,LH00995:41:23WJ53LT4:5:1388:5231:5274,LH00995:41:23WJ53LT4:5:2111:34986:10010,LH00995:41:23WJ53LT4:5:2139:34711:14270,LH00995:41:23WJ53LT4:5:2216:33506:11229,LH00995:41:23WJ53LT4:5:2241:28207:5078,LH00995:41:23WJ53LT4:5:2287:30577:24709,LH00995:41:23WJ53LT4:5:2379:43537:3270,LH00995:41:23WJ53LT4:5:2481:3783:7726,LH00995:41:23WJ53LT4:5:2489:13103:6941,LH00995:41:23WJ53LT4:6:1138:30197:27329,LH00995:41:23WJ53LT4:6:1293:32972:26586,LH00995:41:23WJ53LT4:6:1407:18466:7628,LH00995:41:23WJ53LT4:6:2120:34371:29179,LH00995:41:23WJ53LT4:6:2191:44783:7334,LH00995:41:23WJ53LT4:6:2231:42850:18894,LH00995:41:23WJ53LT4:6:2296:30561:8146,LH00995:41:23WJ53LT4:6:2296:30569:8132,LH00995:41:23WJ53LT4:6:2360:49686:10528,LH00995:41:23WJ53LT4:6:2364:19858:11131,LH00995:41:23WJ53LT4:6:2369:50786:27651,LH00995:41:23WJ53LT4:1:1364:25691:26418,LH00995:41:23WJ53LT4:1:1364:25699:26404,LH00995:41:23WJ53LT4:1:1372:8063:11832,LH00995:41:23WJ53LT4:1:2101:41863:14830,LH00995:41:23WJ53LT4:1:2102:42688:25311,LH00995:41:23WJ53LT4:1:2292:29533:9253,LH00995:41:23WJ53LT4:1:2319:27220:22761,LH00995:41:23WJ53LT4:1:2319:50098:4545,LH00995:41:23WJ53LT4:1:2364:14098:25507,LH00995:41:23WJ53LT4:1:2479:4479:17394,LH00995:41:23WJ53LT4:1:2483:3128:25872,LH00995:41:23WJ53LT4:2:1102:51603:5582,LH00995:41:23WJ53LT4:2:1128:30642:19636,LH00995:41:23WJ53LT4:2:1177:5045:7306,LH00995:41:23WJ53LT4:2:1252:24607:6044,LH00995:41:23WJ53LT4:2:1357:15926:8244,LH00995:41:23WJ53LT4:2:2112:50867:22635,LH00995:41:23WJ53LT4:2:2258:18741:24022,LH00995:41:23WJ53LT4:2:2317:6890:25017,LH00995:41:23WJ53LT4:2:2346:7019:13107,LH00995:41:23WJ53LT4:2:2460:19526:2653,LH00995:41:23WJ53LT4:3:1135:50195:19931,LH00995:41:23WJ53LT4:3:1241:42833:3957,LH00995:41:23WJ53LT4:3:1310:35383:23896,LH00995:41:23WJ53LT4:3:1327:12787:11383,LH00995:41:23WJ53LT4:3:1361:23401:7067,LH00995:41:23WJ53LT4:3:1466:16606:14494,LH00995:41:23WJ53LT4:3:1467:4333:13275,LH00995:41:23WJ53LT4:3:1492:19097:28926,LH00995:41:23WJ53LT4:3:2373:27835:26909,LH00995:41:23WJ53LT4:4:1258:41086:24162,LH00995:41:23WJ53LT4:4:1372:49224:4433,LH00995:41:23WJ53LT4:4:2181:1291:18712,LH00995:41:23WJ53LT4:4:2287:25674:21934,LH00995:41:23WJ53LT4:4:2364:3500:18165,LH00995:41:23WJ53LT4:5:1293:39460:2822,LH00995:41:23WJ53LT4:5:1345:2602:14003,LH00995:41:23WJ53LT4:5:2117:16581:26278,LH00995:41:23WJ53LT4:5:2328:38853:14998,LH00995:41:23WJ53LT4:6:1179:2658:5638,LH00995:41:23WJ53LT4:6:1268:51522:22509,LH00995:41:23WJ53LT4:6:2338:17140:18417

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

213

4823

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(69),low_entropy(1),mismatches(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

213

4823

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(69),low_entropy(1),mismatches(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

213

4823

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(69),low_entropy(1),mismatches(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

213

4823

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(69),low_entropy(1),mismatches(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

213

4823

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(69),low_entropy(1),mismatches(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

213

4823

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(69),low_entropy(1),mismatches(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

213

4823

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(69),low_entropy(1),mismatches(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

213

4823

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(69),low_entropy(1),mismatches(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

213

4823

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(69),low_entropy(1),mismatches(1)

AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

165

4823

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(33),mismappers(2),mismatches(1)

GGTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTG

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

LH00995:41:23WJ53LT4:1:1429:50414:18347,LH00995:41:23WJ53LT4:1:2160:1558:20323,LH00995:41:23WJ53LT4:1:2225:48577:15419,LH00995:41:23WJ53LT4:1:2225:48585:15433,LH00995:41:23WJ53LT4:2:1129:40059:5344,LH00995:41:23WJ53LT4:2:1172:20877:15587,LH00995:41:23WJ53LT4:2:2106:47857:25269,LH00995:41:23WJ53LT4:2:2350:5272:21738,LH00995:41:23WJ53LT4:3:1154:17738:2836,LH00995:41:23WJ53LT4:3:1347:48593:14354,LH00995:41:23WJ53LT4:3:2114:27017:13191,LH00995:41:23WJ53LT4:3:2117:15845:12084,LH00995:41:23WJ53LT4:3:2153:45155:1729,LH00995:41:23WJ53LT4:3:2159:8063:8384,LH00995:41:23WJ53LT4:4:1139:39395:6100,LH00995:41:23WJ53LT4:4:1161:29388:5386,LH00995:41:23WJ53LT4:4:2232:34048:22145,LH00995:41:23WJ53LT4:4:2448:38020:27287,LH00995:41:23WJ53LT4:5:1333:3087:26334,LH00995:41:23WJ53LT4:5:1457:31022:28674,LH00995:41:23WJ53LT4:5:1465:30545:8006,LH00995:41:23WJ53LT4:5:2315:22487:9519,LH00995:41:23WJ53LT4:5:2319:41830:13681,LH00995:41:23WJ53LT4:6:1288:47768:9562,LH00995:41:23WJ53LT4:6:1491:35916:16722,LH00995:41:23WJ53LT4:6:2279:33837:11551,LH00995:41:23WJ53LT4:6:2302:11776:28884,LH00995:41:23WJ53LT4:6:2373:35116:16932,LH00995:41:23WJ53LT4:6:2373:41830:24246,LH00995:41:23WJ53LT4:1:1193:48941:29109,LH00995:41:23WJ53LT4:1:1193:48949:29095,LH00995:41:23WJ53LT4:1:1355:49734:25157,LH00995:41:23WJ53LT4:1:2245:5846:3592,LH00995:41:23WJ53LT4:1:2414:28182:18011,LH00995:41:23WJ53LT4:2:1346:35124:9379,LH00995:41:23WJ53LT4:2:1388:19728:27441,LH00995:41:23WJ53LT4:2:2459:7165:7978,LH00995:41:23WJ53LT4:3:1144:7375:2093,LH00995:41:23WJ53LT4:3:1228:21249:9253,LH00995:41:23WJ53LT4:3:1438:27204:25592,LH00995:41:23WJ53LT4:3:2262:27640:9533,LH00995:41:23WJ53LT4:3:2278:42599:24204,LH00995:41:23WJ53LT4:3:2312:17059:1266,LH00995:41:23WJ53LT4:4:1417:12642:5442,LH00995:41:23WJ53LT4:4:1438:38748:2513,LH00995:41:23WJ53LT4:4:2202:17318:2583,LH00995:41:23WJ53LT4:4:2232:29372:20211,LH00995:41:23WJ53LT4:4:2286:39387:5890,LH00995:41:23WJ53LT4:4:2389:21848:28170,LH00995:41:23WJ53LT4:4:2495:26564:20141,LH00995:41:23WJ53LT4:5:2117:42445:28870,LH00995:41:23WJ53LT4:5:2205:7812:2149,LH00995:41:23WJ53LT4:6:1158:38481:5498,LH00995:41:23WJ53LT4:6:1403:26233:6283

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

165

4823

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(33),mismappers(2),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

165

4823

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(33),mismappers(2),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

165

4823

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(33),mismappers(2),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

165

4823

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(33),mismappers(2),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

165

4823

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(33),mismappers(2),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

165

4823

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(33),mismappers(2),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

165

4823

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(33),mismappers(2),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

165

4823

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(33),mismappers(2),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

165

4823

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(33),mismappers(2),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

397

203

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(16),mismatches(2)

TTATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGG

LH00995:41:23WJ53LT4:1:2195:39047:3256,LH00995:41:23WJ53LT4:4:1166:4584:21752,LH00995:41:23WJ53LT4:1:1120:26969:12126,LH00995:41:23WJ53LT4:1:1143:27713:12266,LH00995:41:23WJ53LT4:1:1147:37122:7179,LH00995:41:23WJ53LT4:1:1367:46984:26755,LH00995:41:23WJ53LT4:1:1422:34897:3382,LH00995:41:23WJ53LT4:1:1448:36596:8118,LH00995:41:23WJ53LT4:1:1461:15473:14298,LH00995:41:23WJ53LT4:1:1479:46733:22901,LH00995:41:23WJ53LT4:1:2189:48132:25830,LH00995:41:23WJ53LT4:1:2229:37227:5848,LH00995:41:23WJ53LT4:1:2378:19356:7320,LH00995:41:23WJ53LT4:1:2421:38902:25872,LH00995:41:23WJ53LT4:2:1341:16339:7614,LH00995:41:23WJ53LT4:2:1479:10441:17380,LH00995:41:23WJ53LT4:3:1161:41717:1322,LH00995:41:23WJ53LT4:3:2107:51651:6395,LH00995:41:23WJ53LT4:3:2119:10174:15489,LH00995:41:23WJ53LT4:3:2147:29800:26783,LH00995:41:23WJ53LT4:3:2345:8079:3592,LH00995:41:23WJ53LT4:3:2427:24404:19847,LH00995:41:23WJ53LT4:4:1181:38408:19216,LH00995:41:23WJ53LT4:4:1213:37162:4643,LH00995:41:23WJ53LT4:4:1235:25294:21668,LH00995:41:23WJ53LT4:4:1427:34743:6339,LH00995:41:23WJ53LT4:5:1147:5458:25199,LH00995:41:23WJ53LT4:5:1244:40261:16456,LH00995:41:23WJ53LT4:5:1345:16557:25956,LH00995:41:23WJ53LT4:5:1403:38788:29039,LH00995:41:23WJ53LT4:5:2129:18571:21682,LH00995:41:23WJ53LT4:5:2396:40390:6114,LH00995:41:23WJ53LT4:6:1215:25391:5834,LH00995:41:23WJ53LT4:6:1454:44451:17128,LH00995:41:23WJ53LT4:6:2379:33368:7123

AC092807.3

DDAH1

-/-

chr1:85496166

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

1310

medium

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(26),mismatches(1)

CCCAGCCTCCCGTCGCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG___TTTCATCTGTATGGAAAAGGAGCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATACAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAACGA

LH00995:41:23WJ53LT4:1:1402:15206:25522,LH00995:41:23WJ53LT4:1:1447:9033:22565,LH00995:41:23WJ53LT4:1:2331:44702:6745,LH00995:41:23WJ53LT4:2:1296:21500:25998,LH00995:41:23WJ53LT4:2:1441:25213:1490,LH00995:41:23WJ53LT4:2:1449:19130:8160,LH00995:41:23WJ53LT4:2:1477:14421:28310,LH00995:41:23WJ53LT4:2:1493:7440:14087,LH00995:41:23WJ53LT4:3:1302:24841:11944,LH00995:41:23WJ53LT4:3:1417:11768:27245,LH00995:41:23WJ53LT4:3:2137:18563:24975,LH00995:41:23WJ53LT4:3:2331:26589:18305,LH00995:41:23WJ53LT4:3:2331:26605:18305,LH00995:41:23WJ53LT4:3:2396:23167:28408,LH00995:41:23WJ53LT4:4:1137:34751:8398,LH00995:41:23WJ53LT4:4:2103:4463:21318,LH00995:41:23WJ53LT4:4:2182:27665:20869,LH00995:41:23WJ53LT4:4:2203:3912:24148,LH00995:41:23WJ53LT4:4:2367:50673:7081,LH00995:41:23WJ53LT4:5:1107:19631:15026,LH00995:41:23WJ53LT4:5:1128:31111:7446,LH00995:41:23WJ53LT4:5:1228:14122:19048,LH00995:41:23WJ53LT4:5:1240:43586:29613,LH00995:41:23WJ53LT4:5:1439:50195:19146,LH00995:41:23WJ53LT4:6:1201:42275:12434,LH00995:41:23WJ53LT4:6:1201:42283:12420,LH00995:41:23WJ53LT4:6:1248:42429:11019,LH00995:41:23WJ53LT4:6:1466:10748:23770,LH00995:41:23WJ53LT4:6:1475:7359:4895,LH00995:41:23WJ53LT4:6:1487:20278:8945,LH00995:41:23WJ53LT4:1:1407:36070:15419,LH00995:41:23WJ53LT4:3:1326:47226:15040,LH00995:41:23WJ53LT4:3:2196:1591:1546,LH00995:41:23WJ53LT4:3:2202:15983:22131,LH00995:41:23WJ53LT4:3:2474:3556:1112,LH00995:41:23WJ53LT4:3:2474:3565:1098,LH00995:41:23WJ53LT4:4:1309:43464:2752,LH00995:41:23WJ53LT4:4:2188:14664:20155,LH00995:41:23WJ53LT4:5:2157:47946:14718,LH00995:41:23WJ53LT4:6:1153:12334:8413,LH00995:41:23WJ53LT4:6:1153:12342:8398,LH00995:41:23WJ53LT4:6:2220:11800:7292,LH00995:41:23WJ53LT4:6:2368:25213:1687

AC092807.3

DDAH1

-/-

chr1:85577984

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

1310

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(1)

ATATACCATGTGCTGTTGCGCCTGCTAGTAATCGACGACATTAGGCAAGAGAAACAGCGGCTCCTCAAGTCCTGCCCAAAGACCGTCCAGAAACCCCAGCCTCCCGTCGCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAACG

LH00995:41:23WJ53LT4:2:2239:41604:22145,LH00995:41:23WJ53LT4:4:2291:34234:5708,LH00995:41:23WJ53LT4:6:2368:25213:1687

AC092807.3

DDAH1

-/-

chr1:85488291

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

1310

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000488557.6

ENST00000284031.13

upstream

downstream

CTGGTGCCCTGATCTTGGACTTTCAGCCTCCAGAACT|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAACG

LH00995:41:23WJ53LT4:6:2263:20489:17661,LH00995:41:23WJ53LT4:6:2368:25213:1687

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

4823

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(34),mismappers(1),mismatches(1)

GTCTCCCTCACCGCGGACTCGAGGAAGAGTCACCTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGT?CGCCAGTG

VSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA?AS

LH00995:41:23WJ53LT4:1:1101:34986:13373,LH00995:41:23WJ53LT4:1:1497:2189:23910,LH00995:41:23WJ53LT4:1:2166:22002:9323,LH00995:41:23WJ53LT4:1:2195:30893:20603,LH00995:41:23WJ53LT4:1:2224:33587:5876,LH00995:41:23WJ53LT4:1:2289:41232:20015,LH00995:41:23WJ53LT4:1:2396:1906:17086,LH00995:41:23WJ53LT4:2:1215:46587:15335,LH00995:41:23WJ53LT4:2:2297:26540:18613,LH00995:41:23WJ53LT4:3:1463:49904:1771,LH00995:41:23WJ53LT4:3:1467:8985:15839,LH00995:41:23WJ53LT4:3:2198:44540:9239,LH00995:41:23WJ53LT4:3:2453:24299:5428,LH00995:41:23WJ53LT4:3:2489:33344:1729,LH00995:41:23WJ53LT4:4:1257:37251:15194,LH00995:41:23WJ53LT4:4:1257:37259:15180,LH00995:41:23WJ53LT4:4:2303:2400:4657,LH00995:41:23WJ53LT4:5:1212:7027:15307,LH00995:41:23WJ53LT4:5:1212:7035:15321,LH00995:41:23WJ53LT4:5:1493:21411:7235,LH00995:41:23WJ53LT4:5:2220:43456:13247,LH00995:41:23WJ53LT4:5:2304:34444:15180,LH00995:41:23WJ53LT4:6:1167:41660:1701,LH00995:41:23WJ53LT4:6:1174:4414:17535,LH00995:41:23WJ53LT4:6:1344:26702:20267,LH00995:41:23WJ53LT4:6:2210:20966:25802,LH00995:41:23WJ53LT4:6:2210:20974:25788,LH00995:41:23WJ53LT4:6:2232:12229:4335,LH00995:41:23WJ53LT4:6:2232:12245:4335,LH00995:41:23WJ53LT4:1:1168:15133:17661,LH00995:41:23WJ53LT4:1:1372:3767:13275,LH00995:41:23WJ53LT4:1:1460:20084:19062,LH00995:41:23WJ53LT4:2:2493:43157:17773,LH00995:41:23WJ53LT4:3:1122:35180:25255,LH00995:41:23WJ53LT4:3:2192:26799:20883,LH00995:41:23WJ53LT4:3:2285:30035:28955,LH00995:41:23WJ53LT4:3:2445:4875:2303,LH00995:41:23WJ53LT4:3:2481:27058:23630,LH00995:41:23WJ53LT4:4:2113:23037:26278,LH00995:41:23WJ53LT4:4:2113:23037:26306,LH00995:41:23WJ53LT4:4:2113:23045:26292,LH00995:41:23WJ53LT4:4:2446:48108:24302,LH00995:41:23WJ53LT4:5:1136:24938:17408,LH00995:41:23WJ53LT4:5:2173:4090:4531,LH00995:41:23WJ53LT4:5:2253:35310:24415,LH00995:41:23WJ53LT4:6:1121:38449:9253,LH00995:41:23WJ53LT4:6:1223:19227:8469,LH00995:41:23WJ53LT4:6:1228:28021:4923,LH00995:41:23WJ53LT4:6:1274:42113:7838

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

4823

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(34),mismappers(1),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA?AS

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

4823

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(34),mismappers(1),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA?AS

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

4823

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(34),mismappers(1),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA?AS

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

4823

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(34),mismappers(1),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA?AS

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

4823

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(34),mismappers(1),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA?AS

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

4823

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(34),mismappers(1),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA?AS

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

4823

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(34),mismappers(1),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA?AS

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

4823

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(34),mismappers(1),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA?AS

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

158

4823

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(34),mismappers(1),mismatches(1)

VSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA?AS

PDE11A

-/-

chr2:177629456

chr2:177629458

CDS

duplication/ITD

medium

in-frame

3'5'-cyclic_nucleotide_phosphodiesterase(100%),GAF_domain(100%)|

ENSG00000128655.18

ENST00000286063.11

upstream

downstream

duplicates(6)

GTGAAGGTCAACGTGAAACTGAAGCCGATGCTAGATTCAGTAGCTACAAACAGAAGTAAGTGGGAAGAGCTACACCAAAAACGACTGCTGGCCTCAACTGC|ct|CaTCcTCCTCCCCTGCCAGTGTTATGGTAGCCAAGGAAGACAGGAACTAAACCTCCAGGTCAGCTGCAGCTGCAAAATGACTACAGCCTGAAGGGCCATTTTCAGTCCAGCAATGTCATCCTTTTGTTCTTTTAGCT

VKVNVKLKPMLDSVATNRSKWEELHQKRLLASTa|sSSSPASVMVAKEDRN*

LH00995:41:23WJ53LT4:1:2169:28579:5974,LH00995:41:23WJ53LT4:1:2283:48391:8202,LH00995:41:23WJ53LT4:2:1282:48205:17016,LH00995:41:23WJ53LT4:3:1112:25755:22215,LH00995:41:23WJ53LT4:3:1141:1987:1757,LH00995:41:23WJ53LT4:3:1192:39339:11832,LH00995:41:23WJ53LT4:4:2106:36345:2247,LH00995:41:23WJ53LT4:6:2389:50066:6675,LH00995:41:23WJ53LT4:1:1114:37955:4643,LH00995:41:23WJ53LT4:1:2168:3670:26558,LH00995:41:23WJ53LT4:1:2284:15069:4349,LH00995:41:23WJ53LT4:4:1226:37130:13135,LH00995:41:23WJ53LT4:4:1446:20003:23910,LH00995:41:23WJ53LT4:4:1446:20012:23924,LH00995:41:23WJ53LT4:4:2423:24534:21892,LH00995:41:23WJ53LT4:5:2141:41709:11369,LH00995:41:23WJ53LT4:6:1232:32025:15307,LH00995:41:23WJ53LT4:6:2228:4657:4503

PCDHGA3

PCDHGA8

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(16),mismappers(1)

AGGTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAA

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

LH00995:41:23WJ53LT4:1:1353:47979:25479,LH00995:41:23WJ53LT4:1:2125:25286:2513,LH00995:41:23WJ53LT4:1:2128:15894:28506,LH00995:41:23WJ53LT4:1:2482:43650:7053,LH00995:41:23WJ53LT4:2:1176:3006:28436,LH00995:41:23WJ53LT4:2:2159:19680:5358,LH00995:41:23WJ53LT4:2:2340:38635:11930,LH00995:41:23WJ53LT4:3:1224:11735:12952,LH00995:41:23WJ53LT4:3:1463:38788:28590,LH00995:41:23WJ53LT4:4:1133:43060:21164,LH00995:41:23WJ53LT4:4:1275:21217:15503,LH00995:41:23WJ53LT4:4:1355:31386:23336,LH00995:41:23WJ53LT4:4:2125:28061:13569,LH00995:41:23WJ53LT4:4:2310:5474:20939,LH00995:41:23WJ53LT4:4:2339:40746:17689,LH00995:41:23WJ53LT4:4:2494:48577:10290,LH00995:41:23WJ53LT4:4:2494:48585:10304,LH00995:41:23WJ53LT4:5:1369:37429:18221,LH00995:41:23WJ53LT4:5:1464:15400:25858,LH00995:41:23WJ53LT4:5:2433:19008:12014,LH00995:41:23WJ53LT4:6:1407:25011:19076,LH00995:41:23WJ53LT4:6:2129:10328:27217,LH00995:41:23WJ53LT4:2:1457:14292:4825,LH00995:41:23WJ53LT4:3:1441:11032:13751,LH00995:41:23WJ53LT4:3:2295:43440:2934,LH00995:41:23WJ53LT4:4:1116:3767:13275,LH00995:41:23WJ53LT4:5:1468:42259:20925,LH00995:41:23WJ53LT4:6:2250:25553:23910

PCDHGA3

PCDHGB6

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(16),mismappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGA11

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(16),mismappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGC4

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(16),mismappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGC5

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(16),mismappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGA12

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(16),mismappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGA9

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(16),mismappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGA10

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(16),mismappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGC3

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(16),mismappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

2125

3165

medium

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

duplicates(6)

AGGTGACTTGATGGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGA

GDLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQR

LH00995:41:23WJ53LT4:5:2147:5215:18137,LH00995:41:23WJ53LT4:1:1166:46555:1855,LH00995:41:23WJ53LT4:1:1331:19453:21584,LH00995:41:23WJ53LT4:1:1424:9867:9632,LH00995:41:23WJ53LT4:1:2151:12852:11972,LH00995:41:23WJ53LT4:1:2239:32761:12518,LH00995:41:23WJ53LT4:2:1114:19890:11383,LH00995:41:23WJ53LT4:2:2289:12051:24737,LH00995:41:23WJ53LT4:2:2382:8386:13681,LH00995:41:23WJ53LT4:2:2384:11954:29137,LH00995:41:23WJ53LT4:2:2491:12561:20435,LH00995:41:23WJ53LT4:3:1179:3791:6955,LH00995:41:23WJ53LT4:3:1473:13653:14704,LH00995:41:23WJ53LT4:4:1325:48051:2709,LH00995:41:23WJ53LT4:5:2274:40285:10472,LH00995:41:23WJ53LT4:6:1344:16978:21864,LH00995:41:23WJ53LT4:6:1489:47598:24204

PCDHGA3

PCDHGB7

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(16),mismappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

4952

4103

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(12)

ATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGT

IFVGNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:41:23WJ53LT4:1:1116:17107:12224,LH00995:41:23WJ53LT4:1:1428:9729:24947,LH00995:41:23WJ53LT4:1:2208:2901:8777,LH00995:41:23WJ53LT4:2:1188:29113:14830,LH00995:41:23WJ53LT4:2:1193:31693:24625,LH00995:41:23WJ53LT4:2:1313:38902:26965,LH00995:41:23WJ53LT4:2:1452:46644:20337,LH00995:41:23WJ53LT4:2:2307:27090:22761,LH00995:41:23WJ53LT4:3:1131:30601:19174,LH00995:41:23WJ53LT4:3:1177:28838:26236,LH00995:41:23WJ53LT4:3:1398:29986:18137,LH00995:41:23WJ53LT4:3:2233:44104:14844,LH00995:41:23WJ53LT4:4:1212:26403:19636,LH00995:41:23WJ53LT4:4:1425:51393:6114,LH00995:41:23WJ53LT4:6:1410:9907:20127,LH00995:41:23WJ53LT4:6:1492:4107:15797,LH00995:41:23WJ53LT4:1:1439:19923:7432,LH00995:41:23WJ53LT4:2:1285:8346:21458,LH00995:41:23WJ53LT4:3:1221:12342:2093,LH00995:41:23WJ53LT4:3:1250:40245:17689,LH00995:41:23WJ53LT4:3:1434:9826:11888,LH00995:41:23WJ53LT4:5:1339:37106:7544,LH00995:41:23WJ53LT4:6:1332:44476:1280

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

4952

3365

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(7)

TTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGCGGCTGCTATCGGTGCGGGAAAGAGG

FVGNVSAACTSQELRSLFERRGRVIECDVVK|gKRMHVQLSTSRLRTAPGMGDQSGCYRCGKE

LH00995:41:23WJ53LT4:1:1111:25246:10094,LH00995:41:23WJ53LT4:1:1126:36135:14718,LH00995:41:23WJ53LT4:1:1418:48189:1575,LH00995:41:23WJ53LT4:1:2330:27293:10052,LH00995:41:23WJ53LT4:4:2191:26815:4097,LH00995:41:23WJ53LT4:4:2343:51255:7081,LH00995:41:23WJ53LT4:5:2192:3467:16456,LH00995:41:23WJ53LT4:6:1256:48836:20071,LH00995:41:23WJ53LT4:6:2332:23409:25045,LH00995:41:23WJ53LT4:2:1485:11436:15489,LH00995:41:23WJ53LT4:4:1365:38578:1154

RBM14

RBM4

+/+

chr11:66624324

chr11:66652277

CDS/splice-site

deletion/read-through

4453

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)(1%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000393979.3

ENST00000578778.5

downstream

upstream

duplicates(3)

CGCGTTTGTTCACATGGAGAAGGAAGCAGATGCCAAAGCCGCAATCGCGCAGCTCAACGGtAAAGAAGTGAAGGGCAAGCGCATCAACGTGGAACTCTCCACCAAGG|TAGAGACGGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCTGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCCACCACACCTGGCTGAAATGAGGAAATTTTTAAAAGcGGC

AFVHMEKEADAKAAIAQLNGKEVKGKRINVELSTK|vETGFHRVNQDGLDLLTS*

LH00995:41:23WJ53LT4:1:1236:2707:27918,LH00995:41:23WJ53LT4:5:1246:1073:13541,LH00995:41:23WJ53LT4:5:1246:1081:13527,LH00995:41:23WJ53LT4:6:2349:42939:24120

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

4952

5067

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(307),read_through(293)

GGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGAC

PLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

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1599:24625,LH00995:41:23WJ53LT4:3:1249:44427:5344,LH00995:41:23WJ53LT4:3:1254:43594:7824,LH00995:41:23WJ53LT4:3:1261:45519:2303,LH00995:41:23WJ53LT4:3:1277:21233:3788,LH00995:41:23WJ53LT4:3:1281:21524:11803,LH00995:41:23WJ53LT4:3:1281:21532:11789,LH00995:41:23WJ53LT4:3:1281:21532:11817,LH00995:41:23WJ53LT4:3:1294:20537:20547,LH00995:41:23WJ53LT4:3:1297:27729:25550,LH00995:41:23WJ53LT4:3:1301:23231:25073,LH00995:41:23WJ53LT4:3:1312:15748:14522,LH00995:41:23WJ53LT4:3:1333:16072:13541,LH00995:41:23WJ53LT4:3:1333:16080:13527,LH00995:41:23WJ53LT4:3:1338:32810:10640,LH00995:41:23WJ53LT4:3:1341:36450:19917,LH00995:41:23WJ53LT4:3:1360:50389:4097,LH00995:41:23WJ53LT4:3:1365:47162:9407,LH00995:41:23WJ53LT4:3:1374:4511:22943,LH00995:41:23WJ53LT4:3:1374:4519:22929,LH00995:41:23WJ53LT4:3:1378:2440:18319,LH00995:41:23WJ53LT4:3:1389:43068:6213,LH00995:41:23WJ53LT4:3:1390:15740:22691,LH00995:41:23WJ53LT4:3:1411:48011:21836,LH00995:41:23WJ53LT4:3:1414:5563:17843,LH00995:41:23WJ53LT4:3:1423:19526:1336,LH00995:41:23WJ53LT4:3:1424:8734:28548,LH00995:41:23WJ53LT4:3:1430:24348:5596,LH00995:41:23WJ53LT4:3:1436:1162:24092,LH00995:41:23WJ53LT4:3:1436:1170:24106,LH00995:41:23WJ53LT4:3:1459:26556:18866,LH00995:41:23WJ53LT4:3:1468:52072:4265,LH00995:41:23WJ53LT4:3:1468:52080:4251,LH00995:41:23WJ53LT4:3:1486:11477:24667,LH00995:41:23WJ53LT4:3:2103:18288:26572,LH00995:41:23WJ53LT4:3:2103:18296:26558,LH00995:41:23WJ53LT4:3:2110:34323:6255,LH00995:41:23WJ53LT4:3:2124:39047:17689,LH00995:41:23WJ53LT4:3:2125:27212:14087,LH00995:41:23WJ53LT4:3:2134:30804:21934,LH00995:41:23WJ53LT4:3:2134:30812:21920,LH00995:41:23WJ53LT4:3:2137:4123:18011,LH00995:41:23WJ53LT4:3:2148:45576:10276,LH00995:41:23WJ53LT4:3:2153:24348:15124,LH00995:41:23WJ53LT4:3:2153:4293:8413,LH00995:41:23WJ53LT4:3:2156:40924:21864,LH00995:41:23WJ53LT4:3:2165:17738:1350,LH00995:41:23WJ53LT4:3:2166:22285:23097,LH00995:41:23WJ53LT4:3:2171:12674:16063,LH00995:41:23WJ53LT4:3:2176:14891:14886,LH00995:41:23WJ53LT4:3:2176:14907:14886,LH00995:41:23WJ53LT4:3:2178:38254:26881,LH00995:41:23WJ53LT4:3:2191:33222:2219,LH00995:41:23WJ53LT4:3:2193:19397:7838,LH00995:41:23WJ53LT4:3:2212:45179:16063,LH00995:41:23WJ53LT4:3:2213:40301:20505,LH00995:41:23WJ53LT4:3:2251:31944:29683,LH00995:41:23WJ53LT4:3:2252:19939:3760,LH00995:41:23WJ53LT4:3:2253:29493:25157,LH00995:41:23WJ53LT4:3:2256:41126:22411,LH00995:41:23WJ53LT4:3:2274:32535:9099,LH00995:41:23WJ53LT4:3:2284:1210:6969,LH00995:41:23WJ53LT4:3:2319:3403:6283,LH00995:41:23WJ53LT4:3:2330:9535:14662,LH00995:41:23WJ53LT4:3:2333:31111:13891,LH00995:41:23WJ53LT4:3:2333:32608:10682,LH00995:41:23WJ53LT4:3:2347:22471:12294,LH00995:41:23WJ53LT4:3:2358:25513:20841,LH00995:41:23WJ53LT4:3:2364:21896:8973,LH00995:41:23WJ53LT4:3:2382:51134:22929,LH00995:41:23WJ53LT4:3:2389:26500:16974,LH00995:41:23WJ53LT4:3:2408:18628:25760,LH00995:41:23WJ53LT4:3:2419:33214:13051,LH00995:41:23WJ53LT4:3:2421:12577:22088,LH00995:41:23WJ53LT4:3:2425:26694:29613,LH00995:41:23WJ53LT4:3:2427:18321:21108,LH00995:41:23WJ53LT4:3:2449:17698:23868,LH00995:41:23WJ53LT4:3:2453:48561:21948,LH00995:41:23WJ53LT4:3:2458:47429:14998,LH00995:41:23WJ53LT4:3:2482:21274:16217,LH00995:41:23WJ53LT4:3:2483:44985:17689,LH00995:41:23WJ53LT4:3:2484:1801:20127,LH00995:41:23WJ53LT4:3:2485:31693:12714,LH00995:41:23WJ53LT4:3:2486:9446:1504,LH00995:41:23WJ53LT4:3:2494:8508:1757,LH00995:41:23WJ53LT4:4:1102:36620:25844,LH00995:41:23WJ53LT4:4:1105:25513:15293,LH00995:41:23WJ53LT4:4:1111:42073:2275,LH00995:41:23WJ53LT4:4:1111:42081:2261,LH00995:41:23WJ53LT4:4:1131:46466:20897,LH00995:41:23WJ53LT4:4:1142:33562:8749,LH00995:41:23WJ53LT4:4:1155:20084:25143,LH00995:41:23WJ53LT4:4:1156:20909:13793,LH00995:41:23WJ53LT4:4:1166:2464:3088

RBM14

RBM4

+/+

chr11:66617550

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

5067

low

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000461478.1

ENST00000396053.9

downstream

upstream

duplicates(5),read_through(4)

GTCAGAGCAAGGGAAGAGGGAAAAGGTGGGGGCTGACGCCCCAAGGCCGCCCTCCTGTTCCCTCCCGATGAATGTGCTCAAGCGGAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGA

LH00995:41:23WJ53LT4:1:2224:35463:6857,LH00995:41:23WJ53LT4:1:2388:39274:11832,LH00995:41:23WJ53LT4:3:1176:17099:20057,LH00995:41:23WJ53LT4:4:1237:17229:6549,LH00995:41:23WJ53LT4:4:2248:18499:1603,LH00995:41:23WJ53LT4:5:1289:26136:13765,LH00995:41:23WJ53LT4:5:2480:7747:17899,LH00995:41:23WJ53LT4:5:2484:36361:23798,LH00995:41:23WJ53LT4:5:2484:36369:23784

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(31)

GAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG

SHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

LH00995:41:23WJ53LT4:1:1213:4891:1715,LH00995:41:23WJ53LT4:1:2120:30383:16834,LH00995:41:23WJ53LT4:1:2120:30391:16820,LH00995:41:23WJ53LT4:1:2138:47801:3508,LH00995:41:23WJ53LT4:1:2359:1170:15419,LH00995:41:23WJ53LT4:1:2366:41385:1953,LH00995:41:23WJ53LT4:2:1125:36952:23364,LH00995:41:23WJ53LT4:2:2375:17576:1743,LH00995:41:23WJ53LT4:2:2408:48674:24891,LH00995:41:23WJ53LT4:3:1176:21306:16273,LH00995:41:23WJ53LT4:3:1185:3055:10276,LH00995:41:23WJ53LT4:3:1256:17237:15110,LH00995:41:23WJ53LT4:3:1296:3079:12028,LH00995:41:23WJ53LT4:3:1315:29145:10402,LH00995:41:23WJ53LT4:3:2207:32745:25634,LH00995:41:23WJ53LT4:3:2370:6040:20267,LH00995:41:23WJ53LT4:4:1280:4187:25718,LH00995:41:23WJ53LT4:4:1280:4196:25732,LH00995:41:23WJ53LT4:4:2306:23676:29459,LH00995:41:23WJ53LT4:4:2311:22252:14886,LH00995:41:23WJ53LT4:5:1101:43351:25143,LH00995:41:23WJ53LT4:5:1101:43367:25143,LH00995:41:23WJ53LT4:5:1379:12431:12252,LH00995:41:23WJ53LT4:5:1463:49783:24092,LH00995:41:23WJ53LT4:5:2397:22600:1729,LH00995:41:23WJ53LT4:5:2437:35035:13037,LH00995:41:23WJ53LT4:6:1213:35334:6437,LH00995:41:23WJ53LT4:6:1264:35051:29655,LH00995:41:23WJ53LT4:6:1347:38384:21724,LH00995:41:23WJ53LT4:6:2334:23725:3620,LH00995:41:23WJ53LT4:6:2334:23733:3606,LH00995:41:23WJ53LT4:1:1105:28724:13737,LH00995:41:23WJ53LT4:1:1306:37882:26881,LH00995:41:23WJ53LT4:1:1306:37898:26881,LH00995:41:23WJ53LT4:2:1226:28789:1575,LH00995:41:23WJ53LT4:2:1497:19931:11789,LH00995:41:23WJ53LT4:2:1497:19939:11775,LH00995:41:23WJ53LT4:3:2340:3888:8356,LH00995:41:23WJ53LT4:4:1110:4325:6451,LH00995:41:23WJ53LT4:5:1263:18790:28702,LH00995:41:23WJ53LT4:5:2181:18450:21108

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(31)

SHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(31)

SHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(31)

SHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(31)

SHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(31)

SHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(31)

SHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(31)

SHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(31)

SHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

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(31)

SHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS

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

EZR

./-

-/-

chr4:189268998

chr6:158769418

intergenic

CDS/splice-site

translocation

30551

medium

|Ezrin/radixin/moesin_family_C_terminal(67%)

ENSG00000092820.18

ENST00000367075.4

upstream

downstream

duplicates(4)

GAGAGAGAGAGAGAGAGGAGCAGCTG|GCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGG___GCCAAAGAAGCCCAGGATGACCTGGTGAAG

LH00995:41:23WJ53LT4:1:1149:24186:6493,LH00995:41:23WJ53LT4:1:1149:24194:6507,LH00995:41:23WJ53LT4:1:1250:34444:29473,LH00995:41:23WJ53LT4:1:1341:33595:18053,LH00995:41:23WJ53LT4:2:1368:12116:2065,LH00995:41:23WJ53LT4:2:1458:11121:27161,LH00995:41:23WJ53LT4:3:2424:2116:19692,LH00995:41:23WJ53LT4:5:1223:4818:6913,LH00995:41:23WJ53LT4:5:1361:36887:27091,LH00995:41:23WJ53LT4:5:1434:15513:24204,LH00995:41:23WJ53LT4:5:2447:26443:24190,LH00995:41:23WJ53LT4:6:2137:2780:7362,LH00995:41:23WJ53LT4:6:2250:26500:21122,LH00995:41:23WJ53LT4:6:2325:32017:29277

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

159

4823

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(30),mismatches(1)

CAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTG

QPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

LH00995:41:23WJ53LT4:1:1134:7601:29361,LH00995:41:23WJ53LT4:1:1222:48140:11383,LH00995:41:23WJ53LT4:1:1431:26767:14242,LH00995:41:23WJ53LT4:1:2208:23498:29319,LH00995:41:23WJ53LT4:1:2208:23506:29305,LH00995:41:23WJ53LT4:1:2208:23514:29291,LH00995:41:23WJ53LT4:2:2175:14041:22215,LH00995:41:23WJ53LT4:2:2265:34582:16315,LH00995:41:23WJ53LT4:2:2413:25780:21136,LH00995:41:23WJ53LT4:2:2498:51587:27862,LH00995:41:23WJ53LT4:3:1139:40512:17563,LH00995:41:23WJ53LT4:3:1213:2901:15923,LH00995:41:23WJ53LT4:3:1275:32778:16610,LH00995:41:23WJ53LT4:3:2172:13014:14634,LH00995:41:23WJ53LT4:4:1317:44524:14396,LH00995:41:23WJ53LT4:4:1349:32454:3410,LH00995:41:23WJ53LT4:4:2177:38772:5302,LH00995:41:23WJ53LT4:4:2263:21031:9015,LH00995:41:23WJ53LT4:4:2498:42235:9085,LH00995:41:23WJ53LT4:5:1480:41312:19903,LH00995:41:23WJ53LT4:5:1480:41321:19917,LH00995:41:23WJ53LT4:5:1498:44686:15909,LH00995:41:23WJ53LT4:5:2256:43618:27932,LH00995:41:23WJ53LT4:5:2264:39136:6661,LH00995:41:23WJ53LT4:5:2360:35132:23490,LH00995:41:23WJ53LT4:6:1169:45980:25437,LH00995:41:23WJ53LT4:6:1188:2068:8427,LH00995:41:23WJ53LT4:6:1226:33684:5652,LH00995:41:23WJ53LT4:6:1471:52064:20561,LH00995:41:23WJ53LT4:1:1214:43262:3971,LH00995:41:23WJ53LT4:1:2398:27268:15755,LH00995:41:23WJ53LT4:2:1201:21589:7039,LH00995:41:23WJ53LT4:2:2137:7043:23406,LH00995:41:23WJ53LT4:3:1475:46903:19692,LH00995:41:23WJ53LT4:3:2477:39104:13611,LH00995:41:23WJ53LT4:4:1325:2691:8469,LH00995:41:23WJ53LT4:5:1331:33829:9351,LH00995:41:23WJ53LT4:5:2468:44136:14256,LH00995:41:23WJ53LT4:6:1345:29582:12308

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

159

4823

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(30),mismatches(1)

QPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHA6

PCDHAC1

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

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(16)

GGCAGAGGGTGTGCTCCGGGGAGGGCCCACCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGATCATGATGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGT

QRVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQ

LH00995:41:23WJ53LT4:1:1153:33813:14620,LH00995:41:23WJ53LT4:1:2161:21330:21668,LH00995:41:23WJ53LT4:1:2372:35253:16470,LH00995:41:23WJ53LT4:2:1206:48165:21990,LH00995:41:23WJ53LT4:3:1284:25221:16862,LH00995:41:23WJ53LT4:3:1444:42259:27063,LH00995:41:23WJ53LT4:4:1486:14421:15615,LH00995:41:23WJ53LT4:4:2383:22956:7418,LH00995:41:23WJ53LT4:4:2484:8710:5218,LH00995:41:23WJ53LT4:5:2414:32624:9618,LH00995:41:23WJ53LT4:6:1309:43675:17829,LH00995:41:23WJ53LT4:6:1309:43683:17815,LH00995:41:23WJ53LT4:6:1365:30035:15082,LH00995:41:23WJ53LT4:2:2411:4560:3130,LH00995:41:23WJ53LT4:2:2425:46126:7614,LH00995:41:23WJ53LT4:3:1230:28150:15657,LH00995:41:23WJ53LT4:3:1341:22252:17549,LH00995:41:23WJ53LT4:3:2355:44071:24569,LH00995:41:23WJ53LT4:3:2429:15643:13443,LH00995:41:23WJ53LT4:5:2253:34832:22018,LH00995:41:23WJ53LT4:6:1219:7488:28884,LH00995:41:23WJ53LT4:6:1471:20845:19118,LH00995:41:23WJ53LT4:6:2219:51498:12630,LH00995:41:23WJ53LT4:6:2334:51433:10753

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

159

4823

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(30),mismatches(1)

QPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHA6

PCDHA13

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

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(16)

QRVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQ

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

159

4823

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(30),mismatches(1)

QPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHA6

PCDHAC2

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

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(16)

QRVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQ

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

159

4823

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(30),mismatches(1)

QPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

159

4823

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(30),mismatches(1)

QPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

159

4823

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(30),mismatches(1)

QPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

159

4823

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(30),mismatches(1)

QPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

159

4823

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(30),mismatches(1)

QPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

159

4823

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(30),mismatches(1)

QPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

RPS5

ZNF71

+/+

chr19:58388245

chr19:56621268

CDS/splice-site

duplication

33111

560

medium

out-of-frame

Ribosomal_protein_S7p/S5e(1%)|KRAB_box(1%),Zinc_finger__C2H2_type(100%)

ENSG00000083845.9

ENSG00000197951.10

ENST00000596046.1

ENST00000599599.7

downstream

upstream

duplicates(10)

CAGGATGACCGAGTGGGAGACAGCAGCACCAGCGGTGGCAGAGACCCCAGACATCAAGCTCTTTGGGAAGTGGAGCACCGATGATGTGCAGATCAATGACATTTCCCTGCAG|ACTGGGAGACTAGACCTGAAATGAAAGAGTTGGATCCAAAGAATGACATTTCGGAAGACAAGCTCTCCGTTGTTGGGGAG...GGAATGGTGCCAGGGGTCCTGGCTCAGAAGGAGTGTGGGAACCAGGCAGCTGGCCAGAGAGGCCGCGGGGAGATGCAGGTGCAGAGTGGGAGCCATTGGGAATTCCCCAGGGGAACAAACTCTTAGGGGGCTCAGTACCCGCATGTCATGA

MTEWETAAPAVAETPDIKLFGKWSTDDVQINDISLQ|tgrldlk*

LH00995:41:23WJ53LT4:3:1390:27139:14774,LH00995:41:23WJ53LT4:3:1475:35738:8314,LH00995:41:23WJ53LT4:1:1147:28619:3046,LH00995:41:23WJ53LT4:1:1308:20659:18712,LH00995:41:23WJ53LT4:3:2309:12884:21248,LH00995:41:23WJ53LT4:4:2168:12933:2948,LH00995:41:23WJ53LT4:4:2226:20699:17773,LH00995:41:23WJ53LT4:4:2436:21913:22985,LH00995:41:23WJ53LT4:4:2437:31880:16371,LH00995:41:23WJ53LT4:5:1257:29525:27960,LH00995:41:23WJ53LT4:5:1286:18919:24611,LH00995:41:23WJ53LT4:5:2356:46579:12434,LH00995:41:23WJ53LT4:5:2359:11784:13625,LH00995:41:23WJ53LT4:6:2304:25286:17619,LH00995:41:23WJ53LT4:6:2328:41134:21192,LH00995:41:23WJ53LT4:1:2333:38230:20813,LH00995:41:23WJ53LT4:5:2243:32867:14690,LH00995:41:23WJ53LT4:6:1393:16978:19230

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

125

749

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(14),mismatches(1)

GCGGTGCTCTGCGCTGCCCACCGAGGGCGCGTGCGCTCCGGGCAAGCCCACGCTGGTGTGCTtCAGTGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGAGGCCGAGGGTGTGCTCTGGTGAGGGCCCACCCAAGACCGACCT?ATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAAC

RCSALPTEGACAPGKPTLVCfSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGV

LH00995:41:23WJ53LT4:1:1260:9446:8707,LH00995:41:23WJ53LT4:4:1445:8904:10094,LH00995:41:23WJ53LT4:6:1462:37114:15993,LH00995:41:23WJ53LT4:1:1287:19542:5540,LH00995:41:23WJ53LT4:1:1287:19550:5554,LH00995:41:23WJ53LT4:1:2480:28401:27413,LH00995:41:23WJ53LT4:2:1124:29428:24485,LH00995:41:23WJ53LT4:2:1280:5013:15629,LH00995:41:23WJ53LT4:2:1435:45883:12770,LH00995:41:23WJ53LT4:2:2244:32956:5260,LH00995:41:23WJ53LT4:3:1346:27179:24260,LH00995:41:23WJ53LT4:4:1430:30795:23546,LH00995:41:23WJ53LT4:4:2190:26686:10458,LH00995:41:23WJ53LT4:5:2126:12722:18501,LH00995:41:23WJ53LT4:5:2411:16452:3522,LH00995:41:23WJ53LT4:6:1218:51271:28800,LH00995:41:23WJ53LT4:6:2143:40512:4363,LH00995:41:23WJ53LT4:6:2151:48157:28394,LH00995:41:23WJ53LT4:3:2214:1809:27399,LH00995:41:23WJ53LT4:4:1332:10732:11047,LH00995:41:23WJ53LT4:4:1332:10740:11033,LH00995:41:23WJ53LT4:6:1210:12949:18249

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

125

749

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(14),mismatches(1)

RCSALPTEGACAPGKPTLVCfSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGV

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

125

749

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(14),mismatches(1)

RCSALPTEGACAPGKPTLVCfSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGV

RMND5A

ANAPC1

+/+

-/-

chr2:86741069

chr2:111822600

CDS/splice-site

inversion

2780

1550

medium

out-of-frame

|Anaphase-promoting_complex_sub_unit_1_C-terminal_domain_(100%)

ENSG00000153561.13

ENSG00000153107.13

ENST00000283632.5

ENST00000341068.8

downstream

duplicates(11),mismatches(1)

AGCGCGAGCTGGAGAAGGTGCTGCACAAGTTCTCgGGCTACGGGCAGCTGTGCGAGCGCGGCCTGGAGGAGCTCATCGACTACACCGGCGGtCTCAAGCACcAGATCCTGCAGAGCCACG___GCCAAGATGCTGAATTATCAGGGACACTTTCACTTGTTTTGACACAGTGCTGTAAAAGAATAAAGGATACTGTTCAAAAATTGGCCTCCGACCACAAAGACATCCACAGCAGTGTTTCTCGGGTTGGAAAAGCCATTGATAAG|GATTCACTTTAAGAGATTTGGAAACTCTTCCCTTTGGAATTGCTCTTCCCATCAGAGATGCAATTTATCACTGTCGTGAaCAGCCTGCCTCAGACTGGCCAGAAGCTGTCTGTCTCTTGATTGGACGTCAGGATCTTTCCAAGCAGGCCTGCGAAGGAAACTTACCCAAAGGGAAGTCT___GTGCTCTCATCAGATGTTCCTTCAGGAACAGAAAC

RELEKVLHKFSGYGQLCERGLEELIDYTGGLKHqILQSHGQDAELSGTLSLVLTQCCKRIKDTVQKLASDHKDIHSSVSRVGKAIDK|dsl*

LH00995:41:23WJ53LT4:1:1159:50260:7712,LH00995:41:23WJ53LT4:1:2164:48326:6633,LH00995:41:23WJ53LT4:1:2225:17908:28324,LH00995:41:23WJ53LT4:1:2460:42801:21108,LH00995:41:23WJ53LT4:2:2176:38343:26727,LH00995:41:23WJ53LT4:3:2393:33902:22397,LH00995:41:23WJ53LT4:4:1280:1113:8455,LH00995:41:23WJ53LT4:4:2366:27195:22159,LH00995:41:23WJ53LT4:5:1221:3904:26657,LH00995:41:23WJ53LT4:2:1284:51554:24162,LH00995:41:23WJ53LT4:2:1284:51579:24176,LH00995:41:23WJ53LT4:2:1284:51587:24162,LH00995:41:23WJ53LT4:2:1284:51603:24162,LH00995:41:23WJ53LT4:5:1425:7496:1911,LH00995:41:23WJ53LT4:5:1425:7512:1911,LH00995:41:23WJ53LT4:5:1425:7521:1897,LH00995:41:23WJ53LT4:5:1425:7529:1911,LH00995:41:23WJ53LT4:6:1123:33659:3676

PCDHA7

PCDHAC1

+/+

chr5:140836738

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

medium

in-frame

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

ENSG00000204963.6

ENSG00000248383.5

ENST00000356878.5

ENST00000253807.3

downstream

upstream

duplicates(11)

TTTGGTAAAGCCCACTCTGGTGTGCTCCAGCGCGGTGGGGAGCTGGTCATTCTCCCAGCAGAGGCGGCAGAGGGTGTGCTCTGGGGAGGGCCCACCCAAGACAGACCTCATGGCCTTCAGTCCCAGCCTTCCTCAGGGTCCATCCTCTACAGACAAT|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACtAGGCAACCCtAAACAATCCGGTCCCG___AACCTAAAAAGC

LVKPTLVCSSAVGSWSFSQQRRQRVCSGEGPPKTDLMAFSPSLPQGPSSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGlGNPKQSGPepkk

LH00995:41:23WJ53LT4:1:2172:46700:21780,LH00995:41:23WJ53LT4:1:2172:46717:21780,LH00995:41:23WJ53LT4:1:2258:29986:20099,LH00995:41:23WJ53LT4:2:1224:25052:27525,LH00995:41:23WJ53LT4:2:1246:31791:13611,LH00995:41:23WJ53LT4:2:2115:29622:6437,LH00995:41:23WJ53LT4:3:1109:28466:14942,LH00995:41:23WJ53LT4:3:2225:29703:15517,LH00995:41:23WJ53LT4:4:1159:6283:4153,LH00995:41:23WJ53LT4:4:2169:3265:12966,LH00995:41:23WJ53LT4:5:1256:47704:12588,LH00995:41:23WJ53LT4:5:1457:20586:8609,LH00995:41:23WJ53LT4:2:1350:17471:16357,LH00995:41:23WJ53LT4:5:1245:12892:23700,LH00995:41:23WJ53LT4:5:1245:12900:23686,LH00995:41:23WJ53LT4:6:2110:24890:25171

PCDHA7

PCDHA13

+/+

chr5:140836738

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

medium

in-frame

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

ENSG00000204963.6

ENSG00000239389.8

ENST00000356878.5

ENST00000409494.5

downstream

upstream

duplicates(11)

LVKPTLVCSSAVGSWSFSQQRRQRVCSGEGPPKTDLMAFSPSLPQGPSSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGlGNPKQSGPEPKK

PCDHA7

PCDHAC2

+/+

chr5:140836738

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

medium

in-frame

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

ENSG00000204963.6

ENSG00000243232.6

ENST00000356878.5

ENST00000289269.7

downstream

upstream

duplicates(11)

LVKPTLVCSSAVGSWSFSQQRRQRVCSGEGPPKTDLMAFSPSLPQGPSSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGlGNPKQSGPepkk

LINC02228

PTTG1IP

-/+

-/-

chr5:25144223

chr21:44855257

intron

translocation/3'-3'

9360

medium

ENSG00000251273.4

ENSG00000183255.12

ENST00000330938.8

downstream

duplicates(2)

GGGAGGAGGAGGAGGAGGAGGAAC|GGAGAGCAGAGATGAAGACAAGACATGATGAAATCAGAAAAAAATATG___GCCTGTTTAAAGAAGAAAACCCGTATGCTAGATTTGAAAACAACTAAAGCGCTCCAGCACATCAGTCCCGACGCTTCCTGTGAGGTGCACGCTCCGCAGCCCAGCCCAGCCGGGAGACCACGTG

LH00995:41:23WJ53LT4:2:1407:50074:5736,LH00995:41:23WJ53LT4:2:2422:15780:17773,LH00995:41:23WJ53LT4:3:1296:24817:4951,LH00995:41:23WJ53LT4:5:2253:6631:5848,LH00995:41:23WJ53LT4:6:2189:45398:22103,LH00995:41:23WJ53LT4:6:2189:45406:22088,LH00995:41:23WJ53LT4:6:2271:10368:7249

AC009166.3(5996),SOD1P2(5623)

CANX

./+

+/+

chr16:51101948

chr5:179726683

intergenic

CDS/splice-site

translocation

19540

medium

|Calreticulin_family(0%)

ENSG00000127022.16

ENST00000680406.1

downstream

upstream

duplicates(3)

AGAGAGAGAGAGAGAGAAACTTGAAG|AGAAACAGAAAAGTGATGCTGAAGAAGATGGTGGCACTGTCAGTCAAGAGGAGGAAGACAGAAAACCTAAAGCAGAGG

LH00995:41:23WJ53LT4:1:1224:9276:25115,LH00995:41:23WJ53LT4:1:1262:33044:14073,LH00995:41:23WJ53LT4:3:2263:33498:25171,LH00995:41:23WJ53LT4:4:1209:43327:11761,LH00995:41:23WJ53LT4:5:2305:24065:11747,LH00995:41:23WJ53LT4:5:2473:21079:15265,LH00995:41:23WJ53LT4:6:1216:27414:4489

UPK3B

PMS2P3

+/+

-/-

chr7:76511882

chr7:75514784

CDS/splice-site

exon/splice-site

inversion

1127

853

medium

out-of-frame

ENSG00000243566.7

ENSG00000127957.18

ENST00000334348.8

ENST00000394921.8

downstream

duplicates(6)

CGGACCAGCTGCCCTGTGaCGACCCCATGGCGGGCAGCGGAGGCGCCCCCGTGCTGCGGGTGGGCCATGACCACGGCTGCCACCAGCAGCCCTTCTGCAACGCGCCCCTCCCTGGCCCTGGACCCTATCG|TACAGAACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCCAGTGGTACTGAGTCTAAGCACTGCAGTGAAGGAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTG___ATCTAAAGCTTAAGGACT

DQLPCdDPMAGSGGAPVLRVGHDHGCHQQPFCNAPLPGPGPYr|tepakaikpidrksvhqicsgpvvlslstavkelvensldagatnidlklkd

LH00995:41:23WJ53LT4:1:1450:18110:22060,LH00995:41:23WJ53LT4:2:2389:41749:20827,LH00995:41:23WJ53LT4:3:2267:40479:24765,LH00995:41:23WJ53LT4:4:1179:9041:1140,LH00995:41:23WJ53LT4:4:1260:9551:22425,LH00995:41:23WJ53LT4:4:2384:18127:8833,LH00995:41:23WJ53LT4:4:2394:27309:21038,LH00995:41:23WJ53LT4:5:1114:43108:17633,LH00995:41:23WJ53LT4:5:2395:18151:24064,LH00995:41:23WJ53LT4:6:1119:19138:21542

UPK3B

PMS2P3

+/+

-/-

chr7:76511882

chr7:75514779

CDS/splice-site

exon/splice-site

inversion

1127

930

medium

out-of-frame

ENSG00000243566.7

ENSG00000127957.18

ENST00000334348.8

ENST00000418756.5

downstream

duplicates(8)

GCGGAGGCGCCCCCGTGCTGCGGGTGGGCCATGACCACGGCTGCCACCAGCAGCCCTTCTGCAACGCGCCCCTCCCTGGCCCTGGACCCTATCG|AACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCCAGTGGTACTGAGTCTAAGCACTGCAGTGAAGGAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTG___ATCTAAAGCTTAAGGAC

GGAPVLRVGHDHGCHQQPFCNAPLPGPGPYr|tc*

LH00995:41:23WJ53LT4:1:2322:7140:2051,LH00995:41:23WJ53LT4:2:2174:11711:28100,LH00995:41:23WJ53LT4:2:2425:48189:22845,LH00995:41:23WJ53LT4:4:1310:5385:7418,LH00995:41:23WJ53LT4:4:1314:28862:12854,LH00995:41:23WJ53LT4:4:2267:38813:4923,LH00995:41:23WJ53LT4:4:2421:13184:14368,LH00995:41:23WJ53LT4:5:1287:32462:19286,LH00995:41:23WJ53LT4:5:1350:21403:16974,LH00995:41:23WJ53LT4:5:2250:48213:5288,LH00995:41:23WJ53LT4:5:2250:48221:5274

FBXW11

NCL

-/+

-/-

chr5:171992467

chr2:231460563

intron

CDS/splice-site

translocation/3'-3'

6383

medium

|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)

ENSG00000072803.18

ENSG00000115053.17

ENST00000322723.9

downstream

duplicates(1),mismatches(5),multimappers(1)

GGGGGAGAGAGAGAGAGAGAGGAAGA|GCCTGTCAAAGAAGCACCTGGAAAACGAAAGAAGGAAATGGCCAAACAGAAAGCAGCTCCTGAAGCCAAGAAACAGAAAGTGGAAG___GCACAGAACCGACTACGGCTTTCAATCTCTTTGTTGGA

LH00995:41:23WJ53LT4:1:1131:41822:4923,LH00995:41:23WJ53LT4:2:1305:10765:19903,LH00995:41:23WJ53LT4:3:1397:48998:16203,LH00995:41:23WJ53LT4:3:2230:13895:19412,LH00995:41:23WJ53LT4:3:2230:13904:19426,LH00995:41:23WJ53LT4:3:2472:27673:3957,LH00995:41:23WJ53LT4:4:2132:12908:11509,LH00995:41:23WJ53LT4:6:1247:32947:27413,LH00995:41:23WJ53LT4:6:2153:36119:8721,LH00995:41:23WJ53LT4:6:2202:50163:20015

AC012101.2

KHDC4

+/+

-/-

chr18:75459150

chr1:155915964

intron

CDS/splice-site

translocation

3203

medium

ENSG00000287281.1

ENSG00000132680.11

ENST00000368320.7

downstream

duplicates(4)

GCGGGGGAGAGAGAGAGAGAGAGGGAcAG|GCAGTTGATGCCTCCACCAGCCTTTCCAGTGACTGGAATAAAAACAGAGTCCGATGAAAGGAATGGGTCTGGGACCTTAACAGGGAGCCATGGTGAGTGTGATATAGCTGGGGGAACAGGGGAGTGGCTAAGACTGGTCTAAAGCTATTAGTTTTC

LH00995:41:23WJ53LT4:1:2426:38214:11705,LH00995:41:23WJ53LT4:2:2240:43837:11832,LH00995:41:23WJ53LT4:3:2243:39185:3298,LH00995:41:23WJ53LT4:4:1220:21888:17170,LH00995:41:23WJ53LT4:4:2270:44969:3648,LH00995:41:23WJ53LT4:5:1212:42939:22579,LH00995:41:23WJ53LT4:6:1315:9179:24330,LH00995:41:23WJ53LT4:6:1381:22390:4727

KANSL1

MAPK8IP1P1(3041),AC005829.2(11466)

-/-

./+

chr17:46170855

chr17:46248085

CDS/splice-site

intergenic

inversion

1858

medium

out-of-frame

ENSG00000120071.15

ENST00000574590.6

upstream

CAACTTGAGGTGCAGTGAACAGGCATTTGATTCAGATGTCACTGACAGTAGTTCAGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT|AGACGTGGGAACAACGCAAGTCCCACTTACAACACTTAAGAACATTCTCATGATGACCGTTGAACTGGAAAAACTGTAA

NLRCSEQAFDSDVTDSSSGGESDIEEEELTRADPEQRHVPl|dvgttqvplttlknilmmtvelekl

LH00995:41:23WJ53LT4:2:1398:22560:4769,LH00995:41:23WJ53LT4:3:1482:13378:17535,LH00995:41:23WJ53LT4:4:2496:14656:18543,LH00995:41:23WJ53LT4:1:1290:8580:24358

SLC2A8

GARNL3

+/+

chr9:127400006

chr9:127388904

CDS/splice-site

duplication

3071

156

medium

in-frame

Sugar_(and_other)_transporter(32%)|

ENSG00000136856.18

ENSG00000136895.19

ENST00000373371.8

ENST00000435213.6

downstream

upstream

duplicates(7)

GGCAGGTCTACATCTCCGAAATCGCCTACCCAGCAGTCCGGGGGTTGCTCGGCTCCTGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAG|GTGAAATTCAATCAAAAAATCTGTACAAGATTCCACTTAGAAACCTCGTGGGCAGAAGCATCGAACGACCTCTGAAGTCACCCTTAGTCTCCAAGGTCATCA?CCCACCCACTCCCATCAGTGTGGGCCTTGCTGCCATTtCAGTCACGCACTCCTTGTCCCTGTCTCGCATG

qVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLA|gEIQSKNLYKIPLRNLVGRSIERPLKSPLVSKVI?PPTPISVGLAAIsVTHSLSLSR

LH00995:41:23WJ53LT4:1:2168:9681:10963,LH00995:41:23WJ53LT4:2:1412:26839:3578,LH00995:41:23WJ53LT4:3:2228:23345:28212,LH00995:41:23WJ53LT4:3:2311:12795:27595,LH00995:41:23WJ53LT4:4:1249:48213:21962,LH00995:41:23WJ53LT4:4:2159:42154:14073,LH00995:41:23WJ53LT4:5:1418:19097:4377,LH00995:41:23WJ53LT4:6:1318:2715:23756,LH00995:41:23WJ53LT4:6:2218:51393:19062,LH00995:41:23WJ53LT4:1:2329:1502:29305,LH00995:41:23WJ53LT4:2:1198:37551:21206

SLC2A8

GARNL3

+/+

chr9:127400006

chr9:127383438

CDS/splice-site

duplication

3071

148

low

in-frame

Sugar_(and_other)_transporter(32%)|CNH_domain(25%)

ENSG00000136856.18

ENSG00000136895.19

ENST00000373371.8

ENST00000435213.6

downstream

upstream

duplicates(6)

GGTTGCTCGGCTCCTGTGTGCAGCTAATGGTCGTCGTCGGCATCCTCCTGGCCTACCTGGCAG|ACAGTTGCATCTATAAAAAGGTTTGCCCCTTTAATGGTGGCTCTTTTTTGGTTCAACCTTCTGCGTCAGATTTCCAGTTCTGTTGGAACCAGGCTCCCTATGCAATTG___TCTGTGCTTTCC

LLGSCVQLMVVVGILLAYLA|dSCIYKKVCPFNGGSFLVQPSASDFQFCWNQAPYAIVCAF

LH00995:41:23WJ53LT4:1:2205:38263:4867,LH00995:41:23WJ53LT4:2:1381:10732:18838,LH00995:41:23WJ53LT4:2:2349:38578:21640,LH00995:41:23WJ53LT4:2:2372:15174:15965,LH00995:41:23WJ53LT4:2:2384:11113:13555,LH00995:41:23WJ53LT4:4:1228:26953:28884,LH00995:41:23WJ53LT4:4:2204:27721:2864,LH00995:41:23WJ53LT4:4:2421:40868:23812,LH00995:41:23WJ53LT4:5:1197:2578:4797

BMS1P7

PTPN20

-/-

+/+

chr10:48057386

chr10:46984230

exon/splice-site

CDS/splice-site

inversion

264

490

medium

|Protein-tyrosine_phosphatase(91%)

ENSG00000270025.2

ENSG00000204179.10

ENST00000602440.2

ENST00000395721.6

upstream

CTTCACCTGGCAGAAGTTCACCGAGATCAGAGGCCCcGTGACGATCGTGTCAG___GTAAAAAGCGCAGACTCACCATTATTGAcTGTGGGTGTGACATTAACATGATGATTGATCTGGCTGAAGTAGCAGATCTG|ATGATTCAACACGCGTTCCTCTTGGAAAAAGCAAGGACTACATCAATGCTAGTTATATTAGAATAGTCAATTGTGGAGAAGAGTATTTTTATgTCGCTACTCAAGGACCACTGCTGAGC

LH00995:41:23WJ53LT4:1:1397:43578:8553,LH00995:41:23WJ53LT4:2:2145:35852:11733,LH00995:41:23WJ53LT4:1:2260:32446:12364

PTPN20

BMS1P7

+/+

-/-

chr10:46965137

chr10:48060020

CDS/splice-site

intergenic

inversion

443

530

low

out-of-frame

Protein-tyrosine_phosphatase(3%)|

ENSG00000204179.10

ENSG00000270025.2

ENST00000374346.7

ENST00000602440.2

downstream

GGCCATTAATATTCAATTTTCATGAGCAGACAGCCATCAAGGATTGTTTGAAAATCCTTGAGGAAAAAACAGCAGCGTATGATATCATGCAGGAATTTATG|CTGCGGTAAATAGCCACTATGGAGACTAAGGACCAGAAGAAACACAGAAAGAAAAACAGTGGACCCAAAGCTGCAAAGAAAAAGAAGTGGCATCTGCAGGATCTCCAGCTAGGAGACGAAGAAAATGCCCAGAAGAG

PLIFNFHEQTAIKDCLKILEEKTAAYDIMQEFM|lr*

LH00995:41:23WJ53LT4:1:1285:48051:11509,LH00995:41:23WJ53LT4:3:1225:9964:6297

BMS1P7

PTPN20

-/-

+/+

chr10:48051657

chr10:46984230

exon/splice-site

CDS/splice-site

inversion

241

490

low

|Protein-tyrosine_phosphatase(91%)

ENSG00000270025.2

ENSG00000204179.10

ENST00000602440.2

ENST00000395721.6

upstream

duplicates(5),multimappers(3)

CAAATGTGACCGGCAGGTGTCACTTTATGGTTATTTAAGAGGAGCACACTTCAAAGATAAAAGCCAAATTCACATGCCAG|ATGATTCAACACGCGTTCCTCTTGGAAAAAGCAAGGACTACATCAATGCTAGTTATATTAGAATAGTCAATTGTGGAGAAGAGTATTTTTATgTCGCTACTCAAGGACCACTGCTGAGCAC

LH00995:41:23WJ53LT4:1:1410:34590:14087,LH00995:41:23WJ53LT4:1:2243:7480:9954,LH00995:41:23WJ53LT4:2:2392:48351:25928,LH00995:41:23WJ53LT4:3:1336:31346:24499,LH00995:41:23WJ53LT4:3:1354:30820:20141,LH00995:41:23WJ53LT4:3:1354:30828:20155,LH00995:41:23WJ53LT4:6:1424:17665:17843,LH00995:41:23WJ53LT4:6:2149:51061:15124

AL512598.1(24914),ENKUR(3552)

ATP5F1A

./-

-/-

chr10:24978427

chr18:46089899

intergenic

CDS/splice-site

translocation

7877

medium

|ATP_synthase_alpha/beta_chain__C_terminal_domain(100%),ATP_synthase_alpha/beta_family__nucleotide-binding_domain(100%)

ENSG00000152234.16

ENST00000589252.5

upstream

downstream

GGAGAGAGAGAGAGAGAGGACAGGAG|CCATTGTGGACGTTCCAGTTGGTGAGGAGCTGTTGGGTCGTGTAGTTGATGCCCTTGGTAATGCTATTGATGGAAAG___GGTCCAATTGGTTCCAAGACGCG

LH00995:41:23WJ53LT4:2:1412:25448:4951,LH00995:41:23WJ53LT4:4:1397:10757:13527,LH00995:41:23WJ53LT4:5:1192:5498:12322

PCDHGB3

PCDHGA8

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

medium

in-frame

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

ENSG00000262209.3

ENSG00000253767.3

ENST00000618934.1

ENST00000398604.3

downstream

upstream

duplicates(11)

CTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

APQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

LH00995:41:23WJ53LT4:3:2129:31119:29599,LH00995:41:23WJ53LT4:1:1225:5183:3732,LH00995:41:23WJ53LT4:1:2139:6364:4965,LH00995:41:23WJ53LT4:1:2396:5838:8455,LH00995:41:23WJ53LT4:2:1146:14041:24429,LH00995:41:23WJ53LT4:2:1146:14057:24429,LH00995:41:23WJ53LT4:2:1304:44459:23728,LH00995:41:23WJ53LT4:2:1459:33263:3270,LH00995:41:23WJ53LT4:3:2362:13086:8090,LH00995:41:23WJ53LT4:6:1111:14543:3242,LH00995:41:23WJ53LT4:6:1139:3047:20155,LH00995:41:23WJ53LT4:6:1461:34023:24653,LH00995:41:23WJ53LT4:6:1461:34031:24667,LH00995:41:23WJ53LT4:6:2153:10134:14410

PCDHGB3

PCDHGB6

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

medium

in-frame

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

ENSG00000262209.3

ENSG00000253305.2

ENST00000618934.1

ENST00000520790.1

downstream

upstream

duplicates(11)

CTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

APQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHA2

PCDHAC1

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

749

medium

in-frame

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

ENSG00000204969.7

ENSG00000248383.5

ENST00000520672.2

ENST00000253807.3

downstream

upstream

duplicates(9)

CTTATCTCAAGGTCCAGACTCCGCAGAAGAGAAACAGCTCTCAGAATCAGAATACGTAGGAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAtGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACA

LSQGPDSAEEKQLSESEYVGK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEA*

LH00995:41:23WJ53LT4:4:2345:31912:21864,LH00995:41:23WJ53LT4:6:2138:38894:28436,LH00995:41:23WJ53LT4:1:2394:4624:21178,LH00995:41:23WJ53LT4:2:1287:51918:17422,LH00995:41:23WJ53LT4:3:2220:9106:13835,LH00995:41:23WJ53LT4:3:2275:51223:29697,LH00995:41:23WJ53LT4:3:2275:51231:29683,LH00995:41:23WJ53LT4:4:1348:14559:21290,LH00995:41:23WJ53LT4:4:1348:14575:21290,LH00995:41:23WJ53LT4:4:1348:14591:21290,LH00995:41:23WJ53LT4:5:1405:22010:2752,LH00995:41:23WJ53LT4:6:1244:48043:5694

SLFN11

SLFN12

-/-

chr17:35353336

chr17:35433062

CDS/splice-site

5'UTR

duplication

1041

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(6),mismatches(1)

GTATGAGATATTCTCCAGAAGCCTCCGCAAGAACAGAGAGTTGTTTGTCCACGGCTTACCTGGCTCAGGGAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACGTTTGTGAAAACCAGCCTCTGAGGAACTTTATCAG|AAAATACACATGGGTGAAAAAGAAACGAGAGCTCCCTAGAGATCACTCAGAGCTGTTTTCGTGGGTTTTTAACTTCCAGTTGCTCAAGGGTCCACGCTGGCATCTGGGG

YEIFSRSLRKNRELFVHGLPGSGKTIMAMKIMEKIRNVFHCEAHRILYVCENQPLRNFIr|kytwvkkkrelprdhselfswvfnfqllkgprwhl

LH00995:41:23WJ53LT4:1:2248:41596:18796,LH00995:41:23WJ53LT4:2:1169:11339:3102,LH00995:41:23WJ53LT4:2:1190:44435:15194,LH00995:41:23WJ53LT4:3:1365:32316:26152,LH00995:41:23WJ53LT4:4:1322:17334:6927,LH00995:41:23WJ53LT4:6:1341:34436:15559,LH00995:41:23WJ53LT4:6:2235:29420:11271,LH00995:41:23WJ53LT4:1:1105:25642:9800,LH00995:41:23WJ53LT4:1:2436:46854:20505,LH00995:41:23WJ53LT4:4:1403:3993:27960

EIF3E

EIF3H

-/-

chr8:108248613

chr8:116726172

CDS/splice-site

duplication

19717

10308

medium

in-frame

eIF3_subunit_6_N_terminal_domain(19%)|JAB1/Mov34/MPN/PAD-1_ubiquitin_protease(89%)

ENSG00000104408.11

ENSG00000147677.11

ENST00000678042.1

ENST00000276682.8

upstream

downstream

duplicates(5)

CGGAGTACGACTTGACTACTCGCATCGCGCACTTTTTGGATCGGCATCTAGTCTTTCCGCTTCTTGAATTTCTCTCTGTAAAGGAG|GTGGTATTAAAGATAATCAAACATTATCAAGAAGAAGGACAAGGAACTGAAGTTGTTCAAGGAGTGCTTTTGGGTCTGGTTGTA

EYDLTTRIAHFLDRHLVFPLLEFLSVKE|VVLKIIKHYQEEGQGTEVVQGVLLGLV

LH00995:41:23WJ53LT4:1:1171:43464:24190,LH00995:41:23WJ53LT4:2:2304:21710:9828,LH00995:41:23WJ53LT4:3:2219:46595:1981,LH00995:41:23WJ53LT4:4:2359:29566:5134,LH00995:41:23WJ53LT4:1:2492:30027:20954,LH00995:41:23WJ53LT4:3:1262:16258:17843,LH00995:41:23WJ53LT4:3:1402:41596:18824,LH00995:41:23WJ53LT4:4:1124:33206:10682

E2F3

CDKAL1

+/+

chr6:20403832

chr6:21198021

CDS/splice-site

deletion

710

354

medium

in-frame

|TRAM_domain(98%)

ENSG00000112242.15

ENSG00000145996.11

ENST00000535432.2

ENST00000274695.8

downstream

upstream

duplicates(3)

CCCTCGCCCTGCGCCGCCGGTCTGTTCGGCCCTCCGGGCCCCCTCTCCAGCCGGCCCCCCACCTCCCCCCGGAGCCAGGCTGGTTTCGGAAATGCCCTTACAGCAGCAG|ATTGGTGAAAGACAACAAGTGTTAGTAACAGAAGAATCTTTTGATTCCAAGTTTTATGTTGCACACAATCAATTCTATGAGCAG___GTTTTAGTGCCAAAGAACCCTGCGTTCATGGGGAAGATGGTTGAAGTGGACATCTATG

MPLQQQ|IGERQQVLVTEESFDSKFYVAHNQFYEQVLVPKNPAFMGKMVEVDIY

LH00995:41:23WJ53LT4:2:2353:48990:25381,LH00995:41:23WJ53LT4:5:2247:4139:6437,LH00995:41:23WJ53LT4:6:2333:36491:20771,LH00995:41:23WJ53LT4:1:1209:45754:16245,LH00995:41:23WJ53LT4:2:1420:47202:18838,LH00995:41:23WJ53LT4:4:2340:4754:12602

E2F3

CDKAL1

+/+

chr6:20402625

chr6:21198021

CDS/splice-site

deletion

354

low

in-frame

|TRAM_domain(98%)

ENSG00000112242.15

ENSG00000145996.11

ENST00000346618.8

ENST00000274695.8

downstream

upstream

duplicates(4)

CCCCAGTGCCCCCGGCGCGGAGCAGACCGCCGGCAGCCTCCTCTACACCACGCCGCACGGACCCTCCAGCAGAGCCGGGCTGCTGCAGCAGCCACCAGCGCTGGGACGCGGCGGCAGCGGCGGCGGCGGCGGCCCTCCG|ATTGGTGAAAGACAACAAGTGTTAGTAACAGAAGAATCTTTTGATTCCAAGTTTTATGTTGCACACAATCAATTCTATGAGCAGGT

PSAPGAEQTAGSLLYTTPHGPSSRAGLLQQPPALGRGGSGGGGGPP|IGERQQVLVTEESFDSKFYVAHNQFYEQ

LH00995:41:23WJ53LT4:2:2316:34590:25353,LH00995:41:23WJ53LT4:2:2403:43254:2695,LH00995:41:23WJ53LT4:3:1395:3823:8328,LH00995:41:23WJ53LT4:4:2160:1396:7404,LH00995:41:23WJ53LT4:4:2371:44848:24120,LH00995:41:23WJ53LT4:6:2248:18426:2766

E2F3

CDKAL1

+/+

chr6:20402625

chr6:20758595

CDS/splice-site

deletion/read-through

765

low

in-frame

|Radical_SAM_superfamily(100%),TRAM_domain(100%)

ENSG00000112242.15

ENSG00000145996.11

ENST00000346618.8

ENST00000274695.8

downstream

upstream

duplicates(4)

CTCACCACGAACACTTCCACCACCTCCTGTTCCTCCTCCCTCCAAAGCGGCGCCGTAGCCGCCGGCtCCCTCCTCCCCAGTGCCCCCGGCGCGGAGCAGACCGCCGGCAGCCTCCTCTACACCACGCCGCACGGACCCTCCAGCAGAGCCGGGCTGCTGCAGCAaCCACCAGCGCTGGGACGCGGCGGCAGCGGCGGCGGCGGCGGCCCTCCG|GTTCAGCAGATAGATCGTGTGGTAGAAGTTGTGGAGGAGACAATTAAAG___GTCACTCTGTGAGACTGCTGGGTCAGAAAAAGGATAATGG

LTTNTSTTSCSSSLQSGAVAAGsLLPSAPGAEQTAGSLLYTTPHGPSSRAGLLQQPPALGRGGSGGGGGPP|VQQIDRVVEVVEETIKGHSVRLLGQKKDN

LH00995:41:23WJ53LT4:4:2289:14729:10823,LH00995:41:23WJ53LT4:5:1239:25723:20617,LH00995:41:23WJ53LT4:5:1239:25731:20631,LH00995:41:23WJ53LT4:6:1317:18248:13975,LH00995:41:23WJ53LT4:6:2381:35811:8973

PCDHA2

PCDHA13

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

749

medium

in-frame

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

ENSG00000204969.7

ENSG00000239389.8

ENST00000520672.2

ENST00000289272.3

downstream

upstream

duplicates(9)

LSQGPDSAEEKQLSESEYVGK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEA*

PCDHA2

PCDHAC2

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

749

medium

in-frame

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

ENSG00000204969.7

ENSG00000243232.6

ENST00000520672.2

ENST00000289269.7

downstream

upstream

duplicates(9)

LSQGPDSAEEKQLSESEYVGK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEA*

PCDHGB3

PCDHGA11

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

medium

in-frame

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

ENSG00000262209.3

ENSG00000253873.6

ENST00000618934.1

ENST00000398587.7

downstream

upstream

duplicates(11)

CTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

APQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGC4

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

medium

in-frame

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

ENSG00000262209.3

ENSG00000242419.5

ENST00000618934.1

ENST00000306593.1

downstream

upstream

duplicates(11)

CTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

APQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

POLR2J

AC139887.5

-/-

-/+

chr7:102474361

chr4:846243

CDS/splice-site

exon

translocation/5'-5'

5073

medium

out-of-frame

RNA_polymerase_Rpb3/Rpb11_dimerisation_domain(100%)|

ENSG00000005075.15

ENSG00000286205.1

ENST00000292614.9

upstream

duplicates(3)

CTACAAAGTCCCCCACCCCTTGGAGCACAAGATCATCATCCGAGTGCAGACCACGCCGGACTACAGCCCCCAGGAAGCCTTTACCAACGCCATCACCGACCTCATCAGTGAGCTGTCCCTGCTGGAGGAGCGCTTTCGG|ACGTGCCTGCTTCCCCTTCGCCTTCCG

YKVPHPLEHKIIIRVQTTPDYSPQEAFTNAITDLISELSLLEERFR|tcllplrl

LH00995:41:23WJ53LT4:3:2422:13216:27063,LH00995:41:23WJ53LT4:4:1310:22285:29179,LH00995:41:23WJ53LT4:4:1452:42744:7922,LH00995:41:23WJ53LT4:4:1481:20869:7838,LH00995:41:23WJ53LT4:4:2495:40026:3382,LH00995:41:23WJ53LT4:5:2477:15651:8861

PCDHGB3

PCDHGC5

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

medium

in-frame

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

ENSG00000262209.3

ENSG00000240764.4

ENST00000618934.1

ENST00000252087.3

downstream

upstream

duplicates(11)

CTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

APQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGA12

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

medium

in-frame

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

ENSG00000262209.3

ENSG00000253159.3

ENST00000618934.1

ENST00000252085.4

downstream

upstream

duplicates(11)

CTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

APQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGA9

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

medium

in-frame

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

ENSG00000262209.3

ENSG00000261934.2

ENST00000618934.1

ENST00000573521.1

downstream

upstream

duplicates(11)

CTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

APQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGA10

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

medium

in-frame

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

ENSG00000262209.3

ENSG00000253846.2

ENST00000618934.1

ENST00000398610.2

downstream

upstream

duplicates(11)

CTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

APQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

PCDHGB3

PCDHGC3

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

medium

in-frame

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

ENSG00000262209.3

ENSG00000240184.7

ENST00000618934.1

ENST00000308177.5

downstream

upstream

duplicates(11)

CTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

APQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

AGAP4

BMS1P7

-/-

chr10:45841653

chr10:48060020

CDS/splice-site

intergenic

duplication

2409

530

medium

out-of-frame

ENSG00000188234.14

ENSG00000270025.2

ENST00000616763.5

ENST00000602440.2

upstream

downstream

duplicates(2),multimappers(1)

GTTTAACCTTTCTGCCAATCCAGAGGCAAGCACAATATTCCAGAGGAACTCTCAAACAGATG___CTTTGGAGTTTAACCCTTCTGCCAATCCAGAGGCAAGCACAATATTCCAGAGGAACTCTCAAACAGATG___TTGTAGAAATAAGAAGAAGCAACTGTACAAACCAT|CTGCGGTAAATAGCCACTATGGAGACTAAGGACCAGAAGAAACACAGAAAGAAA

FNLSANPEASTIFQRNSQTDALEFNPSANPEASTIFQRNSQTDVVEIRRSNCTNH|lr*

LH00995:41:23WJ53LT4:3:1193:35795:9786,LH00995:41:23WJ53LT4:3:1264:47388:15208,LH00995:41:23WJ53LT4:3:2383:1550:28016,LH00995:41:23WJ53LT4:4:2242:9810:7796,LH00995:41:23WJ53LT4:5:2248:9260:12672,LH00995:41:23WJ53LT4:5:2248:9260:12672

AGAP4

BMS1P7

-/-

chr10:45828029

chr10:48052644

CDS/splice-site

exon/splice-site

duplication

1318

502

low

out-of-frame

ENSG00000188234.14

ENSG00000270025.2

ENST00000616763.5

ENST00000602440.2

upstream

downstream

mismatches(1)

TGAACAGTTACACTCATTTGCG|GTTGCCAAACTGTTCTACCTTTCTGGAATGGTGCATGGAGAATATCAAAACCAAGAAATCCACAATCTGGGCCATTTTATT

EQLHSFA|vaklfylsgmvhgeyqnqeihnlghf

LH00995:41:23WJ53LT4:4:1425:48998:1434

AGAP4

BMS1P7

-/-

chr10:45828029

chr10:48053735

CDS/splice-site

exon/splice-site

duplication

1318

421

low

out-of-frame

ENSG00000188234.14

ENSG00000270025.2

ENST00000616763.5

ENST00000602440.2

upstream

downstream

mismatches(1)

CAGCTcGTGTTCGACAATATTCCTTGATGACAGCACAGCCATCCAGCATTATCTTACAATGACAATAATATC___TGTGACCTTGGAGATACCTCATCATATCACACAAAG___AGATGCAGATAGATCTTTGAGCATACCTGATGAACAGTTACACTCATTTGCG|GTACTGATGCTTATAGATGCCAG

SsCSTIFLDDSTAIQHYLTMTIISVTLEIPHHITQRDADRSLSIPDEQLHSFA|vlmlida

LH00995:41:23WJ53LT4:4:1108:14575:13359

AGAP4

BMS1P7

-/-

chr10:45844326

chr10:48052644

CDS/splice-site

exon/splice-site

duplication

3572

502

low

out-of-frame

ENSG00000188234.14

ENSG00000270025.2

ENST00000616763.5

ENST00000602440.2

upstream

downstream

duplicates(1),multimappers(1)

TTGGAGTTTAACCtTTCTGCCAATCCAGAGGCAAGCACAATATTCCAGAGGAACTCTCAAACAGATG|GTTGCCAAACTGTTCTACCTTTCTGGAATGGTGCATGGAGAATATCAAAACCAAGAAATCCACAATCTGGGCCATTTTATTACAGTTATGAAGTTTAGGCCTCTCATGGCAAACTTTTCACCCTTATATCCTGGCAGACAG___GATGGAAGATTTGACAAACCCGGA

LEFNlSANPEASTIFQRNSQTD|gcqtvlpfwngawriskprnpqsgpfyysyev*

LH00995:41:23WJ53LT4:3:2274:4907:1883,LH00995:41:23WJ53LT4:3:1371:21646:7334

AGAP4

BMS1P7

-/-

chr10:45846687

chr10:48052644

CDS/splice-site

exon/splice-site

duplication

3127

502

low

out-of-frame

ENSG00000188234.14

ENSG00000270025.2

ENST00000616763.5

ENST00000602440.2

upstream

downstream

multimappers(2)

CCGGGAGATGCCTGAAG___CTTTGGAGTTTAACCTTTCTGCCAATCCAGAGGCAAGCACAATATTCCAGAGGAACTCTCAAACAGATG|GTTGCCAAACTGTTCTACCTTTCTGGAATGGTGCATGGAGAATATCAAAACCAAGAAATCCACAATCTGGGCCATTTTATTACAGTTATGAAGTTTAGGCCTCTCATGGCAAACTTTTCACCCTTATATCCTGGCAGACAG___GATGGAAGATTTGACAAACCCGGA

REMPEALEFNLSANPEASTIFQRNSQTD|gcqtvlpfwngawriskprnpqsgpfyysyev*

LH00995:41:23WJ53LT4:3:2274:4907:1883,LH00995:41:23WJ53LT4:3:1371:21646:7334

PCDHGB3

PCDHGB7

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4823

medium

in-frame

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

ENSG00000262209.3

ENSG00000254122.3

ENST00000618934.1

ENST00000398594.4

downstream

upstream

duplicates(11)

CTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGT

APQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ

AC007920.2(5742),RTP4(64710)

YBX3

./-

-/-

chr3:187303675

chr12:10713332

intergenic

CDS/splice-site

translocation

7869

medium

|'Cold-shock'_DNA-binding_domain(12%)

ENSG00000060138.13

ENST00000228251.9

upstream

downstream

GCGGGGGAGAGAGAGAGAGAGAAGG|GTGCAGAAGCTGCCAATGTGACTGGCCCGGATGGAGTTCCTGTGGAAGGGAGTCGTTACGCTGCAGATCGGCGCCGTTACAGACGTGGCTACTATGGAAGGCGCCGTGGCCCTCCCCG

LH00995:41:23WJ53LT4:2:1213:14316:22355,LH00995:41:23WJ53LT4:5:1457:36216:27413,LH00995:41:23WJ53LT4:5:2172:5822:13219

UPK3BL2(5847),SPDYE2(1536)

SPDYE1

./-

+/-

chr7:102549696

chr7:44000182

intergenic

intron

deletion

246

medium

ENSG00000136206.4

upstream

downstream

GCCCACTAGTGAGTTACACTCGAGAGGGATCATTTACAGAACAAAGCAGATTATAAAAATACAGCGATTGGCTG|AGCCACCGCACCCGGCCCCCTTCCTTCGTCTTAGTCAATCCTATCCCACCTCTTCTTCCACCAGTCCCCTCACCTGATGGTtCCAAC

LH00995:41:23WJ53LT4:3:1489:44678:14886,LH00995:41:23WJ53LT4:6:1322:4026:8034,LH00995:41:23WJ53LT4:1:2267:36831:6787

FBXO25

SEPTIN14

+/+

-/-

chr8:435707

chr7:55796092

CDS/splice-site

translocation

921

461

medium

in-frame

ENSG00000147364.17

ENSG00000154997.9

ENST00000382824.5

ENST00000388975.4

downstream

duplicates(3),mismappers(1),mismatches(8),multimappers(3)

CTTTAATCGGTTAGACTTCTCAAGTGCAATTCAAGATAcCCGAAGGTTCAATTATGTGGTCAAA|CTGCAGGACAAaTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCAGCTGAGCACtGATACAAAGAAAG

FNRLDFSSAIQDtRRFNYVVK|LQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQLSTDTKK

LH00995:41:23WJ53LT4:1:1252:46377:26685,LH00995:41:23WJ53LT4:1:1305:3904:14718,LH00995:41:23WJ53LT4:1:1445:50058:25381,LH00995:41:23WJ53LT4:1:2243:32041:3648,LH00995:41:23WJ53LT4:2:2331:8524:24176,LH00995:41:23WJ53LT4:3:1232:28360:16694,LH00995:41:23WJ53LT4:3:1244:12002:24064,LH00995:41:23WJ53LT4:3:2159:47542:18109,LH00995:41:23WJ53LT4:4:1140:13548:24218,LH00995:41:23WJ53LT4:4:2266:35730:9057,LH00995:41:23WJ53LT4:5:1450:51951:22355,LH00995:41:23WJ53LT4:5:2172:6008:15671,LH00995:41:23WJ53LT4:5:2206:22050:15853,LH00995:41:23WJ53LT4:5:2223:36216:3172,LH00995:41:23WJ53LT4:5:2327:32203:18361,LH00995:41:23WJ53LT4:5:2327:36806:6213,LH00995:41:23WJ53LT4:6:2278:32478:17689

DHRSX

AL683807.2(155007),DHRSX(295723)

-/-

./-

chrX:2243023

chrY:1923783

CDS/splice-site

intergenic

translocation

958

medium

out-of-frame

ENSG00000169084.15

ENST00000334651.11

upstream

downstream

duplicates(4),mismappers(1)

GCCTACGCCCAGAGCAAGCTGGCCCTTGTCCTGTTCACCTACCACCTCCAGCGGCTGCTGGCGGCTGAGGGAAGCCACGTGACCGCCAACGTGGTGGACCCCGGGGTGGTCAACACGGACGTCTACAAGCACGTGTTCTGGGCCACCCGTCTGGCGAAGAAGCTTCTCGGCTGGTTGCTTTTCAAG|GCTGGAGTGCAGTGGCGTGATCTCGGCTCACCACAACCTCCACCTGCCaGGTTCTGAACCCTGATACTGACAACAATGAATATATAAAG

AYAQSKLALVLFTYHLQRLLAAEGSHVTANVVDPGVVNTDVYKHVFWATRLAKKLLGWLLFK|agvqwrdlgspqppparf*

LH00995:41:23WJ53LT4:3:1248:16128:6521,LH00995:41:23WJ53LT4:3:1248:16136:6535,LH00995:41:23WJ53LT4:3:1432:41321:6829,LH00995:41:23WJ53LT4:6:1419:37162:25998,LH00995:41:23WJ53LT4:1:1152:44411:4755,LH00995:41:23WJ53LT4:1:1152:44427:4755,LH00995:41:23WJ53LT4:3:1275:38837:1294

GRM1

+/+

chr6:146399699

chr6:146398769

CDS/splice-site

duplication/non-canonical_splicing

3021

4298

low

out-of-frame

7_transmembrane_sweet-taste_receptor_of_3_GCPR(100%),Nine_Cysteines_Domain_of_family_3_GPCR(100%),Receptor_family_ligand_binding_region(100%)|7_transmembrane_sweet-taste_receptor_of_3_GCPR(100%),Homer-binding_domain_of_metabotropic_glutamate_receptor_(100%)

ENSG00000152822.14

ENST00000361719.6

downstream

upstream

duplicates(67),mismatches(1)

TGCCAAGCCTGAGAGGAATGTCCGCAGTGCCTTCACCACCTCTGATGTTGTCCGCATGCATGTTGGCGATGGCAAGCTGCCCTGCCGCTCCAACACTTTCCTCAACATCTTCCGAAGAAAGAAGGCAGGGGCAGGGAATGCCAA|GCTGTGAGCCCATTCCTGTGCGCTATCTTGAGTGGAGCAACATCGAATCCATTATAGCCATCGCCTTTTCATGCCTGGGAATCCTTGTTACCTTGTTTGTCACCCTAATCTTTGTACTGTACCGGGACACACCAGTGGTCAAA

AKPERNVRSAFTTSDVVRMHVGDGKLPCRSNTFLNIFRRKKAGAGNAk|l*

LH00995:41:23WJ53LT4:1:1114:28134:9127,LH00995:41:23WJ53LT4:1:1156:18248:10753,LH00995:41:23WJ53LT4:1:1198:23239:4797,LH00995:41:23WJ53LT4:1:1286:4487:13905,LH00995:41:23WJ53LT4:1:1314:49047:29571,LH00995:41:23WJ53LT4:1:1405:43812:7137,LH00995:41:23WJ53LT4:1:1405:43820:7123,LH00995:41:23WJ53LT4:1:1457:34023:6829,LH00995:41:23WJ53LT4:1:2253:15975:21276,LH00995:41:23WJ53LT4:1:2338:23684:3382,LH00995:41:23WJ53LT4:1:2450:33878:29585,LH00995:41:23WJ53LT4:1:2478:2675:26909,LH00995:41:23WJ53LT4:2:1125:4349:11005,LH00995:41:23WJ53LT4:2:1125:4357:11019,LH00995:41:23WJ53LT4:2:1192:6129:19889,LH00995:41:23WJ53LT4:2:1228:41232:14914,LH00995:41:23WJ53LT4:2:1323:4956:28450,LH00995:41:23WJ53LT4:2:1395:16784:3901,LH00995:41:23WJ53LT4:2:1435:13070:15321,LH00995:41:23WJ53LT4:2:1452:45479:24961,LH00995:41:23WJ53LT4:2:1464:44063:12392,LH00995:41:23WJ53LT4:2:2148:25529:14256,LH00995:41:23WJ53LT4:2:2229:36394:16568,LH00995:41:23WJ53LT4:2:2432:13596:10374,LH00995:41:23WJ53LT4:2:2446:39678:19174,LH00995:41:23WJ53LT4:3:1280:40770:1701,LH00995:41:23WJ53LT4:3:2116:22228:24485,LH00995:41:23WJ53LT4:3:2125:46272:11229,LH00995:41:23WJ53LT4:3:2205:2934:8553,LH00995:41:23WJ53LT4:3:2243:18992:3746,LH00995:41:23WJ53LT4:3:2248:16889:29697,LH00995:41:23WJ53LT4:3:2262:14009:24064,LH00995:41:23WJ53LT4:3:2411:20651:15951,LH00995:41:23WJ53LT4:4:1109:44662:3508,LH00995:41:23WJ53LT4:4:1149:29024:19104,LH00995:41:23WJ53LT4:4:1149:29032:19090,LH00995:41:23WJ53LT4:4:1234:19599:17436,LH00995:41:23WJ53LT4:4:1316:23555:7502,LH00995:41:23WJ53LT4:4:1356:51215:10178,LH00995:41:23WJ53LT4:4:1422:40447:23280,LH00995:41:23WJ53LT4:4:1432:12682:23223,LH00995:41:23WJ53LT4:4:2158:16031:13667,LH00995:41:23WJ53LT4:4:2283:31176:22495,LH00995:41:23WJ53LT4:4:2416:20262:19230,LH00995:41:23WJ53LT4:4:2416:20278:19230,LH00995:41:23WJ53LT4:5:1208:27859:12294,LH00995:41:23WJ53LT4:5:1239:31888:5288,LH00995:41:23WJ53LT4:5:1282:50220:8314,LH00995:41:23WJ53LT4:5:2116:23741:26572,LH00995:41:23WJ53LT4:5:2179:24639:1448,LH00995:41:23WJ53LT4:5:2179:24647:1434,LH00995:41:23WJ53LT4:5:2313:16290:7838,LH00995:41:23WJ53LT4:6:1183:33473:14340,LH00995:41:23WJ53LT4:6:2251:3670:8398,LH00995:41:23WJ53LT4:6:2267:27851:28506,LH00995:41:23WJ53LT4:6:2338:44783:2766,LH00995:41:23WJ53LT4:6:2381:48335:9393,LH00995:41:23WJ53LT4:6:2385:32163:28296,LH00995:41:23WJ53LT4:1:1119:18434:16512,LH00995:41:23WJ53LT4:1:1122:33684:24653,LH00995:41:23WJ53LT4:1:1254:21605:6395,LH00995:41:23WJ53LT4:1:1316:40965:13303,LH00995:41:23WJ53LT4:1:1343:41118:1546,LH00995:41:23WJ53LT4:1:2312:47340:23027,LH00995:41:23WJ53LT4:1:2312:47348:23013,LH00995:41:23WJ53LT4:1:2312:47356:23027,LH00995:41:23WJ53LT4:2:1119:21290:7390,LH00995:41:23WJ53LT4:2:1180:9543:14312,LH00995:41:23WJ53LT4:2:1369:24526:3746,LH00995:41:23WJ53LT4:2:2124:15643:5204,LH00995:41:23WJ53LT4:2:2188:41895:8441,LH00995:41:23WJ53LT4:2:2382:8540:19748,LH00995:41:23WJ53LT4:2:2435:10684:15979,LH00995:41:23WJ53LT4:2:2438:21735:4489,LH00995:41:23WJ53LT4:3:1148:49443:17675,LH00995:41:23WJ53LT4:3:1148:49459:17675,LH00995:41:23WJ53LT4:3:1178:9478:11285,LH00995:41:23WJ53LT4:3:1390:48335:28226,LH00995:41:23WJ53LT4:3:2180:7707:10570,LH00995:41:23WJ53LT4:3:2203:1364:26825,LH00995:41:23WJ53LT4:3:2203:1380:26825,LH00995:41:23WJ53LT4:3:2203:1396:26825,LH00995:41:23WJ53LT4:3:2333:1615:12294,LH00995:41:23WJ53LT4:3:2343:7278:25858,LH00995:41:23WJ53LT4:3:2406:6283:5470,LH00995:41:23WJ53LT4:3:2409:49208:27862,LH00995:41:23WJ53LT4:3:2417:46110:2541,LH00995:41:23WJ53LT4:4:1241:42995:16680,LH00995:41:23WJ53LT4:4:1325:16525:14073,LH00995:41:23WJ53LT4:4:1372:21848:18950,LH00995:41:23WJ53LT4:4:1372:21864:18950,LH00995:41:23WJ53LT4:4:2135:16274:7474,LH00995:41:23WJ53LT4:4:2198:24089:4335,LH00995:41:23WJ53LT4:4:2198:24097:4321,LH00995:41:23WJ53LT4:4:2255:19000:15699,LH00995:41:23WJ53LT4:4:2283:44451:3340,LH00995:41:23WJ53LT4:4:2295:8532:9113,LH00995:41:23WJ53LT4:4:2298:31629:2205,LH00995:41:23WJ53LT4:5:1124:32980:21052,LH00995:41:23WJ53LT4:5:1194:2634:16442,LH00995:41:23WJ53LT4:5:1259:30626:23924,LH00995:41:23WJ53LT4:5:1301:52056:4517,LH00995:41:23WJ53LT4:5:1302:32672:24499,LH00995:41:23WJ53LT4:5:2159:20003:20631,LH00995:41:23WJ53LT4:5:2258:9430:26895,LH00995:41:23WJ53LT4:5:2273:11080:19552,LH00995:41:23WJ53LT4:5:2337:17609:17240,LH00995:41:23WJ53LT4:6:1197:36313:6843,LH00995:41:23WJ53LT4:6:1197:36329:6843,LH00995:41:23WJ53LT4:6:1377:41741:15601,LH00995:41:23WJ53LT4:6:1377:45099:15110,LH00995:41:23WJ53LT4:6:1408:1089:25199,LH00995:41:23WJ53LT4:6:2223:38133:15489,LH00995:41:23WJ53LT4:6:2324:20254:29417,LH00995:41:23WJ53LT4:6:2344:5361:16680

LATS2

-/-

chr13:20988344

chr13:20988349

CDS

duplication/ITD

676

761

low

in-frame

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

ENSG00000150457.9

ENST00000382592.5

upstream

downstream

duplicates(68)

GCACATCTTGCACCCGGTGAAGAGCGTGCGTGTGCTGAGGCCGGAGCCGCAGACGGCTGTGGGGCCCTCGCACCCCGCCTGGGTGCCCGCGCCTGCCCCGGCCCCCGCCCCCGCCCCCGCCCC|CGCCCCGGCTGCGGAGGGCTTGGACGCCAAGGAGGAGCATGCCCTGGCGCTGGGCGGCGCAGGCGCCTTCCCGCTGGACGTGGAGTACGGAGGCCCAGACCGGAGGTGCCCGCCTCCGCCC

HILHPVKSVRVLRPEPQTAVGPSHPAWVPAPAPAPAPAPAp|APAAEGLDAKEEHALALGGAGAFPLDVEYGGPDRRCPPP

LH00995:41:23WJ53LT4:1:1109:8022:9155,LH00995:41:23WJ53LT4:1:1121:30464:10164,LH00995:41:23WJ53LT4:1:1207:23612:8132,LH00995:41:23WJ53LT4:1:1281:8087:11789,LH00995:41:23WJ53LT4:1:1419:21484:7502,LH00995:41:23WJ53LT4:1:2121:13264:19468,LH00995:41:23WJ53LT4:1:2273:29558:8370,LH00995:41:23WJ53LT4:1:2371:43351:19734,LH00995:41:23WJ53LT4:2:1252:9211:13093,LH00995:41:23WJ53LT4:2:1320:26071:4041,LH00995:41:23WJ53LT4:2:1345:42477:26628,LH00995:41:23WJ53LT4:2:1465:45196:18950,LH00995:41:23WJ53LT4:2:1467:8054:3915,LH00995:41:23WJ53LT4:2:1490:50252:9323,LH00995:41:23WJ53LT4:2:1490:50268:9323,LH00995:41:23WJ53LT4:2:2127:34056:8342,LH00995:41:23WJ53LT4:2:2264:26500:29109,LH00995:41:23WJ53LT4:2:2279:25310:14802,LH00995:41:23WJ53LT4:2:2308:28247:18039,LH00995:41:23WJ53LT4:2:2385:1849:1575,LH00995:41:23WJ53LT4:2:2394:39419:13905,LH00995:41:23WJ53LT4:2:2402:25683:28450,LH00995:41:23WJ53LT4:2:2410:31402:13191,LH00995:41:23WJ53LT4:3:1206:44071:25634,LH00995:41:23WJ53LT4:3:1313:17415:17072,LH00995:41:23WJ53LT4:3:1316:48424:11649,LH00995:41:23WJ53LT4:3:1339:18701:19216,LH00995:41:23WJ53LT4:3:1372:10109:10472,LH00995:41:23WJ53LT4:3:1417:25440:27553,LH00995:41:23WJ53LT4:3:1465:44265:17170,LH00995:41:23WJ53LT4:3:1473:32009:2387,LH00995:41:23WJ53LT4:3:2115:12965:19174,LH00995:41:23WJ53LT4:3:2126:22746:5232,LH00995:41:23WJ53LT4:3:2190:52113:28044,LH00995:41:23WJ53LT4:3:2250:5045:3242,LH00995:41:23WJ53LT4:3:2259:36734:6311,LH00995:41:23WJ53LT4:3:2343:10862:14045,LH00995:41:23WJ53LT4:3:2379:8653:16666,LH00995:41:23WJ53LT4:3:2430:51643:1504,LH00995:41:23WJ53LT4:3:2480:5749:9057,LH00995:41:23WJ53LT4:4:1116:14098:24387,LH00995:41:23WJ53LT4:4:1330:4317:3074,LH00995:41:23WJ53LT4:4:1427:49402:26348,LH00995:41:23WJ53LT4:4:1427:49411:26362,LH00995:41:23WJ53LT4:4:1469:19300:15489,LH00995:41:23WJ53LT4:4:2102:39047:22088,LH00995:41:23WJ53LT4:4:2224:11460:28142,LH00995:41:23WJ53LT4:4:2250:3241:15419,LH00995:41:23WJ53LT4:4:2314:2796:6493,LH00995:41:23WJ53LT4:5:1146:39468:28058,LH00995:41:23WJ53LT4:5:1190:31645:25858,LH00995:41:23WJ53LT4:5:1214:48351:2499,LH00995:41:23WJ53LT4:5:1378:32276:14676,LH00995:41:23WJ53LT4:5:2116:41588:7292,LH00995:41:23WJ53LT4:5:2170:43861:17563,LH00995:41:23WJ53LT4:5:2222:25254:23532,LH00995:41:23WJ53LT4:5:2313:5393:25984,LH00995:41:23WJ53LT4:5:2372:34800:1673,LH00995:41:23WJ53LT4:5:2480:40568:26853,LH00995:41:23WJ53LT4:6:1126:28902:26881,LH00995:41:23WJ53LT4:6:1171:32632:23616,LH00995:41:23WJ53LT4:6:1171:32640:23602,LH00995:41:23WJ53LT4:6:1237:24332:9576,LH00995:41:23WJ53LT4:6:1242:39314:7334,LH00995:41:23WJ53LT4:6:1303:2068:12798,LH00995:41:23WJ53LT4:6:1349:1291:7165,LH00995:41:23WJ53LT4:6:1462:40528:5904,LH00995:41:23WJ53LT4:6:2144:34840:13569,LH00995:41:23WJ53LT4:6:2197:36224:7670,LH00995:41:23WJ53LT4:6:2326:14899:10136,LH00995:41:23WJ53LT4:1:1191:37769:3368,LH00995:41:23WJ53LT4:1:1255:47784:29543,LH00995:41:23WJ53LT4:1:1266:17649:11229,LH00995:41:23WJ53LT4:1:1267:19769:8062,LH00995:41:23WJ53LT4:1:1431:32721:25928,LH00995:41:23WJ53LT4:1:2246:45697:2780,LH00995:41:23WJ53LT4:1:2265:17220:28058,LH00995:41:23WJ53LT4:1:2355:38060:3564,LH00995:41:23WJ53LT4:1:2355:38076:3564,LH00995:41:23WJ53LT4:1:2390:45665:5862,LH00995:41:23WJ53LT4:1:2476:42712:1168,LH00995:41:23WJ53LT4:2:1146:26548:4251,LH00995:41:23WJ53LT4:2:1275:9147:15783,LH00995:41:23WJ53LT4:2:1280:15133:20575,LH00995:41:23WJ53LT4:2:2215:47760:13891,LH00995:41:23WJ53LT4:2:2273:20036:6843,LH00995:41:23WJ53LT4:2:2294:21743:8090,LH00995:41:23WJ53LT4:2:2302:8241:3788,LH00995:41:23WJ53LT4:2:2306:10546:25381,LH00995:41:23WJ53LT4:2:2451:44379:8679,LH00995:41:23WJ53LT4:3:1103:28296:18712,LH00995:41:23WJ53LT4:3:1150:48448:17689,LH00995:41:23WJ53LT4:3:1172:20683:26124,LH00995:41:23WJ53LT4:3:1241:9098:23350,LH00995:41:23WJ53LT4:3:1389:44977:19580,LH00995:41:23WJ53LT4:3:1409:41984:18431,LH00995:41:23WJ53LT4:3:1415:13499:14830,LH00995:41:23WJ53LT4:3:2179:19971:15531,LH00995:41:23WJ53LT4:4:1464:26977:22088,LH00995:41:23WJ53LT4:4:2110:10732:26292,LH00995:41:23WJ53LT4:4:2355:27349:26264,LH00995:41:23WJ53LT4:5:1216:1849:18978,LH00995:41:23WJ53LT4:5:1230:29372:13429,LH00995:41:23WJ53LT4:5:2248:34711:7516,LH00995:41:23WJ53LT4:5:2408:40989:1631,LH00995:41:23WJ53LT4:6:1337:18628:21612,LH00995:41:23WJ53LT4:6:1469:41474:15923,LH00995:41:23WJ53LT4:6:2113:9155:7165,LH00995:41:23WJ53LT4:6:2238:41822:15068,LH00995:41:23WJ53LT4:6:2288:51336:5680,LH00995:41:23WJ53LT4:2:2298:10271:9127,LH00995:41:23WJ53LT4:3:2332:31977:27637,LH00995:41:23WJ53LT4:5:2261:19275:26040,LH00995:41:23WJ53LT4:2:2496:1793:14340

RUNDC1

+/+

chr17:42981074

chr17:42981069

CDS/splice-site

CDS

duplication/ITD

366

low

in-frame

|RUN_domain(100%)

ENSG00000198863.7

ENST00000361677.5

downstream

upstream

duplicates(16)

TCACGTCCTAGGTTACGAAGGGCCCGGCGACCCCGCCAGCGATGAGGGCGATGGGCTGCCAGGGGACCGGCCAcGGTTGCGGGGCGAGGACCAG|GgCttG___AGTGAGCAGGAAAAGCAAGAGCGTCTGGAAACCCAAAGGGAGAAGCAGAAAGAACTGATACTGCAGCTCAAGACCCAGCTAGATGACCTGGAAACGTTTGCCTATCAAGAGGGCAGTTATGACTCGCTGCCACAGTCCGTGGTGTT

HVLGYEGPGDPASDEGDGLPGDRPrLRGEDQ|glSEQEKQERLETQREKQKELILQLKTQLDDLETFAYQEGSYDSLPQSVV

LH00995:41:23WJ53LT4:1:1481:23959:20841,LH00995:41:23WJ53LT4:1:2226:45091:11481,LH00995:41:23WJ53LT4:1:2226:45107:11481,LH00995:41:23WJ53LT4:1:2417:43602:18459,LH00995:41:23WJ53LT4:2:1119:1760:15909,LH00995:41:23WJ53LT4:2:1130:8321:18277,LH00995:41:23WJ53LT4:2:1351:26726:14200,LH00995:41:23WJ53LT4:3:1179:11873:9239,LH00995:41:23WJ53LT4:3:1185:34582:10514,LH00995:41:23WJ53LT4:3:1365:40358:14298,LH00995:41:23WJ53LT4:3:2352:37826:20477,LH00995:41:23WJ53LT4:4:1110:49653:12995,LH00995:41:23WJ53LT4:4:1110:49661:13009,LH00995:41:23WJ53LT4:4:1153:50891:28842,LH00995:41:23WJ53LT4:4:1153:50899:28856,LH00995:41:23WJ53LT4:4:1231:46417:12574,LH00995:41:23WJ53LT4:4:1375:12407:5960,LH00995:41:23WJ53LT4:4:2104:32842:6128,LH00995:41:23WJ53LT4:4:2243:42882:10486,LH00995:41:23WJ53LT4:4:2269:7488:19945,LH00995:41:23WJ53LT4:4:2438:24429:11958,LH00995:41:23WJ53LT4:5:1242:40803:14340,LH00995:41:23WJ53LT4:5:1317:52040:4741,LH00995:41:23WJ53LT4:5:1438:30043:25129,LH00995:41:23WJ53LT4:5:1456:37850:10823,LH00995:41:23WJ53LT4:5:2173:18855:4097,LH00995:41:23WJ53LT4:5:2173:18871:4097,LH00995:41:23WJ53LT4:5:2310:49839:17857,LH00995:41:23WJ53LT4:5:2435:10854:13751,LH00995:41:23WJ53LT4:6:1112:27115:17226,LH00995:41:23WJ53LT4:6:1158:16161:4951,LH00995:41:23WJ53LT4:6:1307:27333:10150,LH00995:41:23WJ53LT4:6:1331:48318:29263,LH00995:41:23WJ53LT4:6:1497:3920:4377,LH00995:41:23WJ53LT4:6:2167:36458:25479,LH00995:41:23WJ53LT4:6:2209:50600:4349,LH00995:41:23WJ53LT4:6:2209:50608:4363

IGH@-ext

FP236383.3

-/-

+/+

chr14:105707156

chr21:8399951

exon

intron

translocation

31685

2471

low

IGH.g@-ext

ENSG00000280441.3

IGH.t@-ext

upstream

duplicates(5),mismappers(7)

CAGCATACTGCGCGTGGCAGCCGAGGACTGGAAGAAGGGGGACACCTTCTCCTGCATGGTGGGCCACGAGGCCCTGCCGCTGGCCTTCACACAGAAGACCATCGACCGCTTGGCGGGTAAACCCACCCATGTCAATGTGTCTGTTGTCATGGCGGAGGTGGACGGCACCTGCTACTGAGCCGCCCGCCTG|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:41:23WJ53LT4:1:1365:4576:28969,LH00995:41:23WJ53LT4:1:2171:12358:16582,LH00995:41:23WJ53LT4:1:2349:47930:18501,LH00995:41:23WJ53LT4:1:2473:19130:3564,LH00995:41:23WJ53LT4:2:1146:9406:24947,LH00995:41:23WJ53LT4:2:1365:20643:20954,LH00995:41:23WJ53LT4:2:2138:42850:19931,LH00995:41:23WJ53LT4:2:2288:39662:23041,LH00995:41:23WJ53LT4:2:2353:13758:28898,LH00995:41:23WJ53LT4:2:2380:4592:19748,LH00995:41:23WJ53LT4:2:2452:44888:4125,LH00995:41:23WJ53LT4:2:2473:35989:22173,LH00995:41:23WJ53LT4:3:1211:34598:19847,LH00995:41:23WJ53LT4:3:2491:5458:13569,LH00995:41:23WJ53LT4:4:1360:19211:2752,LH00995:41:23WJ53LT4:4:1444:15400:18347,LH00995:41:23WJ53LT4:4:2145:46344:17464,LH00995:41:23WJ53LT4:5:1132:48529:20407,LH00995:41:23WJ53LT4:5:1161:49119:5260,LH00995:41:23WJ53LT4:5:2290:41353:5512,LH00995:41:23WJ53LT4:5:2470:5320:27623,LH00995:41:23WJ53LT4:6:1354:43594:18501,LH00995:41:23WJ53LT4:6:2134:16541:3564,LH00995:41:23WJ53LT4:6:2318:32680:6465

ZNF703

FP236383.3

+/+

chr8:37698690

chr21:8399951

3'UTR

intron

translocation

4384

2471

low

stop-codon

NocA-like_zinc-finger_protein_1(100%)|

ENSG00000183779.7

ENSG00000280441.3

ENST00000331569.6

downstream

upstream

duplicates(24)

ACTTATCCACAGCGGGGGG?CTGGCCGTGCCGTCCCTCCCCACAGCCGGACCCTACTATTCGCCATACGCGCTGTATGGACAGAGACTAGCTTCAGCCTCGGCGCTGGGATACCAGTAACTACAGCTCTTCCTCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:41:23WJ53LT4:1:1159:52145:24457,LH00995:41:23WJ53LT4:1:1423:13580:25003,LH00995:41:23WJ53LT4:1:2389:50341:26825,LH00995:41:23WJ53LT4:2:1191:30084:21556,LH00995:41:23WJ53LT4:2:1420:40633:5162,LH00995:41:23WJ53LT4:2:1432:50058:18375,LH00995:41:23WJ53LT4:2:2345:37510:5946,LH00995:41:23WJ53LT4:2:2410:8920:22313,LH00995:41:23WJ53LT4:3:1491:52024:15699,LH00995:41:23WJ53LT4:3:2273:33595:28002,LH00995:41:23WJ53LT4:3:2469:30051:7656,LH00995:41:23WJ53LT4:3:2469:42146:6100,LH00995:41:23WJ53LT4:4:1114:28522:16722,LH00995:41:23WJ53LT4:4:1139:51773:21234,LH00995:41:23WJ53LT4:4:1155:8289:3004,LH00995:41:23WJ53LT4:4:1252:46239:29501,LH00995:41:23WJ53LT4:4:1445:24688:28941,LH00995:41:23WJ53LT4:4:1462:37098:17366,LH00995:41:23WJ53LT4:4:2262:2068:12630,LH00995:41:23WJ53LT4:4:2264:49993:16414,LH00995:41:23WJ53LT4:4:2264:51029:18712,LH00995:41:23WJ53LT4:4:2327:2149:2037,LH00995:41:23WJ53LT4:4:2327:2157:2051,LH00995:41:23WJ53LT4:4:2355:30213:25648,LH00995:41:23WJ53LT4:4:2386:36054:25283,LH00995:41:23WJ53LT4:4:2398:4746:10654,LH00995:41:23WJ53LT4:5:1398:37421:21374,LH00995:41:23WJ53LT4:5:1406:7173:28394,LH00995:41:23WJ53LT4:5:2131:30181:26124,LH00995:41:23WJ53LT4:5:2135:49055:8931,LH00995:41:23WJ53LT4:5:2141:31928:2527,LH00995:41:23WJ53LT4:5:2203:31766:26713,LH00995:41:23WJ53LT4:5:2431:16161:29697,LH00995:41:23WJ53LT4:6:1307:21848:17633,LH00995:41:23WJ53LT4:6:2139:13192:28478,LH00995:41:23WJ53LT4:6:2140:12981:3929,LH00995:41:23WJ53LT4:6:2177:4665:14158

PPDPF

FP236383.3

+/+

chr20:63521935

chr21:8399951

3'UTR

intron

translocation

8955

2471

low

stop-codon

Differentiation_and_proliferation_regulator(100%)|

ENSG00000125534.10

ENSG00000280441.3

ENST00000370179.8

downstream

upstream

duplicates(15),mismatches(10),multimappers(7)

GGGCCAGCTTCTTTTTCGGGAAGTCCACCCTCCCGTTCATGGCCACGGTGTTGGAGTCCGCAGAGCACTCGGAACCTCCCCAGGCCTCCAGCAGCATGACCGCCTGTGGCCTGGCTCGGGACGCCCCGAGGAAGCAGCCCGGCGGTCAGTCCAGCACAGCCAGCGCTGGGCCCCCGTCCTGACCTGAGCGGTTACCACCAGCCCCAGGCCTGCGGAGGCGCTAGTCCACCAGAGCCCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCC

LH00995:41:23WJ53LT4:1:1185:9834:28352,LH00995:41:23WJ53LT4:1:1254:26767:27385,LH00995:41:23WJ53LT4:1:1302:13135:11565,LH00995:41:23WJ53LT4:1:1380:33142:10514,LH00995:41:23WJ53LT4:1:2163:51522:7348,LH00995:41:23WJ53LT4:1:2168:9195:12981,LH00995:41:23WJ53LT4:2:1267:15271:16498,LH00995:41:23WJ53LT4:2:1278:48076:10767,LH00995:41:23WJ53LT4:2:1349:4616:28142,LH00995:41:23WJ53LT4:2:2201:22803:2864,LH00995:41:23WJ53LT4:2:2229:37866:8945,LH00995:41:23WJ53LT4:2:2249:26831:11299,LH00995:41:23WJ53LT4:2:2318:18207:7992,LH00995:41:23WJ53LT4:2:2357:13912:7165,LH00995:41:23WJ53LT4:2:2475:19469:23686,LH00995:41:23WJ53LT4:3:1131:12836:14774,LH00995:41:23WJ53LT4:3:1131:12852:14774,LH00995:41:23WJ53LT4:3:1131:12868:14774,LH00995:41:23WJ53LT4:3:1289:4592:6353,LH00995:41:23WJ53LT4:3:1440:45301:26530,LH00995:41:23WJ53LT4:3:1455:38586:18151,LH00995:41:23WJ53LT4:3:2129:26564:11677,LH00995:41:23WJ53LT4:3:2156:1502:20169,LH00995:41:23WJ53LT4:3:2160:19413:3746,LH00995:41:23WJ53LT4:3:2306:4301:19776,LH00995:41:23WJ53LT4:3:2423:23984:26068,LH00995:41:23WJ53LT4:4:1145:51287:12714,LH00995:41:23WJ53LT4:4:1445:30731:9393,LH00995:41:23WJ53LT4:4:2139:15651:22873,LH00995:41:23WJ53LT4:4:2155:28247:2709,LH00995:41:23WJ53LT4:4:2189:3128:6899,LH00995:41:23WJ53LT4:4:2258:33384:6227,LH00995:41:23WJ53LT4:4:2354:21306:17142,LH00995:41:23WJ53LT4:4:2360:4058:13023,LH00995:41:23WJ53LT4:5:1125:27349:22060,LH00995:41:23WJ53LT4:5:1191:12771:28926,LH00995:41:23WJ53LT4:5:1466:16096:18880,LH00995:41:23WJ53LT4:5:2151:11242:9576,LH00995:41:23WJ53LT4:5:2151:11258:9576,LH00995:41:23WJ53LT4:5:2297:16242:28156,LH00995:41:23WJ53LT4:6:1160:24461:10276,LH00995:41:23WJ53LT4:6:1272:40932:25914,LH00995:41:23WJ53LT4:6:1304:42672:21108,LH00995:41:23WJ53LT4:6:1304:42688:21108,LH00995:41:23WJ53LT4:6:2309:15279:22649

DTX2

+/+

chr7:76492253

chr7:76463545

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

4216

115

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(16),mismatches(3)

TCTCCCACCTGGGACCGCAGCACCTGCCCCCAGGATCCTCCACCTCCGGTGCAGTCAG___TGCCTCCCTCCCCAGCGGTCCCTCAAGCAGCCCAGGGAGCGTCCCTGCCACTGTGCCCATGCAGATGCCAAAGCCCAGCAGAGTCCAGCAGGCGCTCGCAG|GTGCCTTGGAATTTGTGTCGCTGAGTCAGCAAGCCTTTCAGATTTGCCCGGTTTTTGTTGTTTGTGGTTTGTATCAAGATGGGAACTCAAACAAGTCATTCC

SHLGPQHLPPGSSTSGAVSASLPSGPSSSPGSVPATVPMQMPKPSRVQQALA|galefvslsqqafqicpvfvvcglyqdgnsnksf

LH00995:41:23WJ53LT4:1:1239:20804:3943,LH00995:41:23WJ53LT4:2:1131:51959:19903,LH00995:41:23WJ53LT4:4:1208:43165:4839,LH00995:41:23WJ53LT4:4:2208:50373:9842,LH00995:41:23WJ53LT4:5:1133:13038:20113,LH00995:41:23WJ53LT4:5:1133:13046:20127,LH00995:41:23WJ53LT4:6:2317:31969:5176,LH00995:41:23WJ53LT4:1:1497:10126:13303,LH00995:41:23WJ53LT4:2:1435:12658:22789,LH00995:41:23WJ53LT4:2:2162:13823:4041,LH00995:41:23WJ53LT4:2:2348:18887:14998,LH00995:41:23WJ53LT4:2:2431:10975:18754,LH00995:41:23WJ53LT4:3:2392:50980:7810,LH00995:41:23WJ53LT4:4:1192:5490:22789,LH00995:41:23WJ53LT4:4:1201:31661:5260,LH00995:41:23WJ53LT4:4:2137:1938:27876,LH00995:41:23WJ53LT4:4:2139:44548:18333,LH00995:41:23WJ53LT4:4:2330:27592:19230,LH00995:41:23WJ53LT4:5:1132:17504:7642,LH00995:41:23WJ53LT4:5:1298:36499:8567,LH00995:41:23WJ53LT4:5:1397:5498:24961,LH00995:41:23WJ53LT4:5:1438:16428:19426,LH00995:41:23WJ53LT4:5:1438:41790:11509,LH00995:41:23WJ53LT4:5:2112:21023:19650,LH00995:41:23WJ53LT4:5:2227:51287:24401,LH00995:41:23WJ53LT4:6:1289:47170:23097,LH00995:41:23WJ53LT4:6:1351:40932:22691,LH00995:41:23WJ53LT4:6:1494:5490:20631,LH00995:41:23WJ53LT4:6:2174:16767:24246,LH00995:41:23WJ53LT4:6:2291:7715:8651,LH00995:41:23WJ53LT4:6:2291:7731:8651

SGIP1

+/+

chr1:66690316

chr1:66677004

CDS/splice-site

duplication/non-canonical_splicing

1293

498

low

in-frame

|Muniscin_C-terminal_mu_homology_domain(100%)

ENSG00000118473.22

ENST00000371037.9

downstream

upstream

duplicates(25)

CTTTTAGCCCTCCCATTCATTCTTCCAGCCCTCCTCCAATAGCACCCTTAGCGCGGGCTGAAAGCACTTCTTCAATATCGTCAACCAATTCCTTGAGCGCAGCCACCACTCCCACAGTTG|TTCTTTTAGATCAGCCTGAGATATGGGGTTCAGGCCAACCAATTAATCCAAGCATGGAGTCGCCAAAGTTAACAAGGCCTTTTCCCACTGGAA___CACCTCCACCACTGCCTCCAAAAAATGTACCAGCTACCC

FSPPIHSSSPPPIAPLARAESTSSISSTNSLSAATTPTV|vLLDQPEIWGSGQPINPSMESPKLTRPFPTGTPPPLPPKNVPAT

LH00995:41:23WJ53LT4:1:1346:38659:9309,LH00995:41:23WJ53LT4:1:1394:35536:15923,LH00995:41:23WJ53LT4:1:1394:35544:15937,LH00995:41:23WJ53LT4:2:1192:50228:10206,LH00995:41:23WJ53LT4:2:1239:9365:28912,LH00995:41:23WJ53LT4:2:2329:27584:20393,LH00995:41:23WJ53LT4:2:2438:6000:19748,LH00995:41:23WJ53LT4:2:2486:47477:5694,LH00995:41:23WJ53LT4:2:2490:4632:14354,LH00995:41:23WJ53LT4:3:1373:45544:25353,LH00995:41:23WJ53LT4:3:2361:43375:7418,LH00995:41:23WJ53LT4:4:1272:31613:11705,LH00995:41:23WJ53LT4:4:1280:36823:1897,LH00995:41:23WJ53LT4:4:1385:38983:14942,LH00995:41:23WJ53LT4:4:1398:41685:10486,LH00995:41:23WJ53LT4:4:2113:17455:16638,LH00995:41:23WJ53LT4:4:2240:17552:21262,LH00995:41:23WJ53LT4:4:2352:29574:24344,LH00995:41:23WJ53LT4:5:1112:46563:13415,LH00995:41:23WJ53LT4:5:2311:40414:18235,LH00995:41:23WJ53LT4:5:2330:31119:23406,LH00995:41:23WJ53LT4:6:1119:3467:3592,LH00995:41:23WJ53LT4:6:2116:26152:17577,LH00995:41:23WJ53LT4:6:2125:11671:21612,LH00995:41:23WJ53LT4:6:2385:41256:15433,LH00995:41:23WJ53LT4:1:1130:39055:23280,LH00995:41:23WJ53LT4:2:1466:28538:7614,LH00995:41:23WJ53LT4:2:2139:17779:28688,LH00995:41:23WJ53LT4:2:2149:40940:5750,LH00995:41:23WJ53LT4:3:1223:34444:29641,LH00995:41:23WJ53LT4:4:1201:36895:1855,LH00995:41:23WJ53LT4:4:2167:37017:3186,LH00995:41:23WJ53LT4:5:2276:16484:25522,LH00995:41:23WJ53LT4:6:1333:13523:25858,LH00995:41:23WJ53LT4:6:1471:14793:25844,LH00995:41:23WJ53LT4:6:2217:40091:9772

CRTC2

FP236383.3

-/-

+/+

chr1:153951483

chr21:8399953

CDS

intron

translocation

4153

2471

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(18),mismatches(1),multimappers(1)

AGGCTTCCCTGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

ASLSSPQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSa|prplslslp

LH00995:41:23WJ53LT4:1:1144:41167:20575,LH00995:41:23WJ53LT4:1:1230:24113:19790,LH00995:41:23WJ53LT4:1:1439:10546:5372,LH00995:41:23WJ53LT4:1:1459:44257:9898,LH00995:41:23WJ53LT4:1:2489:29113:14858,LH00995:41:23WJ53LT4:2:1116:35326:6787,LH00995:41:23WJ53LT4:2:1203:43513:13289,LH00995:41:23WJ53LT4:2:1218:22123:5498,LH00995:41:23WJ53LT4:2:2422:11452:27511,LH00995:41:23WJ53LT4:3:1187:23417:14914,LH00995:41:23WJ53LT4:3:1217:19170:13975,LH00995:41:23WJ53LT4:3:1335:12633:21038,LH00995:41:23WJ53LT4:3:1345:18038:24092,LH00995:41:23WJ53LT4:3:1398:32446:26124,LH00995:41:23WJ53LT4:3:1492:16185:23742,LH00995:41:23WJ53LT4:3:2177:15368:13275,LH00995:41:23WJ53LT4:3:2181:47307:18571,LH00995:41:23WJ53LT4:3:2273:28797:1560,LH00995:41:23WJ53LT4:3:2344:29631:8665,LH00995:41:23WJ53LT4:4:1126:7084:8819,LH00995:41:23WJ53LT4:4:1274:41418:24092,LH00995:41:23WJ53LT4:4:2335:50389:12532,LH00995:41:23WJ53LT4:5:1310:18547:4853,LH00995:41:23WJ53LT4:5:1393:37170:21304,LH00995:41:23WJ53LT4:5:1494:26621:4937,LH00995:41:23WJ53LT4:5:2409:38505:20533,LH00995:41:23WJ53LT4:5:2470:28822:21080,LH00995:41:23WJ53LT4:6:1138:44233:17843,LH00995:41:23WJ53LT4:6:1218:3063:28310,LH00995:41:23WJ53LT4:6:1219:29364:8062,LH00995:41:23WJ53LT4:6:2177:9041:23560

NXPE4

-/-

chr11:114580132

chr11:114583021

CDS/splice-site

duplication/non-canonical_splicing

1875

2514

low

out-of-frame

Neurexophilin(100%)|Neurexophilin(100%)

ENSG00000137634.10

ENST00000375478.4

upstream

downstream

duplicates(6),mismatches(1)

GCAAGTTTGGAATGACATCCACAATCCCCAGTGGGCATGTCTGGAGAAACACATGGAATCCTGTCTCCTGTAGTTTGGCTACAGTCAAAATGAAGGAATGCCTGAGAGGAAAACTCATATACCTAATGGGAGATTCCACGATCCGCCAGTGGATGGAATACTTCAAAGCCAGTATCAACA|GTTTGGTCTGCTCTAAACTTATCCATCTCCCTCCATTACTGGAACAACTCCACAAAGTCCTTATTCCCTAAAACACCACTGATATCATTAAAGCCACTAACAGAGACTGAACTCAGAATAAAGGAAATCATAGAGAAACTAGATCAGCAGATCCCACCCAGACCTTTCACCCACGTGAACACCACC

KFGMTSTIPSGHVWRNTWNPVSCSLATVKMKECLRGKLIYLMGDSTIRQWMEYFKASIN|slvcsklihlpplleqlhkvlip*

LH00995:41:23WJ53LT4:1:1227:14842:25676,LH00995:41:23WJ53LT4:2:1155:39889:23181,LH00995:41:23WJ53LT4:3:1211:39508:21598,LH00995:41:23WJ53LT4:4:1379:21427:10711,LH00995:41:23WJ53LT4:4:2110:4414:23448,LH00995:41:23WJ53LT4:4:2210:49330:24513,LH00995:41:23WJ53LT4:5:1171:43610:6283,LH00995:41:23WJ53LT4:5:1445:8774:2387,LH00995:41:23WJ53LT4:6:2103:18491:3466,LH00995:41:23WJ53LT4:1:2438:47073:29319,LH00995:41:23WJ53LT4:2:1190:25941:28786,LH00995:41:23WJ53LT4:2:1335:45487:3676,LH00995:41:23WJ53LT4:2:2290:11250:8160,LH00995:41:23WJ53LT4:2:2430:9616:10682,LH00995:41:23WJ53LT4:3:1483:23701:11229,LH00995:41:23WJ53LT4:3:2107:48674:2976,LH00995:41:23WJ53LT4:5:1237:38772:9057,LH00995:41:23WJ53LT4:5:1493:20100:2611

GRM8

-/-

chr7:127242695

chr7:127243515

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

1044

low

out-of-frame

Receptor_family_ligand_binding_region(23%)|7_transmembrane_sweet-taste_receptor_of_3_GCPR(100%),Nine_Cysteines_Domain_of_family_3_GPCR(100%),Receptor_family_ligand_binding_region(100%)

ENSG00000179603.18

ENST00000339582.7

upstream

downstream

duplicates(12)

TCTGGGTGTCCGCATCCTCGACACGTGCTCTAGGGACACCTATGCTTTGGAGCAGTCTCTAACATTCGTGCAGGCATTAATAGAGAAAGATGCTTCGGATGTGAAGTGTGCTAATGGAGATCCACCCATTTTCACCAAGCCCGACAAGATTTCTGGCGTCATAGGTGCTGCAGCAAGCTCCGTGTCCATCATGGTTGCTAACATTTTAAGACTTTTTAAG|GAATAATTCTGCTACAAGGCTGATTTCAAGGACATGAATTGTTGACCTCATCCCAACATCAGAACCTCAGATGTTCTAATTTTTGCA

LGVRILDTCSRDTYALEQSLTFVQALIEKDASDVKCANGDPPIFTKPDKISGVIGAAASSVSIMVANILRLFK|e*

LH00995:41:23WJ53LT4:1:1196:10158:23588,LH00995:41:23WJ53LT4:1:1339:27600:2037,LH00995:41:23WJ53LT4:2:1205:51967:8483,LH00995:41:23WJ53LT4:2:1243:37324:6044,LH00995:41:23WJ53LT4:2:1243:37332:6058,LH00995:41:23WJ53LT4:2:1329:51870:22131,LH00995:41:23WJ53LT4:2:2164:9600:8889,LH00995:41:23WJ53LT4:2:2456:31273:8511,LH00995:41:23WJ53LT4:2:2456:31281:8525,LH00995:41:23WJ53LT4:3:1249:31354:2709,LH00995:41:23WJ53LT4:3:2476:6841:19552,LH00995:41:23WJ53LT4:4:2315:36450:11677,LH00995:41:23WJ53LT4:4:2436:37454:6969,LH00995:41:23WJ53LT4:5:1374:50697:1266,LH00995:41:23WJ53LT4:5:1374:50705:1280,LH00995:41:23WJ53LT4:5:2464:17407:4139,LH00995:41:23WJ53LT4:5:2464:17415:4125,LH00995:41:23WJ53LT4:6:2290:20926:24751,LH00995:41:23WJ53LT4:6:2290:20934:24765,LH00995:41:23WJ53LT4:6:2290:20942:24751,LH00995:41:23WJ53LT4:2:1126:33926:26839,LH00995:41:23WJ53LT4:6:2362:47639:13485

NPHP3

ACAD11

-/-

chr3:132681914

chr3:132644896

CDS

CDS/splice-site

deletion/read-through

405

615

low

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(11)

GAAACATCACTCTTGGGTGGAAAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTATCTCCAGAAGGGCTTTCAAACATATGTGCTCAGGAAAAAACCACCAGGTTCACTTCTTCCTAAAGCACATCAG___ATTGATAGAGAATTTAAAGTCCAGAAAGC

ETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTFYLQKGFQTYVLRKKPPGSLLPKAHQIDREFKVQK

LH00995:41:23WJ53LT4:1:1106:41248:19454,LH00995:41:23WJ53LT4:1:2238:10748:13905,LH00995:41:23WJ53LT4:2:2414:21686:8637,LH00995:41:23WJ53LT4:3:2343:47348:25423,LH00995:41:23WJ53LT4:3:2441:34428:27175,LH00995:41:23WJ53LT4:6:1361:41361:19482,LH00995:41:23WJ53LT4:1:1182:39646:23069,LH00995:41:23WJ53LT4:1:2126:3856:10374,LH00995:41:23WJ53LT4:1:2490:32227:1280,LH00995:41:23WJ53LT4:2:1246:43189:20855,LH00995:41:23WJ53LT4:2:2231:43634:1420,LH00995:41:23WJ53LT4:2:2324:42413:1098,LH00995:41:23WJ53LT4:2:2462:36887:6605,LH00995:41:23WJ53LT4:3:2104:47493:10879,LH00995:41:23WJ53LT4:3:2222:38263:15517,LH00995:41:23WJ53LT4:3:2381:15797:13317,LH00995:41:23WJ53LT4:4:1266:47032:12574,LH00995:41:23WJ53LT4:5:1413:34015:6311,LH00995:41:23WJ53LT4:5:2219:41563:27792,LH00995:41:23WJ53LT4:5:2427:22851:4209

POLR2A

FP236383.3

+/+

chr17:7513253

chr21:8399953

CDS

intron

translocation

9158

2471

low

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(4),mismatches(1)

TCCTACTCCCCTACCTCTCCATCCTATTCTCCAACCAGTCCCAACTATAGTCCCACATCACCCAGCTATTCGCCAACGTCACCCAGCTACTCACCGACCTCTCCCAGCTACTCACCCACCTCTCCCAGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCCG

SYSPTSPSYSPTSPNYSPTSPSYSPTSPSYSPTSPSYSPTSPS|papslslsp

LH00995:41:23WJ53LT4:1:1230:33004:10809,LH00995:41:23WJ53LT4:1:1288:24291:17128,LH00995:41:23WJ53LT4:1:1435:28635:17002,LH00995:41:23WJ53LT4:1:1435:51174:18403,LH00995:41:23WJ53LT4:2:2149:6647:14816,LH00995:41:23WJ53LT4:3:1102:29550:17997,LH00995:41:23WJ53LT4:3:2424:8346:14144,LH00995:41:23WJ53LT4:4:1297:5377:17044,LH00995:41:23WJ53LT4:4:1334:35431:20701,LH00995:41:23WJ53LT4:4:2385:41717:1434,LH00995:41:23WJ53LT4:6:2223:42259:18515,LH00995:41:23WJ53LT4:6:2374:18240:2023,LH00995:41:23WJ53LT4:6:2389:12067:23616

CRYZL2P

SEC16B

-/-

chr1:178026155

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

178

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(3)

GCAGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTtCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGACAACCG

LH00995:41:23WJ53LT4:1:1227:6938:23560,LH00995:41:23WJ53LT4:1:2282:32502:24793,LH00995:41:23WJ53LT4:2:1102:10773:13975,LH00995:41:23WJ53LT4:2:1152:51271:10949,LH00995:41:23WJ53LT4:2:2463:41693:7334,LH00995:41:23WJ53LT4:3:1491:18944:20757,LH00995:41:23WJ53LT4:3:1491:18960:20757,LH00995:41:23WJ53LT4:3:2140:36814:28562,LH00995:41:23WJ53LT4:3:2146:27519:4223,LH00995:41:23WJ53LT4:4:1450:50972:26404,LH00995:41:23WJ53LT4:5:1398:23086:1168,LH00995:41:23WJ53LT4:5:2171:42421:15068,LH00995:41:23WJ53LT4:5:2352:23838:19230,LH00995:41:23WJ53LT4:6:1179:31629:25662,LH00995:41:23WJ53LT4:6:2191:29962:8735

CRYZL2P

SEC16B

-/-

chr1:178037694

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

178

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(2)

CCCGCCCCGTCGGGCCTCAtGAG|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTtCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGACAACCGTGGG

LH00995:41:23WJ53LT4:5:2133:4365:12546,LH00995:41:23WJ53LT4:6:1262:30156:23055,LH00995:41:23WJ53LT4:6:1262:30173:23055

CRYZL2P

SEC16B

-/-

chr1:178022440

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

178

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(1)

TGGTTTTCAAGCTGGACGAG|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTtCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGACAACCGTG

LH00995:41:23WJ53LT4:1:2290:47064:26222,LH00995:41:23WJ53LT4:3:1228:36329:2275

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

duplicates(3)

CAGCTTTTGCCACATCCTGATCACAAATCACAGGGAGAAGAAGCTGCAGCAGAGCACCAAATACTGGTGCCTAAATCAATCGGCAG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAGGCTGAG___GTGCAGCTGGTCCACTCCCTGGCGGCCACCAGaAAGCGGGCTGCAGAGCGTTCTGTGACCCTGAAGAGTGGCAGGATACCCATGATGAAGAAGGTGGAGACTCCTGAAGGGGAGGTGATGTCTCCCCGAC

LH00995:41:23WJ53LT4:1:2482:7593:29431,LH00995:41:23WJ53LT4:3:2304:25213:16063,LH00995:41:23WJ53LT4:3:2325:11064:10584,LH00995:41:23WJ53LT4:4:2398:3387:20463,LH00995:41:23WJ53LT4:4:2398:3395:20477,LH00995:41:23WJ53LT4:6:1350:19413:1841,LH00995:41:23WJ53LT4:6:1391:31176:12014,LH00995:41:23WJ53LT4:6:1391:31184:12000,LH00995:41:23WJ53LT4:6:1391:31200:12000

AL512590.2

CCDC180

+/+

chr9:97290902

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

GGTGGCCATTGCAAGGTACTCTGGCTGGCAAATAGCCTATATTCTGTGGG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTC

LH00995:41:23WJ53LT4:2:1253:48763:18992

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48621167

CDS/splice-site

deletion/read-through

391

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

duplicates(7)

GTCTAGATCATCCCCATTGTCTGTCATACAAATTAGAGCTTGGATCAGACCAAGAAATTCCCTCTGATTGGTATCCATTTGCTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAGGT

LDHPHCLSYKLELGSDQEIPSDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|LWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSST

LH00995:41:23WJ53LT4:1:2267:25165:20211,LH00995:41:23WJ53LT4:4:1336:14437:18445,LH00995:41:23WJ53LT4:5:2321:49969:4125,LH00995:41:23WJ53LT4:6:1139:40123:17815,LH00995:41:23WJ53LT4:6:2163:26912:24863,LH00995:41:23WJ53LT4:6:2163:26920:24849,LH00995:41:23WJ53LT4:1:1161:8896:21178,LH00995:41:23WJ53LT4:2:1112:4543:28688,LH00995:41:23WJ53LT4:2:1243:10247:22817,LH00995:41:23WJ53LT4:4:2323:1307:29669,LH00995:41:23WJ53LT4:6:2291:22447:19762,LH00995:41:23WJ53LT4:6:2291:22455:19748,LH00995:41:23WJ53LT4:6:2291:22463:19762

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48620851

CDS/splice-site

deletion/read-through

391

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(7)

TATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA___GTCTAGATCATCCCCATTGTCTGTCATACAAATTAGAGCTTGGATCAGACCAAGAAATTCCCTCTGATTGGTATCCATTTGCTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCA

YESAYQAVVWKIDRLPDKNSSLDHPHCLSYKLELGSDQEIPSDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|PKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSKATEDFFRNSIQSPLFTL

LH00995:41:23WJ53LT4:3:1446:28263:13863,LH00995:41:23WJ53LT4:4:1355:52088:1350,LH00995:41:23WJ53LT4:4:1355:52105:1350,LH00995:41:23WJ53LT4:4:2482:17536:9632,LH00995:41:23WJ53LT4:5:2243:41660:15489,LH00995:41:23WJ53LT4:5:2413:6987:24204,LH00995:41:23WJ53LT4:6:1355:49208:19230,LH00995:41:23WJ53LT4:6:1355:49224:19230,LH00995:41:23WJ53LT4:3:1110:32575:23097,LH00995:41:23WJ53LT4:3:2318:13006:12350,LH00995:41:23WJ53LT4:3:2318:13014:12336,LH00995:41:23WJ53LT4:6:2334:41798:17352

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48621167

CDS/splice-site

deletion/read-through

248

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(2)

CTTGAATCTGAACCTGTCATTCAAGTCACTGTGGGGTCAGC??AATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___GGCACTTCAAACTCCAGTGCAAACTTTACTT

LESEPVIQVTVGSA?YESAYQAVVWKIDRLPDKNS|tlgnqgfav*

LH00995:41:23WJ53LT4:4:2201:6412:14970,LH00995:41:23WJ53LT4:5:2170:20367:1897,LH00995:41:23WJ53LT4:1:1332:43311:24008,LH00995:41:23WJ53LT4:4:2409:21087:13933

DNAAF4

CCPG1

-/-

chr15:55432497

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

143

1605

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000321149.7

ENST00000310958.10

upstream

downstream

duplicates(6),low_entropy(1)

TTcTAAGGCACTGGAATTATTGATGCCACCTGTTACAGACAATGCTAATGCAAGAATGAAGGCACATGTACGACGTGGAACAGCATTCTGTCAACTAGAATTGTATGTAGAAG|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCATCTTGTGGTTGGACTGTCATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCCCCAGAATGTTCATCTTTAGAGCAAGA

skALELLMPPVTDNANARMKAHVRRGTAFCQLELYVE|dlkdv*

LH00995:41:23WJ53LT4:1:1414:38068:1673,LH00995:41:23WJ53LT4:1:2263:3977:10472,LH00995:41:23WJ53LT4:4:1481:43513:1518,LH00995:41:23WJ53LT4:5:1268:48181:9800,LH00995:41:23WJ53LT4:5:1381:2214:27259,LH00995:41:23WJ53LT4:3:1258:7933:23013,LH00995:41:23WJ53LT4:3:1258:7941:22999,LH00995:41:23WJ53LT4:3:1258:7949:22985,LH00995:41:23WJ53LT4:3:2102:16193:27343,LH00995:41:23WJ53LT4:5:2393:10999:15657,LH00995:41:23WJ53LT4:5:2449:7707:15475,LH00995:41:23WJ53LT4:6:2279:23490:27735

RAD51D

RFFL

-/-

chr17:35101201

chr17:35026561

CDS/splice-site

5'UTR/splice-site

deletion/read-through

561

1210

low

out-of-frame

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

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

duplicates(3)

GGGAGGCTCAAACCTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTCCCCAACAGGCTTGGAACCAAGCTGCAAGTCCTGTGGGGC

GRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|ilscgqpaatgsawmdslrrshhprepgcrpiptlgtapslpqqawnqaaspvg

LH00995:41:23WJ53LT4:1:2253:20513:24989,LH00995:41:23WJ53LT4:2:1129:24963:8595,LH00995:41:23WJ53LT4:4:2115:32106:27609,LH00995:41:23WJ53LT4:6:1257:31896:3396,LH00995:41:23WJ53LT4:1:1398:13006:13639,LH00995:41:23WJ53LT4:2:1121:15926:20155,LH00995:41:23WJ53LT4:4:1417:24833:23083

PCDHA5

PCDHAC1

+/+

chr5:140824127

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

low

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(7)

GGTCGTACTCGCAGCAGAGGAGACAGAGGGTGTGCTCTGGGGAAGCTCCACCCAAAACAGACCTCATGGCCTTCAGTCCAAGCCTTCCTCAGGGTCCCACCTCTACAGACAAC|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAGGAGAAGTGTCCCC

SYSQQRRQRVCSGEAPPKTDLMAFSPSLPQGPTSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVS

LH00995:41:23WJ53LT4:1:1274:17318:10178,LH00995:41:23WJ53LT4:1:1284:14664:8469,LH00995:41:23WJ53LT4:1:1410:37267:3480,LH00995:41:23WJ53LT4:2:2462:36329:22453,LH00995:41:23WJ53LT4:3:2209:47275:21262,LH00995:41:23WJ53LT4:3:2290:41312:10682,LH00995:41:23WJ53LT4:4:2165:20683:16652,LH00995:41:23WJ53LT4:4:2184:16864:7684,LH00995:41:23WJ53LT4:4:2298:48610:24583,LH00995:41:23WJ53LT4:6:1366:39654:12686,LH00995:41:23WJ53LT4:6:2216:17593:10626

PCDHA5

PCDHA13

+/+

chr5:140824127

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

low

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(7)

SYSQQRRQRVCSGEAPPKTDLMAFSPSLPQGPTSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVS

PCDHA5

PCDHAC2

+/+

chr5:140824127

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

low

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(7)

SYSQQRRQRVCSGEAPPKTDLMAFSPSLPQGPTSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVS

PSMD10P2

PSMD10P1

+/+

chr3:186761661

chr20:50914283

exon

translocation

low

ENSG00000226652.3

ENSG00000228663.1

ENST00000626135.2

ENST00000436861.1

downstream

upstream

duplicates(1)

CACTCCTCTACACTTAGCCTGTGATGAGGAGAGAGTGGAAGAAG|CAAAACTGCTGGTGTCCCAAGGAGC

LH00995:41:23WJ53LT4:1:1432:9139:3214,LH00995:41:23WJ53LT4:2:2407:50721:13303,LH00995:41:23WJ53LT4:3:2122:25941:8749,LH00995:41:23WJ53LT4:3:2229:27624:25283,LH00995:41:23WJ53LT4:5:1140:43092:17044

C1QTNF3

AMACR

-/-

chr5:34020587

chr5:34005899

CDS

CDS/splice-site

deletion/read-through

186

4252

low

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(1)

GATACATCCAGCAATCATGCTGTGCTGAAGCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTGGCCACGATATCAACTATTTGGCTTTGTtAG___GTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAgTCCGTATGCCCCGCTGAATCTCCTGGCTGACTTTGCTGGT

DTSSNHAVLKLAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcqaewiwpvrkllpvswpryqlfgfvrcslknwqkw*

LH00995:41:23WJ53LT4:2:1298:7432:4573,LH00995:41:23WJ53LT4:2:2393:23628:21948,LH00995:41:23WJ53LT4:1:1363:35310:17044,LH00995:41:23WJ53LT4:1:1454:44443:12995,LH00995:41:23WJ53LT4:3:2120:30957:17464

ING5

+/+

chr2:241723271

chr2:241704653

CDS/splice-site

duplication/non-canonical_splicing

732

845

low

out-of-frame

Inhibitor_of_growth_proteins_N-terminal_histone-binding(100%)|Inhibitor_of_growth_proteins_N-terminal_histone-binding(92%)

ENSG00000168395.16

ENST00000313552.11

ENST00000636051.1

downstream

upstream

duplicates(2)

TGACACCATCCTGTCCGTGCACCCCTCTGATGTGCTGGACATGCCCGTGGACCCAAACGAACCCACGTACTGCCTGTGCCACCAGGTCTCCTATGGGGAGATGATTGGCTGTGACAATCCAGAC___TGTCCAATTGAGTGGTTTCACTTTGCCTGCGTGGACCTTACCACGAAACCCAAAGGAAAATG|GTATCGAGAACCTTCCCTGCGAACTTCAGAGGAACTTCCAGCTGATGCGAGAGCTGGACCAGAGGACGGAAG___ATAAGAAAGCAGAGATTGACATCCTGGCTGCAGAGTACATCTCCACGGTGAAGACGCTGTCTCCAGACCAGCGCGTGGAGCGCCTGCAGAAGATCCAGAACGCC

DTILSVHPSDVLDMPVDPNEPTYCLCHQVSYGEMIGCDNPDCPIEWFHFACVDLTTKPKGKw|yrepslrtseelpadaragpedgr*

LH00995:41:23WJ53LT4:4:2184:16096:26166,LH00995:41:23WJ53LT4:1:1195:30278:9113,LH00995:41:23WJ53LT4:2:2246:11185:27721,LH00995:41:23WJ53LT4:3:2157:37130:23896,LH00995:41:23WJ53LT4:3:2333:44597:12420,LH00995:41:23WJ53LT4:6:1139:42566:4867

FEM1C

PGGT1B

-/-

chr5:115542950

chr5:115231021

CDS/splice-site

deletion/read-through

1669

1055

low

out-of-frame

Ankyrin_repeats_(3_copies)(73%)|Prenyltransferase_and_squalene_oxidase_repeat(66%)

ENSG00000145780.8

ENSG00000164219.10

ENST00000274457.5

ENST00000419445.6

upstream

downstream

TGTAGAACACAAAGCTGATTTGGAAGTGTCAAACCGACATGGGCATACGTGCTTGATGATTTCATGTTACAAAGGACATAAAGAGATTGCTCAGTATTTACTTGAAAAGGGGGCAGATGTTAATAGAAAAAGTGTCAAAG|TCCTATGACAATGGACTGGCACAGGGAGCTGGACTTGAATCTCATG___GAGGATCAACTTTTTGTGGCATTGCCTCACTATGTCTGATGGGTAAACTAGAAGAAGTTTTTTCAGAAAAAGAATTGAACAGGATAAAGAGGTGGTGTATAAT

VEHKADLEVSNRHGHTCLMISCYKGHKEIAQYLLEKGADVNRKSVK|vl*

LH00995:41:23WJ53LT4:4:1129:28118:19216,LH00995:41:23WJ53LT4:1:2309:41887:28744,LH00995:41:23WJ53LT4:6:1162:15659:4559

FEM1C

PGGT1B

-/-

chr5:115542950

chr5:115222008

CDS/splice-site

deletion/read-through

1669

1003

low

in-frame

Ankyrin_repeats_(3_copies)(73%)|Prenyltransferase_and_squalene_oxidase_repeat(57%)

ENSG00000145780.8

ENSG00000164219.10

ENST00000274457.5

ENST00000419445.6

upstream

downstream

AGATTGCTCAGTATTTACTTGAAAAGGGGGCAGATGTTAATAGAAAAAGTGTCAAAG|GAGGATCAACTTTTTGTGGCATTGCCTCACTATGTCTGATGGGTAAACTAGAAGAAGTTTTTTCAGAAAAAGAATTGAAC

IAQYLLEKGADVNRKSVK|gGSTFCGIASLCLMGKLEEVFSEKEL

LH00995:41:23WJ53LT4:3:1427:27584:7530

PCDHA11

PCDHAC1

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

low

in-frame

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

ENSG00000249158.7

ENSG00000248383.5

ENST00000616325.1

ENST00000253807.3

downstream

upstream

duplicates(7),mismappers(1)

GGCAACGCCCACTGAGGGCGCGTGCGCGCCGGGGAAGCCCACGCTGGTGTGCTCCCGCGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCTGAGGAGGGCCCACCTAAGACGGACCTCATGGCCTTCAGCCCCAGTCTTCCTCTAGGTCTGAATAAAGAGGAGGAAGGGGAAAGACAGGAGCCAGGGTCAAATCACCCCGGACAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTG

ATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSAS

LH00995:41:23WJ53LT4:1:1413:25715:20043,LH00995:41:23WJ53LT4:1:2232:28530:22733,LH00995:41:23WJ53LT4:2:2281:27422:15573,LH00995:41:23WJ53LT4:2:2344:38416:27974,LH00995:41:23WJ53LT4:3:2410:48901:27749,LH00995:41:23WJ53LT4:4:1407:29598:20968,LH00995:41:23WJ53LT4:4:2348:17237:10486,LH00995:41:23WJ53LT4:4:2444:29598:9393,LH00995:41:23WJ53LT4:4:2478:29177:26769,LH00995:41:23WJ53LT4:5:1207:22430:25788,LH00995:41:23WJ53LT4:6:2130:51627:11257

PCDHA11

PCDHA13

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

low

in-frame

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

ENSG00000249158.7

ENSG00000239389.8

ENST00000616325.1

ENST00000289272.3

downstream

upstream

duplicates(7),mismappers(1)

ATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSAS

PCDHA11

PCDHAC2

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

749

low

in-frame

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

ENSG00000249158.7

ENSG00000243232.6

ENST00000616325.1

ENST00000289269.7

downstream

upstream

duplicates(7),mismappers(1)

ATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSAS

SMARCA2

PA2G4

+/+

chr9:2103694

chr12:56104752

intron

CDS

translocation

5053

low

BRK_domain(100%),HSA_domain(100%),QLQ(100%),SNF2-related_domain(100%)|Metallopeptidase_family_M24(100%)

ENSG00000080503.24

ENSG00000170515.14

ENST00000552766.5

downstream

upstream

duplicates(1)

AGAGAGAGAGAGAGAGAGGGCGAGGA|CGAGCAACAGGAGCAAACTATCGCTGAGGACCTGGTCGTGACCAAGTATAAGATGGGGGGCGACATCGCCAACA___GGGTACTTCGGTCCTTGGTGGAAGCATCTAGCTCAGGTGTGTCGGTACTGAGC

LH00995:41:23WJ53LT4:1:2248:7464:27497,LH00995:41:23WJ53LT4:5:2232:32575:5498,LH00995:41:23WJ53LT4:5:2254:10392:1687,LH00995:41:23WJ53LT4:6:1381:25998:3186

AGAP3

HOXD11

+/+

chr7:151086814

chr2:176107588

CDS

translocation

108

low

in-frame

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

ENSG00000133612.19

ENSG00000128713.14

ENST00000397238.7

ENST00000249504.7

downstream

upstream

duplicates(2),low_entropy(1),mismappers(1)

GCCCCGGGCCCGCCTCGGGCCCCACGGCTCCGAAGCCATGAACTTCCAGGCGGGCGGGGGGCAGAGCCCGCAGCAGCAGCAGAGCCTGGCGGCTCCGGGGGGCGGCGGCG|GCGGCGGCGGCGGCAGCGCGGGGGGCGGC

MNFQAGGGQSPQQQQSLAAPGGGG|gGGGGSAGG

LH00995:41:23WJ53LT4:1:1420:15691:27231,LH00995:41:23WJ53LT4:1:2381:5361:15363,LH00995:41:23WJ53LT4:2:1334:8855:24274,LH00995:41:23WJ53LT4:2:2345:4074:8118,LH00995:41:23WJ53LT4:2:2374:29760:26628,LH00995:41:23WJ53LT4:4:2233:16598:18347,LH00995:41:23WJ53LT4:6:2329:40803:3410

ATP5MF

PTCD1

-/-

chr7:99460086

chr7:99435268

CDS/splice-site

5'UTR/splice-site

deletion/read-through

10510

480

low

in-frame

Mitochondrial_F1F0-ATP_synthase__subunit_f(42%)|Pentacotripeptide-repeat_region_of_PRORP(100%),Pentatricopeptide_repeat_domain(100%)

ENSG00000241468.8

ENSG00000106246.18

ENST00000414062.5

ENST00000292478.9

upstream

downstream

duplicates(11)

TGGAGGTCAAACTGGGGGAGCTGCCAAGCTGGATCTTGATGCGGGACTTCAGTCCTAGTGGCATTTTCGGAGCGTTTCAAAGAG|GCCCTGGAGGGACAGGAAAGCCAGAAATGGACTTCGTGAGACTCGCTCGACTGTTCGCCAGGGCCCGCCCCATGGGACTGTTCATCCTGCAACACCTGGACCCCTGTAGAGCCAGGTGGGCAGGAGGCAGGGAGGGGCTGATGCaGC

EVKLGELPSWILMRDFSPSGIFGAFQR|gpggtgkpeMDFVRLARLFARARPMGLFILQHLDPCRARWAGGREGLMq

LH00995:41:23WJ53LT4:1:1316:7529:21976,LH00995:41:23WJ53LT4:3:1398:36628:18375,LH00995:41:23WJ53LT4:3:1398:36636:18361,LH00995:41:23WJ53LT4:3:2398:35666:15194,LH00995:41:23WJ53LT4:4:2176:3346:12322,LH00995:41:23WJ53LT4:5:2178:45010:6381,LH00995:41:23WJ53LT4:5:2484:43375:19188,LH00995:41:23WJ53LT4:6:1221:47784:28086,LH00995:41:23WJ53LT4:6:2135:39468:21696,LH00995:41:23WJ53LT4:1:1221:26435:24457,LH00995:41:23WJ53LT4:3:1468:1129:25830,LH00995:41:23WJ53LT4:5:1181:18345:24429,LH00995:41:23WJ53LT4:6:1280:21152:25199,LH00995:41:23WJ53LT4:6:1456:30302:5540

PCDHB14

PCDHB15

+/+

chr5:141223541

chr5:141245484

CDS/splice-site

5'UTR

deletion/read-through

182

215

low

out-of-frame

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

ENSG00000120327.7

ENSG00000113248.6

ENST00000239449.7

ENST00000231173.6

downstream

upstream

GGAACCATGGAGATCAGAGGGGCACTCGATCTGCGAAAAAGG|TTATCAACGCACAGATCGATCACTGCCTCTGTCCCATCGCTCCCTGAAGTAGCTCTGACTCCGGTTCCTTGAAAGGGGCGTGTACAGAAGTAAAGATGGAGCCTGCAGGG

MEIRGALDLRKR|lsthrsitasvpslpevaltpvp*

LH00995:41:23WJ53LT4:2:2148:8087:26194,LH00995:41:23WJ53LT4:3:1130:47679:11173

LY75

CD302

-/-

chr2:159808449

chr2:159783469

CDS/splice-site

deletion/read-through

667

1252

low

in-frame

Fibronectin_type_II_domain(100%),Lectin_C-type_domain(94%)|Lectin_C-type_domain(99%)

ENSG00000054219.11

ENSG00000241399.7

ENST00000263636.5

ENST00000429078.6

upstream

downstream

duplicates(3)

AAAAAATTGTGTTCAAAACATG___ATCACTCTGCAACTATCGTTTCCATAAAAGATGAAGATGAGAATAAATTTGTGAGCAGACTGATGAGGGAAAATAATAACATTACCATGAGAGTTTGGCTTGGATTATCTCAACATTCTGTTG|ACTGTCCTTCATCTACTTGGATTCAGTTCCAAGACAGTTGTTACATTTTTCTCCAAGAAGCCATCAAAGTAGAAAGCATAGAGGATGTCAGAAATCAGTGTACTGACCATGG

KKLCSKHDHSATIVSIKDEDENKFVSRLMRENNNITMRVWLGLSQHSV|dCPSSTWIQFQDSCYIFLQEAIKVESIEDVRNQCTDH

LH00995:41:23WJ53LT4:3:2476:22155:19959,LH00995:41:23WJ53LT4:5:1295:11331:4741,LH00995:41:23WJ53LT4:5:2431:45082:7263,LH00995:41:23WJ53LT4:6:1391:51368:14144,LH00995:41:23WJ53LT4:4:1364:38869:19482,LH00995:41:23WJ53LT4:4:2227:1777:29081

LY75

CD302

-/-

chr2:159806973

chr2:159783469

CDS/splice-site

deletion/read-through

874

1252

low

in-frame

Fibronectin_type_II_domain(100%),Lectin_C-type_domain(100%)|Lectin_C-type_domain(99%)

ENSG00000054219.11

ENSG00000241399.7

ENST00000263636.5

ENST00000429078.6

upstream

downstream

duplicates(10),read_through(6)

TGGAAGATGTAGCATGTTGATAGCTTCAAATGAAACTTGGAAAAAAGTTGAATGTGAACATGGTTTTGGAAGAGTTGTCTGCAAAGTGCCTCTGG|ACTGTCCTTCATCTACTTGGATTCAGTTCCAAGACAGTTGTTACATTTTTCTCCAAGAAGCCATCAAAGTAGAAAGCATAGAGGATGTCAGAAATCAGTGTACTGACCATGG

GRCSMLIASNETWKKVECEHGFGRVVCKVPL|dCPSSTWIQFQDSCYIFLQEAIKVESIEDVRNQCTDH

LH00995:41:23WJ53LT4:1:1144:16986:8483,LH00995:41:23WJ53LT4:1:2317:37971:4195,LH00995:41:23WJ53LT4:2:2278:30577:28828,LH00995:41:23WJ53LT4:2:2278:30593:28828,LH00995:41:23WJ53LT4:2:2278:30609:28828,LH00995:41:23WJ53LT4:3:1108:14017:1771,LH00995:41:23WJ53LT4:3:1379:43189:23294,LH00995:41:23WJ53LT4:4:1228:1736:1659,LH00995:41:23WJ53LT4:4:1306:43044:25311,LH00995:41:23WJ53LT4:4:2102:24906:8889,LH00995:41:23WJ53LT4:4:2219:10595:13695,LH00995:41:23WJ53LT4:5:2310:19348:26530,LH00995:41:23WJ53LT4:6:1195:22422:25578,LH00995:41:23WJ53LT4:6:1239:3047:19987,LH00995:41:23WJ53LT4:6:2319:9171:17871,LH00995:41:23WJ53LT4:5:2261:22252:17549

MCM10

+/+

chr10:13186280

chr10:13172376

CDS/splice-site

duplication/non-canonical_splicing

201

272

low

out-of-frame

Primase_zinc_finger(54%)|Mcm10_replication_factor(100%),Primase_zinc_finger(100%)

ENSG00000065328.17

ENST00000378714.8

downstream

upstream

AGGTGTGTTTATCTATCGATCATCCTCAGAAGGTCTTAATTATGGGTGAAGCTCTTGACCTGGGAACCTGTAAAGCCAAGAAGAAGAATGGAGAGCCGTGCACGCAGACTGTGAATTTG|AGGAATTAAGGAATTTGCAAGAGCAAATGAAGGCCTTACAAGAGCAGCTAAAAGTAACAACAATTAAACAGACAGCAAGCCCAGCCCGTCTGCAAAAATCCCCTG___AGAAGTCTCCCCGGCCACCTCTTAAGGAGAGGAGAGTTCAGAGAATTCAGGAGTCAACATGCTTTTCTGCGGAGCTTGATG

VCLSIDHPQKVLIMGEALDLGTCKAKKKNGEPCTQTVNL|rn*

LH00995:41:23WJ53LT4:1:2242:14446:5036,LH00995:41:23WJ53LT4:2:2465:5207:11846,LH00995:41:23WJ53LT4:6:2389:25035:26012

DECR2

INCENP

+/+

chr16:406397

chr11:62150057

CDS/splice-site

translocation

640

822

low

in-frame

Enoyl-(Acyl_carrier_protein)_reductase(18%),short_chain_dehydrogenase(100%)|Inner_centromere_protein__ARK_binding_region(100%)

ENSG00000242612.7

ENSG00000149503.13

ENST00000219481.10

ENST00000394818.8

downstream

upstream

duplicates(1)

GTGGCCTTCATCACAGGAGGCGGCTCTGGGATTGGGTTCCGGATTGCTGAGATTTTCATGCG___GCACGGCTGCCATACGGTGATTGCCAGTAGGAGCCTGCCGCGAGTGCTGACG|TCTCCAGCTTGTACCTCATATCAGATGACTCCGCAAGGGCACAGGGCCCCTCCCAAGATCAACCCAGATAACTACGGGATGGATCTGAATAGCGACGACTCCACCGATGATGAGGCCCA

VAFITGGGSGIGFRIAEIFMRHGCHTVIASRSLPRVLT|SPACTSYQMTPQGHRAPPKINPDNYGMDLNSDDSTDDEA

LH00995:41:23WJ53LT4:3:1452:51538:13261,LH00995:41:23WJ53LT4:2:2425:25043:20141,LH00995:41:23WJ53LT4:6:1389:28846:10893

SLC2A9

OPHN1

-/-

chr4:9980592

chrX:68113239

CDS/splice-site

translocation

351

385

low

out-of-frame

Sugar_(and_other)_transporter(36%)|RhoGAP_domain(56%)

ENSG00000109667.12

ENSG00000079482.14

ENST00000506583.5

ENST00000680612.1

upstream

downstream

duplicates(1)

CTCCCCATGTACCTcAGTGAGATCTCACCCAAGGAGATCCGTGGCTCTCTGGGGCAGGTGACTGCCATCTTTATCTGCATTGGCGTGTTCACTGGGCAGCTTCTGGGCCTGCCCGAGCTGCTGGGAAAG|GAATCTTTCTGAACCTGTCATGACCTATAGACTTCACAAAGAGCTGGTCTCTGCTGCCA___AGTCTGACAACCTGGATTACCGCCTAGGAGCTATTCACTCCCTGGTATATAAGCTACCAGAAAAG

LPMYLSEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGK|esf*

LH00995:41:23WJ53LT4:5:1233:37915:16091,LH00995:41:23WJ53LT4:1:1436:13572:12882,LH00995:41:23WJ53LT4:3:2354:50381:28044

HSDL2

GARNL3

+/+

chr9:112405722

chr9:127243079

CDS/splice-site

5'UTR/splice-site

deletion

1844

low

out-of-frame

short_chain_dehydrogenase(44%)|CNH_domain(100%),Rap/ran-GAP(100%)

ENSG00000119471.15

ENSG00000136895.19

ENST00000398803.1

ENST00000439286.5

downstream

upstream

duplicates(2)

GGCCTTGCCATGTATTGTTGATGTGAGAGATGAACAGCAGATCAGTGCTGCAGTGGAGAAAGCCATCAAGAAATTTGGAG|GACAGCTGCCCAGCCTCCAGGCCCACTGATGGACCCGTTAACGAAGGTGCCTTGTGGGAGTCAGATAGCACAAACCATTCTATGGAAAGCAAAGTCGTCTCTCTCCTTCGGCATCCAGCCCCTTCAG

ALPCIVDVRDEQQISAAVEKAIKKFG|gqlpslqah*

LH00995:41:23WJ53LT4:3:1431:4026:15965,LH00995:41:23WJ53LT4:2:1322:43400:11579,LH00995:41:23WJ53LT4:2:1322:43408:11593,LH00995:41:23WJ53LT4:2:2130:10045:5316

NME4

INCENP

+/+

chr16:406397

chr11:62150057

3'UTR/splice-site

CDS/splice-site

translocation

640

822

low

stop-codon

Nucleoside_diphosphate_kinase(100%)|Inner_centromere_protein__ARK_binding_region(100%)

ENSG00000103202.13

ENSG00000149503.13

ENST00000444498.5

ENST00000394818.8

downstream

upstream

duplicates(1)

LH00995:41:23WJ53LT4:3:1452:51538:13261,LH00995:41:23WJ53LT4:2:2425:25043:20141,LH00995:41:23WJ53LT4:6:1389:28846:10893

RASGRF2

SNX18

+/+

chr5:81113920

chr5:54543179

CDS/splice-site

duplication

215

1571

low

in-frame

PH_domain(100%),RasGEF_N-terminal_motif(100%),RhoGEF_domain(100%)|WASP-binding_domain_of_Sorting_nexin_protein(34%)

ENSG00000113319.13

ENSG00000178996.14

ENST00000265080.9

ENST00000381410.5

downstream

upstream

GCTGCGTCTCCACCACCACACACTGGTCAGATACCACTGGATCTCAGCAGAGGCCTCTCTTCTCCAGAGCAAAGCCCGGGAACGGTAGAAGAGAATGTCGATAACCCACGCGTGGATCTGTGTAACAAGCTAAAACGAAGTATTCAAAAAG|GAGCTCTTACCAAAGTCAAGGAGAGTAGGCGACACGTGGAGGAAGGGAAGATGGAGGTGCAGAAGGCTGACGGCATTCAGGATCGCTG

AASPPPHTGQIPLDLSRGLSSPEQSPGTVEENVDNPRVDLCNKLKRSIQK|gALTKVKESRRHVEEGKMEVQKADGIQDR

LH00995:41:23WJ53LT4:6:1263:17827:27231,LH00995:41:23WJ53LT4:3:2364:47655:28422

ZNF644

STAM

-/-

+/+

chr1:90982310

chr10:17660464

CDS/splice-site

translocation

841

977

low

in-frame

|SH3_domain(100%),Ubiquitin_interaction_motif(100%),VHS_domain(94%)

ENSG00000122482.21

ENSG00000136738.15

ENST00000347275.9

ENST00000377524.8

upstream

TTTGATTTAATTTTGGATGAGATCGTTCTTGCAGCAAGATGTTAATAAGACAAAATCTAG|AGAAAGCAACCAGCGAGATGAATACTGCTGAGGACTGGGGCCTCATTTTGGATATCTGTGATAAAGTTGGTCAGTCTCGCACTGG___GGTCATCCTAAAGTATGTGAAAAATTAAAGGCTCTTATGGTTGA

MLIRQNL|eKATSEMNTAEDWGLILDICDKVGQSRTgvilkyvkn*

LH00995:41:23WJ53LT4:4:2455:29008:6997,LH00995:41:23WJ53LT4:5:1146:29380:22719

FYN

ZNF638

-/-

+/+

chr6:111780566

chr2:71355719

5'UTR/splice-site

CDS/splice-site

translocation

236

2608

low

|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc-finger_double-stranded_RNA-binding(100%)

ENSG00000010810.17

ENSG00000075292.19

ENST00000354650.7

ENST00000410075.5

upstream

GTTGTAGAAGACATGTGGTGTATATAAAGTTTGTGATCGTTGGCGGAaATTTTG|GATTGGATTCAGCATCAAAATACATCTACTCATATTGAGAGCTGTCGACAGTTACGTCAACA___GTATCCTGATTGGAATCCTGAGATCCTCC

LH00995:41:23WJ53LT4:3:2278:8936:17240,LH00995:41:23WJ53LT4:4:1234:1154:19454

AC254629.1

RABGAP1

-/-

+/+

chr7:100964720

chr9:122957011

exon/splice-site

5'UTR/splice-site

translocation

2357

418

low

|Kinesin_protein_(100%),Phosphotyrosine_interaction_domain_(PTB/PID)(100%),Rab-GTPase-TBC_domain(100%)

ENSG00000274993.1

ENSG00000011454.18

ENST00000618276.1

ENST00000373647.9

upstream

duplicates(1)

GCTCACTCTGGGAGTCCTGGCAGCTGTTCgCATCCTGGCTGGCGTTCTGgAGCCCCTCCTTCAGCGTGGTCTTCACCTGCTCATACTCGCTCTCCAGCTGGGGGCTGAAGGGCATCTCCAGCAGGACCAG|GCATTAAAAAATATTTAATCATTCATGTGTTGAGACTCATTCTTGAGTTATGGAT

LH00995:41:23WJ53LT4:5:2157:26419:2541,LH00995:41:23WJ53LT4:5:2157:26435:2541,LH00995:41:23WJ53LT4:6:2336:21039:8160

CTSC

SESN3

-/-

chr11:88334937

chr11:95193522

CDS/splice-site

duplication

6163

3955

low

stop-codon

Cathepsin_C_exclusion_domain(68%)|PA26_p53-induced_protein_(sestrin)(100%)

ENSG00000109861.17

ENSG00000149212.12

ENST00000678554.1

ENST00000536441.7

upstream

downstream

duplicates(3)

CTGGGCACCTGGGTCTTCCAGGTGGGCTCCAGCGGTTCCCAGCGCGATGTCAACTGCTCGGTTATGG___GACCACAAGAAAAAAA-GTAGTGGTGTACCTTCAGAAGCTGGATACAGCATATGATGACCTTGGCAATTCTGGCCATTTCACCATCATTTACAACCAAGGCTTTGAGATTGTGTTGAATGACTACAAGTGGTTTGCCTTTTTTAAG|GATAAAAGAATCAGAGTGTCTCAACCCTTGACAAGAGGACCAAGTGCCTTTATTCCAGAGAAGGAA___GTTGTCCAAGCAAACACAGTGGATGAACGTACTAACTTTCTTGTGGAAGAATACTCTACATCCGGTCGTCTGGACAACATCACACAGGTCATGAGTTTACACACTCAGTACCTGGAGTCTTTCTTGCGGAGCCAGTTTTACATGTTGCGC

LH00995:41:23WJ53LT4:4:1277:34994:5484,LH00995:41:23WJ53LT4:6:1217:48780:29137,LH00995:41:23WJ53LT4:6:2126:49281:23167,LH00995:41:23WJ53LT4:1:1109:5425:5302,LH00995:41:23WJ53LT4:6:1326:49119:24793

PDSS2

ATG5

-/-

chr6:107334198

chr6:106293106

CDS/splice-site

deletion

552

1986

low

in-frame

Polyprenyl_synthetase(17%)|Autophagy_protein_Apg5_(99%)

ENSG00000164494.12

ENSG00000057663.16

ENST00000369037.9

ENST00000636437.1

upstream

downstream

duplicates(7)

GTCAGAACTATGACATGGTCAGTGGGATCTACTCATG|GCATTATCCAATTGGTTTGCTATTTGATCTTCTTGCATCAAGTTCAGCTCTTCCTTGGAACATCACAGTACATTTTAAG___AGTTTTCCAGAAAAAGACCTTCTGCACTGTCCATC...AAAAGTCAAGTAATCAATGAAATGCAGAAAAAAGATCACAAGCAACTCTGGATGGGATTGCAAAATG___ACAGATTTGACCAGTTTTGGGCCATCAATCGGAAACTCATGGAATATCCTGCAGAAGAAAATGGATTTCGTTATATCCCCTTTAG

QNYDMVSGIYSw|HYPIGLLFDLLASSSALPWNITVHFKSFPEKDLLHCP

LH00995:41:23WJ53LT4:1:1295:2116:15180,LH00995:41:23WJ53LT4:1:2184:21274:15573,LH00995:41:23WJ53LT4:1:2184:21282:15559,LH00995:41:23WJ53LT4:3:2153:3055:9576,LH00995:41:23WJ53LT4:3:2153:3063:9590,LH00995:41:23WJ53LT4:4:1378:9041:19776,LH00995:41:23WJ53LT4:4:1378:9058:19776,LH00995:41:23WJ53LT4:4:2192:38554:9884,LH00995:41:23WJ53LT4:4:2192:38562:9870

MANBA

DPYD

-/-

chr4:102650537

chr1:97699547

CDS/splice-site

translocation

492

1079

low

in-frame

Glycosyl_hydrolases_family_2__TIM_barrel_domain(100%)|4Fe-4S_dicluster_domain(100%),Dihydroorotate_dehydrogenase(100%),Dihydroprymidine_dehydrogenase_domain_II__4Fe-4S_cluster(4%),Pyridine_nucleotide-disulphide_oxidoreductase(100%)

ENSG00000109323.11

ENSG00000188641.14

ENST00000644159.1

ENST00000370192.8

upstream

downstream

duplicates(1)

TTTCACTTCATCGACAACATCACGAAGGTGGTAACAAACAAATGCTTTATCAGGCTGGACTTCATTTCAAACTCCCCCAAAGCACAGATCCATTACGCACATTTAAAGATACCATCTACCTTACTCAG|GTATTCAAAGCAgTGAGTATCCCACAGATCAGAAATCCTTCGCTGCCTCCtCCAGAAAAAAT

SLHRQHHEGGNKQMLYQAGLHFKLPQSTDPLRTFKDTIYLTQ|VFKAvSIPQIRNPSLPPPEK

LH00995:41:23WJ53LT4:5:2482:22544:11467,LH00995:41:23WJ53LT4:5:2482:22560:11467,LH00995:41:23WJ53LT4:5:2494:50066:13429

EXT1

BCAR1

-/-

chr8:118110085

chr16:75243090

CDS/splice-site

translocation

1012

5574

low

out-of-frame

Exostosin_family(73%)|Crk-Associated_Substrate_C-terminal_domain(100%),SH3_domain(100%),Serine_rich_protein_interaction_domain(100%)

ENSG00000182197.12

ENSG00000050820.17

ENST00000378204.7

ENST00000393422.6

upstream

downstream

duplicates(3)

GGAGGACGTTGTGCTCCTCACCACCTGCAAGCATGGCAAAGACTGGCAAAAGCACAAGGATTCTCGCTGTGACAGAGACAACACCGAGTATGAGAA|AACGTGCTGGCCAAAGCGCTCTATGACAATGTGGCCGAGTCCCCGGATGAGCTCTCCTTCCGCAAGGGTGACATCATGACGGTGCTGGAGCAGGACACGCAGGGCCTGGACGGCTGGTGGCTCTGCTCGCTGCATaGGC

EDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEk|tcwpkrsmtmwpsprmsspsarvts*

LH00995:41:23WJ53LT4:1:2129:34396:6016,LH00995:41:23WJ53LT4:2:2492:20020:27049,LH00995:41:23WJ53LT4:3:2365:28093:20435,LH00995:41:23WJ53LT4:5:1411:2383:14045,LH00995:41:23WJ53LT4:6:1405:49103:12630

GPATCH2

EXOC4

-/-

+/+

chr1:217630916

chr7:133288922

CDS/splice-site

translocation

1075

2035

low

out-of-frame

|Sec8_exocyst_complex_component_specific_domain(51%)

ENSG00000092978.11

ENSG00000131558.15

ENST00000366935.8

ENST00000253861.5

upstream

duplicates(1)

CCGGTGCTGTTGTAGTTGGAGTCTGTTCACGGGCCTGAGCTTCGAGGCCAGGCTCCtGGGTGTCGTTAATGTTCGGGGCCGCCGGGCGCCAACCGATCGGAGCTCCAGCAGCCGGGAACAGCTG|GTAAAAGAGAACCTGCTTTCATGCAAGATGCTGCTGCACTGCAAACGGGATGAGCTTCGGAAACTGTGGATTGAAGGAATTGAGCATAAGCATGTCCTGAACTTGTTGGATGAAATTGAGAATATCAAGCAAGTGCC

MFGAAGRQPIGAPAAGNSw|*

LH00995:41:23WJ53LT4:5:1234:23854:27806,LH00995:41:23WJ53LT4:5:2493:9616:18165,LH00995:41:23WJ53LT4:2:1307:39355:22621

MYO18A

KCTD17

-/-

+/+

chr17:29097223

chr22:37061539

CDS/splice-site

translocation

515

2087

low

out-of-frame

Myosin_head_(motor_domain)(100%),Myosin_tail(41%),PDZ_domain(100%)|

ENSG00000196535.17

ENSG00000100379.17

ENST00000527372.7

ENST00000402077.7

upstream

duplicates(5)

AGGACAAGCTGGAGGTGGAGCAGCAGAACAAGAGGCAGCTGGAACGGCGG|GTTCCCGTCCGCACCCTCTCAGACCTGAGGCTGAGCTTGCAGTGAGGGCTTCTCCTCGGCCCCTCGCCCGCCCCCAGAGCTGCCATCCCTG___CTGTTACAAGCCAGAGGCACCCGGATGTGAGGCCCCAGATCACCTCC

DKLEVEQQNKRQLERR|vpvrtlsdlrlslq*

LH00995:41:23WJ53LT4:2:2172:40358:1126,LH00995:41:23WJ53LT4:3:2272:14615:13709,LH00995:41:23WJ53LT4:3:2272:14632:13709,LH00995:41:23WJ53LT4:5:2317:31661:8987,LH00995:41:23WJ53LT4:5:2444:12561:14550,LH00995:41:23WJ53LT4:6:1137:7391:17114,LH00995:41:23WJ53LT4:6:2252:43222:4853

PAN3

NHLRC3

+/+

chr13:28272071

chr13:39039136

CDS/splice-site

deletion

2262

3735

low

in-frame

|NHL_repeat(100%)

ENSG00000152520.14

ENSG00000188811.14

ENST00000380958.8

ENST00000379599.6

downstream

upstream

duplicates(1)

GCCCAGGCAGCATGCTGGATTATTGCCAGAATCTCTTATTTGGGCATATATTGTCCAACTAAGTTCTGCATTGCGTACCATTCATACAGCAGGTTTGGCATGTCGAGTTATGGATCCAACAAAGATTCTGATAACTGGCAAAACAAG___GTTGCGAGTAAATTGTGTTGGAGTTTTTGATGTTTTAACATTTGATAACAGTCAAAATAATAATCCATTGGCATTAATGGCCCAGTACCAG|GTTTTGAGGAACTTTACTTTTGCAGTTTCCTGGAGAACTGAGAAAATTCTTTACCGGCTGGATGTGGGTTGGCCTAAGCACCCAGAATATTTTACCGGAACAACATTTTGTGTTGCAGTTGACTCCCTCAATGGATTGGTTTACATAGGTCAA___AGAGGGGATAACATCCCAAAGATATTAGTGTTCACAGAGGATGGATATTTCCTACGAGC

PRQHAGLLPESLIWAYIVQLSSALRTIHTAGLACRVMDPTKILITGKTRLRVNCVGVFDVLTFDNSQNNNPLALMAQYQ|VLRNFTFAVSWRTEKILYRLDVGWPKHPEYFTGTTFCVAVDSLNGLVYIGQRGDNIPKILVFTEDGYFLR

LH00995:41:23WJ53LT4:2:1238:6703:27693,LH00995:41:23WJ53LT4:2:1238:6703:27721,LH00995:41:23WJ53LT4:5:2203:20100:28814

LMO7

KLF5

+/+

chr13:75761038

chr13:73061861

CDS/splice-site

duplication

8003

8326

low

out-of-frame

Calponin_homology_(CH)_domain(100%)|Zinc_finger__C2H2_type(100%)

ENSG00000136153.20

ENSG00000102554.14

ENST00000341547.8

ENST00000377687.6

downstream

upstream

duplicates(3)

GGCTGGAGGAGGCAGAGGCCAACTGCTCCGTGGCGTTCGCTGAGGCTCAGAGATGGGTGGAG___TTTGATTAATAAGCTTAAACCTGGCGTCATTAAGAAGATCAATAGACTGTCTACACCAATAGCAGGATTG___GATAATATAAACGTTTTCTTGAAAGCTTGTGAACAGATTGGATTGAAAGAAGCCCAGCTTTTCCATCCTGGAGATCTACAGGATTTATCAAATCGAGTCACTGTCAA|ACAAGATGTGAAATGGAGAAGTATCTGACACCTCAGCTTCCTCCAGTTCCTATAATTCCAGAGCATAAAAAGTATAGACGAGACAGTGCCTCAGTCGTAGACCAGTTCTTCACTGACACTGAAGGGTTACCTTACAGTATCAACATGAACGTCTTCCTCCC

gwrrqrptapwrslrlrdgwsLINKLKPGVIKKINRLSTPIAGLDNINVFLKACEQIGLKEAQLFHPGDLQDLSNRVTVk|qdvkwrsi*

LH00995:41:23WJ53LT4:2:1261:3629:25479,LH00995:41:23WJ53LT4:3:1119:41143:1140,LH00995:41:23WJ53LT4:3:2156:34784:7978,LH00995:41:23WJ53LT4:3:2156:34800:7978,LH00995:41:23WJ53LT4:3:2156:34808:7992

SYTL4

EPAS1

-/-

+/+

chrX:100681227

chr2:46346873

CDS/splice-site

translocation

474

12071

low

out-of-frame

C2_domain(50%),FYVE-type_zinc_finger(100%)|HIF-1_alpha_C_terminal_transactivation_domain(100%),Hypoxia-inducible_factor-1(100%),PAS_fold(100%)

ENSG00000102362.15

ENSG00000116016.14

ENST00000276141.10

ENST00000263734.5

upstream

CAGAGATCCAGATGGATTCCTGGAAGCTTGATAAGAAACTGGATCATTGCCTCCCTTTACATGGAAAG___ATCAGTGCTGAGTCCCCGACTGGCTTGCCATCACACAAAGGCGAGTTGGTGGTTTCATTGAAATACATCCCAGCCTCCAAAACCCCTGTTGGAGGTGACCGGAAAAAGA|GAGTAGCTCGGAGAGGAGGAAGGAGAAGTCCCGGGATGCTGCGCGGTGCCGGCGGAGCAAGGAGACGGAGGTGTTCTATGAGCTGGCCCATGAGCTGCCTtTGCC

EIQMDSWKLDKKLDHCLPLHGKISAESPTGLPSHKGELVVSLKYIPASKTPVGGDRKK|rvarrggrrspgmlrgaggarrrrcsmswpmsclc

LH00995:41:23WJ53LT4:5:2155:13928:3522,LH00995:41:23WJ53LT4:3:1225:19809:16568

AL049828.1

MIA2

+/+

chr14:39672919

chr14:39276934

intron

CDS/splice-site

duplication

2509

low

ENSG00000258526.7

ENSG00000150527.17

ENST00000341502.9

downstream

upstream

GGGAAGTGGCAGATCTAACCAGAATGTCAAAATATTTACACTGCACCCTGCTTGGCTAGG|GTTGTGGCAGCACTGCCTGAAGGTATGAGACCAGATTCTAATCTTTATGGTTTTCCATGGGAATTGGTGATATGTGCAGCTGTTGTTGGATTTTTTGCTGTTCTCTTTTTTTT[t]GTGGAGAAGTTTTAGATCG___GTTAGGAGTCGGCTTTATGTG

LH00995:41:23WJ53LT4:5:1111:25577:27735

AKR1C6P(69308),U8(1153)

AKR1E2

./+

+/+

chr10:4961283

chr10:4830675

intergenic

CDS/splice-site

duplication

508

low

|Aldo/keto_reductase_family(100%)

ENSG00000165568.18

ENST00000533295.5

downstream

upstream

duplicates(1)

CTTCAAATGCGCTATCCCTATGTGTATTGATTATATCTTCATCCTGCTCAAAGTTGCTATTGAAACACCCTCTG|GCTTCTCCAGGGAAAGTGACCGAGGCAGTGAAAGAGGCCATTGACGCAGGGTACCGGCACTTCGACTGTGC

LH00995:41:23WJ53LT4:1:2137:37898:24891,LH00995:41:23WJ53LT4:4:1462:31936:1617

226 rows