File Info

Filename
aih-tih-sc-49909d-R1_A23YTGFLT4_1.arriba.fusions.tsv
Full Path
s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/49/cbec295baf9983e987ca2b5b384fa9/aih-tih-sc-49909d-R1_A23YTGFLT4_1.arriba.fusions.tsv
Size
503.5 KB
Task
NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-49909d-R1_A23YTGFLT4_1)
Attempt

Content

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#gene1 gene2 strand1(gene/fusion) strand2(gene/fusion) breakpoint1 breakpoint2 site1 site2 type split_reads1 split_reads2 discordant_mates coverage1 coverage2 confidence reading_frame tags retained_protein_domains closest_genomic_breakpoint1 closest_genomic_breakpoint2 gene_id1 gene_id2 transcript_id1 transcript_id2 direction1 direction2 filters fusion_transcript peptide_sequence read_identifiers
STX16 NPEPL1 +/+ +/+ chr20:58673711 chr20:58691724 CDS/splice-site 5'UTR/splice-site deletion/read-through 89 54 0 1731 588 high . . SNARE_domain(49%),Syntaxin(100%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%) . . ENSG00000124222.22 ENSG00000215440.12 ENST00000464640.5 ENST00000525967.5 downstream upstream duplicates(157),mismappers(5),mismatches(11) TCTTTACCATCGG___...GAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|G?TGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGAC?CCTGGGTGGAGC . 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T4:5:2382:16274:21038,LH00995:48:23YTGFLT4:5:2384:20100:19650,LH00995:48:23YTGFLT4:5:2384:20109:19636,LH00995:48:23YTGFLT4:5:2397:36175:24008,LH00995:48:23YTGFLT4:5:2405:32268:9449,LH00995:48:23YTGFLT4:5:2406:19793:3032,LH00995:48:23YTGFLT4:5:2415:38085:20841,LH00995:48:23YTGFLT4:6:1158:40423:21220,LH00995:48:23YTGFLT4:6:1183:11792:8987,LH00995:48:23YTGFLT4:6:1183:11808:8987,LH00995:48:23YTGFLT4:6:1191:33214:21878,LH00995:48:23YTGFLT4:6:1291:25157:21122,LH00995:48:23YTGFLT4:6:1386:2133:21766,LH00995:48:23YTGFLT4:6:1394:5870:21514,LH00995:48:23YTGFLT4:6:1394:5870:21542,LH00995:48:23YTGFLT4:6:1394:5878:21528,LH00995:48:23YTGFLT4:6:1407:26362:23350,LH00995:48:23YTGFLT4:6:1409:5361:1266,LH00995:48:23YTGFLT4:6:1409:5377:1266,LH00995:48:23YTGFLT4:6:1409:8216:21934,LH00995:48:23YTGFLT4:6:1424:21670:7544,LH00995:48:23YTGFLT4:6:1429:15392:25115,LH00995:48:23YTGFLT4:6:1445:31693:4951,LH00995:48:23YTGFLT4:6:1469:14429:2345,LH00995:48:23YTGFLT4:6:2153:33352:23434,LH00995:48:23YTGFLT4:6:2153:33400:24246,LH00995:48:23YTGFLT4:6:2158:47663:12126,LH00995:48:23YTGFLT4:6:2164:9066:16680,LH00995:48:23YTGFLT4:6:2172:48173:8048,LH00995:48:23YTGFLT4:6:2175:29841:15643,LH00995:48:23YTGFLT4:6:2288:12706:12364,LH00995:48:23YTGFLT4:6:2397:11379:14550,LH00995:48:23YTGFLT4:6:2432:2116:27175,LH00995:48:23YTGFLT4:6:2435:30480:11201,LH00995:48:23YTGFLT4:6:2492:29048:20603,LH00995:48:23YTGFLT4:7:1170:23709:3564,LH00995:48:23YTGFLT4:7:1219:30917:26362,LH00995:48:23YTGFLT4:7:1309:14543:11593,LH00995:48:23YTGFLT4:7:1313:36669:9533,LH00995:48:23YTGFLT4:7:1354:21411:11635,LH00995:48:23YTGFLT4:7:1357:32446:2023,LH00995:48:23YTGFLT4:7:1376:9689:3130,LH00995:48:23YTGFLT4:7:1466:50260:29431,LH00995:48:23YTGFLT4:7:2139:13426:16974,LH00995:48:23YTGFLT4:7:2156:43853:5890,LH00995:48:23YTGFLT4:7:2170:24477:2513,LH00995:48:23YTGFLT4:7:2170:24485:2499,LH00995:48:23YTGFLT4:7:2280:36353:3466,LH00995:48:23YTGFLT4:7:2477:41628:21094,LH00995:48:23YTGFLT4:8:1233:43545:18866,LH00995:48:23YTGFLT4:8:1277:11379:8076,LH00995:48:23YTGFLT4:8:1327:45875:17492,LH00995:48:23YTGFLT4:8:1333:36353:4923,LH00995:48:23YTGFLT4:8:1352:44249:1448,LH00995:48:23YTGFLT4:8:1365:37955:29389,LH00995:48:23YTGFLT4:8:1385:50042:4671,LH00995:48:23YTGFLT4:8:1385:50050:4685,LH00995:48:23YTGFLT4:8:1391:18329:19861,LH00995:48:23YTGFLT4:8:1483:20448:1673,LH00995:48:23YTGFLT4:8:2203:42963:14970,LH00995:48:23YTGFLT4:8:2276:36005:22789,LH00995:48:23YTGFLT4:8:2293:22333:3929,LH00995:48:23YTGFLT4:8:2439:20003:6311,LH00995:48:23YTGFLT4:8:2467:31208:27876
STX16 NPEPL1 +/+ +/+ chr20:58673711 chr20:58693737 CDS/splice-site CDS/splice-site deletion/read-through 3 1 0 1731 7092 low in-frame . SNARE_domain(49%),Syntaxin(100%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(74%) . . ENSG00000124222.22 ENSG00000215440.12 ENST00000361830.7 ENST00000525967.5 downstream upstream duplicates(5) GGAGACGATAACACTCTTTACCATCGG___...GAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|CTCTGGCAGGCTGCCCTGAGCACGCTCAACCCCAACCCCACGGACAGCTGTCCCCTCTACCTGAACTACGCCACCGTGGCTGCCCTGCCCTGCAGGGTGAGCCGGCACAACAGCC EIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|LWQAALSTLNPNPTDSCPLYLNYATVAALPCRVSRHNS LH00995:48:23YTGFLT4:3:2156:5789:12938,LH00995:48:23YTGFLT4:4:1455:46247:1687,LH00995:48:23YTGFLT4:6:1248:12156:9113,LH00995:48:23YTGFLT4:6:1265:15853:16273,LH00995:48:23YTGFLT4:8:2346:15724:24232,LH00995:48:23YTGFLT4:4:1305:1429:27329,LH00995:48:23YTGFLT4:5:2312:43295:22579,LH00995:48:23YTGFLT4:6:1326:17350:22145,LH00995:48:23YTGFLT4:8:1392:22228:23055
STX16 NPEPL1 +/+ +/+ chr20:58652087 chr20:58691724 CDS/splice-site 5'UTR/splice-site deletion/read-through 0 2 0 4188 588 low out-of-frame . |Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%) . . ENSG00000124222.22 ENSG00000215440.12 ENST00000355957.9 ENST00000525967.5 downstream upstream duplicates(2) AGGCGTTTAACCGACGCTTTCTTGTTGTTGCGGAATAATTCCATCCAAAACCGGCAGCTGTTAGCCGAGCAA|GtTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACcCC RRLTDAFLLLRNNSIQNRQLLAEQ|vgyeeetqnnrsglwnymevteegtnqrplsnqdvg* LH00995:48:23YTGFLT4:1:2143:2594:22229,LH00995:48:23YTGFLT4:2:2241:12180:8539,LH00995:48:23YTGFLT4:6:2178:19089:21822,LH00995:48:23YTGFLT4:7:1462:13192:19398
STX16 NPEPL1 +/+ +/+ chr20:58671297 chr20:58691724 CDS/splice-site 5'UTR/splice-site deletion/read-through 2 0 0 2401 588 low out-of-frame . Syntaxin(99%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%) . . ENSG00000124222.22 ENSG00000215440.12 ENST00000361830.7 ENST00000525967.5 downstream upstream duplicates(1) CACCAGCTTCCGGCACGCACAGTCAGGCTACCTCAAAC___GCATGAAGAATCGAGAGGAAAGATCCCAGCATTTTTTCGACACATCAGTACCACTAATGGATGATGGAGACGATAACACTCTTTACCATCGG___GGTTTTACAGAGGACCAGTTAGTTCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGA TSFRHAQSGYLKRMKNREERSQHFFDTSVPLMDDGDDNTLYHRGFTEDQLVLVEQNTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQ|agyeeetqnnrsglwnymevt LH00995:48:23YTGFLT4:7:1354:50389:23770,LH00995:48:23YTGFLT4:7:1358:48682:28969,LH00995:48:23YTGFLT4:7:1358:48699:28969
TVP23C CDRT4 -/- -/- chr17:15503098 chr17:15440285 CDS 5'UTR/splice-site deletion/read-through 21 33 0 795 241 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(44) AGACGGTCTCGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCA RRSRHIAQTGLKVLGSRDPPASAFQSAGITGVSRCPGHPSRKFHQ|esepvmlrnq* LH00995:48:23YTGFLT4:1:1192:12399:21360,LH00995:48:23YTGFLT4:1:1382:8022:16526,LH00995:48:23YTGFLT4:1:2102:23296:27231,LH00995:48:23YTGFLT4:1:2381:19736:24961,LH00995:48:23YTGFLT4:2:1192:20327:13177,LH00995:48:23YTGFLT4:2:1216:19219:20869,LH00995:48:23YTGFLT4:2:1382:37187:12700,LH00995:48:23YTGFLT4:2:2113:1251:20099,LH00995:48:23YTGFLT4:2:2162:21532:4727,LH00995:48:23YTGFLT4:2:2169:22705:6815,LH00995:48:23YTGFLT4:2:2291:1396:15082,LH00995:48:23YTGFLT4:2:2367:8338:1883,LH00995:48:23YTGFLT4:2:2371:19639:1729,LH00995:48:23YTGFLT4:2:2468:13337:18978,LH00995:48:23YTGFLT4:2:2468:13353:18978,LH00995:48:23YTGFLT4:2:2478:45535:24302,LH00995:48:23YTGFLT4:2:2498:10579:18375,LH00995:48:23YTGFLT4:3:1279:22778:27988,LH00995:48:23YTGFLT4:3:1279:22786:27974,LH00995:48:23YTGFLT4:3:1380:37753:23041,LH00995:48:23YTGFLT4:3:2137:37607:22285,LH00995:48:23YTGFLT4:3:2244:41838:16217,LH00995:48:23YTGFLT4:3:2321:30884:3494,LH00995:48:23YTGFLT4:3:2469:34679:6451,LH00995:48:23YTGFLT4:3:2492:22439:24401,LH00995:48:23YTGFLT4:4:1226:11080:4867,LH00995:48:23YTGFLT4:4:2245:46458:1462,LH00995:48:23YTGFLT4:4:2282:31985:26530,LH00995:48:23YTGFLT4:4:2290:46611:1532,LH00995:48:23YTGFLT4:4:2352:46555:18445,LH00995:48:23YTGFLT4:5:1225:18863:8903,LH00995:48:23YTGFLT4:5:1225:18871:8889,LH00995:48:23YTGFLT4:5:1258:32737:28702,LH00995:48:23YTGFLT4:5:1301:37640:11888,LH00995:48:23YTGFLT4:5:1319:47590:2780,LH00995:48:23YTGFLT4:5:1319:47598:2766,LH00995:48:23YTGFLT4:5:1457:31710:29529,LH00995:48:23YTGFLT4:5:2140:49047:2247,LH00995:48:23YTGFLT4:5:2147:22196:14368,LH00995:48:23YTGFLT4:5:2389:22940:10640,LH00995:48:23YTGFLT4:6:1361:43432:6815,LH00995:48:23YTGFLT4:6:1486:50009:25297,LH00995:48:23YTGFLT4:6:2142:49370:14017,LH00995:48:23YTGFLT4:6:2172:21791:13163,LH00995:48:23YTGFLT4:6:2181:45770:8651,LH00995:48:23YTGFLT4:6:2222:30609:20085,LH00995:48:23YTGFLT4:6:2222:30626:20085,LH00995:48:23YTGFLT4:6:2254:19639:3046,LH00995:48:23YTGFLT4:6:2430:12892:19188,LH00995:48:23YTGFLT4:7:1168:25213:10122,LH00995:48:23YTGFLT4:7:1168:25221:10108,LH00995:48:23YTGFLT4:7:1179:36353:3214,LH00995:48:23YTGFLT4:7:1184:46320:21626,LH00995:48:23YTGFLT4:7:1368:17034:23868,LH00995:48:23YTGFLT4:7:1404:42486:1729,LH00995:48:23YTGFLT4:7:1459:31499:3158,LH00995:48:23YTGFLT4:7:2118:51627:29109,LH00995:48:23YTGFLT4:7:2180:24631:28170,LH00995:48:23YTGFLT4:7:2271:48860:3802,LH00995:48:23YTGFLT4:8:1145:37915:27077,LH00995:48:23YTGFLT4:8:1278:4859:29123,LH00995:48:23YTGFLT4:8:1278:5263:25143,LH00995:48:23YTGFLT4:8:1309:36701:26348,LH00995:48:23YTGFLT4:8:1331:26597:14872,LH00995:48:23YTGFLT4:8:1365:5668:21444,LH00995:48:23YTGFLT4:8:1455:34096:21388,LH00995:48:23YTGFLT4:8:2250:39840:13429,LH00995:48:23YTGFLT4:8:2286:20351:9239,LH00995:48:23YTGFLT4:8:2480:4212:23714,LH00995:48:23YTGFLT4:1:1296:5992:18782,LH00995:48:23YTGFLT4:1:1444:30512:4671,LH00995:48:23YTGFLT4:1:2381:41846:17717,LH00995:48:23YTGFLT4:2:1235:18612:14438,LH00995:48:23YTGFLT4:2:1278:15182:12504,LH00995:48:23YTGFLT4:2:1278:15198:12504,LH00995:48:23YTGFLT4:2:1457:11913:26180,LH00995:48:23YTGFLT4:2:2403:43149:16301,LH00995:48:23YTGFLT4:3:1319:37154:22817,LH00995:48:23YTGFLT4:3:2172:29776:18641,LH00995:48:23YTGFLT4:4:1109:29396:15713,LH00995:48:23YTGFLT4:4:1351:13774:23378,LH00995:48:23YTGFLT4:4:2315:43286:18529,LH00995:48:23YTGFLT4:4:2390:16816:11467,LH00995:48:23YTGFLT4:4:2439:5118:17464,LH00995:48:23YTGFLT4:5:1345:48035:26642,LH00995:48:23YTGFLT4:5:2371:7723:19678,LH00995:48:23YTGFLT4:5:2371:7739:19678,LH00995:48:23YTGFLT4:6:2285:49346:15685,LH00995:48:23YTGFLT4:6:2453:47615:11649,LH00995:48:23YTGFLT4:7:1168:28255:15391,LH00995:48:23YTGFLT4:7:1168:28263:15405,LH00995:48:23YTGFLT4:7:1197:24566:23686,LH00995:48:23YTGFLT4:7:1223:20845:15447,LH00995:48:23YTGFLT4:7:2309:36612:27904,LH00995:48:23YTGFLT4:7:2452:4972:5050,LH00995:48:23YTGFLT4:7:2475:13491:13667,LH00995:48:23YTGFLT4:8:1284:41822:14760,LH00995:48:23YTGFLT4:8:2438:48877:14031
TVP23C CDRT4 -/- -/- chr17:15540433 chr17:15440285 CDS/splice-site 5'UTR/splice-site deletion/read-through 12 5 0 1796 241 medium out-of-frame . Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%) . . ENSG00000175106.17 ENSG00000239704.11 ENST00000428082.6 ENST00000619038.5 upstream downstream duplicates(39),low_entropy(1) TTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG___...GGCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCC AVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq* LH00995:48:23YTGFLT4:3:2296:43270:8609,LH00995:48:23YTGFLT4:3:2347:27479:5638,LH00995:48:23YTGFLT4:4:1397:6679:26614,LH00995:48:23YTGFLT4:4:2168:14260:1855,LH00995:48:23YTGFLT4:7:2160:39500:27133,LH00995:48:23YTGFLT4:7:2294:34905:6647,LH00995:48:23YTGFLT4:8:1434:4932:2906,LH00995:48:23YTGFLT4:1:1249:12027:23490,LH00995:48:23YTGFLT4:1:1280:33336:17156,LH00995:48:23YTGFLT4:1:2107:45277:3116,LH00995:48:23YTGFLT4:1:2452:31491:26460,LH00995:48:23YTGFLT4:2:1313:19720:19917,LH00995:48:23YTGFLT4:2:2163:11460:26628,LH00995:48:23YTGFLT4:2:2215:2869:23097,LH00995:48:23YTGFLT4:2:2226:51490:8581,LH00995:48:23YTGFLT4:2:2420:27559:23966,LH00995:48:23YTGFLT4:3:2246:36992:3676,LH00995:48:23YTGFLT4:3:2307:37842:13471,LH00995:48:23YTGFLT4:3:2392:5490:2163,LH00995:48:23YTGFLT4:4:1226:34687:26586,LH00995:48:23YTGFLT4:4:1226:34703:26586,LH00995:48:23YTGFLT4:4:1283:21541:25928,LH00995:48:23YTGFLT4:4:2129:35625:15937,LH00995:48:23YTGFLT4:4:2447:27123:4741,LH00995:48:23YTGFLT4:5:1333:13410:4391,LH00995:48:23YTGFLT4:5:2155:4576:14592,LH00995:48:23YTGFLT4:5:2252:49799:1925,LH00995:48:23YTGFLT4:5:2437:7132:26418,LH00995:48:23YTGFLT4:6:1155:26572:8076,LH00995:48:23YTGFLT4:6:1155:26572:8104,LH00995:48:23YTGFLT4:6:1155:26581:8090,LH00995:48:23YTGFLT4:6:1208:43998:2331,LH00995:48:23YTGFLT4:6:1208:44015:2331,LH00995:48:23YTGFLT4:6:1442:40317:4671,LH00995:48:23YTGFLT4:6:1442:40334:4671,LH00995:48:23YTGFLT4:6:1488:5595:12630,LH00995:48:23YTGFLT4:6:2189:28724:8665,LH00995:48:23YTGFLT4:6:2237:1170:24358,LH00995:48:23YTGFLT4:6:2429:48901:12420,LH00995:48:23YTGFLT4:6:2429:48909:12406,LH00995:48:23YTGFLT4:6:2429:48917:12420,LH00995:48:23YTGFLT4:6:2463:15271:18992,LH00995:48:23YTGFLT4:6:2474:44031:25339,LH00995:48:23YTGFLT4:7:1168:18790:28422,LH00995:48:23YTGFLT4:7:1262:31289:14116,LH00995:48:23YTGFLT4:7:1306:15255:8539,LH00995:48:23YTGFLT4:7:1445:49564:18866,LH00995:48:23YTGFLT4:7:1487:36394:14438,LH00995:48:23YTGFLT4:7:2174:34420:17324,LH00995:48:23YTGFLT4:7:2344:19777:16708,LH00995:48:23YTGFLT4:8:1114:23692:5302,LH00995:48:23YTGFLT4:8:1214:48941:10556,LH00995:48:23YTGFLT4:8:1268:2545:3957,LH00995:48:23YTGFLT4:8:1326:39824:7207,LH00995:48:23YTGFLT4:8:1444:6242:5596,LH00995:48:23YTGFLT4:8:2292:9721:6381,LH00995:48:23YTGFLT4:8:2304:6404:1504
TVP23C CDRT4 -/- -/- chr17:15516419 chr17:15440285 3'UTR/splice-site 5'UTR/splice-site deletion/read-through 0 11 0 28 241 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(16) CGTCCACAAGCCAAGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACC . LH00995:48:23YTGFLT4:1:1476:25691:17310,LH00995:48:23YTGFLT4:1:2168:37510:18810,LH00995:48:23YTGFLT4:1:2238:40463:27119,LH00995:48:23YTGFLT4:1:2268:22746:17394,LH00995:48:23YTGFLT4:1:2409:35876:16708,LH00995:48:23YTGFLT4:1:2423:28061:22985,LH00995:48:23YTGFLT4:2:1457:43917:22901,LH00995:48:23YTGFLT4:3:1145:45657:28604,LH00995:48:23YTGFLT4:3:2478:33910:10809,LH00995:48:23YTGFLT4:4:1282:34938:10038,LH00995:48:23YTGFLT4:4:1282:34946:10024,LH00995:48:23YTGFLT4:4:1286:7739:20603,LH00995:48:23YTGFLT4:4:1292:41183:3144,LH00995:48:23YTGFLT4:4:1292:41199:3144,LH00995:48:23YTGFLT4:4:1292:41207:3158,LH00995:48:23YTGFLT4:4:1470:35900:22635,LH00995:48:23YTGFLT4:4:2381:42308:19020,LH00995:48:23YTGFLT4:4:2473:13192:8917,LH00995:48:23YTGFLT4:5:2365:5789:6072,LH00995:48:23YTGFLT4:6:1158:21994:13149,LH00995:48:23YTGFLT4:6:1457:49103:3746,LH00995:48:23YTGFLT4:7:1182:37648:22803,LH00995:48:23YTGFLT4:7:1319:29622:23195,LH00995:48:23YTGFLT4:7:2447:1849:22677,LH00995:48:23YTGFLT4:8:1198:10846:13989,LH00995:48:23YTGFLT4:8:1468:33918:14998,LH00995:48:23YTGFLT4:8:2471:17908:20141
TVP23C CDRT4 -/- -/- chr17:15540433 chr17:15438200 CDS/splice-site CDS/splice-site deletion/read-through 0 2 0 1796 488 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(1) GCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCAC ATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpms LH00995:48:23YTGFLT4:6:1259:47873:19720,LH00995:48:23YTGFLT4:6:2394:46967:10612,LH00995:48:23YTGFLT4:7:2264:39581:8609
TVP23C CDRT4 -/- -/- chr17:15545785 chr17:15438200 CDS/splice-site CDS/splice-site deletion/read-through 1 0 0 561 488 low out-of-frame . Eukaryotic_protein_of_unknown_function_(DUF846)(86%)|CMT1A_duplicated_region_transcript_4_protein(100%) . . ENSG00000175106.17 ENSG00000239704.11 ENST00000225576.7 ENST00000619038.5 upstream downstream duplicates(2) GAAGATGGAAAGAGCCATTGGGTGTTTGAATCTAGAAAG___GAGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GACTCACAGAAAACACTGGACTTCCCC EDGKSHWVFESRKESSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|dsqktldf LH00995:48:23YTGFLT4:5:1417:43206:9505,LH00995:48:23YTGFLT4:6:1229:23968:29179,LH00995:48:23YTGFLT4:8:2334:23272:26881
TVP23C CDRT4 -/- -/- chr17:15540433 chr17:15453085 CDS/splice-site 5'UTR/splice-site deletion/read-through 1 0 0 1796 9 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(2) TCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAACCCAGTGAAATGAGC SFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|epsem LH00995:48:23YTGFLT4:4:2225:33489:27175,LH00995:48:23YTGFLT4:6:1358:48043:18894,LH00995:48:23YTGFLT4:6:2254:38481:27637
KLRC4 KLRK1 -/- -/- chr12:10407636 chr12:10388875 3'UTR 5'UTR/splice-site deletion/read-through 18 6 0 204 486 high stop-codon . |Lectin_C-type_domain(100%) . . ENSG00000183542.5 ENSG00000213809.9 ENST00000309384.2 ENST00000396451.4 upstream downstream duplicates(29) CCTGAATAGAAGAATGCAGAAAG___CACGTCATTGTGGCCATTGTCCTGAGGAGTGGATTACATATTCCAACAGTTGTTATTACATTGGTAAGGAAAGAAGAACTTGGGAAGAAAGAGTTTGCTGGCCTGTGCTTCGAAGAACTCTGATCTGCTTTCTATAGATAATGAGGAAGAAATG|GAATCCTTTGTGCATTGAAGACTTTAGATTCCTCTCTGCGGTAGACGTGCACTTATAAGTATTTGATGGGGTGGATTCGTGGTCGGAGGTCTCGACACAGCTGGG___AGATGAGTGAATTTCATAATTATAACTTGGATCTGAAGAAGAGTGATTTTTCAA . LH00995:48:23YTGFLT4:1:2172:9009:23280,LH00995:48:23YTGFLT4:2:1185:10101:28142,LH00995:48:23YTGFLT4:2:1454:44985:12252,LH00995:48:23YTGFLT4:2:1454:44993:12238,LH00995:48:23YTGFLT4:3:1243:1841:20309,LH00995:48:23YTGFLT4:3:2420:24647:17156,LH00995:48:23YTGFLT4:7:1239:24599:19118,LH00995:48:23YTGFLT4:7:2148:45309:23181,LH00995:48:23YTGFLT4:8:1396:24226:6983,LH00995:48:23YTGFLT4:8:2127:8022:6829,LH00995:48:23YTGFLT4:1:1112:39516:3508,LH00995:48:23YTGFLT4:1:1382:29663:1771,LH00995:48:23YTGFLT4:1:1462:38263:14760,LH00995:48:23YTGFLT4:1:2296:18515:2219,LH00995:48:23YTGFLT4:1:2466:15538:10879,LH00995:48:23YTGFLT4:2:1481:1518:4279,LH00995:48:23YTGFLT4:2:1491:12682:6493,LH00995:48:23YTGFLT4:2:2134:49127:16736,LH00995:48:23YTGFLT4:2:2153:1105:4517,LH00995:48:23YTGFLT4:2:2436:22641:23574,LH00995:48:23YTGFLT4:3:1420:21516:11677,LH00995:48:23YTGFLT4:3:1420:21524:11691,LH00995:48:23YTGFLT4:3:1420:21532:11677,LH00995:48:23YTGFLT4:3:1470:45026:29417,LH00995:48:23YTGFLT4:3:1470:45034:29431,LH00995:48:23YTGFLT4:3:1470:45042:29417,LH00995:48:23YTGFLT4:3:2326:30067:8805,LH00995:48:23YTGFLT4:3:2465:26888:14788,LH00995:48:23YTGFLT4:3:2465:26904:14788,LH00995:48:23YTGFLT4:4:2439:20998:19160,LH00995:48:23YTGFLT4:5:1186:46288:16217,LH00995:48:23YTGFLT4:5:1339:46709:11930,LH00995:48:23YTGFLT4:5:2312:37413:27441,LH00995:48:23YTGFLT4:5:2312:37421:27427,LH00995:48:23YTGFLT4:5:2318:28328:4055,LH00995:48:23YTGFLT4:5:2484:48132:1196,LH00995:48:23YTGFLT4:6:1179:29412:27231,LH00995:48:23YTGFLT4:6:1185:20343:1406,LH00995:48:23YTGFLT4:6:1254:46628:2794,LH00995:48:23YTGFLT4:6:1362:30512:9996,LH00995:48:23YTGFLT4:6:1379:45196:24723,LH00995:48:23YTGFLT4:6:1379:45212:24723,LH00995:48:23YTGFLT4:6:1481:47364:24302,LH00995:48:23YTGFLT4:6:2313:49993:27147,LH00995:48:23YTGFLT4:6:2432:35051:14830,LH00995:48:23YTGFLT4:7:2337:31985:29109,LH00995:48:23YTGFLT4:7:2488:48100:11902,LH00995:48:23YTGFLT4:8:1284:1364:27918,LH00995:48:23YTGFLT4:8:1340:41919:2093,LH00995:48:23YTGFLT4:8:1340:41935:2093,LH00995:48:23YTGFLT4:8:1340:41935:2121,LH00995:48:23YTGFLT4:8:1340:41943:2107,LH00995:48:23YTGFLT4:8:2208:34282:7278
RPL23AP53 SEPTIN14 -/- -/- chr8:232129 chr7:55796092 exon/splice-site CDS/splice-site translocation 2 8 0 61 916 high . . . . . ENSG00000223508.5 ENSG00000154997.9 ENST00000606507.1 ENST00000388975.4 upstream downstream duplicates(6),mismatches(2) GAGCTTACCGACCTCCCGCCCCCGCTGCGCGCGTTTCTGGCCCTGCCAGTGTCTCCGCCGGTTGAAAGCGCGTGTCTGCGTCGGGTTCTGTTGGAGTGCGTTCGGTGTGCCGTGGGTCCGCGCTGCTTCCACCCAACTTCCTGTTAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGC . LH00995:48:23YTGFLT4:1:2375:14106:9547,LH00995:48:23YTGFLT4:1:2375:14122:9547,LH00995:48:23YTGFLT4:2:1333:17245:26250,LH00995:48:23YTGFLT4:3:1404:39411:5484,LH00995:48:23YTGFLT4:4:1133:21856:12938,LH00995:48:23YTGFLT4:4:2348:40237:18964,LH00995:48:23YTGFLT4:4:2466:31321:5008,LH00995:48:23YTGFLT4:5:2290:6809:8931,LH00995:48:23YTGFLT4:6:1272:2545:7768,LH00995:48:23YTGFLT4:8:1210:25173:22411,LH00995:48:23YTGFLT4:8:1210:25181:22425,LH00995:48:23YTGFLT4:8:2221:15077:23055,LH00995:48:23YTGFLT4:8:2221:15093:23055,LH00995:48:23YTGFLT4:2:1105:1760:10837,LH00995:48:23YTGFLT4:4:1297:41806:24933,LH00995:48:23YTGFLT4:4:1443:2602:21962,LH00995:48:23YTGFLT4:7:2435:45730:26825,LH00995:48:23YTGFLT4:8:1339:50284:22215
AC004921.2(10269),PTPN12(28061) FKBP15 ./+ -/- chr7:77509234 chr9:113176673 intergenic CDS/splice-site translocation 1 7 0 1 532 high . . . . . . ENSG00000119321.9 . ENST00000446284.6 downstream downstream duplicates(1),mismatches(1) GCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAAAAGTGAGGAGCCCCTCTGCCCGGCAGCCGCCCCGTCTGGGAG|AGCTCCAAGAAACCTCTGAGCAAGCACAGTCCAAATTCAAAAGTGAAAAGCAGAACCGGAAACAACTGGAACTCAAGGTGACATCCCTGGAGGAGGAACTGACTGACCTTCGAGTTGAGAAGGAGTCCTTGGAAAAG___AACCTCTCAGAAAGGAAAAAGAAGTCAGCTCAAGAGCGTTCTCAGGCCGAGG . LH00995:48:23YTGFLT4:2:2341:20958:2079,LH00995:48:23YTGFLT4:1:1272:26289:7838,LH00995:48:23YTGFLT4:1:1336:46353:15377,LH00995:48:23YTGFLT4:2:1438:48262:19552,LH00995:48:23YTGFLT4:3:1425:37276:25325,LH00995:48:23YTGFLT4:4:2254:8694:25367,LH00995:48:23YTGFLT4:4:2279:8297:3746,LH00995:48:23YTGFLT4:4:2409:15481:9015,LH00995:48:23YTGFLT4:7:2322:44581:7263,LH00995:48:23YTGFLT4:8:1366:41741:25802
TLK2 AL669831.1 +/+ -/- chr17:62560126 chr1:774280 CDS/splice-site exon/splice-site translocation 3 4 0 1326 1216 high . . . . . ENSG00000146872.18 ENSG00000228327.3 ENST00000578697.1 ENST00000506640.2 downstream downstream duplicates(7),mismatches(3),multimappers(3) TCCTGCAGCTCCCAAAAACAGATCTCCATCCAGCACAGACAGACCCAG___GCCAACTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAAG|ATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAACGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGG . LH00995:48:23YTGFLT4:1:1280:13548:5694,LH00995:48:23YTGFLT4:3:1352:50899:13247,LH00995:48:23YTGFLT4:5:1133:17245:23083,LH00995:48:23YTGFLT4:5:1336:46903:9183,LH00995:48:23YTGFLT4:5:2213:40059:29165,LH00995:48:23YTGFLT4:5:2224:14098:12336,LH00995:48:23YTGFLT4:6:2245:21007:21696,LH00995:48:23YTGFLT4:8:1188:27584:11874,LH00995:48:23YTGFLT4:8:2209:50155:4727,LH00995:48:23YTGFLT4:1:2163:16484:26839,LH00995:48:23YTGFLT4:2:1167:25707:22579,LH00995:48:23YTGFLT4:2:2315:39355:15559,LH00995:48:23YTGFLT4:3:1462:39565:26657,LH00995:48:23YTGFLT4:3:2249:4543:18291,LH00995:48:23YTGFLT4:3:2321:33967:6675,LH00995:48:23YTGFLT4:4:2297:6291:26026,LH00995:48:23YTGFLT4:6:1289:43173:13905,LH00995:48:23YTGFLT4:6:1289:43181:13891,LH00995:48:23YTGFLT4:7:2430:16557:7095,LH00995:48:23YTGFLT4:8:1290:17601:11705
SDHDP6 TEX12 -/- +/+ chr1:25294330 chr11:112170419 exon CDS/splice-site translocation 1 3 0 223 46 high . . |Testis-expressed_12(100%) . . ENSG00000224183.1 ENSG00000150783.10 ENST00000414693.1 ENST00000280358.5 upstream upstream duplicates(1) GCCACCATTCTGGCTCCAAGGCTGCATCTCTCCACTGGACTAGCGAGAGGGTTGTCAGTGTTTTGCTCCtGGGTCTGCTTCCGGCTGCTTATTTGAATCCTTGCTCTGCGAtGGACTATTCCCTGGCTGCAGCCCTCACTCTTCATGGTCACTG|TCTCCAGTGCCAGATAGTCCACAGCTGTCCTCTCTTGGAAAATCAGATTCATCTTTCTCTGAAATTTCCGGACTATTTTATAAAGATGAAGCCTTGGAGAAAGATTTAAATGGT . LH00995:48:23YTGFLT4:8:2457:40059:17282,LH00995:48:23YTGFLT4:5:1304:21751:16652,LH00995:48:23YTGFLT4:6:2451:20149:20295,LH00995:48:23YTGFLT4:6:2496:14017:3760,LH00995:48:23YTGFLT4:8:1266:45252:3214
ACIN1 ACIN1 -/- -/- chr14:23079590 chr14:23079595 CDS CDS duplication/ITD 90 192 0 2197 2449 medium in-frame . SAP_domain(100%)|RNSP1-SAP18_binding_(RSB)_motif(100%) . . ENSG00000100813.14 ENSG00000100813.14 ENST00000262710.5 ENST00000262710.5 upstream downstream duplicates(246),mismappers(72) GGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACC SHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATP 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C15orf39 C15orf39 +/+ +/+ chr15:75208290 chr15:75208285 CDS CDS duplication/ITD 156 26 0 5260 2550 medium in-frame . Family_of_unknown_function_(DUF5525)(71%)|Family_of_unknown_function_(DUF5525)(29%) . . ENSG00000167173.19 ENSG00000167173.19 ENST00000360639.6 ENST00000360639.6 downstream upstream duplicates(292),mismappers(43) AGCCTGGCACTGCCCAGCCCTCCAGCCGTAGCTGTGGCCTCCCCTGCCCCTGCTCCAGCTCCATCCCCTGCTCCGGCTCGAGCTCAGGCTCCAGCTTCAGCCCGGGATCCAGCTCCAGCTCCAGCTCCAG|CTCCAGTTGCAGGCCCTGCTCCAGCATCTACTTCAGCCCCAGGGGACTCCCTGGAGCAGCATTTTACAGGACTACATGCGTCCCTGTGTGATGCTATTTCTGGCTCCGTCGCCC SLALPSPPAVAVASPAPAPAPSPAPARAQAPASARDPAPAPAP|aPVAGPAPASTSAPGDSLEQHFTGLHASLCDAISGSVA 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ZNF814 ZNF814 -/- -/- chr19:57874500 chr19:57874583 CDS CDS duplication/ITD 62 36 0 707 774 medium in-frame . KRAB_box(96%),Zinc_finger__C2H2_type(9%)|KRAB_box(3%),Zinc_finger__C2H2_type(95%) . . ENSG00000204514.10 ENSG00000204514.10 ENST00000435989.7 ENST00000435989.7 upstream downstream duplicates(396),low_entropy(3) CACTAGAGAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACAT?A TREECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKKH 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LATS2 LATS2 -/- -/- chr13:20988344 chr13:20988349 CDS CDS duplication/ITD 57 30 0 1566 1667 medium in-frame . |Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000150457.9 ENSG00000150457.9 ENST00000382592.5 ENST00000382592.5 upstream downstream duplicates(112),mismappers(2) GGCCGCGCACATCTTGCACCCGGTGAAGAGCGTGCGTGTGCTGAGGCCGGAGCCGCAGACGGCTGTGGGGCCCTCGCACCCCGCCTGGGTGCCCGCGCCTGCCCCGGCCCCCGCCCCCGCCCCCGCCCC|CGCCCCGGCTGCGGAGGGCTTGGACGCCAAGGAGGAGCATGCCCTGGCGCTGGGCGGCGCAGGCGCCTTCCCGCTGGACGTGGAGTACGGAGGCCCAGACCGGAGGTGCCCGCCTCCGCC AAHILHPVKSVRVLRPEPQTAVGPSHPAWVPAPAPAPAPAPAp|APAAEGLDAKEEHALALGGAGAFPLDVEYGGPDRRCPPP LH00995:48:23YTGFLT4:1:1225:10328:4545,LH00995:48:23YTGFLT4:1:1306:3289:19174,LH00995:48:23YTGFLT4:1:1312:31071:5050,LH00995:48:23YTGFLT4:1:1331:28781:28716,LH00995:48:23YTGFLT4:1:1331:28789:28730,LH00995:48:23YTGFLT4:1:1468:2707:19090,LH00995:48:23YTGFLT4:1:1479:25116:18529,LH00995:48:23YTGFLT4:1:2243:38125:27777,LH00995:48:23YTGFLT4:1:2295:47202:4629,LH00995:48:23YTGFLT4:1:2313:5134:21892,LH00995:48:23YTGFLT4:1:2322:31394:14270,LH00995:48:23YTGFLT4:1:2408:15198:20323,LH00995:48:23YTGFLT4:1:2454:36305:12182,LH00995:48:23YTGFLT4:1:2455:40576:20113,LH00995:48:23YTGFLT4:1:2466:35480:9127,LH00995:48:23YTGFLT4:2:1136:13750:25269,LH00995:48:23YTGFLT4:2:1148:30787:20729,LH00995:48:23YTGFLT4:2:1156:8799:29697,LH00995:48:23YTGFLT4:2:1156:8807:29711,LH00995:48:23YTGFLT4:2:1257:26063:7249,LH00995:48:23YTGFLT4:2:1375:14494:17815,LH00995:48:23YTGFLT4:2:2105:1065:17058,LH00995:48:23YTGFLT4:2:2117:37324:13275,LH00995:48:23YTGFLT4:2:2126:42429:14130,LH00995:48:23YTGFLT4:2:2145:34064:16820,LH00995:48:23YTGFLT4:2:2165:32988:29109,LH00995:48:23YTGFLT4:2:2183:8273:25031,LH00995:48:23YTGFLT4:2:2185:13119:20225,LH00995:48:23YTGFLT4:2:2188:21557:27497,LH00995:48:23YTGFLT4:2:2230:41992:3760,LH00995:48:23YTGFLT4:2:2252:2675:15082,LH00995:48:23YTGFLT4:2:2271:50414:22103,LH00995:48:23YTGFLT4:2:2289:28757:3368,LH00995:48:23YTGFLT4:2:2427:17568:8847,LH00995:48:23YTGFLT4:2:2443:24469:14158,LH00995:48:23YTGFLT4:2:2497:42380:26040,LH00995:48:23YTGFLT4:3:1115:37753:19426,LH00995:48:23YTGFLT4:3:1115:50883:27203,LH00995:48:23YTGFLT4:3:1169:33303:1743,LH00995:48:23YTGFLT4:3:1185:48537:5008,LH00995:48:23YTGFLT4:3:1213:22236:21528,LH00995:48:23YTGFLT4:3:1225:29558:25241,LH00995:48:23YTGFLT4:3:1244:5951:16610,LH00995:48:23YTGFLT4:3:1253:35552:13317,LH00995:48:23YTGFLT4:3:1253:35560:13303,LH00995:48:23YTGFLT4:3:1266:3322:15979,LH00995:48:23YTGFLT4:3:1325:13329:14704,LH00995:48:23YTGFLT4:3:1332:42445:27974,LH00995:48:23YTGFLT4:3:1372:12221:6619,LH00995:48:23YTGFLT4:3:1393:24145:12981,LH00995:48:23YTGFLT4:3:1431:1963:13289,LH00995:48:23YTGFLT4:3:2120:23490:17310,LH00995:48:23YTGFLT4:3:2158:37170:22060,LH00995:48:23YTGFLT4:3:2201:19761:5050,LH00995:48:23YTGFLT4:3:2213:49378:23812,LH00995:48:23YTGFLT4:3:2215:42267:8749,LH00995:48:23YTGFLT4:3:2281:51328:14466,LH00995:48:23YTGFLT4:3:2327:32017:23420,LH00995:48:23YTGFLT4:3:2341:31208:8623,LH00995:48:23YTGFLT4:3:2444:40156:24625,LH00995:48:23YTGFLT4:3:2459:13920:17156,LH00995:48:23YTGFLT4:4:1118:48270:27021,LH00995:48:23YTGFLT4:4:1211:34711:16343,LH00995:48:23YTGFLT4:4:1284:7974:12602,LH00995:48:23YTGFLT4:4:1301:3467:5610,LH00995:48:23YTGFLT4:4:1336:11024:3901,LH00995:48:23YTGFLT4:4:1398:28393:25662,LH00995:48:23YTGFLT4:4:1472:47170:29263,LH00995:48:23YTGFLT4:4:1488:28239:14578,LH00995:48:23YTGFLT4:4:2130:49799:4979,LH00995:48:23YTGFLT4:4:2157:31022:26320,LH00995:48:23YTGFLT4:4:2169:28069:20169,LH00995:48:23YTGFLT4:4:2235:32794:28688,LH00995:48:23YTGFLT4:4:2298:33376:28884,LH00995:48:23YTGFLT4:4:2308:20416:6689,LH00995:48:23YTGFLT4:4:2366:19542:5960,LH00995:48:23YTGFLT4:4:2369:3872:16231,LH00995:48:23YTGFLT4:4:2423:48254:10879,LH00995:48:23YTGFLT4:4:2438:6420:25213,LH00995:48:23YTGFLT4:5:1105:43998:17969,LH00995:48:23YTGFLT4:5:1134:23846:5428,LH00995:48:23YTGFLT4:5:1169:26071:20407,LH00995:48:23YTGFLT4:5:1175:42429:23882,LH00995:48:23YTGFLT4:5:1407:4090:3774,LH00995:48:23YTGFLT4:5:1414:30650:9225,LH00995:48:23YTGFLT4:5:1418:49265:11593,LH00995:48:23YTGFLT4:5:2129:14365:15377,LH00995:48:23YTGFLT4:5:2148:29825:12252,LH00995:48:23YTGFLT4:5:2168:46021:7628,LH00995:48:23YTGFLT4:5:2176:50551:10935,LH00995:48:23YTGFLT4:5:2228:48852:26741,LH00995:48:23YTGFLT4:5:2234:2586:29305,LH00995:48:23YTGFLT4:5:2273:3783:21850,LH00995:48:23YTGFLT4:5:2274:32235:22537,LH00995:48:23YTGFLT4:5:2281:42065:29473,LH00995:48:23YTGFLT4:5:2445:8160:27301,LH00995:48:23YTGFLT4:5:2479:51004:11103,LH00995:48:23YTGFLT4:6:1241:29873:5638,LH00995:48:23YTGFLT4:6:1310:36515:9071,LH00995:48:23YTGFLT4:6:1351:43052:12014,LH00995:48:23YTGFLT4:6:1351:43068:12014,LH00995:48:23YTGFLT4:6:1373:42364:21976,LH00995:48:23YTGFLT4:6:1390:20626:20421,LH00995:48:23YTGFLT4:6:1414:4568:10682,LH00995:48:23YTGFLT4:6:1438:44476:19692,LH00995:48:23YTGFLT4:6:1477:25666:19398,LH00995:48:23YTGFLT4:6:2192:48472:29725,LH00995:48:23YTGFLT4:6:2218:4996:8034,LH00995:48:23YTGFLT4:6:2287:27381:7404,LH00995:48:23YTGFLT4:6:2415:43545:10795,LH00995:48:23YTGFLT4:6:2442:47477:6002,LH00995:48:23YTGFLT4:7:1154:37049:20982,LH00995:48:23YTGFLT4:7:1154:37057:20968,LH00995:48:23YTGFLT4:7:1155:38392:20645,LH00995:48:23YTGFLT4:7:1185:35569:2359,LH00995:48:23YTGFLT4:7:1190:17042:13485,LH00995:48:23YTGFLT4:7:2157:40552:9898,LH00995:48:23YTGFLT4:7:2215:29404:29403,LH00995:48:23YTGFLT4:7:2267:1858:13387,LH00995:48:23YTGFLT4:7:2310:16864:12000,LH00995:48:23YTGFLT4:7:2453:29444:21626,LH00995:48:23YTGFLT4:7:2466:29849:1308,LH00995:48:23YTGFLT4:8:1101:12277:28380,LH00995:48:23YTGFLT4:8:1128:27034:4195,LH00995:48:23YTGFLT4:8:1142:50519:9674,LH00995:48:23YTGFLT4:8:1202:27737:14186,LH00995:48:23YTGFLT4:8:1325:3645:23910,LH00995:48:23YTGFLT4:8:1342:7909:3410,LH00995:48:23YTGFLT4:8:1437:17059:16315,LH00995:48:23YTGFLT4:8:2290:34557:29277,LH00995:48:23YTGFLT4:8:2311:11064:13387,LH00995:48:23YTGFLT4:8:2425:4471:15447,LH00995:48:23YTGFLT4:8:2432:52096:8427,LH00995:48:23YTGFLT4:8:2461:31483:26642,LH00995:48:23YTGFLT4:8:2496:50276:13737,LH00995:48:23YTGFLT4:1:1175:28684:21486,LH00995:48:23YTGFLT4:1:1382:43820:13429,LH00995:48:23YTGFLT4:1:1423:31273:11677,LH00995:48:23YTGFLT4:1:2296:17795:26446,LH00995:48:23YTGFLT4:1:2391:44710:18081,LH00995:48:23YTGFLT4:1:2410:4090:11986,LH00995:48:23YTGFLT4:2:1108:17965:10262,LH00995:48:23YTGFLT4:2:1250:8524:3718,LH00995:48:23YTGFLT4:2:1257:19607:10809,LH00995:48:23YTGFLT4:2:2103:29954:18081,LH00995:48:23YTGFLT4:2:2213:18046:26516,LH00995:48:23YTGFLT4:2:2221:46264:10823,LH00995:48:23YTGFLT4:2:2344:43788:14858,LH00995:48:23YTGFLT4:2:2408:8216:5680,LH00995:48:23YTGFLT4:3:1108:21338:17114,LH00995:48:23YTGFLT4:3:1119:18652:13303,LH00995:48:23YTGFLT4:3:1195:34379:12882,LH00995:48:23YTGFLT4:3:1251:17787:17689,LH00995:48:23YTGFLT4:3:1296:24493:22046,LH00995:48:23YTGFLT4:3:1296:24510:22046,LH00995:48:23YTGFLT4:3:1345:24234:18684,LH00995:48:23YTGFLT4:3:1438:22746:19076,LH00995:48:23YTGFLT4:3:2209:29250:4587,LH00995:48:23YTGFLT4:3:2251:17059:10626,LH00995:48:23YTGFLT4:3:2475:24121:11341,LH00995:48:23YTGFLT4:4:1154:17326:11397,LH00995:48:23YTGFLT4:4:1184:23668:20673,LH00995:48:23YTGFLT4:4:1211:1445:10739,LH00995:48:23YTGFLT4:4:1394:38149:11874,LH00995:48:23YTGFLT4:4:1495:40503:14550,LH00995:48:23YTGFLT4:5:1194:42251:5526,LH00995:48:23YTGFLT4:5:1256:24510:20421,LH00995:48:23YTGFLT4:5:1362:48788:29179,LH00995:48:23YTGFLT4:5:1435:48820:4069,LH00995:48:23YTGFLT4:5:2243:47267:25900,LH00995:48:23YTGFLT4:5:2303:38740:5022,LH00995:48:23YTGFLT4:5:2345:36604:14214,LH00995:48:23YTGFLT4:5:2388:29687:25634,LH00995:48:23YTGFLT4:5:2393:1332:18754,LH00995:48:23YTGFLT4:5:2461:11258:7922,LH00995:48:23YTGFLT4:5:2464:39144:3536,LH00995:48:23YTGFLT4:6:1256:2950:13597,LH00995:48:23YTGFLT4:6:1366:1227:23476,LH00995:48:23YTGFLT4:6:1426:12245:19608,LH00995:48:23YTGFLT4:6:2139:16662:15881,LH00995:48:23YTGFLT4:6:2160:31532:22887,LH00995:48:23YTGFLT4:6:2237:15344:27890,LH00995:48:23YTGFLT4:6:2443:45738:25129,LH00995:48:23YTGFLT4:7:1181:3087:8875,LH00995:48:23YTGFLT4:7:1292:32915:11159,LH00995:48:23YTGFLT4:7:1352:33465:3788,LH00995:48:23YTGFLT4:7:1445:49095:16820,LH00995:48:23YTGFLT4:7:1447:28498:10935,LH00995:48:23YTGFLT4:7:1454:31653:19538,LH00995:48:23YTGFLT4:7:2128:33829:20365,LH00995:48:23YTGFLT4:7:2135:1453:24905,LH00995:48:23YTGFLT4:7:2444:7407:12714,LH00995:48:23YTGFLT4:8:1380:5361:21052,LH00995:48:23YTGFLT4:8:1451:49014:27217,LH00995:48:23YTGFLT4:8:1495:14526:22131,LH00995:48:23YTGFLT4:8:2122:28498:24891,LH00995:48:23YTGFLT4:8:2132:48804:5414,LH00995:48:23YTGFLT4:8:2189:39419:14158,LH00995:48:23YTGFLT4:8:2330:28644:21276,LH00995:48:23YTGFLT4:8:2339:9171:21486,LH00995:48:23YTGFLT4:8:2431:19979:7249
ARHGEF35 ARHGEF35 -/- -/- chr7:144188356 chr7:144188377 CDS CDS duplication/ITD 4 65 0 291 346 medium out-of-frame . RhoGEF_5/35_N-terminal_disordered_region(1%)|RhoGEF_5/35_N-terminal_disordered_region(99%) . . ENSG00000213214.5 ENSG00000213214.5 ENST00000378115.3 ENST00000378115.3 upstream downstream duplicates(139),low_entropy(2) CGGGCCTGCGCTGGGGACGGCTCTGGGGACTGCGGCCGGCGCCGGGACCTGGAGGGGACGCTGGGGCCGAAGCAGCATGTGACACCGACCAG___GATTCAGCCCTGATGGAGGCTGAGGAGGCCCAGCgTGGAG|GCTGAGGAGGCCCAGCgTGGAGCCTCTCCTCCCATCTCTGCCATAGAGGAATTCAGCATTATCCCTGAGGCTCCCATGAGGAGCAGCCAGGTCTCTGCCTTGGGGCTTGAAGCTCAAGAAGATG MEAEEAQrG|g* LH00995:48:23YTGFLT4:2:1301:18296:16217,LH00995:48:23YTGFLT4:2:1301:18296:16217,LH00995:48:23YTGFLT4:3:1261:11015:28408,LH00995:48:23YTGFLT4:3:1261:11015:28408,LH00995:48:23YTGFLT4:5:2257:17520:4699,LH00995:48:23YTGFLT4:5:2257:17520:4699,LH00995:48:23YTGFLT4:7:1335:35043:23364,LH00995:48:23YTGFLT4:7:1335:35043:23364,LH00995:48:23YTGFLT4:1:1142:41790:17058,LH00995:48:23YTGFLT4:1:1142:41790:17058,LH00995:48:23YTGFLT4:1:1194:7731:17871,LH00995:48:23YTGFLT4:1:1274:32446:19734,LH00995:48:23YTGFLT4:1:1274:32446:19734,LH00995:48:23YTGFLT4:1:1274:32462:19734,LH00995:48:23YTGFLT4:1:1274:32462:19734,LH00995:48:23YTGFLT4:1:1375:47202:25984,LH00995:48:23YTGFLT4:1:1463:45430:12350,LH00995:48:23YTGFLT4:1:1463:45430:12350,LH00995:48:23YTGFLT4:1:1497:25464:21038,LH00995:48:23YTGFLT4:1:1497:25464:21038,LH00995:48:23YTGFLT4:1:2111:4155:9463,LH00995:48:23YTGFLT4:1:2111:4155:9463,LH00995:48:23YTGFLT4:1:2134:51587:1939,LH00995:48:23YTGFLT4:1:2134:51587:1939,LH00995:48:23YTGFLT4:1:2437:51935:15124,LH00995:48:23YTGFLT4:1:2437:51935:15124,LH00995:48:23YTGFLT4:2:1142:51320:2289,LH00995:48:23YTGFLT4:2:1142:51320:2289,LH00995:48:23YTGFLT4:2:1143:35803:29165,LH00995:48:23YTGFLT4:2:1143:35803:29165,LH00995:48:23YTGFLT4:2:1195:45576:3943,LH00995:48:23YTGFLT4:2:1225:52194:16890,LH00995:48:23YTGFLT4:2:1225:52194:16890,LH00995:48:23YTGFLT4:2:1251:35698:1350,LH00995:48:23YTGFLT4:2:1251:35698:1350,LH00995:48:23YTGFLT4:2:1471:36475:8917,LH00995:48:23YTGFLT4:2:1471:36475:8917,LH00995:48:23YTGFLT4:2:1479:20699:17661,LH00995:48:23YTGFLT4:2:1479:20699:17661,LH00995:48:23YTGFLT4:2:2144:37073:20351,LH00995:48:23YTGFLT4:2:2144:37073:20351,LH00995:48:23YTGFLT4:2:2209:51773:6185,LH00995:48:23YTGFLT4:2:2209:51773:6185,LH00995:48:23YTGFLT4:2:2253:7642:28674,LH00995:48:23YTGFLT4:2:2356:46280:5470,LH00995:48:23YTGFLT4:2:2356:46280:5470,LH00995:48:23YTGFLT4:2:2356:46288:5484,LH00995:48:23YTGFLT4:2:2356:46288:5484,LH00995:48:23YTGFLT4:2:2393:19575:23420,LH00995:48:23YTGFLT4:2:2393:19575:23420,LH00995:48:23YTGFLT4:2:2418:15352:20617,LH00995:48:23YTGFLT4:2:2483:34760:14662,LH00995:48:23YTGFLT4:2:2483:34760:14662,LH00995:48:23YTGFLT4:3:1135:7666:21766,LH00995:48:23YTGFLT4:3:1135:7666:21766,LH00995:48:23YTGFLT4:3:1175:22358:14928,LH00995:48:23YTGFLT4:3:1205:38068:23364,LH00995:48:23YTGFLT4:3:1205:38068:23364,LH00995:48:23YTGFLT4:3:1215:45325:12196,LH00995:48:23YTGFLT4:3:1215:45325:12196,LH00995:48:23YTGFLT4:3:1215:45333:12182,LH00995:48:23YTGFLT4:3:1215:45333:12182,LH00995:48:23YTGFLT4:3:1222:10765:18894,LH00995:48:23YTGFLT4:3:1222:10773:18880,LH00995:48:23YTGFLT4:3:1224:3192:20883,LH00995:48:23YTGFLT4:3:1224:3192:20883,LH00995:48:23YTGFLT4:3:1243:45568:23350,LH00995:48:23YTGFLT4:3:1243:45568:23350,LH00995:48:23YTGFLT4:3:1264:16225:17030,LH00995:48:23YTGFLT4:3:1323:21201:10935,LH00995:48:23YTGFLT4:3:1323:21201:10935,LH00995:48:23YTGFLT4:3:1356:33214:8679,LH00995:48:23YTGFLT4:3:1356:33214:8679,LH00995:48:23YTGFLT4:3:2232:14777:8917,LH00995:48:23YTGFLT4:3:2232:14777:8917,LH00995:48:23YTGFLT4:3:2232:14785:8903,LH00995:48:23YTGFLT4:3:2232:14785:8903,LH00995:48:23YTGFLT4:3:2267:41960:27581,LH00995:48:23YTGFLT4:3:2267:41960:27581,LH00995:48:23YTGFLT4:3:2401:9939:21052,LH00995:48:23YTGFLT4:3:2401:9939:21052,LH00995:48:23YTGFLT4:3:2425:2011:28562,LH00995:48:23YTGFLT4:3:2425:2011:28562,LH00995:48:23YTGFLT4:4:1111:7148:6605,LH00995:48:23YTGFLT4:4:1111:7148:6605,LH00995:48:23YTGFLT4:4:1147:33109:21752,LH00995:48:23YTGFLT4:4:1147:33109:21752,LH00995:48:23YTGFLT4:4:1261:5935:14059,LH00995:48:23YTGFLT4:4:1261:5935:14059,LH00995:48:23YTGFLT4:4:1271:50673:26306,LH00995:48:23YTGFLT4:4:1271:50673:26306,LH00995:48:23YTGFLT4:4:1353:15449:13863,LH00995:48:23YTGFLT4:4:1353:15449:13863,LH00995:48:23YTGFLT4:4:1361:49184:20365,LH00995:48:23YTGFLT4:4:1361:49184:20365,LH00995:48:23YTGFLT4:4:1365:1558:11775,LH00995:48:23YTGFLT4:4:1365:1558:11775,LH00995:48:23YTGFLT4:4:1466:6040:10654,LH00995:48:23YTGFLT4:4:1466:6040:10654,LH00995:48:23YTGFLT4:4:2118:2634:27007,LH00995:48:23YTGFLT4:4:2229:18701:16217,LH00995:48:23YTGFLT4:4:2229:18701:16217,LH00995:48:23YTGFLT4:4:2324:18960:27707,LH00995:48:23YTGFLT4:4:2324:18960:27707,LH00995:48:23YTGFLT4:4:2366:26265:16428,LH00995:48:23YTGFLT4:4:2366:26265:16428,LH00995:48:23YTGFLT4:4:2367:42121:2976,LH00995:48:23YTGFLT4:4:2430:7221:3648,LH00995:48:23YTGFLT4:4:2430:7221:3648,LH00995:48:23YTGFLT4:4:2430:7237:3704,LH00995:48:23YTGFLT4:4:2430:7237:3704,LH00995:48:23YTGFLT4:5:1197:33821:16680,LH00995:48:23YTGFLT4:5:1355:8063:4013,LH00995:48:23YTGFLT4:5:1355:8063:4013,LH00995:48:23YTGFLT4:5:1356:27592:8469,LH00995:48:23YTGFLT4:5:1356:27592:8469,LH00995:48:23YTGFLT4:5:1378:8491:12574,LH00995:48:23YTGFLT4:5:1378:8491:12574,LH00995:48:23YTGFLT4:5:1419:42202:1490,LH00995:48:23YTGFLT4:5:1419:42202:1490,LH00995:48:23YTGFLT4:5:1419:42210:1504,LH00995:48:23YTGFLT4:5:1419:42210:1504,LH00995:48:23YTGFLT4:5:1424:27381:13121,LH00995:48:23YTGFLT4:5:1424:27381:13121,LH00995:48:23YTGFLT4:5:1439:12828:28268,LH00995:48:23YTGFLT4:5:1439:12828:28268,LH00995:48:23YTGFLT4:5:2103:12205:21164,LH00995:48:23YTGFLT4:5:2213:26961:10879,LH00995:48:23YTGFLT4:5:2213:26961:10879,LH00995:48:23YTGFLT4:5:2253:31232:20351,LH00995:48:23YTGFLT4:5:2253:31232:20351,LH00995:48:23YTGFLT4:5:2262:20125:2373,LH00995:48:23YTGFLT4:5:2262:20125:2373,LH00995:48:23YTGFLT4:5:2301:33142:17128,LH00995:48:23YTGFLT4:5:2301:33142:17128,LH00995:48:23YTGFLT4:5:2378:35471:10458,LH00995:48:23YTGFLT4:5:2480:44362:23139,LH00995:48:23YTGFLT4:5:2480:44362:23139,LH00995:48:23YTGFLT4:5:2486:3508:28128,LH00995:48:23YTGFLT4:5:2486:3508:28128,LH00995:48:23YTGFLT4:6:1112:5822:4139,LH00995:48:23YTGFLT4:6:1112:5822:4139,LH00995:48:23YTGFLT4:6:1128:43553:11173,LH00995:48:23YTGFLT4:6:1128:43553:11173,LH00995:48:23YTGFLT4:6:1147:38610:2948,LH00995:48:23YTGFLT4:6:1147:38610:2948,LH00995:48:23YTGFLT4:6:1187:10975:11103,LH00995:48:23YTGFLT4:6:1214:11420:22411,LH00995:48:23YTGFLT4:6:1214:11420:22411,LH00995:48:23YTGFLT4:6:1215:26621:12112,LH00995:48:23YTGFLT4:6:1328:16719:26040,LH00995:48:23YTGFLT4:6:1328:16719:26040,LH00995:48:23YTGFLT4:6:1338:5102:11159,LH00995:48:23YTGFLT4:6:1338:5102:11159,LH00995:48:23YTGFLT4:6:1409:44977:21430,LH00995:48:23YTGFLT4:6:1409:44977:21430,LH00995:48:23YTGFLT4:6:1467:33320:21612,LH00995:48:23YTGFLT4:6:1467:33320:21612,LH00995:48:23YTGFLT4:6:1479:3168:2373,LH00995:48:23YTGFLT4:6:1479:3176:2387,LH00995:48:23YTGFLT4:6:2147:36418:1645,LH00995:48:23YTGFLT4:6:2147:36418:1645,LH00995:48:23YTGFLT4:6:2243:41612:5092,LH00995:48:23YTGFLT4:6:2243:41612:5092,LH00995:48:23YTGFLT4:6:2259:40180:5526,LH00995:48:23YTGFLT4:6:2310:36968:19356,LH00995:48:23YTGFLT4:6:2310:36968:19356,LH00995:48:23YTGFLT4:6:2312:32608:29403,LH00995:48:23YTGFLT4:6:2312:32608:29403,LH00995:48:23YTGFLT4:6:2322:6331:14101,LH00995:48:23YTGFLT4:6:2322:6331:14101,LH00995:48:23YTGFLT4:6:2442:33578:19342,LH00995:48:23YTGFLT4:7:1107:45074:14087,LH00995:48:23YTGFLT4:7:1107:45074:14087,LH00995:48:23YTGFLT4:7:1168:51231:12420,LH00995:48:23YTGFLT4:7:1168:51231:12420,LH00995:48:23YTGFLT4:7:1172:46919:8118,LH00995:48:23YTGFLT4:7:1172:46919:8118,LH00995:48:23YTGFLT4:7:1223:4746:28730,LH00995:48:23YTGFLT4:7:1224:7553:2822,LH00995:48:23YTGFLT4:7:1236:3896:21962,LH00995:48:23YTGFLT4:7:1271:7464:26741,LH00995:48:23YTGFLT4:7:1271:7480:26741,LH00995:48:23YTGFLT4:7:1392:25165:19482,LH00995:48:23YTGFLT4:7:1392:25165:19482,LH00995:48:23YTGFLT4:7:1470:20173:5932,LH00995:48:23YTGFLT4:7:1470:20173:5932,LH00995:48:23YTGFLT4:7:1486:35892:28786,LH00995:48:23YTGFLT4:7:1486:35892:28786,LH00995:48:23YTGFLT4:7:2125:32939:2794,LH00995:48:23YTGFLT4:7:2125:32939:2794,LH00995:48:23YTGFLT4:7:2272:28061:17661,LH00995:48:23YTGFLT4:7:2272:28061:17661,LH00995:48:23YTGFLT4:8:1111:30553:20015,LH00995:48:23YTGFLT4:8:1111:30553:20015,LH00995:48:23YTGFLT4:8:1156:3767:16161,LH00995:48:23YTGFLT4:8:1251:19688:22747,LH00995:48:23YTGFLT4:8:1278:7448:26600,LH00995:48:23YTGFLT4:8:1278:7448:26600,LH00995:48:23YTGFLT4:8:1294:35107:9043,LH00995:48:23YTGFLT4:8:1294:35107:9043,LH00995:48:23YTGFLT4:8:1324:38182:21346,LH00995:48:23YTGFLT4:8:1419:33845:27427,LH00995:48:23YTGFLT4:8:1419:33845:27427,LH00995:48:23YTGFLT4:8:1442:38352:13065,LH00995:48:23YTGFLT4:8:1457:15044:8062,LH00995:48:23YTGFLT4:8:1457:15044:8062,LH00995:48:23YTGFLT4:8:1489:5247:28422,LH00995:48:23YTGFLT4:8:2482:21233:12000,LH00995:48:23YTGFLT4:8:1278:7448:26600
PCDHGA6 PCDHGA8 +/+ +/+ chr5:141376507 chr5:141494807 CDS CDS/splice-site deletion/read-through 30 21 0 395 18228 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(142),low_entropy(1),mismappers(1) CACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW LH00995:48:23YTGFLT4:1:1119:13887:22032,LH00995:48:23YTGFLT4:1:1119:13895:22018,LH00995:48:23YTGFLT4:1:1119:13904:22032,LH00995:48:23YTGFLT4:1:1128:39428:3326,LH00995:48:23YTGFLT4:1:1173:50762:7656,LH00995:48:23YTGFLT4:1:1222:22649:7081,LH00995:48:23YTGFLT4:1:1222:22665:7081,LH00995:48:23YTGFLT4:1:1224:33740:21892,LH00995:48:23YTGFLT4:1:1224:33756:21892,LH00995:48:23YTGFLT4:1:1247:17940:16862,LH00995:48:23YTGFLT4:1:1247:17949:16848,LH00995:48:23YTGFLT4:1:1343:13507:27988,LH00995:48:23YTGFLT4:1:1423:46013:10444,LH00995:48:23YTGFLT4:1:1476:32252:4937,LH00995:48:23YTGFLT4:1:2116:49047:22004,LH00995:48:23YTGFLT4:1:2155:29663:17577,LH00995:48:23YTGFLT4:1:2198:30529:24176,LH00995:48:23YTGFLT4:1:2237:45349:21710,LH00995:48:23YTGFLT4:1:2252:15562:21402,LH00995:48:23YTGFLT4:1:2263:14340:19342,LH00995:48:23YTGFLT4:1:2343:13936:5778,LH00995:48:23YTGFLT4:1:2482:38165:14928,LH00995:48:23YTGFLT4:2:1180:28805:29039,LH00995:48:23YTGFLT4:2:1180:28813:29025,LH00995:48:23YTGFLT4:2:1278:46061:7586,LH00995:48:23YTGFLT4:2:1359:34064:4881,LH00995:48:23YTGFLT4:2:1387:29501:8749,LH00995:48:23YTGFLT4:2:2136:15263:26124,LH00995:48:23YTGFLT4:2:2255:34873:3929,LH00995:48:23YTGFLT4:2:2264:52105:2359,LH00995:48:23YTGFLT4:2:2402:4665:13177,LH00995:48:23YTGFLT4:2:2402:4673:13163,LH00995:48:23YTGFLT4:2:2402:4681:13177,LH00995:48:23YTGFLT4:2:2442:47760:18655,LH00995:48:23YTGFLT4:2:2448:35261:21164,LH00995:48:23YTGFLT4:3:1120:4552:29263,LH00995:48:23YTGFLT4:3:1144:22981:14718,LH00995:48:23YTGFLT4:3:1152:21371:6241,LH00995:48:23YTGFLT4:3:1255:10805:28156,LH00995:48:23YTGFLT4:3:1314:30917:27707,LH00995:48:23YTGFLT4:3:1314:30925:27693,LH00995:48:23YTGFLT4:3:1345:16808:15068,LH00995:48:23YTGFLT4:3:1352:26775:2401,LH00995:48:23YTGFLT4:3:1352:26783:2387,LH00995:48:23YTGFLT4:3:1412:42542:25536,LH00995:48:23YTGFLT4:3:1491:33360:11257,LH00995:48:23YTGFLT4:3:2203:32591:24302,LH00995:48:23YTGFLT4:3:2210:4293:12560,LH00995:48:23YTGFLT4:3:2241:8321:14578,LH00995:48:23YTGFLT4:3:2414:40957:7600,LH00995:48:23YTGFLT4:4:1265:10271:25970,LH00995:48:23YTGFLT4:4:2170:5417:3130,LH00995:48:23YTGFLT4:4:2237:4794:28842,LH00995:48:23YTGFLT4:4:2277:47655:13233,LH00995:48:23YTGFLT4:4:2314:28805:26853,LH00995:48:23YTGFLT4:4:2383:23628:26769,LH00995:48:23YTGFLT4:4:2421:44848:5232,LH00995:48:23YTGFLT4:4:2493:49904:11383,LH00995:48:23YTGFLT4:5:1107:1566:9604,LH00995:48:23YTGFLT4:5:1118:41782:8777,LH00995:48:23YTGFLT4:5:1125:10926:17352,LH00995:48:23YTGFLT4:5:1271:40067:2555,LH00995:48:23YTGFLT4:5:1326:51506:7067,LH00995:48:23YTGFLT4:5:1345:44848:27231,LH00995:48:23YTGFLT4:5:1373:19647:2107,LH00995:48:23YTGFLT4:5:1383:44233:23027,LH00995:48:23YTGFLT4:5:1389:31249:22257,LH00995:48:23YTGFLT4:5:1412:35957:14578,LH00995:48:23YTGFLT4:5:1442:21921:21878,LH00995:48:23YTGFLT4:5:2189:13669:12686,LH00995:48:23YTGFLT4:5:2226:20481:10865,LH00995:48:23YTGFLT4:5:2289:39589:19833,LH00995:48:23YTGFLT4:5:2324:25893:14886,LH00995:48:23YTGFLT4:5:2324:25893:14914,LH00995:48:23YTGFLT4:5:2324:25901:14900,LH00995:48:23YTGFLT4:5:2324:25901:14928,LH00995:48:23YTGFLT4:5:2324:25909:14886,LH00995:48:23YTGFLT4:5:2378:10781:7432,LH00995:48:23YTGFLT4:5:2403:13556:19917,LH00995:48:23YTGFLT4:5:2432:13798:7193,LH00995:48:23YTGFLT4:6:1398:5830:28926,LH00995:48:23YTGFLT4:6:2153:39201:25998,LH00995:48:23YTGFLT4:6:2218:22568:26362,LH00995:48:23YTGFLT4:6:2238:4786:15040,LH00995:48:23YTGFLT4:6:2383:32430:28226,LH00995:48:23YTGFLT4:6:2443:50665:2051,LH00995:48:23YTGFLT4:6:2463:17884:10795,LH00995:48:23YTGFLT4:6:2483:45042:2766,LH00995:48:23YTGFLT4:7:1166:39039:6128,LH00995:48:23YTGFLT4:7:1322:35269:25522,LH00995:48:23YTGFLT4:7:1441:46401:26110,LH00995:48:23YTGFLT4:7:2208:16962:10514,LH00995:48:23YTGFLT4:7:2219:43141:4069,LH00995:48:23YTGFLT4:7:2219:43157:4069,LH00995:48:23YTGFLT4:7:2223:48982:26460,LH00995:48:23YTGFLT4:7:2288:40851:3270,LH00995:48:23YTGFLT4:7:2356:30844:12504,LH00995:48:23YTGFLT4:8:1107:12455:21542,LH00995:48:23YTGFLT4:8:1140:41701:4097,LH00995:48:23YTGFLT4:8:1140:41717:4097,LH00995:48:23YTGFLT4:8:1145:11857:24120,LH00995:48:23YTGFLT4:8:1145:11865:24106,LH00995:48:23YTGFLT4:8:1230:10668:23013,LH00995:48:23YTGFLT4:8:1289:3006:8202,LH00995:48:23YTGFLT4:8:1388:23676:27357,LH00995:48:23YTGFLT4:8:2139:24979:25241,LH00995:48:23YTGFLT4:8:2436:22091:18165,LH00995:48:23YTGFLT4:8:2466:18175:28226,LH00995:48:23YTGFLT4:1:1127:15934:20813,LH00995:48:23YTGFLT4:1:1278:8410:20393,LH00995:48:23YTGFLT4:1:1306:7788:13149,LH00995:48:23YTGFLT4:1:1325:9017:1154,LH00995:48:23YTGFLT4:1:1365:18798:21626,LH00995:48:23YTGFLT4:1:2202:35423:9449,LH00995:48:23YTGFLT4:1:2267:20303:1925,LH00995:48:23YTGFLT4:1:2334:24065:20603,LH00995:48:23YTGFLT4:1:2495:30577:12266,LH00995:48:23YTGFLT4:1:2495:31046:9295,LH00995:48:23YTGFLT4:2:1214:51918:8398,LH00995:48:23YTGFLT4:2:1258:28644:21444,LH00995:48:23YTGFLT4:2:1267:26556:4153,LH00995:48:23YTGFLT4:2:1276:11250:25592,LH00995:48:23YTGFLT4:2:1348:30747:29431,LH00995:48:23YTGFLT4:2:1422:16428:1631,LH00995:48:23YTGFLT4:2:2405:19041:26586,LH00995:48:23YTGFLT4:3:1209:30334:16385,LH00995:48:23YTGFLT4:3:1294:48326:3578,LH00995:48:23YTGFLT4:3:1335:33069:5372,LH00995:48:23YTGFLT4:3:1369:20367:26839,LH00995:48:23YTGFLT4:3:1369:20376:26825,LH00995:48:23YTGFLT4:3:2130:5506:5190,LH00995:48:23YTGFLT4:3:2154:6760:18011,LH00995:48:23YTGFLT4:3:2170:6598:21570,LH00995:48:23YTGFLT4:3:2314:48060:16175,LH00995:48:23YTGFLT4:3:2354:9041:17114,LH00995:48:23YTGFLT4:3:2433:32268:1827,LH00995:48:23YTGFLT4:3:2470:3678:10430,LH00995:48:23YTGFLT4:3:2481:28328:5428,LH00995:48:23YTGFLT4:3:2487:10797:15251,LH00995:48:23YTGFLT4:4:1107:32567:19216,LH00995:48:23YTGFLT4:4:1157:33222:2724,LH00995:48:23YTGFLT4:4:1232:10829:6759,LH00995:48:23YTGFLT4:4:1260:2909:20673,LH00995:48:23YTGFLT4:4:1281:6582:23560,LH00995:48:23YTGFLT4:4:1293:16889:3074,LH00995:48:23YTGFLT4:4:2141:19979:21290,LH00995:48:23YTGFLT4:4:2177:25642:27848,LH00995:48:23YTGFLT4:4:2191:21354:10388,LH00995:48:23YTGFLT4:4:2271:17576:26572,LH00995:48:23YTGFLT4:4:2326:49767:27455,LH00995:48:23YTGFLT4:4:2415:51927:7207,LH00995:48:23YTGFLT4:4:2420:43683:11509,LH00995:48:23YTGFLT4:4:2467:29857:11972,LH00995:48:23YTGFLT4:5:1101:44945:1448,LH00995:48:23YTGFLT4:5:1127:42939:11229,LH00995:48:23YTGFLT4:5:1212:3743:6114,LH00995:48:23YTGFLT4:5:1302:12795:20393,LH00995:48:23YTGFLT4:5:1319:51376:26488,LH00995:48:23YTGFLT4:5:1351:15238:28856,LH00995:48:23YTGFLT4:5:2121:31103:27609,LH00995:48:23YTGFLT4:5:2127:15198:6815,LH00995:48:23YTGFLT4:5:2152:17528:9730,LH00995:48:23YTGFLT4:6:1188:12601:15853,LH00995:48:23YTGFLT4:6:1206:35277:4069,LH00995:48:23YTGFLT4:6:1207:15869:7950,LH00995:48:23YTGFLT4:6:1228:28085:1560,LH00995:48:23YTGFLT4:6:1251:38991:3354,LH00995:48:23YTGFLT4:6:1388:49702:18964,LH00995:48:23YTGFLT4:6:1495:21201:25395,LH00995:48:23YTGFLT4:6:2134:4115:24162,LH00995:48:23YTGFLT4:6:2157:24396:7418,LH00995:48:23YTGFLT4:6:2162:44128:19706,LH00995:48:23YTGFLT4:6:2349:21686:6311,LH00995:48:23YTGFLT4:6:2421:38335:10262,LH00995:48:23YTGFLT4:7:1105:14753:18067,LH00995:48:23YTGFLT4:7:1190:4034:25872,LH00995:48:23YTGFLT4:7:1196:32001:23083,LH00995:48:23YTGFLT4:7:1336:37203:11523,LH00995:48:23YTGFLT4:7:1442:30213:15391,LH00995:48:23YTGFLT4:7:1484:27430:1098,LH00995:48:23YTGFLT4:7:1484:27438:1112,LH00995:48:23YTGFLT4:7:2195:46061:24008,LH00995:48:23YTGFLT4:7:2285:46175:21766,LH00995:48:23YTGFLT4:7:2294:15570:9393,LH00995:48:23YTGFLT4:7:2332:18693:17549,LH00995:48:23YTGFLT4:7:2442:34962:5652,LH00995:48:23YTGFLT4:7:2492:4552:14886,LH00995:48:23YTGFLT4:8:1194:2569:17086,LH00995:48:23YTGFLT4:8:1397:40916:6437,LH00995:48:23YTGFLT4:8:1416:36661:23167,LH00995:48:23YTGFLT4:8:1422:23676:26236,LH00995:48:23YTGFLT4:8:2338:40123:13191,LH00995:48:23YTGFLT4:8:2353:27794:18403,LH00995:48:23YTGFLT4:8:2378:2537:14956,LH00995:48:23YTGFLT4:8:2393:48076:15699
PCDHGA6 PCDHGB6 +/+ +/+ chr5:141376507 chr5:141494807 CDS CDS/splice-site deletion/read-through 30 21 0 395 18228 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(142),low_entropy(1),mismappers(1) CACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW LH00995:48:23YTGFLT4:1:1119:13887:22032,LH00995:48:23YTGFLT4:1:1119:13895:22018,LH00995:48:23YTGFLT4:1:1119:13904:22032,LH00995:48:23YTGFLT4:1:1128:39428:3326,LH00995:48:23YTGFLT4:1:1173:50762:7656,LH00995:48:23YTGFLT4:1:1222:22649:7081,LH00995:48:23YTGFLT4:1:1222:22665:7081,LH00995:48:23YTGFLT4:1:1224:33740:21892,LH00995:48:23YTGFLT4:1:1224:33756:21892,LH00995:48:23YTGFLT4:1:1247:17940:16862,LH00995:48:23YTGFLT4:1:1247:17949:16848,LH00995:48:23YTGFLT4:1:1343:13507:27988,LH00995:48:23YTGFLT4:1:1423:46013:10444,LH00995:48:23YTGFLT4:1:1476:32252:4937,LH00995:48:23YTGFLT4:1:2116:49047:22004,LH00995:48:23YTGFLT4:1:2155:29663:17577,LH00995:48:23YTGFLT4:1:2198:30529:24176,LH00995:48:23YTGFLT4:1:2237:45349:21710,LH00995:48:23YTGFLT4:1:2252:15562:21402,LH00995:48:23YTGFLT4:1:2263:14340:19342,LH00995:48:23YTGFLT4:1:2343:13936:5778,LH00995:48:23YTGFLT4:1:2482:38165:14928,LH00995:48:23YTGFLT4:2:1180:28805:29039,LH00995:48:23YTGFLT4:2:1180:28813:29025,LH00995:48:23YTGFLT4:2:1278:46061:7586,LH00995:48:23YTGFLT4:2:1359:34064:4881,LH00995:48:23YTGFLT4:2:1387:29501:8749,LH00995:48:23YTGFLT4:2:2136:15263:26124,LH00995:48:23YTGFLT4:2:2255:34873:3929,LH00995:48:23YTGFLT4:2:2264:52105:2359,LH00995:48:23YTGFLT4:2:2402:4665:13177,LH00995:48:23YTGFLT4:2:2402:4673:13163,LH00995:48:23YTGFLT4:2:2402:4681:13177,LH00995:48:23YTGFLT4:2:2442:47760:18655,LH00995:48:23YTGFLT4:2:2448:35261:21164,LH00995:48:23YTGFLT4:3:1120:4552:29263,LH00995:48:23YTGFLT4:3:1144:22981:14718,LH00995:48:23YTGFLT4:3:1152:21371:6241,LH00995:48:23YTGFLT4:3:1255:10805:28156,LH00995:48:23YTGFLT4:3:1314:30917:27707,LH00995:48:23YTGFLT4:3:1314:30925:27693,LH00995:48:23YTGFLT4:3:1345:16808:15068,LH00995:48:23YTGFLT4:3:1352:26775:2401,LH00995:48:23YTGFLT4:3:1352:26783:2387,LH00995:48:23YTGFLT4:3:1412:42542:25536,LH00995:48:23YTGFLT4:3:1491:33360:11257,LH00995:48:23YTGFLT4:3:2203:32591:24302,LH00995:48:23YTGFLT4:3:2210:4293:12560,LH00995:48:23YTGFLT4:3:2241:8321:14578,LH00995:48:23YTGFLT4:3:2414:40957:7600,LH00995:48:23YTGFLT4:4:1265:10271:25970,LH00995:48:23YTGFLT4:4:2170:5417:3130,LH00995:48:23YTGFLT4:4:2237:4794:28842,LH00995:48:23YTGFLT4:4:2277:47655:13233,LH00995:48:23YTGFLT4:4:2314:28805:26853,LH00995:48:23YTGFLT4:4:2383:23628:26769,LH00995:48:23YTGFLT4:4:2421:44848:5232,LH00995:48:23YTGFLT4:4:2493:49904:11383,LH00995:48:23YTGFLT4:5:1107:1566:9604,LH00995:48:23YTGFLT4:5:1118:41782:8777,LH00995:48:23YTGFLT4:5:1125:10926:17352,LH00995:48:23YTGFLT4:5:1271:40067:2555,LH00995:48:23YTGFLT4:5:1326:51506:7067,LH00995:48:23YTGFLT4:5:1345:44848:27231,LH00995:48:23YTGFLT4:5:1373:19647:2107,LH00995:48:23YTGFLT4:5:1383:44233:23027,LH00995:48:23YTGFLT4:5:1389:31249:22257,LH00995:48:23YTGFLT4:5:1412:35957:14578,LH00995:48:23YTGFLT4:5:1442:21921:21878,LH00995:48:23YTGFLT4:5:2189:13669:12686,LH00995:48:23YTGFLT4:5:2226:20481:10865,LH00995:48:23YTGFLT4:5:2289:39589:19833,LH00995:48:23YTGFLT4:5:2324:25893:14886,LH00995:48:23YTGFLT4:5:2324:25893:14914,LH00995:48:23YTGFLT4:5:2324:25901:14900,LH00995:48:23YTGFLT4:5:2324:25901:14928,LH00995:48:23YTGFLT4:5:2324:25909:14886,LH00995:48:23YTGFLT4:5:2378:10781:7432,LH00995:48:23YTGFLT4:5:2403:13556:19917,LH00995:48:23YTGFLT4:5:2432:13798:7193,LH00995:48:23YTGFLT4:6:1398:5830:28926,LH00995:48:23YTGFLT4:6:2153:39201:25998,LH00995:48:23YTGFLT4:6:2218:22568:26362,LH00995:48:23YTGFLT4:6:2238:4786:15040,LH00995:48:23YTGFLT4:6:2383:32430:28226,LH00995:48:23YTGFLT4:6:2443:50665:2051,LH00995:48:23YTGFLT4:6:2463:17884:10795,LH00995:48:23YTGFLT4:6:2483:45042:2766,LH00995:48:23YTGFLT4:7:1166:39039:6128,LH00995:48:23YTGFLT4:7:1322:35269:25522,LH00995:48:23YTGFLT4:7:1441:46401:26110,LH00995:48:23YTGFLT4:7:2208:16962:10514,LH00995:48:23YTGFLT4:7:2219:43141:4069,LH00995:48:23YTGFLT4:7:2219:43157:4069,LH00995:48:23YTGFLT4:7:2223:48982:26460,LH00995:48:23YTGFLT4:7:2288:40851:3270,LH00995:48:23YTGFLT4:7:2356:30844:12504,LH00995:48:23YTGFLT4:8:1107:12455:21542,LH00995:48:23YTGFLT4:8:1140:41701:4097,LH00995:48:23YTGFLT4:8:1140:41717:4097,LH00995:48:23YTGFLT4:8:1145:11857:24120,LH00995:48:23YTGFLT4:8:1145:11865:24106,LH00995:48:23YTGFLT4:8:1230:10668:23013,LH00995:48:23YTGFLT4:8:1289:3006:8202,LH00995:48:23YTGFLT4:8:1388:23676:27357,LH00995:48:23YTGFLT4:8:2139:24979:25241,LH00995:48:23YTGFLT4:8:2436:22091:18165,LH00995:48:23YTGFLT4:8:2466:18175:28226,LH00995:48:23YTGFLT4:1:1127:15934:20813,LH00995:48:23YTGFLT4:1:1278:8410:20393,LH00995:48:23YTGFLT4:1:1306:7788:13149,LH00995:48:23YTGFLT4:1:1325:9017:1154,LH00995:48:23YTGFLT4:1:1365:18798:21626,LH00995:48:23YTGFLT4:1:2202:35423:9449,LH00995:48:23YTGFLT4:1:2267:20303:1925,LH00995:48:23YTGFLT4:1:2334:24065:20603,LH00995:48:23YTGFLT4:1:2495:30577:12266,LH00995:48:23YTGFLT4:1:2495:31046:9295,LH00995:48:23YTGFLT4:2:1214:51918:8398,LH00995:48:23YTGFLT4:2:1258:28644:21444,LH00995:48:23YTGFLT4:2:1267:26556:4153,LH00995:48:23YTGFLT4:2:1276:11250:25592,LH00995:48:23YTGFLT4:2:1348:30747:29431,LH00995:48:23YTGFLT4:2:1422:16428:1631,LH00995:48:23YTGFLT4:2:2405:19041:26586,LH00995:48:23YTGFLT4:3:1209:30334:16385,LH00995:48:23YTGFLT4:3:1294:48326:3578,LH00995:48:23YTGFLT4:3:1335:33069:5372,LH00995:48:23YTGFLT4:3:1369:20367:26839,LH00995:48:23YTGFLT4:3:1369:20376:26825,LH00995:48:23YTGFLT4:3:2130:5506:5190,LH00995:48:23YTGFLT4:3:2154:6760:18011,LH00995:48:23YTGFLT4:3:2170:6598:21570,LH00995:48:23YTGFLT4:3:2314:48060:16175,LH00995:48:23YTGFLT4:3:2354:9041:17114,LH00995:48:23YTGFLT4:3:2433:32268:1827,LH00995:48:23YTGFLT4:3:2470:3678:10430,LH00995:48:23YTGFLT4:3:2481:28328:5428,LH00995:48:23YTGFLT4:3:2487:10797:15251,LH00995:48:23YTGFLT4:4:1107:32567:19216,LH00995:48:23YTGFLT4:4:1157:33222:2724,LH00995:48:23YTGFLT4:4:1232:10829:6759,LH00995:48:23YTGFLT4:4:1260:2909:20673,LH00995:48:23YTGFLT4:4:1281:6582:23560,LH00995:48:23YTGFLT4:4:1293:16889:3074,LH00995:48:23YTGFLT4:4:2141:19979:21290,LH00995:48:23YTGFLT4:4:2177:25642:27848,LH00995:48:23YTGFLT4:4:2191:21354:10388,LH00995:48:23YTGFLT4:4:2271:17576:26572,LH00995:48:23YTGFLT4:4:2326:49767:27455,LH00995:48:23YTGFLT4:4:2415:51927:7207,LH00995:48:23YTGFLT4:4:2420:43683:11509,LH00995:48:23YTGFLT4:4:2467:29857:11972,LH00995:48:23YTGFLT4:5:1101:44945:1448,LH00995:48:23YTGFLT4:5:1127:42939:11229,LH00995:48:23YTGFLT4:5:1212:3743:6114,LH00995:48:23YTGFLT4:5:1302:12795:20393,LH00995:48:23YTGFLT4:5:1319:51376:26488,LH00995:48:23YTGFLT4:5:1351:15238:28856,LH00995:48:23YTGFLT4:5:2121:31103:27609,LH00995:48:23YTGFLT4:5:2127:15198:6815,LH00995:48:23YTGFLT4:5:2152:17528:9730,LH00995:48:23YTGFLT4:6:1188:12601:15853,LH00995:48:23YTGFLT4:6:1206:35277:4069,LH00995:48:23YTGFLT4:6:1207:15869:7950,LH00995:48:23YTGFLT4:6:1228:28085:1560,LH00995:48:23YTGFLT4:6:1251:38991:3354,LH00995:48:23YTGFLT4:6:1388:49702:18964,LH00995:48:23YTGFLT4:6:1495:21201:25395,LH00995:48:23YTGFLT4:6:2134:4115:24162,LH00995:48:23YTGFLT4:6:2157:24396:7418,LH00995:48:23YTGFLT4:6:2162:44128:19706,LH00995:48:23YTGFLT4:6:2349:21686:6311,LH00995:48:23YTGFLT4:6:2421:38335:10262,LH00995:48:23YTGFLT4:7:1105:14753:18067,LH00995:48:23YTGFLT4:7:1190:4034:25872,LH00995:48:23YTGFLT4:7:1196:32001:23083,LH00995:48:23YTGFLT4:7:1336:37203:11523,LH00995:48:23YTGFLT4:7:1442:30213:15391,LH00995:48:23YTGFLT4:7:1484:27430:1098,LH00995:48:23YTGFLT4:7:1484:27438:1112,LH00995:48:23YTGFLT4:7:2195:46061:24008,LH00995:48:23YTGFLT4:7:2285:46175:21766,LH00995:48:23YTGFLT4:7:2294:15570:9393,LH00995:48:23YTGFLT4:7:2332:18693:17549,LH00995:48:23YTGFLT4:7:2442:34962:5652,LH00995:48:23YTGFLT4:7:2492:4552:14886,LH00995:48:23YTGFLT4:8:1194:2569:17086,LH00995:48:23YTGFLT4:8:1397:40916:6437,LH00995:48:23YTGFLT4:8:1416:36661:23167,LH00995:48:23YTGFLT4:8:1422:23676:26236,LH00995:48:23YTGFLT4:8:2338:40123:13191,LH00995:48:23YTGFLT4:8:2353:27794:18403,LH00995:48:23YTGFLT4:8:2378:2537:14956,LH00995:48:23YTGFLT4:8:2393:48076:15699
PCDHGA6 PCDHGA11 +/+ +/+ chr5:141376507 chr5:141494807 CDS CDS/splice-site deletion/read-through 30 21 0 395 18228 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(142),low_entropy(1),mismappers(1) CACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW LH00995:48:23YTGFLT4:1:1119:13887:22032,LH00995:48:23YTGFLT4:1:1119:13895:22018,LH00995:48:23YTGFLT4:1:1119:13904:22032,LH00995:48:23YTGFLT4:1:1128:39428:3326,LH00995:48:23YTGFLT4:1:1173:50762:7656,LH00995:48:23YTGFLT4:1:1222:22649:7081,LH00995:48:23YTGFLT4:1:1222:22665:7081,LH00995:48:23YTGFLT4:1:1224:33740:21892,LH00995:48:23YTGFLT4:1:1224:33756:21892,LH00995:48:23YTGFLT4:1:1247:17940:16862,LH00995:48:23YTGFLT4:1:1247:17949:16848,LH00995:48:23YTGFLT4:1:1343:13507:27988,LH00995:48:23YTGFLT4:1:1423:46013:10444,LH00995:48:23YTGFLT4:1:1476:32252:4937,LH00995:48:23YTGFLT4:1:2116:49047:22004,LH00995:48:23YTGFLT4:1:2155:29663:17577,LH00995:48:23YTGFLT4:1:2198:30529:24176,LH00995:48:23YTGFLT4:1:2237:45349:21710,LH00995:48:23YTGFLT4:1:2252:15562:21402,LH00995:48:23YTGFLT4:1:2263:14340:19342,LH00995:48:23YTGFLT4:1:2343:13936:5778,LH00995:48:23YTGFLT4:1:2482:38165:14928,LH00995:48:23YTGFLT4:2:1180:28805:29039,LH00995:48:23YTGFLT4:2:1180:28813:29025,LH00995:48:23YTGFLT4:2:1278:46061:7586,LH00995:48:23YTGFLT4:2:1359:34064:4881,LH00995:48:23YTGFLT4:2:1387:29501:8749,LH00995:48:23YTGFLT4:2:2136:15263:26124,LH00995:48:23YTGFLT4:2:2255:34873:3929,LH00995:48:23YTGFLT4:2:2264:52105:2359,LH00995:48:23YTGFLT4:2:2402:4665:13177,LH00995:48:23YTGFLT4:2:2402:4673:13163,LH00995:48:23YTGFLT4:2:2402:4681:13177,LH00995:48:23YTGFLT4:2:2442:47760:18655,LH00995:48:23YTGFLT4:2:2448:35261:21164,LH00995:48:23YTGFLT4:3:1120:4552:29263,LH00995:48:23YTGFLT4:3:1144:22981:14718,LH00995:48:23YTGFLT4:3:1152:21371:6241,LH00995:48:23YTGFLT4:3:1255:10805:28156,LH00995:48:23YTGFLT4:3:1314:30917:27707,LH00995:48:23YTGFLT4:3:1314:30925:27693,LH00995:48:23YTGFLT4:3:1345:16808:15068,LH00995:48:23YTGFLT4:3:1352:26775:2401,LH00995:48:23YTGFLT4:3:1352:26783:2387,LH00995:48:23YTGFLT4:3:1412:42542:25536,LH00995:48:23YTGFLT4:3:1491:33360:11257,LH00995:48:23YTGFLT4:3:2203:32591:24302,LH00995:48:23YTGFLT4:3:2210:4293:12560,LH00995:48:23YTGFLT4:3:2241:8321:14578,LH00995:48:23YTGFLT4:3:2414:40957:7600,LH00995:48:23YTGFLT4:4:1265:10271:25970,LH00995:48:23YTGFLT4:4:2170:5417:3130,LH00995:48:23YTGFLT4:4:2237:4794:28842,LH00995:48:23YTGFLT4:4:2277:47655:13233,LH00995:48:23YTGFLT4:4:2314:28805:26853,LH00995:48:23YTGFLT4:4:2383:23628:26769,LH00995:48:23YTGFLT4:4:2421:44848:5232,LH00995:48:23YTGFLT4:4:2493:49904:11383,LH00995:48:23YTGFLT4:5:1107:1566:9604,LH00995:48:23YTGFLT4:5:1118:41782:8777,LH00995:48:23YTGFLT4:5:1125:10926:17352,LH00995:48:23YTGFLT4:5:1271:40067:2555,LH00995:48:23YTGFLT4:5:1326:51506:7067,LH00995:48:23YTGFLT4:5:1345:44848:27231,LH00995:48:23YTGFLT4:5:1373:19647:2107,LH00995:48:23YTGFLT4:5:1383:44233:23027,LH00995:48:23YTGFLT4:5:1389:31249:22257,LH00995:48:23YTGFLT4:5:1412:35957:14578,LH00995:48:23YTGFLT4:5:1442:21921:21878,LH00995:48:23YTGFLT4:5:2189:13669:12686,LH00995:48:23YTGFLT4:5:2226:20481:10865,LH00995:48:23YTGFLT4:5:2289:39589:19833,LH00995:48:23YTGFLT4:5:2324:25893:14886,LH00995:48:23YTGFLT4:5:2324:25893:14914,LH00995:48:23YTGFLT4:5:2324:25901:14900,LH00995:48:23YTGFLT4:5:2324:25901:14928,LH00995:48:23YTGFLT4:5:2324:25909:14886,LH00995:48:23YTGFLT4:5:2378:10781:7432,LH00995:48:23YTGFLT4:5:2403:13556:19917,LH00995:48:23YTGFLT4:5:2432:13798:7193,LH00995:48:23YTGFLT4:6:1398:5830:28926,LH00995:48:23YTGFLT4:6:2153:39201:25998,LH00995:48:23YTGFLT4:6:2218:22568:26362,LH00995:48:23YTGFLT4:6:2238:4786:15040,LH00995:48:23YTGFLT4:6:2383:32430:28226,LH00995:48:23YTGFLT4:6:2443:50665:2051,LH00995:48:23YTGFLT4:6:2463:17884:10795,LH00995:48:23YTGFLT4:6:2483:45042:2766,LH00995:48:23YTGFLT4:7:1166:39039:6128,LH00995:48:23YTGFLT4:7:1322:35269:25522,LH00995:48:23YTGFLT4:7:1441:46401:26110,LH00995:48:23YTGFLT4:7:2208:16962:10514,LH00995:48:23YTGFLT4:7:2219:43141:4069,LH00995:48:23YTGFLT4:7:2219:43157:4069,LH00995:48:23YTGFLT4:7:2223:48982:26460,LH00995:48:23YTGFLT4:7:2288:40851:3270,LH00995:48:23YTGFLT4:7:2356:30844:12504,LH00995:48:23YTGFLT4:8:1107:12455:21542,LH00995:48:23YTGFLT4:8:1140:41701:4097,LH00995:48:23YTGFLT4:8:1140:41717:4097,LH00995:48:23YTGFLT4:8:1145:11857:24120,LH00995:48:23YTGFLT4:8:1145:11865:24106,LH00995:48:23YTGFLT4:8:1230:10668:23013,LH00995:48:23YTGFLT4:8:1289:3006:8202,LH00995:48:23YTGFLT4:8:1388:23676:27357,LH00995:48:23YTGFLT4:8:2139:24979:25241,LH00995:48:23YTGFLT4:8:2436:22091:18165,LH00995:48:23YTGFLT4:8:2466:18175:28226,LH00995:48:23YTGFLT4:1:1127:15934:20813,LH00995:48:23YTGFLT4:1:1278:8410:20393,LH00995:48:23YTGFLT4:1:1306:7788:13149,LH00995:48:23YTGFLT4:1:1325:9017:1154,LH00995:48:23YTGFLT4:1:1365:18798:21626,LH00995:48:23YTGFLT4:1:2202:35423:9449,LH00995:48:23YTGFLT4:1:2267:20303:1925,LH00995:48:23YTGFLT4:1:2334:24065:20603,LH00995:48:23YTGFLT4:1:2495:30577:12266,LH00995:48:23YTGFLT4:1:2495:31046:9295,LH00995:48:23YTGFLT4:2:1214:51918:8398,LH00995:48:23YTGFLT4:2:1258:28644:21444,LH00995:48:23YTGFLT4:2:1267:26556:4153,LH00995:48:23YTGFLT4:2:1276:11250:25592,LH00995:48:23YTGFLT4:2:1348:30747:29431,LH00995:48:23YTGFLT4:2:1422:16428:1631,LH00995:48:23YTGFLT4:2:2405:19041:26586,LH00995:48:23YTGFLT4:3:1209:30334:16385,LH00995:48:23YTGFLT4:3:1294:48326:3578,LH00995:48:23YTGFLT4:3:1335:33069:5372,LH00995:48:23YTGFLT4:3:1369:20367:26839,LH00995:48:23YTGFLT4:3:1369:20376:26825,LH00995:48:23YTGFLT4:3:2130:5506:5190,LH00995:48:23YTGFLT4:3:2154:6760:18011,LH00995:48:23YTGFLT4:3:2170:6598:21570,LH00995:48:23YTGFLT4:3:2314:48060:16175,LH00995:48:23YTGFLT4:3:2354:9041:17114,LH00995:48:23YTGFLT4:3:2433:32268:1827,LH00995:48:23YTGFLT4:3:2470:3678:10430,LH00995:48:23YTGFLT4:3:2481:28328:5428,LH00995:48:23YTGFLT4:3:2487:10797:15251,LH00995:48:23YTGFLT4:4:1107:32567:19216,LH00995:48:23YTGFLT4:4:1157:33222:2724,LH00995:48:23YTGFLT4:4:1232:10829:6759,LH00995:48:23YTGFLT4:4:1260:2909:20673,LH00995:48:23YTGFLT4:4:1281:6582:23560,LH00995:48:23YTGFLT4:4:1293:16889:3074,LH00995:48:23YTGFLT4:4:2141:19979:21290,LH00995:48:23YTGFLT4:4:2177:25642:27848,LH00995:48:23YTGFLT4:4:2191:21354:10388,LH00995:48:23YTGFLT4:4:2271:17576:26572,LH00995:48:23YTGFLT4:4:2326:49767:27455,LH00995:48:23YTGFLT4:4:2415:51927:7207,LH00995:48:23YTGFLT4:4:2420:43683:11509,LH00995:48:23YTGFLT4:4:2467:29857:11972,LH00995:48:23YTGFLT4:5:1101:44945:1448,LH00995:48:23YTGFLT4:5:1127:42939:11229,LH00995:48:23YTGFLT4:5:1212:3743:6114,LH00995:48:23YTGFLT4:5:1302:12795:20393,LH00995:48:23YTGFLT4:5:1319:51376:26488,LH00995:48:23YTGFLT4:5:1351:15238:28856,LH00995:48:23YTGFLT4:5:2121:31103:27609,LH00995:48:23YTGFLT4:5:2127:15198:6815,LH00995:48:23YTGFLT4:5:2152:17528:9730,LH00995:48:23YTGFLT4:6:1188:12601:15853,LH00995:48:23YTGFLT4:6:1206:35277:4069,LH00995:48:23YTGFLT4:6:1207:15869:7950,LH00995:48:23YTGFLT4:6:1228:28085:1560,LH00995:48:23YTGFLT4:6:1251:38991:3354,LH00995:48:23YTGFLT4:6:1388:49702:18964,LH00995:48:23YTGFLT4:6:1495:21201:25395,LH00995:48:23YTGFLT4:6:2134:4115:24162,LH00995:48:23YTGFLT4:6:2157:24396:7418,LH00995:48:23YTGFLT4:6:2162:44128:19706,LH00995:48:23YTGFLT4:6:2349:21686:6311,LH00995:48:23YTGFLT4:6:2421:38335:10262,LH00995:48:23YTGFLT4:7:1105:14753:18067,LH00995:48:23YTGFLT4:7:1190:4034:25872,LH00995:48:23YTGFLT4:7:1196:32001:23083,LH00995:48:23YTGFLT4:7:1336:37203:11523,LH00995:48:23YTGFLT4:7:1442:30213:15391,LH00995:48:23YTGFLT4:7:1484:27430:1098,LH00995:48:23YTGFLT4:7:1484:27438:1112,LH00995:48:23YTGFLT4:7:2195:46061:24008,LH00995:48:23YTGFLT4:7:2285:46175:21766,LH00995:48:23YTGFLT4:7:2294:15570:9393,LH00995:48:23YTGFLT4:7:2332:18693:17549,LH00995:48:23YTGFLT4:7:2442:34962:5652,LH00995:48:23YTGFLT4:7:2492:4552:14886,LH00995:48:23YTGFLT4:8:1194:2569:17086,LH00995:48:23YTGFLT4:8:1397:40916:6437,LH00995:48:23YTGFLT4:8:1416:36661:23167,LH00995:48:23YTGFLT4:8:1422:23676:26236,LH00995:48:23YTGFLT4:8:2338:40123:13191,LH00995:48:23YTGFLT4:8:2353:27794:18403,LH00995:48:23YTGFLT4:8:2378:2537:14956,LH00995:48:23YTGFLT4:8:2393:48076:15699
PCDHGA6 PCDHGC4 +/+ +/+ chr5:141376507 chr5:141494807 CDS CDS/splice-site deletion/read-through 30 21 0 395 18228 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(142),low_entropy(1),mismappers(1) CACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW LH00995:48:23YTGFLT4:1:1119:13887:22032,LH00995:48:23YTGFLT4:1:1119:13895:22018,LH00995:48:23YTGFLT4:1:1119:13904:22032,LH00995:48:23YTGFLT4:1:1128:39428:3326,LH00995:48:23YTGFLT4:1:1173:50762:7656,LH00995:48:23YTGFLT4:1:1222:22649:7081,LH00995:48:23YTGFLT4:1:1222:22665:7081,LH00995:48:23YTGFLT4:1:1224:33740:21892,LH00995:48:23YTGFLT4:1:1224:33756:21892,LH00995:48:23YTGFLT4:1:1247:17940:16862,LH00995:48:23YTGFLT4:1:1247:17949:16848,LH00995:48:23YTGFLT4:1:1343:13507:27988,LH00995:48:23YTGFLT4:1:1423:46013:10444,LH00995:48:23YTGFLT4:1:1476:32252:4937,LH00995:48:23YTGFLT4:1:2116:49047:22004,LH00995:48:23YTGFLT4:1:2155:29663:17577,LH00995:48:23YTGFLT4:1:2198:30529:24176,LH00995:48:23YTGFLT4:1:2237:45349:21710,LH00995:48:23YTGFLT4:1:2252:15562:21402,LH00995:48:23YTGFLT4:1:2263:14340:19342,LH00995:48:23YTGFLT4:1:2343:13936:5778,LH00995:48:23YTGFLT4:1:2482:38165:14928,LH00995:48:23YTGFLT4:2:1180:28805:29039,LH00995:48:23YTGFLT4:2:1180:28813:29025,LH00995:48:23YTGFLT4:2:1278:46061:7586,LH00995:48:23YTGFLT4:2:1359:34064:4881,LH00995:48:23YTGFLT4:2:1387:29501:8749,LH00995:48:23YTGFLT4:2:2136:15263:26124,LH00995:48:23YTGFLT4:2:2255:34873:3929,LH00995:48:23YTGFLT4:2:2264:52105:2359,LH00995:48:23YTGFLT4:2:2402:4665:13177,LH00995:48:23YTGFLT4:2:2402:4673:13163,LH00995:48:23YTGFLT4:2:2402:4681:13177,LH00995:48:23YTGFLT4:2:2442:47760:18655,LH00995:48:23YTGFLT4:2:2448:35261:21164,LH00995:48:23YTGFLT4:3:1120:4552:29263,LH00995:48:23YTGFLT4:3:1144:22981:14718,LH00995:48:23YTGFLT4:3:1152:21371:6241,LH00995:48:23YTGFLT4:3:1255:10805:28156,LH00995:48:23YTGFLT4:3:1314:30917:27707,LH00995:48:23YTGFLT4:3:1314:30925:27693,LH00995:48:23YTGFLT4:3:1345:16808:15068,LH00995:48:23YTGFLT4:3:1352:26775:2401,LH00995:48:23YTGFLT4:3:1352:26783:2387,LH00995:48:23YTGFLT4:3:1412:42542:25536,LH00995:48:23YTGFLT4:3:1491:33360:11257,LH00995:48:23YTGFLT4:3:2203:32591:24302,LH00995:48:23YTGFLT4:3:2210:4293:12560,LH00995:48:23YTGFLT4:3:2241:8321:14578,LH00995:48:23YTGFLT4:3:2414:40957:7600,LH00995:48:23YTGFLT4:4:1265:10271:25970,LH00995:48:23YTGFLT4:4:2170:5417:3130,LH00995:48:23YTGFLT4:4:2237:4794:28842,LH00995:48:23YTGFLT4:4:2277:47655:13233,LH00995:48:23YTGFLT4:4:2314:28805:26853,LH00995:48:23YTGFLT4:4:2383:23628:26769,LH00995:48:23YTGFLT4:4:2421:44848:5232,LH00995:48:23YTGFLT4:4:2493:49904:11383,LH00995:48:23YTGFLT4:5:1107:1566:9604,LH00995:48:23YTGFLT4:5:1118:41782:8777,LH00995:48:23YTGFLT4:5:1125:10926:17352,LH00995:48:23YTGFLT4:5:1271:40067:2555,LH00995:48:23YTGFLT4:5:1326:51506:7067,LH00995:48:23YTGFLT4:5:1345:44848:27231,LH00995:48:23YTGFLT4:5:1373:19647:2107,LH00995:48:23YTGFLT4:5:1383:44233:23027,LH00995:48:23YTGFLT4:5:1389:31249:22257,LH00995:48:23YTGFLT4:5:1412:35957:14578,LH00995:48:23YTGFLT4:5:1442:21921:21878,LH00995:48:23YTGFLT4:5:2189:13669:12686,LH00995:48:23YTGFLT4:5:2226:20481:10865,LH00995:48:23YTGFLT4:5:2289:39589:19833,LH00995:48:23YTGFLT4:5:2324:25893:14886,LH00995:48:23YTGFLT4:5:2324:25893:14914,LH00995:48:23YTGFLT4:5:2324:25901:14900,LH00995:48:23YTGFLT4:5:2324:25901:14928,LH00995:48:23YTGFLT4:5:2324:25909:14886,LH00995:48:23YTGFLT4:5:2378:10781:7432,LH00995:48:23YTGFLT4:5:2403:13556:19917,LH00995:48:23YTGFLT4:5:2432:13798:7193,LH00995:48:23YTGFLT4:6:1398:5830:28926,LH00995:48:23YTGFLT4:6:2153:39201:25998,LH00995:48:23YTGFLT4:6:2218:22568:26362,LH00995:48:23YTGFLT4:6:2238:4786:15040,LH00995:48:23YTGFLT4:6:2383:32430:28226,LH00995:48:23YTGFLT4:6:2443:50665:2051,LH00995:48:23YTGFLT4:6:2463:17884:10795,LH00995:48:23YTGFLT4:6:2483:45042:2766,LH00995:48:23YTGFLT4:7:1166:39039:6128,LH00995:48:23YTGFLT4:7:1322:35269:25522,LH00995:48:23YTGFLT4:7:1441:46401:26110,LH00995:48:23YTGFLT4:7:2208:16962:10514,LH00995:48:23YTGFLT4:7:2219:43141:4069,LH00995:48:23YTGFLT4:7:2219:43157:4069,LH00995:48:23YTGFLT4:7:2223:48982:26460,LH00995:48:23YTGFLT4:7:2288:40851:3270,LH00995:48:23YTGFLT4:7:2356:30844:12504,LH00995:48:23YTGFLT4:8:1107:12455:21542,LH00995:48:23YTGFLT4:8:1140:41701:4097,LH00995:48:23YTGFLT4:8:1140:41717:4097,LH00995:48:23YTGFLT4:8:1145:11857:24120,LH00995:48:23YTGFLT4:8:1145:11865:24106,LH00995:48:23YTGFLT4:8:1230:10668:23013,LH00995:48:23YTGFLT4:8:1289:3006:8202,LH00995:48:23YTGFLT4:8:1388:23676:27357,LH00995:48:23YTGFLT4:8:2139:24979:25241,LH00995:48:23YTGFLT4:8:2436:22091:18165,LH00995:48:23YTGFLT4:8:2466:18175:28226,LH00995:48:23YTGFLT4:1:1127:15934:20813,LH00995:48:23YTGFLT4:1:1278:8410:20393,LH00995:48:23YTGFLT4:1:1306:7788:13149,LH00995:48:23YTGFLT4:1:1325:9017:1154,LH00995:48:23YTGFLT4:1:1365:18798:21626,LH00995:48:23YTGFLT4:1:2202:35423:9449,LH00995:48:23YTGFLT4:1:2267:20303:1925,LH00995:48:23YTGFLT4:1:2334:24065:20603,LH00995:48:23YTGFLT4:1:2495:30577:12266,LH00995:48:23YTGFLT4:1:2495:31046:9295,LH00995:48:23YTGFLT4:2:1214:51918:8398,LH00995:48:23YTGFLT4:2:1258:28644:21444,LH00995:48:23YTGFLT4:2:1267:26556:4153,LH00995:48:23YTGFLT4:2:1276:11250:25592,LH00995:48:23YTGFLT4:2:1348:30747:29431,LH00995:48:23YTGFLT4:2:1422:16428:1631,LH00995:48:23YTGFLT4:2:2405:19041:26586,LH00995:48:23YTGFLT4:3:1209:30334:16385,LH00995:48:23YTGFLT4:3:1294:48326:3578,LH00995:48:23YTGFLT4:3:1335:33069:5372,LH00995:48:23YTGFLT4:3:1369:20367:26839,LH00995:48:23YTGFLT4:3:1369:20376:26825,LH00995:48:23YTGFLT4:3:2130:5506:5190,LH00995:48:23YTGFLT4:3:2154:6760:18011,LH00995:48:23YTGFLT4:3:2170:6598:21570,LH00995:48:23YTGFLT4:3:2314:48060:16175,LH00995:48:23YTGFLT4:3:2354:9041:17114,LH00995:48:23YTGFLT4:3:2433:32268:1827,LH00995:48:23YTGFLT4:3:2470:3678:10430,LH00995:48:23YTGFLT4:3:2481:28328:5428,LH00995:48:23YTGFLT4:3:2487:10797:15251,LH00995:48:23YTGFLT4:4:1107:32567:19216,LH00995:48:23YTGFLT4:4:1157:33222:2724,LH00995:48:23YTGFLT4:4:1232:10829:6759,LH00995:48:23YTGFLT4:4:1260:2909:20673,LH00995:48:23YTGFLT4:4:1281:6582:23560,LH00995:48:23YTGFLT4:4:1293:16889:3074,LH00995:48:23YTGFLT4:4:2141:19979:21290,LH00995:48:23YTGFLT4:4:2177:25642:27848,LH00995:48:23YTGFLT4:4:2191:21354:10388,LH00995:48:23YTGFLT4:4:2271:17576:26572,LH00995:48:23YTGFLT4:4:2326:49767:27455,LH00995:48:23YTGFLT4:4:2415:51927:7207,LH00995:48:23YTGFLT4:4:2420:43683:11509,LH00995:48:23YTGFLT4:4:2467:29857:11972,LH00995:48:23YTGFLT4:5:1101:44945:1448,LH00995:48:23YTGFLT4:5:1127:42939:11229,LH00995:48:23YTGFLT4:5:1212:3743:6114,LH00995:48:23YTGFLT4:5:1302:12795:20393,LH00995:48:23YTGFLT4:5:1319:51376:26488,LH00995:48:23YTGFLT4:5:1351:15238:28856,LH00995:48:23YTGFLT4:5:2121:31103:27609,LH00995:48:23YTGFLT4:5:2127:15198:6815,LH00995:48:23YTGFLT4:5:2152:17528:9730,LH00995:48:23YTGFLT4:6:1188:12601:15853,LH00995:48:23YTGFLT4:6:1206:35277:4069,LH00995:48:23YTGFLT4:6:1207:15869:7950,LH00995:48:23YTGFLT4:6:1228:28085:1560,LH00995:48:23YTGFLT4:6:1251:38991:3354,LH00995:48:23YTGFLT4:6:1388:49702:18964,LH00995:48:23YTGFLT4:6:1495:21201:25395,LH00995:48:23YTGFLT4:6:2134:4115:24162,LH00995:48:23YTGFLT4:6:2157:24396:7418,LH00995:48:23YTGFLT4:6:2162:44128:19706,LH00995:48:23YTGFLT4:6:2349:21686:6311,LH00995:48:23YTGFLT4:6:2421:38335:10262,LH00995:48:23YTGFLT4:7:1105:14753:18067,LH00995:48:23YTGFLT4:7:1190:4034:25872,LH00995:48:23YTGFLT4:7:1196:32001:23083,LH00995:48:23YTGFLT4:7:1336:37203:11523,LH00995:48:23YTGFLT4:7:1442:30213:15391,LH00995:48:23YTGFLT4:7:1484:27430:1098,LH00995:48:23YTGFLT4:7:1484:27438:1112,LH00995:48:23YTGFLT4:7:2195:46061:24008,LH00995:48:23YTGFLT4:7:2285:46175:21766,LH00995:48:23YTGFLT4:7:2294:15570:9393,LH00995:48:23YTGFLT4:7:2332:18693:17549,LH00995:48:23YTGFLT4:7:2442:34962:5652,LH00995:48:23YTGFLT4:7:2492:4552:14886,LH00995:48:23YTGFLT4:8:1194:2569:17086,LH00995:48:23YTGFLT4:8:1397:40916:6437,LH00995:48:23YTGFLT4:8:1416:36661:23167,LH00995:48:23YTGFLT4:8:1422:23676:26236,LH00995:48:23YTGFLT4:8:2338:40123:13191,LH00995:48:23YTGFLT4:8:2353:27794:18403,LH00995:48:23YTGFLT4:8:2378:2537:14956,LH00995:48:23YTGFLT4:8:2393:48076:15699
PCDHGA6 PCDHGA10 +/+ +/+ chr5:141376507 chr5:141494807 CDS CDS/splice-site deletion/read-through 30 21 0 395 18228 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(142),low_entropy(1),mismappers(1) CACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW LH00995:48:23YTGFLT4:1:1119:13887:22032,LH00995:48:23YTGFLT4:1:1119:13895:22018,LH00995:48:23YTGFLT4:1:1119:13904:22032,LH00995:48:23YTGFLT4:1:1128:39428:3326,LH00995:48:23YTGFLT4:1:1173:50762:7656,LH00995:48:23YTGFLT4:1:1222:22649:7081,LH00995:48:23YTGFLT4:1:1222:22665:7081,LH00995:48:23YTGFLT4:1:1224:33740:21892,LH00995:48:23YTGFLT4:1:1224:33756:21892,LH00995:48:23YTGFLT4:1:1247:17940:16862,LH00995:48:23YTGFLT4:1:1247:17949:16848,LH00995:48:23YTGFLT4:1:1343:13507:27988,LH00995:48:23YTGFLT4:1:1423:46013:10444,LH00995:48:23YTGFLT4:1:1476:32252:4937,LH00995:48:23YTGFLT4:1:2116:49047:22004,LH00995:48:23YTGFLT4:1:2155:29663:17577,LH00995:48:23YTGFLT4:1:2198:30529:24176,LH00995:48:23YTGFLT4:1:2237:45349:21710,LH00995:48:23YTGFLT4:1:2252:15562:21402,LH00995:48:23YTGFLT4:1:2263:14340:19342,LH00995:48:23YTGFLT4:1:2343:13936:5778,LH00995:48:23YTGFLT4:1:2482:38165:14928,LH00995:48:23YTGFLT4:2:1180:28805:29039,LH00995:48:23YTGFLT4:2:1180:28813:29025,LH00995:48:23YTGFLT4:2:1278:46061:7586,LH00995:48:23YTGFLT4:2:1359:34064:4881,LH00995:48:23YTGFLT4:2:1387:29501:8749,LH00995:48:23YTGFLT4:2:2136:15263:26124,LH00995:48:23YTGFLT4:2:2255:34873:3929,LH00995:48:23YTGFLT4:2:2264:52105:2359,LH00995:48:23YTGFLT4:2:2402:4665:13177,LH00995:48:23YTGFLT4:2:2402:4673:13163,LH00995:48:23YTGFLT4:2:2402:4681:13177,LH00995:48:23YTGFLT4:2:2442:47760:18655,LH00995:48:23YTGFLT4:2:2448:35261:21164,LH00995:48:23YTGFLT4:3:1120:4552:29263,LH00995:48:23YTGFLT4:3:1144:22981:14718,LH00995:48:23YTGFLT4:3:1152:21371:6241,LH00995:48:23YTGFLT4:3:1255:10805:28156,LH00995:48:23YTGFLT4:3:1314:30917:27707,LH00995:48:23YTGFLT4:3:1314:30925:27693,LH00995:48:23YTGFLT4:3:1345:16808:15068,LH00995:48:23YTGFLT4:3:1352:26775:2401,LH00995:48:23YTGFLT4:3:1352:26783:2387,LH00995:48:23YTGFLT4:3:1412:42542:25536,LH00995:48:23YTGFLT4:3:1491:33360:11257,LH00995:48:23YTGFLT4:3:2203:32591:24302,LH00995:48:23YTGFLT4:3:2210:4293:12560,LH00995:48:23YTGFLT4:3:2241:8321:14578,LH00995:48:23YTGFLT4:3:2414:40957:7600,LH00995:48:23YTGFLT4:4:1265:10271:25970,LH00995:48:23YTGFLT4:4:2170:5417:3130,LH00995:48:23YTGFLT4:4:2237:4794:28842,LH00995:48:23YTGFLT4:4:2277:47655:13233,LH00995:48:23YTGFLT4:4:2314:28805:26853,LH00995:48:23YTGFLT4:4:2383:23628:26769,LH00995:48:23YTGFLT4:4:2421:44848:5232,LH00995:48:23YTGFLT4:4:2493:49904:11383,LH00995:48:23YTGFLT4:5:1107:1566:9604,LH00995:48:23YTGFLT4:5:1118:41782:8777,LH00995:48:23YTGFLT4:5:1125:10926:17352,LH00995:48:23YTGFLT4:5:1271:40067:2555,LH00995:48:23YTGFLT4:5:1326:51506:7067,LH00995:48:23YTGFLT4:5:1345:44848:27231,LH00995:48:23YTGFLT4:5:1373:19647:2107,LH00995:48:23YTGFLT4:5:1383:44233:23027,LH00995:48:23YTGFLT4:5:1389:31249:22257,LH00995:48:23YTGFLT4:5:1412:35957:14578,LH00995:48:23YTGFLT4:5:1442:21921:21878,LH00995:48:23YTGFLT4:5:2189:13669:12686,LH00995:48:23YTGFLT4:5:2226:20481:10865,LH00995:48:23YTGFLT4:5:2289:39589:19833,LH00995:48:23YTGFLT4:5:2324:25893:14886,LH00995:48:23YTGFLT4:5:2324:25893:14914,LH00995:48:23YTGFLT4:5:2324:25901:14900,LH00995:48:23YTGFLT4:5:2324:25901:14928,LH00995:48:23YTGFLT4:5:2324:25909:14886,LH00995:48:23YTGFLT4:5:2378:10781:7432,LH00995:48:23YTGFLT4:5:2403:13556:19917,LH00995:48:23YTGFLT4:5:2432:13798:7193,LH00995:48:23YTGFLT4:6:1398:5830:28926,LH00995:48:23YTGFLT4:6:2153:39201:25998,LH00995:48:23YTGFLT4:6:2218:22568:26362,LH00995:48:23YTGFLT4:6:2238:4786:15040,LH00995:48:23YTGFLT4:6:2383:32430:28226,LH00995:48:23YTGFLT4:6:2443:50665:2051,LH00995:48:23YTGFLT4:6:2463:17884:10795,LH00995:48:23YTGFLT4:6:2483:45042:2766,LH00995:48:23YTGFLT4:7:1166:39039:6128,LH00995:48:23YTGFLT4:7:1322:35269:25522,LH00995:48:23YTGFLT4:7:1441:46401:26110,LH00995:48:23YTGFLT4:7:2208:16962:10514,LH00995:48:23YTGFLT4:7:2219:43141:4069,LH00995:48:23YTGFLT4:7:2219:43157:4069,LH00995:48:23YTGFLT4:7:2223:48982:26460,LH00995:48:23YTGFLT4:7:2288:40851:3270,LH00995:48:23YTGFLT4:7:2356:30844:12504,LH00995:48:23YTGFLT4:8:1107:12455:21542,LH00995:48:23YTGFLT4:8:1140:41701:4097,LH00995:48:23YTGFLT4:8:1140:41717:4097,LH00995:48:23YTGFLT4:8:1145:11857:24120,LH00995:48:23YTGFLT4:8:1145:11865:24106,LH00995:48:23YTGFLT4:8:1230:10668:23013,LH00995:48:23YTGFLT4:8:1289:3006:8202,LH00995:48:23YTGFLT4:8:1388:23676:27357,LH00995:48:23YTGFLT4:8:2139:24979:25241,LH00995:48:23YTGFLT4:8:2436:22091:18165,LH00995:48:23YTGFLT4:8:2466:18175:28226,LH00995:48:23YTGFLT4:1:1127:15934:20813,LH00995:48:23YTGFLT4:1:1278:8410:20393,LH00995:48:23YTGFLT4:1:1306:7788:13149,LH00995:48:23YTGFLT4:1:1325:9017:1154,LH00995:48:23YTGFLT4:1:1365:18798:21626,LH00995:48:23YTGFLT4:1:2202:35423:9449,LH00995:48:23YTGFLT4:1:2267:20303:1925,LH00995:48:23YTGFLT4:1:2334:24065:20603,LH00995:48:23YTGFLT4:1:2495:30577:12266,LH00995:48:23YTGFLT4:1:2495:31046:9295,LH00995:48:23YTGFLT4:2:1214:51918:8398,LH00995:48:23YTGFLT4:2:1258:28644:21444,LH00995:48:23YTGFLT4:2:1267:26556:4153,LH00995:48:23YTGFLT4:2:1276:11250:25592,LH00995:48:23YTGFLT4:2:1348:30747:29431,LH00995:48:23YTGFLT4:2:1422:16428:1631,LH00995:48:23YTGFLT4:2:2405:19041:26586,LH00995:48:23YTGFLT4:3:1209:30334:16385,LH00995:48:23YTGFLT4:3:1294:48326:3578,LH00995:48:23YTGFLT4:3:1335:33069:5372,LH00995:48:23YTGFLT4:3:1369:20367:26839,LH00995:48:23YTGFLT4:3:1369:20376:26825,LH00995:48:23YTGFLT4:3:2130:5506:5190,LH00995:48:23YTGFLT4:3:2154:6760:18011,LH00995:48:23YTGFLT4:3:2170:6598:21570,LH00995:48:23YTGFLT4:3:2314:48060:16175,LH00995:48:23YTGFLT4:3:2354:9041:17114,LH00995:48:23YTGFLT4:3:2433:32268:1827,LH00995:48:23YTGFLT4:3:2470:3678:10430,LH00995:48:23YTGFLT4:3:2481:28328:5428,LH00995:48:23YTGFLT4:3:2487:10797:15251,LH00995:48:23YTGFLT4:4:1107:32567:19216,LH00995:48:23YTGFLT4:4:1157:33222:2724,LH00995:48:23YTGFLT4:4:1232:10829:6759,LH00995:48:23YTGFLT4:4:1260:2909:20673,LH00995:48:23YTGFLT4:4:1281:6582:23560,LH00995:48:23YTGFLT4:4:1293:16889:3074,LH00995:48:23YTGFLT4:4:2141:19979:21290,LH00995:48:23YTGFLT4:4:2177:25642:27848,LH00995:48:23YTGFLT4:4:2191:21354:10388,LH00995:48:23YTGFLT4:4:2271:17576:26572,LH00995:48:23YTGFLT4:4:2326:49767:27455,LH00995:48:23YTGFLT4:4:2415:51927:7207,LH00995:48:23YTGFLT4:4:2420:43683:11509,LH00995:48:23YTGFLT4:4:2467:29857:11972,LH00995:48:23YTGFLT4:5:1101:44945:1448,LH00995:48:23YTGFLT4:5:1127:42939:11229,LH00995:48:23YTGFLT4:5:1212:3743:6114,LH00995:48:23YTGFLT4:5:1302:12795:20393,LH00995:48:23YTGFLT4:5:1319:51376:26488,LH00995:48:23YTGFLT4:5:1351:15238:28856,LH00995:48:23YTGFLT4:5:2121:31103:27609,LH00995:48:23YTGFLT4:5:2127:15198:6815,LH00995:48:23YTGFLT4:5:2152:17528:9730,LH00995:48:23YTGFLT4:6:1188:12601:15853,LH00995:48:23YTGFLT4:6:1206:35277:4069,LH00995:48:23YTGFLT4:6:1207:15869:7950,LH00995:48:23YTGFLT4:6:1228:28085:1560,LH00995:48:23YTGFLT4:6:1251:38991:3354,LH00995:48:23YTGFLT4:6:1388:49702:18964,LH00995:48:23YTGFLT4:6:1495:21201:25395,LH00995:48:23YTGFLT4:6:2134:4115:24162,LH00995:48:23YTGFLT4:6:2157:24396:7418,LH00995:48:23YTGFLT4:6:2162:44128:19706,LH00995:48:23YTGFLT4:6:2349:21686:6311,LH00995:48:23YTGFLT4:6:2421:38335:10262,LH00995:48:23YTGFLT4:7:1105:14753:18067,LH00995:48:23YTGFLT4:7:1190:4034:25872,LH00995:48:23YTGFLT4:7:1196:32001:23083,LH00995:48:23YTGFLT4:7:1336:37203:11523,LH00995:48:23YTGFLT4:7:1442:30213:15391,LH00995:48:23YTGFLT4:7:1484:27430:1098,LH00995:48:23YTGFLT4:7:1484:27438:1112,LH00995:48:23YTGFLT4:7:2195:46061:24008,LH00995:48:23YTGFLT4:7:2285:46175:21766,LH00995:48:23YTGFLT4:7:2294:15570:9393,LH00995:48:23YTGFLT4:7:2332:18693:17549,LH00995:48:23YTGFLT4:7:2442:34962:5652,LH00995:48:23YTGFLT4:7:2492:4552:14886,LH00995:48:23YTGFLT4:8:1194:2569:17086,LH00995:48:23YTGFLT4:8:1397:40916:6437,LH00995:48:23YTGFLT4:8:1416:36661:23167,LH00995:48:23YTGFLT4:8:1422:23676:26236,LH00995:48:23YTGFLT4:8:2338:40123:13191,LH00995:48:23YTGFLT4:8:2353:27794:18403,LH00995:48:23YTGFLT4:8:2378:2537:14956,LH00995:48:23YTGFLT4:8:2393:48076:15699
PCDHGA6 PCDHGA9 +/+ +/+ chr5:141376507 chr5:141494807 CDS CDS/splice-site deletion/read-through 30 21 0 395 18228 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(142),low_entropy(1),mismappers(1) CACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW LH00995:48:23YTGFLT4:1:1119:13887:22032,LH00995:48:23YTGFLT4:1:1119:13895:22018,LH00995:48:23YTGFLT4:1:1119:13904:22032,LH00995:48:23YTGFLT4:1:1128:39428:3326,LH00995:48:23YTGFLT4:1:1173:50762:7656,LH00995:48:23YTGFLT4:1:1222:22649:7081,LH00995:48:23YTGFLT4:1:1222:22665:7081,LH00995:48:23YTGFLT4:1:1224:33740:21892,LH00995:48:23YTGFLT4:1:1224:33756:21892,LH00995:48:23YTGFLT4:1:1247:17940:16862,LH00995:48:23YTGFLT4:1:1247:17949:16848,LH00995:48:23YTGFLT4:1:1343:13507:27988,LH00995:48:23YTGFLT4:1:1423:46013:10444,LH00995:48:23YTGFLT4:1:1476:32252:4937,LH00995:48:23YTGFLT4:1:2116:49047:22004,LH00995:48:23YTGFLT4:1:2155:29663:17577,LH00995:48:23YTGFLT4:1:2198:30529:24176,LH00995:48:23YTGFLT4:1:2237:45349:21710,LH00995:48:23YTGFLT4:1:2252:15562:21402,LH00995:48:23YTGFLT4:1:2263:14340:19342,LH00995:48:23YTGFLT4:1:2343:13936:5778,LH00995:48:23YTGFLT4:1:2482:38165:14928,LH00995:48:23YTGFLT4:2:1180:28805:29039,LH00995:48:23YTGFLT4:2:1180:28813:29025,LH00995:48:23YTGFLT4:2:1278:46061:7586,LH00995:48:23YTGFLT4:2:1359:34064:4881,LH00995:48:23YTGFLT4:2:1387:29501:8749,LH00995:48:23YTGFLT4:2:2136:15263:26124,LH00995:48:23YTGFLT4:2:2255:34873:3929,LH00995:48:23YTGFLT4:2:2264:52105:2359,LH00995:48:23YTGFLT4:2:2402:4665:13177,LH00995:48:23YTGFLT4:2:2402:4673:13163,LH00995:48:23YTGFLT4:2:2402:4681:13177,LH00995:48:23YTGFLT4:2:2442:47760:18655,LH00995:48:23YTGFLT4:2:2448:35261:21164,LH00995:48:23YTGFLT4:3:1120:4552:29263,LH00995:48:23YTGFLT4:3:1144:22981:14718,LH00995:48:23YTGFLT4:3:1152:21371:6241,LH00995:48:23YTGFLT4:3:1255:10805:28156,LH00995:48:23YTGFLT4:3:1314:30917:27707,LH00995:48:23YTGFLT4:3:1314:30925:27693,LH00995:48:23YTGFLT4:3:1345:16808:15068,LH00995:48:23YTGFLT4:3:1352:26775:2401,LH00995:48:23YTGFLT4:3:1352:26783:2387,LH00995:48:23YTGFLT4:3:1412:42542:25536,LH00995:48:23YTGFLT4:3:1491:33360:11257,LH00995:48:23YTGFLT4:3:2203:32591:24302,LH00995:48:23YTGFLT4:3:2210:4293:12560,LH00995:48:23YTGFLT4:3:2241:8321:14578,LH00995:48:23YTGFLT4:3:2414:40957:7600,LH00995:48:23YTGFLT4:4:1265:10271:25970,LH00995:48:23YTGFLT4:4:2170:5417:3130,LH00995:48:23YTGFLT4:4:2237:4794:28842,LH00995:48:23YTGFLT4:4:2277:47655:13233,LH00995:48:23YTGFLT4:4:2314:28805:26853,LH00995:48:23YTGFLT4:4:2383:23628:26769,LH00995:48:23YTGFLT4:4:2421:44848:5232,LH00995:48:23YTGFLT4:4:2493:49904:11383,LH00995:48:23YTGFLT4:5:1107:1566:9604,LH00995:48:23YTGFLT4:5:1118:41782:8777,LH00995:48:23YTGFLT4:5:1125:10926:17352,LH00995:48:23YTGFLT4:5:1271:40067:2555,LH00995:48:23YTGFLT4:5:1326:51506:7067,LH00995:48:23YTGFLT4:5:1345:44848:27231,LH00995:48:23YTGFLT4:5:1373:19647:2107,LH00995:48:23YTGFLT4:5:1383:44233:23027,LH00995:48:23YTGFLT4:5:1389:31249:22257,LH00995:48:23YTGFLT4:5:1412:35957:14578,LH00995:48:23YTGFLT4:5:1442:21921:21878,LH00995:48:23YTGFLT4:5:2189:13669:12686,LH00995:48:23YTGFLT4:5:2226:20481:10865,LH00995:48:23YTGFLT4:5:2289:39589:19833,LH00995:48:23YTGFLT4:5:2324:25893:14886,LH00995:48:23YTGFLT4:5:2324:25893:14914,LH00995:48:23YTGFLT4:5:2324:25901:14900,LH00995:48:23YTGFLT4:5:2324:25901:14928,LH00995:48:23YTGFLT4:5:2324:25909:14886,LH00995:48:23YTGFLT4:5:2378:10781:7432,LH00995:48:23YTGFLT4:5:2403:13556:19917,LH00995:48:23YTGFLT4:5:2432:13798:7193,LH00995:48:23YTGFLT4:6:1398:5830:28926,LH00995:48:23YTGFLT4:6:2153:39201:25998,LH00995:48:23YTGFLT4:6:2218:22568:26362,LH00995:48:23YTGFLT4:6:2238:4786:15040,LH00995:48:23YTGFLT4:6:2383:32430:28226,LH00995:48:23YTGFLT4:6:2443:50665:2051,LH00995:48:23YTGFLT4:6:2463:17884:10795,LH00995:48:23YTGFLT4:6:2483:45042:2766,LH00995:48:23YTGFLT4:7:1166:39039:6128,LH00995:48:23YTGFLT4:7:1322:35269:25522,LH00995:48:23YTGFLT4:7:1441:46401:26110,LH00995:48:23YTGFLT4:7:2208:16962:10514,LH00995:48:23YTGFLT4:7:2219:43141:4069,LH00995:48:23YTGFLT4:7:2219:43157:4069,LH00995:48:23YTGFLT4:7:2223:48982:26460,LH00995:48:23YTGFLT4:7:2288:40851:3270,LH00995:48:23YTGFLT4:7:2356:30844:12504,LH00995:48:23YTGFLT4:8:1107:12455:21542,LH00995:48:23YTGFLT4:8:1140:41701:4097,LH00995:48:23YTGFLT4:8:1140:41717:4097,LH00995:48:23YTGFLT4:8:1145:11857:24120,LH00995:48:23YTGFLT4:8:1145:11865:24106,LH00995:48:23YTGFLT4:8:1230:10668:23013,LH00995:48:23YTGFLT4:8:1289:3006:8202,LH00995:48:23YTGFLT4:8:1388:23676:27357,LH00995:48:23YTGFLT4:8:2139:24979:25241,LH00995:48:23YTGFLT4:8:2436:22091:18165,LH00995:48:23YTGFLT4:8:2466:18175:28226,LH00995:48:23YTGFLT4:1:1127:15934:20813,LH00995:48:23YTGFLT4:1:1278:8410:20393,LH00995:48:23YTGFLT4:1:1306:7788:13149,LH00995:48:23YTGFLT4:1:1325:9017:1154,LH00995:48:23YTGFLT4:1:1365:18798:21626,LH00995:48:23YTGFLT4:1:2202:35423:9449,LH00995:48:23YTGFLT4:1:2267:20303:1925,LH00995:48:23YTGFLT4:1:2334:24065:20603,LH00995:48:23YTGFLT4:1:2495:30577:12266,LH00995:48:23YTGFLT4:1:2495:31046:9295,LH00995:48:23YTGFLT4:2:1214:51918:8398,LH00995:48:23YTGFLT4:2:1258:28644:21444,LH00995:48:23YTGFLT4:2:1267:26556:4153,LH00995:48:23YTGFLT4:2:1276:11250:25592,LH00995:48:23YTGFLT4:2:1348:30747:29431,LH00995:48:23YTGFLT4:2:1422:16428:1631,LH00995:48:23YTGFLT4:2:2405:19041:26586,LH00995:48:23YTGFLT4:3:1209:30334:16385,LH00995:48:23YTGFLT4:3:1294:48326:3578,LH00995:48:23YTGFLT4:3:1335:33069:5372,LH00995:48:23YTGFLT4:3:1369:20367:26839,LH00995:48:23YTGFLT4:3:1369:20376:26825,LH00995:48:23YTGFLT4:3:2130:5506:5190,LH00995:48:23YTGFLT4:3:2154:6760:18011,LH00995:48:23YTGFLT4:3:2170:6598:21570,LH00995:48:23YTGFLT4:3:2314:48060:16175,LH00995:48:23YTGFLT4:3:2354:9041:17114,LH00995:48:23YTGFLT4:3:2433:32268:1827,LH00995:48:23YTGFLT4:3:2470:3678:10430,LH00995:48:23YTGFLT4:3:2481:28328:5428,LH00995:48:23YTGFLT4:3:2487:10797:15251,LH00995:48:23YTGFLT4:4:1107:32567:19216,LH00995:48:23YTGFLT4:4:1157:33222:2724,LH00995:48:23YTGFLT4:4:1232:10829:6759,LH00995:48:23YTGFLT4:4:1260:2909:20673,LH00995:48:23YTGFLT4:4:1281:6582:23560,LH00995:48:23YTGFLT4:4:1293:16889:3074,LH00995:48:23YTGFLT4:4:2141:19979:21290,LH00995:48:23YTGFLT4:4:2177:25642:27848,LH00995:48:23YTGFLT4:4:2191:21354:10388,LH00995:48:23YTGFLT4:4:2271:17576:26572,LH00995:48:23YTGFLT4:4:2326:49767:27455,LH00995:48:23YTGFLT4:4:2415:51927:7207,LH00995:48:23YTGFLT4:4:2420:43683:11509,LH00995:48:23YTGFLT4:4:2467:29857:11972,LH00995:48:23YTGFLT4:5:1101:44945:1448,LH00995:48:23YTGFLT4:5:1127:42939:11229,LH00995:48:23YTGFLT4:5:1212:3743:6114,LH00995:48:23YTGFLT4:5:1302:12795:20393,LH00995:48:23YTGFLT4:5:1319:51376:26488,LH00995:48:23YTGFLT4:5:1351:15238:28856,LH00995:48:23YTGFLT4:5:2121:31103:27609,LH00995:48:23YTGFLT4:5:2127:15198:6815,LH00995:48:23YTGFLT4:5:2152:17528:9730,LH00995:48:23YTGFLT4:6:1188:12601:15853,LH00995:48:23YTGFLT4:6:1206:35277:4069,LH00995:48:23YTGFLT4:6:1207:15869:7950,LH00995:48:23YTGFLT4:6:1228:28085:1560,LH00995:48:23YTGFLT4:6:1251:38991:3354,LH00995:48:23YTGFLT4:6:1388:49702:18964,LH00995:48:23YTGFLT4:6:1495:21201:25395,LH00995:48:23YTGFLT4:6:2134:4115:24162,LH00995:48:23YTGFLT4:6:2157:24396:7418,LH00995:48:23YTGFLT4:6:2162:44128:19706,LH00995:48:23YTGFLT4:6:2349:21686:6311,LH00995:48:23YTGFLT4:6:2421:38335:10262,LH00995:48:23YTGFLT4:7:1105:14753:18067,LH00995:48:23YTGFLT4:7:1190:4034:25872,LH00995:48:23YTGFLT4:7:1196:32001:23083,LH00995:48:23YTGFLT4:7:1336:37203:11523,LH00995:48:23YTGFLT4:7:1442:30213:15391,LH00995:48:23YTGFLT4:7:1484:27430:1098,LH00995:48:23YTGFLT4:7:1484:27438:1112,LH00995:48:23YTGFLT4:7:2195:46061:24008,LH00995:48:23YTGFLT4:7:2285:46175:21766,LH00995:48:23YTGFLT4:7:2294:15570:9393,LH00995:48:23YTGFLT4:7:2332:18693:17549,LH00995:48:23YTGFLT4:7:2442:34962:5652,LH00995:48:23YTGFLT4:7:2492:4552:14886,LH00995:48:23YTGFLT4:8:1194:2569:17086,LH00995:48:23YTGFLT4:8:1397:40916:6437,LH00995:48:23YTGFLT4:8:1416:36661:23167,LH00995:48:23YTGFLT4:8:1422:23676:26236,LH00995:48:23YTGFLT4:8:2338:40123:13191,LH00995:48:23YTGFLT4:8:2353:27794:18403,LH00995:48:23YTGFLT4:8:2378:2537:14956,LH00995:48:23YTGFLT4:8:2393:48076:15699
PCDHGA6 PCDHGC5 +/+ +/+ chr5:141376507 chr5:141494807 CDS CDS/splice-site deletion/read-through 30 21 0 395 18228 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(142),low_entropy(1),mismappers(1) CACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW LH00995:48:23YTGFLT4:1:1119:13887:22032,LH00995:48:23YTGFLT4:1:1119:13895:22018,LH00995:48:23YTGFLT4:1:1119:13904:22032,LH00995:48:23YTGFLT4:1:1128:39428:3326,LH00995:48:23YTGFLT4:1:1173:50762:7656,LH00995:48:23YTGFLT4:1:1222:22649:7081,LH00995:48:23YTGFLT4:1:1222:22665:7081,LH00995:48:23YTGFLT4:1:1224:33740:21892,LH00995:48:23YTGFLT4:1:1224:33756:21892,LH00995:48:23YTGFLT4:1:1247:17940:16862,LH00995:48:23YTGFLT4:1:1247:17949:16848,LH00995:48:23YTGFLT4:1:1343:13507:27988,LH00995:48:23YTGFLT4:1:1423:46013:10444,LH00995:48:23YTGFLT4:1:1476:32252:4937,LH00995:48:23YTGFLT4:1:2116:49047:22004,LH00995:48:23YTGFLT4:1:2155:29663:17577,LH00995:48:23YTGFLT4:1:2198:30529:24176,LH00995:48:23YTGFLT4:1:2237:45349:21710,LH00995:48:23YTGFLT4:1:2252:15562:21402,LH00995:48:23YTGFLT4:1:2263:14340:19342,LH00995:48:23YTGFLT4:1:2343:13936:5778,LH00995:48:23YTGFLT4:1:2482:38165:14928,LH00995:48:23YTGFLT4:2:1180:28805:29039,LH00995:48:23YTGFLT4:2:1180:28813:29025,LH00995:48:23YTGFLT4:2:1278:46061:7586,LH00995:48:23YTGFLT4:2:1359:34064:4881,LH00995:48:23YTGFLT4:2:1387:29501:8749,LH00995:48:23YTGFLT4:2:2136:15263:26124,LH00995:48:23YTGFLT4:2:2255:34873:3929,LH00995:48:23YTGFLT4:2:2264:52105:2359,LH00995:48:23YTGFLT4:2:2402:4665:13177,LH00995:48:23YTGFLT4:2:2402:4673:13163,LH00995:48:23YTGFLT4:2:2402:4681:13177,LH00995:48:23YTGFLT4:2:2442:47760:18655,LH00995:48:23YTGFLT4:2:2448:35261:21164,LH00995:48:23YTGFLT4:3:1120:4552:29263,LH00995:48:23YTGFLT4:3:1144:22981:14718,LH00995:48:23YTGFLT4:3:1152:21371:6241,LH00995:48:23YTGFLT4:3:1255:10805:28156,LH00995:48:23YTGFLT4:3:1314:30917:27707,LH00995:48:23YTGFLT4:3:1314:30925:27693,LH00995:48:23YTGFLT4:3:1345:16808:15068,LH00995:48:23YTGFLT4:3:1352:26775:2401,LH00995:48:23YTGFLT4:3:1352:26783:2387,LH00995:48:23YTGFLT4:3:1412:42542:25536,LH00995:48:23YTGFLT4:3:1491:33360:11257,LH00995:48:23YTGFLT4:3:2203:32591:24302,LH00995:48:23YTGFLT4:3:2210:4293:12560,LH00995:48:23YTGFLT4:3:2241:8321:14578,LH00995:48:23YTGFLT4:3:2414:40957:7600,LH00995:48:23YTGFLT4:4:1265:10271:25970,LH00995:48:23YTGFLT4:4:2170:5417:3130,LH00995:48:23YTGFLT4:4:2237:4794:28842,LH00995:48:23YTGFLT4:4:2277:47655:13233,LH00995:48:23YTGFLT4:4:2314:28805:26853,LH00995:48:23YTGFLT4:4:2383:23628:26769,LH00995:48:23YTGFLT4:4:2421:44848:5232,LH00995:48:23YTGFLT4:4:2493:49904:11383,LH00995:48:23YTGFLT4:5:1107:1566:9604,LH00995:48:23YTGFLT4:5:1118:41782:8777,LH00995:48:23YTGFLT4:5:1125:10926:17352,LH00995:48:23YTGFLT4:5:1271:40067:2555,LH00995:48:23YTGFLT4:5:1326:51506:7067,LH00995:48:23YTGFLT4:5:1345:44848:27231,LH00995:48:23YTGFLT4:5:1373:19647:2107,LH00995:48:23YTGFLT4:5:1383:44233:23027,LH00995:48:23YTGFLT4:5:1389:31249:22257,LH00995:48:23YTGFLT4:5:1412:35957:14578,LH00995:48:23YTGFLT4:5:1442:21921:21878,LH00995:48:23YTGFLT4:5:2189:13669:12686,LH00995:48:23YTGFLT4:5:2226:20481:10865,LH00995:48:23YTGFLT4:5:2289:39589:19833,LH00995:48:23YTGFLT4:5:2324:25893:14886,LH00995:48:23YTGFLT4:5:2324:25893:14914,LH00995:48:23YTGFLT4:5:2324:25901:14900,LH00995:48:23YTGFLT4:5:2324:25901:14928,LH00995:48:23YTGFLT4:5:2324:25909:14886,LH00995:48:23YTGFLT4:5:2378:10781:7432,LH00995:48:23YTGFLT4:5:2403:13556:19917,LH00995:48:23YTGFLT4:5:2432:13798:7193,LH00995:48:23YTGFLT4:6:1398:5830:28926,LH00995:48:23YTGFLT4:6:2153:39201:25998,LH00995:48:23YTGFLT4:6:2218:22568:26362,LH00995:48:23YTGFLT4:6:2238:4786:15040,LH00995:48:23YTGFLT4:6:2383:32430:28226,LH00995:48:23YTGFLT4:6:2443:50665:2051,LH00995:48:23YTGFLT4:6:2463:17884:10795,LH00995:48:23YTGFLT4:6:2483:45042:2766,LH00995:48:23YTGFLT4:7:1166:39039:6128,LH00995:48:23YTGFLT4:7:1322:35269:25522,LH00995:48:23YTGFLT4:7:1441:46401:26110,LH00995:48:23YTGFLT4:7:2208:16962:10514,LH00995:48:23YTGFLT4:7:2219:43141:4069,LH00995:48:23YTGFLT4:7:2219:43157:4069,LH00995:48:23YTGFLT4:7:2223:48982:26460,LH00995:48:23YTGFLT4:7:2288:40851:3270,LH00995:48:23YTGFLT4:7:2356:30844:12504,LH00995:48:23YTGFLT4:8:1107:12455:21542,LH00995:48:23YTGFLT4:8:1140:41701:4097,LH00995:48:23YTGFLT4:8:1140:41717:4097,LH00995:48:23YTGFLT4:8:1145:11857:24120,LH00995:48:23YTGFLT4:8:1145:11865:24106,LH00995:48:23YTGFLT4:8:1230:10668:23013,LH00995:48:23YTGFLT4:8:1289:3006:8202,LH00995:48:23YTGFLT4:8:1388:23676:27357,LH00995:48:23YTGFLT4:8:2139:24979:25241,LH00995:48:23YTGFLT4:8:2436:22091:18165,LH00995:48:23YTGFLT4:8:2466:18175:28226,LH00995:48:23YTGFLT4:1:1127:15934:20813,LH00995:48:23YTGFLT4:1:1278:8410:20393,LH00995:48:23YTGFLT4:1:1306:7788:13149,LH00995:48:23YTGFLT4:1:1325:9017:1154,LH00995:48:23YTGFLT4:1:1365:18798:21626,LH00995:48:23YTGFLT4:1:2202:35423:9449,LH00995:48:23YTGFLT4:1:2267:20303:1925,LH00995:48:23YTGFLT4:1:2334:24065:20603,LH00995:48:23YTGFLT4:1:2495:30577:12266,LH00995:48:23YTGFLT4:1:2495:31046:9295,LH00995:48:23YTGFLT4:2:1214:51918:8398,LH00995:48:23YTGFLT4:2:1258:28644:21444,LH00995:48:23YTGFLT4:2:1267:26556:4153,LH00995:48:23YTGFLT4:2:1276:11250:25592,LH00995:48:23YTGFLT4:2:1348:30747:29431,LH00995:48:23YTGFLT4:2:1422:16428:1631,LH00995:48:23YTGFLT4:2:2405:19041:26586,LH00995:48:23YTGFLT4:3:1209:30334:16385,LH00995:48:23YTGFLT4:3:1294:48326:3578,LH00995:48:23YTGFLT4:3:1335:33069:5372,LH00995:48:23YTGFLT4:3:1369:20367:26839,LH00995:48:23YTGFLT4:3:1369:20376:26825,LH00995:48:23YTGFLT4:3:2130:5506:5190,LH00995:48:23YTGFLT4:3:2154:6760:18011,LH00995:48:23YTGFLT4:3:2170:6598:21570,LH00995:48:23YTGFLT4:3:2314:48060:16175,LH00995:48:23YTGFLT4:3:2354:9041:17114,LH00995:48:23YTGFLT4:3:2433:32268:1827,LH00995:48:23YTGFLT4:3:2470:3678:10430,LH00995:48:23YTGFLT4:3:2481:28328:5428,LH00995:48:23YTGFLT4:3:2487:10797:15251,LH00995:48:23YTGFLT4:4:1107:32567:19216,LH00995:48:23YTGFLT4:4:1157:33222:2724,LH00995:48:23YTGFLT4:4:1232:10829:6759,LH00995:48:23YTGFLT4:4:1260:2909:20673,LH00995:48:23YTGFLT4:4:1281:6582:23560,LH00995:48:23YTGFLT4:4:1293:16889:3074,LH00995:48:23YTGFLT4:4:2141:19979:21290,LH00995:48:23YTGFLT4:4:2177:25642:27848,LH00995:48:23YTGFLT4:4:2191:21354:10388,LH00995:48:23YTGFLT4:4:2271:17576:26572,LH00995:48:23YTGFLT4:4:2326:49767:27455,LH00995:48:23YTGFLT4:4:2415:51927:7207,LH00995:48:23YTGFLT4:4:2420:43683:11509,LH00995:48:23YTGFLT4:4:2467:29857:11972,LH00995:48:23YTGFLT4:5:1101:44945:1448,LH00995:48:23YTGFLT4:5:1127:42939:11229,LH00995:48:23YTGFLT4:5:1212:3743:6114,LH00995:48:23YTGFLT4:5:1302:12795:20393,LH00995:48:23YTGFLT4:5:1319:51376:26488,LH00995:48:23YTGFLT4:5:1351:15238:28856,LH00995:48:23YTGFLT4:5:2121:31103:27609,LH00995:48:23YTGFLT4:5:2127:15198:6815,LH00995:48:23YTGFLT4:5:2152:17528:9730,LH00995:48:23YTGFLT4:6:1188:12601:15853,LH00995:48:23YTGFLT4:6:1206:35277:4069,LH00995:48:23YTGFLT4:6:1207:15869:7950,LH00995:48:23YTGFLT4:6:1228:28085:1560,LH00995:48:23YTGFLT4:6:1251:38991:3354,LH00995:48:23YTGFLT4:6:1388:49702:18964,LH00995:48:23YTGFLT4:6:1495:21201:25395,LH00995:48:23YTGFLT4:6:2134:4115:24162,LH00995:48:23YTGFLT4:6:2157:24396:7418,LH00995:48:23YTGFLT4:6:2162:44128:19706,LH00995:48:23YTGFLT4:6:2349:21686:6311,LH00995:48:23YTGFLT4:6:2421:38335:10262,LH00995:48:23YTGFLT4:7:1105:14753:18067,LH00995:48:23YTGFLT4:7:1190:4034:25872,LH00995:48:23YTGFLT4:7:1196:32001:23083,LH00995:48:23YTGFLT4:7:1336:37203:11523,LH00995:48:23YTGFLT4:7:1442:30213:15391,LH00995:48:23YTGFLT4:7:1484:27430:1098,LH00995:48:23YTGFLT4:7:1484:27438:1112,LH00995:48:23YTGFLT4:7:2195:46061:24008,LH00995:48:23YTGFLT4:7:2285:46175:21766,LH00995:48:23YTGFLT4:7:2294:15570:9393,LH00995:48:23YTGFLT4:7:2332:18693:17549,LH00995:48:23YTGFLT4:7:2442:34962:5652,LH00995:48:23YTGFLT4:7:2492:4552:14886,LH00995:48:23YTGFLT4:8:1194:2569:17086,LH00995:48:23YTGFLT4:8:1397:40916:6437,LH00995:48:23YTGFLT4:8:1416:36661:23167,LH00995:48:23YTGFLT4:8:1422:23676:26236,LH00995:48:23YTGFLT4:8:2338:40123:13191,LH00995:48:23YTGFLT4:8:2353:27794:18403,LH00995:48:23YTGFLT4:8:2378:2537:14956,LH00995:48:23YTGFLT4:8:2393:48076:15699
PCDHGA6 PCDHGB7 +/+ +/+ chr5:141376507 chr5:141494807 CDS CDS/splice-site deletion/read-through 30 21 0 395 18228 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(142),low_entropy(1),mismappers(1) CACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW LH00995:48:23YTGFLT4:1:1119:13887:22032,LH00995:48:23YTGFLT4:1:1119:13895:22018,LH00995:48:23YTGFLT4:1:1119:13904:22032,LH00995:48:23YTGFLT4:1:1128:39428:3326,LH00995:48:23YTGFLT4:1:1173:50762:7656,LH00995:48:23YTGFLT4:1:1222:22649:7081,LH00995:48:23YTGFLT4:1:1222:22665:7081,LH00995:48:23YTGFLT4:1:1224:33740:21892,LH00995:48:23YTGFLT4:1:1224:33756:21892,LH00995:48:23YTGFLT4:1:1247:17940:16862,LH00995:48:23YTGFLT4:1:1247:17949:16848,LH00995:48:23YTGFLT4:1:1343:13507:27988,LH00995:48:23YTGFLT4:1:1423:46013:10444,LH00995:48:23YTGFLT4:1:1476:32252:4937,LH00995:48:23YTGFLT4:1:2116:49047:22004,LH00995:48:23YTGFLT4:1:2155:29663:17577,LH00995:48:23YTGFLT4:1:2198:30529:24176,LH00995:48:23YTGFLT4:1:2237:45349:21710,LH00995:48:23YTGFLT4:1:2252:15562:21402,LH00995:48:23YTGFLT4:1:2263:14340:19342,LH00995:48:23YTGFLT4:1:2343:13936:5778,LH00995:48:23YTGFLT4:1:2482:38165:14928,LH00995:48:23YTGFLT4:2:1180:28805:29039,LH00995:48:23YTGFLT4:2:1180:28813:29025,LH00995:48:23YTGFLT4:2:1278:46061:7586,LH00995:48:23YTGFLT4:2:1359:34064:4881,LH00995:48:23YTGFLT4:2:1387:29501:8749,LH00995:48:23YTGFLT4:2:2136:15263:26124,LH00995:48:23YTGFLT4:2:2255:34873:3929,LH00995:48:23YTGFLT4:2:2264:52105:2359,LH00995:48:23YTGFLT4:2:2402:4665:13177,LH00995:48:23YTGFLT4:2:2402:4673:13163,LH00995:48:23YTGFLT4:2:2402:4681:13177,LH00995:48:23YTGFLT4:2:2442:47760:18655,LH00995:48:23YTGFLT4:2:2448:35261:21164,LH00995:48:23YTGFLT4:3:1120:4552:29263,LH00995:48:23YTGFLT4:3:1144:22981:14718,LH00995:48:23YTGFLT4:3:1152:21371:6241,LH00995:48:23YTGFLT4:3:1255:10805:28156,LH00995:48:23YTGFLT4:3:1314:30917:27707,LH00995:48:23YTGFLT4:3:1314:30925:27693,LH00995:48:23YTGFLT4:3:1345:16808:15068,LH00995:48:23YTGFLT4:3:1352:26775:2401,LH00995:48:23YTGFLT4:3:1352:26783:2387,LH00995:48:23YTGFLT4:3:1412:42542:25536,LH00995:48:23YTGFLT4:3:1491:33360:11257,LH00995:48:23YTGFLT4:3:2203:32591:24302,LH00995:48:23YTGFLT4:3:2210:4293:12560,LH00995:48:23YTGFLT4:3:2241:8321:14578,LH00995:48:23YTGFLT4:3:2414:40957:7600,LH00995:48:23YTGFLT4:4:1265:10271:25970,LH00995:48:23YTGFLT4:4:2170:5417:3130,LH00995:48:23YTGFLT4:4:2237:4794:28842,LH00995:48:23YTGFLT4:4:2277:47655:13233,LH00995:48:23YTGFLT4:4:2314:28805:26853,LH00995:48:23YTGFLT4:4:2383:23628:26769,LH00995:48:23YTGFLT4:4:2421:44848:5232,LH00995:48:23YTGFLT4:4:2493:49904:11383,LH00995:48:23YTGFLT4:5:1107:1566:9604,LH00995:48:23YTGFLT4:5:1118:41782:8777,LH00995:48:23YTGFLT4:5:1125:10926:17352,LH00995:48:23YTGFLT4:5:1271:40067:2555,LH00995:48:23YTGFLT4:5:1326:51506:7067,LH00995:48:23YTGFLT4:5:1345:44848:27231,LH00995:48:23YTGFLT4:5:1373:19647:2107,LH00995:48:23YTGFLT4:5:1383:44233:23027,LH00995:48:23YTGFLT4:5:1389:31249:22257,LH00995:48:23YTGFLT4:5:1412:35957:14578,LH00995:48:23YTGFLT4:5:1442:21921:21878,LH00995:48:23YTGFLT4:5:2189:13669:12686,LH00995:48:23YTGFLT4:5:2226:20481:10865,LH00995:48:23YTGFLT4:5:2289:39589:19833,LH00995:48:23YTGFLT4:5:2324:25893:14886,LH00995:48:23YTGFLT4:5:2324:25893:14914,LH00995:48:23YTGFLT4:5:2324:25901:14900,LH00995:48:23YTGFLT4:5:2324:25901:14928,LH00995:48:23YTGFLT4:5:2324:25909:14886,LH00995:48:23YTGFLT4:5:2378:10781:7432,LH00995:48:23YTGFLT4:5:2403:13556:19917,LH00995:48:23YTGFLT4:5:2432:13798:7193,LH00995:48:23YTGFLT4:6:1398:5830:28926,LH00995:48:23YTGFLT4:6:2153:39201:25998,LH00995:48:23YTGFLT4:6:2218:22568:26362,LH00995:48:23YTGFLT4:6:2238:4786:15040,LH00995:48:23YTGFLT4:6:2383:32430:28226,LH00995:48:23YTGFLT4:6:2443:50665:2051,LH00995:48:23YTGFLT4:6:2463:17884:10795,LH00995:48:23YTGFLT4:6:2483:45042:2766,LH00995:48:23YTGFLT4:7:1166:39039:6128,LH00995:48:23YTGFLT4:7:1322:35269:25522,LH00995:48:23YTGFLT4:7:1441:46401:26110,LH00995:48:23YTGFLT4:7:2208:16962:10514,LH00995:48:23YTGFLT4:7:2219:43141:4069,LH00995:48:23YTGFLT4:7:2219:43157:4069,LH00995:48:23YTGFLT4:7:2223:48982:26460,LH00995:48:23YTGFLT4:7:2288:40851:3270,LH00995:48:23YTGFLT4:7:2356:30844:12504,LH00995:48:23YTGFLT4:8:1107:12455:21542,LH00995:48:23YTGFLT4:8:1140:41701:4097,LH00995:48:23YTGFLT4:8:1140:41717:4097,LH00995:48:23YTGFLT4:8:1145:11857:24120,LH00995:48:23YTGFLT4:8:1145:11865:24106,LH00995:48:23YTGFLT4:8:1230:10668:23013,LH00995:48:23YTGFLT4:8:1289:3006:8202,LH00995:48:23YTGFLT4:8:1388:23676:27357,LH00995:48:23YTGFLT4:8:2139:24979:25241,LH00995:48:23YTGFLT4:8:2436:22091:18165,LH00995:48:23YTGFLT4:8:2466:18175:28226,LH00995:48:23YTGFLT4:1:1127:15934:20813,LH00995:48:23YTGFLT4:1:1278:8410:20393,LH00995:48:23YTGFLT4:1:1306:7788:13149,LH00995:48:23YTGFLT4:1:1325:9017:1154,LH00995:48:23YTGFLT4:1:1365:18798:21626,LH00995:48:23YTGFLT4:1:2202:35423:9449,LH00995:48:23YTGFLT4:1:2267:20303:1925,LH00995:48:23YTGFLT4:1:2334:24065:20603,LH00995:48:23YTGFLT4:1:2495:30577:12266,LH00995:48:23YTGFLT4:1:2495:31046:9295,LH00995:48:23YTGFLT4:2:1214:51918:8398,LH00995:48:23YTGFLT4:2:1258:28644:21444,LH00995:48:23YTGFLT4:2:1267:26556:4153,LH00995:48:23YTGFLT4:2:1276:11250:25592,LH00995:48:23YTGFLT4:2:1348:30747:29431,LH00995:48:23YTGFLT4:2:1422:16428:1631,LH00995:48:23YTGFLT4:2:2405:19041:26586,LH00995:48:23YTGFLT4:3:1209:30334:16385,LH00995:48:23YTGFLT4:3:1294:48326:3578,LH00995:48:23YTGFLT4:3:1335:33069:5372,LH00995:48:23YTGFLT4:3:1369:20367:26839,LH00995:48:23YTGFLT4:3:1369:20376:26825,LH00995:48:23YTGFLT4:3:2130:5506:5190,LH00995:48:23YTGFLT4:3:2154:6760:18011,LH00995:48:23YTGFLT4:3:2170:6598:21570,LH00995:48:23YTGFLT4:3:2314:48060:16175,LH00995:48:23YTGFLT4:3:2354:9041:17114,LH00995:48:23YTGFLT4:3:2433:32268:1827,LH00995:48:23YTGFLT4:3:2470:3678:10430,LH00995:48:23YTGFLT4:3:2481:28328:5428,LH00995:48:23YTGFLT4:3:2487:10797:15251,LH00995:48:23YTGFLT4:4:1107:32567:19216,LH00995:48:23YTGFLT4:4:1157:33222:2724,LH00995:48:23YTGFLT4:4:1232:10829:6759,LH00995:48:23YTGFLT4:4:1260:2909:20673,LH00995:48:23YTGFLT4:4:1281:6582:23560,LH00995:48:23YTGFLT4:4:1293:16889:3074,LH00995:48:23YTGFLT4:4:2141:19979:21290,LH00995:48:23YTGFLT4:4:2177:25642:27848,LH00995:48:23YTGFLT4:4:2191:21354:10388,LH00995:48:23YTGFLT4:4:2271:17576:26572,LH00995:48:23YTGFLT4:4:2326:49767:27455,LH00995:48:23YTGFLT4:4:2415:51927:7207,LH00995:48:23YTGFLT4:4:2420:43683:11509,LH00995:48:23YTGFLT4:4:2467:29857:11972,LH00995:48:23YTGFLT4:5:1101:44945:1448,LH00995:48:23YTGFLT4:5:1127:42939:11229,LH00995:48:23YTGFLT4:5:1212:3743:6114,LH00995:48:23YTGFLT4:5:1302:12795:20393,LH00995:48:23YTGFLT4:5:1319:51376:26488,LH00995:48:23YTGFLT4:5:1351:15238:28856,LH00995:48:23YTGFLT4:5:2121:31103:27609,LH00995:48:23YTGFLT4:5:2127:15198:6815,LH00995:48:23YTGFLT4:5:2152:17528:9730,LH00995:48:23YTGFLT4:6:1188:12601:15853,LH00995:48:23YTGFLT4:6:1206:35277:4069,LH00995:48:23YTGFLT4:6:1207:15869:7950,LH00995:48:23YTGFLT4:6:1228:28085:1560,LH00995:48:23YTGFLT4:6:1251:38991:3354,LH00995:48:23YTGFLT4:6:1388:49702:18964,LH00995:48:23YTGFLT4:6:1495:21201:25395,LH00995:48:23YTGFLT4:6:2134:4115:24162,LH00995:48:23YTGFLT4:6:2157:24396:7418,LH00995:48:23YTGFLT4:6:2162:44128:19706,LH00995:48:23YTGFLT4:6:2349:21686:6311,LH00995:48:23YTGFLT4:6:2421:38335:10262,LH00995:48:23YTGFLT4:7:1105:14753:18067,LH00995:48:23YTGFLT4:7:1190:4034:25872,LH00995:48:23YTGFLT4:7:1196:32001:23083,LH00995:48:23YTGFLT4:7:1336:37203:11523,LH00995:48:23YTGFLT4:7:1442:30213:15391,LH00995:48:23YTGFLT4:7:1484:27430:1098,LH00995:48:23YTGFLT4:7:1484:27438:1112,LH00995:48:23YTGFLT4:7:2195:46061:24008,LH00995:48:23YTGFLT4:7:2285:46175:21766,LH00995:48:23YTGFLT4:7:2294:15570:9393,LH00995:48:23YTGFLT4:7:2332:18693:17549,LH00995:48:23YTGFLT4:7:2442:34962:5652,LH00995:48:23YTGFLT4:7:2492:4552:14886,LH00995:48:23YTGFLT4:8:1194:2569:17086,LH00995:48:23YTGFLT4:8:1397:40916:6437,LH00995:48:23YTGFLT4:8:1416:36661:23167,LH00995:48:23YTGFLT4:8:1422:23676:26236,LH00995:48:23YTGFLT4:8:2338:40123:13191,LH00995:48:23YTGFLT4:8:2353:27794:18403,LH00995:48:23YTGFLT4:8:2378:2537:14956,LH00995:48:23YTGFLT4:8:2393:48076:15699
PCDHGA6 PCDHGA12 +/+ +/+ chr5:141376507 chr5:141494807 CDS CDS/splice-site deletion/read-through 30 21 0 395 18228 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(142),low_entropy(1),mismappers(1) CACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW LH00995:48:23YTGFLT4:1:1119:13887:22032,LH00995:48:23YTGFLT4:1:1119:13895:22018,LH00995:48:23YTGFLT4:1:1119:13904:22032,LH00995:48:23YTGFLT4:1:1128:39428:3326,LH00995:48:23YTGFLT4:1:1173:50762:7656,LH00995:48:23YTGFLT4:1:1222:22649:7081,LH00995:48:23YTGFLT4:1:1222:22665:7081,LH00995:48:23YTGFLT4:1:1224:33740:21892,LH00995:48:23YTGFLT4:1:1224:33756:21892,LH00995:48:23YTGFLT4:1:1247:17940:16862,LH00995:48:23YTGFLT4:1:1247:17949:16848,LH00995:48:23YTGFLT4:1:1343:13507:27988,LH00995:48:23YTGFLT4:1:1423:46013:10444,LH00995:48:23YTGFLT4:1:1476:32252:4937,LH00995:48:23YTGFLT4:1:2116:49047:22004,LH00995:48:23YTGFLT4:1:2155:29663:17577,LH00995:48:23YTGFLT4:1:2198:30529:24176,LH00995:48:23YTGFLT4:1:2237:45349:21710,LH00995:48:23YTGFLT4:1:2252:15562:21402,LH00995:48:23YTGFLT4:1:2263:14340:19342,LH00995:48:23YTGFLT4:1:2343:13936:5778,LH00995:48:23YTGFLT4:1:2482:38165:14928,LH00995:48:23YTGFLT4:2:1180:28805:29039,LH00995:48:23YTGFLT4:2:1180:28813:29025,LH00995:48:23YTGFLT4:2:1278:46061:7586,LH00995:48:23YTGFLT4:2:1359:34064:4881,LH00995:48:23YTGFLT4:2:1387:29501:8749,LH00995:48:23YTGFLT4:2:2136:15263:26124,LH00995:48:23YTGFLT4:2:2255:34873:3929,LH00995:48:23YTGFLT4:2:2264:52105:2359,LH00995:48:23YTGFLT4:2:2402:4665:13177,LH00995:48:23YTGFLT4:2:2402:4673:13163,LH00995:48:23YTGFLT4:2:2402:4681:13177,LH00995:48:23YTGFLT4:2:2442:47760:18655,LH00995:48:23YTGFLT4:2:2448:35261:21164,LH00995:48:23YTGFLT4:3:1120:4552:29263,LH00995:48:23YTGFLT4:3:1144:22981:14718,LH00995:48:23YTGFLT4:3:1152:21371:6241,LH00995:48:23YTGFLT4:3:1255:10805:28156,LH00995:48:23YTGFLT4:3:1314:30917:27707,LH00995:48:23YTGFLT4:3:1314:30925:27693,LH00995:48:23YTGFLT4:3:1345:16808:15068,LH00995:48:23YTGFLT4:3:1352:26775:2401,LH00995:48:23YTGFLT4:3:1352:26783:2387,LH00995:48:23YTGFLT4:3:1412:42542:25536,LH00995:48:23YTGFLT4:3:1491:33360:11257,LH00995:48:23YTGFLT4:3:2203:32591:24302,LH00995:48:23YTGFLT4:3:2210:4293:12560,LH00995:48:23YTGFLT4:3:2241:8321:14578,LH00995:48:23YTGFLT4:3:2414:40957:7600,LH00995:48:23YTGFLT4:4:1265:10271:25970,LH00995:48:23YTGFLT4:4:2170:5417:3130,LH00995:48:23YTGFLT4:4:2237:4794:28842,LH00995:48:23YTGFLT4:4:2277:47655:13233,LH00995:48:23YTGFLT4:4:2314:28805:26853,LH00995:48:23YTGFLT4:4:2383:23628:26769,LH00995:48:23YTGFLT4:4:2421:44848:5232,LH00995:48:23YTGFLT4:4:2493:49904:11383,LH00995:48:23YTGFLT4:5:1107:1566:9604,LH00995:48:23YTGFLT4:5:1118:41782:8777,LH00995:48:23YTGFLT4:5:1125:10926:17352,LH00995:48:23YTGFLT4:5:1271:40067:2555,LH00995:48:23YTGFLT4:5:1326:51506:7067,LH00995:48:23YTGFLT4:5:1345:44848:27231,LH00995:48:23YTGFLT4:5:1373:19647:2107,LH00995:48:23YTGFLT4:5:1383:44233:23027,LH00995:48:23YTGFLT4:5:1389:31249:22257,LH00995:48:23YTGFLT4:5:1412:35957:14578,LH00995:48:23YTGFLT4:5:1442:21921:21878,LH00995:48:23YTGFLT4:5:2189:13669:12686,LH00995:48:23YTGFLT4:5:2226:20481:10865,LH00995:48:23YTGFLT4:5:2289:39589:19833,LH00995:48:23YTGFLT4:5:2324:25893:14886,LH00995:48:23YTGFLT4:5:2324:25893:14914,LH00995:48:23YTGFLT4:5:2324:25901:14900,LH00995:48:23YTGFLT4:5:2324:25901:14928,LH00995:48:23YTGFLT4:5:2324:25909:14886,LH00995:48:23YTGFLT4:5:2378:10781:7432,LH00995:48:23YTGFLT4:5:2403:13556:19917,LH00995:48:23YTGFLT4:5:2432:13798:7193,LH00995:48:23YTGFLT4:6:1398:5830:28926,LH00995:48:23YTGFLT4:6:2153:39201:25998,LH00995:48:23YTGFLT4:6:2218:22568:26362,LH00995:48:23YTGFLT4:6:2238:4786:15040,LH00995:48:23YTGFLT4:6:2383:32430:28226,LH00995:48:23YTGFLT4:6:2443:50665:2051,LH00995:48:23YTGFLT4:6:2463:17884:10795,LH00995:48:23YTGFLT4:6:2483:45042:2766,LH00995:48:23YTGFLT4:7:1166:39039:6128,LH00995:48:23YTGFLT4:7:1322:35269:25522,LH00995:48:23YTGFLT4:7:1441:46401:26110,LH00995:48:23YTGFLT4:7:2208:16962:10514,LH00995:48:23YTGFLT4:7:2219:43141:4069,LH00995:48:23YTGFLT4:7:2219:43157:4069,LH00995:48:23YTGFLT4:7:2223:48982:26460,LH00995:48:23YTGFLT4:7:2288:40851:3270,LH00995:48:23YTGFLT4:7:2356:30844:12504,LH00995:48:23YTGFLT4:8:1107:12455:21542,LH00995:48:23YTGFLT4:8:1140:41701:4097,LH00995:48:23YTGFLT4:8:1140:41717:4097,LH00995:48:23YTGFLT4:8:1145:11857:24120,LH00995:48:23YTGFLT4:8:1145:11865:24106,LH00995:48:23YTGFLT4:8:1230:10668:23013,LH00995:48:23YTGFLT4:8:1289:3006:8202,LH00995:48:23YTGFLT4:8:1388:23676:27357,LH00995:48:23YTGFLT4:8:2139:24979:25241,LH00995:48:23YTGFLT4:8:2436:22091:18165,LH00995:48:23YTGFLT4:8:2466:18175:28226,LH00995:48:23YTGFLT4:1:1127:15934:20813,LH00995:48:23YTGFLT4:1:1278:8410:20393,LH00995:48:23YTGFLT4:1:1306:7788:13149,LH00995:48:23YTGFLT4:1:1325:9017:1154,LH00995:48:23YTGFLT4:1:1365:18798:21626,LH00995:48:23YTGFLT4:1:2202:35423:9449,LH00995:48:23YTGFLT4:1:2267:20303:1925,LH00995:48:23YTGFLT4:1:2334:24065:20603,LH00995:48:23YTGFLT4:1:2495:30577:12266,LH00995:48:23YTGFLT4:1:2495:31046:9295,LH00995:48:23YTGFLT4:2:1214:51918:8398,LH00995:48:23YTGFLT4:2:1258:28644:21444,LH00995:48:23YTGFLT4:2:1267:26556:4153,LH00995:48:23YTGFLT4:2:1276:11250:25592,LH00995:48:23YTGFLT4:2:1348:30747:29431,LH00995:48:23YTGFLT4:2:1422:16428:1631,LH00995:48:23YTGFLT4:2:2405:19041:26586,LH00995:48:23YTGFLT4:3:1209:30334:16385,LH00995:48:23YTGFLT4:3:1294:48326:3578,LH00995:48:23YTGFLT4:3:1335:33069:5372,LH00995:48:23YTGFLT4:3:1369:20367:26839,LH00995:48:23YTGFLT4:3:1369:20376:26825,LH00995:48:23YTGFLT4:3:2130:5506:5190,LH00995:48:23YTGFLT4:3:2154:6760:18011,LH00995:48:23YTGFLT4:3:2170:6598:21570,LH00995:48:23YTGFLT4:3:2314:48060:16175,LH00995:48:23YTGFLT4:3:2354:9041:17114,LH00995:48:23YTGFLT4:3:2433:32268:1827,LH00995:48:23YTGFLT4:3:2470:3678:10430,LH00995:48:23YTGFLT4:3:2481:28328:5428,LH00995:48:23YTGFLT4:3:2487:10797:15251,LH00995:48:23YTGFLT4:4:1107:32567:19216,LH00995:48:23YTGFLT4:4:1157:33222:2724,LH00995:48:23YTGFLT4:4:1232:10829:6759,LH00995:48:23YTGFLT4:4:1260:2909:20673,LH00995:48:23YTGFLT4:4:1281:6582:23560,LH00995:48:23YTGFLT4:4:1293:16889:3074,LH00995:48:23YTGFLT4:4:2141:19979:21290,LH00995:48:23YTGFLT4:4:2177:25642:27848,LH00995:48:23YTGFLT4:4:2191:21354:10388,LH00995:48:23YTGFLT4:4:2271:17576:26572,LH00995:48:23YTGFLT4:4:2326:49767:27455,LH00995:48:23YTGFLT4:4:2415:51927:7207,LH00995:48:23YTGFLT4:4:2420:43683:11509,LH00995:48:23YTGFLT4:4:2467:29857:11972,LH00995:48:23YTGFLT4:5:1101:44945:1448,LH00995:48:23YTGFLT4:5:1127:42939:11229,LH00995:48:23YTGFLT4:5:1212:3743:6114,LH00995:48:23YTGFLT4:5:1302:12795:20393,LH00995:48:23YTGFLT4:5:1319:51376:26488,LH00995:48:23YTGFLT4:5:1351:15238:28856,LH00995:48:23YTGFLT4:5:2121:31103:27609,LH00995:48:23YTGFLT4:5:2127:15198:6815,LH00995:48:23YTGFLT4:5:2152:17528:9730,LH00995:48:23YTGFLT4:6:1188:12601:15853,LH00995:48:23YTGFLT4:6:1206:35277:4069,LH00995:48:23YTGFLT4:6:1207:15869:7950,LH00995:48:23YTGFLT4:6:1228:28085:1560,LH00995:48:23YTGFLT4:6:1251:38991:3354,LH00995:48:23YTGFLT4:6:1388:49702:18964,LH00995:48:23YTGFLT4:6:1495:21201:25395,LH00995:48:23YTGFLT4:6:2134:4115:24162,LH00995:48:23YTGFLT4:6:2157:24396:7418,LH00995:48:23YTGFLT4:6:2162:44128:19706,LH00995:48:23YTGFLT4:6:2349:21686:6311,LH00995:48:23YTGFLT4:6:2421:38335:10262,LH00995:48:23YTGFLT4:7:1105:14753:18067,LH00995:48:23YTGFLT4:7:1190:4034:25872,LH00995:48:23YTGFLT4:7:1196:32001:23083,LH00995:48:23YTGFLT4:7:1336:37203:11523,LH00995:48:23YTGFLT4:7:1442:30213:15391,LH00995:48:23YTGFLT4:7:1484:27430:1098,LH00995:48:23YTGFLT4:7:1484:27438:1112,LH00995:48:23YTGFLT4:7:2195:46061:24008,LH00995:48:23YTGFLT4:7:2285:46175:21766,LH00995:48:23YTGFLT4:7:2294:15570:9393,LH00995:48:23YTGFLT4:7:2332:18693:17549,LH00995:48:23YTGFLT4:7:2442:34962:5652,LH00995:48:23YTGFLT4:7:2492:4552:14886,LH00995:48:23YTGFLT4:8:1194:2569:17086,LH00995:48:23YTGFLT4:8:1397:40916:6437,LH00995:48:23YTGFLT4:8:1416:36661:23167,LH00995:48:23YTGFLT4:8:1422:23676:26236,LH00995:48:23YTGFLT4:8:2338:40123:13191,LH00995:48:23YTGFLT4:8:2353:27794:18403,LH00995:48:23YTGFLT4:8:2378:2537:14956,LH00995:48:23YTGFLT4:8:2393:48076:15699
PCDHGA6 PCDHGC3 +/+ +/+ chr5:141376507 chr5:141494807 CDS CDS/splice-site deletion/read-through 30 21 0 395 18228 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(142),low_entropy(1),mismappers(1) CACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC HEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW 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GFLT4:3:1294:48326:3578,LH00995:48:23YTGFLT4:3:1335:33069:5372,LH00995:48:23YTGFLT4:3:1369:20367:26839,LH00995:48:23YTGFLT4:3:1369:20376:26825,LH00995:48:23YTGFLT4:3:2130:5506:5190,LH00995:48:23YTGFLT4:3:2154:6760:18011,LH00995:48:23YTGFLT4:3:2170:6598:21570,LH00995:48:23YTGFLT4:3:2314:48060:16175,LH00995:48:23YTGFLT4:3:2354:9041:17114,LH00995:48:23YTGFLT4:3:2433:32268:1827,LH00995:48:23YTGFLT4:3:2470:3678:10430,LH00995:48:23YTGFLT4:3:2481:28328:5428,LH00995:48:23YTGFLT4:3:2487:10797:15251,LH00995:48:23YTGFLT4:4:1107:32567:19216,LH00995:48:23YTGFLT4:4:1157:33222:2724,LH00995:48:23YTGFLT4:4:1232:10829:6759,LH00995:48:23YTGFLT4:4:1260:2909:20673,LH00995:48:23YTGFLT4:4:1281:6582:23560,LH00995:48:23YTGFLT4:4:1293:16889:3074,LH00995:48:23YTGFLT4:4:2141:19979:21290,LH00995:48:23YTGFLT4:4:2177:25642:27848,LH00995:48:23YTGFLT4:4:2191:21354:10388,LH00995:48:23YTGFLT4:4:2271:17576:26572,LH00995:48:23YTGFLT4:4:2326:49767:27455,LH00995:48:23YTGFLT4:4:2415:51927:7207,LH00995:48:23YTGFLT4:4:2420:43683:11509,LH00995:48:23YTGFLT4:4:2467:29857:11972,LH00995:48:23YTGFLT4:5:1101:44945:1448,LH00995:48:23YTGFLT4:5:1127:42939:11229,LH00995:48:23YTGFLT4:5:1212:3743:6114,LH00995:48:23YTGFLT4:5:1302:12795:20393,LH00995:48:23YTGFLT4:5:1319:51376:26488,LH00995:48:23YTGFLT4:5:1351:15238:28856,LH00995:48:23YTGFLT4:5:2121:31103:27609,LH00995:48:23YTGFLT4:5:2127:15198:6815,LH00995:48:23YTGFLT4:5:2152:17528:9730,LH00995:48:23YTGFLT4:6:1188:12601:15853,LH00995:48:23YTGFLT4:6:1206:35277:4069,LH00995:48:23YTGFLT4:6:1207:15869:7950,LH00995:48:23YTGFLT4:6:1228:28085:1560,LH00995:48:23YTGFLT4:6:1251:38991:3354,LH00995:48:23YTGFLT4:6:1388:49702:18964,LH00995:48:23YTGFLT4:6:1495:21201:25395,LH00995:48:23YTGFLT4:6:2134:4115:24162,LH00995:48:23YTGFLT4:6:2157:24396:7418,LH00995:48:23YTGFLT4:6:2162:44128:19706,LH00995:48:23YTGFLT4:6:2349:21686:6311,LH00995:48:23YTGFLT4:6:2421:38335:10262,LH00995:48:23YTGFLT4:7:1105:14753:18067,LH00995:48:23YTGFLT4:7:1190:4034:25872,LH00995:48:23YTGFLT4:7:1196:32001:23083,LH00995:48:23YTGFLT4:7:1336:37203:11523,LH00995:48:23YTGFLT4:7:1442:30213:15391,LH00995:48:23YTGFLT4:7:1484:27430:1098,LH00995:48:23YTGFLT4:7:1484:27438:1112,LH00995:48:23YTGFLT4:7:2195:46061:24008,LH00995:48:23YTGFLT4:7:2285:46175:21766,LH00995:48:23YTGFLT4:7:2294:15570:9393,LH00995:48:23YTGFLT4:7:2332:18693:17549,LH00995:48:23YTGFLT4:7:2442:34962:5652,LH00995:48:23YTGFLT4:7:2492:4552:14886,LH00995:48:23YTGFLT4:8:1194:2569:17086,LH00995:48:23YTGFLT4:8:1397:40916:6437,LH00995:48:23YTGFLT4:8:1416:36661:23167,LH00995:48:23YTGFLT4:8:1422:23676:26236,LH00995:48:23YTGFLT4:8:2338:40123:13191,LH00995:48:23YTGFLT4:8:2353:27794:18403,LH00995:48:23YTGFLT4:8:2378:2537:14956,LH00995:48:23YTGFLT4:8:2393:48076:15699
NPIPA3 NPIPA3 +/+ +/+ chr16:14726287 chr16:14726229 CDS CDS duplication/ITD 41 1 0 877 944 medium out-of-frame . Nuclear_pore_complex_interacting_protein_(NPIP)(100%)| . . ENSG00000224712.12 ENSG00000224712.12 ENST00000531598.6 ENST00000531598.6 downstream upstream duplicates(244) TGCGGAGTGTCTGCTCTATCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGTGGATGATAATCTCAAGACACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGA|CACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCG AECLLYPLPPSADDNLKTPPECLLTPLPPSAPPSVDDNLKTPPeCVCSLPFHPQRMIISR|hlpsvsahspstls 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PCDHGB2 PCDHGA8 +/+ +/+ chr5:141362556 chr5:141494807 CDS CDS/splice-site deletion/read-through 26 14 0 274 18228 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(109) GCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN LH00995:48:23YTGFLT4:1:1236:10522:23350,LH00995:48:23YTGFLT4:1:1360:5045:29025,LH00995:48:23YTGFLT4:1:1364:13540:22579,LH00995:48:23YTGFLT4:1:1370:18879:23588,LH00995:48:23YTGFLT4:1:1406:43553:11817,LH00995:48:23YTGFLT4:1:1466:26815:24387,LH00995:48:23YTGFLT4:1:2130:42672:5694,LH00995:48:23YTGFLT4:1:2235:36547:7502,LH00995:48:23YTGFLT4:1:2235:36564:7502,LH00995:48:23YTGFLT4:1:2250:27729:25774,LH00995:48:23YTGFLT4:1:2286:37680:13359,LH00995:48:23YTGFLT4:1:2295:29097:20855,LH00995:48:23YTGFLT4:1:2426:10967:26783,LH00995:48:23YTGFLT4:1:2460:44435:12196,LH00995:48:23YTGFLT4:2:1169:3257:17296,LH00995:48:23YTGFLT4:2:1169:49815:1869,LH00995:48:23YTGFLT4:2:1178:36790:14564,LH00995:48:23YTGFLT4:2:1193:14802:1448,LH00995:48:23YTGFLT4:2:1291:16638:29263,LH00995:48:23YTGFLT4:2:1482:43173:18726,LH00995:48:23YTGFLT4:2:2215:11282:8244,LH00995:48:23YTGFLT4:2:2268:40746:2387,LH00995:48:23YTGFLT4:2:2396:6574:11972,LH00995:48:23YTGFLT4:3:1237:28174:12981,LH00995:48:23YTGFLT4:3:1337:50163:2920,LH00995:48:23YTGFLT4:3:1380:16274:21262,LH00995:48:23YTGFLT4:3:2201:26168:22789,LH00995:48:23YTGFLT4:3:2289:44071:1560,LH00995:48:23YTGFLT4:3:2384:24801:16021,LH00995:48:23YTGFLT4:3:2384:26718:23546,LH00995:48:23YTGFLT4:4:1120:2683:24737,LH00995:48:23YTGFLT4:4:1130:25869:12378,LH00995:48:23YTGFLT4:4:1134:27907:16273,LH00995:48:23YTGFLT4:4:1134:30682:20827,LH00995:48:23YTGFLT4:4:1146:51360:24863,LH00995:48:23YTGFLT4:4:1247:48812:10416,LH00995:48:23YTGFLT4:4:1272:39379:28604,LH00995:48:23YTGFLT4:4:1413:11339:18011,LH00995:48:23YTGFLT4:4:2125:17277:7866,LH00995:48:23YTGFLT4:4:2145:50033:3648,LH00995:48:23YTGFLT4:4:2152:28417:18249,LH00995:48:23YTGFLT4:4:2168:42445:1546,LH00995:48:23YTGFLT4:4:2238:9203:9211,LH00995:48:23YTGFLT4:4:2238:9211:9225,LH00995:48:23YTGFLT4:4:2255:3678:1603,LH00995:48:23YTGFLT4:5:1106:36070:14045,LH00995:48:23YTGFLT4:5:1283:1138:11747,LH00995:48:23YTGFLT4:5:1459:10684:11775,LH00995:48:23YTGFLT4:5:2320:29841:1070,LH00995:48:23YTGFLT4:5:2411:33271:14802,LH00995:48:23YTGFLT4:5:2433:14567:24975,LH00995:48:23YTGFLT4:5:2478:8135:6997,LH00995:48:23YTGFLT4:5:2487:48982:14606,LH00995:48:23YTGFLT4:6:1147:16638:7067,LH00995:48:23YTGFLT4:6:1289:18256:4265,LH00995:48:23YTGFLT4:6:1301:4988:11075,LH00995:48:23YTGFLT4:6:1497:27899:22032,LH00995:48:23YTGFLT4:6:1497:27907:22018,LH00995:48:23YTGFLT4:6:2161:5603:29627,LH00995:48:23YTGFLT4:6:2175:25650:7263,LH00995:48:23YTGFLT4:6:2242:4535:15279,LH00995:48:23YTGFLT4:6:2345:3387:14998,LH00995:48:23YTGFLT4:6:2349:27082:1476,LH00995:48:23YTGFLT4:6:2356:15166:29011,LH00995:48:23YTGFLT4:6:2369:44281:4559,LH00995:48:23YTGFLT4:7:1269:36539:14494,LH00995:48:23YTGFLT4:7:1312:11922:9099,LH00995:48:23YTGFLT4:7:1368:25650:6535,LH00995:48:23YTGFLT4:7:1441:19963:18403,LH00995:48:23YTGFLT4:7:1468:47121:25507,LH00995:48:23YTGFLT4:7:2212:48326:15881,LH00995:48:23YTGFLT4:7:2257:13750:25157,LH00995:48:23YTGFLT4:7:2285:48440:3522,LH00995:48:23YTGFLT4:7:2367:29590:25774,LH00995:48:23YTGFLT4:7:2443:40123:5260,LH00995:48:23YTGFLT4:8:1121:46709:20225,LH00995:48:23YTGFLT4:8:1173:7804:18950,LH00995:48:23YTGFLT4:8:1229:22277:16189,LH00995:48:23YTGFLT4:8:1432:4268:18992,LH00995:48:23YTGFLT4:8:2165:34436:10066,LH00995:48:23YTGFLT4:8:2326:52024:28898,LH00995:48:23YTGFLT4:8:2327:1582:19048,LH00995:48:23YTGFLT4:8:2336:35091:6381,LH00995:48:23YTGFLT4:8:2444:12245:19748,LH00995:48:23YTGFLT4:8:2456:40431:19412,LH00995:48:23YTGFLT4:1:1240:29914:8679,LH00995:48:23YTGFLT4:1:1257:10983:12518,LH00995:48:23YTGFLT4:1:1257:10991:12532,LH00995:48:23YTGFLT4:1:1280:22875:16526,LH00995:48:23YTGFLT4:1:1328:10142:29249,LH00995:48:23YTGFLT4:1:1438:43384:16932,LH00995:48:23YTGFLT4:1:2107:21799:23097,LH00995:48:23YTGFLT4:2:1113:30334:13639,LH00995:48:23YTGFLT4:2:1228:26831:1771,LH00995:48:23YTGFLT4:2:1249:15093:27091,LH00995:48:23YTGFLT4:2:1318:51635:21836,LH00995:48:23YTGFLT4:2:1318:51643:21822,LH00995:48:23YTGFLT4:2:1343:34994:25465,LH00995:48:23YTGFLT4:2:1403:40172:9519,LH00995:48:23YTGFLT4:2:2328:40212:7348,LH00995:48:23YTGFLT4:2:2478:37316:3480,LH00995:48:23YTGFLT4:3:1101:27074:20883,LH00995:48:23YTGFLT4:3:1183:39824:9365,LH00995:48:23YTGFLT4:3:1224:29849:18599,LH00995:48:23YTGFLT4:3:1284:22851:20323,LH00995:48:23YTGFLT4:3:1307:20804:21934,LH00995:48:23YTGFLT4:3:1307:20812:21948,LH00995:48:23YTGFLT4:3:1341:34929:16918,LH00995:48:23YTGFLT4:3:2103:4996:25942,LH00995:48:23YTGFLT4:3:2481:8605:13611,LH00995:48:23YTGFLT4:4:1114:32527:4125,LH00995:48:23YTGFLT4:4:1142:39428:28660,LH00995:48:23YTGFLT4:4:1145:1995:25283,LH00995:48:23YTGFLT4:4:1145:30941:14746,LH00995:48:23YTGFLT4:4:1197:37874:12966,LH00995:48:23YTGFLT4:4:1324:35601:9057,LH00995:48:23YTGFLT4:4:1380:7893:24765,LH00995:48:23YTGFLT4:4:1474:3920:10038,LH00995:48:23YTGFLT4:4:2191:25205:18151,LH00995:48:23YTGFLT4:4:2223:42566:16526,LH00995:48:23YTGFLT4:4:2225:29226:6815,LH00995:48:23YTGFLT4:5:1193:8249:5120,LH00995:48:23YTGFLT4:5:2298:5191:21430,LH00995:48:23YTGFLT4:5:2410:30431:12686,LH00995:48:23YTGFLT4:5:2450:47518:18992,LH00995:48:23YTGFLT4:6:1154:39258:28646,LH00995:48:23YTGFLT4:6:1335:35075:21010,LH00995:48:23YTGFLT4:6:1335:35091:21010,LH00995:48:23YTGFLT4:6:1415:26330:8384,LH00995:48:23YTGFLT4:6:1484:19065:24667,LH00995:48:23YTGFLT4:6:2331:46595:22831,LH00995:48:23YTGFLT4:6:2442:41102:4153,LH00995:48:23YTGFLT4:7:1344:40965:26166,LH00995:48:23YTGFLT4:7:1344:40981:26166,LH00995:48:23YTGFLT4:7:1344:44209:15335,LH00995:48:23YTGFLT4:7:1419:13968:25620,LH00995:48:23YTGFLT4:7:1419:13984:25620,LH00995:48:23YTGFLT4:7:2113:6833:26012,LH00995:48:23YTGFLT4:7:2197:50996:20589,LH00995:48:23YTGFLT4:7:2270:20481:8174,LH00995:48:23YTGFLT4:7:2347:46620:26040,LH00995:48:23YTGFLT4:7:2467:46846:26544,LH00995:48:23YTGFLT4:8:1117:17843:6997,LH00995:48:23YTGFLT4:8:1294:39654:13527,LH00995:48:23YTGFLT4:8:1380:35285:6381,LH00995:48:23YTGFLT4:8:1385:8750:22411,LH00995:48:23YTGFLT4:8:1438:36289:20729,LH00995:48:23YTGFLT4:8:2144:13329:20113,LH00995:48:23YTGFLT4:8:2356:15238:19692
PCDHGB2 PCDHGB6 +/+ +/+ chr5:141362556 chr5:141494807 CDS CDS/splice-site deletion/read-through 26 14 0 274 18228 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(109) GCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN LH00995:48:23YTGFLT4:1:1236:10522:23350,LH00995:48:23YTGFLT4:1:1360:5045:29025,LH00995:48:23YTGFLT4:1:1364:13540:22579,LH00995:48:23YTGFLT4:1:1370:18879:23588,LH00995:48:23YTGFLT4:1:1406:43553:11817,LH00995:48:23YTGFLT4:1:1466:26815:24387,LH00995:48:23YTGFLT4:1:2130:42672:5694,LH00995:48:23YTGFLT4:1:2235:36547:7502,LH00995:48:23YTGFLT4:1:2235:36564:7502,LH00995:48:23YTGFLT4:1:2250:27729:25774,LH00995:48:23YTGFLT4:1:2286:37680:13359,LH00995:48:23YTGFLT4:1:2295:29097:20855,LH00995:48:23YTGFLT4:1:2426:10967:26783,LH00995:48:23YTGFLT4:1:2460:44435:12196,LH00995:48:23YTGFLT4:2:1169:3257:17296,LH00995:48:23YTGFLT4:2:1169:49815:1869,LH00995:48:23YTGFLT4:2:1178:36790:14564,LH00995:48:23YTGFLT4:2:1193:14802:1448,LH00995:48:23YTGFLT4:2:1291:16638:29263,LH00995:48:23YTGFLT4:2:1482:43173:18726,LH00995:48:23YTGFLT4:2:2215:11282:8244,LH00995:48:23YTGFLT4:2:2268:40746:2387,LH00995:48:23YTGFLT4:2:2396:6574:11972,LH00995:48:23YTGFLT4:3:1237:28174:12981,LH00995:48:23YTGFLT4:3:1337:50163:2920,LH00995:48:23YTGFLT4:3:1380:16274:21262,LH00995:48:23YTGFLT4:3:2201:26168:22789,LH00995:48:23YTGFLT4:3:2289:44071:1560,LH00995:48:23YTGFLT4:3:2384:24801:16021,LH00995:48:23YTGFLT4:3:2384:26718:23546,LH00995:48:23YTGFLT4:4:1120:2683:24737,LH00995:48:23YTGFLT4:4:1130:25869:12378,LH00995:48:23YTGFLT4:4:1134:27907:16273,LH00995:48:23YTGFLT4:4:1134:30682:20827,LH00995:48:23YTGFLT4:4:1146:51360:24863,LH00995:48:23YTGFLT4:4:1247:48812:10416,LH00995:48:23YTGFLT4:4:1272:39379:28604,LH00995:48:23YTGFLT4:4:1413:11339:18011,LH00995:48:23YTGFLT4:4:2125:17277:7866,LH00995:48:23YTGFLT4:4:2145:50033:3648,LH00995:48:23YTGFLT4:4:2152:28417:18249,LH00995:48:23YTGFLT4:4:2168:42445:1546,LH00995:48:23YTGFLT4:4:2238:9203:9211,LH00995:48:23YTGFLT4:4:2238:9211:9225,LH00995:48:23YTGFLT4:4:2255:3678:1603,LH00995:48:23YTGFLT4:5:1106:36070:14045,LH00995:48:23YTGFLT4:5:1283:1138:11747,LH00995:48:23YTGFLT4:5:1459:10684:11775,LH00995:48:23YTGFLT4:5:2320:29841:1070,LH00995:48:23YTGFLT4:5:2411:33271:14802,LH00995:48:23YTGFLT4:5:2433:14567:24975,LH00995:48:23YTGFLT4:5:2478:8135:6997,LH00995:48:23YTGFLT4:5:2487:48982:14606,LH00995:48:23YTGFLT4:6:1147:16638:7067,LH00995:48:23YTGFLT4:6:1289:18256:4265,LH00995:48:23YTGFLT4:6:1301:4988:11075,LH00995:48:23YTGFLT4:6:1497:27899:22032,LH00995:48:23YTGFLT4:6:1497:27907:22018,LH00995:48:23YTGFLT4:6:2161:5603:29627,LH00995:48:23YTGFLT4:6:2175:25650:7263,LH00995:48:23YTGFLT4:6:2242:4535:15279,LH00995:48:23YTGFLT4:6:2345:3387:14998,LH00995:48:23YTGFLT4:6:2349:27082:1476,LH00995:48:23YTGFLT4:6:2356:15166:29011,LH00995:48:23YTGFLT4:6:2369:44281:4559,LH00995:48:23YTGFLT4:7:1269:36539:14494,LH00995:48:23YTGFLT4:7:1312:11922:9099,LH00995:48:23YTGFLT4:7:1368:25650:6535,LH00995:48:23YTGFLT4:7:1441:19963:18403,LH00995:48:23YTGFLT4:7:1468:47121:25507,LH00995:48:23YTGFLT4:7:2212:48326:15881,LH00995:48:23YTGFLT4:7:2257:13750:25157,LH00995:48:23YTGFLT4:7:2285:48440:3522,LH00995:48:23YTGFLT4:7:2367:29590:25774,LH00995:48:23YTGFLT4:7:2443:40123:5260,LH00995:48:23YTGFLT4:8:1121:46709:20225,LH00995:48:23YTGFLT4:8:1173:7804:18950,LH00995:48:23YTGFLT4:8:1229:22277:16189,LH00995:48:23YTGFLT4:8:1432:4268:18992,LH00995:48:23YTGFLT4:8:2165:34436:10066,LH00995:48:23YTGFLT4:8:2326:52024:28898,LH00995:48:23YTGFLT4:8:2327:1582:19048,LH00995:48:23YTGFLT4:8:2336:35091:6381,LH00995:48:23YTGFLT4:8:2444:12245:19748,LH00995:48:23YTGFLT4:8:2456:40431:19412,LH00995:48:23YTGFLT4:1:1240:29914:8679,LH00995:48:23YTGFLT4:1:1257:10983:12518,LH00995:48:23YTGFLT4:1:1257:10991:12532,LH00995:48:23YTGFLT4:1:1280:22875:16526,LH00995:48:23YTGFLT4:1:1328:10142:29249,LH00995:48:23YTGFLT4:1:1438:43384:16932,LH00995:48:23YTGFLT4:1:2107:21799:23097,LH00995:48:23YTGFLT4:2:1113:30334:13639,LH00995:48:23YTGFLT4:2:1228:26831:1771,LH00995:48:23YTGFLT4:2:1249:15093:27091,LH00995:48:23YTGFLT4:2:1318:51635:21836,LH00995:48:23YTGFLT4:2:1318:51643:21822,LH00995:48:23YTGFLT4:2:1343:34994:25465,LH00995:48:23YTGFLT4:2:1403:40172:9519,LH00995:48:23YTGFLT4:2:2328:40212:7348,LH00995:48:23YTGFLT4:2:2478:37316:3480,LH00995:48:23YTGFLT4:3:1101:27074:20883,LH00995:48:23YTGFLT4:3:1183:39824:9365,LH00995:48:23YTGFLT4:3:1224:29849:18599,LH00995:48:23YTGFLT4:3:1284:22851:20323,LH00995:48:23YTGFLT4:3:1307:20804:21934,LH00995:48:23YTGFLT4:3:1307:20812:21948,LH00995:48:23YTGFLT4:3:1341:34929:16918,LH00995:48:23YTGFLT4:3:2103:4996:25942,LH00995:48:23YTGFLT4:3:2481:8605:13611,LH00995:48:23YTGFLT4:4:1114:32527:4125,LH00995:48:23YTGFLT4:4:1142:39428:28660,LH00995:48:23YTGFLT4:4:1145:1995:25283,LH00995:48:23YTGFLT4:4:1145:30941:14746,LH00995:48:23YTGFLT4:4:1197:37874:12966,LH00995:48:23YTGFLT4:4:1324:35601:9057,LH00995:48:23YTGFLT4:4:1380:7893:24765,LH00995:48:23YTGFLT4:4:1474:3920:10038,LH00995:48:23YTGFLT4:4:2191:25205:18151,LH00995:48:23YTGFLT4:4:2223:42566:16526,LH00995:48:23YTGFLT4:4:2225:29226:6815,LH00995:48:23YTGFLT4:5:1193:8249:5120,LH00995:48:23YTGFLT4:5:2298:5191:21430,LH00995:48:23YTGFLT4:5:2410:30431:12686,LH00995:48:23YTGFLT4:5:2450:47518:18992,LH00995:48:23YTGFLT4:6:1154:39258:28646,LH00995:48:23YTGFLT4:6:1335:35075:21010,LH00995:48:23YTGFLT4:6:1335:35091:21010,LH00995:48:23YTGFLT4:6:1415:26330:8384,LH00995:48:23YTGFLT4:6:1484:19065:24667,LH00995:48:23YTGFLT4:6:2331:46595:22831,LH00995:48:23YTGFLT4:6:2442:41102:4153,LH00995:48:23YTGFLT4:7:1344:40965:26166,LH00995:48:23YTGFLT4:7:1344:40981:26166,LH00995:48:23YTGFLT4:7:1344:44209:15335,LH00995:48:23YTGFLT4:7:1419:13968:25620,LH00995:48:23YTGFLT4:7:1419:13984:25620,LH00995:48:23YTGFLT4:7:2113:6833:26012,LH00995:48:23YTGFLT4:7:2197:50996:20589,LH00995:48:23YTGFLT4:7:2270:20481:8174,LH00995:48:23YTGFLT4:7:2347:46620:26040,LH00995:48:23YTGFLT4:7:2467:46846:26544,LH00995:48:23YTGFLT4:8:1117:17843:6997,LH00995:48:23YTGFLT4:8:1294:39654:13527,LH00995:48:23YTGFLT4:8:1380:35285:6381,LH00995:48:23YTGFLT4:8:1385:8750:22411,LH00995:48:23YTGFLT4:8:1438:36289:20729,LH00995:48:23YTGFLT4:8:2144:13329:20113,LH00995:48:23YTGFLT4:8:2356:15238:19692
PCDHGB2 PCDHGA11 +/+ +/+ chr5:141362556 chr5:141494807 CDS CDS/splice-site deletion/read-through 26 14 0 274 18228 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(109) GCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN LH00995:48:23YTGFLT4:1:1236:10522:23350,LH00995:48:23YTGFLT4:1:1360:5045:29025,LH00995:48:23YTGFLT4:1:1364:13540:22579,LH00995:48:23YTGFLT4:1:1370:18879:23588,LH00995:48:23YTGFLT4:1:1406:43553:11817,LH00995:48:23YTGFLT4:1:1466:26815:24387,LH00995:48:23YTGFLT4:1:2130:42672:5694,LH00995:48:23YTGFLT4:1:2235:36547:7502,LH00995:48:23YTGFLT4:1:2235:36564:7502,LH00995:48:23YTGFLT4:1:2250:27729:25774,LH00995:48:23YTGFLT4:1:2286:37680:13359,LH00995:48:23YTGFLT4:1:2295:29097:20855,LH00995:48:23YTGFLT4:1:2426:10967:26783,LH00995:48:23YTGFLT4:1:2460:44435:12196,LH00995:48:23YTGFLT4:2:1169:3257:17296,LH00995:48:23YTGFLT4:2:1169:49815:1869,LH00995:48:23YTGFLT4:2:1178:36790:14564,LH00995:48:23YTGFLT4:2:1193:14802:1448,LH00995:48:23YTGFLT4:2:1291:16638:29263,LH00995:48:23YTGFLT4:2:1482:43173:18726,LH00995:48:23YTGFLT4:2:2215:11282:8244,LH00995:48:23YTGFLT4:2:2268:40746:2387,LH00995:48:23YTGFLT4:2:2396:6574:11972,LH00995:48:23YTGFLT4:3:1237:28174:12981,LH00995:48:23YTGFLT4:3:1337:50163:2920,LH00995:48:23YTGFLT4:3:1380:16274:21262,LH00995:48:23YTGFLT4:3:2201:26168:22789,LH00995:48:23YTGFLT4:3:2289:44071:1560,LH00995:48:23YTGFLT4:3:2384:24801:16021,LH00995:48:23YTGFLT4:3:2384:26718:23546,LH00995:48:23YTGFLT4:4:1120:2683:24737,LH00995:48:23YTGFLT4:4:1130:25869:12378,LH00995:48:23YTGFLT4:4:1134:27907:16273,LH00995:48:23YTGFLT4:4:1134:30682:20827,LH00995:48:23YTGFLT4:4:1146:51360:24863,LH00995:48:23YTGFLT4:4:1247:48812:10416,LH00995:48:23YTGFLT4:4:1272:39379:28604,LH00995:48:23YTGFLT4:4:1413:11339:18011,LH00995:48:23YTGFLT4:4:2125:17277:7866,LH00995:48:23YTGFLT4:4:2145:50033:3648,LH00995:48:23YTGFLT4:4:2152:28417:18249,LH00995:48:23YTGFLT4:4:2168:42445:1546,LH00995:48:23YTGFLT4:4:2238:9203:9211,LH00995:48:23YTGFLT4:4:2238:9211:9225,LH00995:48:23YTGFLT4:4:2255:3678:1603,LH00995:48:23YTGFLT4:5:1106:36070:14045,LH00995:48:23YTGFLT4:5:1283:1138:11747,LH00995:48:23YTGFLT4:5:1459:10684:11775,LH00995:48:23YTGFLT4:5:2320:29841:1070,LH00995:48:23YTGFLT4:5:2411:33271:14802,LH00995:48:23YTGFLT4:5:2433:14567:24975,LH00995:48:23YTGFLT4:5:2478:8135:6997,LH00995:48:23YTGFLT4:5:2487:48982:14606,LH00995:48:23YTGFLT4:6:1147:16638:7067,LH00995:48:23YTGFLT4:6:1289:18256:4265,LH00995:48:23YTGFLT4:6:1301:4988:11075,LH00995:48:23YTGFLT4:6:1497:27899:22032,LH00995:48:23YTGFLT4:6:1497:27907:22018,LH00995:48:23YTGFLT4:6:2161:5603:29627,LH00995:48:23YTGFLT4:6:2175:25650:7263,LH00995:48:23YTGFLT4:6:2242:4535:15279,LH00995:48:23YTGFLT4:6:2345:3387:14998,LH00995:48:23YTGFLT4:6:2349:27082:1476,LH00995:48:23YTGFLT4:6:2356:15166:29011,LH00995:48:23YTGFLT4:6:2369:44281:4559,LH00995:48:23YTGFLT4:7:1269:36539:14494,LH00995:48:23YTGFLT4:7:1312:11922:9099,LH00995:48:23YTGFLT4:7:1368:25650:6535,LH00995:48:23YTGFLT4:7:1441:19963:18403,LH00995:48:23YTGFLT4:7:1468:47121:25507,LH00995:48:23YTGFLT4:7:2212:48326:15881,LH00995:48:23YTGFLT4:7:2257:13750:25157,LH00995:48:23YTGFLT4:7:2285:48440:3522,LH00995:48:23YTGFLT4:7:2367:29590:25774,LH00995:48:23YTGFLT4:7:2443:40123:5260,LH00995:48:23YTGFLT4:8:1121:46709:20225,LH00995:48:23YTGFLT4:8:1173:7804:18950,LH00995:48:23YTGFLT4:8:1229:22277:16189,LH00995:48:23YTGFLT4:8:1432:4268:18992,LH00995:48:23YTGFLT4:8:2165:34436:10066,LH00995:48:23YTGFLT4:8:2326:52024:28898,LH00995:48:23YTGFLT4:8:2327:1582:19048,LH00995:48:23YTGFLT4:8:2336:35091:6381,LH00995:48:23YTGFLT4:8:2444:12245:19748,LH00995:48:23YTGFLT4:8:2456:40431:19412,LH00995:48:23YTGFLT4:1:1240:29914:8679,LH00995:48:23YTGFLT4:1:1257:10983:12518,LH00995:48:23YTGFLT4:1:1257:10991:12532,LH00995:48:23YTGFLT4:1:1280:22875:16526,LH00995:48:23YTGFLT4:1:1328:10142:29249,LH00995:48:23YTGFLT4:1:1438:43384:16932,LH00995:48:23YTGFLT4:1:2107:21799:23097,LH00995:48:23YTGFLT4:2:1113:30334:13639,LH00995:48:23YTGFLT4:2:1228:26831:1771,LH00995:48:23YTGFLT4:2:1249:15093:27091,LH00995:48:23YTGFLT4:2:1318:51635:21836,LH00995:48:23YTGFLT4:2:1318:51643:21822,LH00995:48:23YTGFLT4:2:1343:34994:25465,LH00995:48:23YTGFLT4:2:1403:40172:9519,LH00995:48:23YTGFLT4:2:2328:40212:7348,LH00995:48:23YTGFLT4:2:2478:37316:3480,LH00995:48:23YTGFLT4:3:1101:27074:20883,LH00995:48:23YTGFLT4:3:1183:39824:9365,LH00995:48:23YTGFLT4:3:1224:29849:18599,LH00995:48:23YTGFLT4:3:1284:22851:20323,LH00995:48:23YTGFLT4:3:1307:20804:21934,LH00995:48:23YTGFLT4:3:1307:20812:21948,LH00995:48:23YTGFLT4:3:1341:34929:16918,LH00995:48:23YTGFLT4:3:2103:4996:25942,LH00995:48:23YTGFLT4:3:2481:8605:13611,LH00995:48:23YTGFLT4:4:1114:32527:4125,LH00995:48:23YTGFLT4:4:1142:39428:28660,LH00995:48:23YTGFLT4:4:1145:1995:25283,LH00995:48:23YTGFLT4:4:1145:30941:14746,LH00995:48:23YTGFLT4:4:1197:37874:12966,LH00995:48:23YTGFLT4:4:1324:35601:9057,LH00995:48:23YTGFLT4:4:1380:7893:24765,LH00995:48:23YTGFLT4:4:1474:3920:10038,LH00995:48:23YTGFLT4:4:2191:25205:18151,LH00995:48:23YTGFLT4:4:2223:42566:16526,LH00995:48:23YTGFLT4:4:2225:29226:6815,LH00995:48:23YTGFLT4:5:1193:8249:5120,LH00995:48:23YTGFLT4:5:2298:5191:21430,LH00995:48:23YTGFLT4:5:2410:30431:12686,LH00995:48:23YTGFLT4:5:2450:47518:18992,LH00995:48:23YTGFLT4:6:1154:39258:28646,LH00995:48:23YTGFLT4:6:1335:35075:21010,LH00995:48:23YTGFLT4:6:1335:35091:21010,LH00995:48:23YTGFLT4:6:1415:26330:8384,LH00995:48:23YTGFLT4:6:1484:19065:24667,LH00995:48:23YTGFLT4:6:2331:46595:22831,LH00995:48:23YTGFLT4:6:2442:41102:4153,LH00995:48:23YTGFLT4:7:1344:40965:26166,LH00995:48:23YTGFLT4:7:1344:40981:26166,LH00995:48:23YTGFLT4:7:1344:44209:15335,LH00995:48:23YTGFLT4:7:1419:13968:25620,LH00995:48:23YTGFLT4:7:1419:13984:25620,LH00995:48:23YTGFLT4:7:2113:6833:26012,LH00995:48:23YTGFLT4:7:2197:50996:20589,LH00995:48:23YTGFLT4:7:2270:20481:8174,LH00995:48:23YTGFLT4:7:2347:46620:26040,LH00995:48:23YTGFLT4:7:2467:46846:26544,LH00995:48:23YTGFLT4:8:1117:17843:6997,LH00995:48:23YTGFLT4:8:1294:39654:13527,LH00995:48:23YTGFLT4:8:1380:35285:6381,LH00995:48:23YTGFLT4:8:1385:8750:22411,LH00995:48:23YTGFLT4:8:1438:36289:20729,LH00995:48:23YTGFLT4:8:2144:13329:20113,LH00995:48:23YTGFLT4:8:2356:15238:19692
PCDHGB2 PCDHGC4 +/+ +/+ chr5:141362556 chr5:141494807 CDS CDS/splice-site deletion/read-through 26 14 0 274 18228 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(109) GCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN LH00995:48:23YTGFLT4:1:1236:10522:23350,LH00995:48:23YTGFLT4:1:1360:5045:29025,LH00995:48:23YTGFLT4:1:1364:13540:22579,LH00995:48:23YTGFLT4:1:1370:18879:23588,LH00995:48:23YTGFLT4:1:1406:43553:11817,LH00995:48:23YTGFLT4:1:1466:26815:24387,LH00995:48:23YTGFLT4:1:2130:42672:5694,LH00995:48:23YTGFLT4:1:2235:36547:7502,LH00995:48:23YTGFLT4:1:2235:36564:7502,LH00995:48:23YTGFLT4:1:2250:27729:25774,LH00995:48:23YTGFLT4:1:2286:37680:13359,LH00995:48:23YTGFLT4:1:2295:29097:20855,LH00995:48:23YTGFLT4:1:2426:10967:26783,LH00995:48:23YTGFLT4:1:2460:44435:12196,LH00995:48:23YTGFLT4:2:1169:3257:17296,LH00995:48:23YTGFLT4:2:1169:49815:1869,LH00995:48:23YTGFLT4:2:1178:36790:14564,LH00995:48:23YTGFLT4:2:1193:14802:1448,LH00995:48:23YTGFLT4:2:1291:16638:29263,LH00995:48:23YTGFLT4:2:1482:43173:18726,LH00995:48:23YTGFLT4:2:2215:11282:8244,LH00995:48:23YTGFLT4:2:2268:40746:2387,LH00995:48:23YTGFLT4:2:2396:6574:11972,LH00995:48:23YTGFLT4:3:1237:28174:12981,LH00995:48:23YTGFLT4:3:1337:50163:2920,LH00995:48:23YTGFLT4:3:1380:16274:21262,LH00995:48:23YTGFLT4:3:2201:26168:22789,LH00995:48:23YTGFLT4:3:2289:44071:1560,LH00995:48:23YTGFLT4:3:2384:24801:16021,LH00995:48:23YTGFLT4:3:2384:26718:23546,LH00995:48:23YTGFLT4:4:1120:2683:24737,LH00995:48:23YTGFLT4:4:1130:25869:12378,LH00995:48:23YTGFLT4:4:1134:27907:16273,LH00995:48:23YTGFLT4:4:1134:30682:20827,LH00995:48:23YTGFLT4:4:1146:51360:24863,LH00995:48:23YTGFLT4:4:1247:48812:10416,LH00995:48:23YTGFLT4:4:1272:39379:28604,LH00995:48:23YTGFLT4:4:1413:11339:18011,LH00995:48:23YTGFLT4:4:2125:17277:7866,LH00995:48:23YTGFLT4:4:2145:50033:3648,LH00995:48:23YTGFLT4:4:2152:28417:18249,LH00995:48:23YTGFLT4:4:2168:42445:1546,LH00995:48:23YTGFLT4:4:2238:9203:9211,LH00995:48:23YTGFLT4:4:2238:9211:9225,LH00995:48:23YTGFLT4:4:2255:3678:1603,LH00995:48:23YTGFLT4:5:1106:36070:14045,LH00995:48:23YTGFLT4:5:1283:1138:11747,LH00995:48:23YTGFLT4:5:1459:10684:11775,LH00995:48:23YTGFLT4:5:2320:29841:1070,LH00995:48:23YTGFLT4:5:2411:33271:14802,LH00995:48:23YTGFLT4:5:2433:14567:24975,LH00995:48:23YTGFLT4:5:2478:8135:6997,LH00995:48:23YTGFLT4:5:2487:48982:14606,LH00995:48:23YTGFLT4:6:1147:16638:7067,LH00995:48:23YTGFLT4:6:1289:18256:4265,LH00995:48:23YTGFLT4:6:1301:4988:11075,LH00995:48:23YTGFLT4:6:1497:27899:22032,LH00995:48:23YTGFLT4:6:1497:27907:22018,LH00995:48:23YTGFLT4:6:2161:5603:29627,LH00995:48:23YTGFLT4:6:2175:25650:7263,LH00995:48:23YTGFLT4:6:2242:4535:15279,LH00995:48:23YTGFLT4:6:2345:3387:14998,LH00995:48:23YTGFLT4:6:2349:27082:1476,LH00995:48:23YTGFLT4:6:2356:15166:29011,LH00995:48:23YTGFLT4:6:2369:44281:4559,LH00995:48:23YTGFLT4:7:1269:36539:14494,LH00995:48:23YTGFLT4:7:1312:11922:9099,LH00995:48:23YTGFLT4:7:1368:25650:6535,LH00995:48:23YTGFLT4:7:1441:19963:18403,LH00995:48:23YTGFLT4:7:1468:47121:25507,LH00995:48:23YTGFLT4:7:2212:48326:15881,LH00995:48:23YTGFLT4:7:2257:13750:25157,LH00995:48:23YTGFLT4:7:2285:48440:3522,LH00995:48:23YTGFLT4:7:2367:29590:25774,LH00995:48:23YTGFLT4:7:2443:40123:5260,LH00995:48:23YTGFLT4:8:1121:46709:20225,LH00995:48:23YTGFLT4:8:1173:7804:18950,LH00995:48:23YTGFLT4:8:1229:22277:16189,LH00995:48:23YTGFLT4:8:1432:4268:18992,LH00995:48:23YTGFLT4:8:2165:34436:10066,LH00995:48:23YTGFLT4:8:2326:52024:28898,LH00995:48:23YTGFLT4:8:2327:1582:19048,LH00995:48:23YTGFLT4:8:2336:35091:6381,LH00995:48:23YTGFLT4:8:2444:12245:19748,LH00995:48:23YTGFLT4:8:2456:40431:19412,LH00995:48:23YTGFLT4:1:1240:29914:8679,LH00995:48:23YTGFLT4:1:1257:10983:12518,LH00995:48:23YTGFLT4:1:1257:10991:12532,LH00995:48:23YTGFLT4:1:1280:22875:16526,LH00995:48:23YTGFLT4:1:1328:10142:29249,LH00995:48:23YTGFLT4:1:1438:43384:16932,LH00995:48:23YTGFLT4:1:2107:21799:23097,LH00995:48:23YTGFLT4:2:1113:30334:13639,LH00995:48:23YTGFLT4:2:1228:26831:1771,LH00995:48:23YTGFLT4:2:1249:15093:27091,LH00995:48:23YTGFLT4:2:1318:51635:21836,LH00995:48:23YTGFLT4:2:1318:51643:21822,LH00995:48:23YTGFLT4:2:1343:34994:25465,LH00995:48:23YTGFLT4:2:1403:40172:9519,LH00995:48:23YTGFLT4:2:2328:40212:7348,LH00995:48:23YTGFLT4:2:2478:37316:3480,LH00995:48:23YTGFLT4:3:1101:27074:20883,LH00995:48:23YTGFLT4:3:1183:39824:9365,LH00995:48:23YTGFLT4:3:1224:29849:18599,LH00995:48:23YTGFLT4:3:1284:22851:20323,LH00995:48:23YTGFLT4:3:1307:20804:21934,LH00995:48:23YTGFLT4:3:1307:20812:21948,LH00995:48:23YTGFLT4:3:1341:34929:16918,LH00995:48:23YTGFLT4:3:2103:4996:25942,LH00995:48:23YTGFLT4:3:2481:8605:13611,LH00995:48:23YTGFLT4:4:1114:32527:4125,LH00995:48:23YTGFLT4:4:1142:39428:28660,LH00995:48:23YTGFLT4:4:1145:1995:25283,LH00995:48:23YTGFLT4:4:1145:30941:14746,LH00995:48:23YTGFLT4:4:1197:37874:12966,LH00995:48:23YTGFLT4:4:1324:35601:9057,LH00995:48:23YTGFLT4:4:1380:7893:24765,LH00995:48:23YTGFLT4:4:1474:3920:10038,LH00995:48:23YTGFLT4:4:2191:25205:18151,LH00995:48:23YTGFLT4:4:2223:42566:16526,LH00995:48:23YTGFLT4:4:2225:29226:6815,LH00995:48:23YTGFLT4:5:1193:8249:5120,LH00995:48:23YTGFLT4:5:2298:5191:21430,LH00995:48:23YTGFLT4:5:2410:30431:12686,LH00995:48:23YTGFLT4:5:2450:47518:18992,LH00995:48:23YTGFLT4:6:1154:39258:28646,LH00995:48:23YTGFLT4:6:1335:35075:21010,LH00995:48:23YTGFLT4:6:1335:35091:21010,LH00995:48:23YTGFLT4:6:1415:26330:8384,LH00995:48:23YTGFLT4:6:1484:19065:24667,LH00995:48:23YTGFLT4:6:2331:46595:22831,LH00995:48:23YTGFLT4:6:2442:41102:4153,LH00995:48:23YTGFLT4:7:1344:40965:26166,LH00995:48:23YTGFLT4:7:1344:40981:26166,LH00995:48:23YTGFLT4:7:1344:44209:15335,LH00995:48:23YTGFLT4:7:1419:13968:25620,LH00995:48:23YTGFLT4:7:1419:13984:25620,LH00995:48:23YTGFLT4:7:2113:6833:26012,LH00995:48:23YTGFLT4:7:2197:50996:20589,LH00995:48:23YTGFLT4:7:2270:20481:8174,LH00995:48:23YTGFLT4:7:2347:46620:26040,LH00995:48:23YTGFLT4:7:2467:46846:26544,LH00995:48:23YTGFLT4:8:1117:17843:6997,LH00995:48:23YTGFLT4:8:1294:39654:13527,LH00995:48:23YTGFLT4:8:1380:35285:6381,LH00995:48:23YTGFLT4:8:1385:8750:22411,LH00995:48:23YTGFLT4:8:1438:36289:20729,LH00995:48:23YTGFLT4:8:2144:13329:20113,LH00995:48:23YTGFLT4:8:2356:15238:19692
PCDHGB2 PCDHGA10 +/+ +/+ chr5:141362556 chr5:141494807 CDS CDS/splice-site deletion/read-through 26 14 0 274 18228 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(109) GCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN LH00995:48:23YTGFLT4:1:1236:10522:23350,LH00995:48:23YTGFLT4:1:1360:5045:29025,LH00995:48:23YTGFLT4:1:1364:13540:22579,LH00995:48:23YTGFLT4:1:1370:18879:23588,LH00995:48:23YTGFLT4:1:1406:43553:11817,LH00995:48:23YTGFLT4:1:1466:26815:24387,LH00995:48:23YTGFLT4:1:2130:42672:5694,LH00995:48:23YTGFLT4:1:2235:36547:7502,LH00995:48:23YTGFLT4:1:2235:36564:7502,LH00995:48:23YTGFLT4:1:2250:27729:25774,LH00995:48:23YTGFLT4:1:2286:37680:13359,LH00995:48:23YTGFLT4:1:2295:29097:20855,LH00995:48:23YTGFLT4:1:2426:10967:26783,LH00995:48:23YTGFLT4:1:2460:44435:12196,LH00995:48:23YTGFLT4:2:1169:3257:17296,LH00995:48:23YTGFLT4:2:1169:49815:1869,LH00995:48:23YTGFLT4:2:1178:36790:14564,LH00995:48:23YTGFLT4:2:1193:14802:1448,LH00995:48:23YTGFLT4:2:1291:16638:29263,LH00995:48:23YTGFLT4:2:1482:43173:18726,LH00995:48:23YTGFLT4:2:2215:11282:8244,LH00995:48:23YTGFLT4:2:2268:40746:2387,LH00995:48:23YTGFLT4:2:2396:6574:11972,LH00995:48:23YTGFLT4:3:1237:28174:12981,LH00995:48:23YTGFLT4:3:1337:50163:2920,LH00995:48:23YTGFLT4:3:1380:16274:21262,LH00995:48:23YTGFLT4:3:2201:26168:22789,LH00995:48:23YTGFLT4:3:2289:44071:1560,LH00995:48:23YTGFLT4:3:2384:24801:16021,LH00995:48:23YTGFLT4:3:2384:26718:23546,LH00995:48:23YTGFLT4:4:1120:2683:24737,LH00995:48:23YTGFLT4:4:1130:25869:12378,LH00995:48:23YTGFLT4:4:1134:27907:16273,LH00995:48:23YTGFLT4:4:1134:30682:20827,LH00995:48:23YTGFLT4:4:1146:51360:24863,LH00995:48:23YTGFLT4:4:1247:48812:10416,LH00995:48:23YTGFLT4:4:1272:39379:28604,LH00995:48:23YTGFLT4:4:1413:11339:18011,LH00995:48:23YTGFLT4:4:2125:17277:7866,LH00995:48:23YTGFLT4:4:2145:50033:3648,LH00995:48:23YTGFLT4:4:2152:28417:18249,LH00995:48:23YTGFLT4:4:2168:42445:1546,LH00995:48:23YTGFLT4:4:2238:9203:9211,LH00995:48:23YTGFLT4:4:2238:9211:9225,LH00995:48:23YTGFLT4:4:2255:3678:1603,LH00995:48:23YTGFLT4:5:1106:36070:14045,LH00995:48:23YTGFLT4:5:1283:1138:11747,LH00995:48:23YTGFLT4:5:1459:10684:11775,LH00995:48:23YTGFLT4:5:2320:29841:1070,LH00995:48:23YTGFLT4:5:2411:33271:14802,LH00995:48:23YTGFLT4:5:2433:14567:24975,LH00995:48:23YTGFLT4:5:2478:8135:6997,LH00995:48:23YTGFLT4:5:2487:48982:14606,LH00995:48:23YTGFLT4:6:1147:16638:7067,LH00995:48:23YTGFLT4:6:1289:18256:4265,LH00995:48:23YTGFLT4:6:1301:4988:11075,LH00995:48:23YTGFLT4:6:1497:27899:22032,LH00995:48:23YTGFLT4:6:1497:27907:22018,LH00995:48:23YTGFLT4:6:2161:5603:29627,LH00995:48:23YTGFLT4:6:2175:25650:7263,LH00995:48:23YTGFLT4:6:2242:4535:15279,LH00995:48:23YTGFLT4:6:2345:3387:14998,LH00995:48:23YTGFLT4:6:2349:27082:1476,LH00995:48:23YTGFLT4:6:2356:15166:29011,LH00995:48:23YTGFLT4:6:2369:44281:4559,LH00995:48:23YTGFLT4:7:1269:36539:14494,LH00995:48:23YTGFLT4:7:1312:11922:9099,LH00995:48:23YTGFLT4:7:1368:25650:6535,LH00995:48:23YTGFLT4:7:1441:19963:18403,LH00995:48:23YTGFLT4:7:1468:47121:25507,LH00995:48:23YTGFLT4:7:2212:48326:15881,LH00995:48:23YTGFLT4:7:2257:13750:25157,LH00995:48:23YTGFLT4:7:2285:48440:3522,LH00995:48:23YTGFLT4:7:2367:29590:25774,LH00995:48:23YTGFLT4:7:2443:40123:5260,LH00995:48:23YTGFLT4:8:1121:46709:20225,LH00995:48:23YTGFLT4:8:1173:7804:18950,LH00995:48:23YTGFLT4:8:1229:22277:16189,LH00995:48:23YTGFLT4:8:1432:4268:18992,LH00995:48:23YTGFLT4:8:2165:34436:10066,LH00995:48:23YTGFLT4:8:2326:52024:28898,LH00995:48:23YTGFLT4:8:2327:1582:19048,LH00995:48:23YTGFLT4:8:2336:35091:6381,LH00995:48:23YTGFLT4:8:2444:12245:19748,LH00995:48:23YTGFLT4:8:2456:40431:19412,LH00995:48:23YTGFLT4:1:1240:29914:8679,LH00995:48:23YTGFLT4:1:1257:10983:12518,LH00995:48:23YTGFLT4:1:1257:10991:12532,LH00995:48:23YTGFLT4:1:1280:22875:16526,LH00995:48:23YTGFLT4:1:1328:10142:29249,LH00995:48:23YTGFLT4:1:1438:43384:16932,LH00995:48:23YTGFLT4:1:2107:21799:23097,LH00995:48:23YTGFLT4:2:1113:30334:13639,LH00995:48:23YTGFLT4:2:1228:26831:1771,LH00995:48:23YTGFLT4:2:1249:15093:27091,LH00995:48:23YTGFLT4:2:1318:51635:21836,LH00995:48:23YTGFLT4:2:1318:51643:21822,LH00995:48:23YTGFLT4:2:1343:34994:25465,LH00995:48:23YTGFLT4:2:1403:40172:9519,LH00995:48:23YTGFLT4:2:2328:40212:7348,LH00995:48:23YTGFLT4:2:2478:37316:3480,LH00995:48:23YTGFLT4:3:1101:27074:20883,LH00995:48:23YTGFLT4:3:1183:39824:9365,LH00995:48:23YTGFLT4:3:1224:29849:18599,LH00995:48:23YTGFLT4:3:1284:22851:20323,LH00995:48:23YTGFLT4:3:1307:20804:21934,LH00995:48:23YTGFLT4:3:1307:20812:21948,LH00995:48:23YTGFLT4:3:1341:34929:16918,LH00995:48:23YTGFLT4:3:2103:4996:25942,LH00995:48:23YTGFLT4:3:2481:8605:13611,LH00995:48:23YTGFLT4:4:1114:32527:4125,LH00995:48:23YTGFLT4:4:1142:39428:28660,LH00995:48:23YTGFLT4:4:1145:1995:25283,LH00995:48:23YTGFLT4:4:1145:30941:14746,LH00995:48:23YTGFLT4:4:1197:37874:12966,LH00995:48:23YTGFLT4:4:1324:35601:9057,LH00995:48:23YTGFLT4:4:1380:7893:24765,LH00995:48:23YTGFLT4:4:1474:3920:10038,LH00995:48:23YTGFLT4:4:2191:25205:18151,LH00995:48:23YTGFLT4:4:2223:42566:16526,LH00995:48:23YTGFLT4:4:2225:29226:6815,LH00995:48:23YTGFLT4:5:1193:8249:5120,LH00995:48:23YTGFLT4:5:2298:5191:21430,LH00995:48:23YTGFLT4:5:2410:30431:12686,LH00995:48:23YTGFLT4:5:2450:47518:18992,LH00995:48:23YTGFLT4:6:1154:39258:28646,LH00995:48:23YTGFLT4:6:1335:35075:21010,LH00995:48:23YTGFLT4:6:1335:35091:21010,LH00995:48:23YTGFLT4:6:1415:26330:8384,LH00995:48:23YTGFLT4:6:1484:19065:24667,LH00995:48:23YTGFLT4:6:2331:46595:22831,LH00995:48:23YTGFLT4:6:2442:41102:4153,LH00995:48:23YTGFLT4:7:1344:40965:26166,LH00995:48:23YTGFLT4:7:1344:40981:26166,LH00995:48:23YTGFLT4:7:1344:44209:15335,LH00995:48:23YTGFLT4:7:1419:13968:25620,LH00995:48:23YTGFLT4:7:1419:13984:25620,LH00995:48:23YTGFLT4:7:2113:6833:26012,LH00995:48:23YTGFLT4:7:2197:50996:20589,LH00995:48:23YTGFLT4:7:2270:20481:8174,LH00995:48:23YTGFLT4:7:2347:46620:26040,LH00995:48:23YTGFLT4:7:2467:46846:26544,LH00995:48:23YTGFLT4:8:1117:17843:6997,LH00995:48:23YTGFLT4:8:1294:39654:13527,LH00995:48:23YTGFLT4:8:1380:35285:6381,LH00995:48:23YTGFLT4:8:1385:8750:22411,LH00995:48:23YTGFLT4:8:1438:36289:20729,LH00995:48:23YTGFLT4:8:2144:13329:20113,LH00995:48:23YTGFLT4:8:2356:15238:19692
PCDHGB2 PCDHGA9 +/+ +/+ chr5:141362556 chr5:141494807 CDS CDS/splice-site deletion/read-through 26 14 0 274 18228 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(109) GCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN LH00995:48:23YTGFLT4:1:1236:10522:23350,LH00995:48:23YTGFLT4:1:1360:5045:29025,LH00995:48:23YTGFLT4:1:1364:13540:22579,LH00995:48:23YTGFLT4:1:1370:18879:23588,LH00995:48:23YTGFLT4:1:1406:43553:11817,LH00995:48:23YTGFLT4:1:1466:26815:24387,LH00995:48:23YTGFLT4:1:2130:42672:5694,LH00995:48:23YTGFLT4:1:2235:36547:7502,LH00995:48:23YTGFLT4:1:2235:36564:7502,LH00995:48:23YTGFLT4:1:2250:27729:25774,LH00995:48:23YTGFLT4:1:2286:37680:13359,LH00995:48:23YTGFLT4:1:2295:29097:20855,LH00995:48:23YTGFLT4:1:2426:10967:26783,LH00995:48:23YTGFLT4:1:2460:44435:12196,LH00995:48:23YTGFLT4:2:1169:3257:17296,LH00995:48:23YTGFLT4:2:1169:49815:1869,LH00995:48:23YTGFLT4:2:1178:36790:14564,LH00995:48:23YTGFLT4:2:1193:14802:1448,LH00995:48:23YTGFLT4:2:1291:16638:29263,LH00995:48:23YTGFLT4:2:1482:43173:18726,LH00995:48:23YTGFLT4:2:2215:11282:8244,LH00995:48:23YTGFLT4:2:2268:40746:2387,LH00995:48:23YTGFLT4:2:2396:6574:11972,LH00995:48:23YTGFLT4:3:1237:28174:12981,LH00995:48:23YTGFLT4:3:1337:50163:2920,LH00995:48:23YTGFLT4:3:1380:16274:21262,LH00995:48:23YTGFLT4:3:2201:26168:22789,LH00995:48:23YTGFLT4:3:2289:44071:1560,LH00995:48:23YTGFLT4:3:2384:24801:16021,LH00995:48:23YTGFLT4:3:2384:26718:23546,LH00995:48:23YTGFLT4:4:1120:2683:24737,LH00995:48:23YTGFLT4:4:1130:25869:12378,LH00995:48:23YTGFLT4:4:1134:27907:16273,LH00995:48:23YTGFLT4:4:1134:30682:20827,LH00995:48:23YTGFLT4:4:1146:51360:24863,LH00995:48:23YTGFLT4:4:1247:48812:10416,LH00995:48:23YTGFLT4:4:1272:39379:28604,LH00995:48:23YTGFLT4:4:1413:11339:18011,LH00995:48:23YTGFLT4:4:2125:17277:7866,LH00995:48:23YTGFLT4:4:2145:50033:3648,LH00995:48:23YTGFLT4:4:2152:28417:18249,LH00995:48:23YTGFLT4:4:2168:42445:1546,LH00995:48:23YTGFLT4:4:2238:9203:9211,LH00995:48:23YTGFLT4:4:2238:9211:9225,LH00995:48:23YTGFLT4:4:2255:3678:1603,LH00995:48:23YTGFLT4:5:1106:36070:14045,LH00995:48:23YTGFLT4:5:1283:1138:11747,LH00995:48:23YTGFLT4:5:1459:10684:11775,LH00995:48:23YTGFLT4:5:2320:29841:1070,LH00995:48:23YTGFLT4:5:2411:33271:14802,LH00995:48:23YTGFLT4:5:2433:14567:24975,LH00995:48:23YTGFLT4:5:2478:8135:6997,LH00995:48:23YTGFLT4:5:2487:48982:14606,LH00995:48:23YTGFLT4:6:1147:16638:7067,LH00995:48:23YTGFLT4:6:1289:18256:4265,LH00995:48:23YTGFLT4:6:1301:4988:11075,LH00995:48:23YTGFLT4:6:1497:27899:22032,LH00995:48:23YTGFLT4:6:1497:27907:22018,LH00995:48:23YTGFLT4:6:2161:5603:29627,LH00995:48:23YTGFLT4:6:2175:25650:7263,LH00995:48:23YTGFLT4:6:2242:4535:15279,LH00995:48:23YTGFLT4:6:2345:3387:14998,LH00995:48:23YTGFLT4:6:2349:27082:1476,LH00995:48:23YTGFLT4:6:2356:15166:29011,LH00995:48:23YTGFLT4:6:2369:44281:4559,LH00995:48:23YTGFLT4:7:1269:36539:14494,LH00995:48:23YTGFLT4:7:1312:11922:9099,LH00995:48:23YTGFLT4:7:1368:25650:6535,LH00995:48:23YTGFLT4:7:1441:19963:18403,LH00995:48:23YTGFLT4:7:1468:47121:25507,LH00995:48:23YTGFLT4:7:2212:48326:15881,LH00995:48:23YTGFLT4:7:2257:13750:25157,LH00995:48:23YTGFLT4:7:2285:48440:3522,LH00995:48:23YTGFLT4:7:2367:29590:25774,LH00995:48:23YTGFLT4:7:2443:40123:5260,LH00995:48:23YTGFLT4:8:1121:46709:20225,LH00995:48:23YTGFLT4:8:1173:7804:18950,LH00995:48:23YTGFLT4:8:1229:22277:16189,LH00995:48:23YTGFLT4:8:1432:4268:18992,LH00995:48:23YTGFLT4:8:2165:34436:10066,LH00995:48:23YTGFLT4:8:2326:52024:28898,LH00995:48:23YTGFLT4:8:2327:1582:19048,LH00995:48:23YTGFLT4:8:2336:35091:6381,LH00995:48:23YTGFLT4:8:2444:12245:19748,LH00995:48:23YTGFLT4:8:2456:40431:19412,LH00995:48:23YTGFLT4:1:1240:29914:8679,LH00995:48:23YTGFLT4:1:1257:10983:12518,LH00995:48:23YTGFLT4:1:1257:10991:12532,LH00995:48:23YTGFLT4:1:1280:22875:16526,LH00995:48:23YTGFLT4:1:1328:10142:29249,LH00995:48:23YTGFLT4:1:1438:43384:16932,LH00995:48:23YTGFLT4:1:2107:21799:23097,LH00995:48:23YTGFLT4:2:1113:30334:13639,LH00995:48:23YTGFLT4:2:1228:26831:1771,LH00995:48:23YTGFLT4:2:1249:15093:27091,LH00995:48:23YTGFLT4:2:1318:51635:21836,LH00995:48:23YTGFLT4:2:1318:51643:21822,LH00995:48:23YTGFLT4:2:1343:34994:25465,LH00995:48:23YTGFLT4:2:1403:40172:9519,LH00995:48:23YTGFLT4:2:2328:40212:7348,LH00995:48:23YTGFLT4:2:2478:37316:3480,LH00995:48:23YTGFLT4:3:1101:27074:20883,LH00995:48:23YTGFLT4:3:1183:39824:9365,LH00995:48:23YTGFLT4:3:1224:29849:18599,LH00995:48:23YTGFLT4:3:1284:22851:20323,LH00995:48:23YTGFLT4:3:1307:20804:21934,LH00995:48:23YTGFLT4:3:1307:20812:21948,LH00995:48:23YTGFLT4:3:1341:34929:16918,LH00995:48:23YTGFLT4:3:2103:4996:25942,LH00995:48:23YTGFLT4:3:2481:8605:13611,LH00995:48:23YTGFLT4:4:1114:32527:4125,LH00995:48:23YTGFLT4:4:1142:39428:28660,LH00995:48:23YTGFLT4:4:1145:1995:25283,LH00995:48:23YTGFLT4:4:1145:30941:14746,LH00995:48:23YTGFLT4:4:1197:37874:12966,LH00995:48:23YTGFLT4:4:1324:35601:9057,LH00995:48:23YTGFLT4:4:1380:7893:24765,LH00995:48:23YTGFLT4:4:1474:3920:10038,LH00995:48:23YTGFLT4:4:2191:25205:18151,LH00995:48:23YTGFLT4:4:2223:42566:16526,LH00995:48:23YTGFLT4:4:2225:29226:6815,LH00995:48:23YTGFLT4:5:1193:8249:5120,LH00995:48:23YTGFLT4:5:2298:5191:21430,LH00995:48:23YTGFLT4:5:2410:30431:12686,LH00995:48:23YTGFLT4:5:2450:47518:18992,LH00995:48:23YTGFLT4:6:1154:39258:28646,LH00995:48:23YTGFLT4:6:1335:35075:21010,LH00995:48:23YTGFLT4:6:1335:35091:21010,LH00995:48:23YTGFLT4:6:1415:26330:8384,LH00995:48:23YTGFLT4:6:1484:19065:24667,LH00995:48:23YTGFLT4:6:2331:46595:22831,LH00995:48:23YTGFLT4:6:2442:41102:4153,LH00995:48:23YTGFLT4:7:1344:40965:26166,LH00995:48:23YTGFLT4:7:1344:40981:26166,LH00995:48:23YTGFLT4:7:1344:44209:15335,LH00995:48:23YTGFLT4:7:1419:13968:25620,LH00995:48:23YTGFLT4:7:1419:13984:25620,LH00995:48:23YTGFLT4:7:2113:6833:26012,LH00995:48:23YTGFLT4:7:2197:50996:20589,LH00995:48:23YTGFLT4:7:2270:20481:8174,LH00995:48:23YTGFLT4:7:2347:46620:26040,LH00995:48:23YTGFLT4:7:2467:46846:26544,LH00995:48:23YTGFLT4:8:1117:17843:6997,LH00995:48:23YTGFLT4:8:1294:39654:13527,LH00995:48:23YTGFLT4:8:1380:35285:6381,LH00995:48:23YTGFLT4:8:1385:8750:22411,LH00995:48:23YTGFLT4:8:1438:36289:20729,LH00995:48:23YTGFLT4:8:2144:13329:20113,LH00995:48:23YTGFLT4:8:2356:15238:19692
PCDHGB2 PCDHGC5 +/+ +/+ chr5:141362556 chr5:141494807 CDS CDS/splice-site deletion/read-through 26 14 0 274 18228 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(109) GCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN LH00995:48:23YTGFLT4:1:1236:10522:23350,LH00995:48:23YTGFLT4:1:1360:5045:29025,LH00995:48:23YTGFLT4:1:1364:13540:22579,LH00995:48:23YTGFLT4:1:1370:18879:23588,LH00995:48:23YTGFLT4:1:1406:43553:11817,LH00995:48:23YTGFLT4:1:1466:26815:24387,LH00995:48:23YTGFLT4:1:2130:42672:5694,LH00995:48:23YTGFLT4:1:2235:36547:7502,LH00995:48:23YTGFLT4:1:2235:36564:7502,LH00995:48:23YTGFLT4:1:2250:27729:25774,LH00995:48:23YTGFLT4:1:2286:37680:13359,LH00995:48:23YTGFLT4:1:2295:29097:20855,LH00995:48:23YTGFLT4:1:2426:10967:26783,LH00995:48:23YTGFLT4:1:2460:44435:12196,LH00995:48:23YTGFLT4:2:1169:3257:17296,LH00995:48:23YTGFLT4:2:1169:49815:1869,LH00995:48:23YTGFLT4:2:1178:36790:14564,LH00995:48:23YTGFLT4:2:1193:14802:1448,LH00995:48:23YTGFLT4:2:1291:16638:29263,LH00995:48:23YTGFLT4:2:1482:43173:18726,LH00995:48:23YTGFLT4:2:2215:11282:8244,LH00995:48:23YTGFLT4:2:2268:40746:2387,LH00995:48:23YTGFLT4:2:2396:6574:11972,LH00995:48:23YTGFLT4:3:1237:28174:12981,LH00995:48:23YTGFLT4:3:1337:50163:2920,LH00995:48:23YTGFLT4:3:1380:16274:21262,LH00995:48:23YTGFLT4:3:2201:26168:22789,LH00995:48:23YTGFLT4:3:2289:44071:1560,LH00995:48:23YTGFLT4:3:2384:24801:16021,LH00995:48:23YTGFLT4:3:2384:26718:23546,LH00995:48:23YTGFLT4:4:1120:2683:24737,LH00995:48:23YTGFLT4:4:1130:25869:12378,LH00995:48:23YTGFLT4:4:1134:27907:16273,LH00995:48:23YTGFLT4:4:1134:30682:20827,LH00995:48:23YTGFLT4:4:1146:51360:24863,LH00995:48:23YTGFLT4:4:1247:48812:10416,LH00995:48:23YTGFLT4:4:1272:39379:28604,LH00995:48:23YTGFLT4:4:1413:11339:18011,LH00995:48:23YTGFLT4:4:2125:17277:7866,LH00995:48:23YTGFLT4:4:2145:50033:3648,LH00995:48:23YTGFLT4:4:2152:28417:18249,LH00995:48:23YTGFLT4:4:2168:42445:1546,LH00995:48:23YTGFLT4:4:2238:9203:9211,LH00995:48:23YTGFLT4:4:2238:9211:9225,LH00995:48:23YTGFLT4:4:2255:3678:1603,LH00995:48:23YTGFLT4:5:1106:36070:14045,LH00995:48:23YTGFLT4:5:1283:1138:11747,LH00995:48:23YTGFLT4:5:1459:10684:11775,LH00995:48:23YTGFLT4:5:2320:29841:1070,LH00995:48:23YTGFLT4:5:2411:33271:14802,LH00995:48:23YTGFLT4:5:2433:14567:24975,LH00995:48:23YTGFLT4:5:2478:8135:6997,LH00995:48:23YTGFLT4:5:2487:48982:14606,LH00995:48:23YTGFLT4:6:1147:16638:7067,LH00995:48:23YTGFLT4:6:1289:18256:4265,LH00995:48:23YTGFLT4:6:1301:4988:11075,LH00995:48:23YTGFLT4:6:1497:27899:22032,LH00995:48:23YTGFLT4:6:1497:27907:22018,LH00995:48:23YTGFLT4:6:2161:5603:29627,LH00995:48:23YTGFLT4:6:2175:25650:7263,LH00995:48:23YTGFLT4:6:2242:4535:15279,LH00995:48:23YTGFLT4:6:2345:3387:14998,LH00995:48:23YTGFLT4:6:2349:27082:1476,LH00995:48:23YTGFLT4:6:2356:15166:29011,LH00995:48:23YTGFLT4:6:2369:44281:4559,LH00995:48:23YTGFLT4:7:1269:36539:14494,LH00995:48:23YTGFLT4:7:1312:11922:9099,LH00995:48:23YTGFLT4:7:1368:25650:6535,LH00995:48:23YTGFLT4:7:1441:19963:18403,LH00995:48:23YTGFLT4:7:1468:47121:25507,LH00995:48:23YTGFLT4:7:2212:48326:15881,LH00995:48:23YTGFLT4:7:2257:13750:25157,LH00995:48:23YTGFLT4:7:2285:48440:3522,LH00995:48:23YTGFLT4:7:2367:29590:25774,LH00995:48:23YTGFLT4:7:2443:40123:5260,LH00995:48:23YTGFLT4:8:1121:46709:20225,LH00995:48:23YTGFLT4:8:1173:7804:18950,LH00995:48:23YTGFLT4:8:1229:22277:16189,LH00995:48:23YTGFLT4:8:1432:4268:18992,LH00995:48:23YTGFLT4:8:2165:34436:10066,LH00995:48:23YTGFLT4:8:2326:52024:28898,LH00995:48:23YTGFLT4:8:2327:1582:19048,LH00995:48:23YTGFLT4:8:2336:35091:6381,LH00995:48:23YTGFLT4:8:2444:12245:19748,LH00995:48:23YTGFLT4:8:2456:40431:19412,LH00995:48:23YTGFLT4:1:1240:29914:8679,LH00995:48:23YTGFLT4:1:1257:10983:12518,LH00995:48:23YTGFLT4:1:1257:10991:12532,LH00995:48:23YTGFLT4:1:1280:22875:16526,LH00995:48:23YTGFLT4:1:1328:10142:29249,LH00995:48:23YTGFLT4:1:1438:43384:16932,LH00995:48:23YTGFLT4:1:2107:21799:23097,LH00995:48:23YTGFLT4:2:1113:30334:13639,LH00995:48:23YTGFLT4:2:1228:26831:1771,LH00995:48:23YTGFLT4:2:1249:15093:27091,LH00995:48:23YTGFLT4:2:1318:51635:21836,LH00995:48:23YTGFLT4:2:1318:51643:21822,LH00995:48:23YTGFLT4:2:1343:34994:25465,LH00995:48:23YTGFLT4:2:1403:40172:9519,LH00995:48:23YTGFLT4:2:2328:40212:7348,LH00995:48:23YTGFLT4:2:2478:37316:3480,LH00995:48:23YTGFLT4:3:1101:27074:20883,LH00995:48:23YTGFLT4:3:1183:39824:9365,LH00995:48:23YTGFLT4:3:1224:29849:18599,LH00995:48:23YTGFLT4:3:1284:22851:20323,LH00995:48:23YTGFLT4:3:1307:20804:21934,LH00995:48:23YTGFLT4:3:1307:20812:21948,LH00995:48:23YTGFLT4:3:1341:34929:16918,LH00995:48:23YTGFLT4:3:2103:4996:25942,LH00995:48:23YTGFLT4:3:2481:8605:13611,LH00995:48:23YTGFLT4:4:1114:32527:4125,LH00995:48:23YTGFLT4:4:1142:39428:28660,LH00995:48:23YTGFLT4:4:1145:1995:25283,LH00995:48:23YTGFLT4:4:1145:30941:14746,LH00995:48:23YTGFLT4:4:1197:37874:12966,LH00995:48:23YTGFLT4:4:1324:35601:9057,LH00995:48:23YTGFLT4:4:1380:7893:24765,LH00995:48:23YTGFLT4:4:1474:3920:10038,LH00995:48:23YTGFLT4:4:2191:25205:18151,LH00995:48:23YTGFLT4:4:2223:42566:16526,LH00995:48:23YTGFLT4:4:2225:29226:6815,LH00995:48:23YTGFLT4:5:1193:8249:5120,LH00995:48:23YTGFLT4:5:2298:5191:21430,LH00995:48:23YTGFLT4:5:2410:30431:12686,LH00995:48:23YTGFLT4:5:2450:47518:18992,LH00995:48:23YTGFLT4:6:1154:39258:28646,LH00995:48:23YTGFLT4:6:1335:35075:21010,LH00995:48:23YTGFLT4:6:1335:35091:21010,LH00995:48:23YTGFLT4:6:1415:26330:8384,LH00995:48:23YTGFLT4:6:1484:19065:24667,LH00995:48:23YTGFLT4:6:2331:46595:22831,LH00995:48:23YTGFLT4:6:2442:41102:4153,LH00995:48:23YTGFLT4:7:1344:40965:26166,LH00995:48:23YTGFLT4:7:1344:40981:26166,LH00995:48:23YTGFLT4:7:1344:44209:15335,LH00995:48:23YTGFLT4:7:1419:13968:25620,LH00995:48:23YTGFLT4:7:1419:13984:25620,LH00995:48:23YTGFLT4:7:2113:6833:26012,LH00995:48:23YTGFLT4:7:2197:50996:20589,LH00995:48:23YTGFLT4:7:2270:20481:8174,LH00995:48:23YTGFLT4:7:2347:46620:26040,LH00995:48:23YTGFLT4:7:2467:46846:26544,LH00995:48:23YTGFLT4:8:1117:17843:6997,LH00995:48:23YTGFLT4:8:1294:39654:13527,LH00995:48:23YTGFLT4:8:1380:35285:6381,LH00995:48:23YTGFLT4:8:1385:8750:22411,LH00995:48:23YTGFLT4:8:1438:36289:20729,LH00995:48:23YTGFLT4:8:2144:13329:20113,LH00995:48:23YTGFLT4:8:2356:15238:19692
PCDHGB2 PCDHGB7 +/+ +/+ chr5:141362556 chr5:141494807 CDS CDS/splice-site deletion/read-through 26 14 0 274 18228 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(109) GCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN LH00995:48:23YTGFLT4:1:1236:10522:23350,LH00995:48:23YTGFLT4:1:1360:5045:29025,LH00995:48:23YTGFLT4:1:1364:13540:22579,LH00995:48:23YTGFLT4:1:1370:18879:23588,LH00995:48:23YTGFLT4:1:1406:43553:11817,LH00995:48:23YTGFLT4:1:1466:26815:24387,LH00995:48:23YTGFLT4:1:2130:42672:5694,LH00995:48:23YTGFLT4:1:2235:36547:7502,LH00995:48:23YTGFLT4:1:2235:36564:7502,LH00995:48:23YTGFLT4:1:2250:27729:25774,LH00995:48:23YTGFLT4:1:2286:37680:13359,LH00995:48:23YTGFLT4:1:2295:29097:20855,LH00995:48:23YTGFLT4:1:2426:10967:26783,LH00995:48:23YTGFLT4:1:2460:44435:12196,LH00995:48:23YTGFLT4:2:1169:3257:17296,LH00995:48:23YTGFLT4:2:1169:49815:1869,LH00995:48:23YTGFLT4:2:1178:36790:14564,LH00995:48:23YTGFLT4:2:1193:14802:1448,LH00995:48:23YTGFLT4:2:1291:16638:29263,LH00995:48:23YTGFLT4:2:1482:43173:18726,LH00995:48:23YTGFLT4:2:2215:11282:8244,LH00995:48:23YTGFLT4:2:2268:40746:2387,LH00995:48:23YTGFLT4:2:2396:6574:11972,LH00995:48:23YTGFLT4:3:1237:28174:12981,LH00995:48:23YTGFLT4:3:1337:50163:2920,LH00995:48:23YTGFLT4:3:1380:16274:21262,LH00995:48:23YTGFLT4:3:2201:26168:22789,LH00995:48:23YTGFLT4:3:2289:44071:1560,LH00995:48:23YTGFLT4:3:2384:24801:16021,LH00995:48:23YTGFLT4:3:2384:26718:23546,LH00995:48:23YTGFLT4:4:1120:2683:24737,LH00995:48:23YTGFLT4:4:1130:25869:12378,LH00995:48:23YTGFLT4:4:1134:27907:16273,LH00995:48:23YTGFLT4:4:1134:30682:20827,LH00995:48:23YTGFLT4:4:1146:51360:24863,LH00995:48:23YTGFLT4:4:1247:48812:10416,LH00995:48:23YTGFLT4:4:1272:39379:28604,LH00995:48:23YTGFLT4:4:1413:11339:18011,LH00995:48:23YTGFLT4:4:2125:17277:7866,LH00995:48:23YTGFLT4:4:2145:50033:3648,LH00995:48:23YTGFLT4:4:2152:28417:18249,LH00995:48:23YTGFLT4:4:2168:42445:1546,LH00995:48:23YTGFLT4:4:2238:9203:9211,LH00995:48:23YTGFLT4:4:2238:9211:9225,LH00995:48:23YTGFLT4:4:2255:3678:1603,LH00995:48:23YTGFLT4:5:1106:36070:14045,LH00995:48:23YTGFLT4:5:1283:1138:11747,LH00995:48:23YTGFLT4:5:1459:10684:11775,LH00995:48:23YTGFLT4:5:2320:29841:1070,LH00995:48:23YTGFLT4:5:2411:33271:14802,LH00995:48:23YTGFLT4:5:2433:14567:24975,LH00995:48:23YTGFLT4:5:2478:8135:6997,LH00995:48:23YTGFLT4:5:2487:48982:14606,LH00995:48:23YTGFLT4:6:1147:16638:7067,LH00995:48:23YTGFLT4:6:1289:18256:4265,LH00995:48:23YTGFLT4:6:1301:4988:11075,LH00995:48:23YTGFLT4:6:1497:27899:22032,LH00995:48:23YTGFLT4:6:1497:27907:22018,LH00995:48:23YTGFLT4:6:2161:5603:29627,LH00995:48:23YTGFLT4:6:2175:25650:7263,LH00995:48:23YTGFLT4:6:2242:4535:15279,LH00995:48:23YTGFLT4:6:2345:3387:14998,LH00995:48:23YTGFLT4:6:2349:27082:1476,LH00995:48:23YTGFLT4:6:2356:15166:29011,LH00995:48:23YTGFLT4:6:2369:44281:4559,LH00995:48:23YTGFLT4:7:1269:36539:14494,LH00995:48:23YTGFLT4:7:1312:11922:9099,LH00995:48:23YTGFLT4:7:1368:25650:6535,LH00995:48:23YTGFLT4:7:1441:19963:18403,LH00995:48:23YTGFLT4:7:1468:47121:25507,LH00995:48:23YTGFLT4:7:2212:48326:15881,LH00995:48:23YTGFLT4:7:2257:13750:25157,LH00995:48:23YTGFLT4:7:2285:48440:3522,LH00995:48:23YTGFLT4:7:2367:29590:25774,LH00995:48:23YTGFLT4:7:2443:40123:5260,LH00995:48:23YTGFLT4:8:1121:46709:20225,LH00995:48:23YTGFLT4:8:1173:7804:18950,LH00995:48:23YTGFLT4:8:1229:22277:16189,LH00995:48:23YTGFLT4:8:1432:4268:18992,LH00995:48:23YTGFLT4:8:2165:34436:10066,LH00995:48:23YTGFLT4:8:2326:52024:28898,LH00995:48:23YTGFLT4:8:2327:1582:19048,LH00995:48:23YTGFLT4:8:2336:35091:6381,LH00995:48:23YTGFLT4:8:2444:12245:19748,LH00995:48:23YTGFLT4:8:2456:40431:19412,LH00995:48:23YTGFLT4:1:1240:29914:8679,LH00995:48:23YTGFLT4:1:1257:10983:12518,LH00995:48:23YTGFLT4:1:1257:10991:12532,LH00995:48:23YTGFLT4:1:1280:22875:16526,LH00995:48:23YTGFLT4:1:1328:10142:29249,LH00995:48:23YTGFLT4:1:1438:43384:16932,LH00995:48:23YTGFLT4:1:2107:21799:23097,LH00995:48:23YTGFLT4:2:1113:30334:13639,LH00995:48:23YTGFLT4:2:1228:26831:1771,LH00995:48:23YTGFLT4:2:1249:15093:27091,LH00995:48:23YTGFLT4:2:1318:51635:21836,LH00995:48:23YTGFLT4:2:1318:51643:21822,LH00995:48:23YTGFLT4:2:1343:34994:25465,LH00995:48:23YTGFLT4:2:1403:40172:9519,LH00995:48:23YTGFLT4:2:2328:40212:7348,LH00995:48:23YTGFLT4:2:2478:37316:3480,LH00995:48:23YTGFLT4:3:1101:27074:20883,LH00995:48:23YTGFLT4:3:1183:39824:9365,LH00995:48:23YTGFLT4:3:1224:29849:18599,LH00995:48:23YTGFLT4:3:1284:22851:20323,LH00995:48:23YTGFLT4:3:1307:20804:21934,LH00995:48:23YTGFLT4:3:1307:20812:21948,LH00995:48:23YTGFLT4:3:1341:34929:16918,LH00995:48:23YTGFLT4:3:2103:4996:25942,LH00995:48:23YTGFLT4:3:2481:8605:13611,LH00995:48:23YTGFLT4:4:1114:32527:4125,LH00995:48:23YTGFLT4:4:1142:39428:28660,LH00995:48:23YTGFLT4:4:1145:1995:25283,LH00995:48:23YTGFLT4:4:1145:30941:14746,LH00995:48:23YTGFLT4:4:1197:37874:12966,LH00995:48:23YTGFLT4:4:1324:35601:9057,LH00995:48:23YTGFLT4:4:1380:7893:24765,LH00995:48:23YTGFLT4:4:1474:3920:10038,LH00995:48:23YTGFLT4:4:2191:25205:18151,LH00995:48:23YTGFLT4:4:2223:42566:16526,LH00995:48:23YTGFLT4:4:2225:29226:6815,LH00995:48:23YTGFLT4:5:1193:8249:5120,LH00995:48:23YTGFLT4:5:2298:5191:21430,LH00995:48:23YTGFLT4:5:2410:30431:12686,LH00995:48:23YTGFLT4:5:2450:47518:18992,LH00995:48:23YTGFLT4:6:1154:39258:28646,LH00995:48:23YTGFLT4:6:1335:35075:21010,LH00995:48:23YTGFLT4:6:1335:35091:21010,LH00995:48:23YTGFLT4:6:1415:26330:8384,LH00995:48:23YTGFLT4:6:1484:19065:24667,LH00995:48:23YTGFLT4:6:2331:46595:22831,LH00995:48:23YTGFLT4:6:2442:41102:4153,LH00995:48:23YTGFLT4:7:1344:40965:26166,LH00995:48:23YTGFLT4:7:1344:40981:26166,LH00995:48:23YTGFLT4:7:1344:44209:15335,LH00995:48:23YTGFLT4:7:1419:13968:25620,LH00995:48:23YTGFLT4:7:1419:13984:25620,LH00995:48:23YTGFLT4:7:2113:6833:26012,LH00995:48:23YTGFLT4:7:2197:50996:20589,LH00995:48:23YTGFLT4:7:2270:20481:8174,LH00995:48:23YTGFLT4:7:2347:46620:26040,LH00995:48:23YTGFLT4:7:2467:46846:26544,LH00995:48:23YTGFLT4:8:1117:17843:6997,LH00995:48:23YTGFLT4:8:1294:39654:13527,LH00995:48:23YTGFLT4:8:1380:35285:6381,LH00995:48:23YTGFLT4:8:1385:8750:22411,LH00995:48:23YTGFLT4:8:1438:36289:20729,LH00995:48:23YTGFLT4:8:2144:13329:20113,LH00995:48:23YTGFLT4:8:2356:15238:19692
PCDHGB2 PCDHGA12 +/+ +/+ chr5:141362556 chr5:141494807 CDS CDS/splice-site deletion/read-through 26 14 0 274 18228 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(109) GCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN LH00995:48:23YTGFLT4:1:1236:10522:23350,LH00995:48:23YTGFLT4:1:1360:5045:29025,LH00995:48:23YTGFLT4:1:1364:13540:22579,LH00995:48:23YTGFLT4:1:1370:18879:23588,LH00995:48:23YTGFLT4:1:1406:43553:11817,LH00995:48:23YTGFLT4:1:1466:26815:24387,LH00995:48:23YTGFLT4:1:2130:42672:5694,LH00995:48:23YTGFLT4:1:2235:36547:7502,LH00995:48:23YTGFLT4:1:2235:36564:7502,LH00995:48:23YTGFLT4:1:2250:27729:25774,LH00995:48:23YTGFLT4:1:2286:37680:13359,LH00995:48:23YTGFLT4:1:2295:29097:20855,LH00995:48:23YTGFLT4:1:2426:10967:26783,LH00995:48:23YTGFLT4:1:2460:44435:12196,LH00995:48:23YTGFLT4:2:1169:3257:17296,LH00995:48:23YTGFLT4:2:1169:49815:1869,LH00995:48:23YTGFLT4:2:1178:36790:14564,LH00995:48:23YTGFLT4:2:1193:14802:1448,LH00995:48:23YTGFLT4:2:1291:16638:29263,LH00995:48:23YTGFLT4:2:1482:43173:18726,LH00995:48:23YTGFLT4:2:2215:11282:8244,LH00995:48:23YTGFLT4:2:2268:40746:2387,LH00995:48:23YTGFLT4:2:2396:6574:11972,LH00995:48:23YTGFLT4:3:1237:28174:12981,LH00995:48:23YTGFLT4:3:1337:50163:2920,LH00995:48:23YTGFLT4:3:1380:16274:21262,LH00995:48:23YTGFLT4:3:2201:26168:22789,LH00995:48:23YTGFLT4:3:2289:44071:1560,LH00995:48:23YTGFLT4:3:2384:24801:16021,LH00995:48:23YTGFLT4:3:2384:26718:23546,LH00995:48:23YTGFLT4:4:1120:2683:24737,LH00995:48:23YTGFLT4:4:1130:25869:12378,LH00995:48:23YTGFLT4:4:1134:27907:16273,LH00995:48:23YTGFLT4:4:1134:30682:20827,LH00995:48:23YTGFLT4:4:1146:51360:24863,LH00995:48:23YTGFLT4:4:1247:48812:10416,LH00995:48:23YTGFLT4:4:1272:39379:28604,LH00995:48:23YTGFLT4:4:1413:11339:18011,LH00995:48:23YTGFLT4:4:2125:17277:7866,LH00995:48:23YTGFLT4:4:2145:50033:3648,LH00995:48:23YTGFLT4:4:2152:28417:18249,LH00995:48:23YTGFLT4:4:2168:42445:1546,LH00995:48:23YTGFLT4:4:2238:9203:9211,LH00995:48:23YTGFLT4:4:2238:9211:9225,LH00995:48:23YTGFLT4:4:2255:3678:1603,LH00995:48:23YTGFLT4:5:1106:36070:14045,LH00995:48:23YTGFLT4:5:1283:1138:11747,LH00995:48:23YTGFLT4:5:1459:10684:11775,LH00995:48:23YTGFLT4:5:2320:29841:1070,LH00995:48:23YTGFLT4:5:2411:33271:14802,LH00995:48:23YTGFLT4:5:2433:14567:24975,LH00995:48:23YTGFLT4:5:2478:8135:6997,LH00995:48:23YTGFLT4:5:2487:48982:14606,LH00995:48:23YTGFLT4:6:1147:16638:7067,LH00995:48:23YTGFLT4:6:1289:18256:4265,LH00995:48:23YTGFLT4:6:1301:4988:11075,LH00995:48:23YTGFLT4:6:1497:27899:22032,LH00995:48:23YTGFLT4:6:1497:27907:22018,LH00995:48:23YTGFLT4:6:2161:5603:29627,LH00995:48:23YTGFLT4:6:2175:25650:7263,LH00995:48:23YTGFLT4:6:2242:4535:15279,LH00995:48:23YTGFLT4:6:2345:3387:14998,LH00995:48:23YTGFLT4:6:2349:27082:1476,LH00995:48:23YTGFLT4:6:2356:15166:29011,LH00995:48:23YTGFLT4:6:2369:44281:4559,LH00995:48:23YTGFLT4:7:1269:36539:14494,LH00995:48:23YTGFLT4:7:1312:11922:9099,LH00995:48:23YTGFLT4:7:1368:25650:6535,LH00995:48:23YTGFLT4:7:1441:19963:18403,LH00995:48:23YTGFLT4:7:1468:47121:25507,LH00995:48:23YTGFLT4:7:2212:48326:15881,LH00995:48:23YTGFLT4:7:2257:13750:25157,LH00995:48:23YTGFLT4:7:2285:48440:3522,LH00995:48:23YTGFLT4:7:2367:29590:25774,LH00995:48:23YTGFLT4:7:2443:40123:5260,LH00995:48:23YTGFLT4:8:1121:46709:20225,LH00995:48:23YTGFLT4:8:1173:7804:18950,LH00995:48:23YTGFLT4:8:1229:22277:16189,LH00995:48:23YTGFLT4:8:1432:4268:18992,LH00995:48:23YTGFLT4:8:2165:34436:10066,LH00995:48:23YTGFLT4:8:2326:52024:28898,LH00995:48:23YTGFLT4:8:2327:1582:19048,LH00995:48:23YTGFLT4:8:2336:35091:6381,LH00995:48:23YTGFLT4:8:2444:12245:19748,LH00995:48:23YTGFLT4:8:2456:40431:19412,LH00995:48:23YTGFLT4:1:1240:29914:8679,LH00995:48:23YTGFLT4:1:1257:10983:12518,LH00995:48:23YTGFLT4:1:1257:10991:12532,LH00995:48:23YTGFLT4:1:1280:22875:16526,LH00995:48:23YTGFLT4:1:1328:10142:29249,LH00995:48:23YTGFLT4:1:1438:43384:16932,LH00995:48:23YTGFLT4:1:2107:21799:23097,LH00995:48:23YTGFLT4:2:1113:30334:13639,LH00995:48:23YTGFLT4:2:1228:26831:1771,LH00995:48:23YTGFLT4:2:1249:15093:27091,LH00995:48:23YTGFLT4:2:1318:51635:21836,LH00995:48:23YTGFLT4:2:1318:51643:21822,LH00995:48:23YTGFLT4:2:1343:34994:25465,LH00995:48:23YTGFLT4:2:1403:40172:9519,LH00995:48:23YTGFLT4:2:2328:40212:7348,LH00995:48:23YTGFLT4:2:2478:37316:3480,LH00995:48:23YTGFLT4:3:1101:27074:20883,LH00995:48:23YTGFLT4:3:1183:39824:9365,LH00995:48:23YTGFLT4:3:1224:29849:18599,LH00995:48:23YTGFLT4:3:1284:22851:20323,LH00995:48:23YTGFLT4:3:1307:20804:21934,LH00995:48:23YTGFLT4:3:1307:20812:21948,LH00995:48:23YTGFLT4:3:1341:34929:16918,LH00995:48:23YTGFLT4:3:2103:4996:25942,LH00995:48:23YTGFLT4:3:2481:8605:13611,LH00995:48:23YTGFLT4:4:1114:32527:4125,LH00995:48:23YTGFLT4:4:1142:39428:28660,LH00995:48:23YTGFLT4:4:1145:1995:25283,LH00995:48:23YTGFLT4:4:1145:30941:14746,LH00995:48:23YTGFLT4:4:1197:37874:12966,LH00995:48:23YTGFLT4:4:1324:35601:9057,LH00995:48:23YTGFLT4:4:1380:7893:24765,LH00995:48:23YTGFLT4:4:1474:3920:10038,LH00995:48:23YTGFLT4:4:2191:25205:18151,LH00995:48:23YTGFLT4:4:2223:42566:16526,LH00995:48:23YTGFLT4:4:2225:29226:6815,LH00995:48:23YTGFLT4:5:1193:8249:5120,LH00995:48:23YTGFLT4:5:2298:5191:21430,LH00995:48:23YTGFLT4:5:2410:30431:12686,LH00995:48:23YTGFLT4:5:2450:47518:18992,LH00995:48:23YTGFLT4:6:1154:39258:28646,LH00995:48:23YTGFLT4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PCDHGB2 PCDHGC3 +/+ +/+ chr5:141362556 chr5:141494807 CDS CDS/splice-site deletion/read-through 26 14 0 274 18228 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(109) GCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC AKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN LH00995:48:23YTGFLT4:1:1236:10522:23350,LH00995:48:23YTGFLT4:1:1360:5045:29025,LH00995:48:23YTGFLT4:1:1364:13540:22579,LH00995:48:23YTGFLT4:1:1370:18879:23588,LH00995:48:23YTGFLT4:1:1406:43553:11817,LH00995:48:23YTGFLT4:1:1466:26815:24387,LH00995:48:23YTGFLT4:1:2130:42672:5694,LH00995:48:23YTGFLT4:1:2235:36547:7502,LH00995:48:23YTGFLT4:1:2235:36564:7502,LH00995:48:23YTGFLT4:1:2250:27729:25774,LH00995:48:23YTGFLT4:1:2286:37680:13359,LH00995:48:23YTGFLT4:1:2295:29097:20855,LH00995:48:23YTGFLT4:1:2426:10967:26783,LH00995:48:23YTGFLT4:1:2460:44435:12196,LH00995:48:23YTGFLT4:2:1169:3257:17296,LH00995:48:23YTGFLT4:2:1169:49815:1869,LH00995:48:23YTGFLT4:2:1178:36790:14564,LH00995:48:23YTGFLT4:2:1193:14802:1448,LH00995:48:23YTGFLT4:2:1291:16638:29263,LH00995:48:23YTGFLT4:2:1482:43173:18726,LH00995:48:23YTGFLT4:2:2215:11282:8244,LH00995:48:23YTGFLT4:2:2268:40746:2387,LH00995:48:23YTGFLT4:2:2396:6574:11972,LH00995:48:23YTGFLT4:3:1237:28174:12981,LH00995:48:23YTGFLT4:3:1337:50163:2920,LH00995:48:23YTGFLT4:3:1380:16274:21262,LH00995:48:23YTGFLT4:3:2201:26168:22789,LH00995:48:23YTGFLT4:3:2289:44071:1560,LH00995:48:23YTGFLT4:3:2384:24801:16021,LH00995:48:23YTGFLT4:3:2384:26718:23546,LH00995:48:23YTGFLT4:4:1120:2683:24737,LH00995:48:23YTGFLT4:4:1130:25869:12378,LH00995:48:23YTGFLT4:4:1134:27907:16273,LH00995:48:23YTGFLT4:4:1134:30682:20827,LH00995:48:23YTGFLT4:4:1146:51360:24863,LH00995:48:23YTGFLT4:4:1247:48812:10416,LH00995:48:23YTGFLT4:4:1272:39379:28604,LH00995:48:23YTGFLT4:4:1413:11339:18011,LH00995:48:23YTGFLT4:4:2125:17277:7866,LH00995:48:23YTGFLT4:4:2145:50033:3648,LH00995:48:23YTGFLT4:4:2152:28417:18249,LH00995:48:23YTGFLT4:4:2168:42445:1546,LH00995:48:23YTGFLT4:4:2238:9203:9211,LH00995:48:23YTGFLT4:4:2238:9211:9225,LH00995:48:23YTGFLT4:4:2255:3678:1603,LH00995:48:23YTGFLT4:5:1106:36070:14045,LH00995:48:23YTGFLT4:5:1283:1138:11747,LH00995:48:23YTGFLT4:5:1459:10684:11775,LH00995:48:23YTGFLT4:5:2320:29841:1070,LH00995:48:23YTGFLT4:5:2411:33271:14802,LH00995:48:23YTGFLT4:5:2433:14567:24975,LH00995:48:23YTGFLT4:5:2478:8135:6997,LH00995:48:23YTGFLT4:5:2487:48982:14606,LH00995:48:23YTGFLT4:6:1147:16638:7067,LH00995:48:23YTGFLT4:6:1289:18256:4265,LH00995:48:23YTGFLT4:6:1301:4988:11075,LH00995:48:23YTGFLT4:6:1497:27899:22032,LH00995:48:23YTGFLT4:6:1497:27907:22018,LH00995:48:23YTGFLT4:6:2161:5603:29627,LH00995:48:23YTGFLT4:6:2175:25650:7263,LH00995:48:23YTGFLT4:6:2242:4535:15279,LH00995:48:23YTGFLT4:6:2345:3387:14998,LH00995:48:23YTGFLT4:6:2349:27082:1476,LH00995:48:23YTGFLT4:6:2356:15166:29011,LH00995:48:23YTGFLT4:6:2369:44281:4559,LH00995:48:23YTGFLT4:7:1269:36539:14494,LH00995:48:23YTGFLT4:7:1312:11922:9099,LH00995:48:23YTGFLT4:7:1368:25650:6535,LH00995:48:23YTGFLT4:7:1441:19963:18403,LH00995:48:23YTGFLT4:7:1468:47121:25507,LH00995:48:23YTGFLT4:7:2212:48326:15881,LH00995:48:23YTGFLT4:7:2257:13750:25157,LH00995:48:23YTGFLT4:7:2285:48440:3522,LH00995:48:23YTGFLT4:7:2367:29590:25774,LH00995:48:23YTGFLT4:7:2443:40123:5260,LH00995:48:23YTGFLT4:8:1121:46709:20225,LH00995:48:23YTGFLT4:8:1173:7804:18950,LH00995:48:23YTGFLT4:8:1229:22277:16189,LH00995:48:23YTGFLT4:8:1432:4268:18992,LH00995:48:23YTGFLT4:8:2165:34436:10066,LH00995:48:23YTGFLT4:8:2326:52024:28898,LH00995:48:23YTGFLT4:8:2327:1582:19048,LH00995:48:23YTGFLT4:8:2336:35091:6381,LH00995:48:23YTGFLT4:8:2444:12245:19748,LH00995:48:23YTGFLT4:8:2456:40431:19412,LH00995:48:23YTGFLT4:1:1240:29914:8679,LH00995:48:23YTGFLT4:1:1257:10983:12518,LH00995:48:23YTGFLT4:1:1257:10991:12532,LH00995:48:23YTGFLT4:1:1280:22875:16526,LH00995:48:23YTGFLT4:1:1328:10142:29249,LH00995:48:23YTGFLT4:1:1438:43384:16932,LH00995:48:23YTGFLT4:1:2107:21799:23097,LH00995:48:23YTGFLT4:2:1113:30334:13639,LH00995:48:23YTGFLT4:2:1228:26831:1771,LH00995:48:23YTGFLT4:2:1249:15093:27091,LH00995:48:23YTGFLT4:2:1318:51635:21836,LH00995:48:23YTGFLT4:2:1318:51643:21822,LH00995:48:23YTGFLT4:2:1343:34994:25465,LH00995:48:23YTGFLT4:2:1403:40172:9519,LH00995:48:23YTGFLT4:2:2328:40212:7348,LH00995:48:23YTGFLT4:2:2478:37316:3480,LH00995:48:23YTGFLT4:3:1101:27074:20883,LH00995:48:23YTGFLT4:3:1183:39824:9365,LH00995:48:23YTGFLT4:3:1224:29849:18599,LH00995:48:23YTGFLT4:3:1284:22851:20323,LH00995:48:23YTGFLT4:3:1307:20804:21934,LH00995:48:23YTGFLT4:3:1307:20812:21948,LH00995:48:23YTGFLT4:3:1341:34929:16918,LH00995:48:23YTGFLT4:3:2103:4996:25942,LH00995:48:23YTGFLT4:3:2481:8605:13611,LH00995:48:23YTGFLT4:4:1114:32527:4125,LH00995:48:23YTGFLT4:4:1142:39428:28660,LH00995:48:23YTGFLT4:4:1145:1995:25283,LH00995:48:23YTGFLT4:4:1145:30941:14746,LH00995:48:23YTGFLT4:4:1197:37874:12966,LH00995:48:23YTGFLT4:4:1324:35601:9057,LH00995:48:23YTGFLT4:4:1380:7893:24765,LH00995:48:23YTGFLT4:4:1474:3920:10038,LH00995:48:23YTGFLT4:4:2191:25205:18151,LH00995:48:23YTGFLT4:4:2223:42566:16526,LH00995:48:23YTGFLT4:4:2225:29226:6815,LH00995:48:23YTGFLT4:5:1193:8249:5120,LH00995:48:23YTGFLT4:5:2298:5191:21430,LH00995:48:23YTGFLT4:5:2410:30431:12686,LH00995:48:23YTGFLT4:5:2450:47518:18992,LH00995:48:23YTGFLT4:6:1154:39258:28646,LH00995:48:23YTGFLT4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FP671120.4 PTTG1IP +/- -/- chr21:8214654 chr21:44855254 intron CDS/splice-site duplication/3'-3' 0 29 0 65535 26884 medium . . . . . ENSG00000278996.1 ENSG00000183255.12 . ENST00000330938.8 upstream downstream duplicates(36),mismatches(35) GGGAGGAGGAGGACGGACGGACGGACGGA|GAGCAGAGATGAAGACAAGACATGATGAAATCAGAAAAAAATATG___GCCTGTTTAAAGAAGAAAACCCGTATGCTAGATTTGAAAACAACTAAAGCGCTCCAGCACATCAGTCCCGACGCTTCCTGTGAGGTGCACaCTCCGCAGCCCAGCCC . LH00995:48:23YTGFLT4:1:1122:14122:18263,LH00995:48:23YTGFLT4:1:1191:19882:14059,LH00995:48:23YTGFLT4:1:1250:3775:3340,LH00995:48:23YTGFLT4:1:1279:50462:27343,LH00995:48:23YTGFLT4:1:1386:18636:14536,LH00995:48:23YTGFLT4:1:2132:40495:15797,LH00995:48:23YTGFLT4:1:2134:21710:3298,LH00995:48:23YTGFLT4:1:2147:46531:14424,LH00995:48:23YTGFLT4:1:2225:20109:10528,LH00995:48:23YTGFLT4:1:2303:48432:21612,LH00995:48:23YTGFLT4:1:2373:33530:12560,LH00995:48:23YTGFLT4:1:2376:6712:27483,LH00995:48:23YTGFLT4:1:2392:3427:8819,LH00995:48:23YTGFLT4:1:2494:42575:16764,LH00995:48:23YTGFLT4:2:1327:7901:9169,LH00995:48:23YTGFLT4:2:1467:42906:25634,LH00995:48:23YTGFLT4:2:2118:30237:2822,LH00995:48:23YTGFLT4:2:2138:47615:18431,LH00995:48:23YTGFLT4:2:2151:22568:1981,LH00995:48:23YTGFLT4:2:2231:50179:20827,LH00995:48:23YTGFLT4:2:2303:39929:5484,LH00995:48:23YTGFLT4:2:2356:4285:2093,LH00995:48:23YTGFLT4:2:2440:6598:10304,LH00995:48:23YTGFLT4:2:2448:9236:24765,LH00995:48:23YTGFLT4:2:2485:23838:17633,LH00995:48:23YTGFLT4:3:1107:33441:9379,LH00995:48:23YTGFLT4:3:1135:38877:7698,LH00995:48:23YTGFLT4:3:1237:9495:10472,LH00995:48:23YTGFLT4:3:1289:11323:7502,LH00995:48:23YTGFLT4:3:1317:29525:27651,LH00995:48:23YTGFLT4:3:1365:19324:8973,LH00995:48:23YTGFLT4:3:1447:8920:20127,LH00995:48:23YTGFLT4:3:2266:34517:8861,LH00995:48:23YTGFLT4:3:2444:34201:14704,LH00995:48:23YTGFLT4:4:1143:51109:16301,LH00995:48:23YTGFLT4:4:1228:43529:19454,LH00995:48:23YTGFLT4:4:1271:35827:22173,LH00995:48:23YTGFLT4:4:1284:49896:28324,LH00995:48:23YTGFLT4:4:1297:47283:21808,LH00995:48:23YTGFLT4:4:1342:48763:7922,LH00995:48:23YTGFLT4:4:1460:8467:22257,LH00995:48:23YTGFLT4:4:1483:20869:11033,LH00995:48:23YTGFLT4:4:2126:10910:9085,LH00995:48:23YTGFLT4:4:2147:22471:12406,LH00995:48:23YTGFLT4:4:2165:40576:4923,LH00995:48:23YTGFLT4:4:2178:40803:6465,LH00995:48:23YTGFLT4:4:2307:26653:2247,LH00995:48:23YTGFLT4:4:2313:3023:8062,LH00995:48:23YTGFLT4:4:2358:30617:20239,LH00995:48:23YTGFLT4:4:2431:1299:10290,LH00995:48:23YTGFLT4:4:2489:29631:23742,LH00995:48:23YTGFLT4:4:2496:19550:25395,LH00995:48:23YTGFLT4:5:1140:47323:25830,LH00995:48:23YTGFLT4:5:1146:22681:2317,LH00995:48:23YTGFLT4:5:1438:30164:15727,LH00995:48:23YTGFLT4:5:2368:43286:1799,LH00995:48:23YTGFLT4:5:2380:31208:10725,LH00995:48:23YTGFLT4:5:2417:37348:10402,LH00995:48:23YTGFLT4:6:1240:27729:23756,LH00995:48:23YTGFLT4:6:1318:11355:3158,LH00995:48:23YTGFLT4:6:1493:29444:14536,LH00995:48:23YTGFLT4:6:2341:32462:2163,LH00995:48:23YTGFLT4:6:2356:50923:21640,LH00995:48:23YTGFLT4:6:2402:45430:22159,LH00995:48:23YTGFLT4:6:2443:14316:6044,LH00995:48:23YTGFLT4:6:2488:15578:24232,LH00995:48:23YTGFLT4:7:1206:5304:18403,LH00995:48:23YTGFLT4:7:1280:8629:20127,LH00995:48:23YTGFLT4:7:1284:15303:10668,LH00995:48:23YTGFLT4:7:1292:45592:8707,LH00995:48:23YTGFLT4:7:1486:15093:9435,LH00995:48:23YTGFLT4:7:1486:15101:9421,LH00995:48:23YTGFLT4:7:2257:29873:23322,LH00995:48:23YTGFLT4:7:2308:31249:11635,LH00995:48:23YTGFLT4:7:2316:49265:28856,LH00995:48:23YTGFLT4:7:2340:17390:11117,LH00995:48:23YTGFLT4:7:2357:32535:11986,LH00995:48:23YTGFLT4:7:2358:26168:6619,LH00995:48:23YTGFLT4:8:1138:38983:3816,LH00995:48:23YTGFLT4:8:1193:30812:28702,LH00995:48:23YTGFLT4:8:1305:40617:15194,LH00995:48:23YTGFLT4:8:1305:40633:15194,LH00995:48:23YTGFLT4:8:1325:11590:25367,LH00995:48:23YTGFLT4:8:1326:7553:7278,LH00995:48:23YTGFLT4:8:1338:7812:2653,LH00995:48:23YTGFLT4:8:1361:17835:11579,LH00995:48:23YTGFLT4:8:1443:14098:11159,LH00995:48:23YTGFLT4:8:1443:14106:11145,LH00995:48:23YTGFLT4:8:2130:3055:21430,LH00995:48:23YTGFLT4:8:2140:21039:29431,LH00995:48:23YTGFLT4:8:2175:47857:8006,LH00995:48:23YTGFLT4:8:2339:22487:24485,LH00995:48:23YTGFLT4:8:2364:24866:21514
PLEC FP236383.3 -/- +/+ chr8:143917090 chr21:8397691 CDS intron translocation 22 0 2 17882 15838 medium out-of-frame . Calponin_homology_(CH)_domain(100%),Plectin/S10_domain(100%),Plectin_repeat(88%),SH3_domain(100%),Spectrin_like_domain(100%)| . . ENSG00000178209.16 ENSG00000280441.3 ENST00000436759.6 . upstream upstream duplicates(17) TCGACCGCCGCTCCGGGCGCCAGTACGACATCGATGATGCCATCGCCAAGAACCTCATCGACCGCTCGGCACTGGACCAGTACCGCGCCGGCACGCTCTCCATCACCGAGTTCGCCGACATGCTCTCGGGCAACGCCGGTGGTTTCCG|TCCGTCCGTCCGTCCGTCCTCCTCCTCCC DRRSGRQYDIDDAIAKNLIDRSALDQYRAGTLSITEFADMLSGNAGGFr|psvrpssss LH00995:48:23YTGFLT4:1:1125:40301:18992,LH00995:48:23YTGFLT4:1:2207:32260:27427,LH00995:48:23YTGFLT4:1:2390:7415:26376,LH00995:48:23YTGFLT4:1:2424:48731:19524,LH00995:48:23YTGFLT4:2:2285:16581:7754,LH00995:48:23YTGFLT4:2:2286:28635:27707,LH00995:48:23YTGFLT4:2:2363:43141:29711,LH00995:48:23YTGFLT4:2:2394:25836:21682,LH00995:48:23YTGFLT4:2:2466:28749:3158,LH00995:48:23YTGFLT4:3:1225:47437:11369,LH00995:48:23YTGFLT4:3:1225:47445:11383,LH00995:48:23YTGFLT4:3:1376:36499:7586,LH00995:48:23YTGFLT4:3:2141:48448:2527,LH00995:48:23YTGFLT4:3:2275:45713:23125,LH00995:48:23YTGFLT4:4:1354:16638:10570,LH00995:48:23YTGFLT4:4:1441:20756:15068,LH00995:48:23YTGFLT4:4:2123:47073:16371,LH00995:48:23YTGFLT4:4:2269:31580:18852,LH00995:48:23YTGFLT4:4:2427:50665:15755,LH00995:48:23YTGFLT4:5:1121:48812:13051,LH00995:48:23YTGFLT4:5:1246:31693:14396,LH00995:48:23YTGFLT4:5:1492:48229:16610,LH00995:48:23YTGFLT4:5:2152:7763:22215,LH00995:48:23YTGFLT4:5:2351:3459:23223,LH00995:48:23YTGFLT4:5:2458:47922:14648,LH00995:48:23YTGFLT4:5:2458:47938:14648,LH00995:48:23YTGFLT4:6:1172:17350:12560,LH00995:48:23YTGFLT4:6:1172:17366:12560,LH00995:48:23YTGFLT4:6:1227:2197:25942,LH00995:48:23YTGFLT4:6:1374:36847:11972,LH00995:48:23YTGFLT4:6:2287:47720:14438,LH00995:48:23YTGFLT4:7:1451:10134:15194,LH00995:48:23YTGFLT4:7:2131:32559:7488,LH00995:48:23YTGFLT4:7:2237:6372:9688,LH00995:48:23YTGFLT4:8:1268:11266:11832,LH00995:48:23YTGFLT4:8:2148:41757:23532,LH00995:48:23YTGFLT4:8:2440:20246:10178,LH00995:48:23YTGFLT4:8:2450:15441:7852,LH00995:48:23YTGFLT4:6:1326:39800:21962,LH00995:48:23YTGFLT4:6:1356:12787:29739,LH00995:48:23YTGFLT4:6:2101:39508:2429
TLK2P1 AC110079.1 -/- +/+ chr17:34039043 chr4:118595912 exon exon/splice-site translocation 23 0 0 499 501 medium . . . . . ENSG00000226049.3 ENSG00000260404.3 ENST00000530992.1 ENST00000567913.2 upstream upstream duplicates(32),mismatches(5) TTATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATC . LH00995:48:23YTGFLT4:5:2224:14098:12336,LH00995:48:23YTGFLT4:6:2245:21007:21696,LH00995:48:23YTGFLT4:8:2209:50155:4727,LH00995:48:23YTGFLT4:1:1133:9414:4839,LH00995:48:23YTGFLT4:1:1282:34064:27469,LH00995:48:23YTGFLT4:1:1359:26354:4363,LH00995:48:23YTGFLT4:1:1463:51563:17955,LH00995:48:23YTGFLT4:1:2283:6873:7193,LH00995:48:23YTGFLT4:1:2358:27098:21458,LH00995:48:23YTGFLT4:2:1463:38675:26572,LH00995:48:23YTGFLT4:2:2156:9689:29277,LH00995:48:23YTGFLT4:2:2312:7521:11397,LH00995:48:23YTGFLT4:2:2378:9373:5722,LH00995:48:23YTGFLT4:3:1397:41240:25493,LH00995:48:23YTGFLT4:3:1458:50818:25998,LH00995:48:23YTGFLT4:3:2120:7601:10977,LH00995:48:23YTGFLT4:3:2282:5417:1953,LH00995:48:23YTGFLT4:3:2429:42105:28926,LH00995:48:23YTGFLT4:3:2429:42121:28926,LH00995:48:23YTGFLT4:3:2430:41992:3032,LH00995:48:23YTGFLT4:4:1259:30795:21612,LH00995:48:23YTGFLT4:4:1382:5344:11103,LH00995:48:23YTGFLT4:4:1392:27665:27679,LH00995:48:23YTGFLT4:4:1420:46037:12644,LH00995:48:23YTGFLT4:4:2111:14607:7109,LH00995:48:23YTGFLT4:4:2125:15942:10711,LH00995:48:23YTGFLT4:4:2192:42413:20379,LH00995:48:23YTGFLT4:4:2215:31532:15349,LH00995:48:23YTGFLT4:4:2261:44006:1448,LH00995:48:23YTGFLT4:4:2287:4592:29025,LH00995:48:23YTGFLT4:4:2317:32341:4419,LH00995:48:23YTGFLT4:4:2405:1097:23392,LH00995:48:23YTGFLT4:4:2429:29404:28226,LH00995:48:23YTGFLT4:5:1181:19413:21402,LH00995:48:23YTGFLT4:5:1235:41547:9295,LH00995:48:23YTGFLT4:5:1267:39775:18950,LH00995:48:23YTGFLT4:5:1349:15311:24387,LH00995:48:23YTGFLT4:5:2140:44646:28366,LH00995:48:23YTGFLT4:5:2174:44184:29613,LH00995:48:23YTGFLT4:5:2181:11331:23602,LH00995:48:23YTGFLT4:5:2335:47728:28520,LH00995:48:23YTGFLT4:5:2376:39533:11131,LH00995:48:23YTGFLT4:5:2477:10255:21038,LH00995:48:23YTGFLT4:6:2192:11574:18754,LH00995:48:23YTGFLT4:6:2271:38602:11677,LH00995:48:23YTGFLT4:6:2497:18086:6241,LH00995:48:23YTGFLT4:7:1149:45786:13023,LH00995:48:23YTGFLT4:7:1157:44120:3270,LH00995:48:23YTGFLT4:7:1159:43990:24569,LH00995:48:23YTGFLT4:7:1159:44006:24569,LH00995:48:23YTGFLT4:7:1229:51740:20393,LH00995:48:23YTGFLT4:7:1280:36790:5176,LH00995:48:23YTGFLT4:7:1364:13823:4853,LH00995:48:23YTGFLT4:7:1497:50284:7193,LH00995:48:23YTGFLT4:7:2127:5239:14144,LH00995:48:23YTGFLT4:8:1272:45414:18599,LH00995:48:23YTGFLT4:8:1461:36361:28226,LH00995:48:23YTGFLT4:8:2357:31321:7894,LH00995:48:23YTGFLT4:8:2383:34970:8384,LH00995:48:23YTGFLT4:8:2423:22794:27707
MPND MPND +/+ +/+ chr19:4343662 chr19:4343647 CDS CDS duplication/ITD 7 10 0 118 166 medium . . |JAB1/Mov34/MPN/PAD-1_ubiquitin_protease(100%),Prokaryotic_homologs_of_the_JAB_domain(100%),Restriction_Enzyme_Adenine_Methylase_Associated(100%) . . ENSG00000008382.16 ENSG00000008382.16 ENST00000596722.5 ENST00000596722.5 downstream upstream duplicates(20),mismappers(1) CGGCGGGCCCAGCGGGGCGGAGGCGCGGGGCGCGGGGCTGCAGGGGCGCGGGGCTGCAG|GGGCGCGGGGCTGCAGAGCCGTGGGGCGAGCGGCCTCCCTGCAGCCTCTCGCTGTCCGCAGCTCCGGAGCCGCTGTCCCCGGCGGGCGGTGCGGGCGAGGAGGCGCCGGAGGAGGACGAGGACGAAGCGGA . LH00995:48:23YTGFLT4:2:2149:33417:25732,LH00995:48:23YTGFLT4:2:2317:17835:24947,LH00995:48:23YTGFLT4:2:2317:17835:24947,LH00995:48:23YTGFLT4:3:1222:14316:3130,LH00995:48:23YTGFLT4:3:1466:7779:22215,LH00995:48:23YTGFLT4:3:1483:27891:7586,LH00995:48:23YTGFLT4:3:1483:27891:7586,LH00995:48:23YTGFLT4:3:2303:45544:20785,LH00995:48:23YTGFLT4:3:2303:45544:20785,LH00995:48:23YTGFLT4:3:2363:41474:2611,LH00995:48:23YTGFLT4:3:2496:35738:16161,LH00995:48:23YTGFLT4:4:1101:48448:6955,LH00995:48:23YTGFLT4:4:1125:16565:2009,LH00995:48:23YTGFLT4:4:1451:40253:27567,LH00995:48:23YTGFLT4:5:1197:47056:12448,LH00995:48:23YTGFLT4:5:1197:47056:12448,LH00995:48:23YTGFLT4:5:1378:37098:21010,LH00995:48:23YTGFLT4:6:1224:37664:15825,LH00995:48:23YTGFLT4:6:2219:34784:13555,LH00995:48:23YTGFLT4:7:2270:7885:7404,LH00995:48:23YTGFLT4:7:2344:28514:25115,LH00995:48:23YTGFLT4:8:2237:24364:14228,LH00995:48:23YTGFLT4:8:2237:24364:14228,LH00995:48:23YTGFLT4:8:2367:29671:23167,LH00995:48:23YTGFLT4:2:2149:33417:25732,LH00995:48:23YTGFLT4:3:1222:14316:3130,LH00995:48:23YTGFLT4:3:1466:7779:22215,LH00995:48:23YTGFLT4:3:2363:41474:2611,LH00995:48:23YTGFLT4:3:2496:35738:16161,LH00995:48:23YTGFLT4:4:1101:48448:6955,LH00995:48:23YTGFLT4:4:1125:16565:2009,LH00995:48:23YTGFLT4:4:1451:40253:27567,LH00995:48:23YTGFLT4:5:1378:37098:21010,LH00995:48:23YTGFLT4:6:1224:37664:15825,LH00995:48:23YTGFLT4:6:2219:34784:13555,LH00995:48:23YTGFLT4:7:2270:7885:7404,LH00995:48:23YTGFLT4:7:2344:28514:25115,LH00995:48:23YTGFLT4:8:2367:29671:23167
RNF103 CHMP3 -/- -/- chr2:86620330 chr2:86542312 CDS/splice-site CDS/splice-site deletion/read-through 11 4 0 702 4115 medium in-frame . |Snf7(100%) . . ENSG00000239305.7 ENSG00000115561.16 ENST00000237455.5 ENST00000263856.9 upstream downstream duplicates(13),mismappers(1) TGTCCGGGAGCTGGTGGAAAAGTCAG___GTGACTTGATGGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAGAAGAAAAAGTGAAACGATCTGTGAAAGATGCTGCC VRELVEKSGDLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQREEEKVKRSVKDA LH00995:48:23YTGFLT4:1:2370:11007:27189,LH00995:48:23YTGFLT4:1:2386:49767:18207,LH00995:48:23YTGFLT4:1:2386:49775:18193,LH00995:48:23YTGFLT4:1:2386:49783:18179,LH00995:48:23YTGFLT4:1:2448:41345:22649,LH00995:48:23YTGFLT4:1:2448:41353:22635,LH00995:48:23YTGFLT4:2:1108:16347:10570,LH00995:48:23YTGFLT4:2:2337:4980:4615,LH00995:48:23YTGFLT4:3:2174:38991:18459,LH00995:48:23YTGFLT4:4:1148:3176:14578,LH00995:48:23YTGFLT4:7:2396:22770:26853,LH00995:48:23YTGFLT4:8:1212:35018:23658,LH00995:48:23YTGFLT4:8:2467:45115:3088,LH00995:48:23YTGFLT4:2:2130:35601:10206,LH00995:48:23YTGFLT4:2:2271:23612:18361,LH00995:48:23YTGFLT4:2:2347:29889:28786,LH00995:48:23YTGFLT4:2:2411:50559:28100,LH00995:48:23YTGFLT4:3:2403:5611:10753,LH00995:48:23YTGFLT4:4:2433:39063:18333,LH00995:48:23YTGFLT4:4:2482:11444:11187,LH00995:48:23YTGFLT4:5:2471:8499:14746,LH00995:48:23YTGFLT4:6:1171:46013:15629,LH00995:48:23YTGFLT4:6:1204:8338:29235,LH00995:48:23YTGFLT4:6:1312:8823:27189,LH00995:48:23YTGFLT4:6:2130:27236:28394,LH00995:48:23YTGFLT4:6:2394:12544:12112,LH00995:48:23YTGFLT4:7:2240:27867:15447,LH00995:48:23YTGFLT4:7:2449:9907:18165,LH00995:48:23YTGFLT4:8:1351:6339:10220
TCEAL5 TCEAL5 -/- -/- chrX:103274352 chrX:103274387 CDS CDS duplication/ITD 6 7 0 121 121 medium in-frame . Brain_expressed_X-linked_like_family_(38%)|Brain_expressed_X-linked_like_family_(67%) . . ENSG00000204065.3 ENSG00000204065.3 ENST00000372680.2 ENST00000372680.2 upstream downstream duplicates(21) GGAGGGGAAGACAGAATGCGAGGGAAAGaGAGAGGATGAGGGAGAGCCAGGTGATGAGGGACAACTGGAAGATGAGGGAgA|GCCAGGTGATGAGGGACAACTGGAAGATGAGGGAAAaC EGKTECEGKREDEGEPGDEGQLEDEGe|PGDEGQLEDEGk LH00995:48:23YTGFLT4:3:1191:47453:1476,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:2:1124:12512:24274,LH00995:48:23YTGFLT4:2:2359:51563:2401,LH00995:48:23YTGFLT4:1:2392:28846:25017,LH00995:48:23YTGFLT4:5:1278:15206:29221,LH00995:48:23YTGFLT4:8:1167:23636:20197,LH00995:48:23YTGFLT4:8:1167:23644:20183,LH00995:48:23YTGFLT4:8:1390:5522:4293,LH00995:48:23YTGFLT4:8:2258:15311:4349,LH00995:48:23YTGFLT4:3:1191:47453:1476,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:4:2170:16039:9281,LH00995:48:23YTGFLT4:2:1124:12512:24274,LH00995:48:23YTGFLT4:2:2359:51563:2401,LH00995:48:23YTGFLT4:1:2392:28846:25017,LH00995:48:23YTGFLT4:5:1278:15206:29221,LH00995:48:23YTGFLT4:7:1431:36094:13639,LH00995:48:23YTGFLT4:8:1167:23636:20197,LH00995:48:23YTGFLT4:8:1167:23644:20183,LH00995:48:23YTGFLT4:8:1390:5522:4293,LH00995:48:23YTGFLT4:8:2258:15311:4349
RBM14 RBM4 +/+ +/+ chr11:66617057 chr11:66646027 CDS/splice-site CDS/splice-site deletion/read-through 3 8 0 3238 3104 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(20),low_entropy(1) TGGAGATGTCGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAGACCTTCTCTTCCTTTCCTTTCCTTTCCTCTCCTG EMSRPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG* LH00995:48:23YTGFLT4:1:2167:19081:14186,LH00995:48:23YTGFLT4:1:2265:20885:24260,LH00995:48:23YTGFLT4:5:1163:43505:14760,LH00995:48:23YTGFLT4:5:2334:27737:12504,LH00995:48:23YTGFLT4:5:2388:13289:20407,LH00995:48:23YTGFLT4:5:2402:17916:20267,LH00995:48:23YTGFLT4:6:2244:6857:25297,LH00995:48:23YTGFLT4:7:1169:8014:24358,LH00995:48:23YTGFLT4:7:2137:13175:12812,LH00995:48:23YTGFLT4:8:1430:25594:2261,LH00995:48:23YTGFLT4:8:1452:43141:18025,LH00995:48:23YTGFLT4:8:2378:38408:24008,LH00995:48:23YTGFLT4:1:2317:49888:5190,LH00995:48:23YTGFLT4:2:1218:49993:8763,LH00995:48:23YTGFLT4:2:2240:22099:14704,LH00995:48:23YTGFLT4:2:2261:28142:24358,LH00995:48:23YTGFLT4:2:2320:51522:7796,LH00995:48:23YTGFLT4:3:1132:16767:27806,LH00995:48:23YTGFLT4:3:1178:16929:27385,LH00995:48:23YTGFLT4:3:2228:32939:1645,LH00995:48:23YTGFLT4:4:1147:30197:5274,LH00995:48:23YTGFLT4:4:1405:31435:15040,LH00995:48:23YTGFLT4:5:1455:36523:3452,LH00995:48:23YTGFLT4:5:2254:27568:28688,LH00995:48:23YTGFLT4:5:2254:27584:28688,LH00995:48:23YTGFLT4:5:2436:26920:7726,LH00995:48:23YTGFLT4:6:1452:29841:24050,LH00995:48:23YTGFLT4:7:1244:17220:16091,LH00995:48:23YTGFLT4:7:1373:50697:16596,LH00995:48:23YTGFLT4:7:2442:35779:6927,LH00995:48:23YTGFLT4:8:1136:51506:13513,LH00995:48:23YTGFLT4:8:2248:44637:9688
RBM14 RBM4 +/+ +/+ chr11:66617057 chr11:66643450 CDS/splice-site CDS/splice-site deletion/read-through 2 1 0 3238 2366 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(1) GGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGC GNVSAACTSQELRSLFERRGRVIECDVVK|gKRMHVQLSTSRLRTAPGMGDQ LH00995:48:23YTGFLT4:4:1219:42769:5498,LH00995:48:23YTGFLT4:7:2418:22552:6717,LH00995:48:23YTGFLT4:2:2364:3815:19692,LH00995:48:23YTGFLT4:8:1137:38465:26068
RBM14 RBM4 +/+ +/+ chr11:66617057 chr11:66665856 CDS/splice-site CDS/splice-site deletion/read-through 2 0 0 3238 1148 low in-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(1%) . . ENSG00000239306.5 ENSG00000173933.21 ENST00000310137.5 ENST00000396053.9 downstream upstream duplicates(2) GGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAGATAACCCCTGTGACAGAAGGCTACTGTTGCTGTAACAAAGGGC AACTSQELRSLFERRGRVIECDVVK|gKITPVTEGYCCCNKG LH00995:48:23YTGFLT4:3:1429:50244:25479,LH00995:48:23YTGFLT4:5:1145:1979:2331,LH00995:48:23YTGFLT4:5:2387:40681:6591,LH00995:48:23YTGFLT4:7:1186:43707:22145
RBM14 RBM4 +/+ +/+ chr11:66617057 chr11:66639700 CDS/splice-site 5'UTR/splice-site deletion/read-through 0 0 0 3238 4458 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(265),read_through(335) GGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGT PLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm* 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2187:11646:22803,LH00995:48:23YTGFLT4:3:2188:9664:10795,LH00995:48:23YTGFLT4:3:2189:12876:15349,LH00995:48:23YTGFLT4:3:2191:2569:3943,LH00995:48:23YTGFLT4:3:2194:44217:8651,LH00995:48:23YTGFLT4:3:2213:35609:14228,LH00995:48:23YTGFLT4:3:2217:3953:8132,LH00995:48:23YTGFLT4:3:2228:19567:17016,LH00995:48:23YTGFLT4:3:2235:32211:17871,LH00995:48:23YTGFLT4:3:2246:48326:13723,LH00995:48:23YTGFLT4:3:2248:46118:6227,LH00995:48:23YTGFLT4:3:2256:15611:22187,LH00995:48:23YTGFLT4:3:2261:46207:9491,LH00995:48:23YTGFLT4:3:2264:30456:9113,LH00995:48:23YTGFLT4:3:2271:15303:26166,LH00995:48:23YTGFLT4:3:2279:24590:8174,LH00995:48:23YTGFLT4:3:2285:45608:19440,LH00995:48:23YTGFLT4:3:2286:15125:16329,LH00995:48:23YTGFLT4:3:2310:4285:17394,LH00995:48:23YTGFLT4:3:2320:29121:22747,LH00995:48:23YTGFLT4:3:2328:10635:24835,LH00995:48:23YTGFLT4:3:2354:12747:29081,LH00995:48:23YTGFLT4:3:2355:43699:8819,LH00995:48:23YTGFLT4:3:2357:49459:19833,LH00995:48:23YTGFLT4:3:2382:16881:6703,LH00995:48:23YTGFLT4:3:2394:3686:24373,LH00995:48:23YTGFLT4:3:2407:6631:18936,LH00995:48:23YTGFLT4:3:2417:33214:6044,LH00995:48:23YTGFLT4:3:2421:26071:19174,LH00995:48:23YTGFLT4:3:2458:14769:19720,LH00995:48:23YTGFLT4:3:2458:9786:7950,LH00995:48:23YTGFLT4:3:2462:18442:10528,LH00995:48:23YTGFLT4:3:2462:29590:1476,LH00995:48:23YTGFLT4:3:2463:15101:26965,LH00995:48:23YTGFLT4:3:2471:14122:25522,LH00995:48:23YTGFLT4:3:2471:1623:12784,LH00995:48:23YTGFLT4:3:2488:30011:14368,LH00995:48:23YTGFLT4:4:1107:47914:12224,LH00995:48:23YTGFLT4:4:1107:7860:22999,LH00995:48:23YTGFLT4:4:1140:19008:18487,LH00995:48:23YTGFLT4:4:1159:13847:21822,LH00995:48:23YTGFLT4:4:1184:16080:27679,LH00995:48:23YTGFLT4:4:1195:2845:17506,LH00995:48:23YTGFLT4:4:1195:50786:13415,LH00995:48:23YTGFLT4:4:1197:38958:20253,LH00995:48:23YTGFLT4:4:1211:24437:25620,LH00995:48:23YTGFLT4:4:1212:13062:17352,LH00995:48:23YTGFLT4:4:1217:28579:11243,LH00995:48:23YTGFLT4:4:1217:28595:11243,LH00995:48:23YTGFLT4:4:1240:3346:8595,LH00995:48:23YTGFLT4:4:1251:23280:19889,LH00995:48:23YTGFLT4:4:1259:48804:10318,LH00995:48:23YTGFLT4:4:1273:23159:29235,LH00995:48:23YTGFLT4:4:1317:1777:10108,LH00995:48:23YTGFLT4:4:1365:4851:26110,LH00995:48:23YTGFLT4:4:1371:1647:27371,LH00995:48:23YTGFLT4:4:1371:1655:27357,LH00995:48:23YTGFLT4:4:1385:2011:12784,LH00995:48:23YTGFLT4:4:1393:22746:3158,LH00995:48:23YTGFLT4:4:1394:37421:9968,LH00995:48:23YTGFLT4:4:1394:41887:22271,LH00995:48:23YTGFLT4:4:1412:13184:1869,LH00995:48:23YTGFLT4:4:1412:27430:23350,LH00995:48:23YTGFLT4:4:1439:28644:21556,LH00995:48:23YTGFLT4:4:1443:7965:27806,LH00995:48:23YTGFLT4:4:1446:43189:28730,LH00995:48:23YTGFLT4:4:1459:40471:1154,LH00995:48:23YTGFLT4:4:1461:22625:7600,LH00995:48:23YTGFLT4:4:1475:41199:27749,LH00995:48:23YTGFLT4:4:1477:42113:14340,LH00995:48:23YTGFLT4:4:1477:42121:14354,LH00995:48:23YTGFLT4:4:1481:23976:19973,LH00995:48:23YTGFLT4:4:1482:23053:1617,LH00995:48:23YTGFLT4:4:2102:44443:7109,LH00995:48:23YTGFLT4:4:2127:32203:9982,LH00995:48:23YTGFLT4:4:2143:28037:28044,LH00995:48:23YTGFLT4:4:2145:15845:7628,LH00995:48:23YTGFLT4:4:2151:16978:14382,LH00995:48:23YTGFLT4:4:2153:45147:3676,LH00995:48:23YTGFLT4:4:2174:17390:11397,LH00995:48:23YTGFLT4:4:2174:2586:7726,LH00995:48:23YTGFLT4:4:2192:15845:17128,LH00995:48:23YTGFLT4:4:2216:39363:27595,LH00995:48:23YTGFLT4:4:2217:49726:25507,LH00995:48:23YTGFLT4:4:2217:49742:25507,LH00995:48:23YTGFLT4:4:2230:2367:11888,LH00995:48:23YTGFLT4:4:2257:41685:4405,LH00995:48:23YTGFLT4:4:2282:41782:24611,LH00995:48:23YTGFLT4:4:2288:16282:3816,LH00995:48:23YTGFLT4:4:2289:9681:7348,LH00995:48:23YTGFLT4:4:2295:27729:20785,LH00995:48:23YTGFLT4:4:2314:9414:13639,LH00995:48:23YTGFLT4:4:2325:2845:9239,LH00995:48:23YTGFLT4:4:2325:2853:9253
RBM14 RBM4 +/+ +/+ chr11:66617550 chr11:66639700 exon/splice-site 5'UTR/splice-site deletion/read-through 0 0 0 21 4458 low . . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%) . . ENSG00000239306.5 ENSG00000173933.21 ENST00000461478.1 ENST00000396053.9 downstream upstream duplicates(1),read_through(1) GCCGCCCTCCTGTTCCCTCCCGATGAATGTGCTCAAGCGGAAG|GCTCTTGTCAtGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAG . LH00995:48:23YTGFLT4:4:2477:51304:28212,LH00995:48:23YTGFLT4:6:2255:39889:16035
RBM14 RBM4 +/+ +/+ chr11:66625678 chr11:66639700 CDS/splice-site 5'UTR/splice-site deletion/read-through 0 0 0 1021 4458 low out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(99%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%) . . ENSG00000239306.5 ENSG00000173933.21 ENST00000310137.5 ENST00000396053.9 downstream upstream duplicates(1),read_through(1) GCCAGGCAATGCCTACGATGGGGCAGGTCAGCCGTCTGCAGCCTACCTGTCCATGTCCCAGGGGGCCGTTGCCAACGCCAACAGCACCCCGCCGCCCTATGAGCGTACCCGCCTCTCCCCACCCCGGGCCAGCTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTAC PGNAYDGAGQPSAAYLSMSQGAVANANSTPPPYERTRLSPPRASYDDPYKKAVAMSKr|llsgw* LH00995:48:23YTGFLT4:5:1151:41798:13681,LH00995:48:23YTGFLT4:5:1151:41806:13695
ANKLE2 GOLGA3 -/- -/- chr12:132734385 chr12:132816812 CDS/splice-site CDS/splice-site duplication 7 3 0 956 3827 medium in-frame . Caulimovirus_viroplasmin(100%),LEM_domain(100%)| . . ENSG00000176915.15 ENSG00000090615.15 ENST00000357997.10 ENST00000204726.8 upstream downstream duplicates(5) TTGTTGATCTGTCTTCCCAGGAAGGCCTGCAAAGACTAGAAGAATATCTCACACAGCAGGAAATAGGCAAAAAGGCTCAACAAGAAACAGGAGAACGGGAAGCCTCCTGCCGAGATAAAGCCACCACGTCTG|GTGCCGAGGTAAACAGAGCATCCACGGAAGGGGAAAGCCCGGATGGACCTGGCCAGGGAGGCCTCTGTCAGAACGGGCCAACGCCACCCTTCCCAGACCCTCCGTCGTCTCTCGA VDLSSQEGLQRLEEYLTQQEIGKKAQQETGEREASCRDKATTS|gAEVNRASTEGESPDGPGQGGLCQNGPTPPFPDPPSSL LH00995:48:23YTGFLT4:1:1242:25610:6633,LH00995:48:23YTGFLT4:1:1279:31402:12490,LH00995:48:23YTGFLT4:1:2193:3023:21262,LH00995:48:23YTGFLT4:1:2456:19793:3592,LH00995:48:23YTGFLT4:4:2292:3694:9982,LH00995:48:23YTGFLT4:5:1257:38780:15881,LH00995:48:23YTGFLT4:6:2198:15279:6787,LH00995:48:23YTGFLT4:6:2380:31273:25886,LH00995:48:23YTGFLT4:7:1484:14219:14312,LH00995:48:23YTGFLT4:8:2270:43375:17366,LH00995:48:23YTGFLT4:4:2121:28579:22032,LH00995:48:23YTGFLT4:5:1254:17172:28114,LH00995:48:23YTGFLT4:6:1136:50147:14858,LH00995:48:23YTGFLT4:6:1172:3872:7179
ANKLE2 GOLGA3 -/- -/- chr12:132733996 chr12:132816812 exon/splice-site CDS/splice-site duplication 1 0 0 17 3827 low . . Caulimovirus_viroplasmin(100%),LEM_domain(100%)| . . ENSG00000176915.15 ENSG00000090615.15 ENST00000439231.6 ENST00000204726.8 upstream downstream . CTCGAACTCCTGACCTCGTGATCCACTAGAGTGCTGGGAAG|GTGCCGAGGTAAACAGAGCATCCACGGAAGGGGAAAGCCCG . LH00995:48:23YTGFLT4:4:2146:36523:5694
ANKLE2 GOLGA3 -/- -/- chr12:132734385 chr12:132813419 CDS/splice-site CDS/splice-site duplication 0 1 0 956 3788 low in-frame . Caulimovirus_viroplasmin(100%),LEM_domain(100%)| . . ENSG00000176915.15 ENSG00000090615.15 ENST00000357997.10 ENST00000204726.8 upstream downstream duplicates(1) CTCAACAAGAAACAGGAGAACGGGAAGCCTCCTGCCGAGATAAAGCCACCACGTCTG|GCTCTAtAGATTCTCCCCTGCCCCTGGAGAAGGAGGAGCAGGTCCGACTTCAGGCTCGGAAGTGGCTGGAAGAGCAGCTCAAACAG QQETGEREASCRDKATTS|gSiDSPLPLEKEEQVRLQARKWLEEQLK LH00995:48:23YTGFLT4:3:1487:26435:21010,LH00995:48:23YTGFLT4:8:2183:32891:24709
CTIF PTTG1IP +/- -/- chr18:48572072 chr21:44855256 intron CDS/splice-site translocation/3'-3' 0 8 0 0 26884 medium . . . . . ENSG00000134030.14 ENSG00000183255.12 . ENST00000330938.8 upstream downstream . GGAGGAGGAGGAGGAGGAGGAACG|GAGAGCAGAGATGAAGACAAGACATGATGAAATCAGAAAAAAATATG___GCCTGTTTAAAGAAGAAAACCCGTATGCTAGATTTGAAAACAACTAAAGCGCTCCAGCACATCAGTCCCGACGCTTCCTGT . LH00995:48:23YTGFLT4:2:1454:10117:5638,LH00995:48:23YTGFLT4:2:2140:40220:7081,LH00995:48:23YTGFLT4:3:1416:12755:18025,LH00995:48:23YTGFLT4:4:1452:29995:14312,LH00995:48:23YTGFLT4:5:2463:45244:12644,LH00995:48:23YTGFLT4:6:1186:26985:5456,LH00995:48:23YTGFLT4:6:2424:10069:17240,LH00995:48:23YTGFLT4:8:1279:32608:13317
AC107391.1(64121),AC105924.1(19679) EZR ./- -/- chr4:189268998 chr6:158769418 intergenic CDS/splice-site translocation 0 7 0 0 23173 medium . . |Ezrin/radixin/moesin_family_C_terminal(67%) . . . ENSG00000092820.18 . ENST00000367075.4 upstream downstream duplicates(9),mismappers(3) GAGAGAGAGAGAGAGAGGAGCAGCTG|GCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGG___GCCAAAGAAGCCCAGGATGACCTGGTGAAGACCAAGGAGGAGCTGCACCTGGTGATGACAGCACCCCCGCCCCCACCACCCCC . LH00995:48:23YTGFLT4:1:1255:35051:24863,LH00995:48:23YTGFLT4:1:1272:21031:26811,LH00995:48:23YTGFLT4:1:1358:4163:1210,LH00995:48:23YTGFLT4:2:1117:8313:10528,LH00995:48:23YTGFLT4:2:2124:22123:23994,LH00995:48:23YTGFLT4:2:2278:43650:1813,LH00995:48:23YTGFLT4:3:1379:9066:1687,LH00995:48:23YTGFLT4:3:1493:29016:17829,LH00995:48:23YTGFLT4:4:1123:36046:5932,LH00995:48:23YTGFLT4:4:1433:25149:12308,LH00995:48:23YTGFLT4:5:1116:51255:10725,LH00995:48:23YTGFLT4:5:1257:38805:18445,LH00995:48:23YTGFLT4:5:1287:46992:21920,LH00995:48:23YTGFLT4:6:2480:13774:4209,LH00995:48:23YTGFLT4:8:1353:23733:27175,LH00995:48:23YTGFLT4:8:1371:40471:20659,LH00995:48:23YTGFLT4:8:2317:37963:23546,LH00995:48:23YTGFLT4:8:2373:3370:3564,LH00995:48:23YTGFLT4:8:2373:3387:3564
AC092681.1(23005),AC092681.2(68043) SND1 ./+ +/+ chr7:149932709 chr7:128081361 intergenic CDS/splice-site duplication 0 7 0 5 25428 medium . . |Staphylococcal_nuclease_homologue(9%),Tudor_domain(100%) . . . ENSG00000197157.11 . ENST00000354725.8 downstream upstream duplicates(7) GCGGGGGAGAGAGAGAAAGAGAAGG|TCTGGGCCCACTATGAGGAGCAGCCCGTGGAGGAGGTGATGCCAGTGCTGGAGGAGAAGGAGCGATCTGCTAGCTACAAGCCCGTGTTTGTGACcGAGATCACTGATGACCTGCACTTCTACGTGC . LH00995:48:23YTGFLT4:1:2446:44314:10248,LH00995:48:23YTGFLT4:2:1152:33667:13975,LH00995:48:23YTGFLT4:2:1440:10004:13821,LH00995:48:23YTGFLT4:2:1440:10198:9730,LH00995:48:23YTGFLT4:2:2224:21419:20589,LH00995:48:23YTGFLT4:3:2121:51870:6241,LH00995:48:23YTGFLT4:6:1402:50567:17633,LH00995:48:23YTGFLT4:6:1433:35933:1925,LH00995:48:23YTGFLT4:6:2235:25246:21136,LH00995:48:23YTGFLT4:6:2277:37963:29235,LH00995:48:23YTGFLT4:7:1316:7796:9379,LH00995:48:23YTGFLT4:8:1279:19445:10697,LH00995:48:23YTGFLT4:8:1279:20076:8959,LH00995:48:23YTGFLT4:8:1483:43238:10654
AL132719.1(94840),C14orf177(101975) ATP5F1A ./- -/- chr14:98609638 chr18:46089900 intergenic CDS/splice-site translocation 0 6 0 8 5718 medium . . |ATP_synthase_alpha/beta_chain__C_terminal_domain(100%),ATP_synthase_alpha/beta_family__nucleotide-binding_domain(100%) . . . ENSG00000152234.16 . ENST00000282050.6 upstream downstream duplicates(3) GGGAGAGAGAGAGAGAGAGGACAGGA|GCCATTGTGGACGTTCCAGTTGGTGAGGAGCTGTTGGGTCGTGTAGTTGATGCCCTTGGTAATGCTATTGATGGAAAG___GGTCCAATTGGTTCCAAGACGCGTAGGCGAGTTGGTCTGAAAGCCCCCGG . LH00995:48:23YTGFLT4:1:2134:44136:24120,LH00995:48:23YTGFLT4:1:2237:22163:7278,LH00995:48:23YTGFLT4:2:1239:28239:24415,LH00995:48:23YTGFLT4:4:1342:12043:8413,LH00995:48:23YTGFLT4:4:1342:12059:8413,LH00995:48:23YTGFLT4:4:2389:12447:21668,LH00995:48:23YTGFLT4:5:1355:43076:27497,LH00995:48:23YTGFLT4:6:1484:23142:18361,LH00995:48:23YTGFLT4:7:2382:9389:16428
AC009166.3(5996),SOD1P2(5623) CANX ./+ +/+ chr16:51101948 chr5:179726683 intergenic CDS/splice-site translocation 0 6 0 0 27378 medium . . |Calreticulin_family(0%) . . . ENSG00000127022.16 . ENST00000680406.1 downstream upstream duplicates(3),mismappers(1) GAGAGAGAGAGAGAGAGAAACTTGAAG|AGAAACAGAAAAGTGATGCTGAAGAAGATGGTGGCACTGTCAGTCAAGAGGAGGAAGACAGAAAACCTAAAGCAGAG___GAGGATGAAATTTTGAACAGATCACCAAGAAAC . LH00995:48:23YTGFLT4:1:1350:46288:28044,LH00995:48:23YTGFLT4:5:1442:11622:6647,LH00995:48:23YTGFLT4:5:2154:27851:29123,LH00995:48:23YTGFLT4:5:2229:20732:11551,LH00995:48:23YTGFLT4:6:1112:14065:20575,LH00995:48:23YTGFLT4:7:1283:18361:23448,LH00995:48:23YTGFLT4:7:1283:18377:23448
AC068286.2(35939),NBAS(138909) HSP90AB1 ./+ +/+ chr2:15028005 chr6:44250292 intergenic CDS/splice-site translocation 0 6 0 0 14492 medium . . |Hsp90_protein(94%) . . . ENSG00000096384.20 . ENST00000620073.4 downstream upstream duplicates(2) CTCTGCCTCATCATCACcCTTTATT|TGGAGAAGGAACGAGAGAAGGAAATTAGTGATGATGAGGCAGAGGAAGAGAAAGGTGAGAAAGAAGAGGAAGATAAAGATGATGAAGAAAAgCCCAAGATCGAAGATGTGGGTTCAG . LH00995:48:23YTGFLT4:3:2410:14583:14634,LH00995:48:23YTGFLT4:4:1172:20481:19468,LH00995:48:23YTGFLT4:4:1172:20489:19454,LH00995:48:23YTGFLT4:4:2159:44775:23602,LH00995:48:23YTGFLT4:4:2189:39897:13359,LH00995:48:23YTGFLT4:6:1285:49386:26600,LH00995:48:23YTGFLT4:6:2378:22180:21346,LH00995:48:23YTGFLT4:8:2140:33789:21752
SCFD2 RANBP1 -/+ +/+ chr4:53007361 chr22:20126952 intron CDS/splice-site translocation/3'-3' 0 5 0 0 3519 medium . . . . . ENSG00000184178.16 ENSG00000099901.17 . ENST00000430524.6 downstream upstream duplicates(1) GGGAGAGAGAGAGAGAGAGAAAAGAAAG|CAGGATCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGAAGGAGGAGACCAAGGAGGATGCTGAGGAGAAG . LH00995:48:23YTGFLT4:2:2254:46086:14073,LH00995:48:23YTGFLT4:5:2270:47776:4391,LH00995:48:23YTGFLT4:6:2362:8961:10640,LH00995:48:23YTGFLT4:7:2338:26338:15040,LH00995:48:23YTGFLT4:7:2447:14171:25578,LH00995:48:23YTGFLT4:8:1106:5304:3859
LINC02228 PTTG1IP -/+ -/- chr5:25144223 chr21:44855257 intron intron translocation/3'-3' 0 5 0 0 26884 medium . . . . . ENSG00000251273.4 ENSG00000183255.12 . ENST00000330938.8 downstream downstream . GGGAGGAGGAGGAGGAGGAGGAAC|GGAGAGCAGAGATGAAGACAAGACATGATGAAATCAGAAAAAAATATG___GCCTGTTTAAAGAAGAAAACCCGTATGCTAGATTTGAAAACAACTAAAGCGCTCCAGCACATCAGTCCCGACGCTTCCTGTGA . LH00995:48:23YTGFLT4:1:1434:44484:26320,LH00995:48:23YTGFLT4:2:1348:37187:11944,LH00995:48:23YTGFLT4:2:2137:42777:16357,LH00995:48:23YTGFLT4:3:2448:19348:23700,LH00995:48:23YTGFLT4:4:2266:38788:12616
ASAP1 SRRM2 -/+ +/+ chr8:130071004 chr16:2757473 intron CDS/splice-site translocation/3'-3' 0 5 0 87 8840 medium . . |cwf21_domain(45%) . . ENSG00000153317.15 ENSG00000167978.17 . ENST00000301740.13 downstream upstream duplicates(4),mismatches(4) GGGGGAGAGAGAGAGAGAGAGGGG|TACGAGGAACAGCAAATTCAGGAAAAAGTGGCGACCTTTCGACTCATGTTGCTGGAGAAGGATGTGAACCCTGGGGGCAAGGAGGAGACCCCAGGGCAGAGGCCAGC___GGTCACGGAGACTCACCAGTTGGCAGAATTAAA . LH00995:48:23YTGFLT4:3:1384:45010:26923,LH00995:48:23YTGFLT4:5:2230:25925:13345,LH00995:48:23YTGFLT4:7:1108:51935:25269,LH00995:48:23YTGFLT4:7:1115:49936:11607,LH00995:48:23YTGFLT4:7:1224:33554:8595,LH00995:48:23YTGFLT4:7:1464:1429:4181,LH00995:48:23YTGFLT4:7:2234:43003:9940,LH00995:48:23YTGFLT4:7:2490:29517:23546,LH00995:48:23YTGFLT4:8:1141:20998:10528,LH00995:48:23YTGFLT4:8:1471:16298:5722,LH00995:48:23YTGFLT4:8:2273:46611:2990,LH00995:48:23YTGFLT4:8:2275:39646:16568,LH00995:48:23YTGFLT4:8:2306:40487:28674
MEX3A HNRNPD -/+ -/- chr1:156082052 chr4:82355401 5'UTR CDS/splice-site translocation/3'-3' 0 5 0 143 11194 medium . . . . . ENSG00000254726.3 ENSG00000138668.19 . ENST00000313899.12 downstream downstream duplicates(3),mismatches(4) GGGAGAGAGAGAGAGAGAGGTGGTG|ACCAGCAGAGTGGTTATGGGAAGGTATCCAGGCGAGGTGGTCATCAAAATAGCTACAAACCATACTAAATTATTCCATTTGCAACTTATCCCCAACAG___GTGGTGAAGCAGTATTTTCCAATTTGAAGATTCATTTGAAGGTGGCTCCTGCCACCTGCTAATAGCAGTTCAAACTAAATTTTTTGTATCAAGT . LH00995:48:23YTGFLT4:2:1238:27802:17913,LH00995:48:23YTGFLT4:2:1238:27818:17913,LH00995:48:23YTGFLT4:2:1446:49402:16035,LH00995:48:23YTGFLT4:3:1121:29056:2429,LH00995:48:23YTGFLT4:3:1410:29946:25718,LH00995:48:23YTGFLT4:3:1472:44079:11663,LH00995:48:23YTGFLT4:4:1256:50276:5610,LH00995:48:23YTGFLT4:4:1256:50292:5610,LH00995:48:23YTGFLT4:4:1448:49095:27693,LH00995:48:23YTGFLT4:5:1279:21120:19622,LH00995:48:23YTGFLT4:7:2258:3953:9337,LH00995:48:23YTGFLT4:8:1483:51166:20687
STAT3(13124),CAVIN1(785) RANBP1 ./+ +/+ chr17:42401664 chr22:20126955 intergenic CDS/splice-site translocation 0 4 0 2 3519 medium . . . . . . ENSG00000099901.17 . ENST00000402752.5 downstream upstream duplicates(1) GGGGGAGAGAGAGAGAGAAAAGAAAG|GATCAGGCAAAAATGATCATGCCGAAAAAGTGGCGGAAAAGCTAGAAGCTCTCTCGGTGAAGGAGGAGACCAAGGAGGATGCTGAGGA . LH00995:48:23YTGFLT4:2:2332:7747:20337,LH00995:48:23YTGFLT4:3:1447:44435:29291,LH00995:48:23YTGFLT4:3:2234:6461:16960,LH00995:48:23YTGFLT4:3:2386:25294:22845,LH00995:48:23YTGFLT4:6:2157:32244:11761
PCDHGA3 PCDHGA8 +/+ +/+ chr5:141346457 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 1 0 11 18228 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(6) CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAAT NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQ LH00995:48:23YTGFLT4:2:1285:8330:4307,LH00995:48:23YTGFLT4:2:2125:26071:13289,LH00995:48:23YTGFLT4:3:1337:32365:18613,LH00995:48:23YTGFLT4:4:1415:12714:3214,LH00995:48:23YTGFLT4:4:2108:49022:2990,LH00995:48:23YTGFLT4:5:2167:1623:10066,LH00995:48:23YTGFLT4:3:1161:33441:5148,LH00995:48:23YTGFLT4:5:1189:47162:7278,LH00995:48:23YTGFLT4:8:1495:5854:12350,LH00995:48:23YTGFLT4:8:1495:5862:12364
PCDHGA3 PCDHGB6 +/+ +/+ chr5:141346457 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 1 0 11 18228 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(6) CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAAT NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQ LH00995:48:23YTGFLT4:2:1285:8330:4307,LH00995:48:23YTGFLT4:2:2125:26071:13289,LH00995:48:23YTGFLT4:3:1337:32365:18613,LH00995:48:23YTGFLT4:4:1415:12714:3214,LH00995:48:23YTGFLT4:4:2108:49022:2990,LH00995:48:23YTGFLT4:5:2167:1623:10066,LH00995:48:23YTGFLT4:3:1161:33441:5148,LH00995:48:23YTGFLT4:5:1189:47162:7278,LH00995:48:23YTGFLT4:8:1495:5854:12350,LH00995:48:23YTGFLT4:8:1495:5862:12364
PCDHGA3 PCDHGA11 +/+ +/+ chr5:141346457 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 1 0 11 18228 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(6) CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAAT NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQ LH00995:48:23YTGFLT4:2:1285:8330:4307,LH00995:48:23YTGFLT4:2:2125:26071:13289,LH00995:48:23YTGFLT4:3:1337:32365:18613,LH00995:48:23YTGFLT4:4:1415:12714:3214,LH00995:48:23YTGFLT4:4:2108:49022:2990,LH00995:48:23YTGFLT4:5:2167:1623:10066,LH00995:48:23YTGFLT4:3:1161:33441:5148,LH00995:48:23YTGFLT4:5:1189:47162:7278,LH00995:48:23YTGFLT4:8:1495:5854:12350,LH00995:48:23YTGFLT4:8:1495:5862:12364
PCDHGA3 PCDHGC4 +/+ +/+ chr5:141346457 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 1 0 11 18228 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(6) CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAAT NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQ LH00995:48:23YTGFLT4:2:1285:8330:4307,LH00995:48:23YTGFLT4:2:2125:26071:13289,LH00995:48:23YTGFLT4:3:1337:32365:18613,LH00995:48:23YTGFLT4:4:1415:12714:3214,LH00995:48:23YTGFLT4:4:2108:49022:2990,LH00995:48:23YTGFLT4:5:2167:1623:10066,LH00995:48:23YTGFLT4:3:1161:33441:5148,LH00995:48:23YTGFLT4:5:1189:47162:7278,LH00995:48:23YTGFLT4:8:1495:5854:12350,LH00995:48:23YTGFLT4:8:1495:5862:12364
PCDHGA3 PCDHGA10 +/+ +/+ chr5:141346457 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 1 0 11 18228 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(6) CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAAT NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQ LH00995:48:23YTGFLT4:2:1285:8330:4307,LH00995:48:23YTGFLT4:2:2125:26071:13289,LH00995:48:23YTGFLT4:3:1337:32365:18613,LH00995:48:23YTGFLT4:4:1415:12714:3214,LH00995:48:23YTGFLT4:4:2108:49022:2990,LH00995:48:23YTGFLT4:5:2167:1623:10066,LH00995:48:23YTGFLT4:3:1161:33441:5148,LH00995:48:23YTGFLT4:5:1189:47162:7278,LH00995:48:23YTGFLT4:8:1495:5854:12350,LH00995:48:23YTGFLT4:8:1495:5862:12364
PCDHGA3 PCDHGA9 +/+ +/+ chr5:141346457 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 1 0 11 18228 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(6) CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAAT NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQ LH00995:48:23YTGFLT4:2:1285:8330:4307,LH00995:48:23YTGFLT4:2:2125:26071:13289,LH00995:48:23YTGFLT4:3:1337:32365:18613,LH00995:48:23YTGFLT4:4:1415:12714:3214,LH00995:48:23YTGFLT4:4:2108:49022:2990,LH00995:48:23YTGFLT4:5:2167:1623:10066,LH00995:48:23YTGFLT4:3:1161:33441:5148,LH00995:48:23YTGFLT4:5:1189:47162:7278,LH00995:48:23YTGFLT4:8:1495:5854:12350,LH00995:48:23YTGFLT4:8:1495:5862:12364
PCDHGA3 PCDHGC5 +/+ +/+ chr5:141346457 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 1 0 11 18228 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(6) CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAAT NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQ LH00995:48:23YTGFLT4:2:1285:8330:4307,LH00995:48:23YTGFLT4:2:2125:26071:13289,LH00995:48:23YTGFLT4:3:1337:32365:18613,LH00995:48:23YTGFLT4:4:1415:12714:3214,LH00995:48:23YTGFLT4:4:2108:49022:2990,LH00995:48:23YTGFLT4:5:2167:1623:10066,LH00995:48:23YTGFLT4:3:1161:33441:5148,LH00995:48:23YTGFLT4:5:1189:47162:7278,LH00995:48:23YTGFLT4:8:1495:5854:12350,LH00995:48:23YTGFLT4:8:1495:5862:12364
PCDHGA3 PCDHGB7 +/+ +/+ chr5:141346457 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 1 0 11 18228 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(6) CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAAT NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQ LH00995:48:23YTGFLT4:2:1285:8330:4307,LH00995:48:23YTGFLT4:2:2125:26071:13289,LH00995:48:23YTGFLT4:3:1337:32365:18613,LH00995:48:23YTGFLT4:4:1415:12714:3214,LH00995:48:23YTGFLT4:4:2108:49022:2990,LH00995:48:23YTGFLT4:5:2167:1623:10066,LH00995:48:23YTGFLT4:3:1161:33441:5148,LH00995:48:23YTGFLT4:5:1189:47162:7278,LH00995:48:23YTGFLT4:8:1495:5854:12350,LH00995:48:23YTGFLT4:8:1495:5862:12364
PCDHGA3 PCDHGA12 +/+ +/+ chr5:141346457 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 1 0 11 18228 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(6) CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAAT NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQ LH00995:48:23YTGFLT4:2:1285:8330:4307,LH00995:48:23YTGFLT4:2:2125:26071:13289,LH00995:48:23YTGFLT4:3:1337:32365:18613,LH00995:48:23YTGFLT4:4:1415:12714:3214,LH00995:48:23YTGFLT4:4:2108:49022:2990,LH00995:48:23YTGFLT4:5:2167:1623:10066,LH00995:48:23YTGFLT4:3:1161:33441:5148,LH00995:48:23YTGFLT4:5:1189:47162:7278,LH00995:48:23YTGFLT4:8:1495:5854:12350,LH00995:48:23YTGFLT4:8:1495:5862:12364
PCDHGA3 PCDHGC3 +/+ +/+ chr5:141346457 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 1 0 11 18228 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(6) CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAAT NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQ LH00995:48:23YTGFLT4:2:1285:8330:4307,LH00995:48:23YTGFLT4:2:2125:26071:13289,LH00995:48:23YTGFLT4:3:1337:32365:18613,LH00995:48:23YTGFLT4:4:1415:12714:3214,LH00995:48:23YTGFLT4:4:2108:49022:2990,LH00995:48:23YTGFLT4:5:2167:1623:10066,LH00995:48:23YTGFLT4:3:1161:33441:5148,LH00995:48:23YTGFLT4:5:1189:47162:7278,LH00995:48:23YTGFLT4:8:1495:5854:12350,LH00995:48:23YTGFLT4:8:1495:5862:12364
TNNI3K COPS7A +/- +/+ chr1:74475124 chr12:6730402 intron CDS/splice-site translocation/3'-3' 0 3 0 0 4095 medium . . |COP9_signalosome_complex_subunit_7a_helix_I_domain(76%) . . ENSG00000116783.15 ENSG00000111652.10 . ENST00000543155.6 upstream upstream . GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|GTGTGTGGGCTGTGAGGTCGTGCTGTCAGGCATTGAGGAGCAGGTGAGCCGTGCCAACCAACACAAGGAGCAGCAGCTGGGCCTGAAGCAGCAGATTGAGAGTGAG___GTTG?CAACCTTAAAAAAACCATTAAAGTTACGACGGCAGCAGCAGCCGCAGCCACATCTCAGGACCCTGAGCAACACtTG . LH00995:48:23YTGFLT4:1:1178:11331:24106,LH00995:48:23YTGFLT4:2:2434:8904:15166,LH00995:48:23YTGFLT4:7:1116:20529:6857
LRRC53 COPS7A -/- +/+ chr1:74475124 chr12:6730402 intron CDS/splice-site translocation 0 3 0 0 4095 medium . . Leucine_rich_repeat(100%)|COP9_signalosome_complex_subunit_7a_helix_I_domain(76%) . . ENSG00000162621.7 ENSG00000111652.10 . ENST00000543155.6 upstream upstream . GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT|GTGTGTGGGCTGTGAGGTCGTGCTGTCAGGCATTGAGGAGCAGGTGAGCCGTGCCAACCAACACAAGGAGCAGCAGCTGGGCCTGAAGCAGCAGATTGAGAGTGAG___GTTG?CAACCTTAAAAAAACCATTAAAGTTACGACGGCAGCAGCAGCCGCAGCCACATCTCAGGACCCTGAGCAACACtTG . LH00995:48:23YTGFLT4:1:1178:11331:24106,LH00995:48:23YTGFLT4:2:2434:8904:15166,LH00995:48:23YTGFLT4:7:1116:20529:6857
PIK3AP1(21848),RNU6-1274P(805) AKAP17A ./+ +/+ chr10:96742362 chrX:1599193 intergenic CDS/splice-site translocation 0 3 0 9 1603 medium . . . . . . ENSG00000197976.12 . ENST00000313871.9 downstream upstream duplicates(1),mismatches(2) GGGGGAGAGAGAGAGAGAGAGGAAAGG|AAACAAAAGGAGCTGGAAGAGCTGGAGCGAGAGAGGAAAAGAGAAGAGAAGCTTCGCAAGAGGGAGCAGAAGCAGAGGGACCGTGAGCTGCGCCGGAATCAGAAGAAGCTGGAGAAGCTGCAGGCGGAGGAGCAGAAGCAGCTGCAGGAGAAGATCAAGCTGGAGGAGCGCAAGCTGCTGCTGGCCCAGAGGAACCTGC . LH00995:48:23YTGFLT4:1:2401:14996:13303,LH00995:48:23YTGFLT4:2:1393:20861:20547,LH00995:48:23YTGFLT4:5:1238:28530:26404,LH00995:48:23YTGFLT4:5:1376:40714:17464,LH00995:48:23YTGFLT4:8:1474:4430:29137
ULK4 LRPAP1 -/+ -/- chr3:41306389 chr4:3525051 intron CDS/splice-site translocation/3'-3' 0 3 0 0 4747 medium . . |Alpha-2-macroglobulin_RAP__C-terminal_domain_(100%),Alpha-2-macroglobulin_RAP__N-terminal_domain(55%) . . ENSG00000168038.11 ENSG00000163956.13 . ENST00000650182.1 downstream downstream duplicates(7),mismatches(1) GCCCCCCGCCCAGCCAGCTGCCCCGTCCGGGAG|CTGCATCTTCCTCCCGTGAGGCTGGCCGAGCTCCACGCTGATCTGAAGATACAGGAGAGGGACGAACTCGCCTGGAAGAAACTAAAGCTTGACGGCTTGGACGAAGATGGGGAGAAGGAAGCGAGACTCATACGCAACCTCAATG___TCATCTTGGCCAAGTATGGTCTGGACGGAAAGAAGGACGCTCGGCAGGTGACCAGCAACTCCCTCAGTGGCACC . LH00995:48:23YTGFLT4:1:1343:37648:11089,LH00995:48:23YTGFLT4:3:2156:28991:17871,LH00995:48:23YTGFLT4:3:2328:46328:4853,LH00995:48:23YTGFLT4:6:1132:41701:7684,LH00995:48:23YTGFLT4:6:1132:41709:7670,LH00995:48:23YTGFLT4:6:2189:32591:11271,LH00995:48:23YTGFLT4:7:1484:27818:22649,LH00995:48:23YTGFLT4:7:1484:27826:22635,LH00995:48:23YTGFLT4:7:1484:27826:22663,LH00995:48:23YTGFLT4:7:2353:3289:21948,LH00995:48:23YTGFLT4:7:2476:14494:11621
ANKRD17 RASSF6(50292),UMLILO(39379) -/- ./- chr4:73258276 chr4:73670923 CDS/splice-site intergenic duplication 2 1 0 1229 2 medium out-of-frame . . . . ENSG00000132466.19 . ENST00000358602.9 . upstream downstream . ACCAGCAGTAACAACAGCGAGGAAGAAGAGGACGACGACGACGAGGAAGAGGAGGTTTCTGAG|TCTCTCATCTCTGCACACAGGGAGAAAAGCCCGCTGACCCTGTGAGGCTGGTCCCTACATCTGGC TSSNNSEEEEDDDDEEEEVSE|slisahrekspltl* LH00995:48:23YTGFLT4:4:1214:28126:15335,LH00995:48:23YTGFLT4:3:2390:29145:28002
CAMTA1 EEF1D +/+ -/- chr1:7597602 chr8:143579829 intron CDS/splice-site translocation 0 3 0 0 8522 medium . . CG-1_domain(90%)|EF-1_guanine_nucleotide_exchange_domain(13%) . . ENSG00000171735.19 ENSG00000104529.17 . ENST00000529272.5 downstream downstream duplicates(3) GGAGAGAGAGAGAGAGAGGAGCAcG|TGCAGAGTGTCGATATCGCAGCTTTCAACAAGATCTGAAGCCTGAGTGTGTGTACGTGCGCGCGTGCGTGAGGCCCTGCCACGATTAAAGACTGAGACCGGC . LH00995:48:23YTGFLT4:1:2246:51037:10318,LH00995:48:23YTGFLT4:1:2343:14599:23798,LH00995:48:23YTGFLT4:2:1306:29970:28702,LH00995:48:23YTGFLT4:5:1170:15643:20673,LH00995:48:23YTGFLT4:6:1163:31329:4601,LH00995:48:23YTGFLT4:8:2148:38287:9169
AC120193.1 TPT1 -/- -/- chr8:24792260 chr13:45340184 intron CDS/splice-site translocation 0 3 0 18 17467 medium . . |Translationally_controlled_tumour_protein(79%) . . ENSG00000253535.5 ENSG00000133112.17 . ENST00000616577.4 upstream downstream duplicates(2) GGGGAGAGAGAGAGAGAGAGGGGAAG|ATGGTCAGTAGGACAGAAGGTAACATTGATGACTCGCTCATTGGTGGAAATGCCTCCGCTGAAGGCCCCGAGGGCGAAGGTACCGAAAGCACAGTAATCACTGGTGTCGATATTGTCATGAAC . LH00995:48:23YTGFLT4:1:2441:23159:10234,LH00995:48:23YTGFLT4:2:2427:10837:12518,LH00995:48:23YTGFLT4:2:2427:10846:12532,LH00995:48:23YTGFLT4:3:2225:26386:9912,LH00995:48:23YTGFLT4:6:2134:46385:16694
FBXO25 SEPTIN14 +/+ -/- chr8:435707 chr7:55796092 CDS/splice-site CDS/splice-site translocation 0 2 0 782 916 medium in-frame . . . . ENSG00000147364.17 ENSG00000154997.9 ENST00000382824.5 ENST00000388975.4 downstream downstream duplicates(9),mismappers(1),mismatches(15),multimappers(3) C?TTTAATCGGTTAGACTTCTCAAGTGCAATTCAAGATAcCCGAAGGTTCAATTATGTGGTCAAA|CTGCAGGACAAaTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCAGCTGAGCACtGATACAAAG FNRLDFSSAIQDtRRFNYVVK|LQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQLSTDT LH00995:48:23YTGFLT4:1:1117:52194:15713,LH00995:48:23YTGFLT4:1:1225:10538:26600,LH00995:48:23YTGFLT4:1:1271:49451:24611,LH00995:48:23YTGFLT4:1:2319:18353:26460,LH00995:48:23YTGFLT4:2:1215:43553:9491,LH00995:48:23YTGFLT4:2:1303:3856:26124,LH00995:48:23YTGFLT4:2:2387:19526:15517,LH00995:48:23YTGFLT4:3:1158:39751:19664,LH00995:48:23YTGFLT4:3:1231:21727:1813,LH00995:48:23YTGFLT4:3:1231:21735:1827,LH00995:48:23YTGFLT4:3:2247:4196:3284,LH00995:48:23YTGFLT4:3:2310:17261:26194,LH00995:48:23YTGFLT4:3:2416:29501:14606,LH00995:48:23YTGFLT4:3:2493:2885:27581,LH00995:48:23YTGFLT4:5:1151:2950:16960,LH00995:48:23YTGFLT4:5:1391:22042:1378,LH00995:48:23YTGFLT4:5:1391:22058:1378,LH00995:48:23YTGFLT4:5:2408:19558:24933,LH00995:48:23YTGFLT4:5:2427:20643:16385,LH00995:48:23YTGFLT4:6:1181:38772:4657,LH00995:48:23YTGFLT4:6:1271:12544:24555,LH00995:48:23YTGFLT4:6:1271:12553:24569,LH00995:48:23YTGFLT4:6:1271:12561:24583,LH00995:48:23YTGFLT4:6:2214:11007:7600,LH00995:48:23YTGFLT4:6:2463:17924:28296,LH00995:48:23YTGFLT4:7:1153:22997:8048,LH00995:48:23YTGFLT4:7:1456:19647:5694,LH00995:48:23YTGFLT4:7:2115:43384:16456,LH00995:48:23YTGFLT4:8:1279:44929:9856,LH00995:48:23YTGFLT4:7:2262:26338:19692
LYPLAL1-DT PPP2R3B -/- -/- chr1:219173470 chrX:361590 exon/splice-site CDS/splice-site translocation 0 2 0 0 1466 medium . . . . . ENSG00000228063.2 ENSG00000167393.18 ENST00000657470.1 ENST00000390665.9 upstream downstream . ATTTTACCTTTCACTTTGGGACTCGCACAGGATGTTTGCAGCTCTTGATATACAGG|GTTCAGACACGGAAAGAAGAGCCTCTGCCCCCGGCCACGAGCCAAAGCATTCCGACCTTCTACTTCCCtAGAGGACGtCCGCAGGACTCCGTCAACGTGGATGCCGTCATCAGCAAGATCGAGAGCACCTTCGCCCG . LH00995:48:23YTGFLT4:1:2492:8192:19538,LH00995:48:23YTGFLT4:2:1390:50268:28660
KRT17P3 FP236383.3 -/- +/+ chr17:30571742 chr21:8397690 exon intron translocation 59 0 0 884 15838 low . . . . . ENSG00000231870.4 ENSG00000280441.3 ENST00000420566.3 . upstream upstream duplicates(99),mismatches(1) GCCCCTCTCCTCtCCAGCCCTTCTCCTGTGTGCCTGCCTCCTGCCGCCGCCACCATGACCAC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC . LH00995:48:23YTGFLT4:1:1101:12415:3873,LH00995:48:23YTGFLT4:1:1141:44362:9688,LH00995:48:23YTGFLT4:1:1153:51012:28352,LH00995:48:23YTGFLT4:1:1155:10862:8889,LH00995:48:23YTGFLT4:1:1214:11007:19398,LH00995:48:23YTGFLT4:1:1219:44646:14746,LH00995:48:23YTGFLT4:1:1243:37915:26544,LH00995:48:23YTGFLT4:1:1270:33174:13653,LH00995:48:23YTGFLT4:1:1278:41240:17058,LH00995:48:23YTGFLT4:1:1295:32381:26544,LH00995:48:23YTGFLT4:1:1424:20181:28366,LH00995:48:23YTGFLT4:1:1429:27082:11257,LH00995:48:23YTGFLT4:1:1435:45479:17703,LH00995:48:23YTGFLT4:1:1467:28069:7081,LH00995:48:23YTGFLT4:1:1486:25302:7278,LH00995:48:23YTGFLT4:1:1487:30011:19552,LH00995:48:23YTGFLT4:1:2244:43019:13499,LH00995:48:23YTGFLT4:1:2313:2068:10360,LH00995:48:23YTGFLT4:1:2402:33311:5400,LH00995:48:23YTGFLT4:2:1118:33360:25017,LH00995:48:23YTGFLT4:2:1152:45260:12476,LH00995:48:23YTGFLT4:2:1155:37696:3999,LH00995:48:23YTGFLT4:2:1211:31216:10514,LH00995:48:23YTGFLT4:2:1215:26823:12462,LH00995:48:23YTGFLT4:2:1223:42874:12518,LH00995:48:23YTGFLT4:2:1278:42065:18712,LH00995:48:23YTGFLT4:2:2124:44443:18712,LH00995:48:23YTGFLT4:2:2130:16541:27189,LH00995:48:23YTGFLT4:2:2148:13887:20183,LH00995:48:23YTGFLT4:2:2154:25618:20575,LH00995:48:23YTGFLT4:2:2352:12148:8146,LH00995:48:23YTGFLT4:2:2426:23239:24583,LH00995:48:23YTGFLT4:2:2445:45940:20547,LH00995:48:23YTGFLT4:2:2493:9834:1336,LH00995:48:23YTGFLT4:3:1104:23280:3410,LH00995:48:23YTGFLT4:3:1122:46474:26685,LH00995:48:23YTGFLT4:3:1182:34889:11439,LH00995:48:23YTGFLT4:3:1248:43893:13639,LH00995:48:23YTGFLT4:3:1302:27414:14522,LH00995:48:23YTGFLT4:3:1302:27422:14536,LH00995:48:23YTGFLT4:3:1353:29752:25381,LH00995:48:23YTGFLT4:3:1355:10174:22074,LH00995:48:23YTGFLT4:3:1427:44702:9127,LH00995:48:23YTGFLT4:3:1445:48197:14368,LH00995:48:23YTGFLT4:3:2187:26872:25746,LH00995:48:23YTGFLT4:3:2197:48302:5582,LH00995:48:23YTGFLT4:3:2226:11970:19748,LH00995:48:23YTGFLT4:3:2232:44516:11579,LH00995:48:23YTGFLT4:3:2241:52096:13247,LH00995:48:23YTGFLT4:3:2250:31532:2513,LH00995:48:23YTGFLT4:3:2258:36855:6829,LH00995:48:23YTGFLT4:3:2271:45074:12602,LH00995:48:23YTGFLT4:3:2323:7116:17759,LH00995:48:23YTGFLT4:3:2350:7310:15461,LH00995:48:23YTGFLT4:3:2383:33489:25914,LH00995:48:23YTGFLT4:3:2413:43861:5792,LH00995:48:23YTGFLT4:3:2493:37089:22985,LH00995:48:23YTGFLT4:4:1267:34274:19314,LH00995:48:23YTGFLT4:4:1324:51684:9898,LH00995:48:23YTGFLT4:4:1340:28676:8497,LH00995:48:23YTGFLT4:4:1415:51684:15475,LH00995:48:23YTGFLT4:4:1448:11161:5316,LH00995:48:23YTGFLT4:4:1470:17536:23420,LH00995:48:23YTGFLT4:4:1474:6477:1659,LH00995:48:23YTGFLT4:4:2183:23644:16512,LH00995:48:23YTGFLT4:4:2212:26192:7754,LH00995:48:23YTGFLT4:4:2225:19478:13079,LH00995:48:23YTGFLT4:4:2295:10490:6395,LH00995:48:23YTGFLT4:4:2391:24639:10753,LH00995:48:23YTGFLT4:5:1115:41321:21962,LH00995:48:23YTGFLT4:5:1130:39476:14284,LH00995:48:23YTGFLT4:5:1211:31103:17661,LH00995:48:23YTGFLT4:5:1221:45544:17058,LH00995:48:23YTGFLT4:5:1228:38796:27679,LH00995:48:23YTGFLT4:5:1231:50616:27665,LH00995:48:23YTGFLT4:5:1278:3904:22453,LH00995:48:23YTGFLT4:5:1283:13337:9029,LH00995:48:23YTGFLT4:5:1315:10951:3102,LH00995:48:23YTGFLT4:5:1356:43303:13009,LH00995:48:23YTGFLT4:5:1491:8637:21682,LH00995:48:23YTGFLT4:5:2126:44346:15349,LH00995:48:23YTGFLT4:5:2284:46975:10150,LH00995:48:23YTGFLT4:5:2340:42793:19104,LH00995:48:23YTGFLT4:5:2340:47162:13303,LH00995:48:23YTGFLT4:5:2380:37081:14592,LH00995:48:23YTGFLT4:5:2415:2667:13835,LH00995:48:23YTGFLT4:5:2434:21605:7432,LH00995:48:23YTGFLT4:5:2435:36944:14746,LH00995:48:23YTGFLT4:5:2445:43173:29431,LH00995:48:23YTGFLT4:5:2487:27187:18754,LH00995:48:23YTGFLT4:6:1123:11404:12322,LH00995:48:23YTGFLT4:6:1143:16832:24611,LH00995:48:23YTGFLT4:6:1149:29889:6703,LH00995:48:23YTGFLT4:6:1181:51862:7207,LH00995:48:23YTGFLT4:6:1189:42210:3214,LH00995:48:23YTGFLT4:6:1225:26119:9730,LH00995:48:23YTGFLT4:6:1229:26961:20996,LH00995:48:23YTGFLT4:6:1353:3103:15461,LH00995:48:23YTGFLT4:6:1389:47032:22103,LH00995:48:23YTGFLT4:6:1450:10012:24260,LH00995:48:23YTGFLT4:6:1489:21354:12070,LH00995:48:23YTGFLT4:6:2136:14583:8244,LH00995:48:23YTGFLT4:6:2214:45689:9547,LH00995:48:23YTGFLT4:6:2247:40633:6058,LH00995:48:23YTGFLT4:6:2274:14947:8651,LH00995:48:23YTGFLT4:6:2315:47526:1827,LH00995:48:23YTGFLT4:6:2382:38578:10010,LH00995:48:23YTGFLT4:6:2447:29186:7894,LH00995:48:23YTGFLT4:6:2453:4705:22831,LH00995:48:23YTGFLT4:6:2488:28466:23854,LH00995:48:23YTGFLT4:7:1172:5660:10697,LH00995:48:23YTGFLT4:7:1195:27195:23139,LH00995:48:23YTGFLT4:7:1207:35916:2541,LH00995:48:23YTGFLT4:7:1234:3160:12868,LH00995:48:23YTGFLT4:7:1249:3120:10024,LH00995:48:23YTGFLT4:7:1294:13491:6185,LH00995:48:23YTGFLT4:7:1337:21338:22719,LH00995:48:23YTGFLT4:7:1378:20699:13989,LH00995:48:23YTGFLT4:7:1378:20715:13989,LH00995:48:23YTGFLT4:7:1391:17180:23756,LH00995:48:23YTGFLT4:7:1413:25820:9127,LH00995:48:23YTGFLT4:7:1461:17309:19861,LH00995:48:23YTGFLT4:7:2109:16266:2051,LH00995:48:23YTGFLT4:7:2115:49823:20883,LH00995:48:23YTGFLT4:7:2192:44678:21808,LH00995:48:23YTGFLT4:7:2218:29024:17394,LH00995:48:23YTGFLT4:7:2227:5061:7838,LH00995:48:23YTGFLT4:7:2244:17342:3634,LH00995:48:23YTGFLT4:7:2260:10854:17030,LH00995:48:23YTGFLT4:7:2298:38246:11537,LH00995:48:23YTGFLT4:7:2325:24453:22201,LH00995:48:23YTGFLT4:7:2449:51449:19440,LH00995:48:23YTGFLT4:7:2480:32640:11691,LH00995:48:23YTGFLT4:8:1113:29525:20085,LH00995:48:23YTGFLT4:8:1119:34598:29179,LH00995:48:23YTGFLT4:8:1135:52088:8833,LH00995:48:23YTGFLT4:8:1163:20060:11425,LH00995:48:23YTGFLT4:8:1258:48949:16287,LH00995:48:23YTGFLT4:8:1296:7553:3943,LH00995:48:23YTGFLT4:8:1378:50826:17520,LH00995:48:23YTGFLT4:8:1443:26872:18796,LH00995:48:23YTGFLT4:8:2109:46700:24723,LH00995:48:23YTGFLT4:8:2156:15360:15391,LH00995:48:23YTGFLT4:8:2168:14057:6353,LH00995:48:23YTGFLT4:8:2211:22819:27581,LH00995:48:23YTGFLT4:8:2222:7205:14858,LH00995:48:23YTGFLT4:8:2268:2472:24008,LH00995:48:23YTGFLT4:8:2297:14243:26264,LH00995:48:23YTGFLT4:8:2313:23482:18137,LH00995:48:23YTGFLT4:8:2361:6081:25914,LH00995:48:23YTGFLT4:8:2404:22705:19006
LENG8 FP236383.3 +/+ +/+ chr19:54458670 chr21:8399955 CDS intron translocation 51 0 0 20031 55540 low out-of-frame . SAC3/GANP_family(84%)| . . ENSG00000167615.17 ENSG00000280441.3 ENST00000376514.6 . downstream upstream duplicates(59),mismatches(6) GGTGCCAAGCTCCCTTCTGCCTTTGCTCTTCCCATCCTTCCGCCTCGCACCGCCCCTCAGACCAGCTCCTGGCCGCAGGCCTCCCCCAGCCCCCAACCCTTGTCCTGGTCCTTGCTTCCCCATCATCTTTCTCCATTCAGCCC|CGCGCCCTCTCTCTCTCTCTCTCCCCC VPSSLLPLLFPSFRLAPPLRPAPGRRPPPAPNPCPGPCFPIIFLHSA|prplslslp LH00995:48:23YTGFLT4:1:1150:47429:6955,LH00995:48:23YTGFLT4:1:1287:50203:8034,LH00995:48:23YTGFLT4:1:1338:6760:24541,LH00995:48:23YTGFLT4:1:1392:43230:9604,LH00995:48:23YTGFLT4:1:1392:43238:9618,LH00995:48:23YTGFLT4:1:1404:25132:8020,LH00995:48:23YTGFLT4:1:2166:13418:20883,LH00995:48:23YTGFLT4:1:2182:7788:13261,LH00995:48:23YTGFLT4:1:2193:38449:14438,LH00995:48:23YTGFLT4:1:2291:10878:12504,LH00995:48:23YTGFLT4:2:1120:27907:19328,LH00995:48:23YTGFLT4:2:1156:6267:19174,LH00995:48:23YTGFLT4:2:1161:10684:12000,LH00995:48:23YTGFLT4:2:1236:15934:25241,LH00995:48:23YTGFLT4:2:1376:32244:2513,LH00995:48:23YTGFLT4:2:2117:21306:12714,LH00995:48:23YTGFLT4:2:2140:19211:11607,LH00995:48:23YTGFLT4:2:2140:19227:11607,LH00995:48:23YTGFLT4:2:2281:21403:15769,LH00995:48:23YTGFLT4:2:2292:4139:4783,LH00995:48:23YTGFLT4:2:2382:45843:18361,LH00995:48:23YTGFLT4:2:2388:42995:21976,LH00995:48:23YTGFLT4:2:2460:44621:17422,LH00995:48:23YTGFLT4:2:2462:38190:4517,LH00995:48:23YTGFLT4:2:2478:31515:29137,LH00995:48:23YTGFLT4:2:2481:32413:13541,LH00995:48:23YTGFLT4:3:1121:2594:16820,LH00995:48:23YTGFLT4:3:1126:17843:6044,LH00995:48:23YTGFLT4:3:1197:28587:14116,LH00995:48:23YTGFLT4:3:1215:25966:22887,LH00995:48:23YTGFLT4:3:1219:23620:14648,LH00995:48:23YTGFLT4:3:1219:23628:14662,LH00995:48:23YTGFLT4:3:1241:4794:22229,LH00995:48:23YTGFLT4:3:1241:4810:22229,LH00995:48:23YTGFLT4:3:1334:19340:29683,LH00995:48:23YTGFLT4:3:1442:16589:27273,LH00995:48:23YTGFLT4:3:2184:9430:27651,LH00995:48:23YTGFLT4:3:2195:29517:14942,LH00995:48:23YTGFLT4:3:2253:27543:2527,LH00995:48:23YTGFLT4:3:2285:47695:22915,LH00995:48:23YTGFLT4:3:2486:18604:23896,LH00995:48:23YTGFLT4:3:2486:18612:23910,LH00995:48:23YTGFLT4:4:1104:35649:10038,LH00995:48:23YTGFLT4:4:1190:9082:18950,LH00995:48:23YTGFLT4:4:1245:34784:20309,LH00995:48:23YTGFLT4:4:1281:1461:7263,LH00995:48:23YTGFLT4:4:1322:33934:17773,LH00995:48:23YTGFLT4:4:1402:31208:2037,LH00995:48:23YTGFLT4:4:1424:51983:17815,LH00995:48:23YTGFLT4:4:1457:1615:26110,LH00995:48:23YTGFLT4:4:1464:20456:10150,LH00995:48:23YTGFLT4:4:1464:20465:10164,LH00995:48:23YTGFLT4:4:2263:16015:20897,LH00995:48:23YTGFLT4:4:2278:11784:2892,LH00995:48:23YTGFLT4:4:2279:29161:10234,LH00995:48:23YTGFLT4:4:2307:38085:22243,LH00995:48:23YTGFLT4:4:2350:38578:25395,LH00995:48:23YTGFLT4:4:2351:13022:26530,LH00995:48:23YTGFLT4:4:2351:9939:20631,LH00995:48:23YTGFLT4:5:1158:37122:19454,LH00995:48:23YTGFLT4:5:1181:6485:14059,LH00995:48:23YTGFLT4:5:1181:6493:14073,LH00995:48:23YTGFLT4:5:1210:24930:6409,LH00995:48:23YTGFLT4:5:1283:14640:24541,LH00995:48:23YTGFLT4:5:1292:9171:21990,LH00995:48:23YTGFLT4:5:1411:34954:23826,LH00995:48:23YTGFLT4:5:2149:16347:3508,LH00995:48:23YTGFLT4:5:2207:19469:22313,LH00995:48:23YTGFLT4:5:2267:46547:26474,LH00995:48:23YTGFLT4:5:2301:27746:22999,LH00995:48:23YTGFLT4:5:2341:6113:6185,LH00995:48:23YTGFLT4:5:2396:34929:9604,LH00995:48:23YTGFLT4:5:2397:30585:7235,LH00995:48:23YTGFLT4:5:2434:32535:3410,LH00995:48:23YTGFLT4:5:2440:42655:1743,LH00995:48:23YTGFLT4:5:2465:10651:10514,LH00995:48:23YTGFLT4:5:2475:23086:22663,LH00995:48:23YTGFLT4:6:1277:3160:3844,LH00995:48:23YTGFLT4:6:1277:3176:3844,LH00995:48:23YTGFLT4:6:1332:2828:10893,LH00995:48:23YTGFLT4:6:1337:17123:26264,LH00995:48:23YTGFLT4:6:1418:2917:4293,LH00995:48:23YTGFLT4:6:2121:26467:24344,LH00995:48:23YTGFLT4:6:2337:30278:3592,LH00995:48:23YTGFLT4:6:2385:11193:13443,LH00995:48:23YTGFLT4:6:2397:14882:27960,LH00995:48:23YTGFLT4:6:2463:22422:24485,LH00995:48:23YTGFLT4:7:1132:33764:3550,LH00995:48:23YTGFLT4:7:1162:38052:4951,LH00995:48:23YTGFLT4:7:1206:46595:12098,LH00995:48:23YTGFLT4:7:1250:2173:8132,LH00995:48:23YTGFLT4:7:1263:31362:6339,LH00995:48:23YTGFLT4:7:1320:40762:27385,LH00995:48:23YTGFLT4:7:1320:40770:27371,LH00995:48:23YTGFLT4:7:1410:18927:8903,LH00995:48:23YTGFLT4:7:1424:18110:19398,LH00995:48:23YTGFLT4:7:1467:23231:1168,LH00995:48:23YTGFLT4:7:2103:45268:9576,LH00995:48:23YTGFLT4:7:2150:47938:29641,LH00995:48:23YTGFLT4:7:2208:47251:29039,LH00995:48:23YTGFLT4:7:2209:45268:17142,LH00995:48:23YTGFLT4:7:2228:6347:10150,LH00995:48:23YTGFLT4:7:2279:44759:28450,LH00995:48:23YTGFLT4:7:2402:3289:1799,LH00995:48:23YTGFLT4:7:2404:37688:19090,LH00995:48:23YTGFLT4:7:2479:41191:8567,LH00995:48:23YTGFLT4:8:1149:22924:27287,LH00995:48:23YTGFLT4:8:1202:48149:5064,LH00995:48:23YTGFLT4:8:1202:48157:5050,LH00995:48:23YTGFLT4:8:1418:50802:16890,LH00995:48:23YTGFLT4:8:2126:43335:6927,LH00995:48:23YTGFLT4:8:2149:43092:27918,LH00995:48:23YTGFLT4:8:2167:6089:3368,LH00995:48:23YTGFLT4:8:2178:2464:1154,LH00995:48:23YTGFLT4:8:2240:21411:12784
DIAPH1 FP671120.4 -/- +/+ chr5:141574028 chr21:8214653 CDS intron translocation 49 0 0 6310 65535 low out-of-frame . Diaphanous_FH3_Domain(100%),Diaphanous_GTPase-binding_Domain(100%)| . . ENSG00000131504.17 ENSG00000278996.1 ENST00000647433.1 . upstream upstream duplicates(78),mismatches(25) TCTCTGCGGCAGCTATTACTGTACCTCCTTCTGTTCCTAGTCGTGCTCCTGTTCCCCCTGCCCCTCCTTTACCTGGTGACTCTGGCACTATTATTCCACCACCACCTGCTCCTGGGGATAGTACCACTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC SAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTT|rpsvrpssss LH00995:48:23YTGFLT4:1:1146:50689:19861,LH00995:48:23YTGFLT4:1:1258:4471:28506,LH00995:48:23YTGFLT4:1:1341:35180:28730,LH00995:48:23YTGFLT4:1:1349:16670:17717,LH00995:48:23YTGFLT4:1:1363:14381:11201,LH00995:48:23YTGFLT4:1:1367:44815:28688,LH00995:48:23YTGFLT4:1:1450:47906:5764,LH00995:48:23YTGFLT4:1:1479:18903:13597,LH00995:48:23YTGFLT4:1:2153:44265:24064,LH00995:48:23YTGFLT4:1:2208:9341:1855,LH00995:48:23YTGFLT4:1:2208:9357:1855,LH00995:48:23YTGFLT4:1:2225:11379:23434,LH00995:48:23YTGFLT4:1:2233:36879:8469,LH00995:48:23YTGFLT4:1:2237:17657:12504,LH00995:48:23YTGFLT4:1:2260:52153:13877,LH00995:48:23YTGFLT4:1:2305:8677:14466,LH00995:48:23YTGFLT4:1:2362:21718:4965,LH00995:48:23YTGFLT4:1:2455:34015:24583,LH00995:48:23YTGFLT4:1:2493:42178:15657,LH00995:48:23YTGFLT4:2:1127:32082:20617,LH00995:48:23YTGFLT4:2:1181:43618:1925,LH00995:48:23YTGFLT4:2:1190:37332:9449,LH00995:48:23YTGFLT4:2:1190:37348:9449,LH00995:48:23YTGFLT4:2:1235:31960:7936,LH00995:48:23YTGFLT4:2:1474:25076:22383,LH00995:48:23YTGFLT4:2:2167:11978:11663,LH00995:48:23YTGFLT4:2:2205:6760:18796,LH00995:48:23YTGFLT4:2:2347:2448:2724,LH00995:48:23YTGFLT4:2:2364:10700:9898,LH00995:48:23YTGFLT4:2:2455:7957:17058,LH00995:48:23YTGFLT4:3:1103:5409:20211,LH00995:48:23YTGFLT4:3:1114:43489:16778,LH00995:48:23YTGFLT4:3:1114:43505:16778,LH00995:48:23YTGFLT4:3:1149:38829:17506,LH00995:48:23YTGFLT4:3:1308:3111:15671,LH00995:48:23YTGFLT4:3:1335:21476:15559,LH00995:48:23YTGFLT4:3:1380:25343:15531,LH00995:48:23YTGFLT4:3:1390:12415:28422,LH00995:48:23YTGFLT4:3:1390:12423:28408,LH00995:48:23YTGFLT4:3:1426:5927:12644,LH00995:48:23YTGFLT4:3:1442:19478:8623,LH00995:48:23YTGFLT4:3:1483:31394:14634,LH00995:48:23YTGFLT4:3:1485:20934:8286,LH00995:48:23YTGFLT4:3:1489:39395:27371,LH00995:48:23YTGFLT4:3:2126:39088:27399,LH00995:48:23YTGFLT4:3:2162:36685:6451,LH00995:48:23YTGFLT4:3:2162:9300:23504,LH00995:48:23YTGFLT4:3:2170:26119:18585,LH00995:48:23YTGFLT4:3:2189:38683:21066,LH00995:48:23YTGFLT4:3:2252:12722:11719,LH00995:48:23YTGFLT4:3:2283:15214:5722,LH00995:48:23YTGFLT4:3:2310:17131:19804,LH00995:48:23YTGFLT4:3:2390:15530:18151,LH00995:48:23YTGFLT4:3:2438:50519:12000,LH00995:48:23YTGFLT4:3:2439:31564:1953,LH00995:48:23YTGFLT4:3:2443:39241:23882,LH00995:48:23YTGFLT4:3:2447:13297:26502,LH00995:48:23YTGFLT4:3:2456:25634:18025,LH00995:48:23YTGFLT4:3:2456:25650:18025,LH00995:48:23YTGFLT4:3:2457:33441:14480,LH00995:48:23YTGFLT4:4:1163:21710:12602,LH00995:48:23YTGFLT4:4:1267:39953:12981,LH00995:48:23YTGFLT4:4:1303:1809:6409,LH00995:48:23YTGFLT4:4:2162:6469:21234,LH00995:48:23YTGFLT4:4:2205:37146:25774,LH00995:48:23YTGFLT4:4:2233:38254:24835,LH00995:48:23YTGFLT4:4:2238:45592:7698,LH00995:48:23YTGFLT4:4:2303:36305:27792,LH00995:48:23YTGFLT4:4:2338:25213:15307,LH00995:48:23YTGFLT4:4:2358:22115:11061,LH00995:48:23YTGFLT4:4:2417:47582:3718,LH00995:48:23YTGFLT4:4:2445:39759:10234,LH00995:48:23YTGFLT4:5:1106:45875:27834,LH00995:48:23YTGFLT4:5:1213:13305:12252,LH00995:48:23YTGFLT4:5:1251:46943:18417,LH00995:48:23YTGFLT4:5:1252:45260:8805,LH00995:48:23YTGFLT4:5:1255:16444:14942,LH00995:48:23YTGFLT4:5:1275:23498:3620,LH00995:48:23YTGFLT4:5:1310:8208:6367,LH00995:48:23YTGFLT4:5:1343:47825:13947,LH00995:48:23YTGFLT4:5:1366:48335:28338,LH00995:48:23YTGFLT4:5:1405:45131:6311,LH00995:48:23YTGFLT4:5:1439:24275:4657,LH00995:48:23YTGFLT4:5:1460:1105:8581,LH00995:48:23YTGFLT4:5:1489:26823:7530,LH00995:48:23YTGFLT4:5:2222:37284:10038,LH00995:48:23YTGFLT4:5:2385:25497:19188,LH00995:48:23YTGFLT4:5:2417:44937:24218,LH00995:48:23YTGFLT4:5:2442:37033:20589,LH00995:48:23YTGFLT4:5:2442:37041:20603,LH00995:48:23YTGFLT4:5:2496:32373:24401,LH00995:48:23YTGFLT4:6:1158:40261:8525,LH00995:48:23YTGFLT4:6:1194:6801:23714,LH00995:48:23YTGFLT4:6:1196:22487:26699,LH00995:48:23YTGFLT4:6:1242:11412:10851,LH00995:48:23YTGFLT4:6:1248:20618:21248,LH00995:48:23YTGFLT4:6:1252:40487:5470,LH00995:48:23YTGFLT4:6:1252:40495:5456,LH00995:48:23YTGFLT4:6:1294:21921:13919,LH00995:48:23YTGFLT4:6:1334:38991:5568,LH00995:48:23YTGFLT4:6:1337:24825:10178,LH00995:48:23YTGFLT4:6:1368:51320:9379,LH00995:48:23YTGFLT4:6:1371:43505:2766,LH00995:48:23YTGFLT4:6:1386:5563:5904,LH00995:48:23YTGFLT4:6:1386:5579:5904,LH00995:48:23YTGFLT4:6:1409:33514:4657,LH00995:48:23YTGFLT4:6:1435:43133:5876,LH00995:48:23YTGFLT4:6:2143:16015:17338,LH00995:48:23YTGFLT4:6:2324:19291:5498,LH00995:48:23YTGFLT4:6:2341:48213:11313,LH00995:48:23YTGFLT4:6:2429:49920:21584,LH00995:48:23YTGFLT4:7:1109:7181:2541,LH00995:48:23YTGFLT4:7:1133:49127:3508,LH00995:48:23YTGFLT4:7:1217:5660:10164,LH00995:48:23YTGFLT4:7:1263:4204:4531,LH00995:48:23YTGFLT4:7:1280:9219:12126,LH00995:48:23YTGFLT4:7:1312:42696:23420,LH00995:48:23YTGFLT4:7:1344:41846:20519,LH00995:48:23YTGFLT4:7:1363:21678:27707,LH00995:48:23YTGFLT4:7:1407:23142:13765,LH00995:48:23YTGFLT4:7:2115:22309:2681,LH00995:48:23YTGFLT4:7:2158:48035:12434,LH00995:48:23YTGFLT4:7:2189:17536:28800,LH00995:48:23YTGFLT4:7:2192:42890:26839,LH00995:48:23YTGFLT4:7:2212:34112:16484,LH00995:48:23YTGFLT4:7:2295:41434:26951,LH00995:48:23YTGFLT4:7:2340:36321:23280,LH00995:48:23YTGFLT4:7:2369:49985:3004,LH00995:48:23YTGFLT4:7:2434:5441:29515,LH00995:48:23YTGFLT4:7:2466:16347:29655,LH00995:48:23YTGFLT4:8:1147:45535:20631,LH00995:48:23YTGFLT4:8:1246:20974:4769,LH00995:48:23YTGFLT4:8:1261:31491:1743,LH00995:48:23YTGFLT4:8:1301:25772:18768,LH00995:48:23YTGFLT4:8:1337:15319:22439,LH00995:48:23YTGFLT4:8:1344:9608:3943,LH00995:48:23YTGFLT4:8:1360:21185:22257,LH00995:48:23YTGFLT4:8:1371:7521:5316,LH00995:48:23YTGFLT4:8:1386:2618:13555,LH00995:48:23YTGFLT4:8:1413:10926:16091,LH00995:48:23YTGFLT4:8:1413:10935:16077,LH00995:48:23YTGFLT4:8:1413:10943:16091,LH00995:48:23YTGFLT4:8:1470:30609:11061,LH00995:48:23YTGFLT4:8:1485:11808:21794,LH00995:48:23YTGFLT4:8:1491:35261:27357,LH00995:48:23YTGFLT4:8:2141:50754:25802,LH00995:48:23YTGFLT4:8:2186:20473:9590,LH00995:48:23YTGFLT4:8:2405:6792:26334,LH00995:48:23YTGFLT4:8:2442:17949:28058,LH00995:48:23YTGFLT4:8:2461:12391:5036,LH00995:48:23YTGFLT4:8:2482:8904:16231,LH00995:48:23YTGFLT4:8:2482:8912:16245
SBNO1 SBNO1 -/- -/- chr12:123321621 chr12:123321719 CDS CDS duplication/ITD 23 26 0 1113 990 low in-frame . P-loop_containing_NTP_hydrolase_pore-1(100%)|C-terminal_domain_on_Strawberry_notch_homologue(100%) . . ENSG00000139697.14 ENSG00000139697.14 ENST00000602398.3 ENST00000602398.3 upstream downstream duplicates(41) AGGTGAAGAAATAACTCGAGAAGCCAAAAAAGCACGAAAAGTAGGTGGCCTTACTGGTAGCAGTTCTGACGACAGTGGAAGTGAATCTGATGCCTCTGATAATGAAGAAA|taac|TCGAGAAGCCAAAAAAGCACGAAAAGTAGGTGGCCTTACTGGTAGCAGTTCTGACGACAGTGGAAGTGAATCTGATGCCTCTGATAATGAAGAAAtaac GEEITREAKKARKVGGLTGSSSDDSGSESDASDNEE|it|REAKKARKVGGLTGSSSDDSGSESDASDNEEi LH00995:48:23YTGFLT4:2:1195:49548:21472,LH00995:48:23YTGFLT4:2:1387:21039:26292,LH00995:48:23YTGFLT4:2:1429:28174:13961,LH00995:48:23YTGFLT4:2:1440:24404:23097,LH00995:48:23YTGFLT4:2:1441:40010:17310,LH00995:48:23YTGFLT4:2:1484:33732:28212,LH00995:48:23YTGFLT4:2:2226:44945:1981,LH00995:48:23YTGFLT4:3:2201:17924:26783,LH00995:48:23YTGFLT4:3:2485:45115:21920,LH00995:48:23YTGFLT4:4:1111:29485:28618,LH00995:48:23YTGFLT4:4:1357:13806:5442,LH00995:48:23YTGFLT4:4:1402:6186:7600,LH00995:48:23YTGFLT4:5:1141:24963:15741,LH00995:48:23YTGFLT4:5:1180:51935:3158,LH00995:48:23YTGFLT4:5:1404:50414:17591,LH00995:48:23YTGFLT4:5:2102:40625:22159,LH00995:48:23YTGFLT4:5:2238:8734:27792,LH00995:48:23YTGFLT4:5:2354:45600:14802,LH00995:48:23YTGFLT4:5:2429:3346:2009,LH00995:48:23YTGFLT4:5:2447:19736:5540,LH00995:48:23YTGFLT4:5:2462:46539:17240,LH00995:48:23YTGFLT4:5:2462:48739:18417,LH00995:48:23YTGFLT4:6:1425:15489:12224,LH00995:48:23YTGFLT4:6:1425:15489:12224,LH00995:48:23YTGFLT4:6:1425:15497:12238,LH00995:48:23YTGFLT4:6:2272:35577:2850,LH00995:48:23YTGFLT4:6:2346:16104:22733,LH00995:48:23YTGFLT4:6:2415:10692:27063,LH00995:48:23YTGFLT4:7:1192:37041:5162,LH00995:48:23YTGFLT4:7:1346:2343:6633,LH00995:48:23YTGFLT4:7:1385:7100:26811,LH00995:48:23YTGFLT4:7:1407:1477:1378,LH00995:48:23YTGFLT4:7:2124:15708:26923,LH00995:48:23YTGFLT4:7:2246:13677:22481,LH00995:48:23YTGFLT4:8:1497:23911:26839,LH00995:48:23YTGFLT4:8:2301:16112:26895,LH00995:48:23YTGFLT4:1:2472:22665:4167,LH00995:48:23YTGFLT4:1:2472:22665:4167,LH00995:48:23YTGFLT4:2:1276:18782:18852,LH00995:48:23YTGFLT4:2:1276:18782:18852,LH00995:48:23YTGFLT4:4:2136:14357:1238,LH00995:48:23YTGFLT4:4:2136:14357:1238,LH00995:48:23YTGFLT4:8:2165:47251:20155,LH00995:48:23YTGFLT4:2:1195:49548:21472,LH00995:48:23YTGFLT4:2:1260:12900:19426,LH00995:48:23YTGFLT4:2:1286:14842:7964,LH00995:48:23YTGFLT4:2:1387:21039:26292,LH00995:48:23YTGFLT4:2:1429:28174:13961,LH00995:48:23YTGFLT4:2:1440:24404:23097,LH00995:48:23YTGFLT4:2:1441:40010:17310,LH00995:48:23YTGFLT4:2:1484:33732:28212,LH00995:48:23YTGFLT4:2:2226:44945:1981,LH00995:48:23YTGFLT4:3:2201:17924:26783,LH00995:48:23YTGFLT4:3:2485:45115:21920,LH00995:48:23YTGFLT4:4:1111:29485:28618,LH00995:48:23YTGFLT4:4:1357:13806:5442,LH00995:48:23YTGFLT4:4:1402:6186:7600,LH00995:48:23YTGFLT4:5:1141:24963:15741,LH00995:48:23YTGFLT4:5:1180:51935:3158,LH00995:48:23YTGFLT4:5:1404:50414:17591,LH00995:48:23YTGFLT4:5:1451:22519:6409,LH00995:48:23YTGFLT4:5:2102:40625:22159,LH00995:48:23YTGFLT4:5:2238:8734:27792,LH00995:48:23YTGFLT4:5:2354:45600:14802,LH00995:48:23YTGFLT4:5:2429:3346:2009,LH00995:48:23YTGFLT4:5:2447:19736:5540,LH00995:48:23YTGFLT4:5:2462:46539:17240,LH00995:48:23YTGFLT4:5:2462:48739:18417,LH00995:48:23YTGFLT4:6:1425:15497:12238,LH00995:48:23YTGFLT4:6:2272:35577:2850,LH00995:48:23YTGFLT4:6:2346:16104:22733,LH00995:48:23YTGFLT4:6:2415:10692:27063,LH00995:48:23YTGFLT4:7:1192:37041:5162,LH00995:48:23YTGFLT4:7:1346:2343:6633,LH00995:48:23YTGFLT4:7:1362:18588:29361,LH00995:48:23YTGFLT4:7:1385:7100:26811,LH00995:48:23YTGFLT4:7:1407:1477:1378,LH00995:48:23YTGFLT4:7:2124:15708:26923,LH00995:48:23YTGFLT4:7:2246:13677:22481,LH00995:48:23YTGFLT4:8:1497:23911:26839,LH00995:48:23YTGFLT4:8:2301:16112:26895,LH00995:48:23YTGFLT4:8:2384:40301:25746,LH00995:48:23YTGFLT4:2:1260:12900:19426,LH00995:48:23YTGFLT4:2:1286:14842:7964,LH00995:48:23YTGFLT4:5:1451:22519:6409,LH00995:48:23YTGFLT4:7:1362:18588:29361,LH00995:48:23YTGFLT4:8:2384:40301:25746,LH00995:48:23YTGFLT4:2:2495:29428:23812,LH00995:48:23YTGFLT4:3:1390:20408:5722,LH00995:48:23YTGFLT4:5:2491:35965:10080
CDKN2B CDKN2B-AS1 -/- +/+ chr9:22005652 chr9:22014809 3'UTR exon inversion 32 14 0 2635 23 low . . . . . ENSG00000147883.12 ENSG00000240498.9 ENST00000276925.7 ENST00000651588.1 upstream upstream duplicates(40),mismatches(5) TGGCCCTCGACACTCACCATGAAGCGAAACACAGAGAAGCGGATTTCCAGGGATATTTAGGAGTGTGTGACATTCCAGGGGTCGTTTGCTTTTCAGGGTTTTCTGAGGGAAAGTGCATATGAAATCCTTGACTGGACCTGGTGG|TgCATGTGTTCTCATTGTTCAATTCCCATCTATGAGTGAGAACATGGCGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTACTGAGAATAATGATTTCCAATTTCATCCATGTCCCTACAAAG . LH00995:48:23YTGFLT4:1:1328:34800:25465,LH00995:48:23YTGFLT4:1:1389:29299:20757,LH00995:48:23YTGFLT4:1:2109:31645:27707,LH00995:48:23YTGFLT4:1:2139:29242:17745,LH00995:48:23YTGFLT4:1:2427:27438:19188,LH00995:48:23YTGFLT4:2:1205:22511:24779,LH00995:48:23YTGFLT4:2:1267:43699:16918,LH00995:48:23YTGFLT4:2:1297:1922:25493,LH00995:48:23YTGFLT4:2:1329:29461:13471,LH00995:48:23YTGFLT4:2:1472:23927:9211,LH00995:48:23YTGFLT4:2:2147:40471:28422,LH00995:48:23YTGFLT4:2:2194:1202:19762,LH00995:48:23YTGFLT4:2:2251:45236:10276,LH00995:48:23YTGFLT4:2:2251:45244:10262,LH00995:48:23YTGFLT4:2:2271:27066:28268,LH00995:48:23YTGFLT4:2:2291:30973:16512,LH00995:48:23YTGFLT4:2:2390:12180:5344,LH00995:48:23YTGFLT4:2:2470:37518:17422,LH00995:48:23YTGFLT4:2:2478:25456:3396,LH00995:48:23YTGFLT4:3:1110:47736:20715,LH00995:48:23YTGFLT4:3:1255:43052:17030,LH00995:48:23YTGFLT4:3:2281:1801:21388,LH00995:48:23YTGFLT4:3:2289:35706:17815,LH00995:48:23YTGFLT4:3:2289:35714:17801,LH00995:48:23YTGFLT4:3:2486:9009:20589,LH00995:48:23YTGFLT4:4:1145:35075:25970,LH00995:48:23YTGFLT4:4:1145:35091:25970,LH00995:48:23YTGFLT4:4:1298:13596:18613,LH00995:48:23YTGFLT4:4:1298:13604:18627,LH00995:48:23YTGFLT4:4:1298:13612:18613,LH00995:48:23YTGFLT4:4:1337:12391:18768,LH00995:48:23YTGFLT4:4:1372:23239:12476,LH00995:48:23YTGFLT4:4:1442:39161:7852,LH00995:48:23YTGFLT4:4:1459:34023:9015,LH00995:48:23YTGFLT4:4:2204:41757:26530,LH00995:48:23YTGFLT4:4:2204:41766:26516,LH00995:48:23YTGFLT4:4:2263:30286:6605,LH00995:48:23YTGFLT4:4:2463:38594:17829,LH00995:48:23YTGFLT4:5:1158:40754:6465,LH00995:48:23YTGFLT4:5:1274:45689:5764,LH00995:48:23YTGFLT4:5:1291:35156:23532,LH00995:48:23YTGFLT4:5:1364:10975:12280,LH00995:48:23YTGFLT4:5:1376:32041:2471,LH00995:48:23YTGFLT4:5:1423:51474:3648,LH00995:48:23YTGFLT4:5:1423:51482:3634,LH00995:48:23YTGFLT4:5:2150:26370:21654,LH00995:48:23YTGFLT4:5:2292:29396:19636,LH00995:48:23YTGFLT4:5:2337:50899:11173,LH00995:48:23YTGFLT4:5:2348:33271:21640,LH00995:48:23YTGFLT4:5:2472:12043:17156,LH00995:48:23YTGFLT4:5:2479:9219:14844,LH00995:48:23YTGFLT4:6:1114:2044:29683,LH00995:48:23YTGFLT4:6:1342:48246:5316,LH00995:48:23YTGFLT4:6:2149:51304:5428,LH00995:48:23YTGFLT4:6:2456:36491:25760,LH00995:48:23YTGFLT4:7:1161:28684:29585,LH00995:48:23YTGFLT4:7:1312:33829:20141,LH00995:48:23YTGFLT4:7:2318:39573:9491,LH00995:48:23YTGFLT4:7:2360:11485:29109,LH00995:48:23YTGFLT4:7:2471:30342:5694,LH00995:48:23YTGFLT4:8:1161:19688:2317,LH00995:48:23YTGFLT4:8:1347:8702:16189,LH00995:48:23YTGFLT4:8:2103:6356:6745,LH00995:48:23YTGFLT4:8:2104:12213:4307,LH00995:48:23YTGFLT4:8:2242:20934:4419,LH00995:48:23YTGFLT4:8:2465:4438:14214,LH00995:48:23YTGFLT4:1:1301:17940:28044,LH00995:48:23YTGFLT4:1:2494:20990:9141,LH00995:48:23YTGFLT4:2:1364:17447:29599,LH00995:48:23YTGFLT4:2:2158:13596:23574,LH00995:48:23YTGFLT4:2:2227:29380:9295,LH00995:48:23YTGFLT4:2:2280:48229:10781,LH00995:48:23YTGFLT4:2:2341:21039:7964,LH00995:48:23YTGFLT4:2:2490:21379:1687,LH00995:48:23YTGFLT4:3:1167:11533:11817,LH00995:48:23YTGFLT4:3:1422:44872:20996,LH00995:48:23YTGFLT4:4:1287:21654:19594,LH00995:48:23YTGFLT4:4:2252:50349:2625,LH00995:48:23YTGFLT4:4:2307:12375:19889,LH00995:48:23YTGFLT4:5:1122:51838:1168,LH00995:48:23YTGFLT4:5:1411:30852:29389,LH00995:48:23YTGFLT4:5:1484:6404:6857,LH00995:48:23YTGFLT4:5:1494:46425:5582,LH00995:48:23YTGFLT4:5:2171:49742:7348,LH00995:48:23YTGFLT4:6:2212:3265:9323,LH00995:48:23YTGFLT4:6:2212:3273:9309,LH00995:48:23YTGFLT4:6:2450:42623:5806,LH00995:48:23YTGFLT4:7:2435:23150:15152,LH00995:48:23YTGFLT4:8:1220:43076:1995,LH00995:48:23YTGFLT4:8:1324:40908:23013,LH00995:48:23YTGFLT4:8:2463:43748:10332
VIM FP671120.4 +/+ +/+ chr10:17229423 chr21:8214652 CDS intron translocation 43 0 0 58265 65535 low out-of-frame . . . . ENSG00000026025.16 ENSG00000278996.1 ENST00000544301.7 . downstream upstream duplicates(20),mismatches(23) CGCCAGAGACGCAGCCGCGCTCCCACCACCCACACCCACCGCGCCCTCGTTCGCCTCTTCTCCGGGAGCCAGTCCGCGCCACCGCCGCCGCCCAGGCCATCGCCACCCTCCGCAGCCA|CGTCCGTCCGTCCGTCCGTCCTCCTCCTCCC |tsvrpsvlll LH00995:48:23YTGFLT4:1:1143:21419:29333,LH00995:48:23YTGFLT4:1:1213:44265:17142,LH00995:48:23YTGFLT4:1:1386:51538:21108,LH00995:48:23YTGFLT4:1:1390:50228:25816,LH00995:48:23YTGFLT4:1:1392:20084:17633,LH00995:48:23YTGFLT4:1:1401:36636:12280,LH00995:48:23YTGFLT4:1:2109:28474:14340,LH00995:48:23YTGFLT4:1:2177:25933:15993,LH00995:48:23YTGFLT4:1:2188:1146:26699,LH00995:48:23YTGFLT4:1:2254:49758:13009,LH00995:48:23YTGFLT4:1:2282:45762:13177,LH00995:48:23YTGFLT4:1:2346:22042:24583,LH00995:48:23YTGFLT4:1:2427:16436:16498,LH00995:48:23YTGFLT4:2:1340:28368:11832,LH00995:48:23YTGFLT4:2:1344:14268:9099,LH00995:48:23YTGFLT4:2:1396:40940:15447,LH00995:48:23YTGFLT4:2:1492:27843:1953,LH00995:48:23YTGFLT4:2:2110:43772:25143,LH00995:48:23YTGFLT4:2:2141:37049:15236,LH00995:48:23YTGFLT4:2:2222:26872:17787,LH00995:48:23YTGFLT4:2:2261:2788:23153,LH00995:48:23YTGFLT4:2:2342:32616:10865,LH00995:48:23YTGFLT4:3:1114:22730:16245,LH00995:48:23YTGFLT4:3:2183:47598:24260,LH00995:48:23YTGFLT4:3:2183:47606:24274,LH00995:48:23YTGFLT4:3:2212:5053:13065,LH00995:48:23YTGFLT4:3:2245:22754:25199,LH00995:48:23YTGFLT4:3:2246:11970:2429,LH00995:48:23YTGFLT4:3:2268:8855:3760,LH00995:48:23YTGFLT4:3:2360:40156:11005,LH00995:48:23YTGFLT4:3:2459:33934:21920,LH00995:48:23YTGFLT4:3:2462:18191:8945,LH00995:48:23YTGFLT4:4:1150:26265:6367,LH00995:48:23YTGFLT4:4:1150:51029:10360,LH00995:48:23YTGFLT4:4:1158:47865:7151,LH00995:48:23YTGFLT4:4:1160:25950:17198,LH00995:48:23YTGFLT4:4:1229:26435:25269,LH00995:48:23YTGFLT4:4:2159:28911:3326,LH00995:48:23YTGFLT4:4:2235:44322:14830,LH00995:48:23YTGFLT4:4:2303:22600:20729,LH00995:48:23YTGFLT4:4:2418:17051:15152,LH00995:48:23YTGFLT4:4:2454:33951:14494,LH00995:48:23YTGFLT4:5:1123:49241:22873,LH00995:48:23YTGFLT4:5:1127:50503:25844,LH00995:48:23YTGFLT4:5:1308:33894:12406,LH00995:48:23YTGFLT4:5:1309:11218:4937,LH00995:48:23YTGFLT4:5:1318:22519:13331,LH00995:48:23YTGFLT4:5:1328:5174:13415,LH00995:48:23YTGFLT4:5:1392:34816:13891,LH00995:48:23YTGFLT4:5:2145:5692:27735,LH00995:48:23YTGFLT4:5:2175:46029:26923,LH00995:48:23YTGFLT4:5:2213:2003:22355,LH00995:48:23YTGFLT4:5:2308:21985:19833,LH00995:48:23YTGFLT4:5:2340:1445:14130,LH00995:48:23YTGFLT4:5:2472:18377:6269,LH00995:48:23YTGFLT4:6:1172:23854:6731,LH00995:48:23YTGFLT4:6:1172:43820:17661,LH00995:48:23YTGFLT4:6:1225:25723:9604,LH00995:48:23YTGFLT4:6:1366:25650:1771,LH00995:48:23YTGFLT4:6:1407:29671:9099,LH00995:48:23YTGFLT4:6:1489:38432:24583,LH00995:48:23YTGFLT4:6:2197:5191:22299,LH00995:48:23YTGFLT4:6:2208:12601:5596,LH00995:48:23YTGFLT4:6:2218:37389:13107,LH00995:48:23YTGFLT4:6:2232:39703:6100,LH00995:48:23YTGFLT4:6:2232:4414:20029,LH00995:48:23YTGFLT4:6:2273:50300:20869,LH00995:48:23YTGFLT4:7:1120:48998:17380,LH00995:48:23YTGFLT4:7:1185:6542:6058,LH00995:48:23YTGFLT4:7:1398:12512:20183,LH00995:48:23YTGFLT4:7:1465:35601:9253,LH00995:48:23YTGFLT4:7:1492:35196:27497,LH00995:48:23YTGFLT4:7:2101:36475:15811,LH00995:48:23YTGFLT4:7:2125:13467:29571,LH00995:48:23YTGFLT4:7:2203:24412:4895,LH00995:48:23YTGFLT4:7:2327:10312:9870,LH00995:48:23YTGFLT4:7:2495:19494:10444,LH00995:48:23YTGFLT4:8:1133:34703:12742,LH00995:48:23YTGFLT4:8:1316:27956:17815,LH00995:48:23YTGFLT4:8:1363:50414:9996,LH00995:48:23YTGFLT4:8:1369:2311:7362,LH00995:48:23YTGFLT4:8:1381:44791:5666,LH00995:48:23YTGFLT4:8:2273:49330:12966,LH00995:48:23YTGFLT4:8:2346:18563:2191,LH00995:48:23YTGFLT4:8:2369:15934:5064,LH00995:48:23YTGFLT4:8:2374:50632:11944
TCF20 FP671120.4 -/- +/+ chr22:42214590 chr21:8214653 CDS intron translocation 43 0 0 4230 65535 low out-of-frame . . . . ENSG00000100207.20 ENSG00000278996.1 ENST00000359486.8 . upstream upstream duplicates(76),mismatches(17),multimappers(1) CCCATCAGCCCCTGCCACAGGCCACTGGCCAACCAGCATCCAGCTCATCCCATCTACAGCCAATGCAGCGGCCCTCAACTCTGCCATCCTCTGCTGCTGGTTACCAGTTAAGAGTGGGTCAGTTTGGCCAACACTATCAGTCTTCTGC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC HQPLPQATGQPASSSSHLQPMQRPSTLPSSAAGYQLRVGQFGQHYQSSa|svrpsvlll LH00995:48:23YTGFLT4:1:1108:1987:18123,LH00995:48:23YTGFLT4:1:1126:35237:11005,LH00995:48:23YTGFLT4:1:1270:21985:27988,LH00995:48:23YTGFLT4:1:1270:21985:27988,LH00995:48:23YTGFLT4:1:1376:26928:17549,LH00995:48:23YTGFLT4:1:2145:48084:11874,LH00995:48:23YTGFLT4:1:2154:29137:25550,LH00995:48:23YTGFLT4:1:2161:45730:10542,LH00995:48:23YTGFLT4:1:2246:48432:18277,LH00995:48:23YTGFLT4:1:2315:32980:5554,LH00995:48:23YTGFLT4:1:2369:1550:13331,LH00995:48:23YTGFLT4:1:2401:34638:5932,LH00995:48:23YTGFLT4:1:2414:37737:10739,LH00995:48:23YTGFLT4:1:2485:29428:1925,LH00995:48:23YTGFLT4:1:2498:15554:3508,LH00995:48:23YTGFLT4:2:1129:16339:11733,LH00995:48:23YTGFLT4:2:1192:12981:3368,LH00995:48:23YTGFLT4:2:1230:38222:24667,LH00995:48:23YTGFLT4:2:1238:1898:3788,LH00995:48:23YTGFLT4:2:1257:3532:9870,LH00995:48:23YTGFLT4:2:1257:3540:9856,LH00995:48:23YTGFLT4:2:1326:18062:12532,LH00995:48:23YTGFLT4:2:1355:29760:1350,LH00995:48:23YTGFLT4:2:1410:2408:16946,LH00995:48:23YTGFLT4:2:1410:28223:11691,LH00995:48:23YTGFLT4:2:1410:28231:11677,LH00995:48:23YTGFLT4:2:1492:15230:25760,LH00995:48:23YTGFLT4:2:2105:19995:15321,LH00995:48:23YTGFLT4:2:2270:38780:6885,LH00995:48:23YTGFLT4:2:2290:33676:13261,LH00995:48:23YTGFLT4:2:2294:20238:13303,LH00995:48:23YTGFLT4:2:2371:1647:25213,LH00995:48:23YTGFLT4:3:1141:2756:23910,LH00995:48:23YTGFLT4:3:1141:2764:23924,LH00995:48:23YTGFLT4:3:1141:2780:23924,LH00995:48:23YTGFLT4:3:1205:44613:14858,LH00995:48:23YTGFLT4:3:1249:18337:14746,LH00995:48:23YTGFLT4:3:1258:5417:20785,LH00995:48:23YTGFLT4:3:1310:46636:25984,LH00995:48:23YTGFLT4:3:1360:49686:16526,LH00995:48:23YTGFLT4:3:1397:2068:14676,LH00995:48:23YTGFLT4:3:1397:2076:14690,LH00995:48:23YTGFLT4:3:2180:51061:13303,LH00995:48:23YTGFLT4:3:2285:7432:20603,LH00995:48:23YTGFLT4:3:2294:40358:10682,LH00995:48:23YTGFLT4:3:2311:10943:14970,LH00995:48:23YTGFLT4:3:2380:10748:14606,LH00995:48:23YTGFLT4:3:2406:49313:24429,LH00995:48:23YTGFLT4:3:2443:38271:7628,LH00995:48:23YTGFLT4:3:2483:1704:21276,LH00995:48:23YTGFLT4:3:2490:49241:19678,LH00995:48:23YTGFLT4:4:1127:6736:19762,LH00995:48:23YTGFLT4:4:1178:35285:22131,LH00995:48:23YTGFLT4:4:1253:46458:24863,LH00995:48:23YTGFLT4:4:1385:38740:4377,LH00995:48:23YTGFLT4:4:1424:48092:27693,LH00995:48:23YTGFLT4:4:1431:45026:4139,LH00995:48:23YTGFLT4:4:2171:26241:24513,LH00995:48:23YTGFLT4:4:2208:11679:11958,LH00995:48:23YTGFLT4:4:2302:22099:18039,LH00995:48:23YTGFLT4:4:2396:13895:7754,LH00995:48:23YTGFLT4:4:2492:46272:11930,LH00995:48:23YTGFLT4:5:1118:34662:24274,LH00995:48:23YTGFLT4:5:1142:28352:10122,LH00995:48:23YTGFLT4:5:1314:32591:20519,LH00995:48:23YTGFLT4:5:1405:12981:6199,LH00995:48:23YTGFLT4:5:1480:14357:9758,LH00995:48:23YTGFLT4:5:2115:37106:11187,LH00995:48:23YTGFLT4:5:2153:48286:26797,LH00995:48:23YTGFLT4:5:2306:7521:23195,LH00995:48:23YTGFLT4:5:2371:3662:29263,LH00995:48:23YTGFLT4:5:2374:49734:9015,LH00995:48:23YTGFLT4:6:1189:47000:26586,LH00995:48:23YTGFLT4:6:1294:3111:4545,LH00995:48:23YTGFLT4:6:1304:30666:13905,LH00995:48:23YTGFLT4:6:1310:4252:28997,LH00995:48:23YTGFLT4:6:1382:11792:11453,LH00995:48:23YTGFLT4:6:1422:31710:18515,LH00995:48:23YTGFLT4:6:1466:15983:1448,LH00995:48:23YTGFLT4:6:1466:15991:1462,LH00995:48:23YTGFLT4:6:1478:39072:1364,LH00995:48:23YTGFLT4:6:2139:10433:28044,LH00995:48:23YTGFLT4:6:2180:29097:4629,LH00995:48:23YTGFLT4:6:2193:34881:8286,LH00995:48:23YTGFLT4:6:2198:14429:3298,LH00995:48:23YTGFLT4:6:2257:29493:23840,LH00995:48:23YTGFLT4:6:2334:43990:17563,LH00995:48:23YTGFLT4:6:2390:6768:11775,LH00995:48:23YTGFLT4:6:2417:44678:4965,LH00995:48:23YTGFLT4:6:2431:10570:3901,LH00995:48:23YTGFLT4:6:2455:5789:18263,LH00995:48:23YTGFLT4:7:1170:45495:11986,LH00995:48:23YTGFLT4:7:1191:43230:27259,LH00995:48:23YTGFLT4:7:1217:20772:4979,LH00995:48:23YTGFLT4:7:1226:17932:16428,LH00995:48:23YTGFLT4:7:1274:52032:17170,LH00995:48:23YTGFLT4:7:1313:26395:27217,LH00995:48:23YTGFLT4:7:1341:4252:22299,LH00995:48:23YTGFLT4:7:1431:45406:28478,LH00995:48:23YTGFLT4:7:2110:35164:1575,LH00995:48:23YTGFLT4:7:2127:45285:3522,LH00995:48:23YTGFLT4:7:2249:21452:8286,LH00995:48:23YTGFLT4:7:2254:21233:14130,LH00995:48:23YTGFLT4:7:2271:50454:26040,LH00995:48:23YTGFLT4:7:2310:6194:13499,LH00995:48:23YTGFLT4:7:2310:6210:13499,LH00995:48:23YTGFLT4:7:2386:41288:5036,LH00995:48:23YTGFLT4:7:2386:41296:5022,LH00995:48:23YTGFLT4:7:2408:19130:25620,LH00995:48:23YTGFLT4:7:2472:8766:3130,LH00995:48:23YTGFLT4:7:2495:23951:9113,LH00995:48:23YTGFLT4:8:1106:9592:14172,LH00995:48:23YTGFLT4:8:1140:49702:13079,LH00995:48:23YTGFLT4:8:1156:40900:5708,LH00995:48:23YTGFLT4:8:1167:38214:18571,LH00995:48:23YTGFLT4:8:1171:13240:25984,LH00995:48:23YTGFLT4:8:1176:51441:20379,LH00995:48:23YTGFLT4:8:1218:44500:20071,LH00995:48:23YTGFLT4:8:1252:38748:19973,LH00995:48:23YTGFLT4:8:1263:37955:20337,LH00995:48:23YTGFLT4:8:1351:1396:10430,LH00995:48:23YTGFLT4:8:1351:1405:10416,LH00995:48:23YTGFLT4:8:1359:13273:27077,LH00995:48:23YTGFLT4:8:1409:12714:25830,LH00995:48:23YTGFLT4:8:2106:19178:21416,LH00995:48:23YTGFLT4:8:2109:28021:19048,LH00995:48:23YTGFLT4:8:2166:30715:20771,LH00995:48:23YTGFLT4:8:2166:38117:13835,LH00995:48:23YTGFLT4:8:2302:40536:29291,LH00995:48:23YTGFLT4:8:2353:13976:23308,LH00995:48:23YTGFLT4:8:2353:13993:23308,LH00995:48:23YTGFLT4:8:2368:36183:11075,LH00995:48:23YTGFLT4:8:2388:33044:18866,LH00995:48:23YTGFLT4:8:2402:42081:21486,LH00995:48:23YTGFLT4:8:2436:14971:11271
SETD1A FP671120.4 +/+ +/+ chr16:30964783 chr21:8214657 CDS intron translocation 38 0 0 9939 65535 low out-of-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)| . . ENSG00000099381.18 ENSG00000278996.1 ENST00000262519.14 . downstream upstream duplicates(149),mismatches(119) GTCAGAGAACAGCTACCAAGATGCCTTTTCCCGCCGCCACTTCTCTGCATCTTCAGCCTCCACAACCGCCTCCACGGCCATCGCCGCCACCACTGCAGCCACTGCCTCATCCTCCGCCTCTTCCTCCTCATTGTCCTCGTCC|GTCCGTCCGTCCGTCCTCCTCCTCCC SENSYQDAFSRRHFSASSASTTASTAIAATTAATASSSASSSSLSSS|vrpsvlll LH00995:48:23YTGFLT4:1:1102:6841:6969,LH00995:48:23YTGFLT4:1:1112:13467:10346,LH00995:48:23YTGFLT4:1:1112:13483:10346,LH00995:48:23YTGFLT4:1:1125:35439:19034,LH00995:48:23YTGFLT4:1:1151:51781:1350,LH00995:48:23YTGFLT4:1:1166:47056:17352,LH00995:48:23YTGFLT4:1:1167:51287:19973,LH00995:48:23YTGFLT4:1:1178:18410:11481,LH00995:48:23YTGFLT4:1:1218:44524:19076,LH00995:48:23YTGFLT4:1:1260:6477:26657,LH00995:48:23YTGFLT4:1:1289:3880:21710,LH00995:48:23YTGFLT4:1:1297:19923:19090,LH00995:48:23YTGFLT4:1:1327:38683:5848,LH00995:48:23YTGFLT4:1:1328:15238:5148,LH00995:48:23YTGFLT4:1:1330:19704:3130,LH00995:48:23YTGFLT4:1:1331:23086:23896,LH00995:48:23YTGFLT4:1:1331:4228:4741,LH00995:48:23YTGFLT4:1:1348:19049:10122,LH00995:48:23YTGFLT4:1:1354:42008:16512,LH00995:48:23YTGFLT4:1:1365:16088:7292,LH00995:48:23YTGFLT4:1:1401:26403:29165,LH00995:48:23YTGFLT4:1:1401:26411:29179,LH00995:48:23YTGFLT4:1:1416:37114:19973,LH00995:48:23YTGFLT4:1:1419:33692:4349,LH00995:48:23YTGFLT4:1:1432:47445:4125,LH00995:48:23YTGFLT4:1:1432:47461:4125,LH00995:48:23YTGFLT4:1:1434:41749:4713,LH00995:48:23YTGFLT4:1:1453:22762:20197,LH00995:48:23YTGFLT4:1:1471:5377:24330,LH00995:48:23YTGFLT4:1:2106:15958:22397,LH00995:48:23YTGFLT4:1:2115:29647:21612,LH00995:48:23YTGFLT4:1:2124:10368:16442,LH00995:48:23YTGFLT4:1:2128:2044:20968,LH00995:48:23YTGFLT4:1:2155:31038:10066,LH00995:48:23YTGFLT4:1:2185:45002:1995,LH00995:48:23YTGFLT4:1:2208:5854:1981,LH00995:48:23YTGFLT4:1:2209:48343:7586,LH00995:48:23YTGFLT4:1:2232:12569:8931,LH00995:48:23YTGFLT4:1:2242:28093:26208,LH00995:48:23YTGFLT4:1:2256:45010:23896,LH00995:48:23YTGFLT4:1:2261:4018:12000,LH00995:48:23YTGFLT4:1:2270:18992:10248,LH00995:48:23YTGFLT4:1:2273:40649:18109,LH00995:48:23YTGFLT4:1:2276:49508:27567,LH00995:48:23YTGFLT4:1:2283:38586:18235,LH00995:48:23YTGFLT4:1:2329:47404:19160,LH00995:48:23YTGFLT4:1:2345:24154:17843,LH00995:48:23YTGFLT4:1:2353:39055:9912,LH00995:48:23YTGFLT4:1:2356:15570:12588,LH00995:48:23YTGFLT4:1:2362:7715:4783,LH00995:48:23YTGFLT4:1:2379:42566:1953,LH00995:48:23YTGFLT4:1:2390:39670:22579,LH00995:48:23YTGFLT4:1:2406:46344:3564,LH00995:48:23YTGFLT4:1:2409:43230:26979,LH00995:48:23YTGFLT4:1:2411:33182:23027,LH00995:48:23YTGFLT4:1:2417:13143:29543,LH00995:48:23YTGFLT4:1:2419:3144:8553,LH00995:48:23YTGFLT4:1:2421:7796:21178,LH00995:48:23YTGFLT4:1:2455:20359:22929,LH00995:48:23YTGFLT4:1:2462:36475:21948,LH00995:48:23YTGFLT4:1:2462:36483:21934,LH00995:48:23YTGFLT4:1:2491:7059:19987,LH00995:48:23YTGFLT4:1:2491:7068:19973,LH00995:48:23YTGFLT4:1:2495:13556:19945,LH00995:48:23YTGFLT4:2:1105:47954:2625,LH00995:48:23YTGFLT4:2:1120:28741:19903,LH00995:48:23YTGFLT4:2:1135:10651:2780,LH00995:48:23YTGFLT4:2:1157:9689:28632,LH00995:48:23YTGFLT4:2:1165:4972:7404,LH00995:48:23YTGFLT4:2:1168:19105:13835,LH00995:48:23YTGFLT4:2:1170:26661:17899,LH00995:48:23YTGFLT4:2:1172:12326:23280,LH00995:48:23YTGFLT4:2:1187:18766:9968,LH00995:48:23YTGFLT4:2:1193:28692:21668,LH00995:48:23YTGFLT4:2:1193:28700:21654,LH00995:48:23YTGFLT4:2:1210:32106:29655,LH00995:48:23YTGFLT4:2:1210:32114:29641,LH00995:48:23YTGFLT4:2:1214:51603:4237,LH00995:48:23YTGFLT4:2:1218:44694:3424,LH00995:48:23YTGFLT4:2:1232:48294:22859,LH00995:48:23YTGFLT4:2:1238:28927:5456,LH00995:48:23YTGFLT4:2:1240:8880:19272,LH00995:48:23YTGFLT4:2:1250:30949:5260,LH00995:48:23YTGFLT4:2:1262:9624:10164,LH00995:48:23YTGFLT4:2:1274:35164:28142,LH00995:48:23YTGFLT4:2:1276:17156:10374,LH00995:48:23YTGFLT4:2:1328:10320:23167,LH00995:48:23YTGFLT4:2:1328:10336:23167,LH00995:48:23YTGFLT4:2:1340:23547:23266,LH00995:48:23YTGFLT4:2:1340:50648:20911,LH00995:48:23YTGFLT4:2:1348:15845:28618,LH00995:48:23YTGFLT4:2:1361:29161:25507,LH00995:48:23YTGFLT4:2:1385:8152:5372,LH00995:48:23YTGFLT4:2:1385:8160:5386,LH00995:48:23YTGFLT4:2:1420:19324:13569,LH00995:48:23YTGFLT4:2:1430:2036:17058,LH00995:48:23YTGFLT4:2:1432:42316:3788,LH00995:48:23YTGFLT4:2:1437:31095:27707,LH00995:48:23YTGFLT4:2:1448:14211:10795,LH00995:48:23YTGFLT4:2:1480:25399:14340,LH00995:48:23YTGFLT4:2:1492:37170:21304,LH00995:48:23YTGFLT4:2:1492:37178:21318,LH00995:48:23YTGFLT4:2:2106:17504:17450,LH00995:48:23YTGFLT4:2:2110:11800:21052,LH00995:48:23YTGFLT4:2:2127:40067:20631,LH00995:48:23YTGFLT4:2:2155:45681:24387,LH00995:48:23YTGFLT4:2:2184:17512:23658,LH00995:48:23YTGFLT4:2:2267:49653:5484,LH00995:48:23YTGFLT4:2:2271:34824:11411,LH00995:48:23YTGFLT4:2:2280:15643:10136,LH00995:48:23YTGFLT4:2:2280:33109:8861,LH00995:48:23YTGFLT4:2:2282:37178:18039,LH00995:48:23YTGFLT4:2:2283:24793:16400,LH00995:48:23YTGFLT4:2:2296:34687:4475,LH00995:48:23YTGFLT4:2:2310:26532:28100,LH00995:48:23YTGFLT4:2:2321:47364:4713,LH00995:48:23YTGFLT4:2:2367:31491:20603,LH00995:48:23YTGFLT4:2:2367:39233:17815,LH00995:48:23YTGFLT4:2:2381:8847:16161,LH00995:48:23YTGFLT4:2:2388:42041:23322,LH00995:48:23YTGFLT4:2:2401:8597:2219,LH00995:48:23YTGFLT4:2:2425:10959:7768,LH00995:48:23YTGFLT4:2:2456:35836:11341,LH00995:48:23YTGFLT4:2:2467:41596:4167,LH00995:48:23YTGFLT4:2:2470:14607:7306,LH00995:48:23YTGFLT4:3:1104:24429:27848,LH00995:48:23YTGFLT4: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ZFP36L2 FP671120.4 -/- +/+ chr2:43224910 chr21:8214657 CDS intron translocation 37 0 0 10732 65535 low out-of-frame . Tis11B_like_protein__N_terminus(100%),Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)| . . ENSG00000152518.8 ENSG00000278996.1 ENST00000282388.4 . upstream upstream duplicates(160),mismatches(106) GCACCACAGCCTCAGCTTCTCGGGCTTCCCGTCGGGCCACCATCAGCCCCCGGGCGGCCTCGAGTCGCCGCTGCTGCTCGACAGCCCCACGTCGCGCACGCCGCCGCCGCCCTCCTGCTCTTCGGCCTCGTCC|GTCCGTCCGTCCGTCCTCCTCCTCCC HHSLSFSGFPSGHHQPPGGLESPLLLDSPTSRTPPPPSCSSASS|vrpsvlll LH00995:48:23YTGFLT4:1:1101:30884:1420,LH00995:48:23YTGFLT4:1:1133:27009:19762,LH00995:48:23YTGFLT4:1:1146:23037:8623,LH00995:48:23YTGFLT4:1:1152:7019:17843,LH00995:48:23YTGFLT4:1:1154:20465:11509,LH00995:48:23YTGFLT4:1:1156:29897:10781,LH00995:48:23YTGFLT4:1:1174:38554:28268,LH00995:48:23YTGFLT4:1:1179:50883:5820,LH00995:48:23YTGFLT4:1:1180:10053:23574,LH00995:48:23YTGFLT4:1:1236:25715:28478,LH00995:48:23YTGFLT4:1:1236:25723:28492,LH00995:48:23YTGFLT4:1:1270:4228:15222,LH00995:48:23YTGFLT4:1:1297:50438:28338,LH00995:48:23YTGFLT4:1:1308:32058:18866,LH00995:48:23YTGFLT4:1:1310:38311:23784,LH00995:48:23YTGFLT4:1:1324:18992:16021,LH00995:48:23YTGFLT4:1:1336:29719:20813,LH00995:48:23YTGFLT4:1:1348:13451:7179,LH00995:48:23YTGFLT4:1:1384:42437:29081,LH00995:48:23YTGFLT4:1:1388:14243:3060,LH00995:48:23YTGFLT4:1:1393:42065:1392,LH00995:48:23YTGFLT4:1:1472:50195:8048,LH00995:48:23YTGFLT4:1:1476:23976:18095,LH00995:48:23YTGFLT4:1:2116:30488:15166,LH00995:48:23YTGFLT4:1:2117:48278:25830,LH00995:48:23YTGFLT4:1:2130:42623:11439,LH00995:48:23YTGFLT4:1:2132:45900:27876,LH00995:48:23YTGFLT4:1:2133:44419:8497,LH00995:48:23YTGFLT4:1:2133:44427:8483,LH00995:48:23YTGFLT4:1:2167:1930:23630,LH00995:48:23YTGFLT4:1:2169:42494:15559,LH00995:48:23YTGFLT4:1:2175:45649:7376,LH00995:48:23YTGFLT4:1:2185:12650:6353,LH00995:48:23YTGFLT4:1:2215:49767:25409,LH00995:48:23YTGFLT4:1:2236:23159:25199,LH00995:48:23YTGFLT4:1:2247:47922:2289,LH00995:48:23YTGFLT4:1:2290:18458:17899,LH00995:48:23YTGFLT4:1:2313:5328:6535,LH00995:48:23YTGFLT4:1:2339:32349:15110,LH00995:48:23YTGFLT4:1:2390:5862:29711,LH00995:48:23YTGFLT4:1:2405:44961:12546,LH00995:48:23YTGFLT4:1:2408:14429:14928,LH00995:48:23YTGFLT4:1:2466:36903:5064,LH00995:48:23YTGFLT4:1:2466:36920:5064,LH00995:48:23YTGFLT4:1:2492:11477:20015,LH00995:48:23YTGFLT4:1:2497:27487:7306,LH00995:48:23YTGFLT4:2:1104:7634:8959,LH00995:48:23YTGFLT4:2:1106:19680:6871,LH00995:48:23YTGFLT4:2:1113:11598:7614,LH00995:48:23YTGFLT4:2:1134:18806:15895,LH00995:48:23YTGFLT4:2:1134:18814:15881,LH00995:48:23YTGFLT4:2:1141:6606:3200,LH00995:48:23YTGFLT4:2:1158:12334:5946,LH00995:48:23YTGFLT4:2:1222:1995:19202,LH00995:48:23YTGFLT4:2:1303:7860:24457,LH00995:48:23YTGFLT4:2:1327:3354:1911,LH00995:48:23YTGFLT4:2:1372:38214:1813,LH00995:48:23YTGFLT4:2:1376:42882:26348,LH00995:48:23YTGFLT4:2:1379:27123:21780,LH00995:48:23YTGFLT4:2:1386:26208:16834,LH00995:48:23YTGFLT4:2:1402:20998:8427,LH00995:48:23YTGFLT4:2:1418:24623:3859,LH00995:48:23YTGFLT4:2:1418:24639:3859,LH00995:48:23YTGFLT4:2:1420:17220:13905,LH00995:48:23YTGFLT4:2:1420:17237:13905,LH00995:48:23YTGFLT4:2:1420:27746:9744,LH00995:48:23YTGFLT4:2:1420:27754:9730,LH00995:48:23YTGFLT4:2:1447:4600:29431,LH00995:48:23YTGFLT4:2:1467:1089:23350,LH00995:48:23YTGFLT4:2:1467:1097:23364,LH00995:48:23YTGFLT4:2:1481:47275:23784,LH00995:48:23YTGFLT4:2:1492:8054:24793,LH00995:48:23YTGFLT4:2:2115:42453:7193,LH00995:48:23YTGFLT4:2:2121:41191:16554,LH00995:48:23YTGFLT4:2:2125:39525:23980,LH00995:48:23YTGFLT4:2:2133:22163:26923,LH00995:48:23YTGFLT4:2:2137:26831:21052,LH00995:48:23YTGFLT4:2:2152:43966:18726,LH00995:48:23YTGFLT4:2:2169:43505:12798,LH00995:48:23YTGFLT4:2:2175:21961:12896,LH00995:48:23YTGFLT4:2:2176:32171:19538,LH00995:48:23YTGFLT4:2:2176:45171:17759,LH00995:48:23YTGFLT4:2:2187:40859:17829,LH00995:48:23YTGFLT4:2:2194:41240:17478,LH00995:48:23YTGFLT4:2:2220:2181:18599,LH00995:48:23YTGFLT4:2:2222:42049:16638,LH00995:48:23YTGFLT4:2:2290:50656:6465,LH00995:48:23YTGFLT4:2:2322:2675:28338,LH00995:48:23YTGFLT4:2:2334:25043:11958,LH00995:48:23YTGFLT4:2:2337:51004:24555,LH00995:48:23YTGFLT4:2:2361:43869:17997,LH00995:48:23YTGFLT4:2:2363:21152:9870,LH00995:48:23YTGFLT4:2:2389:43869:15307,LH00995:48:23YTGFLT4:2:2396:8443:5540,LH00995:48:23YTGFLT4:2:2404:43416:20743,LH00995:48:23YTGFLT4:2:2431:10837:25465,LH00995:48:23YTGFLT4:2:2452:33328:18936,LH00995:48:23YTGFLT4:2:2457:2998:7348,LH00995:48:23YTGFLT4:2:2460:46053:29011,LH00995:48:23YTGFLT4:3:1122:10926:29459,LH00995:48:23YTGFLT4:3:1145:8766:10893,LH00995:48:23YTGFLT4:3:1152:13540:27763,LH00995:48:23YTGFLT4:3:1186:9228:9982,LH00995:48:23YTGFLT4:3:1210:41086:23294,LH00995:48:23YTGFLT4:3:1226:3217:17254,LH00995:48:23YTGFLT4:3:1228:36418:2401,LH00995:48:23YTGFLT4:3:1229:2513:14662,LH00995:48:23YTGFLT4:3:1230:7003:28884,LH00995:48:23YTGFLT4:3:1235:12561:13093,LH00995:48:23YTGFLT4:3:1346:13184:17899,LH00995:48:23YTGFLT4:3:1361:47129:2625,LH00995:48:23YTGFLT4:3:1375:6695:13835,LH00995:48:23YTGFLT4:3:1415:48335:20968,LH00995:48:23YTGFLT4:3:1416:31232:17044,LH00995:48:23YTGFLT4:3:1439:2820:28898,LH00995:48:23YTGFLT4:3:1485:39387:16007,LH00995:48:23YTGFLT4:3:2102:1324:18599,LH00995:48:23YTGFLT4:3:2154:50834:22187,LH00995:48:23YTGFLT4:3:2171:41887:10865,LH00995:48:23YTGFLT4:3:2195:18822:24639,LH00995:48:23YTGFLT4:3:2195:3209:12952,LH00995:48:23YTGFLT4:3:2226:40099:26348,LH00995:48:23YTGFLT4:3:2227:45746:2191,LH00995:48:23YTGFLT4:3:2246:37146:25746,LH00995:48:23YTGFLT4:3:2314:46531:11061,LH00995:48:23YTGFLT4:3:2342:5773:5764,LH00995:48:23YTGFLT4:3:237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0995:48:23YTGFLT4:6:2225:5522:6563,LH00995:48:23YTGFLT4:6:2225:5530:6577,LH00995:48:23YTGFLT4:6:2255:48537:12546,LH00995:48:23YTGFLT4:6:2263:19486:20071,LH00995:48:23YTGFLT4:6:2274:18830:11285,LH00995:48:23YTGFLT4:6:2308:42615:5652,LH00995:48:23YTGFLT4:6:2327:9025:13779,LH00995:48:23YTGFLT4:6:2347:32155:29711,LH00995:48:23YTGFLT4:6:2347:32163:29725,LH00995:48:23YTGFLT4:6:2380:17698:22355,LH00995:48:23YTGFLT4:6:2382:38149:6997,LH00995:48:23YTGFLT4:6:2382:38165:6997,LH00995:48:23YTGFLT4:6:2455:48739:22761,LH00995:48:23YTGFLT4:6:2470:26524:29263,LH00995:48:23YTGFLT4:6:2474:43424:10472,LH00995:48:23YTGFLT4:7:1104:29347:22159,LH00995:48:23YTGFLT4:7:1114:37170:8889,LH00995:48:23YTGFLT4:7:1142:35221:28408,LH00995:48:23YTGFLT4:7:1193:19866:29697,LH00995:48:23YTGFLT4:7:1229:43028:8945,LH00995:48:23YTGFLT4:7:1246:27398:24779,LH00995:48:23YTGFLT4:7:1247:24186:14059,LH00995:48:23YTGFLT4:7:1248:38659:24246,LH00995:48:23YTGFLT4:7:1263:17083:26839,LH00995:48:23YTGFLT4:7:1265:51401:10080,LH00995:48:23YTGFLT4:7:1307:7658:12000,LH00995:48:23YTGFLT4:7:1310:12002:6044,LH00995:48:23YTGFLT4:7:1313:2036:17506,LH00995:48:23YTGFLT4:7:1342:29817:18908,LH00995:48:23YTGFLT4:7:1345:8677:21276,LH00995:48:23YTGFLT4:7:1373:26597:12322,LH00995:48:23YTGFLT4:7:1373:9664:20127,LH00995:48:23YTGFLT4:7:1373:9681:20127,LH00995:48:23YTGFLT4:7:1377:2464:25676,LH00995:48:23YTGFLT4:7:1381:30706:27175,LH00995:48:23YTGFLT4:7:1384:32947:16147,LH00995:48:23YTGFLT4:7:1384:32956:16161,LH00995:48:23YTGFLT4:7:1384:8920:1098,LH00995:48:23YTGFLT4:7:1386:40156:29501,LH00995:48:23YTGFLT4:7:1464:51093:13023,LH00995:48:23YTGFLT4:7:1467:12617:29613,LH00995:48:23YTGFLT4:7:1480:12828:8707,LH00995:48:23YTGFLT4:7:1495:18685:16161,LH00995:48:23YTGFLT4:7:2112:35455:3508,LH00995:48:23YTGFLT4:7:2125:4187:11005,LH00995:48:23YTGFLT4:7:2159:35002:15755,LH00995:48:23YTGFLT4:7:2162:29218:7474,LH00995:48:23YTGFLT4:7:2358:21136:23238,LH00995:48:23YTGFLT4:8:2217:51716:12756
SRRM2 FP671120.4 +/+ +/+ chr16:2769182 chr21:8214653 CDS intron translocation 36 0 0 21602 65535 low out-of-frame . cwf21_domain(100%)| . . ENSG00000167978.17 ENSG00000278996.1 ENST00000301740.13 . downstream upstream duplicates(103),low_entropy(11),mismatches(32) AGGGACGTCCTCCGGAGCCAACCCCAGCCAAACGGAAGAGGCGCTCTAGCAGTTCCAGTTCCAGCTCCTCCTCTTCATCTTCCTCCTCCTCCTCCTCCTCCTCTTCTTCCTCCTCCTCTTCCTCTTCTTCTTCTTCCTCCTCATC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC GRPPEPTPAKRKRRSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSs|svrpsvlll LH00995:48:23YTGFLT4:1:1110:36766:27161,LH00995:48:23YTGFLT4:1:1153:32972:25578,LH00995:48:23YTGFLT4:1:1182:43036:22663,LH00995:48:23YTGFLT4:1:1211:29889:17857,LH00995:48:23YTGFLT4:1:1229:33708:27749,LH00995:48:23YTGFLT4:1:1289:41620:25760,LH00995:48:23YTGFLT4:1:1322:39945:1645,LH00995:48:23YTGFLT4:1:1353:50859:28058,LH00995:48:23YTGFLT4:1:1367:22042:2611,LH00995:48:23YTGFLT4:1:1415:19227:1518,LH00995:48:23YTGFLT4:1:1432:25537:3004,LH00995:48:23YTGFLT4:1:1439:38238:6143,LH00995:48:23YTGFLT4:1:1468:35520:18277,LH00995:48:23YTGFLT4:1:2152:5862:1490,LH00995:48:23YTGFLT4:1:2358:21791:21178,LH00995:48:23YTGFLT4:1:2358:34800:19328,LH00995:48:23YTGFLT4:1:2359:17180:9800,LH00995:48:23YTGFLT4:1:2362:21759:27707,LH00995:48:23YTGFLT4:1:2475:46215:20575,LH00995:48:23YTGFLT4:2:1103:47218:21640,LH00995:48:23YTGFLT4:2:1132:32090:12392,LH00995:48:23YTGFLT4:2:1150:12561:7039,LH00995:48:23YTGFLT4:2:1160:9907:8693,LH00995:48:23YTGFLT4:2:1210:43117:29445,LH00995:48:23YTGFLT4:2:1238:19567:10542,LH00995:48:23YTGFLT4:2:1267:7723:13009,LH00995:48:23YTGFLT4:2:1376:40690:8707,LH00995:48:23YTGFLT4:2:1415:35908:12056,LH00995:48:23YTGFLT4:2:2141:13693:20968,LH00995:48:23YTGFLT4:2:2172:1267:11860,LH00995:48:23YTGFLT4:2:2205:8338:17128,LH00995:48:23YTGFLT4:2:2283:43748:5848,LH00995:48:23YTGFLT4:2:2357:45123:6549,LH00995:48:23YTGFLT4:2:2407:39929:11565,LH00995:48:23YTGFLT4:2:2447:9219:26783,LH00995:48:23YTGFLT4:2:2453:41571:8300,LH00995:48:23YTGFLT4:2:2455:43456:15937,LH00995:48:23YTGFLT4:3:1143:21807:22551,LH00995:48:23YTGFLT4:3:1145:26799:3760,LH00995:48:23YTGFLT4:3:1154:42906:5064,LH00995:48:23YTGFLT4:3:1171:16840:17815,LH00995:48:23YTGFLT4:3:1244:16371:16021,LH00995:48:23YTGFLT4:3:1244:22034:23252,LH00995:48:23YTGFLT4:3:1247:16420:17703,LH00995:48:23YTGFLT4:3:1325:28377:29193,LH00995:48:23YTGFLT4:3:1354:42955:6157,LH00995:48:23YTGFLT4:3:1361:17277:8847,LH00995:48:23YTGFLT4:3:1391:32737:27749,LH00995:48:23YTGFLT4:3:1431:10271:1981,LH00995:48:23YTGFLT4:3:1475:17665:11173,LH00995:48:23YTGFLT4:3:2115:47704:11663,LH00995:48:23YTGFLT4:3:2131:19073:13975,LH00995:48:23YTGFLT4:3:2156:17641:9085,LH00995:48:23YTGFLT4:3:2184:39428:29305,LH00995:48:23YTGFLT4:3:2206:10894:9505,LH00995:48:23YTGFLT4:3:2209:8508:9604,LH00995:48:23YTGFLT4:3:2252:51862:10795,LH00995:48:23YTGFLT4:3:2272:16695:22943,LH00995:48:23YTGFLT4:3:2317:11032:8903,LH00995:48:23YTGFLT4:3:2339:19259:17605,LH00995:48:23YTGFLT4:3:2356:46862:26713,LH00995:48:23YTGFLT4:3:2360:15635:21332,LH00995:48:23YTGFLT4:3:2441:21832:15503,LH00995:48:23YTGFLT4:3:2472:11056:8945,LH00995:48:23YTGFLT4:3:2481:36143:4475,LH00995:48:23YTGFLT4:3:2496:45317:4755,LH00995:48:23YTGFLT4:4:1122:41733:14242,LH00995:48:23YTGFLT4:4:1141:40641:20225,LH00995:48:23YTGFLT4:4:1193:35577:12462,LH00995:48:23YTGFLT4:4:1196:29679:4685,LH00995:48:23YTGFLT4:4:1240:23709:29123,LH00995:48:23YTGFLT4:4:1252:30164:25676,LH00995:48:23YTGFLT4:4:1284:44977:8595,LH00995:48:23YTGFLT4:4:1293:6356:25802,LH00995:48:23YTGFLT4:4:1298:11824:13919,LH00995:48:23YTGFLT4:4:1298:42825:20841,LH00995:48:23YTGFLT4:4:1321:46620:28114,LH00995:48:23YTGFLT4:4:1334:15594:24793,LH00995:48:23YTGFLT4:4:1358:13062:20771,LH00995:48:23YTGFLT4:4:1361:16492:3452,LH00995:48:23YTGFLT4:4:1423:42850:13541,LH00995:48:23YTGFLT4:4:1435:49969:7123,LH00995:48:23YTGFLT4:4:1480:3209:16428,LH00995:48:23YTGFLT4:4:2121:37195:23952,LH00995:48:23YTGFLT4:4:2171:50503:21108,LH00995:48:23YTGFLT4:4:2214:1671:15979,LH00995:48:23YTGFLT4:4:2214:1671:15979,LH00995:48:23YTGFLT4:4:2245:2351:1631,LH00995:48:23YTGFLT4:4:2302:49071:4307,LH00995:48:23YTGFLT4:4:2378:29881:4783,LH00995:48:23YTGFLT4:4:2433:7003:2205,LH00995:48:23YTGFLT4:5:1159:7043:9562,LH00995:48:23YTGFLT4:5:1213:7909:14844,LH00995:48:23YTGFLT4:5:1230:35164:17829,LH00995:48:23YTGFLT4:5:1248:46158:3802,LH00995:48:23YTGFLT4:5:1271:9697:14970,LH00995:48:23YTGFLT4:5:1305:30415:3746,LH00995:48:23YTGFLT4:5:1315:2383:8861,LH00995:48:23YTGFLT4:5:1321:5433:25690,LH00995:48:23YTGFLT4:5:1436:19105:25774,LH00995:48:23YTGFLT4:5:1449:43998:6479,LH00995:48:23YTGFLT4:5:1472:12504:14928,LH00995:48:23YTGFLT4:5:1472:42688:7544,LH00995:48:23YTGFLT4:5:1473:23911:27147,LH00995:48:23YTGFLT4:5:1474:22867:1378,LH00995:48:23YTGFLT4:5:2139:38457:1897,LH00995:48:23YTGFLT4:5:2262:22455:8875,LH00995:48:23YTGFLT4:5:2282:23401:6675,LH00995:48:23YTGFLT4:5:2283:32001:23616,LH00995:48:23YTGFLT4:5:2283:39217:12378,LH00995:48:23YTGFLT4:5:2317:37979:11187,LH00995:48:23YTGFLT4:5:2321:16654:9393,LH00995:48:23YTGFLT4:5:2341:25634:28366,LH00995:48:23YTGFLT4:5:2391:44031:9814,LH00995:48:23YTGFLT4:5:2427:2133:1701,LH00995:48:23YTGFLT4:5:2445:5312:5078,LH00995:48:23YTGFLT4:5:2472:38885:28422,LH00995:48:23YTGFLT4:5:2494:30609:26362,LH00995:48:23YTGFLT4:6:1146:40382:6521,LH00995:48:23YTGFLT4:6:1152:44702:4027,LH00995:48:23YTGFLT4:6:1162:37405:20281,LH00995:48:23YTGFLT4:6:1164:5231:14774,LH00995:48:23YTGFLT4:6:1180:7092:21836,LH00995:48:23YTGFLT4:6:1272:30828:3032,LH00995:48:23YTGFLT4:6:1272:30836:3046,LH00995:48:23YTGFLT4:6:1340:45333:11958,LH00995:48:23YTGFLT4:6:1413:26621:19959,LH00995:48:23YTGFLT4:6:1427:50867:20001,LH00995:48:23YTGFLT4:6:2107:43893:26642,LH00995:48:23YTGFLT4:6:2159:48432:9001,LH00995:48:23YTGFLT4:6:2236:42995:24134,LH00995:48:23YTGFLT4:6:2243:40487:20911,LH00995:48:23YTGFLT4:6:2274:2084:15293,LH00995:48:23YTGFLT4:6:2285:42930:20323,LH00995:48:23YTGFLT4:6:2312:40965:24597,LH00995:48:23YTGFLT4:6:2325:30237:20281,LH00995:48:23YTGFLT4:6:2362:16072:11495,LH00995:48:23YTGFLT4:6:2428:2788:7880,LH00995:48:23YTGFLT4:7:1115:17188:4601,LH00995:48:23YTGFLT4:7:1185:25901:22551,LH00995:48:23YTGFLT4:7:1235:37882:15194,LH00995:48:23YTGFLT4:7:1249:10182:24106,LH00995:48:23YTGFLT4:7:1252:15255:28072,LH00995:48:23YTGFLT4:7:1274:26208:7502,LH00995:48:23YTGFLT4:7:1320:49516:16988,LH00995:48:23YTGFLT4:7:1324:28975:29081,LH00995:48:23YTGFLT4:7:1332:48974:6016,LH00995:48:23YTGFLT4:7:1358:11331:17296,LH00995:48:23YTGFLT4:7:1374:27624:13485,LH00995:48:23YTGFLT4:7:1378:26872:7109,LH00995:48:23YTGFLT4:7:1378:50802:24232,LH00995:48:23YTGFLT4:7:1424:42639:10430,LH00995:48:23YTGFLT4:7:2162:46231:1322,LH00995:48:23YTGFLT4:7:2225:41935:16554,LH00995:48:23YTGFLT4:7:2258:17649:16414,LH00995:48:23YTGFLT4:7:2273:43788:21556,LH00995:48:23YTGFLT4:7:2279:12326:13471,LH00995:48:23YTGFLT4:7:2305:24259:24443,LH00995:48:23YTGFLT4:7:2361:16654:7039,LH00995:48:23YTGFLT4:7:2368:52121:27777,LH00995:48:23YTGFLT4:7:2465:20416:11481,LH00995:48:23YTGFLT4:8:1171:41046:24092,LH00995:48:23YTGFLT4:8:1229:18927:20954,LH00995:48:23YTGFLT4:8:1230:24412:13499,LH00995:48:23YTGFLT4:8:1261:25197:4601,LH00995:48:23YTGFLT4:8:1379:33263:8539,LH00995:48:23YTGFLT4:8:1392:48796:18487,LH00995:48:23YTGFLT4:8:1414:30051:23630,LH00995:48:23YTGFLT4:8:1424:14688:22383,LH00995:48:23YTGFLT4:8:1495:7472:18375,LH00995:48:23YTGFLT4:8:2105:34679:29431,LH00995:48:23YTGFLT4:8:2135:30893:22453,LH00995:48:23YTGFLT4:8:2165:16387:16778,LH00995:48:23YTGFLT4:8:2308:9389:9982,LH00995:48:23YTGFLT4:8:2311:6186:3816,LH00995:48:23YTGFLT4:8:2321:50826:26881,LH00995:48:23YTGFLT4:8:2387:14648:17016,LH00995:48:23YTGFLT4:8:2413:50956:24190,LH00995:48:23YTGFLT4:8:2470:29008:12938,LH00995:48:23YTGFLT4:8:2479:33910:14788,LH00995:48:23YTGFLT4:8:2481:27519:17366
CRTC2 FP236383.3 -/- +/+ chr1:153951483 chr21:8399953 CDS intron translocation 34 0 0 20825 55540 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 upstream duplicates(84),mismatches(3),multimappers(1) CTCCAGGCTTCCCTGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC LQASLSSPQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSa|prplslslp LH00995:48:23YTGFLT4:1:1123:7480:12588,LH00995:48:23YTGFLT4:1:1149:44184:1757,LH00995:48:23YTGFLT4:1:1169:43529:13681,LH00995:48:23YTGFLT4:1:1183:35779:4013,LH00995:48:23YTGFLT4:1:1189:37898:8413,LH00995:48:23YTGFLT4:1:1207:19324:9533,LH00995:48:23YTGFLT4:1:1219:51862:7123,LH00995:48:23YTGFLT4:1:1225:28733:10977,LH00995:48:23YTGFLT4:1:1287:16630:22747,LH00995:48:23YTGFLT4:1:2229:15983:16526,LH00995:48:23YTGFLT4:1:2374:35868:28520,LH00995:48:23YTGFLT4:1:2437:40204:21150,LH00995:48:23YTGFLT4:1:2463:33004:14928,LH00995:48:23YTGFLT4:1:2472:35423:26404,LH00995:48:23YTGFLT4:2:1162:41401:2878,LH00995:48:23YTGFLT4:2:1318:27713:15180,LH00995:48:23YTGFLT4:2:1379:10352:28912,LH00995:48:23YTGFLT4:2:1448:6129:23392,LH00995:48:23YTGFLT4:2:1452:6283:21416,LH00995:48:23YTGFLT4:2:1459:31168:13233,LH00995:48:23YTGFLT4:2:1469:10263:2667,LH00995:48:23YTGFLT4:2:1469:33797:10528,LH00995:48:23YTGFLT4:2:2156:6647:11817,LH00995:48:23YTGFLT4:2:2178:49233:9463,LH00995:48:23YTGFLT4:2:2253:38505:28912,LH00995:48:23YTGFLT4:2:2413:8313:5596,LH00995:48:23YTGFLT4:2:2472:7990:7221,LH00995:48:23YTGFLT4:2:2488:29606:23672,LH00995:48:23YTGFLT4:3:1129:42906:10865,LH00995:48:23YTGFLT4:3:1129:42914:10879,LH00995:48:23YTGFLT4:3:1129:49152:9379,LH00995:48:23YTGFLT4:3:1136:26904:10024,LH00995:48:23YTGFLT4:3:1140:11258:24148,LH00995:48:23YTGFLT4:3:1175:34250:20897,LH00995:48:23YTGFLT4:3:1312:19170:19608,LH00995:48:23YTGFLT4:3:2112:34072:11537,LH00995:48:23YTGFLT4:3:2183:30706:22663,LH00995:48:23YTGFLT4:3:2244:27899:27077,LH00995:48:23YTGFLT4:3:2249:16541:18473,LH00995:48:23YTGFLT4:3:2288:2796:4475,LH00995:48:23YTGFLT4:3:2313:38732:11481,LH00995:48:23YTGFLT4:3:2393:46587:21696,LH00995:48:23YTGFLT4:3:2472:26346:21808,LH00995:48:23YTGFLT4:4:1227:28919:20939,LH00995:48:23YTGFLT4:4:1267:3937:29095,LH00995:48:23YTGFLT4:4:1329:28603:25690,LH00995:48:23YTGFLT4:4:2123:27204:24583,LH00995:48:23YTGFLT4:4:2155:38554:21290,LH00995:48:23YTGFLT4:4:2192:33101:11817,LH00995:48:23YTGFLT4:4:2192:33117:11817,LH00995:48:23YTGFLT4:4:2271:38368:13401,LH00995:48:23YTGFLT4:4:2271:38384:13401,LH00995:48:23YTGFLT4:4:2320:9745:2583,LH00995:48:23YTGFLT4:4:2349:29655:7137,LH00995:48:23YTGFLT4:4:2349:46676:10024,LH00995:48:23YTGFLT4:4:2401:43359:18543,LH00995:48:23YTGFLT4:4:2417:31669:21360,LH00995:48:23YTGFLT4:5:1105:5983:4951,LH00995:48:23YTGFLT4:5:1108:23328:8847,LH00995:48:23YTGFLT4:5:1131:44451:11832,LH00995:48:23YTGFLT4:5:1131:44459:11817,LH00995:48:23YTGFLT4:5:1132:30342:3985,LH00995:48:23YTGFLT4:5:1304:11727:29361,LH00995:48:23YTGFLT4:5:1312:23879:1560,LH00995:48:23YTGFLT4:5:1324:42914:23490,LH00995:48:23YTGFLT4:5:1354:49087:4811,LH00995:48:23YTGFLT4:5:1354:49847:9435,LH00995:48:23YTGFLT4:5:1360:48998:16820,LH00995:48:23YTGFLT4:5:1369:48238:27497,LH00995:48:23YTGFLT4:5:2136:32923:26110,LH00995:48:23YTGFLT4:5:2160:7747:10837,LH00995:48:23YTGFLT4:5:2279:30181:18193,LH00995:48:23YTGFLT4:5:2291:1121:9674,LH00995:48:23YTGFLT4:5:2322:7909:15937,LH00995:48:23YTGFLT4:6:1134:15481:2878,LH00995:48:23YTGFLT4:6:1236:22204:13653,LH00995:48:23YTGFLT4:6:1236:22212:13639,LH00995:48:23YTGFLT4:6:1252:18159:22901,LH00995:48:23YTGFLT4:6:1267:32818:13569,LH00995:48:23YTGFLT4:6:1297:46021:23378,LH00995:48:23YTGFLT4:6:1393:46975:25732,LH00995:48:23YTGFLT4:6:2126:6873:6885,LH00995:48:23YTGFLT4:6:2195:26880:14970,LH00995:48:23YTGFLT4:6:2214:10198:25928,LH00995:48:23YTGFLT4:6:2260:36014:10697,LH00995:48:23YTGFLT4:6:2314:47598:21738,LH00995:48:23YTGFLT4:6:2389:41215:9281,LH00995:48:23YTGFLT4:6:2466:5061:21822,LH00995:48:23YTGFLT4:7:1116:50163:3200,LH00995:48:23YTGFLT4:7:1118:2019:8118,LH00995:48:23YTGFLT4:7:1143:7068:16554,LH00995:48:23YTGFLT4:7:1210:2578:24162,LH00995:48:23YTGFLT4:7:1314:1000:16666,LH00995:48:23YTGFLT4:7:1362:30205:9519,LH00995:48:23YTGFLT4:7:1420:43780:9491,LH00995:48:23YTGFLT4:7:2102:45738:3074,LH00995:48:23YTGFLT4:7:2193:1938:4167,LH00995:48:23YTGFLT4:7:2210:42138:21976,LH00995:48:23YTGFLT4:7:2223:43877:22551,LH00995:48:23YTGFLT4:7:2237:50042:17198,LH00995:48:23YTGFLT4:7:2388:33417:21976,LH00995:48:23YTGFLT4:7:2402:31637:13961,LH00995:48:23YTGFLT4:7:2454:4074:22018,LH00995:48:23YTGFLT4:8:1157:17633:11201,LH00995:48:23YTGFLT4:8:1224:25246:23378,LH00995:48:23YTGFLT4:8:1294:10570:24723,LH00995:48:23YTGFLT4:8:1351:27746:5288,LH00995:48:23YTGFLT4:8:1454:45851:12995,LH00995:48:23YTGFLT4:8:1488:40374:28254,LH00995:48:23YTGFLT4:8:1493:11954:27988,LH00995:48:23YTGFLT4:8:2143:7593:18501,LH00995:48:23YTGFLT4:8:2157:41855:27259,LH00995:48:23YTGFLT4:8:2213:47186:22145,LH00995:48:23YTGFLT4:8:2235:26484:22859,LH00995:48:23YTGFLT4:8:2252:27584:26811,LH00995:48:23YTGFLT4:8:2313:37543:27189,LH00995:48:23YTGFLT4:8:2319:8338:7207,LH00995:48:23YTGFLT4:8:2344:36467:11593,LH00995:48:23YTGFLT4:8:2379:31742:14984,LH00995:48:23YTGFLT4:8:2387:30650:23938,LH00995:48:23YTGFLT4:8:2397:27576:25732,LH00995:48:23YTGFLT4:8:2403:19599:5358
WIPF1 FP236383.3 -/- +/+ chr2:174571760 chr21:8397690 CDS intron translocation 28 0 0 34294 15838 low out-of-frame . WH2_motif(100%)| . . ENSG00000115935.18 ENSG00000280441.3 ENST00000272746.9 . upstream upstream duplicates(41) GTGCCTTCCACTCCGCGGCCTTCGGCCTCCTCACAGGCCCCACCTCCGCCGCCACCTCCCAGCAGGCCCGGGCCGCCTCCTCTGCCTCCAAGTTCCAGCGGCAATGACGAAACCCCAAGACTCCCACAGCGGAATCTGTCCCTCAGTTCGTCCACGCCCCCGTTAC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC VPSTPRPSASSQAPPPPPPPSRPGPPPLPPSSSGNDETPRLPQRNLSLSSSTPPL|rpsvrpssss LH00995:48:23YTGFLT4:1:1240:27284:5414,LH00995:48:23YTGFLT4:1:1265:34193:20463,LH00995:48:23YTGFLT4:1:1302:48723:25507,LH00995:48:23YTGFLT4:1:1343:29655:12266,LH00995:48:23YTGFLT4:1:1363:41337:2934,LH00995:48:23YTGFLT4:1:1368:39881:5120,LH00995:48:23YTGFLT4:1:1368:39897:5120,LH00995:48:23YTGFLT4:1:1382:33676:5050,LH00995:48:23YTGFLT4:1:2125:35205:6241,LH00995:48:23YTGFLT4:1:2298:32705:28674,LH00995:48:23YTGFLT4:1:2319:41507:21948,LH00995:48:23YTGFLT4:1:2320:41118:2275,LH00995:48:23YTGFLT4:1:2461:19114:21080,LH00995:48:23YTGFLT4:2:1118:17682:4167,LH00995:48:23YTGFLT4:2:1165:9422:10711,LH00995:48:23YTGFLT4:2:1165:9430:10725,LH00995:48:23YTGFLT4:2:1267:32907:4419,LH00995:48:23YTGFLT4:2:1317:36022:16315,LH00995:48:23YTGFLT4:2:2197:30496:20197,LH00995:48:23YTGFLT4:2:2236:2513:20715,LH00995:48:23YTGFLT4:2:2347:45099:23910,LH00995:48:23YTGFLT4:2:2348:35164:18193,LH00995:48:23YTGFLT4:2:2348:35172:18179,LH00995:48:23YTGFLT4:3:1121:19486:17773,LH00995:48:23YTGFLT4:3:1467:9486:19398,LH00995:48:23YTGFLT4:3:2198:23927:12266,LH00995:48:23YTGFLT4:3:2198:23935:12252,LH00995:48:23YTGFLT4:3:2226:13281:4307,LH00995:48:23YTGFLT4:3:2253:51490:27441,LH00995:48:23YTGFLT4:3:2354:2869:2920,LH00995:48:23YTGFLT4:3:2491:43804:20771,LH00995:48:23YTGFLT4:4:1120:8249:28044,LH00995:48:23YTGFLT4:4:1379:20384:13947,LH00995:48:23YTGFLT4:4:1486:23773:28058,LH00995:48:23YTGFLT4:4:2203:49831:16498,LH00995:48:23YTGFLT4:4:2222:11824:22243,LH00995:48:23YTGFLT4:4:2244:34145:25928,LH00995:48:23YTGFLT4:5:1104:37146:6801,LH00995:48:23YTGFLT4:5:1134:16484:19889,LH00995:48:23YTGFLT4:5:1134:16492:19903,LH00995:48:23YTGFLT4:5:1303:10522:25339,LH00995:48:23YTGFLT4:5:1438:38246:18768,LH00995:48:23YTGFLT4:6:1281:39678:13737,LH00995:48:23YTGFLT4:6:1281:40754:12322,LH00995:48:23YTGFLT4:6:1319:3872:24050,LH00995:48:23YTGFLT4:6:1319:3880:24036,LH00995:48:23YTGFLT4:6:1345:15805:22467,LH00995:48:23YTGFLT4:6:2120:4009:4867,LH00995:48:23YTGFLT4:6:2138:6267:6815,LH00995:48:23YTGFLT4:6:2191:46134:8581,LH00995:48:23YTGFLT4:6:2461:23660:26180,LH00995:48:23YTGFLT4:7:2181:42016:16077,LH00995:48:23YTGFLT4:7:2343:9996:3130,LH00995:48:23YTGFLT4:8:1124:33295:2513,LH00995:48:23YTGFLT4:8:1128:41668:11075,LH00995:48:23YTGFLT4:8:1142:37187:25564,LH00995:48:23YTGFLT4:8:1305:49961:12658,LH00995:48:23YTGFLT4:8:1334:11007:15194,LH00995:48:23YTGFLT4:8:1382:16266:4041,LH00995:48:23YTGFLT4:8:1480:50559:7306,LH00995:48:23YTGFLT4:8:1480:50567:7292,LH00995:48:23YTGFLT4:8:2426:1453:4335
RUNDC1 RUNDC1 +/+ +/+ chr17:42981074 chr17:42981069 CDS/splice-site CDS duplication/ITD 1 25 0 643 113 low in-frame . |RUN_domain(100%) . . ENSG00000198863.7 ENSG00000198863.7 ENST00000361677.5 ENST00000361677.5 downstream upstream duplicates(13) TAGGTTACGAAGGGCCCGGCGACCCCGCCAGCGATGAGGGCGATGGGCTGCCAGGGGACCGGCCAcGGTTGCGGGGCGAGGACCAG|GgCttG___AGTGAGCAGGAAAAGCAAGAGCGTCTGGAAACCCAAAGGGAGAAGCAGAAAGAACTGATACTGCAGCTCAAGACCCAGCTAGATGACCTGGAAACGTTTGCCTATCAAGAGGGCAGTTATGACTCGC GYEGPGDPASDEGDGLPGDRPrLRGEDQ|glSEQEKQERLETQREKQKELILQLKTQLDDLETFAYQEGSYDS LH00995:48:23YTGFLT4:1:1115:43885:22537,LH00995:48:23YTGFLT4:1:1366:45584:6030,LH00995:48:23YTGFLT4:1:2114:49702:11958,LH00995:48:23YTGFLT4:1:2115:13976:27455,LH00995:48:23YTGFLT4:1:2239:19712:22845,LH00995:48:23YTGFLT4:2:1121:31200:6227,LH00995:48:23YTGFLT4:2:1121:31208:6213,LH00995:48:23YTGFLT4:2:1125:23911:27763,LH00995:48:23YTGFLT4:2:2197:4090:6100,LH00995:48:23YTGFLT4:2:2266:39638:23924,LH00995:48:23YTGFLT4:2:2316:32494:4965,LH00995:48:23YTGFLT4:2:2381:29137:28408,LH00995:48:23YTGFLT4:3:1302:24243:24387,LH00995:48:23YTGFLT4:3:1367:44168:29473,LH00995:48:23YTGFLT4:3:2217:26734:23714,LH00995:48:23YTGFLT4:3:2227:28360:11089,LH00995:48:23YTGFLT4:4:1262:1947:8525,LH00995:48:23YTGFLT4:4:2252:13192:25900,LH00995:48:23YTGFLT4:4:2407:46603:12252,LH00995:48:23YTGFLT4:4:2490:30973:12252,LH00995:48:23YTGFLT4:5:1435:22908:11089,LH00995:48:23YTGFLT4:5:1448:13596:25451,LH00995:48:23YTGFLT4:5:2101:2869:21444,LH00995:48:23YTGFLT4:5:2101:2917:21276,LH00995:48:23YTGFLT4:5:2107:25723:2681,LH00995:48:23YTGFLT4:5:2363:9381:26614,LH00995:48:23YTGFLT4:6:1143:47113:14116,LH00995:48:23YTGFLT4:6:1451:52032:4839,LH00995:48:23YTGFLT4:6:2113:11687:19314,LH00995:48:23YTGFLT4:6:2422:47202:17380,LH00995:48:23YTGFLT4:6:2472:29970:27077,LH00995:48:23YTGFLT4:6:2484:8613:26264,LH00995:48:23YTGFLT4:7:1317:1154:13149,LH00995:48:23YTGFLT4:7:2267:41507:3340,LH00995:48:23YTGFLT4:7:2491:23053:10697,LH00995:48:23YTGFLT4:8:1421:30731:29123,LH00995:48:23YTGFLT4:8:2309:34549:29487,LH00995:48:23YTGFLT4:8:2407:1777:15825,LH00995:48:23YTGFLT4:6:1206:14470:10767
WDFY3 WDFY3 -/- -/- chr4:84721464 chr4:84721520 CDS CDS duplication/ITD 14 12 0 686 686 low in-frame . |Beige/BEACH_domain(100%),FYVE_zinc_finger(100%),PH_domain_associated_with_Beige/BEACH(100%) . . ENSG00000163625.16 ENSG00000163625.16 ENST00000295888.9 ENST00000295888.9 upstream downstream duplicates(27) GGTCAAGCCTCCTCTAAAACGCTCCCGATCTGCACCTGATGGAGGAGATGAGGAGAACCAGGAGCAGCTACAAGACCAGATTGCTGAGGGCAGCTCCATAGAAGA|TGAGGAGAACCAGGAGCAGCTACAAGACCAGATTGCTGAGGGCAGCTCCATAGAAGA VKPPLKRSRSAPDGGDEENQEQLQDQIAEGSSIEd|EENQEQLQDQIAEGSSIE LH00995:48:23YTGFLT4:1:1117:34096:12476,LH00995:48:23YTGFLT4:1:1117:34104:12462,LH00995:48:23YTGFLT4:1:1306:19817:19973,LH00995:48:23YTGFLT4:1:1306:19817:19973,LH00995:48:23YTGFLT4:3:2389:4649:14774,LH00995:48:23YTGFLT4:4:1374:4074:10697,LH00995:48:23YTGFLT4:4:1374:4090:10697,LH00995:48:23YTGFLT4:4:2431:46935:24513,LH00995:48:23YTGFLT4:5:2114:3799:27988,LH00995:48:23YTGFLT4:6:2192:11032:7306,LH00995:48:23YTGFLT4:6:2192:11040:7320,LH00995:48:23YTGFLT4:6:2390:37308:26867,LH00995:48:23YTGFLT4:6:2469:7990:25241,LH00995:48:23YTGFLT4:7:1265:31038:24695,LH00995:48:23YTGFLT4:7:2342:12164:27539,LH00995:48:23YTGFLT4:8:2404:17382:17829,LH00995:48:23YTGFLT4:8:2404:17382:17829,LH00995:48:23YTGFLT4:8:2451:23992:22383,LH00995:48:23YTGFLT4:5:1368:41046:16245,LH00995:48:23YTGFLT4:4:1206:6137:22285,LH00995:48:23YTGFLT4:4:1206:6145:22299,LH00995:48:23YTGFLT4:5:2192:13936:6843,LH00995:48:23YTGFLT4:2:2213:37421:15433,LH00995:48:23YTGFLT4:2:2292:16387:2597,LH00995:48:23YTGFLT4:3:2353:22422:5316,LH00995:48:23YTGFLT4:5:1222:19550:27441,LH00995:48:23YTGFLT4:5:1351:20950:29389,LH00995:48:23YTGFLT4:5:2470:30213:24527,LH00995:48:23YTGFLT4:7:2183:10223:5820,LH00995:48:23YTGFLT4:1:1117:34096:12476,LH00995:48:23YTGFLT4:1:1117:34104:12462,LH00995:48:23YTGFLT4:3:2389:4649:14774,LH00995:48:23YTGFLT4:4:1374:4074:10697,LH00995:48:23YTGFLT4:4:1374:4090:10697,LH00995:48:23YTGFLT4:4:2431:46935:24513,LH00995:48:23YTGFLT4:5:2114:3799:27988,LH00995:48:23YTGFLT4:6:2192:11032:7306,LH00995:48:23YTGFLT4:6:2192:11040:7320,LH00995:48:23YTGFLT4:6:2390:37308:26867,LH00995:48:23YTGFLT4:6:2469:7990:25241,LH00995:48:23YTGFLT4:7:1265:31038:24695,LH00995:48:23YTGFLT4:7:2342:12164:27539,LH00995:48:23YTGFLT4:8:2451:23992:22383,LH00995:48:23YTGFLT4:4:1206:6137:22285,LH00995:48:23YTGFLT4:4:1206:6145:22299,LH00995:48:23YTGFLT4:5:2192:13936:6843,LH00995:48:23YTGFLT4:2:2213:37421:15433,LH00995:48:23YTGFLT4:2:2292:16387:2597,LH00995:48:23YTGFLT4:3:2353:22422:5316,LH00995:48:23YTGFLT4:5:1222:19550:27441,LH00995:48:23YTGFLT4:5:1351:20950:29389,LH00995:48:23YTGFLT4:5:2470:30213:24527,LH00995:48:23YTGFLT4:7:2183:10223:5820
AGAP3 HOXD11 +/+ +/+ chr7:151086814 chr2:176107588 CDS CDS translocation 20 0 0 638 39 low in-frame . |Homeodomain(100%),Protein_of_unknown_function_(DUF3528)(57%) . . ENSG00000133612.19 ENSG00000128713.14 ENST00000397238.7 ENST00000249504.7 downstream upstream duplicates(42),low_entropy(1),mismappers(8),mismatches(7) GGGCCCGCCTCGGGCCCCACGGCTCCGAAGCCATGAACTTCCAGGCGGGCGGGGGGCAGAGCCCGCAGCAGCAGCAGAGCCTGGCGGCTCCGGGGGGCGGCGGCG|GCGGCGGCGGCGGCAGCGCGGGGGGCGGC MNFQAGGGQSPQQQQSLAAPGGGG|gGGGGSAGG LH00995:48:23YTGFLT4:1:1119:17568:28632,LH00995:48:23YTGFLT4:1:1147:50317:6241,LH00995:48:23YTGFLT4:1:1188:7925:8286,LH00995:48:23YTGFLT4:1:1258:5644:27932,LH00995:48:23YTGFLT4:1:1319:50915:3578,LH00995:48:23YTGFLT4:1:1334:15287:5316,LH00995:48:23YTGFLT4:1:1395:9333:6297,LH00995:48:23YTGFLT4:1:2241:4552:13625,LH00995:48:23YTGFLT4:1:2288:51239:19244,LH00995:48:23YTGFLT4:1:2434:26346:9365,LH00995:48:23YTGFLT4:2:1128:37454:12546,LH00995:48:23YTGFLT4:2:1374:44451:11523,LH00995:48:23YTGFLT4:2:2147:16776:7726,LH00995:48:23YTGFLT4:2:2279:28757:26404,LH00995:48:23YTGFLT4:2:2301:44314:25802,LH00995:48:23YTGFLT4:2:2398:10473:24835,LH00995:48:23YTGFLT4:2:2420:28385:25311,LH00995:48:23YTGFLT4:3:1137:7480:8665,LH00995:48:23YTGFLT4:3:1220:39856:19230,LH00995:48:23YTGFLT4:3:1220:39872:19230,LH00995:48:23YTGFLT4:3:1273:43885:25844,LH00995:48:23YTGFLT4:3:1382:33886:8300,LH00995:48:23YTGFLT4:3:2231:43966:26685,LH00995:48:23YTGFLT4:3:2265:32058:27946,LH00995:48:23YTGFLT4:4:1283:31143:1196,LH00995:48:23YTGFLT4:4:1401:7690:17661,LH00995:48:23YTGFLT4:4:2273:26815:14326,LH00995:48:23YTGFLT4:4:2411:6865:23266,LH00995:48:23YTGFLT4:5:1122:38513:11271,LH00995:48:23YTGFLT4:5:1236:12642:19006,LH00995:48:23YTGFLT4:5:1241:31564:21934,LH00995:48:23YTGFLT4:5:1370:26370:3270,LH00995:48:23YTGFLT4:5:1376:42906:24148,LH00995:48:23YTGFLT4:5:2216:10587:25984,LH00995:48:23YTGFLT4:5:2225:2343:28240,LH00995:48:23YTGFLT4:5:2311:42154:2135,LH00995:48:23YTGFLT4:5:2375:39500:11075,LH00995:48:23YTGFLT4:5:2386:19979:23616,LH00995:48:23YTGFLT4:6:1120:29202:4251,LH00995:48:23YTGFLT4:6:1177:27737:1939,LH00995:48:23YTGFLT4:6:1219:7051:4083,LH00995:48:23YTGFLT4:6:1245:1502:15236,LH00995:48:23YTGFLT4:6:1278:26459:11103,LH00995:48:23YTGFLT4:6:1343:46547:13611,LH00995:48:23YTGFLT4:6:1372:21047:7053,LH00995:48:23YTGFLT4:6:1454:38497:10626,LH00995:48:23YTGFLT4:6:1454:38513:10626,LH00995:48:23YTGFLT4:6:2168:6995:23069,LH00995:48:23YTGFLT4:6:2172:49896:13975,LH00995:48:23YTGFLT4:6:2194:36264:6199,LH00995:48:23YTGFLT4:6:2279:32818:2387,LH00995:48:23YTGFLT4:6:2316:38295:2878,LH00995:48:23YTGFLT4:6:2319:39306:16063,LH00995:48:23YTGFLT4:7:1406:39929:11621,LH00995:48:23YTGFLT4:7:1419:24210:8665,LH00995:48:23YTGFLT4:7:2138:42154:20043,LH00995:48:23YTGFLT4:7:2156:23207:11019,LH00995:48:23YTGFLT4:7:2162:6574:25479,LH00995:48:23YTGFLT4:7:2230:2181:20393,LH00995:48:23YTGFLT4:7:2297:24234:10725,LH00995:48:23YTGFLT4:7:2302:6283:9365,LH00995:48:23YTGFLT4:7:2306:34129:15279,LH00995:48:23YTGFLT4:7:2402:13944:9912,LH00995:48:23YTGFLT4:7:2451:34517:29319,LH00995:48:23YTGFLT4:7:2463:13281:10416,LH00995:48:23YTGFLT4:8:1236:46789:1617,LH00995:48:23YTGFLT4:8:1331:38303:1490,LH00995:48:23YTGFLT4:8:1333:34298:21038,LH00995:48:23YTGFLT4:8:1496:42348:25732,LH00995:48:23YTGFLT4:8:2135:23118:11817,LH00995:48:23YTGFLT4:8:2194:9211:6787,LH00995:48:23YTGFLT4:8:2367:28797:5596,LH00995:48:23YTGFLT4:8:2372:7270:16624,LH00995:48:23YTGFLT4:8:2418:3265:22607,LH00995:48:23YTGFLT4:8:2434:37486:21766,LH00995:48:23YTGFLT4:8:2475:40471:8497,LH00995:48:23YTGFLT4:8:2492:35237:13695,LH00995:48:23YTGFLT4:8:2493:19308:6367
WBP2 FP236383.3 -/- +/+ chr17:75846715 chr21:8399954 3'UTR intron translocation 19 0 0 9528 55540 low stop-codon . GRAM_domain(100%)| . . ENSG00000132471.12 ENSG00000280441.3 ENST00000591399.5 . upstream upstream duplicates(16) CCTATTACAACCCAGGCAATCCTCACAACGTCTACATGCCCACG___AGCCAGCCGCCGCCACCTCCCTACTACCCACCGGAAGATAAGAAGACCCAGTAGGCCCTCCTGCCTCCCTGCC|CCGCGCCCTCTCTCTCTCTCTCTCCCCC . LH00995:48:23YTGFLT4:1:1301:25100:3312,LH00995:48:23YTGFLT4:1:2472:36369:10865,LH00995:48:23YTGFLT4:2:1163:29881:7306,LH00995:48:23YTGFLT4:2:1206:19259:28786,LH00995:48:23YTGFLT4:2:1247:36903:12742,LH00995:48:23YTGFLT4:2:1385:30472:3732,LH00995:48:23YTGFLT4:2:1457:47736:15867,LH00995:48:23YTGFLT4:2:2226:45406:10795,LH00995:48:23YTGFLT4:3:1294:41806:6465,LH00995:48:23YTGFLT4:3:1374:45446:16918,LH00995:48:23YTGFLT4:3:1475:34549:5946,LH00995:48:23YTGFLT4:4:2186:49233:24793,LH00995:48:23YTGFLT4:4:2312:41215:13093,LH00995:48:23YTGFLT4:4:2316:33271:26348,LH00995:48:23YTGFLT4:5:1215:40398:14003,LH00995:48:23YTGFLT4:5:1366:1202:11467,LH00995:48:23YTGFLT4:5:1454:16630:18684,LH00995:48:23YTGFLT4:5:1487:11752:6647,LH00995:48:23YTGFLT4:5:2215:44888:12784,LH00995:48:23YTGFLT4:5:2220:1849:9562,LH00995:48:23YTGFLT4:5:2243:5094:3438,LH00995:48:23YTGFLT4:5:2289:37041:27946,LH00995:48:23YTGFLT4:6:1372:23466:21500,LH00995:48:23YTGFLT4:6:1372:23474:21486,LH00995:48:23YTGFLT4:6:1378:49459:21290,LH00995:48:23YTGFLT4:6:2198:42850:7235,LH00995:48:23YTGFLT4:6:2424:14704:26026,LH00995:48:23YTGFLT4:7:1206:13410:4643,LH00995:48:23YTGFLT4:7:1206:13418:4657,LH00995:48:23YTGFLT4:7:1274:1396:5918,LH00995:48:23YTGFLT4:7:1326:43392:16666,LH00995:48:23YTGFLT4:7:2232:23531:8749,LH00995:48:23YTGFLT4:8:2315:22439:28352
DTX2 DTX2 +/+ +/+ chr7:76492253 chr7:76463545 CDS/splice-site 5'UTR/splice-site duplication/non-canonical_splicing 12 3 0 4512 28 low out-of-frame . WWE_domain(100%)|Deltex_C-terminal_domain(100%),WWE_domain(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%) . . ENSG00000091073.19 ENSG00000091073.19 ENST00000324432.9 ENST00000324432.9 downstream upstream duplicates(8),mismatches(2) CAGCACCTGCCCCCAGGATCCTCCACCTCCGGTGCAGTCAG___TGCCTCCCTCCCCAGCGGTCCCTCAAGCAGCCCAGGGAGtGTCCCTGCCACTGTGCCCATGCAGATGCCAAAGCCCAGCAGAGTCCAGCAGGCGCTCGCAG|GTGCCTTGGAATTTGTGTCGCTGAGTCAGCAAGCCTTTCAGATTTGCCCGGTTTTTGTTGTTTGTGGTTTGTATCAAGATGGGAACTCAAACAAGTCATTCC QHLPPGSSTSGAVSASLPSGPSSSPGSVPATVPMQMPKPSRVQQALA|galefvslsqqafqicpvfvvcglyqdgnsnksf LH00995:48:23YTGFLT4:1:1158:10797:3060,LH00995:48:23YTGFLT4:3:2239:39541:23700,LH00995:48:23YTGFLT4:8:1212:46975:5946,LH00995:48:23YTGFLT4:1:2143:3637:20869,LH00995:48:23YTGFLT4:1:2343:12083:17535,LH00995:48:23YTGFLT4:3:1177:18191:26600,LH00995:48:23YTGFLT4:3:2144:15489:11355,LH00995:48:23YTGFLT4:3:2224:8435:8132,LH00995:48:23YTGFLT4:3:2265:8685:5764,LH00995:48:23YTGFLT4:3:2274:7763:4755,LH00995:48:23YTGFLT4:4:1322:24057:28408,LH00995:48:23YTGFLT4:4:2169:35132:20491,LH00995:48:23YTGFLT4:4:2215:4600:24751,LH00995:48:23YTGFLT4:4:2306:19947:20785,LH00995:48:23YTGFLT4:4:2450:50762:8076,LH00995:48:23YTGFLT4:5:1354:1065:9379,LH00995:48:23YTGFLT4:5:2351:36232:4965,LH00995:48:23YTGFLT4:6:1121:32956:9688,LH00995:48:23YTGFLT4:7:1123:4171:28997,LH00995:48:23YTGFLT4:7:1223:44314:8202,LH00995:48:23YTGFLT4:7:1380:17746:6521,LH00995:48:23YTGFLT4:7:2322:12480:18053,LH00995:48:23YTGFLT4:7:2424:21905:5456,LH00995:48:23YTGFLT4:8:1484:44904:10879,LH00995:48:23YTGFLT4:8:1484:44913:10865
CDKN2B AC090809.1 -/- -/+ chr9:22005652 chr8:36407918 3'UTR intron translocation/5'-5' 14 0 0 2635 2 low . . . . . ENSG00000147883.12 ENSG00000253363.7 ENST00000276925.7 . upstream upstream duplicates(35),mismatches(23),multimappers(1) ACTCACCATGAAGCGAAACACAGAGAAGCGGATTTCCAGGGATATTTAGGAGTGTGTGACATTCCAGGGGTCGTTTGCTTTTCAGGGTTTTCTGAGGGAAAGTGCATATGAAATCCTTGACTGGACCTGGTGG|TGCATGTGTTCTCATTGTTCAATTC . LH00995:48:23YTGFLT4:1:1177:45835:27623,LH00995:48:23YTGFLT4:1:1191:42566:2009,LH00995:48:23YTGFLT4:1:1205:37470:8959,LH00995:48:23YTGFLT4:1:1327:27592:29263,LH00995:48:23YTGFLT4:1:1444:17746:16077,LH00995:48:23YTGFLT4:1:2177:47687:27245,LH00995:48:23YTGFLT4:1:2229:45341:25451,LH00995:48:23YTGFLT4:1:2256:6776:12770,LH00995:48:23YTGFLT4:1:2256:6792:12770,LH00995:48:23YTGFLT4:1:2273:31928:7404,LH00995:48:23YTGFLT4:1:2358:4139:22747,LH00995:48:23YTGFLT4:1:2403:24647:2331,LH00995:48:23YTGFLT4:2:1185:31297:22060,LH00995:48:23YTGFLT4:2:1242:38384:17969,LH00995:48:23YTGFLT4:2:1290:38683:23195,LH00995:48:23YTGFLT4:2:1343:30893:2107,LH00995:48:23YTGFLT4:2:1364:35205:13387,LH00995:48:23YTGFLT4:2:1467:4471:14382,LH00995:48:23YTGFLT4:2:1469:10271:18403,LH00995:48:23YTGFLT4:2:2137:32729:2822,LH00995:48:23YTGFLT4:2:2205:11646:3718,LH00995:48:23YTGFLT4:2:2247:49718:24288,LH00995:48:23YTGFLT4:2:2340:27891:4755,LH00995:48:23YTGFLT4:2:2362:21435:28100,LH00995:48:23YTGFLT4:3:1190:45026:20337,LH00995:48:23YTGFLT4:3:1194:25610:2822,LH00995:48:23YTGFLT4:3:1330:29865:15461,LH00995:48:23YTGFLT4:3:1378:30876:25311,LH00995:48:23YTGFLT4:3:2140:28789:11411,LH00995:48:23YTGFLT4:3:2455:28813:3859,LH00995:48:23YTGFLT4:4:1132:24299:21822,LH00995:48:23YTGFLT4:4:1178:24874:3929,LH00995:48:23YTGFLT4:4:1246:46417:22495,LH00995:48:23YTGFLT4:4:1246:46676:22355,LH00995:48:23YTGFLT4:4:1252:43764:1617,LH00995:48:23YTGFLT4:4:1303:19025:14003,LH00995:48:23YTGFLT4:4:1390:26168:28590,LH00995:48:23YTGFLT4:4:1481:18191:23097,LH00995:48:23YTGFLT4:4:1489:30205:12714,LH00995:48:23YTGFLT4:4:2197:12375:12574,LH00995:48:23YTGFLT4:4:2271:7521:27960,LH00995:48:23YTGFLT4:4:2280:22697:11145,LH00995:48:23YTGFLT4:4:2285:34460:16077,LH00995:48:23YTGFLT4:5:1156:20545:17394,LH00995:48:23YTGFLT4:5:1189:33417:19398,LH00995:48:23YTGFLT4:5:1452:37041:25199,LH00995:48:23YTGFLT4:5:1485:21516:8595,LH00995:48:23YTGFLT4:5:2226:49605:20141,LH00995:48:23YTGFLT4:5:2343:14276:29487,LH00995:48:23YTGFLT4:5:2396:6404:7390,LH00995:48:23YTGFLT4:5:2412:6930:15279,LH00995:48:23YTGFLT4:6:1186:49961:1757,LH00995:48:23YTGFLT4:6:1186:49969:1771,LH00995:48:23YTGFLT4:6:1214:26184:18305,LH00995:48:23YTGFLT4:6:1264:13855:14466,LH00995:48:23YTGFLT4:6:1387:40876:27693,LH00995:48:23YTGFLT4:6:1439:33384:11944,LH00995:48:23YTGFLT4:6:1445:6881:17913,LH00995:48:23YTGFLT4:6:2114:2343:22159,LH00995:48:23YTGFLT4:6:2194:16719:28983,LH00995:48:23YTGFLT4:6:2398:44686:5932,LH00995:48:23YTGFLT4:7:1352:18207:10234,LH00995:48:23YTGFLT4:7:2250:11655:22593,LH00995:48:23YTGFLT4:7:2365:45034:10066,LH00995:48:23YTGFLT4:7:2463:33069:28548,LH00995:48:23YTGFLT4:8:1163:41337:20421,LH00995:48:23YTGFLT4:8:1376:1631:23616,LH00995:48:23YTGFLT4:8:1381:44662:1995,LH00995:48:23YTGFLT4:8:1402:43610:29011,LH00995:48:23YTGFLT4:8:2232:3751:5428,LH00995:48:23YTGFLT4:8:2232:3759:5442,LH00995:48:23YTGFLT4:8:2260:7229:19524,LH00995:48:23YTGFLT4:8:2260:7237:19538
CCDC169 SOHLH2 -/- -/- chr13:36248606 chr13:36202093 CDS/splice-site CDS/splice-site deletion/read-through 4 5 0 35 19 low out-of-frame . Domain_of_unknown_function_(DUF4600)(100%)|Helix-loop-helix_DNA-binding_domain(100%) . . ENSG00000242715.8 ENSG00000120669.16 ENST00000379864.6 ENST00000379881.8 upstream downstream duplicates(7) GCCGTACATACCTAGCTGAAATGTCTCAG___GGTTCTGGTTTACATCAAGTTTCTAAAAGGCAACAGGTGGATCAACTGCCTAGGATGCAAGAGAATCTAGTGAAAAC|GCAAAAATAGACATCTTATTAGTTGGAGATGTCACTGTGGGCTACCTGGCTGATACTGTACAGAAACTATTTGCAAACATAGCAGAAGTCACCATCACCATCAGTGACACGAAGGAG RTYLAEMSQGSGLHQVSKRQQVDQLPRMQENLVKt|qk* LH00995:48:23YTGFLT4:1:2350:36798:9730,LH00995:48:23YTGFLT4:2:1168:45107:10360,LH00995:48:23YTGFLT4:4:2233:51215:10430,LH00995:48:23YTGFLT4:4:2401:51198:7796,LH00995:48:23YTGFLT4:5:1290:1663:4167,LH00995:48:23YTGFLT4:5:2307:33870:6731,LH00995:48:23YTGFLT4:6:1479:17649:9744,LH00995:48:23YTGFLT4:6:2325:8168:25241,LH00995:48:23YTGFLT4:8:2490:44904:1490,LH00995:48:23YTGFLT4:3:1474:36709:10332,LH00995:48:23YTGFLT4:3:1493:5263:23630,LH00995:48:23YTGFLT4:4:2111:27106:5274,LH00995:48:23YTGFLT4:5:1275:40164:15251,LH00995:48:23YTGFLT4:6:1388:20456:26657,LH00995:48:23YTGFLT4:7:1238:22997:19903,LH00995:48:23YTGFLT4:8:2282:37898:11019
PCDHGA4 PCDHGA8 +/+ +/+ chr5:141357621 chr5:141494807 CDS CDS/splice-site deletion/read-through 9 0 0 93 18228 low 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(24),low_entropy(1),mismappers(1) CGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS LH00995:48:23YTGFLT4:1:1418:6161:13919,LH00995:48:23YTGFLT4:1:2152:40690:18039,LH00995:48:23YTGFLT4:2:1150:7755:3312,LH00995:48:23YTGFLT4:2:2365:11841:27427,LH00995:48:23YTGFLT4:3:1378:10198:19875,LH00995:48:23YTGFLT4:3:1486:9753:2121,LH00995:48:23YTGFLT4:3:1489:29558:3999,LH00995:48:23YTGFLT4:3:2438:9252:9912,LH00995:48:23YTGFLT4:4:2159:45956:4237,LH00995:48:23YTGFLT4:4:2160:27333:7404,LH00995:48:23YTGFLT4:4:2392:21395:16203,LH00995:48:23YTGFLT4:4:2481:34307:18613,LH00995:48:23YTGFLT4:5:1255:2537:6409,LH00995:48:23YTGFLT4:5:1414:11323:4055,LH00995:48:23YTGFLT4:5:2242:7949:17885,LH00995:48:23YTGFLT4:5:2487:31920:20393,LH00995:48:23YTGFLT4:6:1102:4074:20113,LH00995:48:23YTGFLT4:6:1260:6275:11902,LH00995:48:23YTGFLT4:6:1280:46118:25339,LH00995:48:23YTGFLT4:6:1398:17415:14242,LH00995:48:23YTGFLT4:6:1467:39872:21052,LH00995:48:23YTGFLT4:6:2101:34881:20729,LH00995:48:23YTGFLT4:6:2147:24914:14059,LH00995:48:23YTGFLT4:6:2161:3168:22551,LH00995:48:23YTGFLT4:6:2345:37664:16105,LH00995:48:23YTGFLT4:6:2438:48011:2724,LH00995:48:23YTGFLT4:7:1113:1930:18361,LH00995:48:23YTGFLT4:7:1118:25844:24527,LH00995:48:23YTGFLT4:7:2150:50252:19104,LH00995:48:23YTGFLT4:7:2198:6695:4699,LH00995:48:23YTGFLT4:7:2201:1574:3200,LH00995:48:23YTGFLT4:7:2455:7925:24485,LH00995:48:23YTGFLT4:8:1122:32786:14073,LH00995:48:23YTGFLT4:8:1465:21759:22859,LH00995:48:23YTGFLT4:8:1465:21848:24611
PCDHGA4 PCDHGB6 +/+ +/+ chr5:141357621 chr5:141494807 CDS CDS/splice-site deletion/read-through 9 0 0 93 18228 low 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(24),low_entropy(1),mismappers(1) CGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS LH00995:48:23YTGFLT4:1:1418:6161:13919,LH00995:48:23YTGFLT4:1:2152:40690:18039,LH00995:48:23YTGFLT4:2:1150:7755:3312,LH00995:48:23YTGFLT4:2:2365:11841:27427,LH00995:48:23YTGFLT4:3:1378:10198:19875,LH00995:48:23YTGFLT4:3:1486:9753:2121,LH00995:48:23YTGFLT4:3:1489:29558:3999,LH00995:48:23YTGFLT4:3:2438:9252:9912,LH00995:48:23YTGFLT4:4:2159:45956:4237,LH00995:48:23YTGFLT4:4:2160:27333:7404,LH00995:48:23YTGFLT4:4:2392:21395:16203,LH00995:48:23YTGFLT4:4:2481:34307:18613,LH00995:48:23YTGFLT4:5:1255:2537:6409,LH00995:48:23YTGFLT4:5:1414:11323:4055,LH00995:48:23YTGFLT4:5:2242:7949:17885,LH00995:48:23YTGFLT4:5:2487:31920:20393,LH00995:48:23YTGFLT4:6:1102:4074:20113,LH00995:48:23YTGFLT4:6:1260:6275:11902,LH00995:48:23YTGFLT4:6:1280:46118:25339,LH00995:48:23YTGFLT4:6:1398:17415:14242,LH00995:48:23YTGFLT4:6:1467:39872:21052,LH00995:48:23YTGFLT4:6:2101:34881:20729,LH00995:48:23YTGFLT4:6:2147:24914:14059,LH00995:48:23YTGFLT4:6:2161:3168:22551,LH00995:48:23YTGFLT4:6:2345:37664:16105,LH00995:48:23YTGFLT4:6:2438:48011:2724,LH00995:48:23YTGFLT4:7:1113:1930:18361,LH00995:48:23YTGFLT4:7:1118:25844:24527,LH00995:48:23YTGFLT4:7:2150:50252:19104,LH00995:48:23YTGFLT4:7:2198:6695:4699,LH00995:48:23YTGFLT4:7:2201:1574:3200,LH00995:48:23YTGFLT4:7:2455:7925:24485,LH00995:48:23YTGFLT4:8:1122:32786:14073,LH00995:48:23YTGFLT4:8:1465:21759:22859,LH00995:48:23YTGFLT4:8:1465:21848:24611
PCDHGA4 PCDHGA11 +/+ +/+ chr5:141357621 chr5:141494807 CDS CDS/splice-site deletion/read-through 9 0 0 93 18228 low 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(24),low_entropy(1),mismappers(1) CGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS LH00995:48:23YTGFLT4:1:1418:6161:13919,LH00995:48:23YTGFLT4:1:2152:40690:18039,LH00995:48:23YTGFLT4:2:1150:7755:3312,LH00995:48:23YTGFLT4:2:2365:11841:27427,LH00995:48:23YTGFLT4:3:1378:10198:19875,LH00995:48:23YTGFLT4:3:1486:9753:2121,LH00995:48:23YTGFLT4:3:1489:29558:3999,LH00995:48:23YTGFLT4:3:2438:9252:9912,LH00995:48:23YTGFLT4:4:2159:45956:4237,LH00995:48:23YTGFLT4:4:2160:27333:7404,LH00995:48:23YTGFLT4:4:2392:21395:16203,LH00995:48:23YTGFLT4:4:2481:34307:18613,LH00995:48:23YTGFLT4:5:1255:2537:6409,LH00995:48:23YTGFLT4:5:1414:11323:4055,LH00995:48:23YTGFLT4:5:2242:7949:17885,LH00995:48:23YTGFLT4:5:2487:31920:20393,LH00995:48:23YTGFLT4:6:1102:4074:20113,LH00995:48:23YTGFLT4:6:1260:6275:11902,LH00995:48:23YTGFLT4:6:1280:46118:25339,LH00995:48:23YTGFLT4:6:1398:17415:14242,LH00995:48:23YTGFLT4:6:1467:39872:21052,LH00995:48:23YTGFLT4:6:2101:34881:20729,LH00995:48:23YTGFLT4:6:2147:24914:14059,LH00995:48:23YTGFLT4:6:2161:3168:22551,LH00995:48:23YTGFLT4:6:2345:37664:16105,LH00995:48:23YTGFLT4:6:2438:48011:2724,LH00995:48:23YTGFLT4:7:1113:1930:18361,LH00995:48:23YTGFLT4:7:1118:25844:24527,LH00995:48:23YTGFLT4:7:2150:50252:19104,LH00995:48:23YTGFLT4:7:2198:6695:4699,LH00995:48:23YTGFLT4:7:2201:1574:3200,LH00995:48:23YTGFLT4:7:2455:7925:24485,LH00995:48:23YTGFLT4:8:1122:32786:14073,LH00995:48:23YTGFLT4:8:1465:21759:22859,LH00995:48:23YTGFLT4:8:1465:21848:24611
PCDHGA4 PCDHGC4 +/+ +/+ chr5:141357621 chr5:141494807 CDS CDS/splice-site deletion/read-through 9 0 0 93 18228 low 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(24),low_entropy(1),mismappers(1) CGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS LH00995:48:23YTGFLT4:1:1418:6161:13919,LH00995:48:23YTGFLT4:1:2152:40690:18039,LH00995:48:23YTGFLT4:2:1150:7755:3312,LH00995:48:23YTGFLT4:2:2365:11841:27427,LH00995:48:23YTGFLT4:3:1378:10198:19875,LH00995:48:23YTGFLT4:3:1486:9753:2121,LH00995:48:23YTGFLT4:3:1489:29558:3999,LH00995:48:23YTGFLT4:3:2438:9252:9912,LH00995:48:23YTGFLT4:4:2159:45956:4237,LH00995:48:23YTGFLT4:4:2160:27333:7404,LH00995:48:23YTGFLT4:4:2392:21395:16203,LH00995:48:23YTGFLT4:4:2481:34307:18613,LH00995:48:23YTGFLT4:5:1255:2537:6409,LH00995:48:23YTGFLT4:5:1414:11323:4055,LH00995:48:23YTGFLT4:5:2242:7949:17885,LH00995:48:23YTGFLT4:5:2487:31920:20393,LH00995:48:23YTGFLT4:6:1102:4074:20113,LH00995:48:23YTGFLT4:6:1260:6275:11902,LH00995:48:23YTGFLT4:6:1280:46118:25339,LH00995:48:23YTGFLT4:6:1398:17415:14242,LH00995:48:23YTGFLT4:6:1467:39872:21052,LH00995:48:23YTGFLT4:6:2101:34881:20729,LH00995:48:23YTGFLT4:6:2147:24914:14059,LH00995:48:23YTGFLT4:6:2161:3168:22551,LH00995:48:23YTGFLT4:6:2345:37664:16105,LH00995:48:23YTGFLT4:6:2438:48011:2724,LH00995:48:23YTGFLT4:7:1113:1930:18361,LH00995:48:23YTGFLT4:7:1118:25844:24527,LH00995:48:23YTGFLT4:7:2150:50252:19104,LH00995:48:23YTGFLT4:7:2198:6695:4699,LH00995:48:23YTGFLT4:7:2201:1574:3200,LH00995:48:23YTGFLT4:7:2455:7925:24485,LH00995:48:23YTGFLT4:8:1122:32786:14073,LH00995:48:23YTGFLT4:8:1465:21759:22859,LH00995:48:23YTGFLT4:8:1465:21848:24611
PCDHGA4 PCDHGA10 +/+ +/+ chr5:141357621 chr5:141494807 CDS CDS/splice-site deletion/read-through 9 0 0 93 18228 low 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(24),low_entropy(1),mismappers(1) CGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS LH00995:48:23YTGFLT4:1:1418:6161:13919,LH00995:48:23YTGFLT4:1:2152:40690:18039,LH00995:48:23YTGFLT4:2:1150:7755:3312,LH00995:48:23YTGFLT4:2:2365:11841:27427,LH00995:48:23YTGFLT4:3:1378:10198:19875,LH00995:48:23YTGFLT4:3:1486:9753:2121,LH00995:48:23YTGFLT4:3:1489:29558:3999,LH00995:48:23YTGFLT4:3:2438:9252:9912,LH00995:48:23YTGFLT4:4:2159:45956:4237,LH00995:48:23YTGFLT4:4:2160:27333:7404,LH00995:48:23YTGFLT4:4:2392:21395:16203,LH00995:48:23YTGFLT4:4:2481:34307:18613,LH00995:48:23YTGFLT4:5:1255:2537:6409,LH00995:48:23YTGFLT4:5:1414:11323:4055,LH00995:48:23YTGFLT4:5:2242:7949:17885,LH00995:48:23YTGFLT4:5:2487:31920:20393,LH00995:48:23YTGFLT4:6:1102:4074:20113,LH00995:48:23YTGFLT4:6:1260:6275:11902,LH00995:48:23YTGFLT4:6:1280:46118:25339,LH00995:48:23YTGFLT4:6:1398:17415:14242,LH00995:48:23YTGFLT4:6:1467:39872:21052,LH00995:48:23YTGFLT4:6:2101:34881:20729,LH00995:48:23YTGFLT4:6:2147:24914:14059,LH00995:48:23YTGFLT4:6:2161:3168:22551,LH00995:48:23YTGFLT4:6:2345:37664:16105,LH00995:48:23YTGFLT4:6:2438:48011:2724,LH00995:48:23YTGFLT4:7:1113:1930:18361,LH00995:48:23YTGFLT4:7:1118:25844:24527,LH00995:48:23YTGFLT4:7:2150:50252:19104,LH00995:48:23YTGFLT4:7:2198:6695:4699,LH00995:48:23YTGFLT4:7:2201:1574:3200,LH00995:48:23YTGFLT4:7:2455:7925:24485,LH00995:48:23YTGFLT4:8:1122:32786:14073,LH00995:48:23YTGFLT4:8:1465:21759:22859,LH00995:48:23YTGFLT4:8:1465:21848:24611
PCDHGA4 PCDHGA9 +/+ +/+ chr5:141357621 chr5:141494807 CDS CDS/splice-site deletion/read-through 9 0 0 93 18228 low 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(24),low_entropy(1),mismappers(1) CGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS LH00995:48:23YTGFLT4:1:1418:6161:13919,LH00995:48:23YTGFLT4:1:2152:40690:18039,LH00995:48:23YTGFLT4:2:1150:7755:3312,LH00995:48:23YTGFLT4:2:2365:11841:27427,LH00995:48:23YTGFLT4:3:1378:10198:19875,LH00995:48:23YTGFLT4:3:1486:9753:2121,LH00995:48:23YTGFLT4:3:1489:29558:3999,LH00995:48:23YTGFLT4:3:2438:9252:9912,LH00995:48:23YTGFLT4:4:2159:45956:4237,LH00995:48:23YTGFLT4:4:2160:27333:7404,LH00995:48:23YTGFLT4:4:2392:21395:16203,LH00995:48:23YTGFLT4:4:2481:34307:18613,LH00995:48:23YTGFLT4:5:1255:2537:6409,LH00995:48:23YTGFLT4:5:1414:11323:4055,LH00995:48:23YTGFLT4:5:2242:7949:17885,LH00995:48:23YTGFLT4:5:2487:31920:20393,LH00995:48:23YTGFLT4:6:1102:4074:20113,LH00995:48:23YTGFLT4:6:1260:6275:11902,LH00995:48:23YTGFLT4:6:1280:46118:25339,LH00995:48:23YTGFLT4:6:1398:17415:14242,LH00995:48:23YTGFLT4:6:1467:39872:21052,LH00995:48:23YTGFLT4:6:2101:34881:20729,LH00995:48:23YTGFLT4:6:2147:24914:14059,LH00995:48:23YTGFLT4:6:2161:3168:22551,LH00995:48:23YTGFLT4:6:2345:37664:16105,LH00995:48:23YTGFLT4:6:2438:48011:2724,LH00995:48:23YTGFLT4:7:1113:1930:18361,LH00995:48:23YTGFLT4:7:1118:25844:24527,LH00995:48:23YTGFLT4:7:2150:50252:19104,LH00995:48:23YTGFLT4:7:2198:6695:4699,LH00995:48:23YTGFLT4:7:2201:1574:3200,LH00995:48:23YTGFLT4:7:2455:7925:24485,LH00995:48:23YTGFLT4:8:1122:32786:14073,LH00995:48:23YTGFLT4:8:1465:21759:22859,LH00995:48:23YTGFLT4:8:1465:21848:24611
PCDHGA4 PCDHGC5 +/+ +/+ chr5:141357621 chr5:141494807 CDS CDS/splice-site deletion/read-through 9 0 0 93 18228 low 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(24),low_entropy(1),mismappers(1) CGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS LH00995:48:23YTGFLT4:1:1418:6161:13919,LH00995:48:23YTGFLT4:1:2152:40690:18039,LH00995:48:23YTGFLT4:2:1150:7755:3312,LH00995:48:23YTGFLT4:2:2365:11841:27427,LH00995:48:23YTGFLT4:3:1378:10198:19875,LH00995:48:23YTGFLT4:3:1486:9753:2121,LH00995:48:23YTGFLT4:3:1489:29558:3999,LH00995:48:23YTGFLT4:3:2438:9252:9912,LH00995:48:23YTGFLT4:4:2159:45956:4237,LH00995:48:23YTGFLT4:4:2160:27333:7404,LH00995:48:23YTGFLT4:4:2392:21395:16203,LH00995:48:23YTGFLT4:4:2481:34307:18613,LH00995:48:23YTGFLT4:5:1255:2537:6409,LH00995:48:23YTGFLT4:5:1414:11323:4055,LH00995:48:23YTGFLT4:5:2242:7949:17885,LH00995:48:23YTGFLT4:5:2487:31920:20393,LH00995:48:23YTGFLT4:6:1102:4074:20113,LH00995:48:23YTGFLT4:6:1260:6275:11902,LH00995:48:23YTGFLT4:6:1280:46118:25339,LH00995:48:23YTGFLT4:6:1398:17415:14242,LH00995:48:23YTGFLT4:6:1467:39872:21052,LH00995:48:23YTGFLT4:6:2101:34881:20729,LH00995:48:23YTGFLT4:6:2147:24914:14059,LH00995:48:23YTGFLT4:6:2161:3168:22551,LH00995:48:23YTGFLT4:6:2345:37664:16105,LH00995:48:23YTGFLT4:6:2438:48011:2724,LH00995:48:23YTGFLT4:7:1113:1930:18361,LH00995:48:23YTGFLT4:7:1118:25844:24527,LH00995:48:23YTGFLT4:7:2150:50252:19104,LH00995:48:23YTGFLT4:7:2198:6695:4699,LH00995:48:23YTGFLT4:7:2201:1574:3200,LH00995:48:23YTGFLT4:7:2455:7925:24485,LH00995:48:23YTGFLT4:8:1122:32786:14073,LH00995:48:23YTGFLT4:8:1465:21759:22859,LH00995:48:23YTGFLT4:8:1465:21848:24611
PCDHGA4 PCDHGB7 +/+ +/+ chr5:141357621 chr5:141494807 CDS CDS/splice-site deletion/read-through 9 0 0 93 18228 low 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(24),low_entropy(1),mismappers(1) CGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS LH00995:48:23YTGFLT4:1:1418:6161:13919,LH00995:48:23YTGFLT4:1:2152:40690:18039,LH00995:48:23YTGFLT4:2:1150:7755:3312,LH00995:48:23YTGFLT4:2:2365:11841:27427,LH00995:48:23YTGFLT4:3:1378:10198:19875,LH00995:48:23YTGFLT4:3:1486:9753:2121,LH00995:48:23YTGFLT4:3:1489:29558:3999,LH00995:48:23YTGFLT4:3:2438:9252:9912,LH00995:48:23YTGFLT4:4:2159:45956:4237,LH00995:48:23YTGFLT4:4:2160:27333:7404,LH00995:48:23YTGFLT4:4:2392:21395:16203,LH00995:48:23YTGFLT4:4:2481:34307:18613,LH00995:48:23YTGFLT4:5:1255:2537:6409,LH00995:48:23YTGFLT4:5:1414:11323:4055,LH00995:48:23YTGFLT4:5:2242:7949:17885,LH00995:48:23YTGFLT4:5:2487:31920:20393,LH00995:48:23YTGFLT4:6:1102:4074:20113,LH00995:48:23YTGFLT4:6:1260:6275:11902,LH00995:48:23YTGFLT4:6:1280:46118:25339,LH00995:48:23YTGFLT4:6:1398:17415:14242,LH00995:48:23YTGFLT4:6:1467:39872:21052,LH00995:48:23YTGFLT4:6:2101:34881:20729,LH00995:48:23YTGFLT4:6:2147:24914:14059,LH00995:48:23YTGFLT4:6:2161:3168:22551,LH00995:48:23YTGFLT4:6:2345:37664:16105,LH00995:48:23YTGFLT4:6:2438:48011:2724,LH00995:48:23YTGFLT4:7:1113:1930:18361,LH00995:48:23YTGFLT4:7:1118:25844:24527,LH00995:48:23YTGFLT4:7:2150:50252:19104,LH00995:48:23YTGFLT4:7:2198:6695:4699,LH00995:48:23YTGFLT4:7:2201:1574:3200,LH00995:48:23YTGFLT4:7:2455:7925:24485,LH00995:48:23YTGFLT4:8:1122:32786:14073,LH00995:48:23YTGFLT4:8:1465:21759:22859,LH00995:48:23YTGFLT4:8:1465:21848:24611
PCDHGA4 PCDHGA12 +/+ +/+ chr5:141357621 chr5:141494807 CDS CDS/splice-site deletion/read-through 9 0 0 93 18228 low 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(24),low_entropy(1),mismappers(1) CGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS LH00995:48:23YTGFLT4:1:1418:6161:13919,LH00995:48:23YTGFLT4:1:2152:40690:18039,LH00995:48:23YTGFLT4:2:1150:7755:3312,LH00995:48:23YTGFLT4:2:2365:11841:27427,LH00995:48:23YTGFLT4:3:1378:10198:19875,LH00995:48:23YTGFLT4:3:1486:9753:2121,LH00995:48:23YTGFLT4:3:1489:29558:3999,LH00995:48:23YTGFLT4:3:2438:9252:9912,LH00995:48:23YTGFLT4:4:2159:45956:4237,LH00995:48:23YTGFLT4:4:2160:27333:7404,LH00995:48:23YTGFLT4:4:2392:21395:16203,LH00995:48:23YTGFLT4:4:2481:34307:18613,LH00995:48:23YTGFLT4:5:1255:2537:6409,LH00995:48:23YTGFLT4:5:1414:11323:4055,LH00995:48:23YTGFLT4:5:2242:7949:17885,LH00995:48:23YTGFLT4:5:2487:31920:20393,LH00995:48:23YTGFLT4:6:1102:4074:20113,LH00995:48:23YTGFLT4:6:1260:6275:11902,LH00995:48:23YTGFLT4:6:1280:46118:25339,LH00995:48:23YTGFLT4:6:1398:17415:14242,LH00995:48:23YTGFLT4:6:1467:39872:21052,LH00995:48:23YTGFLT4:6:2101:34881:20729,LH00995:48:23YTGFLT4:6:2147:24914:14059,LH00995:48:23YTGFLT4:6:2161:3168:22551,LH00995:48:23YTGFLT4:6:2345:37664:16105,LH00995:48:23YTGFLT4:6:2438:48011:2724,LH00995:48:23YTGFLT4:7:1113:1930:18361,LH00995:48:23YTGFLT4:7:1118:25844:24527,LH00995:48:23YTGFLT4:7:2150:50252:19104,LH00995:48:23YTGFLT4:7:2198:6695:4699,LH00995:48:23YTGFLT4:7:2201:1574:3200,LH00995:48:23YTGFLT4:7:2455:7925:24485,LH00995:48:23YTGFLT4:8:1122:32786:14073,LH00995:48:23YTGFLT4:8:1465:21759:22859,LH00995:48:23YTGFLT4:8:1465:21848:24611
PCDHGA4 PCDHGC3 +/+ +/+ chr5:141357621 chr5:141494807 CDS CDS/splice-site deletion/read-through 9 0 0 93 18228 low 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(24),low_entropy(1),mismappers(1) CGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG ADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS LH00995:48:23YTGFLT4:1:1418:6161:13919,LH00995:48:23YTGFLT4:1:2152:40690:18039,LH00995:48:23YTGFLT4:2:1150:7755:3312,LH00995:48:23YTGFLT4:2:2365:11841:27427,LH00995:48:23YTGFLT4:3:1378:10198:19875,LH00995:48:23YTGFLT4:3:1486:9753:2121,LH00995:48:23YTGFLT4:3:1489:29558:3999,LH00995:48:23YTGFLT4:3:2438:9252:9912,LH00995:48:23YTGFLT4:4:2159:45956:4237,LH00995:48:23YTGFLT4:4:2160:27333:7404,LH00995:48:23YTGFLT4:4:2392:21395:16203,LH00995:48:23YTGFLT4:4:2481:34307:18613,LH00995:48:23YTGFLT4:5:1255:2537:6409,LH00995:48:23YTGFLT4:5:1414:11323:4055,LH00995:48:23YTGFLT4:5:2242:7949:17885,LH00995:48:23YTGFLT4:5:2487:31920:20393,LH00995:48:23YTGFLT4:6:1102:4074:20113,LH00995:48:23YTGFLT4:6:1260:6275:11902,LH00995:48:23YTGFLT4:6:1280:46118:25339,LH00995:48:23YTGFLT4:6:1398:17415:14242,LH00995:48:23YTGFLT4:6:1467:39872:21052,LH00995:48:23YTGFLT4:6:2101:34881:20729,LH00995:48:23YTGFLT4:6:2147:24914:14059,LH00995:48:23YTGFLT4:6:2161:3168:22551,LH00995:48:23YTGFLT4:6:2345:37664:16105,LH00995:48:23YTGFLT4:6:2438:48011:2724,LH00995:48:23YTGFLT4:7:1113:1930:18361,LH00995:48:23YTGFLT4:7:1118:25844:24527,LH00995:48:23YTGFLT4:7:2150:50252:19104,LH00995:48:23YTGFLT4:7:2198:6695:4699,LH00995:48:23YTGFLT4:7:2201:1574:3200,LH00995:48:23YTGFLT4:7:2455:7925:24485,LH00995:48:23YTGFLT4:8:1122:32786:14073,LH00995:48:23YTGFLT4:8:1465:21759:22859,LH00995:48:23YTGFLT4:8:1465:21848:24611
ARL17B KANSL1 -/- -/- chr17:46352820 chr17:46094701 CDS/splice-site CDS/splice-site deletion/read-through 6 2 0 2019 1310 low out-of-frame . ADP-ribosylation_factor_family(96%)|PEHE_domain(100%) . . ENSG00000228696.10 ENSG00000120071.15 ENST00000570618.5 ENST00000574590.6 upstream downstream duplicates(6) GGTTTCTGTGTGGAGACAGTAGAATATAAAAATAACACCTTCGCTGTCTGGGATGTTGGCAGCCACTTCAAAATCAGACCTCTGTGGCAGCATTTTTTCCAGAACACAAAAG|GAGACGCAGGTCAGAATGGAAATGGGCTGCAGACCGGGCAGCTATTGTCAGCCGCTGGAACTGGCTTCAGGCTCATGTTTCTGACTTGGAATATCGAATTCGTCAGCAAACAGACATTTACAAACAGAT GFCVETVEYKNNTFAVWDVGSHFKIRPLWQHFFQNTK|gdagqngnglqtgqllsaagtgfrlmfltwniefvskqtftnr LH00995:48:23YTGFLT4:5:1141:2998:13989,LH00995:48:23YTGFLT4:7:2177:29250:19496,LH00995:48:23YTGFLT4:1:1420:33255:16343,LH00995:48:23YTGFLT4:1:2224:18968:17857,LH00995:48:23YTGFLT4:2:1166:42866:29011,LH00995:48:23YTGFLT4:2:2404:48982:13709,LH00995:48:23YTGFLT4:3:2232:11687:25227,LH00995:48:23YTGFLT4:3:2398:31548:8146,LH00995:48:23YTGFLT4:4:1385:2869:3957,LH00995:48:23YTGFLT4:4:2217:19453:10206,LH00995:48:23YTGFLT4:4:2413:11768:3228,LH00995:48:23YTGFLT4:5:2128:31896:14326,LH00995:48:23YTGFLT4:7:1292:50033:19370,LH00995:48:23YTGFLT4:7:2466:34921:23882
NPHP3 ACAD11 -/- -/- chr3:132681914 chr3:132644896 CDS CDS/splice-site deletion/read-through 6 0 0 280 1046 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(6),mismappers(2) GAAACATCACTCTTGGGTGGAAAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTATCTCCAGAAGGGCTTTCAAAC ETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTFYLQKGFQ LH00995:48:23YTGFLT4:1:1178:42583:11789,LH00995:48:23YTGFLT4:1:2134:27875:4307,LH00995:48:23YTGFLT4:1:2328:18159:10122,LH00995:48:23YTGFLT4:2:1439:3694:11888,LH00995:48:23YTGFLT4:2:2129:31823:24373,LH00995:48:23YTGFLT4:2:2167:16047:14956,LH00995:48:23YTGFLT4:2:2235:11072:18866,LH00995:48:23YTGFLT4:3:1259:36030:9688,LH00995:48:23YTGFLT4:4:1125:22519:25634,LH00995:48:23YTGFLT4:4:2180:47687:11663,LH00995:48:23YTGFLT4:6:1433:20044:18263,LH00995:48:23YTGFLT4:6:2350:2796:11033,LH00995:48:23YTGFLT4:7:1377:52072:26236,LH00995:48:23YTGFLT4:8:2173:31418:20141
C1QTNF3 AMACR -/- -/- chr5:34020587 chr5:34005899 CDS CDS/splice-site deletion/read-through 3 2 0 162 484 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(5) GCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGG LAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcq LH00995:48:23YTGFLT4:5:2254:17309:21262,LH00995:48:23YTGFLT4:7:1366:33506:11537,LH00995:48:23YTGFLT4:8:1409:29800:21374,LH00995:48:23YTGFLT4:1:2411:26629:18431,LH00995:48:23YTGFLT4:3:1126:28417:4377,LH00995:48:23YTGFLT4:3:2480:17560:22593,LH00995:48:23YTGFLT4:5:1151:7893:3158,LH00995:48:23YTGFLT4:6:1418:25966:27876,LH00995:48:23YTGFLT4:6:2308:15708:11229,LH00995:48:23YTGFLT4:7:1309:10692:18095
C1QTNF3 AMACR -/- -/- chr5:34028754 chr5:34005899 CDS/splice-site CDS/splice-site deletion/read-through 1 1 0 209 484 low in-frame . C1q_domain(34%),Collagen_triple_helix_repeat_(20_copies)(100%)|CoA-transferase_family_III(77%),Lyase(100%) . . ENSG00000082196.21 ENSG00000242110.8 ENST00000382065.8 ENST00000335606.11 upstream downstream duplicates(3) CTGGCAACCCACTTCAGCAATCAGAACAGTGGGATTATCTTCAGCAGTGTTGAGACCAACATTGGAAACTTCTTTGATGTCATGACTGGTAGATTTGGGGCCCCAGTATCAG|GTGTCATGGAGAAACTCCAGCTGGGCCCAGA--TTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTGGCCACGATATCAACTATTTGGCTTTGTCA LATHFSNQNSGIIFSSVETNIGNFFDVMTGRFGAPVS|gVMEKLQLGPdsaagkskaylcqaewiwpvrkllpvswpryqlfgfv LH00995:48:23YTGFLT4:1:2355:52153:28814,LH00995:48:23YTGFLT4:4:1302:25780:14718,LH00995:48:23YTGFLT4:8:2147:16776:20001,LH00995:48:23YTGFLT4:4:1441:30067:9001,LH00995:48:23YTGFLT4:7:2304:1663:4083
LY75 CD302 -/- -/- chr2:159808449 chr2:159783469 CDS/splice-site CDS/splice-site deletion/read-through 3 2 0 182 1342 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) GGCATTGCACAGTTTTTCAGAGGCCAAAAAATTGTGTTCAAAACATG___ATCACTCTGCAACTATCGTTTCCATAAAAGATGAAGATGAGAATAAATTTGTGAGCAGACTGATGAGGGAAAATAATAACATTACCATGAGAGTTTGGCTTGGATTATCTCAACATTCTGTTG|ACTGTCCTTCATCTACTTGGATTCAGTTCCAAGACAGTTGTTACATTTTTCTCCAAGAAGCCATCAAAGTAGAAAGCATAGAGGATGTCAGAAATCAGTGTACTGACCATGG ALHSFSEAKKLCSKHDHSATIVSIKDEDENKFVSRLMRENNNITMRVWLGLSQHSV|dCPSSTWIQFQDSCYIFLQEAIKVESIEDVRNQCTDH LH00995:48:23YTGFLT4:4:1239:20578:5428,LH00995:48:23YTGFLT4:8:1270:22560:23462,LH00995:48:23YTGFLT4:1:1458:22843:12686,LH00995:48:23YTGFLT4:2:2463:43853:19987,LH00995:48:23YTGFLT4:3:1230:19243:18193,LH00995:48:23YTGFLT4:3:2320:3589:18263,LH00995:48:23YTGFLT4:5:1442:18895:7502,LH00995:48:23YTGFLT4:6:2442:6720:14045
LY75 CD302 -/- -/- chr2:159806973 chr2:159783469 CDS/splice-site CDS/splice-site deletion/read-through 0 0 0 375 1342 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(6),read_through(11) GGTGTTGGAAGATGTAGCATGTTGATAGCTTCAAATGAAACTTGGAAAAAAGTTGAATGTGAACATGGTTTTGGAAGAGTTGTCTGCAAAGTGCCTCTGG|ACTGTCCTTC?TCTACTTGGATTCAGTTCCAAGACAGTTGTTACATTTTTCTCCAAGAAGCCATCAAAGTAGAAAGCATAGAGGATGTCAGAAATCAGTGTACTGACCATGG...___GAGCGGACATGATAAGCATAC GVGRCSMLIASNETWKKVECEHGFGRVVCKVPL|dCPSSTWIQFQDSCYIFLQEAIKVESIEDVRNQCTDH LH00995:48:23YTGFLT4:1:1117:33044:11299,LH00995:48:23YTGFLT4:1:1264:28660:5862,LH00995:48:23YTGFLT4:1:2340:51360:21780,LH00995:48:23YTGFLT4:2:2462:31702:15026,LH00995:48:23YTGFLT4:2:2484:44233:25129,LH00995:48:23YTGFLT4:4:1170:29307:11719,LH00995:48:23YTGFLT4:5:1130:7601:23392,LH00995:48:23YTGFLT4:5:1130:9875:29459,LH00995:48:23YTGFLT4:5:1150:25852:1785,LH00995:48:23YTGFLT4:5:1246:49872:19062,LH00995:48:23YTGFLT4:5:1318:18822:27721,LH00995:48:23YTGFLT4:6:1318:5053:1490,LH00995:48:23YTGFLT4:8:1270:36062:22271,LH00995:48:23YTGFLT4:8:1270:36070:22257,LH00995:48:23YTGFLT4:1:2205:10837:23392,LH00995:48:23YTGFLT4:4:1262:20238:11817,LH00995:48:23YTGFLT4:7:1336:6550:9071
LRTOMT AP000812.3 +/+ +/+ chr11:72095096 chr11:72107923 CDS/splice-site CDS/splice-site deletion/read-through 3 2 0 1416 58 low out-of-frame . Leucine-rich_repeat(78%),Leucine_rich_repeat(100%)|O-methyltransferase(96%) . . ENSG00000184154.15 ENSG00000284844.1 ENST00000289488.7 ENST00000541899.2 downstream upstream duplicates(7) CTATCTTCACGGCAACAGCATCCAGCGCCTGGGGGAGGTGAATAAGCTGGCTGTCCTTCCTCGGCTCCGTAGCCTGACACTCCATGGGAACCCCATGGAGGAAGAGAAAGGGTATAG|GTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCC YLHGNSIQRLGEVNKLAVLPRLRSLTLHGNPMEEEKGYr|sdpdaagggegpclcagignllwilypaycpspa LH00995:48:23YTGFLT4:1:1397:9268:24961,LH00995:48:23YTGFLT4:2:1158:37809:9604,LH00995:48:23YTGFLT4:2:1497:10991:28310,LH00995:48:23YTGFLT4:4:2392:24599:14942,LH00995:48:23YTGFLT4:5:1309:21201:5274,LH00995:48:23YTGFLT4:6:1458:6598:15236,LH00995:48:23YTGFLT4:6:2360:11533:9968,LH00995:48:23YTGFLT4:6:2433:10182:25620,LH00995:48:23YTGFLT4:8:2472:28352:11467,LH00995:48:23YTGFLT4:5:2496:33716:2794,LH00995:48:23YTGFLT4:7:1453:11282:1154,LH00995:48:23YTGFLT4:8:1412:15255:19720
LRTOMT AP000812.3 +/+ +/+ chr11:72095096 chr11:72108605 CDS/splice-site CDS/splice-site deletion/read-through 1 0 0 1416 29 low out-of-frame . Leucine-rich_repeat(78%),Leucine_rich_repeat(100%)|O-methyltransferase(46%) . . ENSG00000184154.15 ENSG00000284844.1 ENST00000289488.7 ENST00000541899.2 downstream upstream . AGCTGGCTGTCCTTCCTCGGCTCCGTAGCCTGACACTCCATGGGAACCCCATGGAGGAAGAGAAAGGGTATAG|GTGGAGCTCATCGTGGGCAGCTCAGAGGACGTGATCCCGTGCCTACGCACCCAGTATCAGCTGAGTCGGGC LAVLPRLRSLTLHGNPMEEEKGYr|wssswaaqrt* LH00995:48:23YTGFLT4:8:2191:34476:29025
CRYZL2P SEC16B -/- -/- chr1:178026155 chr1:177968039 exon/splice-site 5'UTR/splice-site deletion/read-through 0 4 0 9 63 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(4),mismappers(1) GGTAATATAGCTGCTGCTGGAAGTGACGAGAAGTGCAAGCTGGCGATGCAGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTCC . LH00995:48:23YTGFLT4:1:1124:5077:17114,LH00995:48:23YTGFLT4:1:1457:12884:21640,LH00995:48:23YTGFLT4:7:1432:42825:23139,LH00995:48:23YTGFLT4:7:1432:42833:23125,LH00995:48:23YTGFLT4:7:2340:43230:18011,LH00995:48:23YTGFLT4:8:1162:37462:14942,LH00995:48:23YTGFLT4:8:2496:46239:17927,LH00995:48:23YTGFLT4:8:2496:46239:17955,LH00995:48:23YTGFLT4:8:2496:46247:17941
CRYZL2P SEC16B -/- -/- chr1:178022440 chr1:177968039 exon/splice-site 5'UTR/splice-site deletion/read-through 0 1 0 3 63 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 . GCATCCAGCTATATGTCAGAATGGTTTTCAAGCTGGACGAG|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCC . LH00995:48:23YTGFLT4:8:1308:36968:28240
TMED7 TICAM2 -/- -/- chr5:115616318 chr5:115581315 CDS 5'UTR/splice-site deletion/read-through 1 3 0 941 189 low stop-codon . emp24/gp25L/p24_family/GOLD(86%)|TIR_domain(100%) . . ENSG00000134970.14 ENSG00000243414.6 ENST00000456936.4 ENST00000427199.3 upstream downstream duplicates(9),mismappers(1) TGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCC . LH00995:48:23YTGFLT4:1:1161:19591:28828,LH00995:48:23YTGFLT4:1:1334:39945:2766,LH00995:48:23YTGFLT4:3:1112:40495:26671,LH00995:48:23YTGFLT4:3:1354:23531:19062,LH00995:48:23YTGFLT4:3:2383:26119:8861,LH00995:48:23YTGFLT4:5:1439:36572:2752,LH00995:48:23YTGFLT4:6:2494:11711:13275,LH00995:48:23YTGFLT4:7:2488:1744:17478,LH00995:48:23YTGFLT4:7:2488:1752:17492,LH00995:48:23YTGFLT4:7:2488:1769:17492,LH00995:48:23YTGFLT4:8:2152:2691:17689,LH00995:48:23YTGFLT4:8:2307:27559:16315,LH00995:48:23YTGFLT4:4:1211:4212:27049,LH00995:48:23YTGFLT4:5:2188:10700:6171
TMED7 TICAM2 -/- -/- chr5:115620435 chr5:115581315 CDS/splice-site 5'UTR/splice-site deletion/read-through 2 1 0 744 189 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) GGGACATACAAATTTTGCTTCAGCAATGAATTTTCTACTTTCACACATAAAACTGTATATTTTGATTTTCAAGTTGGAGAAGACCCACCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGCACAGCAAT GTYKFCFSNEFSTFTHKTVYFDFQVGEDPPLFPSENRVSALTQ|iekkc* LH00995:48:23YTGFLT4:3:1271:2278:26783,LH00995:48:23YTGFLT4:3:1171:27155:27553,LH00995:48:23YTGFLT4:3:2393:41046:11902,LH00995:48:23YTGFLT4:7:2279:22819:14578
ISY1 RAB43 -/- -/- chr3:129134074 chr3:129095169 CDS/splice-site CDS/splice-site deletion/read-through 4 0 0 3261 2101 low in-frame . Isy1-like_splicing_family(84%)|Ras_family(69%) . . ENSG00000240682.10 ENSG00000172780.17 ENST00000393295.8 ENST00000393305.5 upstream downstream duplicates(5) GGAAAAGTGGAAAGCAGAGAGAGAGGCTCGGCTGGCAAGAGGAGAAAAGGAAGAGGAGGAGGAAGAGGAGGAAGAGATCAACATCTATGCAGTCACCGAGGAGGAG|CTGCAGATCTGGGACACGGCCGGCCAGGAGCGGTTCCGCACCATCACCCAGAG EKWKAEREARLARGEKEEEEEEEEEINIYAVTEEE|LQIWDTAGQERFRTITQ LH00995:48:23YTGFLT4:1:1161:28053:6409,LH00995:48:23YTGFLT4:1:2267:17754:12224,LH00995:48:23YTGFLT4:3:2260:10263:15811,LH00995:48:23YTGFLT4:4:1370:44087:1925,LH00995:48:23YTGFLT4:4:2172:34582:11832,LH00995:48:23YTGFLT4:5:2291:12383:28758,LH00995:48:23YTGFLT4:5:2410:21985:1476,LH00995:48:23YTGFLT4:7:2349:5627:8006,LH00995:48:23YTGFLT4:8:1483:4729:17296
ISY1 RAB43 -/- -/- chr3:129130550 chr3:129095169 CDS/splice-site CDS/splice-site deletion/read-through 0 0 0 2735 2101 low . . Isy1-like_splicing_family(94%)|Ras_family(69%) . . ENSG00000240682.10 ENSG00000172780.17 ENST00000471497.5 ENST00000393305.5 upstream downstream duplicates(5),read_through(5) TGTTTGAAAAAGAAC___TCGGACGAGGAAGGCAGCCAGGAGAAAGGAGGGGACGACAGCCAGCAGAAGTTCATTGCTCACGTCCCTGTTCCCTCGCAGCAAGAG|CTGCAGATCTGGGACACGGCCGGCCAGGAGCGGTTCCGCACCATCACCCAGAGCTACTACCGC . LH00995:48:23YTGFLT4:2:1331:34582:28702,LH00995:48:23YTGFLT4:4:2475:1720:9870,LH00995:48:23YTGFLT4:1:1463:5652:5470,LH00995:48:23YTGFLT4:1:2222:12731:12070,LH00995:48:23YTGFLT4:4:1468:36475:28786,LH00995:48:23YTGFLT4:4:2425:31022:7964,LH00995:48:23YTGFLT4:4:2462:42219:29683,LH00995:48:23YTGFLT4:7:1225:15360:9786,LH00995:48:23YTGFLT4:7:1225:15368:9772,LH00995:48:23YTGFLT4:7:1225:15376:9758
STON1 GTF2A1L +/+ +/+ chr2:48591855 chr2:48620851 CDS/splice-site CDS/splice-site deletion/read-through 0 4 0 405 8 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(4) TGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCA CASRTEVRSLGVESDVQPQKHVQQRACYNIQ|PKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSK LH00995:48:23YTGFLT4:1:2330:18046:16680,LH00995:48:23YTGFLT4:2:1381:20780:20575,LH00995:48:23YTGFLT4:3:1114:21079:20589,LH00995:48:23YTGFLT4:3:1114:21087:20575,LH00995:48:23YTGFLT4:3:2398:6801:27217,LH00995:48:23YTGFLT4:4:1239:27341:5904,LH00995:48:23YTGFLT4:4:2384:35649:14101,LH00995:48:23YTGFLT4:6:2445:26783:13261
STON1 GTF2A1L +/+ +/+ chr2:48591855 chr2:48621167 CDS/splice-site CDS/splice-site deletion/read-through 1 2 0 405 23 low in-frame . Adaptor_complexes_medium_subunit_family(99%)|Transcription_factor_IIA__alpha/beta_subunit(93%) . . ENSG00000243244.7 ENSG00000242441.8 ENST00000649748.1 ENST00000430487.6 downstream upstream duplicates(1) GCCTCAAGGACAGAGGTCAGGTCTgTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___CATCATTAGTTATTCCTGCTGGTAGAACTCTTCCAAGTTTTACCACAGCAGAACTG___GGCACTTCAAA ASRTEVRSvGVESDVQPQKHVQQRACYNIQ|LWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTASLVIPAGRTLPSFTTAELGTS LH00995:48:23YTGFLT4:6:2451:2011:5890,LH00995:48:23YTGFLT4:4:1426:34250:19300,LH00995:48:23YTGFLT4:5:1217:43529:8945,LH00995:48:23YTGFLT4:7:1484:3734:12995
STON1 GTF2A1L +/+ +/+ chr2:48582563 chr2:48621167 CDS/splice-site CDS/splice-site deletion/read-through 0 1 0 149 23 low out-of-frame . Adaptor_complexes_medium_subunit_family(63%)|Transcription_factor_IIA__alpha/beta_subunit(93%) . . ENSG00000243244.7 ENSG00000242441.8 ENST00000649748.1 ENST00000437125.5 downstream upstream duplicates(1),low_entropy(1) CCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAGGTTGGATACCATTAGTAAATGAGTACTGTTAGTATCTTCAGAACAAATTCTCATTTGGGAATGTTTTTC PDKNS|tlgnqgfav* LH00995:48:23YTGFLT4:2:1440:26896:13065,LH00995:48:23YTGFLT4:4:2388:4220:27988,LH00995:48:23YTGFLT4:7:1154:44225:8104
SPECC1L ADORA2A +/+ +/+ chr22:24369320 chr22:24440583 CDS/splice-site CDS/splice-site deletion/read-through 3 1 0 993 330 low out-of-frame . Calponin_homology_(CH)_domain(16%)|7_transmembrane_receptor_(rhodopsin_family)(66%) . . ENSG00000100014.20 ENSG00000128271.22 ENST00000437398.5 ENST00000611543.4 downstream upstream duplicates(5) ACGGCATCTGTGACTCCCACCACCCGAAGCCGAATAAG___AGAAGAAAGGAAAGACCCTCTCTCAGCATTGGCCAGAGAATATGGAGGATCAAAGAGGAACGCCTTGCTGAAGTGGTGTCAGAAGAAAACAGAAGGCTATCAG|GTACAATGGCTTGGTGACCGGCACGAGGGCTAAGGGCATCATTGCCATCTGCTGGGTGCTGTCGTTTGCCATCGGCCTGACTCCCATGCTAGGTTGGAACAACTGCGGTCAGCCAAAGGAGGGCAAGAACCAC TASVTPTTRSRIREERKDPLSALAREYGGSKRNALLKWCQKKTEGYQ|vqwlgdrheg* LH00995:48:23YTGFLT4:4:2166:30375:23966,LH00995:48:23YTGFLT4:4:2175:35132:6871,LH00995:48:23YTGFLT4:5:1310:9834:14144,LH00995:48:23YTGFLT4:6:2376:26750:12784,LH00995:48:23YTGFLT4:6:2376:26767:12784,LH00995:48:23YTGFLT4:6:2376:26775:12770,LH00995:48:23YTGFLT4:8:2380:33328:25045,LH00995:48:23YTGFLT4:3:2250:22212:14564,LH00995:48:23YTGFLT4:3:2423:12237:17913
SPECC1L ADORA2A +/+ +/+ chr22:24369320 chr22:24433131 CDS/splice-site 5'UTR/splice-site deletion/read-through 1 1 0 993 4 low out-of-frame . Calponin_homology_(CH)_domain(16%)|7_transmembrane_receptor_(rhodopsin_family)(100%) . . ENSG00000100014.20 ENSG00000128271.22 ENST00000437398.5 ENST00000611543.4 downstream upstream duplicates(2) CTCTCTCAGCATTGGCCAGAGAATATGGAGGATCAAAGAGGAACGCCTTGCTGAAGTGGTGTCAGAAGAAAACAGAAGGCTATCAG|GTGCCTCAGGAACCCTGAAGCTGGGCTGAGCCATGATGCTGCTGCCAGAACCCCTGCAGAGGGCCTGGTTTCAGGAGACTCAGAGTCCTCTGTGAAAAAG LSALAREYGGSKRNALLKWCQKKTEGYQ|vpqep* LH00995:48:23YTGFLT4:1:1228:16589:15082,LH00995:48:23YTGFLT4:5:2411:18927:17366,LH00995:48:23YTGFLT4:7:1419:38036:29557,LH00995:48:23YTGFLT4:7:1418:23159:26460
CDH18 STRN4 -/- -/- chr5:20575750 chr19:46730869 5'UTR CDS translocation 0 4 0 3 3087 low . . |WD_domain__G-beta_repeat(100%) . . ENSG00000145526.12 ENSG00000090372.15 ENST00000507958.5 ENST00000391910.7 upstream downstream duplicates(2) CGGGGAGAGAGAGAGAGAGAGGAAC|GCGGCAGGCAAAGATGGCAAAGAGCGCTTGGGCGGCTCAGTGCTGGGGCAGATCCCCTTCCTGCAGAACTGCGAGGACGAAGACAGCGACGAGGACGATGAGCTGGACAGCGTGCAGCACAAGAAGCAGCGTGTGAAG . LH00995:48:23YTGFLT4:1:2150:16646:23223,LH00995:48:23YTGFLT4:2:2227:25561:26278,LH00995:48:23YTGFLT4:3:1216:44298:13667,LH00995:48:23YTGFLT4:3:2316:11299:14718,LH00995:48:23YTGFLT4:6:2295:2990:14144,LH00995:48:23YTGFLT4:8:2379:41118:21584
AL356364.1(38681),ZC3H11B(11628) IGH-@-ext ./- +/- chr1:219596382 chr14:105841227 intergenic exon translocation 0 3 0 0 907 low . . . . . . IGH-.g@-ext . . upstream downstream duplicates(3),mismappers(3),mismatches(6) GAGAGAGAGAGAGAGACAAAGACAC|CAGAGTGTCCGAGCCACACCCAGCCTCTTGGCGTCTACCTGCTAACCCCTGCAGTGCAGGACCTGTGGCTCCGGGACAAAGCCACCTTCACCTGCTTCGTGGTGGGCAGTGACCTGAAGGATGCTCACCTGACCTGG . LH00995:48:23YTGFLT4:2:2420:8831:20925,LH00995:48:23YTGFLT4:3:1161:36378:26348,LH00995:48:23YTGFLT4:3:1161:36394:26348,LH00995:48:23YTGFLT4:4:1213:41515:11986,LH00995:48:23YTGFLT4:4:1359:27592:5778,LH00995:48:23YTGFLT4:4:2481:15214:5218,LH00995:48:23YTGFLT4:5:1213:11501:7390,LH00995:48:23YTGFLT4:5:1432:13046:20463,LH00995:48:23YTGFLT4:5:1486:46878:12812,LH00995:48:23YTGFLT4:5:2146:41482:3522,LH00995:48:23YTGFLT4:6:1139:7715:1897,LH00995:48:23YTGFLT4:7:2325:12399:2976,LH00995:48:23YTGFLT4:8:1133:39597:16904,LH00995:48:23YTGFLT4:8:1497:20052:3284,LH00995:48:23YTGFLT4:8:2114:7844:9632
AC092807.3 DDAH1 -/- -/- chr1:85496166 chr1:85358847 exon/splice-site CDS/splice-site deletion/read-through 2 1 0 7 159 low . . |Arginine_deiminase(65%) . . ENSG00000282057.1 ENSG00000153904.21 ENST00000467666.2 ENST00000284031.13 upstream downstream duplicates(4) CCCAGTGTGTGATGTTCCCTTTCCTGAGTAACACCATTTTCTATCTAAATGAAGAAATGGAGGCATGGAAG___TTTCATCTGTATGGAAAAGGAGCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATACAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTA . LH00995:48:23YTGFLT4:4:1298:5199:28674,LH00995:48:23YTGFLT4:5:1160:37712:20869,LH00995:48:23YTGFLT4:6:1478:14421:9758,LH00995:48:23YTGFLT4:1:2349:3451:7516,LH00995:48:23YTGFLT4:4:1472:5239:27763,LH00995:48:23YTGFLT4:4:1472:5247:27749,LH00995:48:23YTGFLT4:8:1212:42898:1070
AC092807.3 DDAH1 -/- -/- chr1:85577984 chr1:85358847 exon/splice-site CDS/splice-site deletion/read-through 0 2 0 0 159 low . . |Arginine_deiminase(65%) . . ENSG00000282057.1 ENSG00000153904.21 ENST00000498304.5 ENST00000284031.13 upstream downstream duplicates(4) GACGGACAGGAGGCGAAATGTGCAAATGTTTATGG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTT . LH00995:48:23YTGFLT4:1:2452:32195:20954,LH00995:48:23YTGFLT4:1:2452:32211:20954,LH00995:48:23YTGFLT4:3:2271:16306:29585,LH00995:48:23YTGFLT4:5:2281:2618:17563,LH00995:48:23YTGFLT4:6:2479:26605:21892,LH00995:48:23YTGFLT4:7:1397:16428:10542
ZNF547 ZNF548(7888),ZNF17(281) +/+ ./+ chr19:57371908 chr19:57410880 CDS/splice-site intergenic deletion/read-through 2 1 0 245 85 low out-of-frame . KRAB_box(98%)| . . ENSG00000152433.15 . ENST00000282282.4 . downstream upstream duplicates(5) CAGAGATTGCTGTACCGTGATGTGATGCTGGAGAATTTGGCCCTTTTGTCCTCACTAG|ACTGCCTTCCGGGAAAATCTGGATGCTTGCCGTTTAAAAGCCAATGAAGCCCCTCCACGTCCTTGGAGCCCC QRLLYRDVMLENLALLSSL|dclpgksgclpfksq* LH00995:48:23YTGFLT4:1:2237:37898:5246,LH00995:48:23YTGFLT4:2:1186:18523:3999,LH00995:48:23YTGFLT4:2:2121:40552:1518,LH00995:48:23YTGFLT4:3:1129:28595:1659,LH00995:48:23YTGFLT4:3:1266:24178:28450,LH00995:48:23YTGFLT4:7:2401:35172:17478,LH00995:48:23YTGFLT4:8:1186:41321:4391,LH00995:48:23YTGFLT4:8:1356:42736:22565
RAD51D RFFL -/- -/- chr17:35101201 chr17:35026561 CDS/splice-site 5'UTR/splice-site deletion/read-through 1 2 0 556 852 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) CTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTtCAACCCTGGGTACAGCTCCTTCCCTTCCCCAACAGGCTTGGAACCAAGCTGCAAGTCCTGT ALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|ilscgqpaatgsawmdslrrshhprepgcrpistlgtapslpqqawnqaasp LH00995:48:23YTGFLT4:2:2176:31435:12378,LH00995:48:23YTGFLT4:3:2229:51020:12364,LH00995:48:23YTGFLT4:4:2380:47542:1939,LH00995:48:23YTGFLT4:7:1203:17479:2667,LH00995:48:23YTGFLT4:8:1275:9406:5302,LH00995:48:23YTGFLT4:2:1316:14996:17703
NOTCH2NLB GIGYF1(119),POP7(11752) -/- ./- chr1:148679552 chr7:100694369 5'UTR intergenic translocation 3 0 0 1743 33698 low . . . . . ENSG00000286019.1 . ENST00000593495.3 . upstream downstream duplicates(7),multimappers(3) AGCCTTTGAAGCAGGAGGAGGGGAGGAGAGAGTGGGGCTCCTCTATCGGGACCCCCTCCCCATGTGGATCTGCCCAGGCGGCGGCGGCGG|CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGaCGGC . LH00995:48:23YTGFLT4:1:1107:28207:12700,LH00995:48:23YTGFLT4:1:1186:45527:8959,LH00995:48:23YTGFLT4:1:2189:17657:22145,LH00995:48:23YTGFLT4:2:1140:49936:27329,LH00995:48:23YTGFLT4:3:2494:51134:20939,LH00995:48:23YTGFLT4:4:1457:40463:19861,LH00995:48:23YTGFLT4:4:1495:26880:1715,LH00995:48:23YTGFLT4:4:2497:16889:21038,LH00995:48:23YTGFLT4:5:1181:43100:22971,LH00995:48:23YTGFLT4:5:1379:2335:28226,LH00995:48:23YTGFLT4:5:1428:29177:3648,LH00995:48:23YTGFLT4:5:2203:30399:17506,LH00995:48:23YTGFLT4:8:2333:13014:21836
LINC00551 GLI4 +/+ +/+ chr13:106714803 chr8:143268861 exon intron translocation 0 3 0 83 351 low . . |Zinc_finger__C2H2_type(100%) . . ENSG00000272274.2 ENSG00000250571.7 ENST00000663663.1 . downstream upstream duplicates(19),low_entropy(3),mismatches(1),multimappers(9) TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTT|GTTGTTTGAGTCTTGCTGTGTCTCCCAGGCTGGAGTGCAGGGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCTGAgTTCAAGCTGTTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCGCCAC . LH00995:48:23YTGFLT4:1:1217:32980:22032,LH00995:48:23YTGFLT4:1:1243:32527:22060,LH00995:48:23YTGFLT4:1:1362:37009:18613,LH00995:48:23YTGFLT4:1:2162:32778:17731,LH00995:48:23YTGFLT4:1:2476:35763:17829,LH00995:48:23YTGFLT4:3:1388:1752:13485,LH00995:48:23YTGFLT4:3:2101:27236:16708,LH00995:48:23YTGFLT4:3:2101:27252:16708,LH00995:48:23YTGFLT4:3:2297:44840:3088,LH00995:48:23YTGFLT4:3:2389:27932:21752,LH00995:48:23YTGFLT4:4:1210:6242:20337,LH00995:48:23YTGFLT4:5:1240:17568:27904,LH00995:48:23YTGFLT4:5:1242:47574:9702,LH00995:48:23YTGFLT4:5:2350:43731:13499,LH00995:48:23YTGFLT4:6:1453:41782:10430,LH00995:48:23YTGFLT4:6:2495:20408:18613,LH00995:48:23YTGFLT4:7:2189:26945:11551,LH00995:48:23YTGFLT4:7:2385:46296:25367,LH00995:48:23YTGFLT4:7:2385:46304:25353,LH00995:48:23YTGFLT4:7:2402:2998:20267,LH00995:48:23YTGFLT4:7:2471:43448:4657,LH00995:48:23YTGFLT4:8:2274:26985:21626,LH00995:48:23YTGFLT4:1:2180:27001:8903,LH00995:48:23YTGFLT4:2:1295:24550:18361,LH00995:48:23YTGFLT4:2:2436:35706:7081,LH00995:48:23YTGFLT4:4:1252:35407:3368,LH00995:48:23YTGFLT4:6:1256:46765:19258,LH00995:48:23YTGFLT4:6:1387:4430:9435,LH00995:48:23YTGFLT4:6:1387:4438:9421,LH00995:48:23YTGFLT4:8:1162:3629:6002,LH00995:48:23YTGFLT4:8:1219:19114:1490,LH00995:48:23YTGFLT4:8:1255:28312:29333,LH00995:48:23YTGFLT4:8:2175:37543:16063,LH00995:48:23YTGFLT4:8:2325:31095:8314
NBPF14 GIGYF1(119),POP7(11752) -/- ./- chr1:148679552 chr7:100694369 5'UTR intergenic translocation 3 0 0 1743 33698 low . . . . . ENSG00000270629.6 . ENST00000606877.2 . upstream downstream duplicates(7),multimappers(3) AGCCTTTGAAGCAGGAGGAGGGGAGGAGAGAGTGGGGCTCCTCTATCGGGACCCCCTCCCCATGTGGATCTGCCCAGGCGGCGGCGGCGG|CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGaCGGC . LH00995:48:23YTGFLT4:1:1107:28207:12700,LH00995:48:23YTGFLT4:1:1186:45527:8959,LH00995:48:23YTGFLT4:1:2189:17657:22145,LH00995:48:23YTGFLT4:2:1140:49936:27329,LH00995:48:23YTGFLT4:3:2494:51134:20939,LH00995:48:23YTGFLT4:4:1457:40463:19861,LH00995:48:23YTGFLT4:4:1495:26880:1715,LH00995:48:23YTGFLT4:4:2497:16889:21038,LH00995:48:23YTGFLT4:5:1181:43100:22971,LH00995:48:23YTGFLT4:5:1379:2335:28226,LH00995:48:23YTGFLT4:5:1428:29177:3648,LH00995:48:23YTGFLT4:5:2203:30399:17506,LH00995:48:23YTGFLT4:8:2333:13014:21836
PCDHGA5 PCDHGA8 +/+ +/+ chr5:141366751 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 0 0 116 18228 low 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(6) GCGGACTCGAGGAAGAGTCACCTGATCTTTCCtCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGC ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQN LH00995:48:23YTGFLT4:3:1284:22883:12952,LH00995:48:23YTGFLT4:3:1284:22900:12952,LH00995:48:23YTGFLT4:4:2189:29736:7698,LH00995:48:23YTGFLT4:4:2332:18491:6437,LH00995:48:23YTGFLT4:6:2365:50834:12238,LH00995:48:23YTGFLT4:7:2318:16112:13303,LH00995:48:23YTGFLT4:7:2407:39015:7908,LH00995:48:23YTGFLT4:8:1427:32106:18389,LH00995:48:23YTGFLT4:8:2336:17973:14648
PCDHGA5 PCDHGB6 +/+ +/+ chr5:141366751 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 0 0 116 18228 low 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(6) GCGGACTCGAGGAAGAGTCACCTGATCTTTCCtCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGC ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQN LH00995:48:23YTGFLT4:3:1284:22883:12952,LH00995:48:23YTGFLT4:3:1284:22900:12952,LH00995:48:23YTGFLT4:4:2189:29736:7698,LH00995:48:23YTGFLT4:4:2332:18491:6437,LH00995:48:23YTGFLT4:6:2365:50834:12238,LH00995:48:23YTGFLT4:7:2318:16112:13303,LH00995:48:23YTGFLT4:7:2407:39015:7908,LH00995:48:23YTGFLT4:8:1427:32106:18389,LH00995:48:23YTGFLT4:8:2336:17973:14648
PCDHGA5 PCDHGA11 +/+ +/+ chr5:141366751 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 0 0 116 18228 low 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(6) GCGGACTCGAGGAAGAGTCACCTGATCTTTCCtCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGC ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQN LH00995:48:23YTGFLT4:3:1284:22883:12952,LH00995:48:23YTGFLT4:3:1284:22900:12952,LH00995:48:23YTGFLT4:4:2189:29736:7698,LH00995:48:23YTGFLT4:4:2332:18491:6437,LH00995:48:23YTGFLT4:6:2365:50834:12238,LH00995:48:23YTGFLT4:7:2318:16112:13303,LH00995:48:23YTGFLT4:7:2407:39015:7908,LH00995:48:23YTGFLT4:8:1427:32106:18389,LH00995:48:23YTGFLT4:8:2336:17973:14648
PCDHGA5 PCDHGC4 +/+ +/+ chr5:141366751 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 0 0 116 18228 low 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(6) GCGGACTCGAGGAAGAGTCACCTGATCTTTCCtCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGC ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQN LH00995:48:23YTGFLT4:3:1284:22883:12952,LH00995:48:23YTGFLT4:3:1284:22900:12952,LH00995:48:23YTGFLT4:4:2189:29736:7698,LH00995:48:23YTGFLT4:4:2332:18491:6437,LH00995:48:23YTGFLT4:6:2365:50834:12238,LH00995:48:23YTGFLT4:7:2318:16112:13303,LH00995:48:23YTGFLT4:7:2407:39015:7908,LH00995:48:23YTGFLT4:8:1427:32106:18389,LH00995:48:23YTGFLT4:8:2336:17973:14648
PCDHGA5 PCDHGA10 +/+ +/+ chr5:141366751 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 0 0 116 18228 low 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(6) GCGGACTCGAGGAAGAGTCACCTGATCTTTCCtCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGC ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQN LH00995:48:23YTGFLT4:3:1284:22883:12952,LH00995:48:23YTGFLT4:3:1284:22900:12952,LH00995:48:23YTGFLT4:4:2189:29736:7698,LH00995:48:23YTGFLT4:4:2332:18491:6437,LH00995:48:23YTGFLT4:6:2365:50834:12238,LH00995:48:23YTGFLT4:7:2318:16112:13303,LH00995:48:23YTGFLT4:7:2407:39015:7908,LH00995:48:23YTGFLT4:8:1427:32106:18389,LH00995:48:23YTGFLT4:8:2336:17973:14648
UVSSA UVSSA +/+ +/+ chr4:1380988 chr4:1348090 CDS/splice-site CDS/splice-site duplication/non-canonical_splicing 0 3 0 893 993 low in-frame . Uncharacterized_conserved_protein_(DUF2043)(100%)|Uncharacterized_conserved_protein_(DUF2043)(100%) . . ENSG00000163945.19 ENSG00000163945.19 ENST00000511216.6 ENST00000677428.1 downstream upstream duplicates(5) GGGACGACGAAGGACGGCCGCTCGACCCGGAAGACAGGGCTCGTGAGCAGCGGCGGCAGCTGCAGAAGCAGGAGCGCCtGG|ATATGGATCAGAAACTTTCGAAGTTGGTAGAAGAGCTCACAACTTCAGGAGAACCCCGACTAAATCCTGAGAAAATGAAGGAACTGAAGAAAATTTGCAA___GTCTTCAGAGGAGCAGCTGAGCCGCGCC DDEGRPLDPEDRAREQRRQLQKQERl|dMDQKLSKLVEELTTSGEPRLNPEKMKELKKICKSSEEQLSR LH00995:48:23YTGFLT4:1:2144:46288:18571,LH00995:48:23YTGFLT4:2:1276:28255:16568,LH00995:48:23YTGFLT4:2:2159:37591:13905,LH00995:48:23YTGFLT4:3:1205:18822:18165,LH00995:48:23YTGFLT4:3:1363:30690:14676,LH00995:48:23YTGFLT4:3:1363:30763:17072,LH00995:48:23YTGFLT4:8:1343:2472:25241,LH00995:48:23YTGFLT4:8:1417:17455:6297
PCDHGA5 PCDHGA9 +/+ +/+ chr5:141366751 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 0 0 116 18228 low 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(6) GCGGACTCGAGGAAGAGTCACCTGATCTTTCCtCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGC ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQN LH00995:48:23YTGFLT4:3:1284:22883:12952,LH00995:48:23YTGFLT4:3:1284:22900:12952,LH00995:48:23YTGFLT4:4:2189:29736:7698,LH00995:48:23YTGFLT4:4:2332:18491:6437,LH00995:48:23YTGFLT4:6:2365:50834:12238,LH00995:48:23YTGFLT4:7:2318:16112:13303,LH00995:48:23YTGFLT4:7:2407:39015:7908,LH00995:48:23YTGFLT4:8:1427:32106:18389,LH00995:48:23YTGFLT4:8:2336:17973:14648
PCDHGA5 PCDHGC5 +/+ +/+ chr5:141366751 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 0 0 116 18228 low 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(6) GCGGACTCGAGGAAGAGTCACCTGATCTTTCCtCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGC ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQN LH00995:48:23YTGFLT4:3:1284:22883:12952,LH00995:48:23YTGFLT4:3:1284:22900:12952,LH00995:48:23YTGFLT4:4:2189:29736:7698,LH00995:48:23YTGFLT4:4:2332:18491:6437,LH00995:48:23YTGFLT4:6:2365:50834:12238,LH00995:48:23YTGFLT4:7:2318:16112:13303,LH00995:48:23YTGFLT4:7:2407:39015:7908,LH00995:48:23YTGFLT4:8:1427:32106:18389,LH00995:48:23YTGFLT4:8:2336:17973:14648
PCDHGA5 PCDHGB7 +/+ +/+ chr5:141366751 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 0 0 116 18228 low 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(6) GCGGACTCGAGGAAGAGTCACCTGATCTTTCCtCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGC ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQN LH00995:48:23YTGFLT4:3:1284:22883:12952,LH00995:48:23YTGFLT4:3:1284:22900:12952,LH00995:48:23YTGFLT4:4:2189:29736:7698,LH00995:48:23YTGFLT4:4:2332:18491:6437,LH00995:48:23YTGFLT4:6:2365:50834:12238,LH00995:48:23YTGFLT4:7:2318:16112:13303,LH00995:48:23YTGFLT4:7:2407:39015:7908,LH00995:48:23YTGFLT4:8:1427:32106:18389,LH00995:48:23YTGFLT4:8:2336:17973:14648
DAPK1 PDIA4 +/+ -/- chr9:87564617 chr7:149021093 intron CDS translocation 0 3 0 4 12872 low . . Protein_kinase_domain(3%)|Thioredoxin(100%),Thioredoxin-like_domain(100%) . . ENSG00000196730.13 ENSG00000155660.11 . ENST00000286091.9 downstream downstream multimappers(1) GGGGGAGAGAGAGAGAGAGAGGAGGAAG|ATGATGATGAGGAAGAAGACGACTTGGAAGTTAAGGAAGAAAATGGAGTCTTGGTCCTAAATGATGCAAACTTTGATAATTTTGTGGCTGACAAAGACACAGTGC . LH00995:48:23YTGFLT4:1:1467:11064:29249,LH00995:48:23YTGFLT4:3:1377:32551:16610,LH00995:48:23YTGFLT4:4:2204:34865:6829,LH00995:48:23YTGFLT4:6:1256:16379:12588
PCDHGA5 PCDHGA12 +/+ +/+ chr5:141366751 chr5:141494807 CDS CDS/splice-site deletion/read-through 3 0 0 116 18228 low 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(6) GCGGACTCGAGGAAGAGTCACCTGATCTTTCCtCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGC ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQN LH00995:48:23YTGFLT4:3:1284:22883:12952,LH00995:48:23YTGFLT4:3:1284:22900:12952,LH00995:48:23YTGFLT4:4:2189:29736:7698,LH00995:48:23YTGFLT4:4:2332:18491:6437,LH00995:48:23YTGFLT4:6:2365:50834:12238,LH00995:48:23YTGFLT4:7:2318:16112:13303,LH00995:48:23YTGFLT4:7:2407:39015:7908,LH00995:48:23YTGFLT4:8:1427:32106:18389,LH00995:48:23YTGFLT4:8:2336:17973:14648
CYSLTR2 SLC39A10 +/+ +/+ chr13:48654017 chr2:195680032 5'UTR/splice-site 5'UTR/splice-site translocation 0 2 0 2 391 low . . |ZIP_Zinc_transporter(100%) . . ENSG00000152207.7 ENSG00000196950.14 ENST00000614739.4 ENST00000458054.1 downstream upstream duplicates(3) GCAGAAGCCAGGGCAGCTGAAAGACAGAGACCTTCAG|GAAAAATAGAAATGAAGGTACATATGCACACAAAATTTTGCCTCATTTGTTTGCTGACATTTATTTTTCATCATTGCAACCATTGCCATGAAGAACATGACCATGGCCCTGAAGCGCTTtACAGACAGCATCGTGGAATGACAGAATTGGAGCCAAGCAAATTTTCAAA . LH00995:48:23YTGFLT4:2:1355:1971:18487,LH00995:48:23YTGFLT4:6:2254:2205:8945,LH00995:48:23YTGFLT4:8:1202:41264:15082,LH00995:48:23YTGFLT4:8:1346:45649:4741,LH00995:48:23YTGFLT4:8:1377:31831:1238
RBM28 KLHDC10 -/- +/+ chr7:128343676 chr7:130116445 CDS/splice-site CDS/splice-site inversion 0 2 0 1882 1321 low in-frame . RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(18%)|Galactose_oxidase__central_domain(100%),Kelch_motif(100%) . . ENSG00000106344.8 ENSG00000128607.14 ENST00000223073.6 ENST00000335420.10 upstream upstream . GGCCGGTGAAGCAGTGCTTCGTGGTGACTGAAAAAG|GCCACAGACCTCCACCAGCACGAAGTGGACATCGTTGTGTGGCAGATAATACCAACCTATATGTGTTTGGAGGTTATAACCCAGATT PVKQCFVVTEK|gHRPPPARSGHRCVADNTNLYVFGGYNPD LH00995:48:23YTGFLT4:5:2491:42340:29669,LH00995:48:23YTGFLT4:6:2351:18717:20589
GPALPP1 DIDO1 +/+ -/- chr13:44989742 chr20:62896996 CDS/splice-site CDS/splice-site translocation 2 0 0 2320 1271 low in-frame . |SPOC_domain(100%),Transcription_factor_S-II_(TFIIS)__central_domain(100%) . . ENSG00000133114.18 ENSG00000101191.17 ENST00000379151.9 ENST00000266070.8 downstream downstream duplicates(1) GGgTAGACTCATATCTGTGACCAGTGTCCGCCACCGCGGATGGCAAGAGACCTGATCGGACCGGCCCTGCCGCCCGGCTTCAAGGCCCGCGGAACAGCGGAGGACGAAGAGCGGGACCCGAGCCCTG|CCACGAAGGAAGACAGGAGGTCCGAGGAGAAAGCGGCAGCCATGGCAGCCTCAAAG MARDLIGPALPPGFKARGTAEDEERDPSP|aTKEDRRSEEKAAAMAAS LH00995:48:23YTGFLT4:1:1278:28474:20477,LH00995:48:23YTGFLT4:1:1278:28490:20477,LH00995:48:23YTGFLT4:1:1421:39961:28660
SNTB1 TRIQK -/- -/- chr8:120575086 chr8:92917007 CDS/splice-site 5'UTR/splice-site deletion 2 0 0 1480 314 low out-of-frame . PDZ_domain(100%),PH_domain(67%)|Triple_QxxK/R_motif-containing_protein_family(100%) . . ENSG00000172164.15 ENSG00000205133.12 ENST00000395601.7 ENST00000518748.5 upstream downstream . GGGGAGAGCAAGAAACAGTGGAAACCAGCCCTGGTTGTGCTGACTGAGAAAGACCTTTTAATCTATGACAGCATGCCACGGAGGAAGGAAGCCTGGTTCAGCCCAGTTCACACATACCCTCTTCTTGCCACCAG|GCATTTTGGAGATCAAAGATGGGTAGAAAA GESKKQWKPALVVLTEKDLLIYDSMPRRKEAWFSPVHTYPLLATr|hfgdqrwve LH00995:48:23YTGFLT4:5:1277:48699:21598,LH00995:48:23YTGFLT4:7:2250:8427:10220
TRIM14 VAMP7 -/- +/+ chr9:98087442 chrX:155889458 3'UTR/splice-site 5'UTR/splice-site translocation 2 0 0 1836 755 low stop-codon . B-box_zinc_finger(100%),SPRY-associated_domain(100%),SPRY_domain(100%)| . . ENSG00000106785.15 ENSG00000124333.16 ENST00000375098.7 ENST00000286448.12 upstream upstream duplicates(1) GGGAGGGGGCCATCAGCATCCCCCGGCTGCCCTAGGGGCCAGGACCGGCGTGACAGCCTCCAG|ACTGAAGCCATGGCGATTCTTTTTGCTGTTGTTGCCAGGGG . LH00995:48:23YTGFLT4:4:1247:24364:4531,LH00995:48:23YTGFLT4:5:1276:7868:26208,LH00995:48:23YTGFLT4:6:2109:43278:1112
DOCK5 AKAP9 +/+ +/+ chr8:25278665 chr7:91973711 CDS/splice-site CDS/splice-site translocation 0 2 0 1110 12846 low in-frame . DOCK_N-terminus(9%),SH3_domain(100%)|Pericentrin-AKAP-450_domain_of_centrosomal_targeting_protein(100%) . . ENSG00000147459.18 ENSG00000127914.19 ENST00000276440.12 ENST00000680534.1 downstream upstream duplicates(4) GCAGGAGCTCACGTCCACTCTGCGAGAATGGGCTGTCATCTGGCGAAAGCTCTACGTG|CTTGCCCAGTTTCGACAAAGAAAAGCTCAGTCGGATGGGCAGAGTCCTTCCAAGAAGCAGAAAAAAAA QELTSTLREWAVIWRKLYV|LAQFRQRKAQSDGQSPSKKQKK LH00995:48:23YTGFLT4:1:1455:6509:17661,LH00995:48:23YTGFLT4:1:2471:33311:14003,LH00995:48:23YTGFLT4:2:2440:38788:27637,LH00995:48:23YTGFLT4:3:2279:28700:12938,LH00995:48:23YTGFLT4:5:1423:44961:2261,LH00995:48:23YTGFLT4:6:1321:12811:13191
ABCC1 LGALS3 +/+ +/+ chr16:16102717 chr14:55137370 CDS/splice-site 5'UTR/splice-site translocation 0 2 0 2480 4995 low in-frame . ABC_transporter(50%),ABC_transporter_transmembrane_region(50%)|Galactoside-binding_lectin(100%) . . ENSG00000103222.20 ENSG00000131981.16 ENST00000678422.1 ENST00000254301.14 downstream upstream . GGACAGTGCAGGGAAGCAACTGCAGAG|GAAAATGGCAGACAATTTTTCG___CTCCATGATGCGTTATCTGGGTCTGGAAACCCAAACCCTCAAGGATGGCCTGGCGCATGGGGGAACCAGCCTGCTGGGGCAGGGGGCTACCCAGGGGCTTCCTATCCTGGGGCCTACCCCGGGCAGGCACCCCCAGGGGCTTAT DSAGKQLQr|kMADNFSLHDALSGSGNPNPQGWPGAWGNQPAGAGGYPGASYPGAYPGQAPPGA LH00995:48:23YTGFLT4:5:1155:3872:10542,LH00995:48:23YTGFLT4:8:2138:14551:26376
FUT11 ZNF106 +/+ -/- chr10:73773815 chr15:42457158 CDS/splice-site CDS/splice-site translocation 0 2 0 1244 11164 low in-frame . Fucosyltransferase__N-terminal(100%),Glycosyltransferase_family_10_(fucosyltransferase)_C-term(100%)|WD_domain__G-beta_repeat(100%) . . ENSG00000196968.11 ENSG00000103994.18 ENST00000372841.8 ENST00000564754.7 downstream downstream duplicates(1) GGACTGCCCAGTGCCCACACCTGGCTTTGGCAATGTGGAAGAGATTCCTGAGAATGACAG|GGACATTAGTCATGAGTGCCGAGTGTGCGGGGTCACAGAAGTGGGTCTTTCTGCATATGCAAAGCACATTTCTGGCCAGTTGCACAAAGATAACGTTGATGCCCAGGAAAGAGAAGATGATGGAAAAGGAGA DCPVPTPGFGNVEEIPENDr|DISHECRVCGVTEVGLSAYAKHISGQLHKDNVDAQEREDDGKG LH00995:48:23YTGFLT4:1:1318:19380:26642,LH00995:48:23YTGFLT4:4:1311:41814:14690,LH00995:48:23YTGFLT4:7:2337:1040:14382
THRAP3 PUM1 +/+ -/- chr1:36224505 chr1:31028864 5'UTR/splice-site CDS/splice-site inversion 1 1 0 204 3650 low . . |Pumilio-family_RNA_binding_repeat(100%) . . ENSG00000054118.15 ENSG00000134644.16 ENST00000648638.1 ENST00000426105.7 downstream downstream duplicates(7) GGG?GG?GGCGAGGTTCGGGCTGGTTGTTCCGTTGCGAGCTGCAGCTGCGATCTCTGTGGTAGGCCCAG|GTGCGTTCCATGGATGAACTGAATCATGATTTTCAAGCACTTGCTCTGGAGGGAAGAGCGATGGGAGAG___CAGCTCTTGCCAGGTAAAAAGTTTTGGGAAACAGATGAATCCAGC . LH00995:48:23YTGFLT4:7:1493:32187:20239,LH00995:48:23YTGFLT4:7:1493:32203:20239,LH00995:48:23YTGFLT4:1:1305:37858:2373,LH00995:48:23YTGFLT4:3:2396:50608:21374,LH00995:48:23YTGFLT4:5:2326:40576:12602,LH00995:48:23YTGFLT4:7:2207:29064:7768,LH00995:48:23YTGFLT4:7:2422:45908:11803,LH00995:48:23YTGFLT4:8:2225:15060:4251,LH00995:48:23YTGFLT4:8:2465:30601:28086
PCED1B AC090114.3 +/+ +/+ chr12:47224039 chr7:128591850 5'UTR/splice-site exon/splice-site translocation 0 2 0 7 3647 low . . . . . ENSG00000179715.13 ENSG00000280828.1 ENST00000551777.1 ENST00000479267.2 downstream upstream duplicates(1) TGAAAGCCAGATCACCACCTTCTG|TGACGAGTAGCACAGCCCCTCTATGGTTTAGATGGCAGTGCTGCAAAGGAGGCAACAGAGGAGCAGTCTGCTCTGCCAATCCTCACGTCAGTGATGCTAGCAAAACCTCGGCTTGACACAGAGCAGCTGGC . LH00995:48:23YTGFLT4:2:1232:14090:22215,LH00995:48:23YTGFLT4:4:2392:17673:24134,LH00995:48:23YTGFLT4:7:2471:48885:23294
SDCCAG8 AKT3 +/+ -/- chr1:243256240 chr1:243664883 CDS/splice-site CDS/splice-site inversion 1 0 0 996 8126 low in-frame . Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000054282.16 ENSG00000117020.19 ENST00000366541.8 ENST00000336199.9 downstream downstream . GTGCGTGCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|AATGCCAGTTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCC MAKSPENSTLEEILGQYQRSLR|eCQLMKTERPKPNTFIIRCL LH00995:48:23YTGFLT4:2:1175:48440:24204
SDCCAG8 AKT3 +/+ -/- chr1:243378863 chr1:243843282 CDS/splice-site 5'UTR/splice-site inversion 1 0 0 716 1820 low out-of-frame . Centrosomal_colon_cancer_autoantigen_protein_family(76%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000054282.16 ENSG00000117020.19 ENST00000366541.8 ENST00000673466.1 downstream downstream . CTTGAAATTAAAGATCAG___GAAATAGAGAAATTGAGAATAGAACTGGATGAAAGCAAACAACACTTGGAACAGGAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCA LEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTr|lshh* LH00995:48:23YTGFLT4:8:2152:48246:3774
SDCCAG8 AKT3 +/+ -/- chr1:243426558 chr1:243843282 CDS/splice-site 5'UTR/splice-site inversion 0 1 0 447 1820 low out-of-frame . Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000054282.16 ENSG00000117020.19 ENST00000366541.8 ENST00000673466.1 downstream downstream duplicates(2) GGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGG GRVHETMKQr|lshh* LH00995:48:23YTGFLT4:2:2128:8880:15909,LH00995:48:23YTGFLT4:6:1185:16719:26488,LH00995:48:23YTGFLT4:7:1102:44532:26600
AKT3 SDCCAG8 -/- +/+ chr1:243843125 chr1:243499756 CDS/splice-site CDS/splice-site inversion 1 0 0 12689 2430 low out-of-frame . PH_domain(9%)|Centrosomal_colon_cancer_autoantigen_protein_family(0%) . . ENSG00000117020.19 ENSG00000054282.16 ENST00000673466.1 ENST00000366541.8 upstream upstream duplicates(3) GTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGG|TTACCCAGCATGCCACAATCTGATTGC MSDVTIVKEGWVQKR|vtqhati* LH00995:48:23YTGFLT4:1:1250:35488:20968,LH00995:48:23YTGFLT4:3:1449:9292:8048,LH00995:48:23YTGFLT4:3:2275:23005:1504,LH00995:48:23YTGFLT4:3:2275:23013:1518
SDCCAG8 AKT3 +/+ -/- chr1:243426558 chr1:243664883 CDS/splice-site CDS/splice-site inversion 0 1 0 447 8126 low out-of-frame . Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000054282.16 ENSG00000117020.19 ENST00000366541.8 ENST00000336199.9 downstream downstream . GGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|AATGCCAGTTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACTACTGTTATAGAGAGAACATTTCAT EQCVQHGRVHETMKQr|mpvnenrttkakhiynqmspvdycyrenis LH00995:48:23YTGFLT4:5:1440:48108:2555
SDCCAG8 AKT3 +/+ -/- chr1:243344331 chr1:243573048 CDS/splice-site CDS/splice-site inversion 0 1 0 311 6664 low in-frame . Centrosomal_colon_cancer_autoantigen_protein_family(69%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(67%) . . ENSG00000054282.16 ENSG00000117020.19 ENST00000366541.8 ENST00000336199.9 downstream downstream duplicates(2) GGAGAAGGATGAGGCAGAAAAGGAGCACAGAGAGTTCAGAGCAAAAACTAACAGGGATCTTGAAATTAAAGATCAG|CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGACTATCT EKDEAEKEHREFRAKTNRDLEIKDQ|LFFHLSRERVFSEDRTRFYGAEIVSALDY LH00995:48:23YTGFLT4:4:1408:8410:14087,LH00995:48:23YTGFLT4:5:1311:16096:23896,LH00995:48:23YTGFLT4:6:1254:50681:15363
SDCCAG8 AKT3 +/+ -/- chr1:243426558 chr1:243615161 CDS/splice-site CDS/splice-site inversion 0 1 0 447 7605 low out-of-frame . Centrosomal_colon_cancer_autoantigen_protein_family(93%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(85%) . . ENSG00000054282.16 ENSG00000117020.19 ENST00000366541.8 ENST00000336199.9 downstream downstream duplicates(4) GAGACGATGAAGCAAAG|GATGAAGTGGCACACACTCTAACTGAAAGCAGAGTATTAAAGAACACTAGACATCCCTTTTTAACA___TCCTTGAAATATTCCTTCCAGACAAAAGACCGTTTGTGTTTTGTGATG ETMKQr|mkwhtl* LH00995:48:23YTGFLT4:2:2337:36394:26769,LH00995:48:23YTGFLT4:7:1371:10166:5890,LH00995:48:23YTGFLT4:7:2448:49532:14326,LH00995:48:23YTGFLT4:8:1320:13329:29025,LH00995:48:23YTGFLT4:8:2149:34671:6941
AKT3 SDCCAG8 -/- +/+ chr1:243545510 chr1:243475931 CDS/splice-site exon/splice-site inversion 1 0 0 2989 11 low out-of-frame . PH_domain(100%),Protein_kinase_domain(100%)|Centrosomal_colon_cancer_autoantigen_protein_family(6%) . . ENSG00000117020.19 ENSG00000054282.16 ENST00000336199.9 ENST00000463042.1 upstream upstream duplicates(5) TTTCAGGGCTCTTGATAAAGGATCCAAATAAACG___CCTTGGTGGAGGACCAGATGATGCAAAAGAAATTATGAGACACAGTTTCTTCTCTGGAGTAAACTGGCAAGATGTATATGATAAAAAG|TGGCACACAACTGGGC SGLLIKDPNKRLGGGPDDAKEIMRHSFFSGVNWQDVYDKK|whttg LH00995:48:23YTGFLT4:2:2226:33756:3340,LH00995:48:23YTGFLT4:5:2284:39120:13191,LH00995:48:23YTGFLT4:5:2441:21613:9183,LH00995:48:23YTGFLT4:7:1247:4641:12070,LH00995:48:23YTGFLT4:8:2407:9535:15166,LH00995:48:23YTGFLT4:8:2407:9543:15152
LINC00486 ARHGEF1 +/+ +/+ chr2:32916475 chr19:41902785 intron CDS/splice-site translocation 0 0 0 65535 4111 low . . |PH_domain(100%),RhoGEF_domain(33%) . . ENSG00000230876.8 ENSG00000076928.18 . ENST00000599589.5 downstream upstream inconsistently_clipped(1) GGGGGGGGGGGGGGGGGGGGGGAGG|AAGCTGAGAGCCGCCCGCGGTGCCGCCGCCTGCAGCTGAAGGACATGATCCCCACGGAGATGCAGCGGCTGACCAAGTACCCCCTGCTCCTGCAGAGCATCGGGCAGAACACAG___AAGAGCCCACAGAACGG . LH00995:48:23YTGFLT4:8:2395:42397:16035
174 rows