#FusionName JunctionReadCount SpanningFragCount est_J est_S SpliceType LeftGene LeftBreakpoint RightGene RightBreakpoint JunctionReads SpanningFrags LargeAnchorSupport FFPM LeftBreakDinuc LeftBreakEntropy RightBreakDinuc RightBreakEntropy annots breakpoint_ID blacklisted blacklist_reasons aih_curated_reason CALL filter_reason FILTER total_reads HLA-C--MUC16 167 0 166.92 0.0 INCL_NON_REF_SPLICE HLA-C^ENSG00000204525.17 chr6:31269489:- MUC16^ENSG00000181143.15 chr19:8848985:- LH00995:25:23T55JLT4:2:1102:37761:7530,LH00995:25:23T55JLT4:2:1106:50236:5064,LH00995:25:23T55JLT4:2:1113:28797:25185,LH00995:25:23T55JLT4:2:1129:21039:10066,LH00995:25:23T55JLT4:2:1130:24210:18417,LH00995:25:23T55JLT4:2:1132:9430:29277,LH00995:25:23T55JLT4:2:1133:37826:18992,LH00995:25:23T55JLT4:2:1142:3896:15909,LH00995:25:23T55JLT4:2:1148:50907:29095,LH00995:25:23T55JLT4:2:1154:47453:4951,LH00995:25:23T55JLT4:5:1102:13806:22145,LH00995:25:23T55JLT4:5:1107:21007:18333,LH00995:25:23T55JLT4:5:1109:25399:11986,LH00995:25:23T55JLT4:5:1109:7537:20645,LH00995:25:23T55JLT4:5:1114:16331:24218,LH00995:25:23T55JLT4:5:1117:30302:8062,LH00995:25:23T55JLT4:5:1120:44290:12112,LH00995:25:23T55JLT4:5:1123:50956:17605,LH00995:25:23T55JLT4:5:1126:12294:6745,LH00995:25:23T55JLT4:5:1135:47930:12784,LH00995:25:23T55JLT4:5:1147:33821:1098,LH00995:25:23T55JLT4:5:1155:49467:19174,LH00995:25:23T55JLT4:5:1160:20545:9604,LH00995:25:23T55JLT4:5:1160:24032:21444,LH00995:25:23T55JLT4:5:1170:13281:12238,LH00995:25:23T55JLT4:5:1172:25141:8875,LH00995:25:23T55JLT4:5:1180:1307:14256,LH00995:25:23T55JLT4:5:1191:48958:2149,LH00995:25:23T55JLT4:5:1194:23417:13569,LH00995:25:23T55JLT4:5:1214:18256:20295,LH00995:25:23T55JLT4:5:1220:35755:25353,LH00995:25:23T55JLT4:5:1220:40002:5498,LH00995:25:23T55JLT4:5:1233:14899:21990,LH00995:25:23T55JLT4:5:1237:47509:17829,LH00995:25:23T55JLT4:5:1248:34533:9646,LH00995:25:23T55JLT4:5:1248:48860:3130,LH00995:25:23T55JLT4:5:1251:41175:27315,LH00995:25:23T55JLT4:5:1253:30019:12448,LH00995:25:23T55JLT4:5:1263:40884:18487,LH00995:25:23T55JLT4:5:1270:16007:23574,LH00995:25:23T55JLT4:5:1275:37259:16161,LH00995:25:23T55JLT4:5:1276:8087:8062,LH00995:25:23T55JLT4:5:1282:27657:9562,LH00995:25:23T55JLT4:5:1288:10983:7053,LH00995:25:23T55JLT4:5:1293:26945:20659,LH00995:25:23T55JLT4:5:1296:34622:29305,LH00995:25:23T55JLT4:5:1319:1469:15321,LH00995:25:23T55JLT4:5:1319:18855:12812,LH00995:25:23T55JLT4:5:1322:30003:25283,LH00995:25:23T55JLT4:5:1324:39355:4741,LH00995:25:23T55JLT4:5:1339:10101:23462,LH00995:25:23T55JLT4:5:1339:45705:12602,LH00995:25:23T55JLT4:5:1350:16088:10935,LH00995:25:23T55JLT4:5:1352:30957:14242,LH00995:25:23T55JLT4:5:1358:13572:18824,LH00995:25:23T55JLT4:5:1359:10748:20855,LH00995:25:23T55JLT4:5:1378:40876:5162,LH00995:25:23T55JLT4:5:1391:15950:19440,LH00995:25:23T55JLT4:5:1411:34452:23294,LH00995:25:23T55JLT4:5:1423:3249:19412,LH00995:25:23T55JLT4:5:1427:43667:12434,LH00995:25:23T55JLT4:5:1428:44435:13485,LH00995:25:23T55JLT4:5:1438:6234:17661,LH00995:25:23T55JLT4:5:1451:49289:17408,LH00995:25:23T55JLT4:5:1457:23563:16680,LH00995:25:23T55JLT4:5:1463:10918:5204,LH00995:25:23T55JLT4:5:1483:5085:7796,LH00995:25:23T55JLT4:5:2118:28652:14256,LH00995:25:23T55JLT4:5:2119:3751:19272,LH00995:25:23T55JLT4:5:2124:4851:23167,LH00995:25:23T55JLT4:5:2128:24040:10753,LH00995:25:23T55JLT4:5:2145:10643:19776,LH00995:25:23T55JLT4:5:2174:12819:4153,LH00995:25:23T55JLT4:5:2175:13329:4559,LH00995:25:23T55JLT4:5:2193:26807:28969,LH00995:25:23T55JLT4:5:2196:50438:16315,LH00995:25:23T55JLT4:5:2197:16209:2709,LH00995:25:23T55JLT4:5:2211:25521:25367,LH00995:25:23T55JLT4:5:2224:45592:9295,LH00995:25:23T55JLT4:5:2234:37211:18207,LH00995:25:23T55JLT4:5:2251:14793:9281,LH00995:25:23T55JLT4:5:2252:17657:9197,LH00995:25:23T55JLT4:5:2283:12059:11635,LH00995:25:23T55JLT4:5:2298:39217:22271,LH00995:25:23T55JLT4:5:2330:41927:9141,LH00995:25:23T55JLT4:5:2349:24752:4475,LH00995:25:23T55JLT4:5:2376:28247:29333,LH00995:25:23T55JLT4:5:2387:4980:14200,LH00995:25:23T55JLT4:5:2388:12900:11131,LH00995:25:23T55JLT4:5:2404:25035:12784,LH00995:25:23T55JLT4:5:2409:25464:7698,LH00995:25:23T55JLT4:5:2448:48634:12938,LH00995:25:23T55JLT4:5:2471:46806:18740,LH00995:25:23T55JLT4:5:2479:35035:3312,LH00995:25:23T55JLT4:5:2481:3476:15853,LH00995:25:23T55JLT4:5:2492:24979:24260,LH00995:25:23T55JLT4:6:1104:9122:4055,LH00995:25:23T55JLT4:6:1118:13653:12574,LH00995:25:23T55JLT4:6:1152:41596:7670,LH00995:25:23T55JLT4:6:1186:41539:26741,LH00995:25:23T55JLT4:6:1188:9883:22243,LH00995:25:23T55JLT4:6:1193:37769:15755,LH00995:25:23T55JLT4:6:1194:35205:3606,LH00995:25:23T55JLT4:6:1211:31515:26502,LH00995:25:23T55JLT4:6:1227:24542:25858,LH00995:25:23T55JLT4:6:1229:14866:28408,LH00995:25:23T55JLT4:6:1230:43189:25507,LH00995:25:23T55JLT4:6:1232:8653:19468,LH00995:25:23T55JLT4:6:1237:51546:29249,LH00995:25:23T55JLT4:6:1259:19372:24667,LH00995:25:23T55JLT4:6:1283:45722:9323,LH00995:25:23T55JLT4:6:1313:31071:27553,LH00995:25:23T55JLT4:6:1316:16225:22691,LH00995:25:23T55JLT4:6:1323:3831:9211,LH00995:25:23T55JLT4:6:1323:44201:13583,LH00995:25:23T55JLT4:6:1424:41499:21262,LH00995:25:23T55JLT4:6:1426:44678:21080,LH00995:25:23T55JLT4:6:1435:28635:26867,LH00995:25:23T55JLT4:6:1441:14777:21920,LH00995:25:23T55JLT4:6:1467:31257:12322,LH00995:25:23T55JLT4:6:1469:25262:24751,LH00995:25:23T55JLT4:6:1474:21071:4321,LH00995:25:23T55JLT4:6:2105:31354:1224,LH00995:25:23T55JLT4:6:2108:22163:24513,LH00995:25:23T55JLT4:6:2148:35925:4825,LH00995:25:23T55JLT4:6:2160:49669:27315,LH00995:25:23T55JLT4:6:2171:51951:8286,LH00995:25:23T55JLT4:6:2188:9794:15475,LH00995:25:23T55JLT4:6:2210:5296:10206,LH00995:25:23T55JLT4:6:2242:6420:14116,LH00995:25:23T55JLT4:6:2243:29930:11846,LH00995:25:23T55JLT4:6:2256:1202:8216,LH00995:25:23T55JLT4:6:2260:32147:13639,LH00995:25:23T55JLT4:6:2329:18741:2303,LH00995:25:23T55JLT4:6:2380:28522:26278,LH00995:25:23T55JLT4:6:2411:21581:16189,LH00995:25:23T55JLT4:6:2424:41992:12196,LH00995:25:23T55JLT4:6:2428:40892:18529,LH00995:25:23T55JLT4:6:2447:19283:19440,LH00995:25:23T55JLT4:6:2453:26370:18459,LH00995:25:23T55JLT4:6:2462:13394:10024,LH00995:25:23T55JLT4:6:2496:9681:8272,LH00995:25:23T55JLT4:8:1183:5021:18193,LH00995:25:23T55JLT4:8:1222:44451:20855,LH00995:25:23T55JLT4:8:1229:3265:10612,LH00995:25:23T55JLT4:8:1231:12561:25087,LH00995:25:23T55JLT4:8:1277:1849:3088,LH00995:25:23T55JLT4:8:1305:12310:21598,LH00995:25:23T55JLT4:8:1353:32211:27539,LH00995:25:23T55JLT4:8:1425:18571:17927,LH00995:25:23T55JLT4:8:1428:22544:11747,LH00995:25:23T55JLT4:8:1480:32308:16498,LH00995:25:23T55JLT4:8:1483:48796:20982,LH00995:25:23T55JLT4:8:2118:33182:13975,LH00995:25:23T55JLT4:8:2130:43934:20799,LH00995:25:23T55JLT4:8:2196:33368:29011,LH00995:25:23T55JLT4:8:2213:49694:4909,LH00995:25:23T55JLT4:8:2232:6914:21248,LH00995:25:23T55JLT4:8:2263:10514:14144,LH00995:25:23T55JLT4:8:2263:29800:13639,LH00995:25:23T55JLT4:8:2279:31637:26769,LH00995:25:23T55JLT4:8:2304:41790:3634,LH00995:25:23T55JLT4:8:2332:19979:17170,LH00995:25:23T55JLT4:8:2379:9276:5330,LH00995:25:23T55JLT4:8:2382:47194:25606,LH00995:25:23T55JLT4:8:2441:16784:10010,LH00995:25:23T55JLT4:8:2492:25755:13135 . NO_LDAS 0.5665 GT 1.9656 AG 1.8062 "[""GTEx_recurrent_StarF2019"",""INTERCHROMOSOMAL[chr6--chr19]""]" chr6:31269489-chr19:8848985 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 167 HLA-C--NUMA1 124 0 123.95 0.0 INCL_NON_REF_SPLICE HLA-C^ENSG00000204525.17 chr6:31269493:- NUMA1^ENSG00000137497.18 chr11:72013673:- LH00995:25:23T55JLT4:2:1117:30820:24373,LH00995:25:23T55JLT4:2:1119:23037:26054,LH00995:25:23T55JLT4:2:1125:33409:8959,LH00995:25:23T55JLT4:2:1136:5174:12714,LH00995:25:23T55JLT4:2:1136:5417:29697,LH00995:25:23T55JLT4:2:1144:5352:14676,LH00995:25:23T55JLT4:2:1156:19955:13653,LH00995:25:23T55JLT4:2:1156:47267:7964,LH00995:25:23T55JLT4:2:1159:10692:21010,LH00995:25:23T55JLT4:5:1101:15958:27749,LH00995:25:23T55JLT4:5:1105:35601:16035,LH00995:25:23T55JLT4:5:1135:16088:7039,LH00995:25:23T55JLT4:5:1135:44597:18894,LH00995:25:23T55JLT4:5:1137:25747:5722,LH00995:25:23T55JLT4:5:1152:19761:12336,LH00995:25:23T55JLT4:5:1165:46142:12854,LH00995:25:23T55JLT4:5:1166:6728:22159,LH00995:25:23T55JLT4:5:1171:6614:24765,LH00995:25:23T55JLT4:5:1182:32333:13737,LH00995:25:23T55JLT4:5:1192:51142:16021,LH00995:25:23T55JLT4:5:1209:2464:9449,LH00995:25:23T55JLT4:5:1218:42324:21794,LH00995:25:23T55JLT4:5:1225:7270:12812,LH00995:25:23T55JLT4:5:1237:22220:13849,LH00995:25:23T55JLT4:5:1247:16128:24373,LH00995:25:23T55JLT4:5:1257:39872:26096,LH00995:25:23T55JLT4:5:1260:16889:14144,LH00995:25:23T55JLT4:5:1261:7561:12560,LH00995:25:23T55JLT4:5:1277:16776:3746,LH00995:25:23T55JLT4:5:1289:27915:7292,LH00995:25:23T55JLT4:5:1290:39209:11159,LH00995:25:23T55JLT4:5:1301:46409:24723,LH00995:25:23T55JLT4:5:1316:19138:26923,LH00995:25:23T55JLT4:5:1323:7181:28436,LH00995:25:23T55JLT4:5:1337:39978:21010,LH00995:25:23T55JLT4:5:1339:36903:3158,LH00995:25:23T55JLT4:5:1348:31515:13695,LH00995:25:23T55JLT4:5:1411:21872:13275,LH00995:25:23T55JLT4:5:1415:8920:27525,LH00995:25:23T55JLT4:5:1433:12415:15531,LH00995:25:23T55JLT4:5:1433:4956:13625,LH00995:25:23T55JLT4:5:1443:27082:28997,LH00995:25:23T55JLT4:5:1451:1582:1729,LH00995:25:23T55JLT4:5:1471:25035:16960,LH00995:25:23T55JLT4:5:1473:27746:22159,LH00995:25:23T55JLT4:5:1479:48424:13835,LH00995:25:23T55JLT4:5:1492:6873:15124,LH00995:25:23T55JLT4:5:2124:36135:15475,LH00995:25:23T55JLT4:5:2131:27770:2920,LH00995:25:23T55JLT4:5:2132:27284:23013,LH00995:25:23T55JLT4:5:2144:13782:19524,LH00995:25:23T55JLT4:5:2148:17196:9463,LH00995:25:23T55JLT4:5:2176:48731:25662,LH00995:25:23T55JLT4:5:2181:21427:6843,LH00995:25:23T55JLT4:5:2183:38869:20043,LH00995:25:23T55JLT4:5:2212:1542:26544,LH00995:25:23T55JLT4:5:2225:37089:7908,LH00995:25:23T55JLT4:5:2243:6623:26544,LH00995:25:23T55JLT4:5:2271:14373:17436,LH00995:25:23T55JLT4:5:2272:21856:14087,LH00995:25:23T55JLT4:5:2284:37065:10837,LH00995:25:23T55JLT4:5:2290:26265:24415,LH00995:25:23T55JLT4:5:2290:45754:20449,LH00995:25:23T55JLT4:5:2292:28506:19272,LH00995:25:23T55JLT4:5:2305:35205:7193,LH00995:25:23T55JLT4:5:2307:34007:23223,LH00995:25:23T55JLT4:5:2309:16347:15419,LH00995:25:23T55JLT4:5:2348:8597:26825,LH00995:25:23T55JLT4:5:2351:20877:8469,LH00995:25:23T55JLT4:5:2410:23434:8216,LH00995:25:23T55JLT4:5:2424:18232:2289,LH00995:25:23T55JLT4:5:2429:3904:8861,LH00995:25:23T55JLT4:5:2431:31524:4881,LH00995:25:23T55JLT4:5:2437:13904:23770,LH00995:25:23T55JLT4:5:2481:15222:24260,LH00995:25:23T55JLT4:5:2482:10360:1182,LH00995:25:23T55JLT4:6:1111:26621:2275,LH00995:25:23T55JLT4:6:1115:47623:6927,LH00995:25:23T55JLT4:6:1117:12188:11411,LH00995:25:23T55JLT4:6:1120:7545:8272,LH00995:25:23T55JLT4:6:1129:17649:4475,LH00995:25:23T55JLT4:6:1134:25755:28969,LH00995:25:23T55JLT4:6:1148:4285:21598,LH00995:25:23T55JLT4:6:1163:5029:10024,LH00995:25:23T55JLT4:6:1166:42388:9043,LH00995:25:23T55JLT4:6:1173:6590:16035,LH00995:25:23T55JLT4:6:1196:22091:20659,LH00995:25:23T55JLT4:6:1275:22204:17296,LH00995:25:23T55JLT4:6:1320:16767:4433,LH00995:25:23T55JLT4:6:1324:38521:26839,LH00995:25:23T55JLT4:6:1330:19664:8384,LH00995:25:23T55JLT4:6:1342:12908:5372,LH00995:25:23T55JLT4:6:1377:44896:27511,LH00995:25:23T55JLT4:6:1379:27357:23532,LH00995:25:23T55JLT4:6:1379:41240:23728,LH00995:25:23T55JLT4:6:1436:8936:18389,LH00995:25:23T55JLT4:6:2123:30067:8889,LH00995:25:23T55JLT4:6:2136:29210:29711,LH00995:25:23T55JLT4:6:2190:46150:26628,LH00995:25:23T55JLT4:6:2203:22252:23378,LH00995:25:23T55JLT4:6:2204:6129:28688,LH00995:25:23T55JLT4:6:2279:11679:23924,LH00995:25:23T55JLT4:6:2281:10676:2990,LH00995:25:23T55JLT4:6:2312:21767:9898,LH00995:25:23T55JLT4:6:2315:31718:17745,LH00995:25:23T55JLT4:6:2338:25302:21374,LH00995:25:23T55JLT4:6:2354:41668:10430,LH00995:25:23T55JLT4:6:2404:14292:25031,LH00995:25:23T55JLT4:6:2475:38918:11635,LH00995:25:23T55JLT4:8:1184:48585:16414,LH00995:25:23T55JLT4:8:1240:47348:12700,LH00995:25:23T55JLT4:8:1282:13531:22369,LH00995:25:23T55JLT4:8:1284:14276:19566,LH00995:25:23T55JLT4:8:1284:27996:11131,LH00995:25:23T55JLT4:8:1357:39816:7978,LH00995:25:23T55JLT4:8:1393:18968:24891,LH00995:25:23T55JLT4:8:1438:10481:29529,LH00995:25:23T55JLT4:8:1451:34501:1322,LH00995:25:23T55JLT4:8:1467:6736:12728,LH00995:25:23T55JLT4:8:2169:44904:21304,LH00995:25:23T55JLT4:8:2217:34379:2738,LH00995:25:23T55JLT4:8:2263:32778:8903,LH00995:25:23T55JLT4:8:2297:30003:23406,LH00995:25:23T55JLT4:8:2417:27535:4391 . NO_LDAS 0.4207 GT 1.8256 AG 1.7819 "[""INTERCHROMOSOMAL[chr6--chr11]""]" chr6:31269493-chr11:72013673 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 124 HLA-A--C12orf40 122 0 122.0 0.0 INCL_NON_REF_SPLICE HLA-A^ENSG00000206503.13 chr6:29942951:+ C12orf40^ENSG00000180116.15 chr12:39716794:+ LH00995:25:23T55JLT4:2:1103:46660:5232,LH00995:25:23T55JLT4:2:1125:51951:8483,LH00995:25:23T55JLT4:2:1127:25399:18880,LH00995:25:23T55JLT4:2:1134:9980:15405,LH00995:25:23T55JLT4:2:1143:7512:5638,LH00995:25:23T55JLT4:2:1145:33133:25914,LH00995:25:23T55JLT4:2:1148:1307:14424,LH00995:25:23T55JLT4:2:1149:41935:23644,LH00995:25:23T55JLT4:2:1157:30698:29263,LH00995:25:23T55JLT4:2:1163:25310:16456,LH00995:25:23T55JLT4:2:1164:41749:2079,LH00995:25:23T55JLT4:5:1107:43286:17436,LH00995:25:23T55JLT4:5:1113:20270:29109,LH00995:25:23T55JLT4:5:1143:39314:25690,LH00995:25:23T55JLT4:5:1145:49281:21906,LH00995:25:23T55JLT4:5:1154:25674:15349,LH00995:25:23T55JLT4:5:1161:36766:20968,LH00995:25:23T55JLT4:5:1198:34452:12056,LH00995:25:23T55JLT4:5:1213:1089:10570,LH00995:25:23T55JLT4:5:1225:36491:21808,LH00995:25:23T55JLT4:5:1258:6979:12168,LH00995:25:23T55JLT4:5:1259:34444:25634,LH00995:25:23T55JLT4:5:1264:42736:8553,LH00995:25:23T55JLT4:5:1273:2683:4951,LH00995:25:23T55JLT4:5:1295:29525:25185,LH00995:25:23T55JLT4:5:1303:24542:11257,LH00995:25:23T55JLT4:5:1310:30124:3270,LH00995:25:23T55JLT4:5:1315:40916:4447,LH00995:25:23T55JLT4:5:1320:5708:24737,LH00995:25:23T55JLT4:5:1326:27818:28870,LH00995:25:23T55JLT4:5:1353:34436:21472,LH00995:25:23T55JLT4:5:1355:47882:13345,LH00995:25:23T55JLT4:5:1373:43133:1925,LH00995:25:23T55JLT4:5:1381:3192:9029,LH00995:25:23T55JLT4:5:1381:40576:1841,LH00995:25:23T55JLT4:5:1398:1170:13513,LH00995:25:23T55JLT4:5:1416:13256:19118,LH00995:25:23T55JLT4:5:1423:39905:21108,LH00995:25:23T55JLT4:5:1426:45058:11958,LH00995:25:23T55JLT4:5:1448:36636:25844,LH00995:25:23T55JLT4:5:1464:14187:16918,LH00995:25:23T55JLT4:5:1465:20198:17296,LH00995:25:23T55JLT4:5:1468:9907:3760,LH00995:25:23T55JLT4:5:2111:44201:11117,LH00995:25:23T55JLT4:5:2152:14049:10206,LH00995:25:23T55JLT4:5:2170:51732:18473,LH00995:25:23T55JLT4:5:2176:27155:15279,LH00995:25:23T55JLT4:5:2185:19583:16119,LH00995:25:23T55JLT4:5:2236:11307:17282,LH00995:25:23T55JLT4:5:2248:6784:15839,LH00995:25:23T55JLT4:5:2266:8694:17044,LH00995:25:23T55JLT4:5:2295:39411:3915,LH00995:25:23T55JLT4:5:2304:17722:1294,LH00995:25:23T55JLT4:5:2319:44273:17801,LH00995:25:23T55JLT4:5:2367:10037:22088,LH00995:25:23T55JLT4:5:2369:24663:28926,LH00995:25:23T55JLT4:5:2373:40843:1350,LH00995:25:23T55JLT4:5:2447:7618:28324,LH00995:25:23T55JLT4:5:2466:26605:20015,LH00995:25:23T55JLT4:5:2476:21710:7193,LH00995:25:23T55JLT4:6:1101:40787:19580,LH00995:25:23T55JLT4:6:1140:49767:11313,LH00995:25:23T55JLT4:6:1161:21249:7207,LH00995:25:23T55JLT4:6:1164:36070:22453,LH00995:25:23T55JLT4:6:1170:11970:8230,LH00995:25:23T55JLT4:6:1190:44759:2387,LH00995:25:23T55JLT4:6:1223:43238:11719,LH00995:25:23T55JLT4:6:1259:43359:25269,LH00995:25:23T55JLT4:6:1260:40803:15293,LH00995:25:23T55JLT4:6:1291:13014:21360,LH00995:25:23T55JLT4:6:1326:20335:2177,LH00995:25:23T55JLT4:6:1332:49386:9393,LH00995:25:23T55JLT4:6:1343:25545:9547,LH00995:25:23T55JLT4:6:1346:12083:23139,LH00995:25:23T55JLT4:6:1384:36564:12126,LH00995:25:23T55JLT4:6:1446:14575:18291,LH00995:25:23T55JLT4:6:1464:42599:12098,LH00995:25:23T55JLT4:6:1476:13014:7011,LH00995:25:23T55JLT4:6:1498:49241:11439,LH00995:25:23T55JLT4:6:2103:14130:8665,LH00995:25:23T55JLT4:6:2114:27503:25914,LH00995:25:23T55JLT4:6:2122:30626:24344,LH00995:25:23T55JLT4:6:2124:38667:2093,LH00995:25:23T55JLT4:6:2210:42049:29277,LH00995:25:23T55JLT4:6:2238:18442:14592,LH00995:25:23T55JLT4:6:2275:36814:16063,LH00995:25:23T55JLT4:6:2325:42785:18249,LH00995:25:23T55JLT4:6:2348:13224:4041,LH00995:25:23T55JLT4:6:2353:34978:25662,LH00995:25:23T55JLT4:6:2385:28004:17310,LH00995:25:23T55JLT4:6:2392:39516:20295,LH00995:25:23T55JLT4:6:2406:8952:13177,LH00995:25:23T55JLT4:6:2421:16500:13919,LH00995:25:23T55JLT4:6:2488:15093:24989,LH00995:25:23T55JLT4:6:2488:15327:24639,LH00995:25:23T55JLT4:8:1103:12666:19384,LH00995:25:23T55JLT4:8:1189:17609:12476,LH00995:25:23T55JLT4:8:1193:22414:12224,LH00995:25:23T55JLT4:8:1195:45535:29263,LH00995:25:23T55JLT4:8:1198:30205:3158,LH00995:25:23T55JLT4:8:1202:41774:11313,LH00995:25:23T55JLT4:8:1228:20400:10388,LH00995:25:23T55JLT4:8:1241:6849:16119,LH00995:25:23T55JLT4:8:1269:32875:23756,LH00995:25:23T55JLT4:8:1275:17787:7740,LH00995:25:23T55JLT4:8:1326:37421:22719,LH00995:25:23T55JLT4:8:1344:10077:14284,LH00995:25:23T55JLT4:8:1347:35269:28772,LH00995:25:23T55JLT4:8:1384:30391:29319,LH00995:25:23T55JLT4:8:1466:2513:17296,LH00995:25:23T55JLT4:8:1475:14963:22635,LH00995:25:23T55JLT4:8:1496:40827:25143,LH00995:25:23T55JLT4:8:2120:27341:5204,LH00995:25:23T55JLT4:8:2121:20675:23840,LH00995:25:23T55JLT4:8:2157:9899:3158,LH00995:25:23T55JLT4:8:2255:29906:22817,LH00995:25:23T55JLT4:8:2259:24550:19230,LH00995:25:23T55JLT4:8:2271:44492:25297,LH00995:25:23T55JLT4:8:2330:16209:14059,LH00995:25:23T55JLT4:8:2411:26775:12238,LH00995:25:23T55JLT4:8:2476:6064:9800,LH00995:25:23T55JLT4:8:2486:3200:17506 . NO_LDAS 0.4141 AT 1.5656 AC 1.7056 "[""INTERCHROMOSOMAL[chr6--chr12]""]" chr6:29942951-chr12:39716794 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 122 LEPROT--LEPR 117 1 117.0 1.0 ONLY_REF_SPLICE LEPROT^ENSG00000213625.9 chr1:65425378:+ LEPR^ENSG00000116678.20 chr1:65565546:+ LH00995:25:23T55JLT4:2:1108:36240:7698,LH00995:25:23T55JLT4:2:1127:43990:17394,LH00995:25:23T55JLT4:2:1157:24574:4867,LH00995:25:23T55JLT4:5:1102:21411:23266,LH00995:25:23T55JLT4:5:1104:48747:26642,LH00995:25:23T55JLT4:5:1122:14001:15138,LH00995:25:23T55JLT4:5:1129:20772:12854,LH00995:25:23T55JLT4:5:1159:13588:17450,LH00995:25:23T55JLT4:5:1170:36313:14550,LH00995:25:23T55JLT4:5:1212:30739:17338,LH00995:25:23T55JLT4:5:1220:48310:21010,LH00995:25:23T55JLT4:5:1248:19364:2121,LH00995:25:23T55JLT4:5:1254:17973:23027,LH00995:25:23T55JLT4:5:1273:26427:6479,LH00995:25:23T55JLT4:5:1289:37737:28870,LH00995:25:23T55JLT4:5:1297:18717:25718,LH00995:25:23T55JLT4:5:1320:46377:16876,LH00995:25:23T55JLT4:5:1340:16500:10725,LH00995:25:23T55JLT4:5:1361:31604:26376,LH00995:25:23T55JLT4:5:1385:1453:16582,LH00995:25:23T55JLT4:5:1385:23571:23055,LH00995:25:23T55JLT4:5:1408:47493:9141,LH00995:25:23T55JLT4:5:1438:22341:12406,LH00995:25:23T55JLT4:5:1439:46611:3214,LH00995:25:23T55JLT4:5:1444:8143:6086,LH00995:25:23T55JLT4:5:1468:16840:23364,LH00995:25:23T55JLT4:5:2142:8766:12154,LH00995:25:23T55JLT4:5:2153:5919:5540,LH00995:25:23T55JLT4:5:2165:2327:1617,LH00995:25:23T55JLT4:5:2189:11905:6997,LH00995:25:23T55JLT4:5:2193:33481:4265,LH00995:25:23T55JLT4:5:2205:38999:4461,LH00995:25:23T55JLT4:5:2256:49985:20547,LH00995:25:23T55JLT4:5:2273:36895:20099,LH00995:25:23T55JLT4:5:2310:15513:3550,LH00995:25:23T55JLT4:5:2363:15303:25269,LH00995:25:23T55JLT4:5:2376:11307:9519,LH00995:25:23T55JLT4:5:2384:30035:10654,LH00995:25:23T55JLT4:5:2411:15530:9968,LH00995:25:23T55JLT4:5:2443:50131:7039,LH00995:25:23T55JLT4:5:2466:50818:11677,LH00995:25:23T55JLT4:5:2470:4471:27273,LH00995:25:23T55JLT4:5:2474:16695:12854,LH00995:25:23T55JLT4:6:1103:22633:28408,LH00995:25:23T55JLT4:6:1119:23264:15937,LH00995:25:23T55JLT4:6:1143:36450:22215,LH00995:25:23T55JLT4:6:1144:50414:28352,LH00995:25:23T55JLT4:6:1153:33036:9351,LH00995:25:23T55JLT4:6:1161:42073:17549,LH00995:25:23T55JLT4:6:1178:1898:3060,LH00995:25:23T55JLT4:6:1181:13451:19174,LH00995:25:23T55JLT4:6:1184:42154:13485,LH00995:25:23T55JLT4:6:1185:7318:27749,LH00995:25:23T55JLT4:6:1186:14454:5946,LH00995:25:23T55JLT4:6:1198:18571:17254,LH00995:25:23T55JLT4:6:1214:16678:8595,LH00995:25:23T55JLT4:6:1227:25391:19510,LH00995:25:23T55JLT4:6:1227:25424:19510,LH00995:25:23T55JLT4:6:1267:15578:21486,LH00995:25:23T55JLT4:6:1268:6736:28702,LH00995:25:23T55JLT4:6:1290:48553:24429,LH00995:25:23T55JLT4:6:1294:21840:4671,LH00995:25:23T55JLT4:6:1331:48642:24751,LH00995:25:23T55JLT4:6:1341:47930:8216,LH00995:25:23T55JLT4:6:1403:29808:17885,LH00995:25:23T55JLT4:6:1407:35237:23560,LH00995:25:23T55JLT4:6:1463:32211:12770,LH00995:25:23T55JLT4:6:1464:50584:16904,LH00995:25:23T55JLT4:6:1474:31710:4811,LH00995:25:23T55JLT4:6:1484:15246:19734,LH00995:25:23T55JLT4:6:1485:22422:14172,LH00995:25:23T55JLT4:6:1490:44435:12392,LH00995:25:23T55JLT4:6:1492:43764:12966,LH00995:25:23T55JLT4:6:2137:21775:21038,LH00995:25:23T55JLT4:6:2161:21112:16105,LH00995:25:23T55JLT4:6:2173:23798:9604,LH00995:25:23T55JLT4:6:2210:10684:25339,LH00995:25:23T55JLT4:6:2234:39468:9982,LH00995:25:23T55JLT4:6:2284:36871:3606,LH00995:25:23T55JLT4:6:2368:2691:1406,LH00995:25:23T55JLT4:6:2420:43521:22215,LH00995:25:23T55JLT4:6:2445:42955:13863,LH00995:25:23T55JLT4:6:2466:19372:14914,LH00995:25:23T55JLT4:8:1122:22228:12574,LH00995:25:23T55JLT4:8:1125:1283:13933,LH00995:25:23T55JLT4:8:1175:37284:23209,LH00995:25:23T55JLT4:8:1186:10190:19552,LH00995:25:23T55JLT4:8:1187:15967:28912,LH00995:25:23T55JLT4:8:1192:44281:5708,LH00995:25:23T55JLT4:8:1196:11379:23938,LH00995:25:23T55JLT4:8:1218:20634:21612,LH00995:25:23T55JLT4:8:1219:41620:25423,LH00995:25:23T55JLT4:8:1232:38392:26362,LH00995:25:23T55JLT4:8:1243:32664:12854,LH00995:25:23T55JLT4:8:1251:3783:12995,LH00995:25:23T55JLT4:8:1267:9875:8356,LH00995:25:23T55JLT4:8:1276:34606:17002,LH00995:25:23T55JLT4:8:1278:18135:17058,LH00995:25:23T55JLT4:8:1323:18175:4097,LH00995:25:23T55JLT4:8:1331:8799:1504,LH00995:25:23T55JLT4:8:1368:37235:21472,LH00995:25:23T55JLT4:8:1382:13507:22159,LH00995:25:23T55JLT4:8:1426:20651:22957,LH00995:25:23T55JLT4:8:1455:33692:6647,LH00995:25:23T55JLT4:8:1457:44807:10290,LH00995:25:23T55JLT4:8:1470:10077:8258,LH00995:25:23T55JLT4:8:1482:10028:11817,LH00995:25:23T55JLT4:8:2129:8030:16091,LH00995:25:23T55JLT4:8:2185:24396:29249,LH00995:25:23T55JLT4:8:2190:52194:27231,LH00995:25:23T55JLT4:8:2206:12383:2079,LH00995:25:23T55JLT4:8:2277:32850:25620,LH00995:25:23T55JLT4:8:2277:40107:18543,LH00995:25:23T55JLT4:8:2287:19882:15461,LH00995:25:23T55JLT4:8:2375:7140:4097,LH00995:25:23T55JLT4:8:2415:50697:8441,LH00995:25:23T55JLT4:8:2422:19445:7278 LH00995:25:23T55JLT4:8:1120:43926:23167 YES_LDAS 0.4005 GT 1.8256 AG 1.9219 "[""GTEx_recurrent_StarF2019"",""ChimerSeq"",""INTRACHROMOSOMAL[chr1:0.09Mb]"",""NEIGHBORS[89682]""]" chr1:65425378-chr1:65565546 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 118 AC092807.3--DDAH1 94 1 94.0 1.0 ONLY_REF_SPLICE AC092807.3^ENSG00000282057.1 chr1:85577984:- DDAH1^ENSG00000153904.21 chr1:85358847:- LH00995:25:23T55JLT4:2:1108:26839:29557,LH00995:25:23T55JLT4:2:1114:27139:20939,LH00995:25:23T55JLT4:2:1128:12164:3774,LH00995:25:23T55JLT4:2:1133:28061:27637,LH00995:25:23T55JLT4:2:1143:12577:16371,LH00995:25:23T55JLT4:2:1161:11501:10977,LH00995:25:23T55JLT4:2:1163:1405:11537,LH00995:25:23T55JLT4:5:1114:7496:21416,LH00995:25:23T55JLT4:5:1138:18038:26671,LH00995:25:23T55JLT4:5:1152:47971:25381,LH00995:25:23T55JLT4:5:1219:46094:17731,LH00995:25:23T55JLT4:5:1241:7618:15881,LH00995:25:23T55JLT4:5:1296:22997:22593,LH00995:25:23T55JLT4:5:1307:34590:3718,LH00995:25:23T55JLT4:5:1358:40479:24541,LH00995:25:23T55JLT4:5:1461:50834:15769,LH00995:25:23T55JLT4:5:2139:8257:12532,LH00995:25:23T55JLT4:5:2141:24356:26600,LH00995:25:23T55JLT4:5:2145:44225:16259,LH00995:25:23T55JLT4:5:2173:12941:17759,LH00995:25:23T55JLT4:5:2196:38756:7011,LH00995:25:23T55JLT4:5:2203:36782:13513,LH00995:25:23T55JLT4:5:2288:39654:18992,LH00995:25:23T55JLT4:5:2301:38748:16105,LH00995:25:23T55JLT4:5:2312:51902:5008,LH00995:25:23T55JLT4:5:2319:38343:6269,LH00995:25:23T55JLT4:5:2367:26839:26250,LH00995:25:23T55JLT4:5:2386:18628:10290,LH00995:25:23T55JLT4:5:2484:6291:14172,LH00995:25:23T55JLT4:5:2489:11234:22621,LH00995:25:23T55JLT4:5:2493:13766:6689,LH00995:25:23T55JLT4:6:1120:33376:9155,LH00995:25:23T55JLT4:6:1146:21241:14312,LH00995:25:23T55JLT4:6:1149:20562:26979,LH00995:25:23T55JLT4:6:1239:11841:12266,LH00995:25:23T55JLT4:6:1256:31305:20169,LH00995:25:23T55JLT4:6:1282:7852:14942,LH00995:25:23T55JLT4:6:1303:24671:17422,LH00995:25:23T55JLT4:6:1347:21419:23952,LH00995:25:23T55JLT4:6:1357:34379:4811,LH00995:25:23T55JLT4:6:1394:2934:28674,LH00995:25:23T55JLT4:6:1444:43707:9057,LH00995:25:23T55JLT4:6:1490:20327:18726,LH00995:25:23T55JLT4:6:2116:7690:19342,LH00995:25:23T55JLT4:6:2140:3993:23924,LH00995:25:23T55JLT4:6:2142:1243:3046,LH00995:25:23T55JLT4:6:2184:38085:25802,LH00995:25:23T55JLT4:6:2191:8629:28310,LH00995:25:23T55JLT4:6:2204:1558:18025,LH00995:25:23T55JLT4:6:2235:30828:23518,LH00995:25:23T55JLT4:6:2253:41046:20729,LH00995:25:23T55JLT4:6:2258:46935:15909,LH00995:25:23T55JLT4:6:2262:41240:14340,LH00995:25:23T55JLT4:6:2286:26484:29473,LH00995:25:23T55JLT4:6:2335:36426:25115,LH00995:25:23T55JLT4:6:2370:7852:20968,LH00995:25:23T55JLT4:6:2404:5150:21220,LH00995:25:23T55JLT4:6:2412:22026:3032,LH00995:25:23T55JLT4:6:2430:32033:12238,LH00995:25:23T55JLT4:6:2459:2189:23742,LH00995:25:23T55JLT4:6:2467:37041:18529,LH00995:25:23T55JLT4:6:2479:8961:20729,LH00995:25:23T55JLT4:6:2490:51150:15755,LH00995:25:23T55JLT4:6:2496:14033:15671,LH00995:25:23T55JLT4:8:1114:37227:13191,LH00995:25:23T55JLT4:8:1127:18005:16722,LH00995:25:23T55JLT4:8:1135:23409:29109,LH00995:25:23T55JLT4:8:1135:44613:28646,LH00995:25:23T55JLT4:8:1140:47121:22593,LH00995:25:23T55JLT4:8:1220:12674:8188,LH00995:25:23T55JLT4:8:1247:27058:10290,LH00995:25:23T55JLT4:8:1277:28255:14242,LH00995:25:23T55JLT4:8:1285:3896:15713,LH00995:25:23T55JLT4:8:1292:34978:16414,LH00995:25:23T55JLT4:8:1295:33716:21038,LH00995:25:23T55JLT4:8:1317:4584:17072,LH00995:25:23T55JLT4:8:1351:21508:23238,LH00995:25:23T55JLT4:8:1363:32082:28128,LH00995:25:23T55JLT4:8:1367:40827:19370,LH00995:25:23T55JLT4:8:1369:6914:21472,LH00995:25:23T55JLT4:8:1389:45924:12784,LH00995:25:23T55JLT4:8:1420:4001:5750,LH00995:25:23T55JLT4:8:1445:49758:25115,LH00995:25:23T55JLT4:8:1458:35423:10402,LH00995:25:23T55JLT4:8:2121:39808:25087,LH00995:25:23T55JLT4:8:2140:37324:17983,LH00995:25:23T55JLT4:8:2175:47631:14648,LH00995:25:23T55JLT4:8:2196:51441:11131,LH00995:25:23T55JLT4:8:2263:44678:8861,LH00995:25:23T55JLT4:8:2311:35253:26755,LH00995:25:23T55JLT4:8:2316:21985:5484,LH00995:25:23T55JLT4:8:2390:42186:18333,LH00995:25:23T55JLT4:8:2469:14195:7768,LH00995:25:23T55JLT4:8:2475:12714:14031 LH00995:25:23T55JLT4:8:2141:45843:5330 YES_LDAS 0.3224 GT 1.8062 AG 1.8062 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr1:0.02Mb]"",""NEIGHBORS[17122]""]" chr1:85577984-chr1:85358847 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 95 MTAP--CDKN2B-AS1 76 1 76.0 1.0 ONLY_REF_SPLICE MTAP^ENSG00000099810.21 chr9:21838010:+ CDKN2B-AS1^ENSG00000240498.9 chr9:22112320:+ LH00995:25:23T55JLT4:2:1121:16735:20855,LH00995:25:23T55JLT4:2:1142:10012:19833,LH00995:25:23T55JLT4:5:1109:42930:9085,LH00995:25:23T55JLT4:5:1111:45956:19762,LH00995:25:23T55JLT4:5:1139:31613:16526,LH00995:25:23T55JLT4:5:1160:48602:25830,LH00995:25:23T55JLT4:5:1194:32753:24583,LH00995:25:23T55JLT4:5:1215:41337:16021,LH00995:25:23T55JLT4:5:1380:5118:1659,LH00995:25:23T55JLT4:5:1385:5401:19048,LH00995:25:23T55JLT4:5:1443:48860:19020,LH00995:25:23T55JLT4:5:1488:7965:15587,LH00995:25:23T55JLT4:5:1489:39921:27385,LH00995:25:23T55JLT4:5:2115:40730:24302,LH00995:25:23T55JLT4:5:2137:36547:5708,LH00995:25:23T55JLT4:5:2151:22293:3774,LH00995:25:23T55JLT4:5:2159:7593:29039,LH00995:25:23T55JLT4:5:2160:50980:11846,LH00995:25:23T55JLT4:5:2163:42275:22355,LH00995:25:23T55JLT4:5:2163:50584:10010,LH00995:25:23T55JLT4:5:2181:19599:23181,LH00995:25:23T55JLT4:5:2182:33514:10150,LH00995:25:23T55JLT4:5:2213:2869:27161,LH00995:25:23T55JLT4:5:2275:7601:3382,LH00995:25:23T55JLT4:5:2303:9778:4601,LH00995:25:23T55JLT4:5:2318:51862:8861,LH00995:25:23T55JLT4:5:2389:46207:13219,LH00995:25:23T55JLT4:6:1132:27438:27399,LH00995:25:23T55JLT4:6:1164:3613:11719,LH00995:25:23T55JLT4:6:1176:37049:20505,LH00995:25:23T55JLT4:6:1368:25537:26264,LH00995:25:23T55JLT4:6:1382:14761:16231,LH00995:25:23T55JLT4:6:1420:43642:17268,LH00995:25:23T55JLT4:6:1421:10975:19454,LH00995:25:23T55JLT4:6:1440:12771:15727,LH00995:25:23T55JLT4:6:1462:49775:26881,LH00995:25:23T55JLT4:6:1468:39889:21024,LH00995:25:23T55JLT4:6:2128:39767:9716,LH00995:25:23T55JLT4:6:2145:29663:12784,LH00995:25:23T55JLT4:6:2182:13159:28674,LH00995:25:23T55JLT4:6:2191:45398:21430,LH00995:25:23T55JLT4:6:2241:11695:3550,LH00995:25:23T55JLT4:6:2277:27147:6633,LH00995:25:23T55JLT4:6:2324:9381:14732,LH00995:25:23T55JLT4:6:2369:2497:22285,LH00995:25:23T55JLT4:6:2404:48998:14858,LH00995:25:23T55JLT4:6:2420:42291:1617,LH00995:25:23T55JLT4:6:2429:34768:29109,LH00995:25:23T55JLT4:6:2448:31305:12770,LH00995:25:23T55JLT4:6:2473:36111:7081,LH00995:25:23T55JLT4:8:1110:19599:29375,LH00995:25:23T55JLT4:8:1130:43926:15965,LH00995:25:23T55JLT4:8:1157:21209:4643,LH00995:25:23T55JLT4:8:1160:1421:13779,LH00995:25:23T55JLT4:8:1236:15044:4279,LH00995:25:23T55JLT4:8:1319:27810:28576,LH00995:25:23T55JLT4:8:1363:9041:9716,LH00995:25:23T55JLT4:8:1415:17665:13583,LH00995:25:23T55JLT4:8:1428:5781:1687,LH00995:25:23T55JLT4:8:1455:3362:17871,LH00995:25:23T55JLT4:8:2118:34857:21276,LH00995:25:23T55JLT4:8:2140:4827:22004,LH00995:25:23T55JLT4:8:2153:15182:22677,LH00995:25:23T55JLT4:8:2184:19728:14158,LH00995:25:23T55JLT4:8:2188:15554:20715,LH00995:25:23T55JLT4:8:2242:30084:19342,LH00995:25:23T55JLT4:8:2266:20311:13485,LH00995:25:23T55JLT4:8:2277:11744:8146,LH00995:25:23T55JLT4:8:2318:26742:13891,LH00995:25:23T55JLT4:8:2371:12140:25199,LH00995:25:23T55JLT4:8:2380:42372:24905,LH00995:25:23T55JLT4:8:2415:7585:23616,LH00995:25:23T55JLT4:8:2418:46013:20337,LH00995:25:23T55JLT4:8:2436:10886:25157,LH00995:25:23T55JLT4:8:2488:31693:22859,LH00995:25:23T55JLT4:8:2494:43157:18838 LH00995:25:23T55JLT4:5:1270:5547:12378 YES_LDAS 0.2614 GT 1.5301 AG 1.8323 "[""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr9:0.06Mb]"",""NEIGHBORS[56488]""]" chr9:21838010-chr9:22112320 False 1 PASS 77 COL8A1--CMSS1 62 0 62.0 0.0 INCL_NON_REF_SPLICE COL8A1^ENSG00000144810.16 chr3:99794382:+ CMSS1^ENSG00000184220.12 chr3:100146973:+ LH00995:25:23T55JLT4:2:1163:44354:8833,LH00995:25:23T55JLT4:2:1165:16347:16428,LH00995:25:23T55JLT4:5:1103:19914:27035,LH00995:25:23T55JLT4:5:1115:22244:5344,LH00995:25:23T55JLT4:5:1249:24526:4503,LH00995:25:23T55JLT4:5:1281:33902:11131,LH00995:25:23T55JLT4:5:1321:7682:20337,LH00995:25:23T55JLT4:5:1356:45552:27245,LH00995:25:23T55JLT4:5:1367:35949:23672,LH00995:25:23T55JLT4:5:1403:6161:26755,LH00995:25:23T55JLT4:5:1429:9567:6058,LH00995:25:23T55JLT4:5:2115:14850:17983,LH00995:25:23T55JLT4:5:2126:51838:3634,LH00995:25:23T55JLT4:5:2137:35447:14732,LH00995:25:23T55JLT4:5:2177:51668:11243,LH00995:25:23T55JLT4:5:2188:29574:15377,LH00995:25:23T55JLT4:5:2258:15853:3550,LH00995:25:23T55JLT4:5:2371:22544:25171,LH00995:25:23T55JLT4:5:2390:21460:18333,LH00995:25:23T55JLT4:5:2438:36936:14480,LH00995:25:23T55JLT4:5:2442:10676:27651,LH00995:25:23T55JLT4:5:2444:47566:15573,LH00995:25:23T55JLT4:5:2482:4001:28730,LH00995:25:23T55JLT4:5:2497:36669:5274,LH00995:25:23T55JLT4:6:1138:17673:13121,LH00995:25:23T55JLT4:6:1152:34808:1603,LH00995:25:23T55JLT4:6:1264:12197:4783,LH00995:25:23T55JLT4:6:1264:8022:1168,LH00995:25:23T55JLT4:6:1297:34840:22145,LH00995:25:23T55JLT4:6:1370:7197:3410,LH00995:25:23T55JLT4:6:1378:28053:21570,LH00995:25:23T55JLT4:6:1437:28174:10402,LH00995:25:23T55JLT4:6:1439:37648:2569,LH00995:25:23T55JLT4:6:1489:10061:7642,LH00995:25:23T55JLT4:6:2156:18814:15012,LH00995:25:23T55JLT4:6:2168:19615:24751,LH00995:25:23T55JLT4:6:2189:32956:6885,LH00995:25:23T55JLT4:6:2235:4592:22691,LH00995:25:23T55JLT4:6:2309:13604:28772,LH00995:25:23T55JLT4:6:2333:43408:21122,LH00995:25:23T55JLT4:6:2379:21460:9702,LH00995:25:23T55JLT4:6:2405:6801:17633,LH00995:25:23T55JLT4:6:2464:39848:29221,LH00995:25:23T55JLT4:8:1115:38076:24667,LH00995:25:23T55JLT4:8:1151:28045:15335,LH00995:25:23T55JLT4:8:1192:13208:8609,LH00995:25:23T55JLT4:8:1226:5959:5722,LH00995:25:23T55JLT4:8:1468:23417:16904,LH00995:25:23T55JLT4:8:1498:40730:13541,LH00995:25:23T55JLT4:8:2122:26564:26699,LH00995:25:23T55JLT4:8:2129:27640:10402,LH00995:25:23T55JLT4:8:2167:50300:21178,LH00995:25:23T55JLT4:8:2188:3281:18151,LH00995:25:23T55JLT4:8:2215:23215:6773,LH00995:25:23T55JLT4:8:2237:45624:13359,LH00995:25:23T55JLT4:8:2251:7812:11481,LH00995:25:23T55JLT4:8:2258:7003:20393,LH00995:25:23T55JLT4:8:2333:28733:29557,LH00995:25:23T55JLT4:8:2351:11210:13919,LH00995:25:23T55JLT4:8:2411:22956:8062,LH00995:25:23T55JLT4:8:2430:35083:28478,LH00995:25:23T55JLT4:8:2469:16800:13961 . YES_LDAS 0.2104 GT 1.8323 AG 1.9086 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr3:0.02Mb]"",""NEIGHBORS[18611]""]" chr3:99794382-chr3:100146973 True pair|recurrent breakpoints 0 Blacklisted FAIL 62 TMEM65--ANXA13 60 1 60.0 0.57 ONLY_REF_SPLICE TMEM65^ENSG00000164983.8 chr8:124371854:- ANXA13^ENSG00000104537.17 chr8:123684722:- LH00995:25:23T55JLT4:2:1145:13693:13149,LH00995:25:23T55JLT4:5:1132:34751:2597,LH00995:25:23T55JLT4:5:1142:31410:24246,LH00995:25:23T55JLT4:5:1161:45091:20001,LH00995:25:23T55JLT4:5:1194:27851:20996,LH00995:25:23T55JLT4:5:1262:25019:22397,LH00995:25:23T55JLT4:5:1263:17884:19062,LH00995:25:23T55JLT4:5:1283:39371:21472,LH00995:25:23T55JLT4:5:1363:3476:21822,LH00995:25:23T55JLT4:5:1368:17811:20477,LH00995:25:23T55JLT4:5:1419:37785:3284,LH00995:25:23T55JLT4:5:1426:14526:15265,LH00995:25:23T55JLT4:5:1428:25561:5008,LH00995:25:23T55JLT4:5:1458:4632:13625,LH00995:25:23T55JLT4:5:2168:51999:24821,LH00995:25:23T55JLT4:5:2228:45034:18922,LH00995:25:23T55JLT4:5:2230:30893:12700,LH00995:25:23T55JLT4:5:2267:45811:14746,LH00995:25:23T55JLT4:5:2277:32923:25465,LH00995:25:23T55JLT4:5:2308:51287:5960,LH00995:25:23T55JLT4:5:2363:31815:3816,LH00995:25:23T55JLT4:5:2393:16792:9267,LH00995:25:23T55JLT4:5:2492:37793:10360,LH00995:25:23T55JLT4:6:1114:22964:4433,LH00995:25:23T55JLT4:6:1118:27495:29095,LH00995:25:23T55JLT4:6:1141:6016:13835,LH00995:25:23T55JLT4:6:1203:5765:23854,LH00995:25:23T55JLT4:6:1317:19720:26082,LH00995:25:23T55JLT4:6:1322:2683:27567,LH00995:25:23T55JLT4:6:1478:44120:18852,LH00995:25:23T55JLT4:6:2139:4851:1392,LH00995:25:23T55JLT4:6:2170:6849:11860,LH00995:25:23T55JLT4:6:2260:45301:12014,LH00995:25:23T55JLT4:6:2284:12674:1210,LH00995:25:23T55JLT4:6:2331:1421:1392,LH00995:25:23T55JLT4:6:2404:6744:28128,LH00995:25:23T55JLT4:6:2476:5296:3480,LH00995:25:23T55JLT4:8:1113:43966:13261,LH00995:25:23T55JLT4:8:1128:4705:12266,LH00995:25:23T55JLT4:8:1157:13523:22467,LH00995:25:23T55JLT4:8:1191:39816:23756,LH00995:25:23T55JLT4:8:1229:10926:26096,LH00995:25:23T55JLT4:8:1244:17673:13401,LH00995:25:23T55JLT4:8:1257:22188:1575,LH00995:25:23T55JLT4:8:1345:19502:23490,LH00995:25:23T55JLT4:8:1353:3095:28618,LH00995:25:23T55JLT4:8:1366:31216:12392,LH00995:25:23T55JLT4:8:1383:34485:27357,LH00995:25:23T55JLT4:8:1395:4301:2093,LH00995:25:23T55JLT4:8:1412:2804:1687,LH00995:25:23T55JLT4:8:1415:24356:8889,LH00995:25:23T55JLT4:8:2142:50478:18964,LH00995:25:23T55JLT4:8:2152:18887:18277,LH00995:25:23T55JLT4:8:2209:34072:29417,LH00995:25:23T55JLT4:8:2210:28627:6030,LH00995:25:23T55JLT4:8:2265:11072:11972,LH00995:25:23T55JLT4:8:2293:16298:2724,LH00995:25:23T55JLT4:8:2367:51716:1967,LH00995:25:23T55JLT4:8:2482:47841:9547,LH00995:25:23T55JLT4:8:2485:8872:14410 LH00995:25:23T55JLT4:6:1398:52153:25479 YES_LDAS 0.2055 GT 1.9656 AG 1.9219 "[""INTRACHROMOSOMAL[chr8:0.57Mb]""]" chr8:124371854-chr8:123684722 False 1 PASS 61 ABLIM3--PTPRB 57 0 57.0 0.0 INCL_NON_REF_SPLICE ABLIM3^ENSG00000173210.20 chr5:149251419:+ PTPRB^ENSG00000127329.16 chr12:70558894:- LH00995:25:23T55JLT4:2:1103:17762:9351,LH00995:25:23T55JLT4:2:1132:9050:12084,LH00995:25:23T55JLT4:2:1159:10627:19776,LH00995:25:23T55JLT4:2:1166:22244:13807,LH00995:25:23T55JLT4:2:1167:5603:9281,LH00995:25:23T55JLT4:5:1145:31710:4755,LH00995:25:23T55JLT4:5:1170:48529:3648,LH00995:25:23T55JLT4:5:1252:24736:1729,LH00995:25:23T55JLT4:5:1289:22867:16764,LH00995:25:23T55JLT4:5:1422:6461:7824,LH00995:25:23T55JLT4:5:1448:17730:24064,LH00995:25:23T55JLT4:5:1485:8111:22481,LH00995:25:23T55JLT4:5:2182:50122:12462,LH00995:25:23T55JLT4:5:2264:20934:9435,LH00995:25:23T55JLT4:5:2353:14672:21038,LH00995:25:23T55JLT4:5:2357:25399:10612,LH00995:25:23T55JLT4:5:2367:32664:25830,LH00995:25:23T55JLT4:5:2470:24809:22733,LH00995:25:23T55JLT4:5:2489:9389:7516,LH00995:25:23T55JLT4:6:1185:38707:29515,LH00995:25:23T55JLT4:6:1230:44613:21388,LH00995:25:23T55JLT4:6:1254:16201:22285,LH00995:25:23T55JLT4:6:1257:38740:4517,LH00995:25:23T55JLT4:6:1267:37510:6983,LH00995:25:23T55JLT4:6:1292:7933:26124,LH00995:25:23T55JLT4:6:1302:24251:14256,LH00995:25:23T55JLT4:6:1307:24315:28408,LH00995:25:23T55JLT4:6:1405:27406:29697,LH00995:25:23T55JLT4:6:1406:50648:20379,LH00995:25:23T55JLT4:6:1426:16800:16820,LH00995:25:23T55JLT4:6:1443:27851:9085,LH00995:25:23T55JLT4:6:1449:42922:7109,LH00995:25:23T55JLT4:6:1475:22657:20911,LH00995:25:23T55JLT4:6:1483:24323:28030,LH00995:25:23T55JLT4:6:2138:5409:23602,LH00995:25:23T55JLT4:6:2184:31046:3130,LH00995:25:23T55JLT4:6:2226:45948:5232,LH00995:25:23T55JLT4:6:2329:33918:16876,LH00995:25:23T55JLT4:6:2434:29970:6479,LH00995:25:23T55JLT4:6:2473:30342:15755,LH00995:25:23T55JLT4:6:2491:18563:16736,LH00995:25:23T55JLT4:8:1106:27632:10052,LH00995:25:23T55JLT4:8:1113:51271:12238,LH00995:25:23T55JLT4:8:1147:15166:6451,LH00995:25:23T55JLT4:8:1162:21354:24401,LH00995:25:23T55JLT4:8:1227:42235:6507,LH00995:25:23T55JLT4:8:1235:45641:27735,LH00995:25:23T55JLT4:8:1344:6550:29529,LH00995:25:23T55JLT4:8:1356:43675:22341,LH00995:25:23T55JLT4:8:2107:45147:5526,LH00995:25:23T55JLT4:8:2167:24752:13975,LH00995:25:23T55JLT4:8:2214:8273:20127,LH00995:25:23T55JLT4:8:2361:30868:29277,LH00995:25:23T55JLT4:8:2377:45196:8721,LH00995:25:23T55JLT4:8:2475:4875:15447,LH00995:25:23T55JLT4:8:2495:18555:19104,LH00995:25:23T55JLT4:8:2496:49354:1378 . NO_LDAS 0.1935 GT 1.8295 AG 1.8892 "[""INTERCHROMOSOMAL[chr5--chr12]""]" chr5:149251419-chr12:70558894 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 57 TBC1D13--AL442224.1 47 0 47.0 0.0 ONLY_REF_SPLICE TBC1D13^ENSG00000107021.16 chr9:128792574:+ AL442224.1^ENSG00000231990.2 chr9:93825711:+ LH00995:25:23T55JLT4:5:1121:17795:17591,LH00995:25:23T55JLT4:5:1193:17714:7530,LH00995:25:23T55JLT4:5:1291:3888:10711,LH00995:25:23T55JLT4:5:1395:37696:23448,LH00995:25:23T55JLT4:5:1398:9575:27623,LH00995:25:23T55JLT4:5:1411:22147:25297,LH00995:25:23T55JLT4:5:1492:33651:27203,LH00995:25:23T55JLT4:5:2139:11679:18263,LH00995:25:23T55JLT4:5:2158:38983:3312,LH00995:25:23T55JLT4:5:2267:42235:5918,LH00995:25:23T55JLT4:5:2286:13774:20435,LH00995:25:23T55JLT4:5:2294:46927:7684,LH00995:25:23T55JLT4:5:2329:31475:13877,LH00995:25:23T55JLT4:5:2366:26338:14228,LH00995:25:23T55JLT4:5:2463:7699:6213,LH00995:25:23T55JLT4:6:1102:17042:17661,LH00995:25:23T55JLT4:6:1174:15424:4713,LH00995:25:23T55JLT4:6:1236:24631:22397,LH00995:25:23T55JLT4:6:1256:16112:25241,LH00995:25:23T55JLT4:6:1282:42486:25522,LH00995:25:23T55JLT4:6:1337:31556:4013,LH00995:25:23T55JLT4:6:1420:31524:12084,LH00995:25:23T55JLT4:6:1462:3063:28394,LH00995:25:23T55JLT4:6:1487:5352:22074,LH00995:25:23T55JLT4:6:2144:7165:10500,LH00995:25:23T55JLT4:6:2190:30011:24176,LH00995:25:23T55JLT4:6:2358:3103:20813,LH00995:25:23T55JLT4:6:2390:47728:10528,LH00995:25:23T55JLT4:6:2417:29137:23223,LH00995:25:23T55JLT4:6:2482:22172:28983,LH00995:25:23T55JLT4:8:1153:44945:9632,LH00995:25:23T55JLT4:8:1156:5207:11789,LH00995:25:23T55JLT4:8:1186:21209:5428,LH00995:25:23T55JLT4:8:1192:44338:7600,LH00995:25:23T55JLT4:8:1288:42704:27133,LH00995:25:23T55JLT4:8:1335:33303:13849,LH00995:25:23T55JLT4:8:1362:51465:5260,LH00995:25:23T55JLT4:8:1370:35051:22621,LH00995:25:23T55JLT4:8:1377:16120:10739,LH00995:25:23T55JLT4:8:1421:22681:2457,LH00995:25:23T55JLT4:8:2181:44799:6128,LH00995:25:23T55JLT4:8:2198:9211:27021,LH00995:25:23T55JLT4:8:2329:13920:24499,LH00995:25:23T55JLT4:8:2332:26200:18669,LH00995:25:23T55JLT4:8:2376:18620:24429,LH00995:25:23T55JLT4:8:2395:4891:4209,LH00995:25:23T55JLT4:8:2410:20400:2962 . YES_LDAS 0.1595 GT 1.9329 AG 1.9086 "[""INTRACHROMOSOMAL[chr9:34.93Mb]""]" chr9:128792574-chr9:93825711 False 1 PASS 47 B4GALT6--DSC3 47 0 47.0 0.0 ONLY_REF_SPLICE B4GALT6^ENSG00000118276.11 chr18:31684312:- DSC3^ENSG00000134762.17 chr18:30994372:- LH00995:25:23T55JLT4:2:1124:36192:28156,LH00995:25:23T55JLT4:2:1131:8880:11173,LH00995:25:23T55JLT4:5:1119:44257:24947,LH00995:25:23T55JLT4:5:1132:2464:5442,LH00995:25:23T55JLT4:5:1207:30998:29641,LH00995:25:23T55JLT4:5:1257:39670:6044,LH00995:25:23T55JLT4:5:1311:19089:12882,LH00995:25:23T55JLT4:5:1318:30140:13499,LH00995:25:23T55JLT4:5:1345:25197:24134,LH00995:25:23T55JLT4:5:1391:36467:6549,LH00995:25:23T55JLT4:5:1403:36798:24134,LH00995:25:23T55JLT4:5:1458:26880:14158,LH00995:25:23T55JLT4:5:1461:10668:22397,LH00995:25:23T55JLT4:5:2139:7610:4629,LH00995:25:23T55JLT4:5:2205:15497:3382,LH00995:25:23T55JLT4:5:2230:37777:4643,LH00995:25:23T55JLT4:5:2247:42841:4475,LH00995:25:23T55JLT4:5:2255:46118:17016,LH00995:25:23T55JLT4:5:2334:10045:16414,LH00995:25:23T55JLT4:5:2379:21120:2499,LH00995:25:23T55JLT4:5:2388:40673:3802,LH00995:25:23T55JLT4:6:1175:10991:4405,LH00995:25:23T55JLT4:6:1177:21549:25998,LH00995:25:23T55JLT4:6:1226:26815:13457,LH00995:25:23T55JLT4:6:1332:12108:16736,LH00995:25:23T55JLT4:6:1377:28085:7978,LH00995:25:23T55JLT4:6:1395:32341:17955,LH00995:25:23T55JLT4:6:1398:22350:4433,LH00995:25:23T55JLT4:6:1482:33344:27259,LH00995:25:23T55JLT4:6:1483:50260:6507,LH00995:25:23T55JLT4:6:2106:15950:7950,LH00995:25:23T55JLT4:6:2421:31896:19482,LH00995:25:23T55JLT4:6:2494:30496:26979,LH00995:25:23T55JLT4:8:1208:39185:8511,LH00995:25:23T55JLT4:8:1241:37178:15180,LH00995:25:23T55JLT4:8:1260:5142:6437,LH00995:25:23T55JLT4:8:1264:42833:17969,LH00995:25:23T55JLT4:8:1314:17358:29361,LH00995:25:23T55JLT4:8:1323:17131:17002,LH00995:25:23T55JLT4:8:1394:37405:6213,LH00995:25:23T55JLT4:8:1456:18013:4601,LH00995:25:23T55JLT4:8:1487:37405:25017,LH00995:25:23T55JLT4:8:2164:1194:20589,LH00995:25:23T55JLT4:8:2181:9899:2121,LH00995:25:23T55JLT4:8:2265:28644:11439,LH00995:25:23T55JLT4:8:2341:11541:15307,LH00995:25:23T55JLT4:8:2415:24857:27525 . YES_LDAS 0.1595 GT 1.8323 AG 1.9086 "[""INTRACHROMOSOMAL[chr18:0.58Mb]""]" chr18:31684312-chr18:30994372 False 1 PASS 47 TMEM65--ANXA13 45 1 45.0 0.43 ONLY_REF_SPLICE TMEM65^ENSG00000164983.8 chr8:124371854:- ANXA13^ENSG00000104537.17 chr8:123688946:- LH00995:25:23T55JLT4:2:1108:9187:11565,LH00995:25:23T55JLT4:5:1137:25408:8441,LH00995:25:23T55JLT4:5:1217:4964:3774,LH00995:25:23T55JLT4:5:1274:13531:5610,LH00995:25:23T55JLT4:5:1277:43351:2275,LH00995:25:23T55JLT4:5:1295:11266:8497,LH00995:25:23T55JLT4:5:1450:30197:20015,LH00995:25:23T55JLT4:5:1494:24356:23322,LH00995:25:23T55JLT4:5:2232:23555:2289,LH00995:25:23T55JLT4:5:2260:39355:1434,LH00995:25:23T55JLT4:5:2273:19558:20141,LH00995:25:23T55JLT4:5:2363:5272:15545,LH00995:25:23T55JLT4:6:1131:28029:3929,LH00995:25:23T55JLT4:6:1233:24477:8006,LH00995:25:23T55JLT4:6:1250:26904:11005,LH00995:25:23T55JLT4:6:1270:14656:22663,LH00995:25:23T55JLT4:6:1293:11582:1056,LH00995:25:23T55JLT4:6:1330:11258:10697,LH00995:25:23T55JLT4:6:1368:3743:7207,LH00995:25:23T55JLT4:6:1370:27527:12028,LH00995:25:23T55JLT4:6:1381:15886:1701,LH00995:25:23T55JLT4:6:1454:14300:15909,LH00995:25:23T55JLT4:6:2146:13321:23630,LH00995:25:23T55JLT4:6:2150:10433:27848,LH00995:25:23T55JLT4:6:2276:45196:28254,LH00995:25:23T55JLT4:6:2335:18402:29711,LH00995:25:23T55JLT4:6:2346:27074:16315,LH00995:25:23T55JLT4:6:2376:5272:29529,LH00995:25:23T55JLT4:6:2402:19631:28114,LH00995:25:23T55JLT4:8:1251:43812:5820,LH00995:25:23T55JLT4:8:1268:25537:6507,LH00995:25:23T55JLT4:8:1286:8143:21500,LH00995:25:23T55JLT4:8:1337:43222:13933,LH00995:25:23T55JLT4:8:1419:51643:28464,LH00995:25:23T55JLT4:8:1431:28635:1701,LH00995:25:23T55JLT4:8:1478:36847:13681,LH00995:25:23T55JLT4:8:2109:48359:25830,LH00995:25:23T55JLT4:8:2198:30359:22313,LH00995:25:23T55JLT4:8:2271:1947:28226,LH00995:25:23T55JLT4:8:2271:3904:17520,LH00995:25:23T55JLT4:8:2286:29355:3368,LH00995:25:23T55JLT4:8:2294:29711:9393,LH00995:25:23T55JLT4:8:2311:14761:5554,LH00995:25:23T55JLT4:8:2351:29347:25185,LH00995:25:23T55JLT4:8:2381:1558:6143 LH00995:25:23T55JLT4:6:1398:52153:25479 YES_LDAS 0.1542 GT 1.9656 AG 1.9656 "[""INTRACHROMOSOMAL[chr8:0.57Mb]""]" chr8:124371854-chr8:123688946 False 1 PASS 46 CLTC--VMP1 44 1 44.0 1.0 ONLY_REF_SPLICE CLTC^ENSG00000141367.12 chr17:59690711:+ VMP1^ENSG00000062716.13 chr17:59838295:+ LH00995:25:23T55JLT4:5:1127:6509:20547,LH00995:25:23T55JLT4:5:1137:36086:18305,LH00995:25:23T55JLT4:5:1207:9551:26909,LH00995:25:23T55JLT4:5:1240:9033:12280,LH00995:25:23T55JLT4:5:1320:41159:13387,LH00995:25:23T55JLT4:5:1388:50794:21892,LH00995:25:23T55JLT4:5:1395:38133:7109,LH00995:25:23T55JLT4:5:1424:37939:4923,LH00995:25:23T55JLT4:5:2133:9802:15208,LH00995:25:23T55JLT4:5:2344:39921:1687,LH00995:25:23T55JLT4:5:2463:27381:10066,LH00995:25:23T55JLT4:5:2480:51660:17422,LH00995:25:23T55JLT4:6:1112:24412:21570,LH00995:25:23T55JLT4:6:1127:6679:6157,LH00995:25:23T55JLT4:6:1147:25941:18585,LH00995:25:23T55JLT4:6:1240:29153:22467,LH00995:25:23T55JLT4:6:1261:13540:4727,LH00995:25:23T55JLT4:6:1274:49961:28660,LH00995:25:23T55JLT4:6:1293:32648:20253,LH00995:25:23T55JLT4:6:1309:46466:17899,LH00995:25:23T55JLT4:6:1348:38449:27806,LH00995:25:23T55JLT4:6:1443:27309:7334,LH00995:25:23T55JLT4:6:1464:42356:2149,LH00995:25:23T55JLT4:6:2184:3904:3788,LH00995:25:23T55JLT4:6:2241:5409:9477,LH00995:25:23T55JLT4:6:2351:3039:7642,LH00995:25:23T55JLT4:6:2407:48933:21220,LH00995:25:23T55JLT4:6:2431:12633:19917,LH00995:25:23T55JLT4:6:2439:48804:4853,LH00995:25:23T55JLT4:8:1208:44184:24849,LH00995:25:23T55JLT4:8:1254:5037:10038,LH00995:25:23T55JLT4:8:1262:9511:16806,LH00995:25:23T55JLT4:8:1266:32163:9407,LH00995:25:23T55JLT4:8:1285:45713:25732,LH00995:25:23T55JLT4:8:1290:29404:6787,LH00995:25:23T55JLT4:8:1307:40859:19090,LH00995:25:23T55JLT4:8:1396:14842:3985,LH00995:25:23T55JLT4:8:1447:3160:10542,LH00995:25:23T55JLT4:8:1453:50770:3046,LH00995:25:23T55JLT4:8:2188:21403:2513,LH00995:25:23T55JLT4:8:2206:43359:10977,LH00995:25:23T55JLT4:8:2291:21937:25325,LH00995:25:23T55JLT4:8:2378:28959:1532,LH00995:25:23T55JLT4:8:2484:30302:1532 LH00995:25:23T55JLT4:8:2228:21330:24387 YES_LDAS 0.1527 GT 1.8892 AG 1.8062 "[""Klijn_CellLines"",""Larsson_TCGA"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr17:0.01Mb]"",""NEIGHBORS[10236]""]" chr17:59690711-chr17:59838295 False 1 PASS 45 IGH@-ext--CREB3L2 42 0 42.0 0.0 INCL_NON_REF_SPLICE IGH@-ext^IGH.g@-ext chr14:105760805:- CREB3L2^ENSG00000182158.15 chr7:137928171:- LH00995:25:23T55JLT4:2:1125:35156:7109,LH00995:25:23T55JLT4:5:1115:45657:13443,LH00995:25:23T55JLT4:5:1144:31127:2093,LH00995:25:23T55JLT4:5:1158:1955:11986,LH00995:25:23T55JLT4:5:1237:31896:18081,LH00995:25:23T55JLT4:5:1376:46636:9225,LH00995:25:23T55JLT4:5:1451:20521:22257,LH00995:25:23T55JLT4:5:1457:40641:25129,LH00995:25:23T55JLT4:5:1467:40908:26572,LH00995:25:23T55JLT4:5:2102:42494:7824,LH00995:25:23T55JLT4:5:2253:51660:4559,LH00995:25:23T55JLT4:5:2283:23773:28338,LH00995:25:23T55JLT4:5:2287:35876:18221,LH00995:25:23T55JLT4:5:2301:33174:4657,LH00995:25:23T55JLT4:5:2373:19421:19594,LH00995:25:23T55JLT4:5:2375:11024:15251,LH00995:25:23T55JLT4:5:2405:5983:21906,LH00995:25:23T55JLT4:5:2429:20845:2359,LH00995:25:23T55JLT4:6:1157:42453:20197,LH00995:25:23T55JLT4:6:1196:46822:26558,LH00995:25:23T55JLT4:6:1235:46628:13303,LH00995:25:23T55JLT4:6:1340:36192:10753,LH00995:25:23T55JLT4:6:1386:10320:20589,LH00995:25:23T55JLT4:6:1429:33991:23896,LH00995:25:23T55JLT4:6:1467:39735:26839,LH00995:25:23T55JLT4:6:2105:35407:7712,LH00995:25:23T55JLT4:6:2115:34072:23364,LH00995:25:23T55JLT4:6:2315:14316:29501,LH00995:25:23T55JLT4:6:2424:51927:21164,LH00995:25:23T55JLT4:6:2455:51441:26685,LH00995:25:23T55JLT4:8:1177:13572:17899,LH00995:25:23T55JLT4:8:1332:6744:20757,LH00995:25:23T55JLT4:8:1350:52161:8427,LH00995:25:23T55JLT4:8:1373:16646:29137,LH00995:25:23T55JLT4:8:1392:13022:27735,LH00995:25:23T55JLT4:8:1487:30472:25620,LH00995:25:23T55JLT4:8:2273:51829:9758,LH00995:25:23T55JLT4:8:2379:19405:15615,LH00995:25:23T55JLT4:8:2381:39913:11537,LH00995:25:23T55JLT4:8:2395:34129:16400,LH00995:25:23T55JLT4:8:2441:21274:2878,LH00995:25:23T55JLT4:8:2493:32413:21472 . NO_LDAS 0.1426 CC 1.4566 CC 1.9656 "[""INTERCHROMOSOMAL[chr14--chr7]""]" chr14:105760805-chr7:137928171 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 42 SAA4--SAA1 39 0 39.0 0.0 ONLY_REF_SPLICE SAA4^ENSG00000148965.10 chr11:18232395:- SAA1^ENSG00000173432.12 chr11:18269717:+ LH00995:25:23T55JLT4:5:1146:37510:6114,LH00995:25:23T55JLT4:5:1167:35601:4965,LH00995:25:23T55JLT4:5:1170:47356:1813,LH00995:25:23T55JLT4:5:1201:12601:16918,LH00995:25:23T55JLT4:5:1218:34549:14494,LH00995:25:23T55JLT4:5:1220:16379:23546,LH00995:25:23T55JLT4:5:1432:37672:23209,LH00995:25:23T55JLT4:5:2111:39120:22551,LH00995:25:23T55JLT4:5:2136:42024:6703,LH00995:25:23T55JLT4:5:2335:40673:27960,LH00995:25:23T55JLT4:5:2336:25594:16610,LH00995:25:23T55JLT4:5:2430:40932:7334,LH00995:25:23T55JLT4:6:1130:23474:24176,LH00995:25:23T55JLT4:6:1158:9066:3060,LH00995:25:23T55JLT4:6:1219:28263:13023,LH00995:25:23T55JLT4:6:1289:20707:22299,LH00995:25:23T55JLT4:6:1308:29299:27904,LH00995:25:23T55JLT4:6:1317:16598:24260,LH00995:25:23T55JLT4:6:1382:41240:5988,LH00995:25:23T55JLT4:6:1467:19397:27091,LH00995:25:23T55JLT4:6:2154:24623:7502,LH00995:25:23T55JLT4:6:2204:45972:16428,LH00995:25:23T55JLT4:6:2339:40228:5442,LH00995:25:23T55JLT4:6:2354:3856:4489,LH00995:25:23T55JLT4:8:1193:41895:12476,LH00995:25:23T55JLT4:8:1228:2141:11607,LH00995:25:23T55JLT4:8:1280:50907:17128,LH00995:25:23T55JLT4:8:1283:13184:28156,LH00995:25:23T55JLT4:8:1326:38861:4979,LH00995:25:23T55JLT4:8:1363:46984:10080,LH00995:25:23T55JLT4:8:2113:45374:28618,LH00995:25:23T55JLT4:8:2173:47598:7670,LH00995:25:23T55JLT4:8:2215:10465:14984,LH00995:25:23T55JLT4:8:2247:33279:12210,LH00995:25:23T55JLT4:8:2249:15619:1350,LH00995:25:23T55JLT4:8:2280:42308:21122,LH00995:25:23T55JLT4:8:2302:20812:14942,LH00995:25:23T55JLT4:8:2437:40334:5204,LH00995:25:23T55JLT4:8:2473:32066:22018 . YES_LDAS 0.1324 GT 1.9329 AG 1.7819 "[""DGD_PARALOGS"",""INTRACHROMOSOMAL[chr11:0.03Mb]"",""LOCAL_INVERSION:-:+:[29458]""]" chr11:18232395-chr11:18269717 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 39 RPSAP52--HMGA2 34 0 34.0 0.0 ONLY_REF_SPLICE RPSAP52^ENSG00000241749.4 chr12:65826843:- HMGA2^ENSG00000149948.14 chr12:65828001:+ LH00995:25:23T55JLT4:2:1153:19389:3929,LH00995:25:23T55JLT4:5:1108:49597:13681,LH00995:25:23T55JLT4:5:1276:17229:25942,LH00995:25:23T55JLT4:5:1280:13572:18319,LH00995:25:23T55JLT4:5:2201:24817:20925,LH00995:25:23T55JLT4:5:2231:13248:1224,LH00995:25:23T55JLT4:5:2279:48262:27539,LH00995:25:23T55JLT4:5:2319:27462:2331,LH00995:25:23T55JLT4:5:2403:46603:18389,LH00995:25:23T55JLT4:6:1121:42777:25157,LH00995:25:23T55JLT4:6:1151:2642:29599,LH00995:25:23T55JLT4:6:1191:49394:4055,LH00995:25:23T55JLT4:6:1235:12747:10220,LH00995:25:23T55JLT4:6:1286:49216:26586,LH00995:25:23T55JLT4:6:1384:29995:9015,LH00995:25:23T55JLT4:6:1391:43384:5106,LH00995:25:23T55JLT4:6:2117:40366:24681,LH00995:25:23T55JLT4:6:2163:4835:22439,LH00995:25:23T55JLT4:6:2220:42405:17282,LH00995:25:23T55JLT4:6:2308:32600:26699,LH00995:25:23T55JLT4:6:2321:21452:15208,LH00995:25:23T55JLT4:6:2427:23765:25718,LH00995:25:23T55JLT4:6:2442:26621:12560,LH00995:25:23T55JLT4:6:2479:7982:24807,LH00995:25:23T55JLT4:8:1141:11913:19847,LH00995:25:23T55JLT4:8:1256:8451:9814,LH00995:25:23T55JLT4:8:1277:27365:4237,LH00995:25:23T55JLT4:8:1387:28474:26390,LH00995:25:23T55JLT4:8:1460:7027:6955,LH00995:25:23T55JLT4:8:2114:35010:21794,LH00995:25:23T55JLT4:8:2133:13677:29095,LH00995:25:23T55JLT4:8:2216:11614:26334,LH00995:25:23T55JLT4:8:2228:43189:11663,LH00995:25:23T55JLT4:8:2311:51004:21528 . YES_LDAS 0.1154 GT 1.9329 AG 1.8256 "[""TCGA_StarF2019"",""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr12:0.00Mb]"",""NEIGHBORS_OVERLAP:-:+:[2537]""]" chr12:65826843-chr12:65828001 False 1 PASS 34 CDV3--MT-RNR2 32 0 32.0 0.0 INCL_NON_REF_SPLICE CDV3^ENSG00000091527.16 chr3:133575115:+ MT-RNR2^ENSG00000210082.2 chrM:2449:+ LH00995:25:23T55JLT4:2:1117:34266:10472,LH00995:25:23T55JLT4:5:1115:40285:8286,LH00995:25:23T55JLT4:5:1119:34258:9982,LH00995:25:23T55JLT4:5:1160:2335:29123,LH00995:25:23T55JLT4:5:1160:8936:15643,LH00995:25:23T55JLT4:5:1190:8378:28072,LH00995:25:23T55JLT4:5:1255:38109:29011,LH00995:25:23T55JLT4:5:2153:11007:11944,LH00995:25:23T55JLT4:5:2165:32786:2499,LH00995:25:23T55JLT4:5:2183:29493:11481,LH00995:25:23T55JLT4:5:2183:37502:20365,LH00995:25:23T55JLT4:5:2258:47145:29417,LH00995:25:23T55JLT4:5:2263:31645:15545,LH00995:25:23T55JLT4:5:2292:24469:9365,LH00995:25:23T55JLT4:5:2403:30472:10346,LH00995:25:23T55JLT4:5:2462:47178:5064,LH00995:25:23T55JLT4:5:2481:16800:13457,LH00995:25:23T55JLT4:6:1121:33020:2625,LH00995:25:23T55JLT4:6:1149:37510:3564,LH00995:25:23T55JLT4:6:1156:14567:29319,LH00995:25:23T55JLT4:6:1280:37203:25115,LH00995:25:23T55JLT4:6:1357:34404:10458,LH00995:25:23T55JLT4:6:2287:32956:21094,LH00995:25:23T55JLT4:6:2457:23652:9211,LH00995:25:23T55JLT4:8:1194:12083:11481,LH00995:25:23T55JLT4:8:1237:7464:6899,LH00995:25:23T55JLT4:8:1378:38772:27806,LH00995:25:23T55JLT4:8:1410:15950:3270,LH00995:25:23T55JLT4:8:1427:10247:16371,LH00995:25:23T55JLT4:8:2181:34929:28772,LH00995:25:23T55JLT4:8:2198:25408:13989,LH00995:25:23T55JLT4:8:2492:30723:19468 . YES_LDAS 0.1086 GT 1.7968 AG 1.2419 "[""INTERCHROMOSOMAL[chr3--chrM]""]" chr3:133575115-chrM:2449 False 0 Does not meet inclusion criteria FAIL 32 TMEM123--PDGFD 31 0 31.0 0.0 ONLY_REF_SPLICE TMEM123^ENSG00000152558.15 chr11:102448812:- PDGFD^ENSG00000170962.13 chr11:104000255:- LH00995:25:23T55JLT4:2:1117:42882:11972,LH00995:25:23T55JLT4:2:1148:2464:5134,LH00995:25:23T55JLT4:5:1107:13782:16750,LH00995:25:23T55JLT4:5:1107:13790:16764,LH00995:25:23T55JLT4:5:1110:14963:7249,LH00995:25:23T55JLT4:5:1142:6404:23700,LH00995:25:23T55JLT4:5:1149:19000:10038,LH00995:25:23T55JLT4:5:1163:22382:17913,LH00995:25:23T55JLT4:5:1218:29671:7221,LH00995:25:23T55JLT4:5:1227:16606:15503,LH00995:25:23T55JLT4:5:1277:49993:12154,LH00995:25:23T55JLT4:5:1358:10020:24555,LH00995:25:23T55JLT4:5:2203:47267:2303,LH00995:25:23T55JLT4:5:2473:42251:22425,LH00995:25:23T55JLT4:5:2475:43950:16652,LH00995:25:23T55JLT4:6:1182:17398:24555,LH00995:25:23T55JLT4:6:1348:50616:23097,LH00995:25:23T55JLT4:6:1468:32810:29725,LH00995:25:23T55JLT4:6:2364:39775:25171,LH00995:25:23T55JLT4:6:2473:4115:12252,LH00995:25:23T55JLT4:6:2488:9834:12910,LH00995:25:23T55JLT4:8:1170:12237:2135,LH00995:25:23T55JLT4:8:1202:39225:27273,LH00995:25:23T55JLT4:8:1335:23523:5400,LH00995:25:23T55JLT4:8:1379:33489:1981,LH00995:25:23T55JLT4:8:1451:4187:6269,LH00995:25:23T55JLT4:8:1475:19906:1070,LH00995:25:23T55JLT4:8:2233:41685:12952,LH00995:25:23T55JLT4:8:2234:43052:17422,LH00995:25:23T55JLT4:8:2257:30529:11201,LH00995:25:23T55JLT4:8:2314:19656:6997 . YES_LDAS 0.1052 GT 1.9656 AG 1.8323 "[""INTRACHROMOSOMAL[chr11:1.44Mb]""]" chr11:102448812-chr11:104000255 False 1 PASS 31 CHST11--MME 31 0 31.0 0.0 INCL_NON_REF_SPLICE CHST11^ENSG00000171310.11 chr12:104601991:+ MME^ENSG00000196549.13 chr3:155183570:+ LH00995:25:23T55JLT4:2:1132:39614:3873,LH00995:25:23T55JLT4:5:1174:6218:15251,LH00995:25:23T55JLT4:5:1179:3791:27161,LH00995:25:23T55JLT4:5:1268:38246:19917,LH00995:25:23T55JLT4:5:1274:7100:28156,LH00995:25:23T55JLT4:5:1289:30569:13709,LH00995:25:23T55JLT4:5:1293:43602:21290,LH00995:25:23T55JLT4:5:1369:41596:21318,LH00995:25:23T55JLT4:5:1378:28700:13107,LH00995:25:23T55JLT4:5:1450:7132:6745,LH00995:25:23T55JLT4:5:1459:1744:14956,LH00995:25:23T55JLT4:5:2203:17601:5400,LH00995:25:23T55JLT4:5:2288:11792:22887,LH00995:25:23T55JLT4:5:2321:15651:18782,LH00995:25:23T55JLT4:5:2346:44257:3368,LH00995:25:23T55JLT4:5:2404:35407:7235,LH00995:25:23T55JLT4:5:2495:17172:2303,LH00995:25:23T55JLT4:6:1285:8540:22915,LH00995:25:23T55JLT4:6:1296:14802:9772,LH00995:25:23T55JLT4:6:2306:6566:8146,LH00995:25:23T55JLT4:6:2419:41369:1224,LH00995:25:23T55JLT4:8:1143:51158:26194,LH00995:25:23T55JLT4:8:1295:31532:17731,LH00995:25:23T55JLT4:8:1310:49710:17352,LH00995:25:23T55JLT4:8:1346:37276:13387,LH00995:25:23T55JLT4:8:1365:48804:25451,LH00995:25:23T55JLT4:8:1389:22131:2738,LH00995:25:23T55JLT4:8:2133:10223:10416,LH00995:25:23T55JLT4:8:2278:30658:23644,LH00995:25:23T55JLT4:8:2328:28951:2976,LH00995:25:23T55JLT4:8:2379:7820:18165 . NO_LDAS 0.1052 GT 1.7056 AG 1.9656 "[""INTERCHROMOSOMAL[chr12--chr3]""]" chr12:104601991-chr3:155183570 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 31 UMAD1--GLCCI1 30 0 30.0 0.0 ONLY_REF_SPLICE UMAD1^ENSG00000219545.11 chr7:7801743:+ GLCCI1^ENSG00000106415.13 chr7:8003908:+ LH00995:25:23T55JLT4:5:1181:41345:25620,LH00995:25:23T55JLT4:5:1278:13548:25704,LH00995:25:23T55JLT4:5:1294:11557:21864,LH00995:25:23T55JLT4:5:1296:34193:24218,LH00995:25:23T55JLT4:5:1370:49119:5036,LH00995:25:23T55JLT4:5:2468:7634:20813,LH00995:25:23T55JLT4:5:2473:21185:11271,LH00995:25:23T55JLT4:6:1168:4980:8623,LH00995:25:23T55JLT4:6:1207:2602:3999,LH00995:25:23T55JLT4:6:1217:10287:13639,LH00995:25:23T55JLT4:6:1231:7545:4853,LH00995:25:23T55JLT4:6:1332:5846:25760,LH00995:25:23T55JLT4:6:1396:28546:11271,LH00995:25:23T55JLT4:6:1450:45406:16343,LH00995:25:23T55JLT4:6:1485:22115:27483,LH00995:25:23T55JLT4:6:1490:20028:2681,LH00995:25:23T55JLT4:6:2295:1720:19286,LH00995:25:23T55JLT4:6:2386:18329:8286,LH00995:25:23T55JLT4:6:2434:28110:28198,LH00995:25:23T55JLT4:6:2459:20432:19020,LH00995:25:23T55JLT4:8:1177:19583:10402,LH00995:25:23T55JLT4:8:1227:8338:3368,LH00995:25:23T55JLT4:8:1289:28417:11467,LH00995:25:23T55JLT4:8:1374:51514:25942,LH00995:25:23T55JLT4:8:1412:10392:27133,LH00995:25:23T55JLT4:8:1436:24307:28590,LH00995:25:23T55JLT4:8:1484:32300:24499,LH00995:25:23T55JLT4:8:2144:19850:9800,LH00995:25:23T55JLT4:8:2345:20715:16876,LH00995:25:23T55JLT4:8:2404:32575:14970 . YES_LDAS 0.1018 GT 1.9656 AG 1.7465 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr7:0.00Mb]"",""NEIGHBORS[776]""]" chr7:7801743-chr7:8003908 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 30 PTPRM--TTC39C 30 0 30.0 0.0 ONLY_REF_SPLICE PTPRM^ENSG00000173482.17 chr18:7567891:+ TTC39C^ENSG00000168234.13 chr18:24064140:+ LH00995:25:23T55JLT4:2:1138:34557:6493,LH00995:25:23T55JLT4:5:1150:42121:4545,LH00995:25:23T55JLT4:5:1175:22544:17492,LH00995:25:23T55JLT4:5:1207:12221:29459,LH00995:25:23T55JLT4:5:1214:38246:9155,LH00995:25:23T55JLT4:5:2159:16331:27834,LH00995:25:23T55JLT4:5:2220:40123:18039,LH00995:25:23T55JLT4:5:2263:18305:22873,LH00995:25:23T55JLT4:5:2296:3540:21374,LH00995:25:23T55JLT4:5:2368:33198:9547,LH00995:25:23T55JLT4:5:2375:23159:5890,LH00995:25:23T55JLT4:5:2475:12237:16035,LH00995:25:23T55JLT4:6:1296:9753:14676,LH00995:25:23T55JLT4:6:1474:29283:22607,LH00995:25:23T55JLT4:6:2170:22293:21766,LH00995:25:23T55JLT4:6:2171:45940:1294,LH00995:25:23T55JLT4:6:2190:25626:13555,LH00995:25:23T55JLT4:6:2219:20505:28702,LH00995:25:23T55JLT4:6:2486:27050:8370,LH00995:25:23T55JLT4:8:1108:19348:8062,LH00995:25:23T55JLT4:8:1132:21015:7922,LH00995:25:23T55JLT4:8:1216:16646:5484,LH00995:25:23T55JLT4:8:1248:38505:4923,LH00995:25:23T55JLT4:8:1450:28951:25171,LH00995:25:23T55JLT4:8:1479:36280:26685,LH00995:25:23T55JLT4:8:2207:14429:15012,LH00995:25:23T55JLT4:8:2291:30407:28870,LH00995:25:23T55JLT4:8:2452:42267:21864,LH00995:25:23T55JLT4:8:2456:35779:15082,LH00995:25:23T55JLT4:8:2496:8313:5176 . YES_LDAS 0.1018 GT 1.9656 AG 1.7819 "[""INTRACHROMOSOMAL[chr18:15.59Mb]""]" chr18:7567891-chr18:24064140 False 1 PASS 30 PDCD1LG2--DYNC2H1 30 0 30.0 0.0 ONLY_REF_SPLICE PDCD1LG2^ENSG00000197646.8 chr9:5535050:+ DYNC2H1^ENSG00000187240.16 chr11:103114103:+ LH00995:25:23T55JLT4:2:1127:43295:15265,LH00995:25:23T55JLT4:5:1164:9470:16175,LH00995:25:23T55JLT4:5:1178:23620:20477,LH00995:25:23T55JLT4:5:1194:46943:2808,LH00995:25:23T55JLT4:5:1430:22948:27946,LH00995:25:23T55JLT4:5:1495:36434:15096,LH00995:25:23T55JLT4:5:2258:44435:20323,LH00995:25:23T55JLT4:5:2266:11493:2191,LH00995:25:23T55JLT4:5:2431:15344:19034,LH00995:25:23T55JLT4:6:1236:21427:28338,LH00995:25:23T55JLT4:6:1427:32850:29151,LH00995:25:23T55JLT4:6:2211:47315:8216,LH00995:25:23T55JLT4:6:2318:39225:27721,LH00995:25:23T55JLT4:6:2390:32591:6227,LH00995:25:23T55JLT4:6:2442:10983:17114,LH00995:25:23T55JLT4:8:1143:19380:5148,LH00995:25:23T55JLT4:8:1163:37065:12154,LH00995:25:23T55JLT4:8:1243:19469:7684,LH00995:25:23T55JLT4:8:1338:34832:5176,LH00995:25:23T55JLT4:8:1384:4196:27553,LH00995:25:23T55JLT4:8:1405:51166:10178,LH00995:25:23T55JLT4:8:1422:36806:25690,LH00995:25:23T55JLT4:8:1425:50074:4251,LH00995:25:23T55JLT4:8:2150:40673:17114,LH00995:25:23T55JLT4:8:2231:33053:3971,LH00995:25:23T55JLT4:8:2254:34266:25437,LH00995:25:23T55JLT4:8:2266:43521:12826,LH00995:25:23T55JLT4:8:2268:11517:7754,LH00995:25:23T55JLT4:8:2301:15457:11860,LH00995:25:23T55JLT4:8:2355:43513:8693 . YES_LDAS 0.1018 GT 1.9219 AG 1.8323 "[""INTERCHROMOSOMAL[chr9--chr11]""]" chr9:5535050-chr11:103114103 False 1 PASS 30 TMEM123--DYNC2H1 28 1 28.0 1.0 ONLY_REF_SPLICE TMEM123^ENSG00000152558.15 chr11:102448812:- DYNC2H1^ENSG00000187240.16 chr11:103280348:+ LH00995:25:23T55JLT4:5:1112:2060:6311,LH00995:25:23T55JLT4:5:1113:10821:22523,LH00995:25:23T55JLT4:5:1240:48504:6016,LH00995:25:23T55JLT4:5:1269:40164:24190,LH00995:25:23T55JLT4:5:1327:36928:6815,LH00995:25:23T55JLT4:5:2149:25505:6619,LH00995:25:23T55JLT4:5:2188:21087:19258,LH00995:25:23T55JLT4:5:2312:48513:22032,LH00995:25:23T55JLT4:5:2448:47008:28086,LH00995:25:23T55JLT4:6:1219:13839:6395,LH00995:25:23T55JLT4:6:1237:29485:20295,LH00995:25:23T55JLT4:6:1295:46757:22271,LH00995:25:23T55JLT4:6:1474:31378:21752,LH00995:25:23T55JLT4:6:2158:19097:27974,LH00995:25:23T55JLT4:6:2187:28975:17366,LH00995:25:23T55JLT4:6:2231:42332:14326,LH00995:25:23T55JLT4:6:2297:4511:17114,LH00995:25:23T55JLT4:6:2318:26864:16680,LH00995:25:23T55JLT4:6:2348:35132:4097,LH00995:25:23T55JLT4:6:2358:25173:17871,LH00995:25:23T55JLT4:6:2385:50964:19272,LH00995:25:23T55JLT4:8:1123:43812:17002,LH00995:25:23T55JLT4:8:1255:11339:29585,LH00995:25:23T55JLT4:8:1325:13993:29193,LH00995:25:23T55JLT4:8:1411:13224:12812,LH00995:25:23T55JLT4:8:2291:24121:4643,LH00995:25:23T55JLT4:8:2337:37267:20183,LH00995:25:23T55JLT4:8:2451:4074:28716 LH00995:25:23T55JLT4:6:2316:11533:17254 YES_LDAS 0.0984 GT 1.9656 AG 1.9086 "[""INTRACHROMOSOMAL[chr11:0.64Mb]""]" chr11:102448812-chr11:103280348 False 1 PASS 29 LILRB1--AC245884.12 26 0 23.64 0.0 ONLY_REF_SPLICE LILRB1^ENSG00000104972.15 chr19:54633318:+ AC245884.12^ENSG00000276758.1 chr19:54296252:- LH00995:25:23T55JLT4:5:1135:4891:9449,LH00995:25:23T55JLT4:5:1225:46636:5050,LH00995:25:23T55JLT4:5:1405:10870:27623,LH00995:25:23T55JLT4:5:1449:14745:18641,LH00995:25:23T55JLT4:5:1460:33101:12518,LH00995:25:23T55JLT4:5:2145:42413:29347,LH00995:25:23T55JLT4:5:2353:51522:29683,LH00995:25:23T55JLT4:6:1103:46984:22859,LH00995:25:23T55JLT4:6:1111:38780:8146,LH00995:25:23T55JLT4:6:1185:31677:10052,LH00995:25:23T55JLT4:6:1231:4349:12630,LH00995:25:23T55JLT4:6:1452:12957:11313,LH00995:25:23T55JLT4:6:2171:51821:8034,LH00995:25:23T55JLT4:6:2220:2836:27273,LH00995:25:23T55JLT4:6:2324:3055:10052,LH00995:25:23T55JLT4:6:2345:36968:19692,LH00995:25:23T55JLT4:6:2381:10215:29347,LH00995:25:23T55JLT4:8:1126:48335:10570,LH00995:25:23T55JLT4:8:1196:30901:26895,LH00995:25:23T55JLT4:8:1196:5482:28352,LH00995:25:23T55JLT4:8:1216:10182:18081,LH00995:25:23T55JLT4:8:1269:22398:25059,LH00995:25:23T55JLT4:8:1395:42324:27651,LH00995:25:23T55JLT4:8:2152:50907:22060,LH00995:25:23T55JLT4:8:2361:37729:6605,LH00995:25:23T55JLT4:8:2386:19405:28926 . YES_LDAS 0.0802 GT 1.9329 AG 1.8256 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr19:0.32Mb]""]" chr19:54633318-chr19:54296252 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 26 KCNH5--NCOA3 25 0 24.96 0.0 INCL_NON_REF_SPLICE KCNH5^ENSG00000140015.20 chr14:62950140:- NCOA3^ENSG00000124151.19 chr20:47651081:+ LH00995:25:23T55JLT4:5:1118:43367:10626,LH00995:25:23T55JLT4:5:1129:16371:19889,LH00995:25:23T55JLT4:5:1152:6881:9982,LH00995:25:23T55JLT4:5:1223:8451:15811,LH00995:25:23T55JLT4:5:1339:50211:27049,LH00995:25:23T55JLT4:5:2250:41280:19398,LH00995:25:23T55JLT4:5:2274:8928:19889,LH00995:25:23T55JLT4:5:2457:28174:24555,LH00995:25:23T55JLT4:5:2493:36491:27693,LH00995:25:23T55JLT4:5:2494:5943:15615,LH00995:25:23T55JLT4:6:1111:33934:18754,LH00995:25:23T55JLT4:6:1209:50842:8441,LH00995:25:23T55JLT4:6:1227:46482:17731,LH00995:25:23T55JLT4:6:1290:39897:16582,LH00995:25:23T55JLT4:6:1313:21629:3887,LH00995:25:23T55JLT4:6:1418:30278:27245,LH00995:25:23T55JLT4:6:1450:35552:27974,LH00995:25:23T55JLT4:6:2144:19567:23938,LH00995:25:23T55JLT4:6:2310:49904:28422,LH00995:25:23T55JLT4:6:2452:32632:15208,LH00995:25:23T55JLT4:8:1165:26775:13891,LH00995:25:23T55JLT4:8:1168:11436:15489,LH00995:25:23T55JLT4:8:1393:37672:7151,LH00995:25:23T55JLT4:8:2234:14850:4531,LH00995:25:23T55JLT4:8:2340:12674:26853 . NO_LDAS 0.0847 GT 1.7819 AG 1.5656 "[""INTERCHROMOSOMAL[chr14--chr20]""]" chr14:62950140-chr20:47651081 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 25 SH3BP5--AC002074.1 24 0 24.0 0.0 ONLY_REF_SPLICE SH3BP5^ENSG00000131370.16 chr3:15304103:- AC002074.1^ENSG00000285090.1 chr7:94279390:- LH00995:25:23T55JLT4:5:1109:10287:2289,LH00995:25:23T55JLT4:5:1124:5037:11916,LH00995:25:23T55JLT4:5:1201:28579:13625,LH00995:25:23T55JLT4:5:1345:4414:5204,LH00995:25:23T55JLT4:5:1383:28360:11341,LH00995:25:23T55JLT4:5:1385:15764:6955,LH00995:25:23T55JLT4:5:1387:41134:8300,LH00995:25:23T55JLT4:5:2467:10562:24176,LH00995:25:23T55JLT4:5:2478:47259:28660,LH00995:25:23T55JLT4:6:1124:47129:1308,LH00995:25:23T55JLT4:6:1151:39897:21066,LH00995:25:23T55JLT4:6:1195:20117:27497,LH00995:25:23T55JLT4:6:1286:16986:20841,LH00995:25:23T55JLT4:6:1431:19389:29711,LH00995:25:23T55JLT4:6:2393:28166:22131,LH00995:25:23T55JLT4:6:2433:51846:7095,LH00995:25:23T55JLT4:8:1194:12536:21682,LH00995:25:23T55JLT4:8:1298:47647:4391,LH00995:25:23T55JLT4:8:1405:25545:25550,LH00995:25:23T55JLT4:8:1461:10344:12588,LH00995:25:23T55JLT4:8:1497:2942:24513,LH00995:25:23T55JLT4:8:2268:32583:28324,LH00995:25:23T55JLT4:8:2290:23814:5316,LH00995:25:23T55JLT4:8:2423:25674:22915 . YES_LDAS 0.0815 GT 1.5546 AG 1.5546 "[""INTERCHROMOSOMAL[chr3--chr7]""]" chr3:15304103-chr7:94279390 False 1 PASS 24 SAMD5--SASH1 23 0 23.0 0.0 ONLY_REF_SPLICE SAMD5^ENSG00000203727.4 chr6:147509387:+ SASH1^ENSG00000111961.18 chr6:148390134:+ LH00995:25:23T55JLT4:2:1111:18385:28506,LH00995:25:23T55JLT4:2:1151:9972:3564,LH00995:25:23T55JLT4:5:1175:35391:14914,LH00995:25:23T55JLT4:5:1367:3435:3032,LH00995:25:23T55JLT4:5:1390:4082:4881,LH00995:25:23T55JLT4:5:1448:22026:10851,LH00995:25:23T55JLT4:5:2106:15522:6227,LH00995:25:23T55JLT4:5:2233:6906:4111,LH00995:25:23T55JLT4:5:2325:11517:5764,LH00995:25:23T55JLT4:5:2328:38521:21430,LH00995:25:23T55JLT4:6:1160:32850:16231,LH00995:25:23T55JLT4:6:1215:25691:8342,LH00995:25:23T55JLT4:6:1350:7674:21332,LH00995:25:23T55JLT4:6:1369:7982:22004,LH00995:25:23T55JLT4:6:1375:29242:20771,LH00995:25:23T55JLT4:6:1397:13022:28772,LH00995:25:23T55JLT4:6:1440:52048:15685,LH00995:25:23T55JLT4:6:2125:44637:28380,LH00995:25:23T55JLT4:6:2186:27835:11271,LH00995:25:23T55JLT4:6:2388:17471:2625,LH00995:25:23T55JLT4:8:2177:35253:4727,LH00995:25:23T55JLT4:8:2255:44443:6913,LH00995:25:23T55JLT4:8:2413:9066:4517 . YES_LDAS 0.0781 GT 1.8295 AG 1.9219 "[""HGNC_GENEFAM"",""INTRACHROMOSOMAL[chr6:0.70Mb]""]" chr6:147509387-chr6:148390134 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 23 APLP2--CERS3 23 0 23.0 0.0 INCL_NON_REF_SPLICE APLP2^ENSG00000084234.18 chr11:130121799:+ CERS3^ENSG00000154227.14 chr15:100402823:- LH00995:25:23T55JLT4:5:1350:16007:7123,LH00995:25:23T55JLT4:5:1471:2100:3382,LH00995:25:23T55JLT4:5:2247:15829:9001,LH00995:25:23T55JLT4:6:1203:10619:17072,LH00995:25:23T55JLT4:6:1290:2294:23139,LH00995:25:23T55JLT4:6:1313:23393:10725,LH00995:25:23T55JLT4:6:2130:27568:20281,LH00995:25:23T55JLT4:6:2147:24380:1448,LH00995:25:23T55JLT4:6:2259:46045:1589,LH00995:25:23T55JLT4:6:2445:28158:5274,LH00995:25:23T55JLT4:8:1158:42453:11958,LH00995:25:23T55JLT4:8:1158:42461:11972,LH00995:25:23T55JLT4:8:1269:21031:4951,LH00995:25:23T55JLT4:8:1380:19801:5036,LH00995:25:23T55JLT4:8:1396:37526:22285,LH00995:25:23T55JLT4:8:1412:28765:29501,LH00995:25:23T55JLT4:8:1424:25917:10528,LH00995:25:23T55JLT4:8:1493:35876:20996,LH00995:25:23T55JLT4:8:2158:45487:24358,LH00995:25:23T55JLT4:8:2430:46717:24947,LH00995:25:23T55JLT4:8:2433:48189:7376,LH00995:25:23T55JLT4:8:2460:47882:16652,LH00995:25:23T55JLT4:8:2486:24574:21906 . NO_LDAS 0.0781 GT 1.7819 AG 0.9968 "[""INTERCHROMOSOMAL[chr11--chr15]""]" chr11:130121799-chr15:100402823 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 23 TLK2P1--AC110079.1 21 0 19.54 0.0 INCL_NON_REF_SPLICE TLK2P1^ENSG00000226049.3 chr17:34039043:- AC110079.1^ENSG00000260404.3 chr4:118595912:+ LH00995:25:23T55JLT4:2:1111:49022:14031,LH00995:25:23T55JLT4:2:1140:28166:28604,LH00995:25:23T55JLT4:5:1201:6016:2485,LH00995:25:23T55JLT4:5:1436:50624:3382,LH00995:25:23T55JLT4:5:1463:17900:1098,LH00995:25:23T55JLT4:5:1467:40245:24527,LH00995:25:23T55JLT4:5:2212:9980:24373,LH00995:25:23T55JLT4:5:2484:14389:26236,LH00995:25:23T55JLT4:6:1206:6250:4657,LH00995:25:23T55JLT4:6:1247:46142:3887,LH00995:25:23T55JLT4:6:1403:19914:15965,LH00995:25:23T55JLT4:6:2167:21735:6086,LH00995:25:23T55JLT4:6:2211:35941:17268,LH00995:25:23T55JLT4:6:2231:41086:29599,LH00995:25:23T55JLT4:6:2429:35617:6983,LH00995:25:23T55JLT4:8:1247:8896:27091,LH00995:25:23T55JLT4:8:1458:18127:22341,LH00995:25:23T55JLT4:8:2220:10716:8076,LH00995:25:23T55JLT4:8:2323:37826:25157,LH00995:25:23T55JLT4:8:2414:7512:14802,LH00995:25:23T55JLT4:8:2462:9050:2724 . YES_LDAS 0.0663 GT 1.7465 AG 1.8892 "[""INTERCHROMOSOMAL[chr17--chr4]""]" chr17:34039043-chr4:118595912 False 0 Does not meet inclusion criteria FAIL 21 LILRB1--LILRA5 21 0 20.95 0.0 ONLY_REF_SPLICE LILRB1^ENSG00000104972.15 chr19:54631107:+ LILRA5^ENSG00000187116.14 chr19:54312370:- LH00995:25:23T55JLT4:2:1142:14996:8090,LH00995:25:23T55JLT4:5:1246:24906:22032,LH00995:25:23T55JLT4:5:1256:50867:29613,LH00995:25:23T55JLT4:5:1348:15344:25115,LH00995:25:23T55JLT4:5:1383:18062:9253,LH00995:25:23T55JLT4:5:2105:44751:11509,LH00995:25:23T55JLT4:5:2109:11962:3284,LH00995:25:23T55JLT4:5:2456:23539:4279,LH00995:25:23T55JLT4:6:1368:30075:28044,LH00995:25:23T55JLT4:6:1458:2100:29137,LH00995:25:23T55JLT4:6:2321:5005:10682,LH00995:25:23T55JLT4:6:2353:26006:13793,LH00995:25:23T55JLT4:6:2431:50284:18151,LH00995:25:23T55JLT4:8:1170:33724:29375,LH00995:25:23T55JLT4:8:1462:44265:29473,LH00995:25:23T55JLT4:8:1478:19745:24695,LH00995:25:23T55JLT4:8:1492:44314:6353,LH00995:25:23T55JLT4:8:2105:2489:29669,LH00995:25:23T55JLT4:8:2254:19049:1995,LH00995:25:23T55JLT4:8:2304:26969:22887,LH00995:25:23T55JLT4:8:2419:21994:12700 . YES_LDAS 0.0711 GT 1.7819 AG 1.7465 "[""DGD_PARALOGS"",""HGNC_GENEFAM"",""INTRACHROMOSOMAL[chr19:0.30Mb]""]" chr19:54631107-chr19:54312370 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 21 CPSF6--GRM8 21 0 21.0 0.0 INCL_NON_REF_SPLICE CPSF6^ENSG00000111605.18 chr12:69262562:+ GRM8^ENSG00000179603.18 chr7:126445313:- LH00995:25:23T55JLT4:5:1110:24024:19552,LH00995:25:23T55JLT4:5:1140:5417:10416,LH00995:25:23T55JLT4:5:1253:31904:15601,LH00995:25:23T55JLT4:5:1363:20497:20281,LH00995:25:23T55JLT4:5:2141:51668:4153,LH00995:25:23T55JLT4:5:2196:40997:27820,LH00995:25:23T55JLT4:5:2240:15012:25942,LH00995:25:23T55JLT4:5:2280:7488:13723,LH00995:25:23T55JLT4:5:2488:45479:6661,LH00995:25:23T55JLT4:5:2495:43804:17913,LH00995:25:23T55JLT4:6:1219:29064:26012,LH00995:25:23T55JLT4:6:2123:32373:18768,LH00995:25:23T55JLT4:6:2206:22358:20982,LH00995:25:23T55JLT4:6:2309:38934:10290,LH00995:25:23T55JLT4:6:2339:23765:26839,LH00995:25:23T55JLT4:6:2397:24364:2738,LH00995:25:23T55JLT4:6:2441:49807:13485,LH00995:25:23T55JLT4:8:1215:41660:21710,LH00995:25:23T55JLT4:8:2104:18434:10010,LH00995:25:23T55JLT4:8:2182:12116:14620,LH00995:25:23T55JLT4:8:2445:15635:23714 . NO_LDAS 0.0713 GT 1.9899 AG 1.8256 "[""DEEPEST2019"",""TumorFusionsNAR2018"",""ChimerSeq"",""TCGA_StarF2019"",""INTERCHROMOSOMAL[chr12--chr7]""]" chr12:69262562-chr7:126445313 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 21 SRGAP2C--FCGR1B 20 0 20.0 0.0 ONLY_REF_SPLICE SRGAP2C^ENSG00000171943.12 chr1:121324640:+ FCGR1B^ENSG00000198019.13 chr1:121092996:+ LH00995:25:23T55JLT4:2:1162:41976:18922,LH00995:25:23T55JLT4:5:1105:47995:21388,LH00995:25:23T55JLT4:5:1179:27430:9281,LH00995:25:23T55JLT4:5:1339:23353:16259,LH00995:25:23T55JLT4:5:2144:12318:9505,LH00995:25:23T55JLT4:5:2273:32583:4643,LH00995:25:23T55JLT4:5:2293:23086:25886,LH00995:25:23T55JLT4:5:2297:7189:15699,LH00995:25:23T55JLT4:5:2427:19397:24513,LH00995:25:23T55JLT4:5:2465:33384:1911,LH00995:25:23T55JLT4:6:1119:30504:10178,LH00995:25:23T55JLT4:6:1190:24218:14312,LH00995:25:23T55JLT4:6:1468:25529:11846,LH00995:25:23T55JLT4:6:2476:9195:22817,LH00995:25:23T55JLT4:8:1307:38538:16694,LH00995:25:23T55JLT4:8:1453:24679:6787,LH00995:25:23T55JLT4:8:2177:49548:14130,LH00995:25:23T55JLT4:8:2238:2262:2401,LH00995:25:23T55JLT4:8:2256:47064:26979,LH00995:25:23T55JLT4:8:2480:12973:9491 . YES_LDAS 0.0679 GT 1.7968 AG 1.9329 "[""INTRACHROMOSOMAL[chr1:0.09Mb]"",""LOCAL_REARRANGEMENT:+:[87650]""]" chr1:121324640-chr1:121092996 False 1 PASS 20 EWSR1--IGH@-ext 20 0 20.0 0.0 INCL_NON_REF_SPLICE EWSR1^ENSG00000182944.18 chr22:29287133:+ IGH@-ext^IGH.g@-ext chr14:106679374:- LH00995:25:23T55JLT4:2:1107:46272:10248,LH00995:25:23T55JLT4:5:1142:14672:19496,LH00995:25:23T55JLT4:5:1180:23935:2780,LH00995:25:23T55JLT4:5:1261:38934:3480,LH00995:25:23T55JLT4:5:1292:4972:23966,LH00995:25:23T55JLT4:5:1405:16565:22131,LH00995:25:23T55JLT4:5:1456:49629:13793,LH00995:25:23T55JLT4:5:2123:10053:9674,LH00995:25:23T55JLT4:5:2168:8184:3494,LH00995:25:23T55JLT4:6:1152:10360:20715,LH00995:25:23T55JLT4:6:1218:7569:10108,LH00995:25:23T55JLT4:6:1405:51959:23266,LH00995:25:23T55JLT4:6:1461:40730:28254,LH00995:25:23T55JLT4:6:1487:41385:20701,LH00995:25:23T55JLT4:6:2387:31669:18165,LH00995:25:23T55JLT4:8:1283:31459:15699,LH00995:25:23T55JLT4:8:1382:36070:11832,LH00995:25:23T55JLT4:8:2101:37235:1518,LH00995:25:23T55JLT4:8:2321:20683:1603,LH00995:25:23T55JLT4:8:2425:23320:9618 . NO_LDAS 0.0679 AG 1.8062 CT 1.7465 "[""INTERCHROMOSOMAL[chr22--chr14]""]" chr22:29287133-chr14:106679374 True pair|recurrent breakpoints 0 Blacklisted FAIL 20 BPTF--DCXR 20 0 20.0 0.0 INCL_NON_REF_SPLICE BPTF^ENSG00000171634.18 chr17:67945620:+ DCXR^ENSG00000169738.8 chr17:82037080:- LH00995:25:23T55JLT4:2:1149:24032:26769,LH00995:25:23T55JLT4:5:1406:51101:18221,LH00995:25:23T55JLT4:5:1437:35747:25507,LH00995:25:23T55JLT4:5:2262:7658:1911,LH00995:25:23T55JLT4:5:2291:23498:28086,LH00995:25:23T55JLT4:5:2314:40609:25886,LH00995:25:23T55JLT4:5:2372:47202:25115,LH00995:25:23T55JLT4:5:2386:31880:26853,LH00995:25:23T55JLT4:5:2490:37017:18627,LH00995:25:23T55JLT4:6:1169:25723:3718,LH00995:25:23T55JLT4:6:2271:51660:3578,LH00995:25:23T55JLT4:6:2287:21605:23882,LH00995:25:23T55JLT4:6:2349:3362:5540,LH00995:25:23T55JLT4:6:2390:45341:18221,LH00995:25:23T55JLT4:6:2482:29364:3746,LH00995:25:23T55JLT4:6:2494:39735:11565,LH00995:25:23T55JLT4:8:1446:43011:19146,LH00995:25:23T55JLT4:8:1468:34889:19875,LH00995:25:23T55JLT4:8:2204:12965:28422,LH00995:25:23T55JLT4:8:2420:49467:5190 . NO_LDAS 0.0679 GT 1.5628 AG 1.6049 "[""INTRACHROMOSOMAL[chr17:14.05Mb]""]" chr17:67945620-chr17:82037080 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 20 AC008740.1--CRYM-AS1 20 0 20.0 0.0 INCL_NON_REF_SPLICE AC008740.1^ENSG00000257403.2 chr16:21352138:+ CRYM-AS1^ENSG00000189149.12 chr16:21338921:+ LH00995:25:23T55JLT4:2:1105:24857:5862,LH00995:25:23T55JLT4:5:1173:21743:4923,LH00995:25:23T55JLT4:5:1377:7844:15461,LH00995:25:23T55JLT4:5:1489:10587:5218,LH00995:25:23T55JLT4:5:2158:45584:29319,LH00995:25:23T55JLT4:5:2183:12399:14746,LH00995:25:23T55JLT4:5:2439:28215:9744,LH00995:25:23T55JLT4:5:2442:1445:9533,LH00995:25:23T55JLT4:5:2462:39096:19286,LH00995:25:23T55JLT4:5:2498:16654:4321,LH00995:25:23T55JLT4:6:1157:3929:4111,LH00995:25:23T55JLT4:6:1219:8168:24260,LH00995:25:23T55JLT4:6:1264:46264:6002,LH00995:25:23T55JLT4:6:1281:20869:18627,LH00995:25:23T55JLT4:6:1341:3734:12658,LH00995:25:23T55JLT4:6:2278:14154:9099,LH00995:25:23T55JLT4:8:1165:20521:13149,LH00995:25:23T55JLT4:8:2191:50729:2611,LH00995:25:23T55JLT4:8:2365:28344:1448,LH00995:25:23T55JLT4:8:2491:2036:22803 . YES_LDAS 0.0679 GT 1.7232 AG 1.9656 "[""INTRACHROMOSOMAL[chr16:0.01Mb]"",""LOCAL_REARRANGEMENT:+:[8102]""]" chr16:21352138-chr16:21338921 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 20 TLK2--AC240565.1 19 0 5.41 0.0 ONLY_REF_SPLICE TLK2^ENSG00000146872.18 chr17:62560126:+ AC240565.1^ENSG00000280136.2 chr17:106864:- LH00995:25:23T55JLT4:5:1397:37162:19188,LH00995:25:23T55JLT4:5:2120:34533:2191,LH00995:25:23T55JLT4:5:2137:1930:12588,LH00995:25:23T55JLT4:6:1176:29760:9337,LH00995:25:23T55JLT4:6:1216:50632:26320,LH00995:25:23T55JLT4:6:1247:46142:3887,LH00995:25:23T55JLT4:6:1264:44654:23280,LH00995:25:23T55JLT4:6:1346:1898:21584,LH00995:25:23T55JLT4:6:1473:24817:26671,LH00995:25:23T55JLT4:6:2196:28053:5680,LH00995:25:23T55JLT4:6:2231:41086:29599,LH00995:25:23T55JLT4:6:2427:34638:22607,LH00995:25:23T55JLT4:6:2448:13151:20533,LH00995:25:23T55JLT4:8:1172:30982:25550,LH00995:25:23T55JLT4:8:1296:44977:20309,LH00995:25:23T55JLT4:8:1338:52129:15349,LH00995:25:23T55JLT4:8:2277:26993:20351,LH00995:25:23T55JLT4:8:2323:37826:25157,LH00995:25:23T55JLT4:8:2337:20529:3102 . YES_LDAS 0.0184 GT 1.8892 AG 1.8892 "[""INTRACHROMOSOMAL[chr17:62.34Mb]""]" chr17:62560126-chr17:106864 False 1 PASS 19 FLG-AS1--ARHGAP32 19 0 19.0 0.0 ONLY_REF_SPLICE FLG-AS1^ENSG00000237975.7 chr1:152251758:+ ARHGAP32^ENSG00000134909.18 chr11:128998468:- LH00995:25:23T55JLT4:2:1122:14446:3410,LH00995:25:23T55JLT4:2:1129:7189:22481,LH00995:25:23T55JLT4:5:1258:27195:14256,LH00995:25:23T55JLT4:5:1395:6129:11089,LH00995:25:23T55JLT4:5:2178:36111:18067,LH00995:25:23T55JLT4:5:2383:3168:3915,LH00995:25:23T55JLT4:6:1260:38222:1182,LH00995:25:23T55JLT4:6:1417:4964:3466,LH00995:25:23T55JLT4:6:1417:4988:3452,LH00995:25:23T55JLT4:6:1451:35512:9183,LH00995:25:23T55JLT4:6:2127:46830:28534,LH00995:25:23T55JLT4:6:2146:39201:17198,LH00995:25:23T55JLT4:6:2430:15158:22747,LH00995:25:23T55JLT4:8:1330:9082:16428,LH00995:25:23T55JLT4:8:1351:23336:13905,LH00995:25:23T55JLT4:8:1405:19251:28212,LH00995:25:23T55JLT4:8:1443:8394:15208,LH00995:25:23T55JLT4:8:2197:33150:23700,LH00995:25:23T55JLT4:8:2345:40261:7348 . YES_LDAS 0.0645 GT 1.8256 AG 1.9219 "[""INTERCHROMOSOMAL[chr1--chr11]""]" chr1:152251758-chr11:128998468 False 1 PASS 19 TRIM58--OR2W3 18 0 18.0 0.0 INCL_NON_REF_SPLICE TRIM58^ENSG00000162722.9 chr1:247868063:+ OR2W3^ENSG00000238243.3 chr1:247895557:+ LH00995:25:23T55JLT4:2:1142:39775:14606,LH00995:25:23T55JLT4:5:1131:32761:11621,LH00995:25:23T55JLT4:5:1139:33109:26600,LH00995:25:23T55JLT4:5:2116:34881:2653,LH00995:25:23T55JLT4:5:2133:23078:29123,LH00995:25:23T55JLT4:5:2298:34412:8847,LH00995:25:23T55JLT4:5:2339:17253:11299,LH00995:25:23T55JLT4:5:2355:2125:17577,LH00995:25:23T55JLT4:5:2483:6946:23686,LH00995:25:23T55JLT4:6:1205:46789:9688,LH00995:25:23T55JLT4:6:1365:46142:25634,LH00995:25:23T55JLT4:6:2305:23531:5694,LH00995:25:23T55JLT4:8:1356:39581:20407,LH00995:25:23T55JLT4:8:1416:5199:17885,LH00995:25:23T55JLT4:8:1486:28959:10052,LH00995:25:23T55JLT4:8:2173:47307:19468,LH00995:25:23T55JLT4:8:2188:10910:1406,LH00995:25:23T55JLT4:8:2415:40706:12995 . YES_LDAS 0.0611 GT 1.8892 AG 1.6729 "[""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr1:0.02Mb]"",""NEIGHBORS[15449]""]" chr1:247868063-chr1:247895557 True pair|recurrent breakpoints 0 Blacklisted FAIL 18 TMEM123--PDGFD 18 0 18.0 0.0 ONLY_REF_SPLICE TMEM123^ENSG00000152558.15 chr11:102448812:- PDGFD^ENSG00000170962.13 chr11:104000237:- LH00995:25:23T55JLT4:5:1150:10392:2583,LH00995:25:23T55JLT4:5:1212:42186:10234,LH00995:25:23T55JLT4:5:1368:45446:13891,LH00995:25:23T55JLT4:5:2204:10304:28128,LH00995:25:23T55JLT4:5:2446:40317:20337,LH00995:25:23T55JLT4:6:1104:35221:21514,LH00995:25:23T55JLT4:6:1154:27293:24288,LH00995:25:23T55JLT4:6:1211:27260:19889,LH00995:25:23T55JLT4:6:2276:22835:4153,LH00995:25:23T55JLT4:6:2301:16678:27623,LH00995:25:23T55JLT4:6:2329:22317:8076,LH00995:25:23T55JLT4:6:2412:27559:20575,LH00995:25:23T55JLT4:6:2435:9931:16722,LH00995:25:23T55JLT4:8:1218:9583:11187,LH00995:25:23T55JLT4:8:1375:22293:1280,LH00995:25:23T55JLT4:8:1379:27147:26558,LH00995:25:23T55JLT4:8:2179:11493:10598,LH00995:25:23T55JLT4:8:2341:37413:29515 . YES_LDAS 0.0611 GT 1.9656 AG 1.9656 "[""INTRACHROMOSOMAL[chr11:1.44Mb]""]" chr11:102448812-chr11:104000237 False 1 PASS 18 RPS3AP11--SEPTIN7 18 0 6.0 0.0 INCL_NON_REF_SPLICE RPS3AP11^ENSG00000230116.1 chr1:42491744:+ SEPTIN7^ENSG00000122545.20 chr7:35832798:+ LH00995:25:23T55JLT4:2:1141:51643:2205,LH00995:25:23T55JLT4:5:1388:36782:7348,LH00995:25:23T55JLT4:5:2104:15352:23784,LH00995:25:23T55JLT4:5:2287:46474:28478,LH00995:25:23T55JLT4:5:2337:16662:8286,LH00995:25:23T55JLT4:6:1239:12577:20547,LH00995:25:23T55JLT4:6:1389:37963:28114,LH00995:25:23T55JLT4:6:2162:9543:12266,LH00995:25:23T55JLT4:6:2183:10603:3312,LH00995:25:23T55JLT4:6:2314:23887:8497,LH00995:25:23T55JLT4:6:2354:16719:26572,LH00995:25:23T55JLT4:6:2408:25262:4994,LH00995:25:23T55JLT4:6:2425:30019:24387,LH00995:25:23T55JLT4:6:2466:47315:23490,LH00995:25:23T55JLT4:8:1114:16808:23055,LH00995:25:23T55JLT4:8:1303:43707:3396,LH00995:25:23T55JLT4:8:1426:15554:13429,LH00995:25:23T55JLT4:8:2376:32446:3088 . NO_LDAS 0.0204 GT 1.9329 AG 1.7968 "[""INTERCHROMOSOMAL[chr1--chr7]""]" chr1:42491744-chr7:35832798 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 18 BIRC3--PDGFD 18 0 18.0 0.0 ONLY_REF_SPLICE BIRC3^ENSG00000023445.16 chr11:102317571:+ PDGFD^ENSG00000170962.13 chr11:104000255:- LH00995:25:23T55JLT4:2:1116:29728:5666,LH00995:25:23T55JLT4:5:1195:49718:7586,LH00995:25:23T55JLT4:5:1420:27657:17549,LH00995:25:23T55JLT4:5:2178:13499:9421,LH00995:25:23T55JLT4:5:2193:6695:2345,LH00995:25:23T55JLT4:5:2435:8993:18768,LH00995:25:23T55JLT4:5:2440:9899:13807,LH00995:25:23T55JLT4:6:1235:47226:15236,LH00995:25:23T55JLT4:6:2208:2529:29291,LH00995:25:23T55JLT4:6:2427:37292:1084,LH00995:25:23T55JLT4:8:1227:44395:1140,LH00995:25:23T55JLT4:8:1303:31095:18684,LH00995:25:23T55JLT4:8:1432:29817:5596,LH00995:25:23T55JLT4:8:1435:43052:4195,LH00995:25:23T55JLT4:8:1496:25674:6997,LH00995:25:23T55JLT4:8:2138:28255:12084,LH00995:25:23T55JLT4:8:2322:30868:1897,LH00995:25:23T55JLT4:8:2379:5450:14284 . YES_LDAS 0.0611 GT 1.8323 AG 1.8323 "[""INTRACHROMOSOMAL[chr11:1.57Mb]""]" chr11:102317571-chr11:104000255 False 1 PASS 18 AC239859.5--AC013734.1 18 0 3.51 0.0 INCL_NON_REF_SPLICE AC239859.5^ENSG00000277702.1 chr1:143419625:- AC013734.1^ENSG00000277146.1 chrY:26453985:+ LH00995:25:23T55JLT4:2:1118:48869:1434,LH00995:25:23T55JLT4:5:1113:40746:14550,LH00995:25:23T55JLT4:5:1190:25335:11930,LH00995:25:23T55JLT4:5:1418:52032:21682,LH00995:25:23T55JLT4:5:2126:48852:19678,LH00995:25:23T55JLT4:5:2154:17641:23798,LH00995:25:23T55JLT4:5:2205:8200:5680,LH00995:25:23T55JLT4:5:2464:33748:7025,LH00995:25:23T55JLT4:6:1353:27988:18235,LH00995:25:23T55JLT4:6:2395:27470:29445,LH00995:25:23T55JLT4:6:2416:24777:23602,LH00995:25:23T55JLT4:8:1169:44993:12546,LH00995:25:23T55JLT4:8:1357:44735:16414,LH00995:25:23T55JLT4:8:1429:29088:15012,LH00995:25:23T55JLT4:8:1429:49710:11832,LH00995:25:23T55JLT4:8:2127:36758:24681,LH00995:25:23T55JLT4:8:2131:39961:26867,LH00995:25:23T55JLT4:8:2188:22600:27231 . YES_LDAS 0.0119 GT 1.7465 AG 1.8892 "[""INTERCHROMOSOMAL[chr1--chrY]""]" chr1:143419625-chrY:26453985 False 0 Does not meet inclusion criteria FAIL 18 YAF2--RYBP 17 0 17.0 0.0 INCL_NON_REF_SPLICE YAF2^ENSG00000015153.15 chr12:42238155:- RYBP^ENSG00000163602.11 chr3:72446621:- LH00995:25:23T55JLT4:5:1170:6647:2738,LH00995:25:23T55JLT4:5:1173:51320:7530,LH00995:25:23T55JLT4:5:1201:38869:24667,LH00995:25:23T55JLT4:5:1425:43068:3494,LH00995:25:23T55JLT4:5:2117:42032:28240,LH00995:25:23T55JLT4:6:1367:38619:9351,LH00995:25:23T55JLT4:6:1387:47509:24639,LH00995:25:23T55JLT4:6:1427:26306:15124,LH00995:25:23T55JLT4:6:2177:20092:19552,LH00995:25:23T55JLT4:6:2181:48181:25129,LH00995:25:23T55JLT4:6:2394:15611:10108,LH00995:25:23T55JLT4:6:2411:44476:6157,LH00995:25:23T55JLT4:8:1280:21921:7165,LH00995:25:23T55JLT4:8:2238:2319:19258,LH00995:25:23T55JLT4:8:2380:12569:3242,LH00995:25:23T55JLT4:8:2390:1380:16820,LH00995:25:23T55JLT4:8:2392:41628:2822 . YES_LDAS 0.0577 GT 1.5656 AG 1.4566 "[""INTERCHROMOSOMAL[chr12--chr3]""]" chr12:42238155-chr3:72446621 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 17 PDCD1LG2--DYNC2H1 17 0 17.0 0.0 ONLY_REF_SPLICE PDCD1LG2^ENSG00000197646.8 chr9:5535050:+ DYNC2H1^ENSG00000187240.16 chr11:103113537:+ LH00995:25:23T55JLT4:5:1129:8208:6591,LH00995:25:23T55JLT4:5:1350:30262:3480,LH00995:25:23T55JLT4:5:2304:32203:5638,LH00995:25:23T55JLT4:6:1292:52153:4769,LH00995:25:23T55JLT4:6:1337:31580:3634,LH00995:25:23T55JLT4:6:2293:6469:3270,LH00995:25:23T55JLT4:6:2310:18563:16960,LH00995:25:23T55JLT4:6:2473:1615:24597,LH00995:25:23T55JLT4:8:1133:19033:29431,LH00995:25:23T55JLT4:8:1293:30156:23420,LH00995:25:23T55JLT4:8:1332:3484:19090,LH00995:25:23T55JLT4:8:1333:13345:19552,LH00995:25:23T55JLT4:8:2140:44953:12588,LH00995:25:23T55JLT4:8:2165:20545:10949,LH00995:25:23T55JLT4:8:2216:37033:6605,LH00995:25:23T55JLT4:8:2470:23021:19945,LH00995:25:23T55JLT4:8:2470:23037:19945 . YES_LDAS 0.0577 GT 1.9219 AG 1.7819 "[""INTERCHROMOSOMAL[chr9--chr11]""]" chr9:5535050-chr11:103113537 False 1 PASS 17 BOLA2B--SMG1P2 17 0 17.0 0.0 INCL_NON_REF_SPLICE BOLA2B^ENSG00000169627.9 chr16:30193358:- SMG1P2^ENSG00000205534.6 chr16:29548658:- LH00995:25:23T55JLT4:2:1106:36847:5134,LH00995:25:23T55JLT4:2:1123:42777:8707,LH00995:25:23T55JLT4:5:1129:38877:9912,LH00995:25:23T55JLT4:5:1175:23417:20351,LH00995:25:23T55JLT4:5:1465:4924:25760,LH00995:25:23T55JLT4:5:2176:8346:20141,LH00995:25:23T55JLT4:6:1206:13127:15811,LH00995:25:23T55JLT4:6:1206:15983:12462,LH00995:25:23T55JLT4:6:2195:46361:9926,LH00995:25:23T55JLT4:6:2396:11145:5092,LH00995:25:23T55JLT4:6:2428:45560:27343,LH00995:25:23T55JLT4:8:2139:9592:26362,LH00995:25:23T55JLT4:8:2153:14494:7334,LH00995:25:23T55JLT4:8:2164:9600:16456,LH00995:25:23T55JLT4:8:2184:51457:28618,LH00995:25:23T55JLT4:8:2318:33247:3634,LH00995:25:23T55JLT4:8:2374:48246:27932 . YES_LDAS 0.0577 GT 1.9329 AG 1.9656 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr16:0.60Mb]""]" chr16:30193358-chr16:29548658 True pair|recurrent breakpoints 0 Blacklisted FAIL 17 AL033504.1--SASH1 17 0 17.0 0.0 ONLY_REF_SPLICE AL033504.1^ENSG00000227681.5 chr6:147947519:+ SASH1^ENSG00000111961.18 chr6:148390134:+ LH00995:25:23T55JLT4:2:1130:15077:11733,LH00995:25:23T55JLT4:5:1178:9778:2443,LH00995:25:23T55JLT4:5:1296:35010:14956,LH00995:25:23T55JLT4:5:1330:27220:24302,LH00995:25:23T55JLT4:5:1473:36280:17268,LH00995:25:23T55JLT4:5:2202:16436:2149,LH00995:25:23T55JLT4:5:2350:24688:19580,LH00995:25:23T55JLT4:5:2363:47105:5694,LH00995:25:23T55JLT4:6:1288:32883:3116,LH00995:25:23T55JLT4:6:2169:7699:9071,LH00995:25:23T55JLT4:6:2382:34290:23798,LH00995:25:23T55JLT4:8:1184:18224:15531,LH00995:25:23T55JLT4:8:1255:4948:15180,LH00995:25:23T55JLT4:8:1258:6792:27287,LH00995:25:23T55JLT4:8:1280:14373:6591,LH00995:25:23T55JLT4:8:2418:22341:7726,LH00995:25:23T55JLT4:8:2471:26055:6114 . YES_LDAS 0.0577 GT 1.5329 AG 1.9219 "[""TCGA_StarF2019"",""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr6:0.32Mb]""]" chr6:147947519-chr6:148390134 False 1 PASS 17 AC104123.1--CAST 17 0 17.0 0.0 ONLY_REF_SPLICE AC104123.1^ENSG00000251314.2 chr5:96379652:+ CAST^ENSG00000153113.24 chr5:96675539:+ LH00995:25:23T55JLT4:5:1355:17536:20954,LH00995:25:23T55JLT4:5:1365:2529:12728,LH00995:25:23T55JLT4:5:1494:5344:16680,LH00995:25:23T55JLT4:5:2162:2214:15825,LH00995:25:23T55JLT4:5:2184:16565:17086,LH00995:25:23T55JLT4:5:2190:28102:24765,LH00995:25:23T55JLT4:5:2365:36208:29305,LH00995:25:23T55JLT4:6:1195:2408:29361,LH00995:25:23T55JLT4:6:1287:18539:7278,LH00995:25:23T55JLT4:6:1289:31661:3074,LH00995:25:23T55JLT4:6:1378:42575:17268,LH00995:25:23T55JLT4:6:1423:19494:9183,LH00995:25:23T55JLT4:6:2415:45811:20491,LH00995:25:23T55JLT4:8:1122:13321:13737,LH00995:25:23T55JLT4:8:1207:11744:6969,LH00995:25:23T55JLT4:8:1210:47364:26068,LH00995:25:23T55JLT4:8:2291:27236:26320 . YES_LDAS 0.0577 GT 1.7819 AG 1.8295 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr5:0.11Mb]""]" chr5:96379652-chr5:96675539 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 17 PKNOX2--MEIS3 16 0 16.0 0.0 ONLY_REF_SPLICE PKNOX2^ENSG00000165495.16 chr11:125385722:+ MEIS3^ENSG00000105419.18 chr19:47417350:- LH00995:25:23T55JLT4:5:1109:44524:16778,LH00995:25:23T55JLT4:5:1310:14082:25311,LH00995:25:23T55JLT4:5:1498:7051:8398,LH00995:25:23T55JLT4:5:2109:34994:15321,LH00995:25:23T55JLT4:5:2127:2982:19174,LH00995:25:23T55JLT4:5:2466:16921:11677,LH00995:25:23T55JLT4:6:2247:6307:29501,LH00995:25:23T55JLT4:8:1196:18927:15236,LH00995:25:23T55JLT4:8:1293:11525:6283,LH00995:25:23T55JLT4:8:1420:14308:18053,LH00995:25:23T55JLT4:8:2129:23474:27091,LH00995:25:23T55JLT4:8:2142:48448:2023,LH00995:25:23T55JLT4:8:2185:5854:18403,LH00995:25:23T55JLT4:8:2282:20319:22803,LH00995:25:23T55JLT4:8:2336:35496:17478,LH00995:25:23T55JLT4:8:2484:42558:29095 . NO_LDAS 0.0543 GT 1.9656 AG 1.9656 "[""HGNC_GENEFAM"",""INTERCHROMOSOMAL[chr11--chr19]""]" chr11:125385722-chr19:47417350 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 16 NONO--KAT6A 16 0 16.0 0.0 INCL_NON_REF_SPLICE NONO^ENSG00000147140.17 chrX:71290778:+ KAT6A^ENSG00000083168.11 chr8:41933275:- LH00995:25:23T55JLT4:2:1130:7593:7235,LH00995:25:23T55JLT4:5:1111:43060:21668,LH00995:25:23T55JLT4:5:1181:39751:28660,LH00995:25:23T55JLT4:5:1243:40924:18866,LH00995:25:23T55JLT4:5:1365:27648:8483,LH00995:25:23T55JLT4:5:1388:6760:3830,LH00995:25:23T55JLT4:5:2151:21071:26713,LH00995:25:23T55JLT4:6:1181:27964:23574,LH00995:25:23T55JLT4:6:1222:29226:24302,LH00995:25:23T55JLT4:6:1413:48974:21710,LH00995:25:23T55JLT4:6:2228:9923:18838,LH00995:25:23T55JLT4:6:2319:24841:25199,LH00995:25:23T55JLT4:6:2334:38594:13653,LH00995:25:23T55JLT4:8:1198:12010:19398,LH00995:25:23T55JLT4:8:2214:25755:28156,LH00995:25:23T55JLT4:8:2282:49394:16301 . NO_LDAS 0.0543 GC 1.7819 AG 1.4566 "[""INTERCHROMOSOMAL[chrX--chr8]""]" chrX:71290778-chr8:41933275 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 16 TLR4--AL160272.1 16 1 16.0 1.0 ONLY_REF_SPLICE TLR4^ENSG00000136869.16 chr9:117704565:+ AL160272.1^ENSG00000284977.2 chr9:117848065:+ LH00995:25:23T55JLT4:2:1112:7949:23602,LH00995:25:23T55JLT4:5:1414:45082:21836,LH00995:25:23T55JLT4:5:2168:13701:13891,LH00995:25:23T55JLT4:5:2214:45058:9604,LH00995:25:23T55JLT4:6:1247:16751:28058,LH00995:25:23T55JLT4:6:1272:37866:4994,LH00995:25:23T55JLT4:6:1326:5741:20617,LH00995:25:23T55JLT4:6:2195:51126:9043,LH00995:25:23T55JLT4:8:1134:33328:12154,LH00995:25:23T55JLT4:8:1320:47162:12630,LH00995:25:23T55JLT4:8:1359:29533:7908,LH00995:25:23T55JLT4:8:1442:48804:17240,LH00995:25:23T55JLT4:8:1444:12294:25998,LH00995:25:23T55JLT4:8:1469:21096:2990,LH00995:25:23T55JLT4:8:2130:7181:22523,LH00995:25:23T55JLT4:8:2257:37559:25479 LH00995:25:23T55JLT4:5:1151:47501:18515 YES_LDAS 0.0577 GT 1.7968 AG 1.8892 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr9:0.03Mb]"",""NEIGHBORS[34720]""]" chr9:117704565-chr9:117848065 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 17 AP001347.1--ANKRD20A11P 16 1 16.0 0.53 ONLY_REF_SPLICE AP001347.1^ENSG00000224905.7 chr21:14027597:+ ANKRD20A11P^ENSG00000215559.8 chr21:13970110:- LH00995:25:23T55JLT4:5:1260:30440:20267,LH00995:25:23T55JLT4:5:1268:49726:5554,LH00995:25:23T55JLT4:5:1284:38942:14396,LH00995:25:23T55JLT4:5:1445:31855:22327,LH00995:25:23T55JLT4:5:2171:44209:12784,LH00995:25:23T55JLT4:5:2349:51563:7137,LH00995:25:23T55JLT4:5:2371:46620:27777,LH00995:25:23T55JLT4:6:1103:28959:11285,LH00995:25:23T55JLT4:6:1213:43464:14017,LH00995:25:23T55JLT4:6:1420:33061:25479,LH00995:25:23T55JLT4:6:2159:36645:20729,LH00995:25:23T55JLT4:6:2198:41442:17913,LH00995:25:23T55JLT4:6:2438:4754:14676,LH00995:25:23T55JLT4:8:1260:44751:9772,LH00995:25:23T55JLT4:8:1458:44379:15096,LH00995:25:23T55JLT4:8:2332:31281:12140 LH00995:25:23T55JLT4:8:2468:49168:26783 YES_LDAS 0.0561 GT 1.8323 AG 1.8892 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr21:0.05Mb]"",""LOCAL_INVERSION:+:-:[46982]""]" chr21:14027597-chr21:13970110 False 0 Excluded annotation pattern: GTEx_recurrent_StarF2019 FAIL 17 AC242842.1--SEC22B2P 15 1 2.5 0.17 ONLY_REF_SPLICE AC242842.1^ENSG00000275557.1 chr1:149608516:+ SEC22B2P^ENSG00000274423.1 chr1:149351251:+ LH00995:25:23T55JLT4:5:1173:9689:13107,LH00995:25:23T55JLT4:5:1308:31321:25073,LH00995:25:23T55JLT4:5:1484:44322:23181,LH00995:25:23T55JLT4:5:2178:32066:17142,LH00995:25:23T55JLT4:5:2267:33659:13401,LH00995:25:23T55JLT4:6:1185:5433:25970,LH00995:25:23T55JLT4:6:2189:28344:15096,LH00995:25:23T55JLT4:6:2304:27835:21948,LH00995:25:23T55JLT4:8:1134:1324:16638,LH00995:25:23T55JLT4:8:1235:30763:17408,LH00995:25:23T55JLT4:8:1407:23935:27918,LH00995:25:23T55JLT4:8:2204:44621:19132,LH00995:25:23T55JLT4:8:2226:11468:6633,LH00995:25:23T55JLT4:8:2291:20376:23322,LH00995:25:23T55JLT4:8:2378:15513:16582 LH00995:25:23T55JLT4:6:2185:51805:5652 YES_LDAS 0.0091 GT 1.7819 AG 1.9086 "[""INTRACHROMOSOMAL[chr1:0.25Mb]""]" chr1:149608516-chr1:149351251 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 16 PLCXD1--IGH@-ext 14 0 14.0 0.0 INCL_NON_REF_SPLICE PLCXD1^ENSG00000182378.15 chrX:293089:+ IGH@-ext^IGH.g@-ext chr14:105743073:- LH00995:25:23T55JLT4:2:1165:46069:4377,LH00995:25:23T55JLT4:5:1187:28846:17114,LH00995:25:23T55JLT4:5:1236:46951:4895,LH00995:25:23T55JLT4:5:1241:11064:9828,LH00995:25:23T55JLT4:5:1251:31289:21178,LH00995:25:23T55JLT4:5:1385:6639:19258,LH00995:25:23T55JLT4:5:1434:34468:14270,LH00995:25:23T55JLT4:5:2184:16282:25031,LH00995:25:23T55JLT4:5:2409:24518:26488,LH00995:25:23T55JLT4:6:1143:25302:21038,LH00995:25:23T55JLT4:6:1339:6356:15965,LH00995:25:23T55JLT4:6:2477:41159:17955,LH00995:25:23T55JLT4:8:1209:13256:18641,LH00995:25:23T55JLT4:8:2430:28999:17885 . NO_LDAS 0.0475 AT 1.9086 TG 1.7465 "[""INTERCHROMOSOMAL[chrX--chr14]""]" chrX:293089-chr14:105743073 True pair|recurrent breakpoints 0 Blacklisted FAIL 14 TRIO--TMEM123 12 0 12.0 0.0 ONLY_REF_SPLICE TRIO^ENSG00000038382.20 chr5:14143882:+ TMEM123^ENSG00000152558.15 chr11:102448868:- LH00995:25:23T55JLT4:5:1277:12609:3088,LH00995:25:23T55JLT4:5:1279:42251:3648,LH00995:25:23T55JLT4:5:1478:1154:24779,LH00995:25:23T55JLT4:5:2107:27697:3410,LH00995:25:23T55JLT4:6:1141:4673:10192,LH00995:25:23T55JLT4:6:2214:38643:26180,LH00995:25:23T55JLT4:6:2228:50341:12308,LH00995:25:23T55JLT4:6:2261:15732:15279,LH00995:25:23T55JLT4:8:1152:33481:24330,LH00995:25:23T55JLT4:8:1342:12010:12392,LH00995:25:23T55JLT4:8:1447:36717:18249,LH00995:25:23T55JLT4:8:2185:17123:2527 . YES_LDAS 0.0407 GT 1.6895 AG 1.8892 "[""INTERCHROMOSOMAL[chr5--chr11]""]" chr5:14143882-chr11:102448868 False 1 PASS 12 LEPROTL1--SMG1P1 12 0 4.0 0.0 ONLY_REF_SPLICE LEPROTL1^ENSG00000104660.19 chr8:30104991:+ SMG1P1^ENSG00000237296.9 chr16:22451620:+ LH00995:25:23T55JLT4:2:1150:23126:29067,LH00995:25:23T55JLT4:5:1252:32138:13877,LH00995:25:23T55JLT4:5:1302:27576:14045,LH00995:25:23T55JLT4:5:2216:24097:12700,LH00995:25:23T55JLT4:5:2259:28271:4237,LH00995:25:23T55JLT4:5:2311:26742:8847,LH00995:25:23T55JLT4:6:1145:50940:2752,LH00995:25:23T55JLT4:6:1152:13637:4027,LH00995:25:23T55JLT4:6:2264:39330:18571,LH00995:25:23T55JLT4:6:2271:32462:20491,LH00995:25:23T55JLT4:8:1135:31556:2219,LH00995:25:23T55JLT4:8:1492:26443:8160 . YES_LDAS 0.0136 GC 1.8892 AG 1.9656 "[""INTERCHROMOSOMAL[chr8--chr16]""]" chr8:30104991-chr16:22451620 True pair|recurrent breakpoints 0 Blacklisted FAIL 12 HRH1--ATG7 12 0 12.0 0.0 ONLY_REF_SPLICE HRH1^ENSG00000196639.7 chr3:11154554:+ ATG7^ENSG00000197548.12 chr3:11298686:+ LH00995:25:23T55JLT4:2:1163:17496:6227,LH00995:25:23T55JLT4:5:1352:45624:26474,LH00995:25:23T55JLT4:5:1484:15028:19748,LH00995:25:23T55JLT4:5:2134:18758:15082,LH00995:25:23T55JLT4:5:2336:30407:1462,LH00995:25:23T55JLT4:5:2408:28150:8763,LH00995:25:23T55JLT4:6:1164:36742:29669,LH00995:25:23T55JLT4:6:1192:17698:29669,LH00995:25:23T55JLT4:6:1350:22414:3957,LH00995:25:23T55JLT4:8:2214:40277:16596,LH00995:25:23T55JLT4:8:2460:1752:3704,LH00995:25:23T55JLT4:8:2481:47242:26783 . YES_LDAS 0.0407 GT 1.2867 AG 1.7968 "[""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr3:0.01Mb]"",""NEIGHBORS[8752]""]" chr3:11154554-chr3:11298686 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 12 GNG10--UGCG 12 0 11.92 0.0 ONLY_REF_SPLICE GNG10^ENSG00000242616.4 chr9:111666946:+ UGCG^ENSG00000148154.10 chr9:111914605:+ LH00995:25:23T55JLT4:5:1432:40439:19146,LH00995:25:23T55JLT4:6:1112:38667:26951,LH00995:25:23T55JLT4:6:1271:46984:17254,LH00995:25:23T55JLT4:6:2255:34662:12952,LH00995:25:23T55JLT4:6:2352:26467:16610,LH00995:25:23T55JLT4:8:1105:21718:29123,LH00995:25:23T55JLT4:8:1135:23935:9001,LH00995:25:23T55JLT4:8:1146:28991:8174,LH00995:25:23T55JLT4:8:1308:25966:20365,LH00995:25:23T55JLT4:8:2112:13386:15391,LH00995:25:23T55JLT4:8:2428:8774:28450,LH00995:25:23T55JLT4:8:2441:18046:18501 . YES_LDAS 0.0405 GT 1.9329 AG 1.7819 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr9:0.23Mb]""]" chr9:111666946-chr9:111914605 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 12 EWSR1--IGH@-ext 12 0 12.0 0.0 INCL_NON_REF_SPLICE EWSR1^ENSG00000182944.18 chr22:29287118:+ IGH@-ext^IGH.g@-ext chr14:106679373:- LH00995:25:23T55JLT4:5:1118:2165:20449,LH00995:25:23T55JLT4:5:1148:3605:10556,LH00995:25:23T55JLT4:5:1189:35269:21598,LH00995:25:23T55JLT4:5:1284:43853:21780,LH00995:25:23T55JLT4:5:2204:16088:9253,LH00995:25:23T55JLT4:5:2488:10069:8384,LH00995:25:23T55JLT4:6:1430:38853:7684,LH00995:25:23T55JLT4:6:1495:22665:7221,LH00995:25:23T55JLT4:6:2141:48270:26012,LH00995:25:23T55JLT4:6:2150:13345:9604,LH00995:25:23T55JLT4:8:2375:43521:11173,LH00995:25:23T55JLT4:8:2380:13451:24162 . NO_LDAS 0.0407 AG 1.5656 TC 1.7465 "[""INTERCHROMOSOMAL[chr22--chr14]""]" chr22:29287118-chr14:106679373 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 12 TPTE--BAGE2 11 0 11.0 0.0 ONLY_REF_SPLICE TPTE^ENSG00000274391.5 chr21:10527412:+ BAGE2^ENSG00000187172.15 chr21:10514122:+ LH00995:25:23T55JLT4:5:1313:5975:28674,LH00995:25:23T55JLT4:5:1411:34072:21290,LH00995:25:23T55JLT4:5:2466:51385:25690,LH00995:25:23T55JLT4:6:1339:10085:21472,LH00995:25:23T55JLT4:6:1446:17698:11425,LH00995:25:23T55JLT4:6:2302:11242:23896,LH00995:25:23T55JLT4:6:2314:41110:27091,LH00995:25:23T55JLT4:8:1141:41766:11691,LH00995:25:23T55JLT4:8:1254:41668:9562,LH00995:25:23T55JLT4:8:1283:49152:13107,LH00995:25:23T55JLT4:8:2493:5741:27147 . YES_LDAS 0.0373 GT 1.9656 AG 1.7819 "[""INTRACHROMOSOMAL[chr21:0.01Mb]"",""LOCAL_REARRANGEMENT:+:[5122]""]" chr21:10527412-chr21:10514122 False 1 PASS 11 TMEM123--PPP2R2C 11 0 11.0 0.0 ONLY_REF_SPLICE TMEM123^ENSG00000152558.15 chr11:102448812:- PPP2R2C^ENSG00000074211.14 chr4:6381094:- LH00995:25:23T55JLT4:2:1162:46684:8188,LH00995:25:23T55JLT4:5:1231:34145:14858,LH00995:25:23T55JLT4:5:2432:32543:20491,LH00995:25:23T55JLT4:6:2156:39832:12518,LH00995:25:23T55JLT4:6:2174:51918:18403,LH00995:25:23T55JLT4:6:2304:49767:3074,LH00995:25:23T55JLT4:6:2373:18927:12995,LH00995:25:23T55JLT4:8:1236:38060:21220,LH00995:25:23T55JLT4:8:1248:25772:9351,LH00995:25:23T55JLT4:8:1259:37801:9898,LH00995:25:23T55JLT4:8:2206:33061:25816 . YES_LDAS 0.0373 GT 1.9656 AG 1.8256 "[""INTERCHROMOSOMAL[chr11--chr4]""]" chr11:102448812-chr4:6381094 False 1 PASS 11 PRKCA--ZNF585A 11 0 11.0 0.0 INCL_NON_REF_SPLICE PRKCA^ENSG00000154229.12 chr17:66496283:+ ZNF585A^ENSG00000196967.11 chr19:37146612:- LH00995:25:23T55JLT4:5:1170:13175:27217,LH00995:25:23T55JLT4:5:1305:4349:20253,LH00995:25:23T55JLT4:5:1484:13386:9393,LH00995:25:23T55JLT4:5:2398:26605:2752,LH00995:25:23T55JLT4:5:2423:7415:24499,LH00995:25:23T55JLT4:6:1283:18992:27315,LH00995:25:23T55JLT4:6:2163:15538:9169,LH00995:25:23T55JLT4:6:2223:7302:7432,LH00995:25:23T55JLT4:8:1151:38068:18936,LH00995:25:23T55JLT4:8:2108:45552:14410,LH00995:25:23T55JLT4:8:2312:27681:1645 . NO_LDAS 0.0373 GT 1.9329 AG 1.5656 "[""INTERCHROMOSOMAL[chr17--chr19]""]" chr17:66496283-chr19:37146612 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 11 FUS--CTNNA1 11 0 11.0 0.0 INCL_NON_REF_SPLICE FUS^ENSG00000089280.19 chr16:31184352:+ CTNNA1^ENSG00000044115.21 chr5:138934073:+ LH00995:25:23T55JLT4:2:1157:43092:12728,LH00995:25:23T55JLT4:5:1164:20117:27049,LH00995:25:23T55JLT4:5:1287:25424:17661,LH00995:25:23T55JLT4:5:1378:8338:16007,LH00995:25:23T55JLT4:5:2171:43602:28240,LH00995:25:23T55JLT4:5:2455:43230:15349,LH00995:25:23T55JLT4:5:2466:47906:4811,LH00995:25:23T55JLT4:6:1311:17520:10080,LH00995:25:23T55JLT4:6:1421:26839:7782,LH00995:25:23T55JLT4:8:1179:26128:8146,LH00995:25:23T55JLT4:8:2254:13224:4937 . NO_LDAS 0.0373 GT 1.8062 AG 1.9899 "[""INTERCHROMOSOMAL[chr16--chr5]""]" chr16:31184352-chr5:138934073 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 11 C6orf62--ACOT13 11 0 11.0 0.0 ONLY_REF_SPLICE C6orf62^ENSG00000112308.13 chr6:24714318:- ACOT13^ENSG00000112304.11 chr6:24701459:+ LH00995:25:23T55JLT4:2:1130:30059:4279,LH00995:25:23T55JLT4:2:1164:44718:13079,LH00995:25:23T55JLT4:5:1193:6275:13191,LH00995:25:23T55JLT4:5:1412:18976:22046,LH00995:25:23T55JLT4:5:2323:37526:1743,LH00995:25:23T55JLT4:5:2413:13305:17969,LH00995:25:23T55JLT4:6:1435:7108:2948,LH00995:25:23T55JLT4:6:1453:9308:10823,LH00995:25:23T55JLT4:8:1338:17916:21976,LH00995:25:23T55JLT4:8:1416:38036:16385,LH00995:25:23T55JLT4:8:2344:39759:3228 . YES_LDAS 0.0373 GT 1.8892 AG 1.9656 "[""INTRACHROMOSOMAL[chr6:0.00Mb]"",""NEIGHBORS_OVERLAP:-:+:[204]""]" chr6:24714318-chr6:24701459 False 1 PASS 11 AL390860.1--TRIM58 11 0 11.0 0.0 ONLY_REF_SPLICE AL390860.1^ENSG00000235749.3 chr1:247640429:+ TRIM58^ENSG00000162722.9 chr1:247860617:+ LH00995:25:23T55JLT4:2:1127:52007:1210,LH00995:25:23T55JLT4:2:1167:2448:21108,LH00995:25:23T55JLT4:5:1244:12868:17436,LH00995:25:23T55JLT4:5:2320:19720:27792,LH00995:25:23T55JLT4:6:1158:16792:3298,LH00995:25:23T55JLT4:6:2373:19736:7390,LH00995:25:23T55JLT4:8:1125:1202:6086,LH00995:25:23T55JLT4:8:1351:11557:18669,LH00995:25:23T55JLT4:8:1396:39104:23420,LH00995:25:23T55JLT4:8:2196:43464:11299,LH00995:25:23T55JLT4:8:2376:22107:2471 . YES_LDAS 0.0373 GT 1.9219 AG 1.9656 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr1:0.10Mb]"",""NEIGHBORS[95932]""]" chr1:247640429-chr1:247860617 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 11 YWHAE--CRK 10 0 10.0 0.0 ONLY_REF_SPLICE YWHAE^ENSG00000108953.17 chr17:1400047:- CRK^ENSG00000167193.8 chr17:1437155:- LH00995:25:23T55JLT4:5:1253:1930:29179,LH00995:25:23T55JLT4:5:1380:36256:16133,LH00995:25:23T55JLT4:5:2143:47016:29697,LH00995:25:23T55JLT4:5:2215:42429:26348,LH00995:25:23T55JLT4:6:1278:1680:29473,LH00995:25:23T55JLT4:6:1338:29760:3985,LH00995:25:23T55JLT4:6:1402:19656:19384,LH00995:25:23T55JLT4:6:2229:7448:23686,LH00995:25:23T55JLT4:8:1351:26395:2836,LH00995:25:23T55JLT4:8:2218:39250:16918 . YES_LDAS 0.0339 GT 1.9329 AG 1.8323 "[""DEEPEST2019"",""INTRACHROMOSOMAL[chr17:0.02Mb]"",""LOCAL_REARRANGEMENT:-:[20467]""]" chr17:1400047-chr17:1437155 True pair|recurrent breakpoints 0 Blacklisted FAIL 10 TMED3--MINAR1 10 0 10.0 0.0 ONLY_REF_SPLICE TMED3^ENSG00000166557.14 chr15:79314005:+ MINAR1^ENSG00000169330.9 chr15:79456098:+ LH00995:25:23T55JLT4:5:1476:43141:10935,LH00995:25:23T55JLT4:5:2207:28093:4853,LH00995:25:23T55JLT4:5:2326:3573:20645,LH00995:25:23T55JLT4:6:1198:7610:19426,LH00995:25:23T55JLT4:6:2261:36005:3116,LH00995:25:23T55JLT4:6:2415:50972:21192,LH00995:25:23T55JLT4:6:2454:20149:13905,LH00995:25:23T55JLT4:6:2488:33554:13331,LH00995:25:23T55JLT4:8:1230:37923:13219,LH00995:25:23T55JLT4:8:1297:20173:28352 . YES_LDAS 0.0339 GT 1.7968 AG 1.9656 "[""INTRACHROMOSOMAL[chr15:0.00Mb]"",""NEIGHBORS[4904]""]" chr15:79314005-chr15:79456098 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 10 RBM14--RBM4 10 0 10.0 0.0 ONLY_REF_SPLICE RBM14^ENSG00000239306.5 chr11:66617057:+ RBM4^ENSG00000173933.21 chr11:66639700:+ LH00995:25:23T55JLT4:5:1396:42793:21066,LH00995:25:23T55JLT4:5:1454:16630:9351,LH00995:25:23T55JLT4:5:2353:42841:18515,LH00995:25:23T55JLT4:5:2420:24024:1729,LH00995:25:23T55JLT4:6:2402:30723:27231,LH00995:25:23T55JLT4:8:1171:20618:21612,LH00995:25:23T55JLT4:8:1210:6501:13863,LH00995:25:23T55JLT4:8:2106:3289:4293,LH00995:25:23T55JLT4:8:2192:30553:14270,LH00995:25:23T55JLT4:8:2474:10417:10192 . YES_LDAS 0.0339 GT 1.7465 AG 1.9086 "[""HGNC_GENEFAM"",""Greger_Normal"",""INTRACHROMOSOMAL[chr11:0.01Mb]"",""NEIGHBORS[8733]""]" chr11:66617057-chr11:66639700 True pair|recurrent breakpoints 0 Blacklisted FAIL 10 NSF--LRRC37A3 10 0 10.0 0.0 ONLY_REF_SPLICE NSF^ENSG00000073969.18 chr17:46704854:+ LRRC37A3^ENSG00000176809.10 chr17:64892600:- LH00995:25:23T55JLT4:5:1493:35989:11467,LH00995:25:23T55JLT4:5:2243:34800:26867,LH00995:25:23T55JLT4:5:2311:8087:7866,LH00995:25:23T55JLT4:6:1458:23239:11215,LH00995:25:23T55JLT4:6:2255:7270:18389,LH00995:25:23T55JLT4:6:2364:29064:7824,LH00995:25:23T55JLT4:8:1363:10805:3130,LH00995:25:23T55JLT4:8:2196:24283:5036,LH00995:25:23T55JLT4:8:2273:42850:29571,LH00995:25:23T55JLT4:8:2367:49799:14508 . YES_LDAS 0.0339 GT 1.6729 AG 1.7232 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr17:18.10Mb]""]" chr17:46704854-chr17:64892600 True pair|recurrent breakpoints 0 Blacklisted FAIL 10 LILRA5--LILRB1 10 0 10.0 0.0 ONLY_REF_SPLICE LILRA5^ENSG00000187116.14 chr19:54312335:- LILRB1^ENSG00000104972.15 chr19:54631500:+ LH00995:25:23T55JLT4:5:1277:25885:26138,LH00995:25:23T55JLT4:5:1376:10190:11565,LH00995:25:23T55JLT4:5:1473:46878:24583,LH00995:25:23T55JLT4:5:2183:29582:7207,LH00995:25:23T55JLT4:5:2189:29477:19945,LH00995:25:23T55JLT4:6:1143:4560:22663,LH00995:25:23T55JLT4:8:1164:1461:3116,LH00995:25:23T55JLT4:8:1255:37065:18291,LH00995:25:23T55JLT4:8:2235:7707:17044,LH00995:25:23T55JLT4:8:2250:3152:15180 . YES_LDAS 0.0339 GT 1.7819 AG 1.6729 "[""DGD_PARALOGS"",""HGNC_GENEFAM"",""INTRACHROMOSOMAL[chr19:0.30Mb]""]" chr19:54312335-chr19:54631500 True pair|recurrent breakpoints 0 Blacklisted FAIL 10 LDLRAD3--PRR5L 10 0 10.0 0.0 INCL_NON_REF_SPLICE LDLRAD3^ENSG00000179241.13 chr11:36098461:+ PRR5L^ENSG00000135362.14 chr11:36296290:+ LH00995:25:23T55JLT4:2:1107:26556:27834,LH00995:25:23T55JLT4:5:1246:14915:25914,LH00995:25:23T55JLT4:5:1433:13580:7740,LH00995:25:23T55JLT4:5:2103:16897:15699,LH00995:25:23T55JLT4:5:2170:51239:26951,LH00995:25:23T55JLT4:5:2294:49176:1911,LH00995:25:23T55JLT4:5:2424:25852:26306,LH00995:25:23T55JLT4:6:1167:29428:21710,LH00995:25:23T55JLT4:6:1283:16379:26264,LH00995:25:23T55JLT4:8:1165:1526:6199 . YES_LDAS 0.0339 GT 1.9329 AG 1.8892 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr11:0.06Mb]"",""NEIGHBORS[64152]""]" chr11:36098461-chr11:36296290 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 10 TMEM123--WTAPP1 9 0 9.0 0.0 ONLY_REF_SPLICE TMEM123^ENSG00000152558.15 chr11:102448812:- WTAPP1^ENSG00000255282.6 chr11:102798024:+ LH00995:25:23T55JLT4:5:1132:23280:22046,LH00995:25:23T55JLT4:5:2228:47817:24863,LH00995:25:23T55JLT4:6:1120:31151:19090,LH00995:25:23T55JLT4:6:1208:7763:22495,LH00995:25:23T55JLT4:6:1223:41571:21164,LH00995:25:23T55JLT4:6:1484:22940:19468,LH00995:25:23T55JLT4:8:1388:17876:16442,LH00995:25:23T55JLT4:8:2436:16379:17184,LH00995:25:23T55JLT4:8:2482:10150:22537 . YES_LDAS 0.0305 GT 1.9656 AG 1.9219 "[""INTRACHROMOSOMAL[chr11:0.28Mb]""]" chr11:102448812-chr11:102798024 False 1 PASS 9 HLA-B--HLA-V 9 0 4.5 0.0 ONLY_REF_SPLICE HLA-B^ENSG00000234745.13 chr6:31357086:- HLA-V^ENSG00000181126.13 chr6:29792437:+ LH00995:25:23T55JLT4:5:1177:48755:28814,LH00995:25:23T55JLT4:6:1173:32883:19538,LH00995:25:23T55JLT4:6:1286:19931:28324,LH00995:25:23T55JLT4:6:2132:18199:17086,LH00995:25:23T55JLT4:6:2149:37721:1575,LH00995:25:23T55JLT4:6:2186:20837:5176,LH00995:25:23T55JLT4:6:2290:10247:7488,LH00995:25:23T55JLT4:8:1125:20780:14101,LH00995:25:23T55JLT4:8:1371:32713:21626 . YES_LDAS 0.0153 GT 1.7056 AG 1.8323 "[""HGNC_GENEFAM"",""INTRACHROMOSOMAL[chr6:1.56Mb]""]" chr6:31357086-chr6:29792437 True "pair|MHC complexes|HLA-V HLA-B; pair|recurrent breakpoints" aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 9 FBXO25--SEPTIN14 9 0 9.0 0.0 ONLY_REF_SPLICE FBXO25^ENSG00000147364.17 chr8:435707:+ SEPTIN14^ENSG00000154997.9 chr7:55796092:- LH00995:25:23T55JLT4:5:1103:18232:9968,LH00995:25:23T55JLT4:5:1194:51797:10150,LH00995:25:23T55JLT4:5:1338:3985:24863,LH00995:25:23T55JLT4:5:2357:14308:7095,LH00995:25:23T55JLT4:6:1271:37567:6128,LH00995:25:23T55JLT4:8:1215:12650:19160,LH00995:25:23T55JLT4:8:1229:1493:29151,LH00995:25:23T55JLT4:8:1309:14243:28142,LH00995:25:23T55JLT4:8:1408:18636:2625 . YES_LDAS 0.0305 GT 1.7819 AG 1.9899 "[""INTERCHROMOSOMAL[chr8--chr7]""]" chr8:435707-chr7:55796092 True aih_curated_blacklist score(6) 0 aih_curated_blacklist score(6) FAIL 9 DDX24--AL022099.1 9 0 9.0 0.0 INCL_NON_REF_SPLICE DDX24^ENSG00000089737.17 chr14:94051188:- AL022099.1^ENSG00000271162.1 chr6:48952713:- LH00995:25:23T55JLT4:5:1211:28449:16960,LH00995:25:23T55JLT4:5:2142:13370:25984,LH00995:25:23T55JLT4:6:1191:25011:8959,LH00995:25:23T55JLT4:6:1481:36070:16456,LH00995:25:23T55JLT4:6:2193:34695:13625,LH00995:25:23T55JLT4:8:2272:42032:25297,LH00995:25:23T55JLT4:8:2287:33862:1589,LH00995:25:23T55JLT4:8:2362:26281:8048,LH00995:25:23T55JLT4:8:2430:48189:26965 . NO_LDAS 0.0305 GT 1.8892 AG 1.8323 "[""INTERCHROMOSOMAL[chr14--chr6]""]" chr14:94051188-chr6:48952713 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 9 C1QC--IGL-@-ext 9 0 3.0 0.0 INCL_NON_REF_SPLICE C1QC^ENSG00000159189.12 chr1:22647462:+ IGL-@-ext^IGL-.g@-ext chr22:22661133:- LH00995:25:23T55JLT4:5:1366:45260:4181,LH00995:25:23T55JLT4:5:1480:47687:15054,LH00995:25:23T55JLT4:5:2278:7965:8861,LH00995:25:23T55JLT4:5:2355:24647:5274,LH00995:25:23T55JLT4:6:2296:16557:9982,LH00995:25:23T55JLT4:8:1163:1712:10949,LH00995:25:23T55JLT4:8:1217:8087:14144,LH00995:25:23T55JLT4:8:1286:25286:8987,LH00995:25:23T55JLT4:8:1358:49297:4335 . NO_LDAS 0.0102 TT 1.8892 GC 1.4256 "[""INTERCHROMOSOMAL[chr1--chr22]""]" chr1:22647462-chr22:22661133 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 9 AGAP5--AC022400.4 9 1 9.0 0.6 INCL_NON_REF_SPLICE AGAP5^ENSG00000172650.14 chr10:73692043:- AC022400.4^ENSG00000272140.2 chr10:73713332:- LH00995:25:23T55JLT4:5:1398:3807:2331,LH00995:25:23T55JLT4:5:1490:46086:28814,LH00995:25:23T55JLT4:5:2337:16565:3270,LH00995:25:23T55JLT4:5:2431:30666:11944,LH00995:25:23T55JLT4:6:1163:2553:17647,LH00995:25:23T55JLT4:6:1452:12083:26867,LH00995:25:23T55JLT4:6:2213:30415:5792,LH00995:25:23T55JLT4:8:1246:49047:23350,LH00995:25:23T55JLT4:8:2417:1348:21052 LH00995:25:23T55JLT4:5:1217:37656:10570 YES_LDAS 0.0325 GT 1.7465 AG 1.9086 "[""INTRACHROMOSOMAL[chr10:0.01Mb]"",""LOCAL_REARRANGEMENT:-:[5854]""]" chr10:73692043-chr10:73713332 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 10 STEAP1--RAPGEF5 8 0 4.0 0.0 ONLY_REF_SPLICE STEAP1^ENSG00000164647.9 chr7:90162078:+ RAPGEF5^ENSG00000136237.19 chr7:22318037:- LH00995:25:23T55JLT4:2:1146:19453:10654,LH00995:25:23T55JLT4:5:1482:38028:5778,LH00995:25:23T55JLT4:6:1178:25052:18137,LH00995:25:23T55JLT4:6:1367:31653:11187,LH00995:25:23T55JLT4:6:2206:38052:24344,LH00995:25:23T55JLT4:6:2318:22527:13401,LH00995:25:23T55JLT4:6:2368:47809:20505,LH00995:25:23T55JLT4:8:2146:31240:23420 . YES_LDAS 0.0136 GT 1.7465 AG 1.8295 "[""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr7:67.80Mb]""]" chr7:90162078-chr7:22318037 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 8 PICALM--SYTL2 8 0 8.0 0.0 ONLY_REF_SPLICE PICALM^ENSG00000073921.18 chr11:85974708:- SYTL2^ENSG00000137501.17 chr11:85758114:- LH00995:25:23T55JLT4:5:1142:7868:9113,LH00995:25:23T55JLT4:5:2138:51927:1266,LH00995:25:23T55JLT4:5:2430:29218:27904,LH00995:25:23T55JLT4:6:1126:29679:6619,LH00995:25:23T55JLT4:6:1217:48302:23686,LH00995:25:23T55JLT4:6:1482:3395:1196,LH00995:25:23T55JLT4:6:2134:13750:9043,LH00995:25:23T55JLT4:8:2413:17196:27147 . YES_LDAS 0.0272 GT 1.9086 AG 1.8323 "[""INTRACHROMOSOMAL[chr11:0.15Mb]""]" chr11:85974708-chr11:85758114 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 8 MYH6--MYH9 8 0 8.0 0.0 ONLY_REF_SPLICE MYH6^ENSG00000197616.13 chr14:23404296:- MYH9^ENSG00000100345.22 chr22:36321821:- LH00995:25:23T55JLT4:6:1235:9406:16484,LH00995:25:23T55JLT4:6:1483:8580:4545,LH00995:25:23T55JLT4:6:2170:37445:28702,LH00995:25:23T55JLT4:8:1360:7779:22831,LH00995:25:23T55JLT4:8:1433:40334:10640,LH00995:25:23T55JLT4:8:2275:36960:12056,LH00995:25:23T55JLT4:8:2428:32446:20575,LH00995:25:23T55JLT4:8:2465:18345:24709 . NO_LDAS 0.0272 GT 1.6895 AG 1.9899 "[""HGNC_GENEFAM"",""INTERCHROMOSOMAL[chr14--chr22]""]" chr14:23404296-chr22:36321821 False 0 Excluded annotation pattern: HGNC_GENEFAM FAIL 8 MAP3K20--RAPGEF4 8 0 8.0 0.0 ONLY_REF_SPLICE MAP3K20^ENSG00000091436.17 chr2:173091190:+ RAPGEF4^ENSG00000091428.18 chr2:172917802:+ LH00995:25:23T55JLT4:2:1112:18280:27848,LH00995:25:23T55JLT4:5:2441:40342:7824,LH00995:25:23T55JLT4:5:2468:50487:15335,LH00995:25:23T55JLT4:6:1297:14793:29347,LH00995:25:23T55JLT4:6:1386:1574:27357,LH00995:25:23T55JLT4:6:2114:30205:3578,LH00995:25:23T55JLT4:6:2152:16881:5974,LH00995:25:23T55JLT4:8:1157:42720:9646 . YES_LDAS 0.0272 GT 1.1589 AG 1.7968 "[""DEEPEST2019"",""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr2:0.02Mb]"",""LOCAL_REARRANGEMENT:+:[22542]""]" chr2:173091190-chr2:172917802 False 1 PASS 8 HIC2--PI4KA 8 0 8.0 0.0 ONLY_REF_SPLICE HIC2^ENSG00000169635.10 chr22:21442857:+ PI4KA^ENSG00000241973.11 chr22:20733843:- LH00995:25:23T55JLT4:5:2285:9616:20911,LH00995:25:23T55JLT4:5:2310:15489:7992,LH00995:25:23T55JLT4:5:2487:34420:24190,LH00995:25:23T55JLT4:6:1273:24995:27707,LH00995:25:23T55JLT4:6:2329:42486:5568,LH00995:25:23T55JLT4:6:2358:45576:5708,LH00995:25:23T55JLT4:8:2169:42202:23658,LH00995:25:23T55JLT4:8:2484:5482:10416 . YES_LDAS 0.0272 GT 1.7465 AG 1.7819 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr22:0.56Mb]""]" chr22:21442857-chr22:20733843 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 8 CHCHD10--AC005064.1 8 0 8.0 0.0 INCL_NON_REF_SPLICE CHCHD10^ENSG00000250479.9 chr22:23767834:- AC005064.1^ENSG00000234715.2 chr7:103446122:+ LH00995:25:23T55JLT4:2:1109:14300:17815,LH00995:25:23T55JLT4:5:1133:29380:5568,LH00995:25:23T55JLT4:5:2383:14421:29543,LH00995:25:23T55JLT4:6:1392:41547:27988,LH00995:25:23T55JLT4:6:1438:34258:16371,LH00995:25:23T55JLT4:6:1458:25367:7558,LH00995:25:23T55JLT4:6:2212:31604:18669,LH00995:25:23T55JLT4:8:2204:35520:2836 . NO_LDAS 0.0272 GT 1.6402 AG 1.1589 "[""INTERCHROMOSOMAL[chr22--chr7]""]" chr22:23767834-chr7:103446122 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 8 AC211476.4--CCDC146 8 0 1.6 0.0 ONLY_REF_SPLICE AC211476.4^ENSG00000277125.1 chr7:73069531:+ CCDC146^ENSG00000135205.15 chr7:77236947:+ LH00995:25:23T55JLT4:5:1267:33732:26082,LH00995:25:23T55JLT4:5:1267:33740:26068,LH00995:25:23T55JLT4:5:2327:45050:24387,LH00995:25:23T55JLT4:6:1179:28781:12854,LH00995:25:23T55JLT4:6:1375:40196:1603,LH00995:25:23T55JLT4:8:1493:5158:6521,LH00995:25:23T55JLT4:8:2292:5506:14746,LH00995:25:23T55JLT4:8:2468:43715:27960 . YES_LDAS 0.0054 GT 1.4566 AG 1.9329 "[""INTRACHROMOSOMAL[chr7:4.05Mb]""]" chr7:73069531-chr7:77236947 True aih_curated_blacklist score(5) 0 aih_curated_blacklist score(5) FAIL 8 TMEFF2--TEX41 7 0 7.0 0.0 ONLY_REF_SPLICE TMEFF2^ENSG00000144339.12 chr2:191998262:- TEX41^ENSG00000226674.11 chr2:144768098:+ LH00995:25:23T55JLT4:5:2116:27220:19062,LH00995:25:23T55JLT4:5:2138:50252:2906,LH00995:25:23T55JLT4:6:1131:23417:3788,LH00995:25:23T55JLT4:6:1261:19211:16932,LH00995:25:23T55JLT4:6:1279:22859:25802,LH00995:25:23T55JLT4:6:1366:45576:19300,LH00995:25:23T55JLT4:6:1473:4988:3312 . YES_LDAS 0.0238 GT 1.8892 AG 1.9219 "[""INTRACHROMOSOMAL[chr2:46.69Mb]""]" chr2:191998262-chr2:144768098 False 0 Read count too low: 7 < 8 FAIL 7 PDGFD--DYNC2H1 7 0 7.0 0.0 ONLY_REF_SPLICE PDGFD^ENSG00000170962.13 chr11:103926912:- DYNC2H1^ENSG00000187240.16 chr11:103468589:+ LH00995:25:23T55JLT4:5:1455:1995:15923,LH00995:25:23T55JLT4:5:2173:23814:6885,LH00995:25:23T55JLT4:5:2321:7828:14536,LH00995:25:23T55JLT4:5:2382:9907:17184,LH00995:25:23T55JLT4:6:2319:49742:19090,LH00995:25:23T55JLT4:6:2496:42178:16245,LH00995:25:23T55JLT4:8:1422:2068:29137 . YES_LDAS 0.0238 GT 1.6729 AG 1.8892 "[""INTRACHROMOSOMAL[chr11:0.43Mb]""]" chr11:103926912-chr11:103468589 False 0 Read count too low: 7 < 8 FAIL 7 FOXO1--LINC00598 7 0 7.0 0.0 ONLY_REF_SPLICE FOXO1^ENSG00000150907.10 chr13:40665583:- LINC00598^ENSG00000215483.11 chr13:40474095:- LH00995:25:23T55JLT4:5:1131:49880:21766,LH00995:25:23T55JLT4:5:1273:24971:18529,LH00995:25:23T55JLT4:5:1355:43392:2177,LH00995:25:23T55JLT4:5:2284:38206:12476,LH00995:25:23T55JLT4:6:2269:6784:19875,LH00995:25:23T55JLT4:6:2276:45139:21262,LH00995:25:23T55JLT4:8:2163:12965:26628 . YES_LDAS 0.0238 GT 1.7232 AG 1.8295 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr13:0.02Mb]"",""NEIGHBORS[19860]""]" chr13:40665583-chr13:40474095 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 7 FAM193B--STAT5B 7 0 7.0 0.0 INCL_NON_REF_SPLICE FAM193B^ENSG00000146067.16 chr5:177554489:- STAT5B^ENSG00000173757.10 chr17:42201805:- LH00995:25:23T55JLT4:5:1287:47865:9113,LH00995:25:23T55JLT4:5:1324:42955:18487,LH00995:25:23T55JLT4:5:1342:46806:6605,LH00995:25:23T55JLT4:6:1473:29582:4349,LH00995:25:23T55JLT4:6:2369:15594:17927,LH00995:25:23T55JLT4:8:1453:30164:1462,LH00995:25:23T55JLT4:8:2216:9284:21514 . NO_LDAS 0.0238 GT 1.231 AG 1.5546 "[""INTERCHROMOSOMAL[chr5--chr17]""]" chr5:177554489-chr17:42201805 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 7 CMTM8--CMTM7 7 0 7.0 0.0 ONLY_REF_SPLICE CMTM8^ENSG00000170293.9 chr3:32239119:+ CMTM7^ENSG00000153551.14 chr3:32441840:+ LH00995:25:23T55JLT4:5:1124:5361:23630,LH00995:25:23T55JLT4:5:1334:5911:9618,LH00995:25:23T55JLT4:5:2321:11671:21388,LH00995:25:23T55JLT4:6:2461:14793:2752,LH00995:25:23T55JLT4:8:1443:36750:22649,LH00995:25:23T55JLT4:8:1444:29372:5946,LH00995:25:23T55JLT4:8:2321:1380:22845 . YES_LDAS 0.0238 GT 1.9656 AG 1.9086 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr3:0.02Mb]"",""NEIGHBORS[21377]""]" chr3:32239119-chr3:32441840 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 7 AL139042.1--CNR1 7 0 7.0 0.0 ONLY_REF_SPLICE AL139042.1^ENSG00000234426.3 chr6:88324000:- CNR1^ENSG00000118432.12 chr6:88145337:- LH00995:25:23T55JLT4:5:1204:41134:22677,LH00995:25:23T55JLT4:5:1423:13386:6619,LH00995:25:23T55JLT4:5:1439:9219:29585,LH00995:25:23T55JLT4:5:2312:13483:26068,LH00995:25:23T55JLT4:6:1178:8103:28044,LH00995:25:23T55JLT4:6:2381:26484:25550,LH00995:25:23T55JLT4:8:1286:48027:28058 . YES_LDAS 0.0238 GT 1.9899 AG 1.8256 "[""TCGA_StarF2019"",""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr6:0.01Mb]"",""NEIGHBORS[11445]""]" chr6:88324000-chr6:88145337 True pair|recurrent breakpoints 0 Blacklisted FAIL 7 AC092691.1--LSAMP 7 0 7.0 0.0 ONLY_REF_SPLICE AC092691.1^ENSG00000239268.3 chr3:117997182:- LSAMP^ENSG00000185565.12 chr3:116444955:- LH00995:25:23T55JLT4:2:1136:20586:25844,LH00995:25:23T55JLT4:5:2485:22730:13751,LH00995:25:23T55JLT4:6:2278:29072:8146,LH00995:25:23T55JLT4:8:1152:4098:23686,LH00995:25:23T55JLT4:8:1387:11881:18894,LH00995:25:23T55JLT4:8:1387:8750:5036,LH00995:25:23T55JLT4:8:2206:47906:28828 . YES_LDAS 0.0238 GT 1.8892 AG 1.9329 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr3:0.53Mb]""]" chr3:117997182-chr3:116444955 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 7 AC083837.1--ZFHX4 7 0 7.0 0.0 ONLY_REF_SPLICE AC083837.1^ENSG00000285744.1 chr8:78805695:+ ZFHX4^ENSG00000091656.19 chr8:76778208:+ LH00995:25:23T55JLT4:6:1105:33651:2681,LH00995:25:23T55JLT4:8:1191:28271:15727,LH00995:25:23T55JLT4:8:1332:29622:14144,LH00995:25:23T55JLT4:8:1446:10384:21878,LH00995:25:23T55JLT4:8:2319:50867:17619,LH00995:25:23T55JLT4:8:2326:6485:12378,LH00995:25:23T55JLT4:8:2358:40334:21010 . YES_LDAS 0.0238 GT 1.9656 AG 1.8892 "[""INTRACHROMOSOMAL[chr8:1.94Mb]""]" chr8:78805695-chr8:76778208 False 0 Read count too low: 7 < 8 FAIL 7 TMEFF2--TEX41 6 0 6.0 0.0 ONLY_REF_SPLICE TMEFF2^ENSG00000144339.12 chr2:191998262:- TEX41^ENSG00000226674.11 chr2:144667969:+ LH00995:25:23T55JLT4:5:1106:18952:2247,LH00995:25:23T55JLT4:5:2169:19356:18165,LH00995:25:23T55JLT4:6:1493:25747:5694,LH00995:25:23T55JLT4:6:2168:41361:10514,LH00995:25:23T55JLT4:8:1345:28546:28814,LH00995:25:23T55JLT4:8:2120:51579:24176 . YES_LDAS 0.0204 GT 1.8892 AG 1.8892 "[""INTRACHROMOSOMAL[chr2:46.69Mb]""]" chr2:191998262-chr2:144667969 False 0 Read count too low: 6 < 8 FAIL 6 PICALM--SYTL2 6 0 6.0 0.0 ONLY_REF_SPLICE PICALM^ENSG00000073921.18 chr11:85981129:- SYTL2^ENSG00000137501.17 chr11:85758114:- LH00995:25:23T55JLT4:5:1432:33773:17857,LH00995:25:23T55JLT4:5:2230:49483:7039,LH00995:25:23T55JLT4:6:1148:44184:14003,LH00995:25:23T55JLT4:6:1372:17471:8483,LH00995:25:23T55JLT4:6:2350:48351:16484,LH00995:25:23T55JLT4:8:2290:39832:19216 . YES_LDAS 0.0204 GT 1.9219 AG 1.8323 "[""INTRACHROMOSOMAL[chr11:0.15Mb]""]" chr11:85981129-chr11:85758114 False 0 Read count too low: 6 < 8 FAIL 6 PCMTD1--PXDNL 6 0 6.0 0.0 ONLY_REF_SPLICE PCMTD1^ENSG00000168300.14 chr8:51831444:- PXDNL^ENSG00000147485.13 chr8:51654760:- LH00995:25:23T55JLT4:5:1391:47364:17408,LH00995:25:23T55JLT4:6:2188:29897:3578,LH00995:25:23T55JLT4:6:2451:21031:7306,LH00995:25:23T55JLT4:8:1270:2618:2794,LH00995:25:23T55JLT4:8:2177:18685:7362,LH00995:25:23T55JLT4:8:2346:18758:19903 . YES_LDAS 0.0204 GT 1.9329 AG 1.8256 "[""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr8:0.01Mb]"",""NEIGHBORS[8130]""]" chr8:51831444-chr8:51654760 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 6 PCGF6--MNX1 6 0 3.0 0.0 INCL_NON_REF_SPLICE PCGF6^ENSG00000156374.16 chr10:103350983:- MNX1^ENSG00000130675.15 chr7:157005174:- LH00995:25:23T55JLT4:5:2185:30156:13471,LH00995:25:23T55JLT4:6:1111:20481:22439,LH00995:25:23T55JLT4:6:1458:26783:14970,LH00995:25:23T55JLT4:6:2362:17779:1673,LH00995:25:23T55JLT4:8:1402:29542:2962,LH00995:25:23T55JLT4:8:2201:8103:23924 . NO_LDAS 0.0102 GT 1.2419 AG 1.231 "[""INTERCHROMOSOMAL[chr10--chr7]""]" chr10:103350983-chr7:157005174 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 6 PCGF6--C10orf99 6 0 3.0 0.0 INCL_NON_REF_SPLICE PCGF6^ENSG00000156374.16 chr10:103350983:- C10orf99^ENSG00000188373.5 chr10:84184831:+ LH00995:25:23T55JLT4:5:2185:30156:13471,LH00995:25:23T55JLT4:6:1111:20481:22439,LH00995:25:23T55JLT4:6:1458:26783:14970,LH00995:25:23T55JLT4:6:2362:17779:1673,LH00995:25:23T55JLT4:8:1402:29542:2962,LH00995:25:23T55JLT4:8:2201:8103:23924 . NO_LDAS 0.0102 GT 1.2419 AG 1.231 "[""INTRACHROMOSOMAL[chr10:19.12Mb]""]" chr10:103350983-chr10:84184831 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 6 PARVB--DKKL1P1 6 0 6.0 0.0 INCL_NON_REF_SPLICE PARVB^ENSG00000188677.15 chr22:44094017:+ DKKL1P1^ENSG00000215546.2 chr20:31274402:+ LH00995:25:23T55JLT4:6:2183:3176:27357,LH00995:25:23T55JLT4:6:2262:43052:22943,LH00995:25:23T55JLT4:6:2416:37429:28030,LH00995:25:23T55JLT4:8:1104:42437:5428,LH00995:25:23T55JLT4:8:1467:44824:5694,LH00995:25:23T55JLT4:8:2370:25505:7404 . NO_LDAS 0.0204 GT 1.9086 AG 1.4295 "[""INTERCHROMOSOMAL[chr22--chr20]""]" chr22:44094017-chr20:31274402 True pair|recurrent breakpoints 0 Blacklisted FAIL 6 GOLGA2--GOLGA2P4 6 0 6.0 0.0 INCL_NON_REF_SPLICE GOLGA2^ENSG00000167110.18 chr9:128267934:- GOLGA2P4^ENSG00000229608.1 chr22:42785003:+ LH00995:25:23T55JLT4:6:1115:44985:15335,LH00995:25:23T55JLT4:6:1301:21435:28688,LH00995:25:23T55JLT4:6:1377:31103:12504,LH00995:25:23T55JLT4:6:1466:32559:12700,LH00995:25:23T55JLT4:8:2394:33578:5638,LH00995:25:23T55JLT4:8:2486:33902:11271 . NO_LDAS 0.0204 GT 1.5628 AG 1.8295 "[""INTERCHROMOSOMAL[chr9--chr22]""]" chr9:128267934-chr22:42785003 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 6 ELAPOR2--TMEM243 6 0 6.0 0.0 ONLY_REF_SPLICE ELAPOR2^ENSG00000164659.15 chr7:86897506:- TMEM243^ENSG00000135185.12 chr7:87199057:- LH00995:25:23T55JLT4:5:2180:46975:29319,LH00995:25:23T55JLT4:6:1208:21961:17408,LH00995:25:23T55JLT4:8:1125:39193:25367,LH00995:25:23T55JLT4:8:1339:21241:22691,LH00995:25:23T55JLT4:8:1494:37203:29207,LH00995:25:23T55JLT4:8:2205:17730:28100 . YES_LDAS 0.0204 GT 1.7819 AG 1.8892 "[""INTRACHROMOSOMAL[chr7:0.14Mb]""]" chr7:86897506-chr7:87199057 False 0 Read count too low: 6 < 8 FAIL 6 DLGAP1--ANKRD30B 6 0 6.0 0.0 ONLY_REF_SPLICE DLGAP1^ENSG00000170579.17 chr18:4151180:- ANKRD30B^ENSG00000180777.14 chr18:14791401:+ LH00995:25:23T55JLT4:5:1431:24065:2808,LH00995:25:23T55JLT4:5:2153:8176:25507,LH00995:25:23T55JLT4:5:2438:23539:21430,LH00995:25:23T55JLT4:6:2369:38246:25465,LH00995:25:23T55JLT4:6:2423:24744:21248,LH00995:25:23T55JLT4:8:1101:18491:25157 . YES_LDAS 0.0204 GT 1.6402 AG 1.9656 "[""INTRACHROMOSOMAL[chr18:10.27Mb]""]" chr18:4151180-chr18:14791401 False 0 Read count too low: 6 < 8 FAIL 6 AC093895.1--SPARCL1 6 0 6.0 0.0 ONLY_REF_SPLICE AC093895.1^ENSG00000249001.5 chr4:87672990:- SPARCL1^ENSG00000152583.13 chr4:87499585:- LH00995:25:23T55JLT4:5:2176:21363:2948,LH00995:25:23T55JLT4:6:1390:31168:26264,LH00995:25:23T55JLT4:6:2268:8111:17941,LH00995:25:23T55JLT4:6:2276:22932:17857,LH00995:25:23T55JLT4:6:2428:8815:25662,LH00995:25:23T55JLT4:8:2370:2286:21444 . YES_LDAS 0.0204 GT 1.9656 AG 1.8892 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr4:0.04Mb]"",""NEIGHBORS[36974]""]" chr4:87672990-chr4:87499585 True pair|recurrent breakpoints 0 Blacklisted FAIL 6 AC005332.4--LRRC37A2 6 0 3.0 0.0 ONLY_REF_SPLICE AC005332.4^ENSG00000274712.2 chr17:68206238:+ LRRC37A2^ENSG00000238083.8 chr17:46517362:+ LH00995:25:23T55JLT4:6:1166:25966:20897,LH00995:25:23T55JLT4:6:1397:18102:6801,LH00995:25:23T55JLT4:6:2144:17876:19356,LH00995:25:23T55JLT4:6:2207:14494:13275,LH00995:25:23T55JLT4:8:2139:3686:11509,LH00995:25:23T55JLT4:8:2239:40374:25956 . YES_LDAS 0.0102 GT 1.7819 AG 1.7232 "[""INTRACHROMOSOMAL[chr17:21.65Mb]""]" chr17:68206238-chr17:46517362 True pair|recurrent breakpoints 0 Blacklisted FAIL 6 AGAP5--AC022400.4 6 1 6.0 0.4 INCL_NON_REF_SPLICE AGAP5^ENSG00000172650.14 chr10:73692043:- AC022400.4^ENSG00000272140.2 chr10:73713326:- LH00995:25:23T55JLT4:2:1151:34986:20183,LH00995:25:23T55JLT4:2:1163:43570:9940,LH00995:25:23T55JLT4:5:1344:33457:16161,LH00995:25:23T55JLT4:5:2238:13410:10809,LH00995:25:23T55JLT4:6:1113:37114:19861,LH00995:25:23T55JLT4:8:2246:51732:25171 LH00995:25:23T55JLT4:5:1217:37656:10570 YES_LDAS 0.0218 GT 1.7465 AG 1.7819 "[""INTRACHROMOSOMAL[chr10:0.01Mb]"",""LOCAL_REARRANGEMENT:-:[5854]""]" chr10:73692043-chr10:73713326 False 0 Read count too low: 7 < 8 FAIL 7 BOLA2B--SMG1P2 5 0 5.0 0.0 ONLY_REF_SPLICE BOLA2B^ENSG00000169627.9 chr16:30193358:- SMG1P2^ENSG00000205534.6 chr16:29548762:- LH00995:25:23T55JLT4:6:1303:7521:19973,LH00995:25:23T55JLT4:6:2157:13879:11846,LH00995:25:23T55JLT4:6:2432:22722:25592,LH00995:25:23T55JLT4:8:1442:12067:18964,LH00995:25:23T55JLT4:8:2204:16994:8721 . YES_LDAS 0.017 GT 1.9329 AG 1.9329 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr16:0.60Mb]""]" chr16:30193358-chr16:29548762 True pair|recurrent breakpoints 0 Blacklisted FAIL 5 BIRC2--AP000619.1 5 0 5.0 0.0 ONLY_REF_SPLICE BIRC2^ENSG00000110330.8 chr11:102368548:+ AP000619.1^ENSG00000225678.2 chr11:102753855:- LH00995:25:23T55JLT4:5:1197:36636:6591,LH00995:25:23T55JLT4:5:1364:23547:9814,LH00995:25:23T55JLT4:5:2234:11841:14844,LH00995:25:23T55JLT4:8:2142:31030:10949,LH00995:25:23T55JLT4:8:2428:16225:21990 . YES_LDAS 0.017 GT 1.7968 AG 1.8295 "[""INTRACHROMOSOMAL[chr11:0.37Mb]""]" chr11:102368548-chr11:102753855 False 0 Read count too low: 5 < 8 FAIL 5 AP001347.1--ANKRD20A11P 5 1 5.0 0.17 INCL_NON_REF_SPLICE AP001347.1^ENSG00000224905.7 chr21:14027597:+ ANKRD20A11P^ENSG00000215559.8 chr21:13979932:- LH00995:25:23T55JLT4:6:1152:38991:7838,LH00995:25:23T55JLT4:6:1483:18410:21794,LH00995:25:23T55JLT4:6:2227:7189:11187,LH00995:25:23T55JLT4:8:1325:18814:14340,LH00995:25:23T55JLT4:8:2353:5676:16273 LH00995:25:23T55JLT4:8:2468:49168:26783 YES_LDAS 0.0176 GT 1.8323 AG 1.5628 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr21:0.05Mb]"",""LOCAL_INVERSION:+:-:[46982]""]" chr21:14027597-chr21:13979932 False 0 Excluded annotation pattern: GTEx_recurrent_StarF2019 FAIL 6 ACVR1--ACVR1C 5 1 5.0 1.0 INCL_NON_REF_SPLICE ACVR1^ENSG00000115170.15 chr2:157737271:- ACVR1C^ENSG00000123612.16 chr2:157587417:- LH00995:25:23T55JLT4:5:2420:20052:21640,LH00995:25:23T55JLT4:6:1291:39306:1771,LH00995:25:23T55JLT4:6:2413:4301:27679,LH00995:25:23T55JLT4:8:1431:45171:23223,LH00995:25:23T55JLT4:8:2255:43926:9155 LH00995:25:23T55JLT4:8:2172:45527:16105 YES_LDAS 0.0204 GT 1.9656 AG 1.8256 "[""DGD_PARALOGS"",""INTRACHROMOSOMAL[chr2:0.11Mb]""]" chr2:157737271-chr2:157587417 True pair|recurrent breakpoints 0 Blacklisted FAIL 6 ZBED3-AS1--PDE8B 4 0 4.0 0.0 ONLY_REF_SPLICE ZBED3-AS1^ENSG00000250802.7 chr5:77118521:+ PDE8B^ENSG00000113231.14 chr5:77311994:+ LH00995:25:23T55JLT4:5:1144:44387:19594,LH00995:25:23T55JLT4:5:1163:22139:15363,LH00995:25:23T55JLT4:8:1108:13459:7306,LH00995:25:23T55JLT4:8:2204:16881:3452 . YES_LDAS 0.0136 GT 1.9329 AG 1.8256 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr5:0.04Mb]"",""NEIGHBORS[43540]""]" chr5:77118521-chr5:77311994 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 4 TPTE2P4--AC013734.1 4 0 2.0 0.0 INCL_NON_REF_SPLICE TPTE2P4^ENSG00000215506.5 chrY:26515708:+ AC013734.1^ENSG00000277146.1 chrY:26453985:+ LH00995:25:23T55JLT4:5:1269:44799:24513,LH00995:25:23T55JLT4:6:1472:46911:24807,LH00995:25:23T55JLT4:6:2140:41895:19566,LH00995:25:23T55JLT4:8:1308:37429:11131 . YES_LDAS 0.0068 GT 1.8295 AG 1.8892 "[""INTRACHROMOSOMAL[chrY:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[54121]""]" chrY:26515708-chrY:26453985 False 0 Read count too low: 4 < 8 FAIL 4 RPS3AP11--SEPTIN7 4 0 1.33 0.0 INCL_NON_REF_SPLICE RPS3AP11^ENSG00000230116.1 chr1:42491744:+ SEPTIN7^ENSG00000122545.20 chr7:35832804:+ LH00995:25:23T55JLT4:5:1283:25052:29067,LH00995:25:23T55JLT4:5:1315:46482:13667,LH00995:25:23T55JLT4:6:1453:34331:26755,LH00995:25:23T55JLT4:6:2212:26144:23700 . NO_LDAS 0.0045 GT 1.9329 AG 1.8892 "[""INTERCHROMOSOMAL[chr1--chr7]""]" chr1:42491744-chr7:35832804 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 4 LDLRAD3--PRR5L 4 0 4.0 0.0 ONLY_REF_SPLICE LDLRAD3^ENSG00000179241.13 chr11:36098461:+ PRR5L^ENSG00000135362.14 chr11:36393846:+ LH00995:25:23T55JLT4:5:1429:7359:5372,LH00995:25:23T55JLT4:5:2286:34954:17100,LH00995:25:23T55JLT4:5:2297:15530:29081,LH00995:25:23T55JLT4:6:1313:41272:27539 . YES_LDAS 0.0136 GT 1.9329 AG 1.8323 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr11:0.06Mb]"",""NEIGHBORS[64152]""]" chr11:36098461-chr11:36393846 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 4 AL139042.1--CNR1 4 0 4.0 0.0 ONLY_REF_SPLICE AL139042.1^ENSG00000234426.3 chr6:88298861:- CNR1^ENSG00000118432.12 chr6:88145337:- LH00995:25:23T55JLT4:5:1246:20869:24485,LH00995:25:23T55JLT4:6:1479:1202:13345,LH00995:25:23T55JLT4:6:2392:33967:22229,LH00995:25:23T55JLT4:8:1378:6792:19748 . YES_LDAS 0.0136 GT 1.4716 AG 1.8256 "[""TCGA_StarF2019"",""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr6:0.01Mb]"",""NEIGHBORS[11445]""]" chr6:88298861-chr6:88145337 False 0 Read count too low: 4 < 8 FAIL 4 AC112721.2--COL6A3 4 0 4.0 0.0 ONLY_REF_SPLICE AC112721.2^ENSG00000222032.1 chr2:237433061:- COL6A3^ENSG00000163359.16 chr2:237396847:- LH00995:25:23T55JLT4:5:1389:32049:7642,LH00995:25:23T55JLT4:5:2191:9608:28856,LH00995:25:23T55JLT4:5:2307:12164:27203,LH00995:25:23T55JLT4:8:2298:18758:18922 . YES_LDAS 0.0136 GT 1.9086 AG 1.7968 "[""INTRACHROMOSOMAL[chr2:0.01Mb]"",""NEIGHBORS[14713]""]" chr2:237433061-chr2:237396847 True pair|recurrent breakpoints 0 Blacklisted FAIL 4 AC112721.1--COL6A3 4 0 4.0 0.0 ONLY_REF_SPLICE AC112721.1^ENSG00000222022.1 chr2:237425219:- COL6A3^ENSG00000163359.16 chr2:237396847:- LH00995:25:23T55JLT4:2:1119:26637:2023,LH00995:25:23T55JLT4:5:2284:15174:11846,LH00995:25:23T55JLT4:6:2142:3880:15573,LH00995:25:23T55JLT4:6:2296:12480:3873 . YES_LDAS 0.0136 GT 1.8892 AG 1.7968 "[""INTRACHROMOSOMAL[chr2:0.01Mb]"",""NEIGHBORS[7213]""]" chr2:237425219-chr2:237396847 True pair|recurrent breakpoints 0 Blacklisted FAIL 4 AC112721.1--COL6A3 4 0 4.0 0.0 ONLY_REF_SPLICE AC112721.1^ENSG00000222022.1 chr2:237422125:- COL6A3^ENSG00000163359.16 chr2:237396847:- LH00995:25:23T55JLT4:5:1332:28878:25522,LH00995:25:23T55JLT4:5:1348:46086:17633,LH00995:25:23T55JLT4:5:1397:10789:17675,LH00995:25:23T55JLT4:8:2148:51757:13835 . YES_LDAS 0.0136 GT 1.8892 AG 1.7968 "[""INTRACHROMOSOMAL[chr2:0.01Mb]"",""NEIGHBORS[7213]""]" chr2:237422125-chr2:237396847 True pair|recurrent breakpoints 0 Blacklisted FAIL 4 AC091132.4--AC091132.1 4 0 1.0 0.0 INCL_NON_REF_SPLICE AC091132.4^ENSG00000267198.1 chr17:45545944:+ AC091132.1^ENSG00000131484.4 chr17:45534200:+ LH00995:25:23T55JLT4:5:2362:3791:12952,LH00995:25:23T55JLT4:5:2366:34080:6759,LH00995:25:23T55JLT4:5:2409:41426:6030,LH00995:25:23T55JLT4:8:1412:28999:22481 . YES_LDAS 0.0034 GT 1.5329 AG 1.9656 "[""INTRACHROMOSOMAL[chr17:0.01Mb]"",""LOCAL_REARRANGEMENT:+:[11094]""]" chr17:45545944-chr17:45534200 False 0 Read count too low: 4 < 8 FAIL 4 AC044810.2--OVCH2 4 0 4.0 0.0 ONLY_REF_SPLICE AC044810.2^ENSG00000254951.7 chr11:7879007:- OVCH2^ENSG00000183378.12 chr11:7704674:- LH00995:25:23T55JLT4:6:1221:6113:8230,LH00995:25:23T55JLT4:6:1309:13904:22453,LH00995:25:23T55JLT4:6:1424:7690:29459,LH00995:25:23T55JLT4:8:2107:1979:6227 . YES_LDAS 0.0136 GT 1.7056 AG 1.8256 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr11:0.05Mb]"",""NEIGHBORS[47972]""]" chr11:7879007-chr11:7704674 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 4 AC005332.4--LRRC37A2 4 0 1.25 0.0 ONLY_REF_SPLICE AC005332.4^ENSG00000274712.2 chr17:68206238:+ LRRC37A2^ENSG00000238083.8 chr17:46548312:+ LH00995:25:23T55JLT4:5:1212:43278:27960,LH00995:25:23T55JLT4:5:2458:14535:11243,LH00995:25:23T55JLT4:6:1373:3273:22453,LH00995:25:23T55JLT4:6:2131:26985:17955 . YES_LDAS 0.0042 GT 1.7819 AG 1.9086 "[""INTRACHROMOSOMAL[chr17:21.65Mb]""]" chr17:68206238-chr17:46548312 True pair|recurrent breakpoints 0 Blacklisted FAIL 4 ZNF720--AC098826.1 3 0 0.5 0.0 ONLY_REF_SPLICE ZNF720^ENSG00000197302.10 chr16:31723353:+ AC098826.1^ENSG00000225594.1 chr2:132087289:+ LH00995:25:23T55JLT4:5:1390:22430:3256,LH00995:25:23T55JLT4:5:1461:15886:18319,LH00995:25:23T55JLT4:8:2472:45988:9786 . NO_LDAS 0.0017 GT 1.8892 AG 1.9656 "[""INTERCHROMOSOMAL[chr16--chr2]""]" chr16:31723353-chr2:132087289 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 3 TRIO--OPN4 3 0 3.0 0.0 INCL_NON_REF_SPLICE TRIO^ENSG00000038382.20 chr5:14304592:+ OPN4^ENSG00000122375.12 chr10:86666456:+ LH00995:25:23T55JLT4:2:1128:14583:25115,LH00995:25:23T55JLT4:6:2111:1356:28688,LH00995:25:23T55JLT4:8:1372:6525:3480 . NO_LDAS 0.0102 GT 1.8295 AG 1.9086 "[""INTERCHROMOSOMAL[chr5--chr10]""]" chr5:14304592-chr10:86666456 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 3 TPTE--BAGE2 3 0 1.5 0.0 ONLY_REF_SPLICE TPTE^ENSG00000274391.5 chr21:10552716:+ BAGE2^ENSG00000187172.15 chr21:10514122:+ LH00995:25:23T55JLT4:5:2275:37583:25129,LH00995:25:23T55JLT4:5:2394:36798:4545,LH00995:25:23T55JLT4:6:1178:2246:28184 . YES_LDAS 0.0051 GT 1.8295 AG 1.7819 "[""INTRACHROMOSOMAL[chr21:0.01Mb]"",""LOCAL_REARRANGEMENT:+:[5122]""]" chr21:10552716-chr21:10514122 False 0 Read count too low: 3 < 8 FAIL 3 RRBP1--AC091044.1 3 0 3.0 0.0 INCL_NON_REF_SPLICE RRBP1^ENSG00000125844.16 chr20:17660073:- AC091044.1^ENSG00000267196.1 chr18:49970952:- LH00995:25:23T55JLT4:5:2121:34323:23462,LH00995:25:23T55JLT4:6:1133:19712:2864,LH00995:25:23T55JLT4:6:1269:2214:18207 . NO_LDAS 0.0102 GT 0.8366 AG 1.7056 "[""INTERCHROMOSOMAL[chr20--chr18]""]" chr20:17660073-chr18:49970952 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 3 PRR16--AC114284.1 3 0 3.0 0.0 ONLY_REF_SPLICE PRR16^ENSG00000184838.15 chr5:120464645:+ AC114284.1^ENSG00000248927.1 chr5:120789954:+ LH00995:25:23T55JLT4:6:2413:31265:22397,LH00995:25:23T55JLT4:8:1475:40916:18039,LH00995:25:23T55JLT4:8:2251:43934:5414 . YES_LDAS 0.0102 GT 1.6895 AG 1.9329 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr5:0.09Mb]"",""NEIGHBORS[93886]""]" chr5:120464645-chr5:120789954 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 3 PICALM--AC008132.1 3 0 0.6 0.0 INCL_NON_REF_SPLICE PICALM^ENSG00000073921.18 chr11:85981745:- AC008132.1^ENSG00000161103.11 chr22:18859264:+ LH00995:25:23T55JLT4:6:1471:24817:18515,LH00995:25:23T55JLT4:6:2376:8232:18039,LH00995:25:23T55JLT4:8:2442:5352:14003 . NO_LDAS 0.002 GT 1.8295 AG 1.9086 "[""INTERCHROMOSOMAL[chr11--chr22]""]" chr11:85981745-chr22:18859264 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 3 NCOR1--AC108156.1 3 0 3.0 0.0 INCL_NON_REF_SPLICE NCOR1^ENSG00000141027.21 chr17:16146495:- AC108156.1^ENSG00000249752.1 chr4:149062506:- LH00995:25:23T55JLT4:5:1105:14842:2135,LH00995:25:23T55JLT4:5:1218:29566:20939,LH00995:25:23T55JLT4:6:1293:32616:23195 . NO_LDAS 0.0102 GT 1.5329 AG 1.6895 "[""INTERCHROMOSOMAL[chr17--chr4]""]" chr17:16146495-chr4:149062506 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 3 AC098590.2--HLA-DPB1 3 0 3.0 0.0 INCL_NON_REF_SPLICE AC098590.2^ENSG00000277096.1 chr4:43388438:+ HLA-DPB1^ENSG00000223865.11 chr6:33085779:+ LH00995:25:23T55JLT4:5:1253:47299:26208,LH00995:25:23T55JLT4:5:2329:47331:16484,LH00995:25:23T55JLT4:8:2428:4810:26657 . YES_LDAS 0.0102 GT 1.9329 AG 1.9899 "[""INTERCHROMOSOMAL[chr4--chr6]""]" chr4:43388438-chr6:33085779 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 3 AC009315.1--FSIP2 3 0 3.0 0.0 ONLY_REF_SPLICE AC009315.1^ENSG00000286797.1 chr2:185483091:+ FSIP2^ENSG00000188738.15 chr2:185739346:+ LH00995:25:23T55JLT4:5:1331:36062:15993,LH00995:25:23T55JLT4:5:1363:8839:17661,LH00995:25:23T55JLT4:5:2224:48707:12672 . YES_LDAS 0.0102 GT 1.7968 AG 1.8256 "[""INTRACHROMOSOMAL[chr2:0.23Mb]""]" chr2:185483091-chr2:185739346 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 3 ELAPOR2--TMEM243 3 1 3.0 1.0 INCL_NON_REF_SPLICE ELAPOR2^ENSG00000164659.15 chr7:86897506:- TMEM243^ENSG00000135185.12 chr7:87206742:- LH00995:25:23T55JLT4:5:2180:35706:28772,LH00995:25:23T55JLT4:6:1425:8588:5092,LH00995:25:23T55JLT4:8:1348:50203:21654 LH00995:25:23T55JLT4:5:1156:23612:3508 YES_LDAS 0.0136 GT 1.7819 AG 1.8892 "[""INTRACHROMOSOMAL[chr7:0.14Mb]""]" chr7:86897506-chr7:87206742 False 0 Read count too low: 4 < 8 FAIL 4 AP001347.1--ANKRD20A11P 3 1 3.0 0.1 INCL_NON_REF_SPLICE AP001347.1^ENSG00000224905.7 chr21:14027597:+ ANKRD20A11P^ENSG00000215559.8 chr21:13979884:- LH00995:25:23T55JLT4:5:2407:14219:21206,LH00995:25:23T55JLT4:6:2220:47283:23069,LH00995:25:23T55JLT4:8:1410:25885:4587 LH00995:25:23T55JLT4:8:2468:49168:26783 YES_LDAS 0.0105 GT 1.8323 AG 1.5656 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr21:0.05Mb]"",""LOCAL_INVERSION:+:-:[46982]""]" chr21:14027597-chr21:13979884 False 0 Excluded annotation pattern: GTEx_recurrent_StarF2019 FAIL 4 AP001347.1--ANKRD20A11P 3 1 3.0 0.1 INCL_NON_REF_SPLICE AP001347.1^ENSG00000224905.7 chr21:14027597:+ ANKRD20A11P^ENSG00000215559.8 chr21:13972057:- LH00995:25:23T55JLT4:5:2471:43626:5274,LH00995:25:23T55JLT4:6:1291:51797:25648,LH00995:25:23T55JLT4:6:1340:3071:29333 LH00995:25:23T55JLT4:8:2468:49168:26783 YES_LDAS 0.0105 GT 1.8323 AG 1.9656 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr21:0.05Mb]"",""LOCAL_INVERSION:+:-:[46982]""]" chr21:14027597-chr21:13972057 False 0 Excluded annotation pattern: GTEx_recurrent_StarF2019 FAIL 4 AP001347.1--ANKRD20A11P 3 1 3.0 0.1 INCL_NON_REF_SPLICE AP001347.1^ENSG00000224905.7 chr21:14027597:+ ANKRD20A11P^ENSG00000215559.8 chr21:13954147:- LH00995:25:23T55JLT4:6:2248:12108:11411,LH00995:25:23T55JLT4:6:2349:28619:9968,LH00995:25:23T55JLT4:8:2456:29663:24863 LH00995:25:23T55JLT4:8:2468:49168:26783 YES_LDAS 0.0105 GT 1.8323 AG 1.9656 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr21:0.05Mb]"",""LOCAL_INVERSION:+:-:[46982]""]" chr21:14027597-chr21:13954147 False 0 Excluded annotation pattern: GTEx_recurrent_StarF2019 FAIL 4 ZNF75D--AC234771.4 2 0 1.0 0.0 ONLY_REF_SPLICE ZNF75D^ENSG00000186376.15 chrX:135343261:- AC234771.4^ENSG00000236491.1 chrX:135193082:- LH00995:25:23T55JLT4:8:1192:32494:4405,LH00995:25:23T55JLT4:8:2473:19275:14073 . YES_LDAS 0.0034 GT 1.6895 AG 1.9899 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chrX:0.05Mb]"",""NEIGHBORS[54241]""]" chrX:135343261-chrX:135193082 True pair|recurrent breakpoints 0 Blacklisted FAIL 2 ZNF37BP--ZFP1 2 0 2.0 0.0 ONLY_REF_SPLICE ZNF37BP^ENSG00000234420.7 chr10:42525540:- ZFP1^ENSG00000184517.12 chr16:75166770:+ LH00995:25:23T55JLT4:5:2344:48270:19678,LH00995:25:23T55JLT4:8:1327:41943:10542 . YES_LDAS 0.0068 GT 1.9329 AG 1.9219 "[""INTERCHROMOSOMAL[chr10--chr16]""]" chr10:42525540-chr16:75166770 True pair|recurrent breakpoints 0 Blacklisted FAIL 2 ZBED3-AS1--PDE8B 2 0 2.0 0.0 INCL_NON_REF_SPLICE ZBED3-AS1^ENSG00000250802.7 chr5:77118521:+ PDE8B^ENSG00000113231.14 chr5:77311997:+ LH00995:25:23T55JLT4:8:1463:27770:2443,LH00995:25:23T55JLT4:8:2473:42356:20841 . YES_LDAS 0.0068 GT 1.9329 AG 1.7819 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr5:0.04Mb]"",""NEIGHBORS[43540]""]" chr5:77118521-chr5:77311997 True pair|recurrent breakpoints 0 Blacklisted FAIL 2 UBE2Q2P1--GOLGA6L10 2 0 1.0 0.0 ONLY_REF_SPLICE UBE2Q2P1^ENSG00000189136.9 chr15:84526781:- GOLGA6L10^ENSG00000278662.5 chr15:82347629:- LH00995:25:23T55JLT4:6:1449:1485:25858,LH00995:25:23T55JLT4:8:1368:1259:24148 . YES_LDAS 0.0034 GT 1.8323 AG 1.7819 "[""INTRACHROMOSOMAL[chr15:2.18Mb]""]" chr15:84526781-chr15:82347629 False 0 Read count too low: 2 < 8 FAIL 2 TPM3--KCNT1 2 0 0.67 0.0 INCL_NON_REF_SPLICE TPM3^ENSG00000143549.21 chr1:154176113:- KCNT1^ENSG00000107147.14 chr9:135736675:+ LH00995:25:23T55JLT4:5:1378:38659:8553,LH00995:25:23T55JLT4:6:1123:32244:17030 . NO_LDAS 0.0023 GT 1.5058 AG 0.9183 "[""INTERCHROMOSOMAL[chr1--chr9]""]" chr1:154176113-chr9:135736675 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 2 TEX21P--ZNF517 2 0 2.0 0.0 ONLY_REF_SPLICE TEX21P^ENSG00000234911.2 chr14:64353953:- ZNF517^ENSG00000197363.9 chr8:144802870:+ LH00995:25:23T55JLT4:5:1228:44500:23798,LH00995:25:23T55JLT4:5:2137:6623:21360 . YES_LDAS 0.0068 GT 1.9329 AG 1.8892 "[""INTERCHROMOSOMAL[chr14--chr8]""]" chr14:64353953-chr8:144802870 True pair|recurrent breakpoints 0 Blacklisted FAIL 2 SEPTIN14--AP006222.1 2 0 1.0 0.0 INCL_NON_REF_SPLICE SEPTIN14^ENSG00000154997.9 chr7:55795924:- AP006222.1^ENSG00000228463.10 chr1:297502:- LH00995:25:23T55JLT4:5:1494:3047:7992,LH00995:25:23T55JLT4:6:1307:42720:17436 . YES_LDAS 0.0034 GT 1.5546 AG 1.9086 "[""INTERCHROMOSOMAL[chr7--chr1]""]" chr7:55795924-chr1:297502 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 2 SEPTIN14--AP006222.1 2 0 2.0 0.0 INCL_NON_REF_SPLICE SEPTIN14^ENSG00000154997.9 chr7:55795924:- AP006222.1^ENSG00000228463.10 chr1:289370:- LH00995:25:23T55JLT4:6:2343:47000:25353,LH00995:25:23T55JLT4:8:2329:4244:25451 . YES_LDAS 0.0068 GT 1.5546 AG 1.7968 "[""INTERCHROMOSOMAL[chr7--chr1]""]" chr7:55795924-chr1:289370 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 2 SEPTIN14--AL031259.1 2 0 1.0 0.0 INCL_NON_REF_SPLICE SEPTIN14^ENSG00000154997.9 chr7:55795924:- AL031259.1^ENSG00000287411.1 chr6:170614324:+ LH00995:25:23T55JLT4:5:1494:3047:7992,LH00995:25:23T55JLT4:6:1307:42720:17436 . YES_LDAS 0.0034 GT 1.5546 AG 1.9086 "[""INTERCHROMOSOMAL[chr7--chr6]""]" chr7:55795924-chr6:170614324 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 2 ROCK1P1--IGL-@-ext 2 0 2.0 0.0 INCL_NON_REF_SPLICE ROCK1P1^ENSG00000263006.6 chr18:118577:+ IGL-@-ext^IGL-.g@-ext chr22:22131483:- LH00995:25:23T55JLT4:5:2123:42623:19314,LH00995:25:23T55JLT4:6:2160:51910:28730 . NO_LDAS 0.0068 AA 1.6402 TT 1.9086 "[""INTERCHROMOSOMAL[chr18--chr22]""]" chr18:118577-chr22:22131483 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 2 RGPD8--VINAC1P 2 0 1.0 0.0 ONLY_REF_SPLICE RGPD8^ENSG00000169629.12 chr2:112378053:- VINAC1P^ENSG00000283698.1 chr2:112440611:- LH00995:25:23T55JLT4:6:1265:22406:13975,LH00995:25:23T55JLT4:6:1447:29202:22523 . YES_LDAS 0.0034 GT 1.9329 AG 1.6895 "[""INTRACHROMOSOMAL[chr2:0.00Mb]"",""LOCAL_REARRANGEMENT:-:[4824]""]" chr2:112378053-chr2:112440611 False 0 Read count too low: 2 < 8 FAIL 2 PCMTD1--PXDNL 2 0 2.0 0.0 ONLY_REF_SPLICE PCMTD1^ENSG00000168300.14 chr8:51860845:- PXDNL^ENSG00000147485.13 chr8:51654760:- LH00995:25:23T55JLT4:8:1236:12739:28086,LH00995:25:23T55JLT4:8:2219:42672:28730 . YES_LDAS 0.0068 GT 1.7465 AG 1.8256 "[""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr8:0.01Mb]"",""NEIGHBORS[8130]""]" chr8:51860845-chr8:51654760 True pair|recurrent breakpoints 0 Blacklisted FAIL 2 NPM1P31--NPM1P4 2 0 2.0 0.0 INCL_NON_REF_SPLICE NPM1P31^ENSG00000214807.2 chr10:124867902:+ NPM1P4^ENSG00000226703.1 chr13:27696868:- LH00995:25:23T55JLT4:5:1493:38659:27413,LH00995:25:23T55JLT4:8:1243:45099:8188 . NO_LDAS 0.0068 GT 1.2867 AG 1.8323 "[""INTERCHROMOSOMAL[chr10--chr13]""]" chr10:124867902-chr13:27696868 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 2 IGL-@-ext--PPM1F-AS1 2 0 1.0 0.0 INCL_NON_REF_SPLICE IGL-@-ext^IGL-.g@-ext chr22:22906342:- PPM1F-AS1^ENSG00000224086.6 chr22:21974013:+ LH00995:25:23T55JLT4:5:2170:4891:7684,LH00995:25:23T55JLT4:8:1172:51166:6114 . NO_LDAS 0.0034 CT 1.9086 AC 1.9656 "[""INTRACHROMOSOMAL[chr22:0.05Mb]"",""LOCAL_INVERSION:-:+:[53302]""]" chr22:22906342-chr22:21974013 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 2 IGL-@-ext--PPM1F-AS1 2 0 1.0 0.0 INCL_NON_REF_SPLICE IGL-@-ext^IGL-.g@-ext chr22:22900976:- PPM1F-AS1^ENSG00000224086.6 chr22:21974013:+ LH00995:25:23T55JLT4:5:2170:4891:7684,LH00995:25:23T55JLT4:8:1172:51166:6114 . NO_LDAS 0.0034 CT 1.9086 AC 1.9656 "[""INTRACHROMOSOMAL[chr22:0.05Mb]"",""LOCAL_INVERSION:-:+:[53302]""]" chr22:22900976-chr22:21974013 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 2 HRC--USH2A 2 0 2.0 0.0 INCL_NON_REF_SPLICE HRC^ENSG00000130528.12 chr19:49154455:- USH2A^ENSG00000042781.14 chr1:215634501:- LH00995:25:23T55JLT4:6:2134:29145:4153,LH00995:25:23T55JLT4:8:2421:49322:7123 . NO_LDAS 0.0068 GT 1.585 AG 1.9656 "[""INTERCHROMOSOMAL[chr19--chr1]""]" chr19:49154455-chr1:215634501 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 2 HNRNPKP3--CACNB2 2 0 2.0 0.0 INCL_NON_REF_SPLICE HNRNPKP3^ENSG00000251557.2 chr11:43261684:- CACNB2^ENSG00000165995.22 chr10:18541050:+ LH00995:25:23T55JLT4:5:2186:49775:11579,LH00995:25:23T55JLT4:8:1366:34606:25522 . NO_LDAS 0.0068 GT 1.7056 AG 1.8892 "[""INTERCHROMOSOMAL[chr11--chr10]""]" chr11:43261684-chr10:18541050 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 2 GOLGA2--GOLGA2P6 2 0 2.0 0.0 INCL_NON_REF_SPLICE GOLGA2^ENSG00000167110.18 chr9:128257601:- GOLGA2P6^ENSG00000241621.1 chr10:30364862:- LH00995:25:23T55JLT4:8:1272:27357:13163,LH00995:25:23T55JLT4:8:2458:50729:26012 . YES_LDAS 0.0068 GT 1.2867 AG 1.8892 "[""INTERCHROMOSOMAL[chr9--chr10]""]" chr9:128257601-chr10:30364862 False 0 Read count too low: 2 < 8 FAIL 2 DDR1-DT--REST 2 0 2.0 0.0 INCL_NON_REF_SPLICE DDR1-DT^ENSG00000237775.1 chr6:30874982:- REST^ENSG00000084093.19 chr4:56919787:+ LH00995:25:23T55JLT4:5:1388:39144:14017,LH00995:25:23T55JLT4:6:2383:16015:1869 . YES_LDAS 0.0068 GT 1.9656 AG 1.8892 "[""INTERCHROMOSOMAL[chr6--chr4]""]" chr6:30874982-chr4:56919787 False 0 Read count too low: 2 < 8 FAIL 2 CKAP4--C5orf49 2 0 2.0 0.0 INCL_NON_REF_SPLICE CKAP4^ENSG00000136026.14 chr12:106239165:- C5orf49^ENSG00000215217.7 chr5:7850973:- LH00995:25:23T55JLT4:5:1402:47938:23840,LH00995:25:23T55JLT4:6:1325:18725:17380 . NO_LDAS 0.0068 GT 1.9899 AG 1.1589 "[""INTERCHROMOSOMAL[chr12--chr5]""]" chr12:106239165-chr5:7850973 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 2 C10orf71--PTMS 2 0 1.0 0.0 INCL_NON_REF_SPLICE C10orf71^ENSG00000177354.12 chr10:49325741:+ PTMS^ENSG00000159335.18 chr12:6769927:+ LH00995:25:23T55JLT4:5:1186:22026:14746,LH00995:25:23T55JLT4:6:2339:25529:6689 . NO_LDAS 0.0034 GT 1.5219 AG 1.6402 "[""INTERCHROMOSOMAL[chr10--chr12]""]" chr10:49325741-chr12:6769927 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 2 BX842568.2--AL592156.1 2 0 2.0 0.0 INCL_NON_REF_SPLICE BX842568.2^ENSG00000231069.1 chrX:36964246:- AL592156.1^ENSG00000286475.1 chrX:36817653:- LH00995:25:23T55JLT4:5:1397:47663:21066,LH00995:25:23T55JLT4:6:1216:46215:28450 . YES_LDAS 0.0068 GT 1.0389 AG 1.8892 "[""INTRACHROMOSOMAL[chrX:0.12Mb]""]" chrX:36964246-chrX:36817653 True pair|recurrent breakpoints 0 Blacklisted FAIL 2 AL390957.1--RPAP2 2 0 2.0 0.0 ONLY_REF_SPLICE AL390957.1^ENSG00000285280.2 chr1:192925612:- RPAP2^ENSG00000122484.9 chr1:92333391:+ LH00995:25:23T55JLT4:2:1165:18911:18207,LH00995:25:23T55JLT4:8:1140:31426:18922 . NO_LDAS 0.0068 GT 1.7819 AG 1.7819 "[""INTRACHROMOSOMAL[chr1:99.77Mb]""]" chr1:192925612-chr1:92333391 False 0 Read count too low: 2 < 8 FAIL 2 ACTR3C--AC092681.1 2 0 2.0 0.0 INCL_NON_REF_SPLICE ACTR3C^ENSG00000106526.10 chr7:150284753:- AC092681.1^ENSG00000224016.2 chr7:149909705:- LH00995:25:23T55JLT4:5:2213:24655:11537,LH00995:25:23T55JLT4:8:2443:14996:17703 . YES_LDAS 0.0068 GT 1.9899 AG 1.9899 "[""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr7:0.33Mb]""]" chr7:150284753-chr7:149909705 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 2 AC091057.4--AC091057.6 2 0 2.0 0.0 INCL_NON_REF_SPLICE AC091057.4^ENSG00000284783.1 chr15:30750556:+ AC091057.6^ENSG00000285035.1 chr15:30716220:+ LH00995:25:23T55JLT4:5:1468:21589:22453,LH00995:25:23T55JLT4:6:1154:43036:19440 . YES_LDAS 0.0068 GT 1.8892 AG 1.8256 "[""INTRACHROMOSOMAL[chr15:0.03Mb]"",""LOCAL_REARRANGEMENT:+:[26911]""]" chr15:30750556-chr15:30716220 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 2 AC016907.2--ALK 2 0 2.0 0.0 ONLY_REF_SPLICE AC016907.2^ENSG00000233862.7 chr2:30119768:- ALK^ENSG00000171094.18 chr2:29717697:- LH00995:25:23T55JLT4:6:1201:43748:19945,LH00995:25:23T55JLT4:8:2406:30739:16105 . YES_LDAS 0.0068 GT 1.8062 AG 1.9329 "[""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr2:0.13Mb]""]" chr2:30119768-chr2:29717697 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 2 AC004784.1--CD177 2 0 2.0 0.0 INCL_NON_REF_SPLICE AC004784.1^ENSG00000282943.1 chr19:43137698:+ CD177^ENSG00000204936.10 chr19:43354207:+ LH00995:25:23T55JLT4:6:2110:50964:20589,LH00995:25:23T55JLT4:8:1422:41434:20954 . YES_LDAS 0.0068 GT 1.9086 AG 1.8062 "[""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr19:0.18Mb]""]" chr19:43137698-chr19:43354207 True pair|recurrent breakpoints 0 Blacklisted FAIL 2 ZNF93--PBK 1 0 1.0 0.0 ONLY_REF_SPLICE ZNF93^ENSG00000184635.16 chr19:19901091:+ PBK^ENSG00000168078.10 chr8:27833133:- LH00995:25:23T55JLT4:8:2273:47048:1364 . YES_LDAS 0.0034 GT 1.8323 AG 1.8892 "[""INTERCHROMOSOMAL[chr19--chr8]""]" chr19:19901091-chr8:27833133 False 0 Read count too low: 1 < 8 FAIL 1 ZNF736P9Y--ZNF611 1 0 1.0 0.0 ONLY_REF_SPLICE ZNF736P9Y^ENSG00000239893.2 chrY:8111850:- ZNF611^ENSG00000213020.10 chr19:52706864:- LH00995:25:23T55JLT4:8:1197:15683:17156 . YES_LDAS 0.0034 GT 1.8892 AG 1.5656 "[""INTERCHROMOSOMAL[chrY--chr19]""]" chrY:8111850-chr19:52706864 False 0 Read count too low: 1 < 8 FAIL 1 ZNF730--AC012358.2 1 0 1.0 0.0 INCL_NON_REF_SPLICE ZNF730^ENSG00000183850.14 chr19:23143980:+ AC012358.2^ENSG00000240401.9 chr2:55308925:+ LH00995:25:23T55JLT4:8:2170:27778:27848 . NO_LDAS 0.0034 GT 1.7819 AG 1.6895 "[""INTERCHROMOSOMAL[chr19--chr2]""]" chr19:23143980-chr2:55308925 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 ZNF695--ABHD12B 1 0 1.0 0.0 INCL_NON_REF_SPLICE ZNF695^ENSG00000197472.15 chr1:246999348:- ABHD12B^ENSG00000131969.15 chr14:50891971:+ LH00995:25:23T55JLT4:5:2145:24874:9505 . NO_LDAS 0.0034 GT 1.7819 AG 1.3753 "[""INTERCHROMOSOMAL[chr1--chr14]""]" chr1:246999348-chr14:50891971 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 ZNF550--ZNF611 1 0 1.0 0.0 ONLY_REF_SPLICE ZNF550^ENSG00000251369.9 chr19:57552627:- ZNF611^ENSG00000213020.10 chr19:52715913:- LH00995:25:23T55JLT4:6:2334:16695:8455 . NO_LDAS 0.0034 GT 1.9899 AG 1.9086 "[""HGNC_GENEFAM"",""INTRACHROMOSOMAL[chr19:4.80Mb]""]" chr19:57552627-chr19:52715913 False 0 Excluded annotation pattern: HGNC_GENEFAM FAIL 1 ZNF493--FAM122C 1 0 1.0 0.0 ONLY_REF_SPLICE ZNF493^ENSG00000196268.12 chr19:21405856:+ FAM122C^ENSG00000156500.15 chrX:134845205:+ LH00995:25:23T55JLT4:6:1131:12035:1252 . YES_LDAS 0.0034 GT 1.8323 AG 1.8323 "[""INTERCHROMOSOMAL[chr19--chrX]""]" chr19:21405856-chrX:134845205 False 0 Read count too low: 1 < 8 FAIL 1 ZNF460-AS1--ZNF550 1 0 1.0 0.0 ONLY_REF_SPLICE ZNF460-AS1^ENSG00000267871.6 chr19:57280279:- ZNF550^ENSG00000251369.9 chr19:57552722:- LH00995:25:23T55JLT4:8:2336:1849:25367 . YES_LDAS 0.0034 GT 1.8295 AG 1.9086 "[""INTRACHROMOSOMAL[chr19:0.25Mb]""]" chr19:57280279-chr19:57552722 False 0 Read count too low: 1 < 8 FAIL 1 ZNF44--ATAD3C 1 0 1.0 0.0 ONLY_REF_SPLICE ZNF44^ENSG00000197857.15 chr19:12293232:- ATAD3C^ENSG00000215915.10 chr1:1450681:+ LH00995:25:23T55JLT4:6:1252:2036:18235 . NO_LDAS 0.0034 GT 1.9086 AG 1.9329 "[""INTERCHROMOSOMAL[chr19--chr1]""]" chr19:12293232-chr1:1450681 False 0 Read count too low: 1 < 8 FAIL 1 ZNF433-AS1--ZNF543 1 0 1.0 0.0 ONLY_REF_SPLICE ZNF433-AS1^ENSG00000219665.8 chr19:12001822:+ ZNF543^ENSG00000178229.8 chr19:57323682:+ LH00995:25:23T55JLT4:8:1339:1332:9842 . YES_LDAS 0.0034 GT 1.8295 AG 1.7465 "[""INTRACHROMOSOMAL[chr19:45.27Mb]""]" chr19:12001822-chr19:57323682 False 0 Read count too low: 1 < 8 FAIL 1 ZNF35--ZNF197 1 0 1.0 0.0 INCL_NON_REF_SPLICE ZNF35^ENSG00000169981.11 chr3:44660129:+ ZNF197^ENSG00000186448.15 chr3:44646491:+ LH00995:25:23T55JLT4:6:2281:22309:24120 . YES_LDAS 0.0034 GT 1.053 AG 1.8295 "[""HGNC_GENEFAM"",""INTRACHROMOSOMAL[chr3:0.00Mb]"",""LOCAL_REARRANGEMENT:+:[261]""]" chr3:44660129-chr3:44646491 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 ZNF235--AP1AR 1 0 1.0 0.0 ONLY_REF_SPLICE ZNF235^ENSG00000159917.17 chr19:44298808:- AP1AR^ENSG00000138660.12 chr4:112253208:+ LH00995:25:23T55JLT4:8:2454:3378:1196 . YES_LDAS 0.0034 GT 1.9086 AG 1.8323 "[""INTERCHROMOSOMAL[chr19--chr4]""]" chr19:44298808-chr4:112253208 False 0 Read count too low: 1 < 8 FAIL 1 ZNF14--AC011487.1 1 0 0.5 0.0 INCL_NON_REF_SPLICE ZNF14^ENSG00000105708.9 chr19:19732956:- AC011487.1^ENSG00000213777.5 chr19:53503656:+ LH00995:25:23T55JLT4:5:1255:39055:16077 . YES_LDAS 0.0017 GT 1.7968 AG 1.7465 "[""INTRACHROMOSOMAL[chr19:33.77Mb]""]" chr19:19732956-chr19:53503656 False 0 Read count too low: 1 < 8 FAIL 1 ZNF138--TOX 1 0 0.2 0.0 ONLY_REF_SPLICE ZNF138^ENSG00000197008.10 chr7:64794571:+ TOX^ENSG00000198846.6 chr8:58960008:- LH00995:25:23T55JLT4:8:1206:23328:15321 . NO_LDAS 0.0007 GT 1.8323 AG 1.9329 "[""INTERCHROMOSOMAL[chr7--chr8]""]" chr7:64794571-chr8:58960008 False 0 Read count too low: 1 < 8 FAIL 1 ZNF114--BBS4 1 0 1.0 0.0 INCL_NON_REF_SPLICE ZNF114^ENSG00000178150.10 chr19:48286267:+ BBS4^ENSG00000140463.14 chr15:72736877:+ LH00995:25:23T55JLT4:6:1261:45503:9870 . YES_LDAS 0.0034 AT 1.8256 AC 1.8892 "[""INTERCHROMOSOMAL[chr19--chr15]""]" chr19:48286267-chr15:72736877 False 0 Read count too low: 1 < 8 FAIL 1 ZFP28--ZNF577 1 0 1.0 0.0 INCL_NON_REF_SPLICE ZFP28^ENSG00000196867.8 chr19:56555033:+ ZNF577^ENSG00000161551.14 chr19:51873288:- LH00995:25:23T55JLT4:6:1268:10126:25437 . NO_LDAS 0.0034 GT 1.9656 AG 1.7465 "[""HGNC_GENEFAM"",""INTRACHROMOSOMAL[chr19:4.65Mb]""]" chr19:56555033-chr19:51873288 False 0 Excluded annotation pattern: HGNC_GENEFAM FAIL 1 ZFAND4--CDIN1 1 0 1.0 0.0 ONLY_REF_SPLICE ZFAND4^ENSG00000172671.20 chr10:45663542:- CDIN1^ENSG00000186073.14 chr15:36808324:+ LH00995:25:23T55JLT4:6:1229:4365:19720 . YES_LDAS 0.0034 GT 1.8256 AG 1.9086 "[""INTERCHROMOSOMAL[chr10--chr15]""]" chr10:45663542-chr15:36808324 False 0 Read count too low: 1 < 8 FAIL 1 ZEB2-AS1--RPL6P27 1 0 1.0 0.0 INCL_NON_REF_SPLICE ZEB2-AS1^ENSG00000238057.10 chr2:144520021:+ RPL6P27^ENSG00000235552.4 chr18:6462994:- LH00995:25:23T55JLT4:5:2453:27228:14676 . NO_LDAS 0.0034 GT 1.2729 AG 1.8892 "[""INTERCHROMOSOMAL[chr2--chr18]""]" chr2:144520021-chr18:6462994 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 ZBTB8A--GZMH 1 0 1.0 0.0 INCL_NON_REF_SPLICE ZBTB8A^ENSG00000160062.15 chr1:32604014:+ GZMH^ENSG00000100450.13 chr14:24607279:- LH00995:25:23T55JLT4:8:2131:27996:27581 . YES_LDAS 0.0034 GT 1.9329 AG 1.7819 "[""INTERCHROMOSOMAL[chr1--chr14]""]" chr1:32604014-chr14:24607279 False 0 Read count too low: 1 < 8 FAIL 1 ZBTB46--ASTN1 1 0 1.0 0.0 INCL_NON_REF_SPLICE ZBTB46^ENSG00000130584.12 chr20:63744908:- ASTN1^ENSG00000152092.16 chr1:177032523:- LH00995:25:23T55JLT4:5:2188:37931:16035 . YES_LDAS 0.0034 GT 1.8892 AG 1.7465 "[""INTERCHROMOSOMAL[chr20--chr1]""]" chr20:63744908-chr1:177032523 False 0 Read count too low: 1 < 8 FAIL 1 ZBED3-AS1--PDE8B 1 0 1.0 0.0 ONLY_REF_SPLICE ZBED3-AS1^ENSG00000250802.7 chr5:77165500:+ PDE8B^ENSG00000113231.14 chr5:77311994:+ LH00995:25:23T55JLT4:8:2481:39403:7880 . YES_LDAS 0.0034 GT 1.7819 AG 1.8256 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr5:0.04Mb]"",""NEIGHBORS[43540]""]" chr5:77165500-chr5:77311994 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 Z93930.2--PFKFB2 1 0 1.0 0.0 ONLY_REF_SPLICE Z93930.2^ENSG00000226471.6 chr22:28800737:+ PFKFB2^ENSG00000123836.15 chr1:207054701:+ LH00995:25:23T55JLT4:8:2189:15894:13793 . NO_LDAS 0.0034 GT 1.9086 AG 1.9656 "[""INTERCHROMOSOMAL[chr22--chr1]""]" chr22:28800737-chr1:207054701 False 0 Read count too low: 1 < 8 FAIL 1 Z92544.1--AC132153.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE Z92544.1^ENSG00000261659.2 chr16:689403:+ AC132153.1^ENSG00000285755.2 chr2:57291429:- LH00995:25:23T55JLT4:6:1438:30973:1126 . NO_LDAS 0.0034 GT 1.8892 AG 1.9329 "[""INTERCHROMOSOMAL[chr16--chr2]""]" chr16:689403-chr2:57291429 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 XRCC6P1--CNGB1 1 0 0.5 0.0 INCL_NON_REF_SPLICE XRCC6P1^ENSG00000237417.1 chr10:93208645:- CNGB1^ENSG00000070729.14 chr16:57937129:- LH00995:25:23T55JLT4:6:2359:44629:15110 . NO_LDAS 0.0017 GT 1.9656 AG 1.9329 "[""INTERCHROMOSOMAL[chr10--chr16]""]" chr10:93208645-chr16:57937129 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 XKR9--AC022858.1 1 0 1.0 0.0 ONLY_REF_SPLICE XKR9^ENSG00000221947.8 chr8:70707153:+ AC022858.1^ENSG00000254031.6 chr8:71199140:+ LH00995:25:23T55JLT4:6:1346:7051:18824 . YES_LDAS 0.0034 GT 1.9656 AG 1.9219 "[""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr8:0.37Mb]""]" chr8:70707153-chr8:71199140 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 XKR9--AC022858.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE XKR9^ENSG00000221947.8 chr8:70779476:+ AC022858.1^ENSG00000254031.6 chr8:71199140:+ LH00995:25:23T55JLT4:8:1102:24437:15587 . YES_LDAS 0.0034 GT 1.9219 AG 1.9219 "[""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr8:0.37Mb]""]" chr8:70779476-chr8:71199140 False 0 Read count too low: 1 < 8 FAIL 1 VCAN-AS1--SERINC4 1 0 0.5 0.0 INCL_NON_REF_SPLICE VCAN-AS1^ENSG00000249835.2 chr5:83581148:- SERINC4^ENSG00000184716.13 chr15:43795799:- LH00995:25:23T55JLT4:8:2437:38497:19987 . YES_LDAS 0.0017 GT 1.9219 AG 1.7819 "[""INTERCHROMOSOMAL[chr5--chr15]""]" chr5:83581148-chr15:43795799 False 0 Read count too low: 1 < 8 FAIL 1 VAMP4--DNM3 1 0 1.0 0.0 ONLY_REF_SPLICE VAMP4^ENSG00000117533.15 chr1:171728524:- DNM3^ENSG00000197959.14 chr1:172131175:+ LH00995:25:23T55JLT4:8:2406:13936:7460 . YES_LDAS 0.0034 GT 1.8295 AG 1.8295 "[""INTRACHROMOSOMAL[chr1:0.10Mb]"",""LOCAL_INVERSION:-:+:[99424]""]" chr1:171728524-chr1:172131175 False 0 Read count too low: 1 < 8 FAIL 1 TXNP1--TXNP5 1 0 1.0 0.0 INCL_NON_REF_SPLICE TXNP1^ENSG00000232823.2 chr10:119683613:- TXNP5^ENSG00000228236.2 chr2:149068741:- LH00995:25:23T55JLT4:6:1260:35819:28548 . YES_LDAS 0.0034 GT 1.8892 AG 1.8256 "[""INTERCHROMOSOMAL[chr10--chr2]""]" chr10:119683613-chr2:149068741 False 0 Read count too low: 1 < 8 FAIL 1 TUFT1--EOGT 1 0 1.0 0.0 ONLY_REF_SPLICE TUFT1^ENSG00000143367.16 chr1:151564614:+ EOGT^ENSG00000163378.14 chr3:68987513:- LH00995:25:23T55JLT4:6:1128:7577:23434 . NO_LDAS 0.0034 GT 1.7819 AG 1.7465 "[""INTERCHROMOSOMAL[chr1--chr3]""]" chr1:151564614-chr3:68987513 False 0 Read count too low: 1 < 8 FAIL 1 TTC13--ECI1 1 0 1.0 0.0 ONLY_REF_SPLICE TTC13^ENSG00000143643.13 chr1:230978560:- ECI1^ENSG00000167969.13 chr16:2246986:- LH00995:25:23T55JLT4:6:2401:50042:19216 . YES_LDAS 0.0034 GT 1.6895 AG 1.7968 "[""INTERCHROMOSOMAL[chr1--chr16]""]" chr1:230978560-chr16:2246986 False 0 Read count too low: 1 < 8 FAIL 1 TRMT11--CENPW 1 0 1.0 0.0 ONLY_REF_SPLICE TRMT11^ENSG00000066651.20 chr6:126174911:+ CENPW^ENSG00000203760.9 chr6:126346205:+ LH00995:25:23T55JLT4:5:2230:1696:14087 . YES_LDAS 0.0034 GT 1.9329 AG 1.9656 "[""INTRACHROMOSOMAL[chr6:0.14Mb]""]" chr6:126174911-chr6:126346205 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 1 TPTE2P4--AC136428.3 1 0 0.14 0.0 ONLY_REF_SPLICE TPTE2P4^ENSG00000215506.5 chrY:26515708:+ AC136428.3^ENSG00000282924.1 chr16:33743850:- LH00995:25:23T55JLT4:6:2279:32397:1911 . NO_LDAS 0.0005 GT 1.8295 AG 1.9329 "[""INTERCHROMOSOMAL[chrY--chr16]""]" chrY:26515708-chr16:33743850 False 0 Read count too low: 1 < 8 FAIL 1 TPTE2P4--AC136428.3 1 0 0.14 0.0 ONLY_REF_SPLICE TPTE2P4^ENSG00000215506.5 chrY:26515708:+ AC136428.3^ENSG00000282924.1 chr16:33741976:- LH00995:25:23T55JLT4:6:2279:32397:1911 . NO_LDAS 0.0005 GT 1.8295 AG 1.9329 "[""INTERCHROMOSOMAL[chrY--chr16]""]" chrY:26515708-chr16:33741976 False 0 Read count too low: 1 < 8 FAIL 1 TPTE2P4--AC013734.1 1 0 0.33 0.0 INCL_NON_REF_SPLICE TPTE2P4^ENSG00000215506.5 chrY:26534484:+ AC013734.1^ENSG00000277146.1 chrY:26453985:+ LH00995:25:23T55JLT4:5:1189:45188:17871 . YES_LDAS 0.0011 GT 1.585 AG 1.8892 "[""INTRACHROMOSOMAL[chrY:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[54121]""]" chrY:26534484-chrY:26453985 False 0 Read count too low: 1 < 8 FAIL 1 TPTE2P4--AC007326.5 1 0 1.0 0.0 INCL_NON_REF_SPLICE TPTE2P4^ENSG00000215506.5 chrY:26515690:+ AC007326.5^ENSG00000284294.1 chr22:18939448:+ LH00995:25:23T55JLT4:8:1371:1113:13723 . NO_LDAS 0.0034 GT 1.8892 AG 1.5329 "[""INTERCHROMOSOMAL[chrY--chr22]""]" chrY:26515690-chr22:18939448 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 TNFRSF10D--AL138752.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE TNFRSF10D^ENSG00000173530.6 chr8:23145067:- AL138752.1^ENSG00000232454.2 chr9:37836277:+ LH00995:25:23T55JLT4:5:2284:33263:21626 . NO_LDAS 0.0034 GT 1.8892 AG 1.8892 "[""INTERCHROMOSOMAL[chr8--chr9]""]" chr8:23145067-chr9:37836277 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 TAS2R14--PRR4 1 0 1.0 0.0 ONLY_REF_SPLICE TAS2R14^ENSG00000212127.6 chr12:11034782:- PRR4^ENSG00000111215.12 chr12:10848407:- LH00995:25:23T55JLT4:8:1489:35552:2359 . YES_LDAS 0.0034 GT 1.6402 AG 1.8062 "[""INTRACHROMOSOMAL[chr12:0.09Mb]"",""NEIGHBORS[87933]""]" chr12:11034782-chr12:10848407 False 0 Read count too low: 1 < 8 FAIL 1 TAF13--IL20RB 1 0 1.0 0.0 ONLY_REF_SPLICE TAF13^ENSG00000197780.10 chr1:109074987:- IL20RB^ENSG00000174564.13 chr3:136980466:+ LH00995:25:23T55JLT4:6:2352:34792:11944 . YES_LDAS 0.0034 GT 1.5329 AG 1.9899 "[""INTERCHROMOSOMAL[chr1--chr3]""]" chr1:109074987-chr3:136980466 False 0 Read count too low: 1 < 8 FAIL 1 SWT1--PDE4B 1 0 1.0 0.0 ONLY_REF_SPLICE SWT1^ENSG00000116668.13 chr1:185206763:+ PDE4B^ENSG00000184588.18 chr1:66332508:+ LH00995:25:23T55JLT4:8:1434:23264:12714 . YES_LDAS 0.0034 GT 1.8295 AG 1.6402 "[""INTRACHROMOSOMAL[chr1:118.78Mb]""]" chr1:185206763-chr1:66332508 False 0 Read count too low: 1 < 8 FAIL 1 SVEP1--CDH18 1 0 1.0 0.0 ONLY_REF_SPLICE SVEP1^ENSG00000165124.18 chr9:110496815:- CDH18^ENSG00000145526.12 chr5:19839242:- LH00995:25:23T55JLT4:8:2463:32672:5750 . YES_LDAS 0.0034 GT 1.8892 AG 1.8256 "[""INTERCHROMOSOMAL[chr9--chr5]""]" chr9:110496815-chr5:19839242 False 0 Read count too low: 1 < 8 FAIL 1 STAC--LINC01947 1 0 0.5 0.0 INCL_NON_REF_SPLICE STAC^ENSG00000144681.11 chr3:36380754:+ LINC01947^ENSG00000254130.1 chr5:166926110:- LH00995:25:23T55JLT4:6:1144:6364:29403 . YES_LDAS 0.0017 GT 1.8062 AG 1.8892 "[""INTERCHROMOSOMAL[chr3--chr5]""]" chr3:36380754-chr5:166926110 False 0 Read count too low: 1 < 8 FAIL 1 STAC--CLEC4C 1 0 0.5 0.0 INCL_NON_REF_SPLICE STAC^ENSG00000144681.11 chr3:36380754:+ CLEC4C^ENSG00000198178.11 chr12:7751519:- LH00995:25:23T55JLT4:6:1144:6364:29403 . YES_LDAS 0.0017 GT 1.8062 AG 1.8892 "[""INTERCHROMOSOMAL[chr3--chr12]""]" chr3:36380754-chr12:7751519 False 0 Read count too low: 1 < 8 FAIL 1 ST8SIA6--ATP8B5P 1 0 1.0 0.0 ONLY_REF_SPLICE ST8SIA6^ENSG00000148488.17 chr10:17453559:- ATP8B5P^ENSG00000179766.19 chr9:35433707:+ LH00995:25:23T55JLT4:8:1297:2634:19328 . YES_LDAS 0.0034 GT 1.8062 AG 1.8295 "[""INTERCHROMOSOMAL[chr10--chr9]""]" chr10:17453559-chr9:35433707 False 0 Read count too low: 1 < 8 FAIL 1 SRGAP2C--AC244453.1 1 0 0.5 0.0 ONLY_REF_SPLICE SRGAP2C^ENSG00000171943.12 chr1:121324640:+ AC244453.1^ENSG00000227193.2 chr1:121120031:+ LH00995:25:23T55JLT4:6:1416:27632:12070 . YES_LDAS 0.0017 GT 1.7968 AG 1.6729 "[""INTRACHROMOSOMAL[chr1:0.04Mb]"",""LOCAL_REARRANGEMENT:+:[37985]""]" chr1:121324640-chr1:121120031 False 0 Read count too low: 1 < 8 FAIL 1 SPATA17--GULP1 1 0 1.0 0.0 ONLY_REF_SPLICE SPATA17^ENSG00000162814.11 chr1:217737967:+ GULP1^ENSG00000144366.16 chr2:188477659:+ LH00995:25:23T55JLT4:2:1161:27875:2009 . NO_LDAS 0.0034 GT 1.9329 AG 1.8256 "[""INTERCHROMOSOMAL[chr1--chr2]""]" chr1:217737967-chr2:188477659 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 1 SNHG6--PTCD2 1 0 1.0 0.0 ONLY_REF_SPLICE SNHG6^ENSG00000245910.8 chr8:66922614:- PTCD2^ENSG00000049883.15 chr5:72322172:+ LH00995:25:23T55JLT4:5:1243:25901:2009 . YES_LDAS 0.0034 GT 1.8892 AG 1.7465 "[""INTERCHROMOSOMAL[chr8--chr5]""]" chr8:66922614-chr5:72322172 False 0 Read count too low: 1 < 8 FAIL 1 SMURF2P1--LRRC37BP1 1 0 1.0 0.0 ONLY_REF_SPLICE SMURF2P1^ENSG00000248121.8 chr17:30610942:+ LRRC37BP1^ENSG00000250462.8 chr17:30633098:+ LH00995:25:23T55JLT4:6:1292:19696:23406 . YES_LDAS 0.0034 GT 1.7819 AG 1.9329 "[""Babiceanu_Normal"",""INTRACHROMOSOMAL[chr17:0.01Mb]"",""NEIGHBORS[13700]""]" chr17:30610942-chr17:30633098 False 0 Excluded annotation pattern: Babiceanu_Normal FAIL 1 SLC51A--CCDC73 1 0 1.0 0.0 INCL_NON_REF_SPLICE SLC51A^ENSG00000163959.10 chr3:196232631:+ CCDC73^ENSG00000186714.12 chr11:32602439:- LH00995:25:23T55JLT4:6:2189:11760:20001 . YES_LDAS 0.0034 GT 1.9656 AG 1.7232 "[""INTERCHROMOSOMAL[chr3--chr11]""]" chr3:196232631-chr11:32602439 False 0 Read count too low: 1 < 8 FAIL 1 SLC26A7--LRRC69 1 0 1.0 0.0 ONLY_REF_SPLICE SLC26A7^ENSG00000147606.9 chr8:91249844:+ LRRC69^ENSG00000214954.8 chr8:91200613:+ LH00995:25:23T55JLT4:8:2253:8605:28744 . YES_LDAS 0.0034 GT 1.8062 AG 1.6049 "[""INTRACHROMOSOMAL[chr8:0.01Mb]"",""NEIGHBORS_OVERLAP:+:+:[9742]""]" chr8:91249844-chr8:91200613 False 0 Read count too low: 1 < 8 FAIL 1 SH2D2A--AL355102.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE SH2D2A^ENSG00000027869.12 chr1:156815978:- AL355102.1^ENSG00000258412.1 chr14:96214672:+ LH00995:25:23T55JLT4:5:2326:22341:3354 . NO_LDAS 0.0034 GT 1.5546 AG 1.6402 "[""INTERCHROMOSOMAL[chr1--chr14]""]" chr1:156815978-chr14:96214672 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 SGPP2--AP003396.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE SGPP2^ENSG00000163082.10 chr2:222558696:+ AP003396.1^ENSG00000245385.2 chr11:119337094:- LH00995:25:23T55JLT4:6:2377:44128:2695 . YES_LDAS 0.0034 GT 1.7819 AG 1.9656 "[""INTERCHROMOSOMAL[chr2--chr11]""]" chr2:222558696-chr11:119337094 False 0 Read count too low: 1 < 8 FAIL 1 SGO1-AS1--PRR4 1 0 1.0 0.0 ONLY_REF_SPLICE SGO1-AS1^ENSG00000231304.2 chr3:20905607:+ PRR4^ENSG00000111215.12 chr12:10847367:- LH00995:25:23T55JLT4:5:2119:35302:14928 . YES_LDAS 0.0034 GT 1.7465 AG 1.8892 "[""INTERCHROMOSOMAL[chr3--chr12]""]" chr3:20905607-chr12:10847367 False 0 Read count too low: 1 < 8 FAIL 1 SEPTIN14--AP006222.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE SEPTIN14^ENSG00000154997.9 chr7:55795924:- AP006222.1^ENSG00000228463.10 chr1:268816:- LH00995:25:23T55JLT4:8:2468:50511:25634 . YES_LDAS 0.0034 GT 1.5546 AG 1.6895 "[""INTERCHROMOSOMAL[chr7--chr1]""]" chr7:55795924-chr1:268816 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 1 SEPTIN14--AC139099.2 1 0 0.5 0.0 INCL_NON_REF_SPLICE SEPTIN14^ENSG00000154997.9 chr7:55795924:- AC139099.2^ENSG00000262898.3 chr17:83212368:+ LH00995:25:23T55JLT4:6:2339:18887:19762 . YES_LDAS 0.0017 GT 1.5546 AG 1.9656 "[""INTERCHROMOSOMAL[chr7--chr17]""]" chr7:55795924-chr17:83212368 False 0 Read count too low: 1 < 8 FAIL 1 SDR9C7--PJVK 1 0 1.0 0.0 ONLY_REF_SPLICE SDR9C7^ENSG00000170426.2 chr12:56929390:- PJVK^ENSG00000204311.15 chr2:178460982:+ LH00995:25:23T55JLT4:8:1468:37688:15923 . YES_LDAS 0.0034 GT 1.7465 AG 1.5219 "[""INTERCHROMOSOMAL[chr12--chr2]""]" chr12:56929390-chr2:178460982 False 0 Read count too low: 1 < 8 FAIL 1 SDHAP3--AC026412.1 1 0 1.0 0.0 ONLY_REF_SPLICE SDHAP3^ENSG00000185986.12 chr5:1593113:- AC026412.1^ENSG00000188002.10 chr5:1599827:- LH00995:25:23T55JLT4:8:2311:42388:21150 . NO_LDAS 0.0034 GT 1.9656 AG 1.9656 "[""INTRACHROMOSOMAL[chr5:0.00Mb]"",""LOCAL_REARRANGEMENT:-:[4300]""]" chr5:1593113-chr5:1599827 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 1 SDHAP3--AC026412.1 1 0 1.0 0.0 ONLY_REF_SPLICE SDHAP3^ENSG00000185986.12 chr5:1584984:- AC026412.1^ENSG00000188002.10 chr5:1629630:- LH00995:25:23T55JLT4:5:1161:20901:24905 . YES_LDAS 0.0034 GT 1.9656 AG 1.7465 "[""INTRACHROMOSOMAL[chr5:0.00Mb]"",""LOCAL_REARRANGEMENT:-:[4300]""]" chr5:1584984-chr5:1629630 False 0 Read count too low: 1 < 8 FAIL 1 SCOC-AS1--AKAP7 1 0 1.0 0.0 INCL_NON_REF_SPLICE SCOC-AS1^ENSG00000196951.11 chr4:140291232:- AKAP7^ENSG00000118507.17 chr6:131145285:+ LH00995:25:23T55JLT4:5:2156:11962:12224 . NO_LDAS 0.0034 GT 1.9329 AG 1.8892 "[""INTERCHROMOSOMAL[chr4--chr6]""]" chr4:140291232-chr6:131145285 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 RUNDC3A--DDX59 1 0 1.0 0.0 INCL_NON_REF_SPLICE RUNDC3A^ENSG00000108309.14 chr17:44317125:+ DDX59^ENSG00000118197.14 chr1:200666751:- LH00995:25:23T55JLT4:5:2247:51902:8006 . YES_LDAS 0.0034 GT 1.8892 AG 1.5656 "[""INTERCHROMOSOMAL[chr17--chr1]""]" chr17:44317125-chr1:200666751 False 0 Read count too low: 1 < 8 FAIL 1 RRP15--AC125611.2 1 0 1.0 0.0 INCL_NON_REF_SPLICE RRP15^ENSG00000067533.6 chr1:218331142:+ AC125611.2^ENSG00000257954.1 chr12:49389749:+ LH00995:25:23T55JLT4:5:2355:7601:26362 . NO_LDAS 0.0034 GT 1.5628 AG 1.6049 "[""INTERCHROMOSOMAL[chr1--chr12]""]" chr1:218331142-chr12:49389749 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 RPL32P3--RPL32P25 1 0 1.0 0.0 INCL_NON_REF_SPLICE RPL32P3^ENSG00000251474.6 chr3:129397040:- RPL32P25^ENSG00000242993.1 chr11:95963312:+ LH00995:25:23T55JLT4:5:2124:49265:28576 . NO_LDAS 0.0034 GT 1.7968 AG 1.8256 "[""INTERCHROMOSOMAL[chr3--chr11]""]" chr3:129397040-chr11:95963312 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 RPL23AP59--RPL23AP78 1 0 1.0 0.0 INCL_NON_REF_SPLICE RPL23AP59^ENSG00000215002.2 chr10:106550150:+ RPL23AP78^ENSG00000269244.1 chr19:8729144:- LH00995:25:23T55JLT4:8:2261:16864:20183 . YES_LDAS 0.0034 GT 1.3383 AG 1.9656 "[""INTERCHROMOSOMAL[chr10--chr19]""]" chr10:106550150-chr19:8729144 False 0 Read count too low: 1 < 8 FAIL 1 RPL22P2--RPL22P4 1 0 0.25 0.0 INCL_NON_REF_SPLICE RPL22P2^ENSG00000241081.1 chr14:76886533:- RPL22P4^ENSG00000225483.1 chr1:206161088:- LH00995:25:23T55JLT4:8:1481:7763:22187 . NO_LDAS 0.0008 AT 1.9656 AC 1.7465 "[""INTERCHROMOSOMAL[chr14--chr1]""]" chr14:76886533-chr1:206161088 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 RNU5F-6P--CACNB2 1 0 1.0 0.0 INCL_NON_REF_SPLICE RNU5F-6P^ENSG00000199849.1 chr1:164351361:+ CACNB2^ENSG00000165995.22 chr10:18541050:+ LH00995:25:23T55JLT4:8:2368:42170:4153 . NO_LDAS 0.0034 GT 1.5301 AG 1.8892 "[""INTERCHROMOSOMAL[chr1--chr10]""]" chr1:164351361-chr10:18541050 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 RNFT1-DT--AC053481.3 1 0 0.25 0.0 ONLY_REF_SPLICE RNFT1-DT^ENSG00000267302.5 chr17:59966467:+ AC053481.3^ENSG00000266365.1 chr17:62231577:- LH00995:25:23T55JLT4:6:2189:23353:17072 . YES_LDAS 0.0008 GT 1.9329 AG 1.8892 "[""INTRACHROMOSOMAL[chr17:2.23Mb]""]" chr17:59966467-chr17:62231577 False 0 Read count too low: 1 < 8 FAIL 1 REREP1Y--PPP1R12BP1 1 0 0.25 0.0 ONLY_REF_SPLICE REREP1Y^ENSG00000225189.1 chrY:23472280:+ PPP1R12BP1^ENSG00000229238.3 chrY:26291137:- LH00995:25:23T55JLT4:5:1189:4649:27161 . YES_LDAS 0.0008 GT 1.7232 AG 1.8323 "[""INTRACHROMOSOMAL[chrY:2.81Mb]""]" chrY:23472280-chrY:26291137 False 0 Read count too low: 1 < 8 FAIL 1 REPIN1-AS1--ZNF169 1 0 1.0 0.0 INCL_NON_REF_SPLICE REPIN1-AS1^ENSG00000240449.1 chr7:150372340:- ZNF169^ENSG00000175787.17 chr9:94300591:+ LH00995:25:23T55JLT4:6:1467:41830:19454 . NO_LDAS 0.0034 GT 1.6729 AG 1.5219 "[""INTERCHROMOSOMAL[chr7--chr9]""]" chr7:150372340-chr9:94300591 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 REPIN1-AS1--AC091390.1 1 0 0.25 0.0 INCL_NON_REF_SPLICE REPIN1-AS1^ENSG00000240449.1 chr7:150372505:- AC091390.1^ENSG00000170409.7 chr7:102327347:- LH00995:25:23T55JLT4:8:2314:15797:13149 . YES_LDAS 0.0008 GT 1.7465 AG 1.8892 "[""INTRACHROMOSOMAL[chr7:48.03Mb]""]" chr7:150372505-chr7:102327347 False 0 Read count too low: 1 < 8 FAIL 1 RASL12--PAAF1 1 0 1.0 0.0 INCL_NON_REF_SPLICE RASL12^ENSG00000103710.11 chr15:65054980:- PAAF1^ENSG00000175575.13 chr11:73927977:+ LH00995:25:23T55JLT4:8:2208:51635:12308 . YES_LDAS 0.0034 GT 1.7819 AG 1.7819 "[""INTERCHROMOSOMAL[chr15--chr11]""]" chr15:65054980-chr11:73927977 False 0 Read count too low: 1 < 8 FAIL 1 RALGPS1--STRBP 1 0 1.0 0.0 ONLY_REF_SPLICE RALGPS1^ENSG00000136828.19 chr9:127069356:+ STRBP^ENSG00000165209.19 chr9:123184298:- LH00995:25:23T55JLT4:5:2473:17075:18838 . YES_LDAS 0.0034 GT 1.8892 AG 1.9329 "[""INTRACHROMOSOMAL[chr9:3.65Mb]""]" chr9:127069356-chr9:123184298 False 0 Read count too low: 1 < 8 FAIL 1 RAB33B--AC104187.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE RAB33B^ENSG00000172007.7 chr4:139454306:+ AC104187.1^ENSG00000271937.1 chr3:44338529:- LH00995:25:23T55JLT4:8:1426:47469:17787 . NO_LDAS 0.0034 GT 1.7819 AG 1.7465 "[""INTERCHROMOSOMAL[chr4--chr3]""]" chr4:139454306-chr3:44338529 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 PSAT1--GOLGA6L10 1 0 0.2 0.0 INCL_NON_REF_SPLICE PSAT1^ENSG00000135069.14 chr9:78329596:+ GOLGA6L10^ENSG00000278662.5 chr15:82344767:- LH00995:25:23T55JLT4:8:2443:6509:11271 . YES_LDAS 0.0007 GT 1.8295 AG 1.8892 "[""INTERCHROMOSOMAL[chr9--chr15]""]" chr9:78329596-chr15:82344767 False 0 Read count too low: 1 < 8 FAIL 1 PRR16--AC114284.1 1 0 1.0 0.0 ONLY_REF_SPLICE PRR16^ENSG00000184838.15 chr5:120481293:+ AC114284.1^ENSG00000248927.1 chr5:120789954:+ LH00995:25:23T55JLT4:8:2154:12019:7025 . YES_LDAS 0.0034 GT 1.7968 AG 1.9329 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr5:0.09Mb]"",""NEIGHBORS[93886]""]" chr5:120481293-chr5:120789954 False 0 Excluded annotation pattern: GTEx_recurrent_StarF2019 FAIL 1 POU5F1--AC142116.2 1 0 1.0 0.0 INCL_NON_REF_SPLICE POU5F1^ENSG00000204531.20 chr6:31165927:- AC142116.2^ENSG00000286515.1 chr2:126202947:+ LH00995:25:23T55JLT4:6:1198:23385:24471 . NO_LDAS 0.0034 GT 1.5628 AG 1.9656 "[""INTERCHROMOSOMAL[chr6--chr2]""]" chr6:31165927-chr2:126202947 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 POLE2--LINC01091 1 0 1.0 0.0 INCL_NON_REF_SPLICE POLE2^ENSG00000100479.13 chr14:49674123:- LINC01091^ENSG00000249464.6 chr4:123708612:+ LH00995:25:23T55JLT4:5:2256:40059:22943 . NO_LDAS 0.0034 GT 1.9329 AG 1.5301 "[""INTERCHROMOSOMAL[chr14--chr4]""]" chr14:49674123-chr4:123708612 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 PLPP1--ZNF543 1 0 1.0 0.0 ONLY_REF_SPLICE PLPP1^ENSG00000067113.17 chr5:55534572:- ZNF543^ENSG00000178229.8 chr19:57323682:+ LH00995:25:23T55JLT4:5:2219:40665:16820 . YES_LDAS 0.0034 GT 1.5219 AG 1.7465 "[""INTERCHROMOSOMAL[chr5--chr19]""]" chr5:55534572-chr19:57323682 False 0 Read count too low: 1 < 8 FAIL 1 PLGLB1--AL109933.1 1 0 0.25 0.0 ONLY_REF_SPLICE PLGLB1^ENSG00000183281.15 chr2:87016302:- AL109933.1^ENSG00000224477.5 chr6:160700554:+ LH00995:25:23T55JLT4:6:1195:45244:15839 . NO_LDAS 0.0008 GT 1.3996 AG 1.9219 "[""INTERCHROMOSOMAL[chr2--chr6]""]" chr2:87016302-chr6:160700554 False 0 Read count too low: 1 < 8 FAIL 1 PLEKHS1--UPK3BL2 1 0 1.0 0.0 INCL_NON_REF_SPLICE PLEKHS1^ENSG00000148735.15 chr10:113782760:+ UPK3BL2^ENSG00000284981.1 chr7:102541662:- LH00995:25:23T55JLT4:6:1321:13968:15166 . YES_LDAS 0.0034 GT 1.9086 AG 1.7465 "[""INTERCHROMOSOMAL[chr10--chr7]""]" chr10:113782760-chr7:102541662 False 0 Read count too low: 1 < 8 FAIL 1 PINX1--RP1L1 1 0 1.0 0.0 ONLY_REF_SPLICE PINX1^ENSG00000254093.9 chr8:10826152:- RP1L1^ENSG00000183638.6 chr8:10623220:- LH00995:25:23T55JLT4:5:1442:46911:23938 . YES_LDAS 0.0034 GT 1.7232 AG 1.4566 "[""INTRACHROMOSOMAL[chr8:0.05Mb]"",""NEIGHBORS[52774]""]" chr8:10826152-chr8:10623220 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 PINX1--RP1L1 1 0 1.0 0.0 ONLY_REF_SPLICE PINX1^ENSG00000254093.9 chr8:10820193:- RP1L1^ENSG00000183638.6 chr8:10623220:- LH00995:25:23T55JLT4:5:1396:15101:3032 . YES_LDAS 0.0034 GT 1.8062 AG 1.4566 "[""INTRACHROMOSOMAL[chr8:0.05Mb]"",""NEIGHBORS[52774]""]" chr8:10820193-chr8:10623220 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 1 PGM2L1--SORBS2 1 0 1.0 0.0 ONLY_REF_SPLICE PGM2L1^ENSG00000165434.8 chr11:74398051:- SORBS2^ENSG00000154556.18 chr4:185662242:- LH00995:25:23T55JLT4:6:1417:23328:12294 . YES_LDAS 0.0034 GT 1.9656 AG 1.8892 "[""INTERCHROMOSOMAL[chr11--chr4]""]" chr11:74398051-chr4:185662242 False 0 Read count too low: 1 < 8 FAIL 1 PEX11B--AC087500.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE PEX11B^ENSG00000131779.11 chr1:145916817:- AC087500.1^ENSG00000261879.7 chr17:5234119:+ LH00995:25:23T55JLT4:5:2128:34023:25858 . NO_LDAS 0.0034 GT 1.9656 AG 1.9329 "[""INTERCHROMOSOMAL[chr1--chr17]""]" chr1:145916817-chr17:5234119 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 PDRG1--BMS1P10 1 0 1.0 0.0 ONLY_REF_SPLICE PDRG1^ENSG00000088356.6 chr20:31948808:- BMS1P10^ENSG00000237238.3 chr9:63309312:- LH00995:25:23T55JLT4:8:2359:12455:12854 . YES_LDAS 0.0034 GT 1.371 AG 1.6402 "[""INTERCHROMOSOMAL[chr20--chr9]""]" chr20:31948808-chr9:63309312 False 0 Read count too low: 1 < 8 FAIL 1 PCLAF--CDKL3 1 0 1.0 0.0 ONLY_REF_SPLICE PCLAF^ENSG00000166803.14 chr15:64376743:- CDKL3^ENSG00000006837.12 chr5:134312380:- LH00995:25:23T55JLT4:6:1316:36515:18684 . YES_LDAS 0.0034 GT 1.053 AG 1.7968 "[""INTERCHROMOSOMAL[chr15--chr5]""]" chr15:64376743-chr5:134312380 False 0 Read count too low: 1 < 8 FAIL 1 PCDHGA9--PCDHGB5 1 0 1.0 0.0 INCL_NON_REF_SPLICE PCDHGA9^ENSG00000261934.2 chr5:141405376:+ PCDHGB5^ENSG00000276547.1 chr5:141398677:+ LH00995:25:23T55JLT4:8:2226:39735:12406 . YES_LDAS 0.0034 GT 1.7819 AG 1.7056 "[""HGNC_GENEFAM"",""INTRACHROMOSOMAL[chr5:0.00Mb]"",""LOCAL_REARRANGEMENT:+:[2276]""]" chr5:141405376-chr5:141398677 False 0 Excluded annotation pattern: HGNC_GENEFAM FAIL 1 PCDH18--AL109615.1 1 0 0.17 0.0 INCL_NON_REF_SPLICE PCDH18^ENSG00000189184.12 chr4:137531230:- AL109615.1^ENSG00000183239.5 chr6:44089457:- LH00995:25:23T55JLT4:5:2485:34654:2597 . YES_LDAS 0.0006 GT 1.8062 AG 1.9899 "[""INTERCHROMOSOMAL[chr4--chr6]""]" chr4:137531230-chr6:44089457 False 0 Read count too low: 1 < 8 FAIL 1 PAXIP1-AS2--VNN2 1 0 1.0 0.0 ONLY_REF_SPLICE PAXIP1-AS2^ENSG00000214106.9 chr7:154944398:+ VNN2^ENSG00000112303.14 chr6:132757759:- LH00995:25:23T55JLT4:5:1360:39711:1715 . YES_LDAS 0.0034 GT 1.8892 AG 1.8256 "[""INTERCHROMOSOMAL[chr7--chr6]""]" chr7:154944398-chr6:132757759 False 0 Read count too low: 1 < 8 FAIL 1 PADI1--NEDD8P1 1 0 1.0 0.0 INCL_NON_REF_SPLICE PADI1^ENSG00000142623.11 chr1:17245946:+ NEDD8P1^ENSG00000226970.2 chr1:84244494:+ LH00995:25:23T55JLT4:8:2311:7933:14550 . NO_LDAS 0.0034 GT 1.9086 AG 1.9656 "[""INTRACHROMOSOMAL[chr1:67.00Mb]""]" chr1:17245946-chr1:84244494 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 PACC1--LINC02608 1 0 1.0 0.0 ONLY_REF_SPLICE PACC1^ENSG00000065600.13 chr1:212377562:- LINC02608^ENSG00000226251.6 chr1:212230259:- LH00995:25:23T55JLT4:6:1181:26055:9758 . YES_LDAS 0.0034 GT 1.8295 AG 1.9656 "[""INTRACHROMOSOMAL[chr1:0.12Mb]""]" chr1:212377562-chr1:212230259 False 0 Read count too low: 1 < 8 FAIL 1 OR2B11--AL358334.3 1 0 0.25 0.0 INCL_NON_REF_SPLICE OR2B11^ENSG00000177535.8 chr1:247453769:- AL358334.3^ENSG00000258745.1 chr14:50912995:+ LH00995:25:23T55JLT4:6:1238:25707:26755 . NO_LDAS 0.0008 GT 1.9656 AG 1.7465 "[""INTERCHROMOSOMAL[chr1--chr14]""]" chr1:247453769-chr14:50912995 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 NVL--MMP10 1 0 1.0 0.0 INCL_NON_REF_SPLICE NVL^ENSG00000143748.18 chr1:224317888:- MMP10^ENSG00000166670.10 chr11:102770861:- LH00995:25:23T55JLT4:8:1422:39581:26488 . YES_LDAS 0.0034 GT 1.8892 AG 1.8892 "[""INTERCHROMOSOMAL[chr1--chr11]""]" chr1:224317888-chr11:102770861 False 0 Read count too low: 1 < 8 FAIL 1 NTF6A--CGB1 1 0 0.33 0.0 INCL_NON_REF_SPLICE NTF6A^ENSG00000267019.1 chr19:49025643:- CGB1^ENSG00000267631.5 chr19:49048372:- LH00995:25:23T55JLT4:8:2309:45099:24274 . YES_LDAS 0.0011 GT 1.5546 AG 1.5058 "[""INTRACHROMOSOMAL[chr19:0.01Mb]"",""LOCAL_REARRANGEMENT:-:[9549]""]" chr19:49025643-chr19:49048372 False 0 Read count too low: 1 < 8 FAIL 1 NTF6A--CGB1 1 0 0.33 0.0 INCL_NON_REF_SPLICE NTF6A^ENSG00000267019.1 chr19:49025643:- CGB1^ENSG00000267631.5 chr19:49036303:- LH00995:25:23T55JLT4:8:2309:45099:24274 . YES_LDAS 0.0011 GT 1.5546 AG 1.7819 "[""INTRACHROMOSOMAL[chr19:0.01Mb]"",""LOCAL_REARRANGEMENT:-:[9549]""]" chr19:49025643-chr19:49036303 False 0 Read count too low: 1 < 8 FAIL 1 NT5M--AC004846.2 1 0 0.17 0.0 INCL_NON_REF_SPLICE NT5M^ENSG00000205309.14 chr17:17303823:+ AC004846.2^ENSG00000258944.1 chr14:73272621:- LH00995:25:23T55JLT4:5:1240:44637:11705 . NO_LDAS 0.0006 GT 1.7232 AG 1.8256 "[""INTERCHROMOSOMAL[chr17--chr14]""]" chr17:17303823-chr14:73272621 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 NSUN5P2--CORO6 1 0 0.5 0.0 INCL_NON_REF_SPLICE NSUN5P2^ENSG00000106133.18 chr7:72948528:- CORO6^ENSG00000167549.18 chr17:29616776:- LH00995:25:23T55JLT4:8:1219:21888:17955 . NO_LDAS 0.0017 GC 0.9183 AG 1.5656 "[""INTERCHROMOSOMAL[chr7--chr17]""]" chr7:72948528-chr17:29616776 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 1 NPM1P12--NPM1P11 1 0 0.5 0.0 INCL_NON_REF_SPLICE NPM1P12^ENSG00000215311.3 chr7:149334345:+ NPM1P11^ENSG00000226827.1 chr7:11258217:- LH00995:25:23T55JLT4:5:1438:3281:20841 . NO_LDAS 0.0017 GT 1.9899 AG 1.9656 "[""INTRACHROMOSOMAL[chr7:138.08Mb]""]" chr7:149334345-chr7:11258217 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 NPIPB14P--CDH18 1 0 1.0 0.0 INCL_NON_REF_SPLICE NPIPB14P^ENSG00000226232.8 chr16:69996065:- CDH18^ENSG00000145526.12 chr5:19473575:- LH00995:25:23T55JLT4:5:2271:50284:26082 . NO_LDAS 0.0034 GT 1.8323 AG 1.9656 "[""INTERCHROMOSOMAL[chr16--chr5]""]" chr16:69996065-chr5:19473575 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 NLRP14--ZNF215 1 0 1.0 0.0 ONLY_REF_SPLICE NLRP14^ENSG00000158077.5 chr11:7070456:+ ZNF215^ENSG00000149054.16 chr11:6943546:+ LH00995:25:23T55JLT4:5:1398:45746:27357 . YES_LDAS 0.0034 GT 1.9656 AG 1.5656 "[""INTRACHROMOSOMAL[chr11:0.02Mb]"",""LOCAL_REARRANGEMENT:+:[19475]""]" chr11:7070456-chr11:6943546 False 0 Read count too low: 1 < 8 FAIL 1 NKX2-5--CALHM5 1 0 1.0 0.0 INCL_NON_REF_SPLICE NKX2-5^ENSG00000183072.10 chr5:173233062:- CALHM5^ENSG00000178033.6 chr6:116517928:+ LH00995:25:23T55JLT4:6:2157:52064:23364 . YES_LDAS 0.0034 GT 1.9329 AG 1.9656 "[""INTERCHROMOSOMAL[chr5--chr6]""]" chr5:173233062-chr6:116517928 False 0 Read count too low: 1 < 8 FAIL 1 NKX2-2--AL133325.3 1 0 1.0 0.0 INCL_NON_REF_SPLICE NKX2-2^ENSG00000125820.6 chr20:21512349:- AL133325.3^ENSG00000278041.1 chr20:21502309:- LH00995:25:23T55JLT4:8:1206:23320:19230 . YES_LDAS 0.0034 GT 1.5219 AG 1.7968 "[""INTRACHROMOSOMAL[chr20:0.01Mb]"",""NEIGHBORS[8083]""]" chr20:21512349-chr20:21502309 False 0 Read count too low: 1 < 8 FAIL 1 NIFK-AS1--AC079305.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE NIFK-AS1^ENSG00000236859.7 chr2:121651919:+ AC079305.1^ENSG00000222043.2 chr2:177264525:+ LH00995:25:23T55JLT4:5:2326:7399:8833 . YES_LDAS 0.0034 GT 1.9656 AG 1.8323 "[""INTRACHROMOSOMAL[chr2:55.54Mb]""]" chr2:121651919-chr2:177264525 False 0 Read count too low: 1 < 8 FAIL 1 NDUFS4--RWDD1 1 0 1.0 0.0 ONLY_REF_SPLICE NDUFS4^ENSG00000164258.12 chr5:53604895:+ RWDD1^ENSG00000111832.13 chr6:116580295:+ LH00995:25:23T55JLT4:5:1135:47776:8847 . YES_LDAS 0.0034 GT 1.8062 AG 1.6895 "[""INTERCHROMOSOMAL[chr5--chr6]""]" chr5:53604895-chr6:116580295 False 0 Read count too low: 1 < 8 FAIL 1 MRPL40--NSUN6 1 0 1.0 0.0 INCL_NON_REF_SPLICE MRPL40^ENSG00000185608.9 chr22:19436042:+ NSUN6^ENSG00000241058.4 chr10:18546091:- LH00995:25:23T55JLT4:5:2128:16654:2920 . YES_LDAS 0.0034 GC 1.9329 AG 1.9656 "[""INTERCHROMOSOMAL[chr22--chr10]""]" chr22:19436042-chr10:18546091 False 0 Read count too low: 1 < 8 FAIL 1 MORN2--CYP2U1 1 0 1.0 0.0 INCL_NON_REF_SPLICE MORN2^ENSG00000188010.15 chr2:38881480:+ CYP2U1^ENSG00000155016.18 chr4:107949416:+ LH00995:25:23T55JLT4:8:2401:14640:12770 . YES_LDAS 0.0034 GT 1.9656 AG 1.9656 "[""INTERCHROMOSOMAL[chr2--chr4]""]" chr2:38881480-chr4:107949416 False 0 Read count too low: 1 < 8 FAIL 1 MMP3--SGK2 1 0 1.0 0.0 ONLY_REF_SPLICE MMP3^ENSG00000149968.12 chr11:102843442:- SGK2^ENSG00000101049.17 chr20:43566473:+ LH00995:25:23T55JLT4:8:1119:38934:22565 . YES_LDAS 0.0034 GT 1.9656 AG 1.9656 "[""INTERCHROMOSOMAL[chr11--chr20]""]" chr11:102843442-chr20:43566473 False 0 Read count too low: 1 < 8 FAIL 1 MIR548XHG--TMPRSS15 1 0 1.0 0.0 ONLY_REF_SPLICE MIR548XHG^ENSG00000224141.6 chr21:18737924:- TMPRSS15^ENSG00000154646.9 chr21:18398329:- LH00995:25:23T55JLT4:6:1263:45099:25311 . YES_LDAS 0.0034 GT 1.8892 AG 1.9656 "[""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr21:0.08Mb]"",""NEIGHBORS[75386]""]" chr21:18737924-chr21:18398329 False 0 Read count too low: 1 < 8 FAIL 1 MCUB--C5orf64 1 0 1.0 0.0 INCL_NON_REF_SPLICE MCUB^ENSG00000005059.16 chr4:109560436:+ C5orf64^ENSG00000178722.13 chr5:61757477:+ LH00995:25:23T55JLT4:6:2341:10198:9646 . NO_LDAS 0.0034 GT 1.3753 AG 1.5329 "[""INTERCHROMOSOMAL[chr4--chr5]""]" chr4:109560436-chr5:61757477 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 MCIDAS--SMIM32 1 0 0.5 0.0 INCL_NON_REF_SPLICE MCIDAS^ENSG00000234602.9 chr5:55222252:- SMIM32^ENSG00000271824.2 chr5:136192929:- LH00995:25:23T55JLT4:6:2458:28182:3242 . NO_LDAS 0.0017 GC 1.7232 AG 1.371 "[""INTRACHROMOSOMAL[chr5:80.96Mb]""]" chr5:55222252-chr5:136192929 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 LYPLAL1--NOX4 1 0 1.0 0.0 ONLY_REF_SPLICE LYPLAL1^ENSG00000143353.12 chr1:219193251:+ NOX4^ENSG00000086991.13 chr11:89355043:- LH00995:25:23T55JLT4:8:2330:35560:7165 . YES_LDAS 0.0034 GT 1.7465 AG 1.9086 "[""INTERCHROMOSOMAL[chr1--chr11]""]" chr1:219193251-chr11:89355043 False 0 Read count too low: 1 < 8 FAIL 1 LYPLA1P3--CDKL1 1 0 1.0 0.0 INCL_NON_REF_SPLICE LYPLA1P3^ENSG00000218350.1 chr6:71165176:+ CDKL1^ENSG00000100490.10 chr14:50359149:- LH00995:25:23T55JLT4:5:1160:48375:27315 . YES_LDAS 0.0034 GC 1.8062 AG 1.6895 "[""INTERCHROMOSOMAL[chr6--chr14]""]" chr6:71165176-chr14:50359149 False 0 Read count too low: 1 < 8 FAIL 1 LYPD6B--AC016682.1 1 0 1.0 0.0 ONLY_REF_SPLICE LYPD6B^ENSG00000150556.17 chr2:149130953:+ AC016682.1^ENSG00000286081.1 chr2:150152832:- LH00995:25:23T55JLT4:8:1494:37915:1406 . YES_LDAS 0.0034 GT 1.9086 AG 1.9219 "[""INTRACHROMOSOMAL[chr2:0.94Mb]""]" chr2:149130953-chr2:150152832 False 0 Read count too low: 1 < 8 FAIL 1 LRRC49--CHORDC1P4 1 0 1.0 0.0 INCL_NON_REF_SPLICE LRRC49^ENSG00000137821.12 chr15:70911598:+ CHORDC1P4^ENSG00000263606.1 chr18:2946422:- LH00995:25:23T55JLT4:8:1188:39476:9015 . YES_LDAS 0.0034 GT 1.9656 AG 1.4295 "[""INTERCHROMOSOMAL[chr15--chr18]""]" chr15:70911598-chr18:2946422 False 0 Read count too low: 1 < 8 FAIL 1 LRIT3--RRH 1 0 1.0 0.0 ONLY_REF_SPLICE LRIT3^ENSG00000183423.12 chr4:109851976:+ RRH^ENSG00000180245.7 chr4:109833139:+ LH00995:25:23T55JLT4:5:2116:30650:12588 . YES_LDAS 0.0034 GT 1.8892 AG 1.5219 "[""INTRACHROMOSOMAL[chr4:0.00Mb]"",""NEIGHBORS_OVERLAP:+:+:[1016]""]" chr4:109851976-chr4:109833139 False 0 Read count too low: 1 < 8 FAIL 1 LINC02109--HENMT1 1 0 1.0 0.0 ONLY_REF_SPLICE LINC02109^ENSG00000259786.7 chr5:29193115:+ HENMT1^ENSG00000162639.16 chr1:108659962:- LH00995:25:23T55JLT4:5:1132:5126:2990 . YES_LDAS 0.0034 GT 1.9656 AG 1.9656 "[""INTERCHROMOSOMAL[chr5--chr1]""]" chr5:29193115-chr1:108659962 False 0 Read count too low: 1 < 8 FAIL 1 LINC01297--POTEH 1 0 1.0 0.0 ONLY_REF_SPLICE LINC01297^ENSG00000274827.4 chr14:19381177:- POTEH^ENSG00000198062.15 chr22:15698662:+ LH00995:25:23T55JLT4:8:2271:35180:20295 . YES_LDAS 0.0034 GT 1.8256 AG 1.7968 "[""INTERCHROMOSOMAL[chr14--chr22]""]" chr14:19381177-chr22:15698662 False 0 Read count too low: 1 < 8 FAIL 1 LINC00311--ADCY4 1 0 0.5 0.0 INCL_NON_REF_SPLICE LINC00311^ENSG00000179219.5 chr16:85283485:+ ADCY4^ENSG00000129467.14 chr14:24325887:- LH00995:25:23T55JLT4:6:1385:3023:11145 . NO_LDAS 0.0017 GC 1.7056 AG 1.9086 "[""INTERCHROMOSOMAL[chr16--chr14]""]" chr16:85283485-chr14:24325887 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 KYNU--ARHGAP15 1 0 1.0 0.0 ONLY_REF_SPLICE KYNU^ENSG00000115919.15 chr2:142986021:+ ARHGAP15^ENSG00000075884.14 chr2:143155477:+ LH00995:25:23T55JLT4:6:1285:24744:5890 . YES_LDAS 0.0034 GT 1.9329 AG 1.7968 "[""TCGA_StarF2019"",""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr2:0.04Mb]"",""NEIGHBORS[35529]""]" chr2:142986021-chr2:143155477 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 KLHL20--AC093515.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE KLHL20^ENSG00000076321.11 chr1:173716066:+ AC093515.1^ENSG00000260289.2 chr16:8112494:- LH00995:25:23T55JLT4:8:2171:13968:23686 . NO_LDAS 0.0034 GT 1.8062 AG 1.7056 "[""INTERCHROMOSOMAL[chr1--chr16]""]" chr1:173716066-chr16:8112494 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 KLF3-AS1--AL157400.5 1 0 1.0 0.0 INCL_NON_REF_SPLICE KLF3-AS1^ENSG00000231160.10 chr4:38664440:- AL157400.5^ENSG00000249962.1 chr10:89644935:- LH00995:25:23T55JLT4:6:2128:15303:25269 . NO_LDAS 0.0034 GC 1.4716 AG 1.5628 "[""INTERCHROMOSOMAL[chr4--chr10]""]" chr4:38664440-chr10:89644935 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 KCTD6--CARF 1 0 0.5 0.0 ONLY_REF_SPLICE KCTD6^ENSG00000168301.13 chr3:58500403:+ CARF^ENSG00000138380.18 chr2:202952559:+ LH00995:25:23T55JLT4:8:1473:4204:3438 . NO_LDAS 0.0017 GT 1.9329 AG 1.9899 "[""INTERCHROMOSOMAL[chr3--chr2]""]" chr3:58500403-chr2:202952559 False 0 Read count too low: 1 < 8 FAIL 1 KANTR--AL158151.1 1 0 0.5 0.0 INCL_NON_REF_SPLICE KANTR^ENSG00000232593.7 chrX:53143269:+ AL158151.1^ENSG00000204055.5 chr9:129176874:+ LH00995:25:23T55JLT4:5:1278:13653:9547 . YES_LDAS 0.0017 GT 1.8892 AG 1.6895 "[""INTERCHROMOSOMAL[chrX--chr9]""]" chrX:53143269-chr9:129176874 False 0 Read count too low: 1 < 8 FAIL 1 ITGA9--C3orf35 1 0 1.0 0.0 INCL_NON_REF_SPLICE ITGA9^ENSG00000144668.12 chr3:37542585:+ C3orf35^ENSG00000198590.12 chr3:37383226:+ LH00995:25:23T55JLT4:5:1155:47008:26012 . YES_LDAS 0.0034 GT 1.9219 AG 1.8892 "[""INTRACHROMOSOMAL[chr3:0.01Mb]"",""LOCAL_REARRANGEMENT:+:[11929]""]" chr3:37542585-chr3:37383226 False 0 Read count too low: 1 < 8 FAIL 1 IRAK1BP1--OR10U1P 1 0 1.0 0.0 INCL_NON_REF_SPLICE IRAK1BP1^ENSG00000146243.14 chr6:78867891:+ OR10U1P^ENSG00000227423.2 chr12:55194013:- LH00995:25:23T55JLT4:5:2447:6040:8188 . NO_LDAS 0.0034 GT 1.7465 AG 1.6895 "[""INTERCHROMOSOMAL[chr6--chr12]""]" chr6:78867891-chr12:55194013 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 INTS12--RBPMS2 1 0 1.0 0.0 INCL_NON_REF_SPLICE INTS12^ENSG00000138785.15 chr4:105686788:- RBPMS2^ENSG00000166831.9 chr15:64748493:- LH00995:25:23T55JLT4:5:2196:4018:11523 . YES_LDAS 0.0034 GT 1.7465 AG 1.7232 "[""INTERCHROMOSOMAL[chr4--chr15]""]" chr4:105686788-chr15:64748493 False 0 Read count too low: 1 < 8 FAIL 1 IL12RB2--SKAP1 1 0 1.0 0.0 ONLY_REF_SPLICE IL12RB2^ENSG00000081985.13 chr1:67314000:+ SKAP1^ENSG00000141293.16 chr17:48189500:- LH00995:25:23T55JLT4:5:2363:3249:1028 . YES_LDAS 0.0034 GT 1.7819 AG 1.8323 "[""INTERCHROMOSOMAL[chr1--chr17]""]" chr1:67314000-chr17:48189500 False 0 Read count too low: 1 < 8 FAIL 1 IFTAP--LINC02408 1 0 1.0 0.0 INCL_NON_REF_SPLICE IFTAP^ENSG00000166352.18 chr11:36659208:+ LINC02408^ENSG00000203585.4 chr12:67567064:+ LH00995:25:23T55JLT4:5:1354:14357:19454 . NO_LDAS 0.0034 GT 1.6895 AG 1.8892 "[""INTERCHROMOSOMAL[chr11--chr12]""]" chr11:36659208-chr12:67567064 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 IFT43--GPR65 1 0 1.0 0.0 ONLY_REF_SPLICE IFT43^ENSG00000119650.13 chr14:75988977:+ GPR65^ENSG00000140030.6 chr14:88010389:+ LH00995:25:23T55JLT4:2:1151:41369:12546 . YES_LDAS 0.0034 GT 1.9656 AG 1.5301 "[""INTRACHROMOSOMAL[chr14:11.92Mb]""]" chr14:75988977-chr14:88010389 False 0 Read count too low: 1 < 8 FAIL 1 HULC--C5orf46 1 0 1.0 0.0 ONLY_REF_SPLICE HULC^ENSG00000285219.2 chr6:8965457:+ C5orf46^ENSG00000178776.5 chr5:147901773:- LH00995:25:23T55JLT4:6:1126:33562:2639 . YES_LDAS 0.0034 GT 1.9329 AG 1.3996 "[""INTERCHROMOSOMAL[chr6--chr5]""]" chr6:8965457-chr5:147901773 False 0 Read count too low: 1 < 8 FAIL 1 HSPD1P2--AC024937.2 1 0 0.11 0.0 INCL_NON_REF_SPLICE HSPD1P2^ENSG00000254543.1 chr8:7891468:- AC024937.2^ENSG00000231464.1 chr3:195996676:+ LH00995:25:23T55JLT4:6:1284:14235:2794 . NO_LDAS 0.0004 GT 1.8062 AG 1.7465 "[""INTERCHROMOSOMAL[chr8--chr3]""]" chr8:7891468-chr3:195996676 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 HSPA2--SMIM10 1 0 1.0 0.0 INCL_NON_REF_SPLICE HSPA2^ENSG00000126803.9 chr14:64542429:+ SMIM10^ENSG00000184785.6 chrX:134991350:+ LH00995:25:23T55JLT4:6:1498:35277:8609 . YES_LDAS 0.0034 GT 1.371 AG 1.9656 "[""INTERCHROMOSOMAL[chr14--chrX]""]" chr14:64542429-chrX:134991350 False 0 Read count too low: 1 < 8 FAIL 1 HROB--QPRT 1 0 1.0 0.0 ONLY_REF_SPLICE HROB^ENSG00000125319.15 chr17:44142145:+ QPRT^ENSG00000103485.19 chr16:29694664:+ LH00995:25:23T55JLT4:6:2253:43384:13289 . YES_LDAS 0.0034 GT 1.7465 AG 1.5219 "[""INTERCHROMOSOMAL[chr17--chr16]""]" chr17:44142145-chr16:29694664 False 0 Read count too low: 1 < 8 FAIL 1 HMSD--AL139395.1 1 0 0.5 0.0 INCL_NON_REF_SPLICE HMSD^ENSG00000221887.6 chr18:63981838:+ AL139395.1^ENSG00000271589.1 chrX:74769705:+ LH00995:25:23T55JLT4:5:1318:44370:16203 . YES_LDAS 0.0017 GT 1.6895 AG 1.9329 "[""INTERCHROMOSOMAL[chr18--chrX]""]" chr18:63981838-chrX:74769705 False 0 Read count too low: 1 < 8 FAIL 1 HLA-G--ANKRD11P1 1 0 1.0 0.0 INCL_NON_REF_SPLICE HLA-G^ENSG00000204632.12 chr6:29830600:+ ANKRD11P1^ENSG00000234429.1 chr2:81199669:- LH00995:25:23T55JLT4:5:1123:20740:4503 . NO_LDAS 0.0034 GT 1.9656 AG 1.7232 "[""INTERCHROMOSOMAL[chr6--chr2]""]" chr6:29830600-chr2:81199669 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 HGF--RPL18P11 1 0 1.0 0.0 INCL_NON_REF_SPLICE HGF^ENSG00000019991.18 chr7:81769920:- RPL18P11^ENSG00000213307.4 chr15:78661160:- LH00995:25:23T55JLT4:8:1107:39614:8413 . YES_LDAS 0.0034 AT 1.8892 AC 1.9656 "[""INTERCHROMOSOMAL[chr7--chr15]""]" chr7:81769920-chr15:78661160 False 0 Read count too low: 1 < 8 FAIL 1 GYG2--ARSFP1 1 0 1.0 0.0 INCL_NON_REF_SPLICE GYG2^ENSG00000056998.20 chrX:2843354:+ ARSFP1^ENSG00000232226.2 chrY:12258031:- LH00995:25:23T55JLT4:8:1216:47582:10556 . YES_LDAS 0.0034 GT 1.8892 AG 1.8256 "[""INTERCHROMOSOMAL[chrX--chrY]""]" chrX:2843354-chrY:12258031 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 1 GTF2IP20--SEPTIN14 1 0 1.0 0.0 INCL_NON_REF_SPLICE GTF2IP20^ENSG00000272645.3 chr1:223951400:- SEPTIN14^ENSG00000154997.9 chr7:55796092:- LH00995:25:23T55JLT4:6:1135:33473:2709 . NO_LDAS 0.0034 GT 1.6402 AG 1.9899 "[""INTERCHROMOSOMAL[chr1--chr7]""]" chr1:223951400-chr7:55796092 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 1 GTF2IP14--AC073210.1 1 0 0.5 0.0 ONLY_REF_SPLICE GTF2IP14^ENSG00000226002.1 chr7:65091952:+ AC073210.1^ENSG00000227113.2 chr7:65078624:+ LH00995:25:23T55JLT4:6:1126:17318:6227 . NO_LDAS 0.0017 GT 1.7968 AG 1.8323 "[""INTRACHROMOSOMAL[chr7:0.01Mb]"",""LOCAL_REARRANGEMENT:+:[5323]""]" chr7:65091952-chr7:65078624 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 GTF2A1L--STON1 1 0 1.0 0.0 ONLY_REF_SPLICE GTF2A1L^ENSG00000242441.8 chr2:48671680:+ STON1^ENSG00000243244.7 chr2:48580587:+ LH00995:25:23T55JLT4:8:2247:19372:18866 . NO_LDAS 0.0034 GT 1.8256 AG 1.9086 "[""INTRACHROMOSOMAL[chr2:0.02Mb]"",""LOCAL_REARRANGEMENT:+:[19285]""]" chr2:48671680-chr2:48580587 False 0 Read count too low: 1 < 8 FAIL 1 GPR1--LINC02418 1 0 1.0 0.0 INCL_NON_REF_SPLICE GPR1^ENSG00000183671.12 chr2:206176319:- LINC02418^ENSG00000214039.9 chr12:130036222:- LH00995:25:23T55JLT4:8:2240:48618:29613 . NO_LDAS 0.0034 GT 1.7968 AG 1.8062 "[""INTERCHROMOSOMAL[chr2--chr12]""]" chr2:206176319-chr12:130036222 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 GLYATL2--GLYAT 1 0 1.0 0.0 ONLY_REF_SPLICE GLYATL2^ENSG00000156689.7 chr11:58904156:- GLYAT^ENSG00000149124.11 chr11:58724511:- LH00995:25:23T55JLT4:8:1383:27802:9646 . YES_LDAS 0.0034 GT 1.7465 AG 1.9656 "[""DGD_PARALOGS"",""INTRACHROMOSOMAL[chr11:0.10Mb]""]" chr11:58904156-chr11:58724511 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 GLYATL2--GLYAT 1 0 1.0 0.0 ONLY_REF_SPLICE GLYATL2^ENSG00000156689.7 chr11:58904156:- GLYAT^ENSG00000149124.11 chr11:58715423:- LH00995:25:23T55JLT4:6:2389:51829:12868 . NO_LDAS 0.0034 GT 1.7465 AG 1.8892 "[""DGD_PARALOGS"",""INTRACHROMOSOMAL[chr11:0.10Mb]""]" chr11:58904156-chr11:58715423 False 0 Excluded annotation pattern: DGD_PARALOGS FAIL 1 FUT7--P2RX5 1 0 1.0 0.0 INCL_NON_REF_SPLICE FUT7^ENSG00000180549.8 chr9:137030554:- P2RX5^ENSG00000083454.22 chr17:3688089:- LH00995:25:23T55JLT4:5:1132:8119:9407 . YES_LDAS 0.0034 AT 1.7232 AC 1.5058 "[""INTERCHROMOSOMAL[chr9--chr17]""]" chr9:137030554-chr17:3688089 False 0 Read count too low: 1 < 8 FAIL 1 FTH1P3--IMMP1L 1 0 1.0 0.0 INCL_NON_REF_SPLICE FTH1P3^ENSG00000213453.3 chr2:27392910:- IMMP1L^ENSG00000148950.11 chr11:31433528:- LH00995:25:23T55JLT4:5:2290:38117:26811 . YES_LDAS 0.0034 GT 1.8295 AG 1.8256 "[""INTERCHROMOSOMAL[chr2--chr11]""]" chr2:27392910-chr11:31433528 False 0 Read count too low: 1 < 8 FAIL 1 FRK--GRK7 1 0 1.0 0.0 ONLY_REF_SPLICE FRK^ENSG00000111816.8 chr6:116059968:- GRK7^ENSG00000114124.2 chr3:141780374:+ LH00995:25:23T55JLT4:8:2254:33845:29613 . YES_LDAS 0.0034 GT 1.8062 AG 1.9329 "[""INTERCHROMOSOMAL[chr6--chr3]""]" chr6:116059968-chr3:141780374 False 0 Read count too low: 1 < 8 FAIL 1 FBXO36--IFT81 1 0 1.0 0.0 INCL_NON_REF_SPLICE FBXO36^ENSG00000153832.12 chr2:229996923:+ IFT81^ENSG00000122970.16 chr12:110167873:+ LH00995:25:23T55JLT4:6:2174:46361:9730 . NO_LDAS 0.0034 GT 1.9219 AG 1.9329 "[""INTERCHROMOSOMAL[chr2--chr12]""]" chr2:229996923-chr12:110167873 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 FAM181B--CDHR2 1 0 1.0 0.0 INCL_NON_REF_SPLICE FAM181B^ENSG00000182103.5 chr11:82733026:- CDHR2^ENSG00000074276.10 chr5:176577537:+ LH00995:25:23T55JLT4:8:1405:40876:20351 . NO_LDAS 0.0034 GT 1.8892 AG 1.7232 "[""INTERCHROMOSOMAL[chr11--chr5]""]" chr11:82733026-chr5:176577537 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 F8--BX571846.1 1 0 1.0 0.0 ONLY_REF_SPLICE F8^ENSG00000185010.15 chrX:154886134:- BX571846.1^ENSG00000225393.1 chrX:155486583:+ LH00995:25:23T55JLT4:5:2396:49904:14354 . YES_LDAS 0.0034 GT 1.8256 AG 1.7465 "[""INTRACHROMOSOMAL[chrX:0.44Mb]""]" chrX:154886134-chrX:155486583 False 0 Read count too low: 1 < 8 FAIL 1 EME1--DTD2 1 0 1.0 0.0 INCL_NON_REF_SPLICE EME1^ENSG00000154920.15 chr17:50381488:+ DTD2^ENSG00000129480.13 chr14:31448330:- LH00995:25:23T55JLT4:8:2496:19380:23139 . NO_LDAS 0.0034 GT 1.6402 AG 1.6729 "[""INTERCHROMOSOMAL[chr17--chr14]""]" chr17:50381488-chr14:31448330 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 DPH5--LDHAL6EP 1 0 1.0 0.0 INCL_NON_REF_SPLICE DPH5^ENSG00000117543.21 chr1:100992637:- LDHAL6EP^ENSG00000270098.1 chr4:71436985:- LH00995:25:23T55JLT4:5:1290:1558:22537 . NO_LDAS 0.0034 GT 1.4295 AG 1.1589 "[""INTERCHROMOSOMAL[chr1--chr4]""]" chr1:100992637-chr4:71436985 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 DMRTA1--LINC01239 1 0 1.0 0.0 INCL_NON_REF_SPLICE DMRTA1^ENSG00000176399.4 chr9:22447732:+ LINC01239^ENSG00000234840.2 chr9:22646223:+ LH00995:25:23T55JLT4:6:1179:17787:24611 . YES_LDAS 0.0034 GT 1.6402 AG 1.3996 "[""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr9:0.19Mb]""]" chr9:22447732-chr9:22646223 False 0 Read count too low: 1 < 8 FAIL 1 DLG2--TMEM126A 1 0 1.0 0.0 ONLY_REF_SPLICE DLG2^ENSG00000150672.18 chr11:85598657:- TMEM126A^ENSG00000171202.7 chr11:85654063:+ LH00995:25:23T55JLT4:6:1336:41531:10192 . YES_LDAS 0.0034 GT 1.9656 AG 1.7968 "[""INTRACHROMOSOMAL[chr11:0.02Mb]"",""LOCAL_INVERSION:-:+:[20045]""]" chr11:85598657-chr11:85654063 False 0 Read count too low: 1 < 8 FAIL 1 DIP2C-AS1--KCP 1 0 1.0 0.0 INCL_NON_REF_SPLICE DIP2C-AS1^ENSG00000180525.13 chr10:663867:+ KCP^ENSG00000135253.15 chr7:128863062:- LH00995:25:23T55JLT4:8:1381:35213:25928 . YES_LDAS 0.0034 AT 1.3753 AC 1.9656 "[""INTERCHROMOSOMAL[chr10--chr7]""]" chr10:663867-chr7:128863062 False 0 Read count too low: 1 < 8 FAIL 1 CYP2E1--SCART1 1 0 1.0 0.0 ONLY_REF_SPLICE CYP2E1^ENSG00000130649.10 chr10:133527572:+ SCART1^ENSG00000214279.13 chr10:133491222:+ LH00995:25:23T55JLT4:8:2293:38578:27721 . YES_LDAS 0.0034 GT 1.9219 AG 1.8892 "[""INTRACHROMOSOMAL[chr10:0.00Mb]"",""NEIGHBORS_OVERLAP:+:+:[3152]""]" chr10:133527572-chr10:133491222 False 0 Read count too low: 1 < 8 FAIL 1 CYP2D6--PRR15 1 0 1.0 0.0 INCL_NON_REF_SPLICE CYP2D6^ENSG00000100197.23 chr22:42126631:- PRR15^ENSG00000176532.4 chr7:29566681:+ LH00995:25:23T55JLT4:6:2269:21759:17619 . NO_LDAS 0.0034 GT 1.8295 AG 1.8256 "[""INTERCHROMOSOMAL[chr22--chr7]""]" chr22:42126631-chr7:29566681 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 CYB5D1--CFAP251 1 0 1.0 0.0 ONLY_REF_SPLICE CYB5D1^ENSG00000182224.12 chr17:7858824:+ CFAP251^ENSG00000158023.10 chr12:121954120:+ LH00995:25:23T55JLT4:5:2311:35827:23658 . YES_LDAS 0.0034 GT 1.8256 AG 1.8256 "[""INTERCHROMOSOMAL[chr17--chr12]""]" chr17:7858824-chr12:121954120 False 0 Read count too low: 1 < 8 FAIL 1 CXorf56--AL137786.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE CXorf56^ENSG00000018610.15 chrX:119560305:- AL137786.1^ENSG00000258702.3 chr14:96605425:+ LH00995:25:23T55JLT4:5:1318:36895:6367 . NO_LDAS 0.0034 GT 1.8892 AG 1.9329 "[""INTERCHROMOSOMAL[chrX--chr14]""]" chrX:119560305-chr14:96605425 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 CX3CR1--AC009630.3 1 0 0.2 0.0 INCL_NON_REF_SPLICE CX3CR1^ENSG00000168329.14 chr3:39266502:- AC009630.3^ENSG00000264578.1 chr8:41609937:- LH00995:25:23T55JLT4:5:2463:19801:4083 . NO_LDAS 0.0007 GT 1.9329 AG 1.9086 "[""INTERCHROMOSOMAL[chr3--chr8]""]" chr3:39266502-chr8:41609937 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 CRYM-AS1--AC008740.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE CRYM-AS1^ENSG00000189149.12 chr16:21342586:+ AC008740.1^ENSG00000257403.2 chr16:21347155:+ LH00995:25:23T55JLT4:6:2464:18539:19748 . YES_LDAS 0.0034 GT 1.7465 AG 1.9086 "[""INTRACHROMOSOMAL[chr16:0.01Mb]"",""NEIGHBORS[8102]""]" chr16:21342586-chr16:21347155 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 CPS1--HBE1 1 0 1.0 0.0 INCL_NON_REF_SPLICE CPS1^ENSG00000021826.17 chr2:210592956:+ HBE1^ENSG00000213931.7 chr11:5268477:- LH00995:25:23T55JLT4:6:2456:38190:12924 . NO_LDAS 0.0034 GT 1.8892 AG 1.9086 "[""INTERCHROMOSOMAL[chr2--chr11]""]" chr2:210592956-chr11:5268477 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 CNTNAP3C--BX005040.4 1 0 1.0 0.0 INCL_NON_REF_SPLICE CNTNAP3C^ENSG00000283378.1 chr9:61453030:+ BX005040.4^ENSG00000283541.1 chr9:61097036:- LH00995:25:23T55JLT4:6:2192:40892:27329 . NO_LDAS 0.0034 GT 1.8295 AG 1.8323 "[""INTRACHROMOSOMAL[chr9:0.22Mb]""]" chr9:61453030-chr9:61097036 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 CFAP20DC--GABRQ 1 0 0.33 0.0 INCL_NON_REF_SPLICE CFAP20DC^ENSG00000163689.20 chr3:59047177:- GABRQ^ENSG00000268089.3 chrX:152653125:+ LH00995:25:23T55JLT4:6:2368:31742:29193 . NO_LDAS 0.0011 GT 1.8892 AG 1.6049 "[""INTERCHROMOSOMAL[chr3--chrX]""]" chr3:59047177-chrX:152653125 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 CEACAM4--PSG5 1 0 1.0 0.0 INCL_NON_REF_SPLICE CEACAM4^ENSG00000105352.10 chr19:41627061:- PSG5^ENSG00000204941.14 chr19:43186609:- LH00995:25:23T55JLT4:5:2113:31143:13527 . NO_LDAS 0.0034 GT 1.4295 AG 1.3996 "[""DGD_PARALOGS"",""HGNC_GENEFAM"",""INTRACHROMOSOMAL[chr19:1.54Mb]""]" chr19:41627061-chr19:43186609 False 0 Excluded annotation pattern: DGD_PARALOGS FAIL 1 CD58--INKA2-AS1 1 0 1.0 0.0 ONLY_REF_SPLICE CD58^ENSG00000116815.16 chr1:116570903:- INKA2-AS1^ENSG00000227811.3 chr1:111746060:+ LH00995:25:23T55JLT4:5:2274:38489:20421 . YES_LDAS 0.0034 GT 1.8062 AG 1.9656 "[""INTRACHROMOSOMAL[chr1:4.77Mb]""]" chr1:116570903-chr1:111746060 False 0 Read count too low: 1 < 8 FAIL 1 CCL11--RAD51AP2 1 0 0.5 0.0 INCL_NON_REF_SPLICE CCL11^ENSG00000172156.4 chr17:34288083:+ RAD51AP2^ENSG00000214842.5 chr2:17515906:- LH00995:25:23T55JLT4:5:2304:31119:10234 . NO_LDAS 0.0017 GT 1.7968 AG 1.9219 "[""INTERCHROMOSOMAL[chr17--chr2]""]" chr17:34288083-chr2:17515906 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 CCL11--KRT18P61 1 0 0.5 0.0 INCL_NON_REF_SPLICE CCL11^ENSG00000172156.4 chr17:34288083:+ KRT18P61^ENSG00000267083.1 chr17:60810827:+ LH00995:25:23T55JLT4:5:2304:31119:10234 . NO_LDAS 0.0017 GT 1.7968 AG 1.8295 "[""INTRACHROMOSOMAL[chr17:26.52Mb]""]" chr17:34288083-chr17:60810827 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 CCDC74A--NOMO3 1 0 0.5 0.0 INCL_NON_REF_SPLICE CCDC74A^ENSG00000163040.15 chr2:131532781:+ NOMO3^ENSG00000103226.19 chr16:16275187:+ LH00995:25:23T55JLT4:6:1307:47938:5736 . YES_LDAS 0.0017 GT 1.8256 AG 1.9899 "[""INTERCHROMOSOMAL[chr2--chr16]""]" chr2:131532781-chr16:16275187 False 0 Read count too low: 1 < 8 FAIL 1 CCDC62--AL035458.1 1 0 0.33 0.0 INCL_NON_REF_SPLICE CCDC62^ENSG00000130783.14 chr12:122813419:+ AL035458.1^ENSG00000236456.1 chr20:34246332:- LH00995:25:23T55JLT4:8:2410:34889:14410 . NO_LDAS 0.0011 GT 1.9329 AG 1.3996 "[""INTERCHROMOSOMAL[chr12--chr20]""]" chr12:122813419-chr20:34246332 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 CAPS2--SLAMF6 1 0 1.0 0.0 ONLY_REF_SPLICE CAPS2^ENSG00000180881.19 chr12:75390322:- SLAMF6^ENSG00000162739.14 chr1:160496393:- LH00995:25:23T55JLT4:6:1124:40309:23798 . NO_LDAS 0.0034 GT 1.9656 AG 1.9329 "[""INTERCHROMOSOMAL[chr12--chr1]""]" chr12:75390322-chr1:160496393 False 0 Read count too low: 1 < 8 FAIL 1 CAPN10-DT--IQCB1 1 0 1.0 0.0 INCL_NON_REF_SPLICE CAPN10-DT^ENSG00000260942.1 chr2:240585141:- IQCB1^ENSG00000173226.17 chr3:121770488:- LH00995:25:23T55JLT4:6:1489:44605:11733 . YES_LDAS 0.0034 GT 1.9656 AG 1.6402 "[""INTERCHROMOSOMAL[chr2--chr3]""]" chr2:240585141-chr3:121770488 False 0 Read count too low: 1 < 8 FAIL 1 CALR4P--CARF 1 0 0.5 0.0 ONLY_REF_SPLICE CALR4P^ENSG00000227742.2 chr1:51582824:- CARF^ENSG00000138380.18 chr2:202952559:+ LH00995:25:23T55JLT4:8:1473:4204:3438 . NO_LDAS 0.0017 GT 1.9329 AG 1.9899 "[""INTERCHROMOSOMAL[chr1--chr2]""]" chr1:51582824-chr2:202952559 False 0 Read count too low: 1 < 8 FAIL 1 C3orf33--RPS15AP9 1 0 1.0 0.0 INCL_NON_REF_SPLICE C3orf33^ENSG00000174928.16 chr3:155806139:- RPS15AP9^ENSG00000228453.1 chr1:117138256:+ LH00995:25:23T55JLT4:6:1242:25238:21766 . NO_LDAS 0.0034 GT 1.7819 AG 1.7968 "[""INTERCHROMOSOMAL[chr3--chr1]""]" chr3:155806139-chr1:117138256 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 C1D--SPAG16 1 0 1.0 0.0 ONLY_REF_SPLICE C1D^ENSG00000197223.12 chr2:68046344:- SPAG16^ENSG00000144451.19 chr2:213297262:+ LH00995:25:23T55JLT4:6:2335:49928:23280 . YES_LDAS 0.0034 GT 1.7465 AG 1.8295 "[""INTRACHROMOSOMAL[chr2:145.17Mb]""]" chr2:68046344-chr2:213297262 False 0 Read count too low: 1 < 8 FAIL 1 C11orf21--AP002784.1 1 0 1.0 0.0 ONLY_REF_SPLICE C11orf21^ENSG00000110665.12 chr11:2301756:- AP002784.1^ENSG00000250519.7 chr11:94276957:+ LH00995:25:23T55JLT4:8:1159:9244:26825 . YES_LDAS 0.0034 GT 1.371 AG 1.6729 "[""INTRACHROMOSOMAL[chr11:91.88Mb]""]" chr11:2301756-chr11:94276957 False 0 Read count too low: 1 < 8 FAIL 1 BX119927.1--LMTK3 1 0 0.25 0.0 INCL_NON_REF_SPLICE BX119927.1^ENSG00000283178.1 chrX:71869762:- LMTK3^ENSG00000142235.12 chr19:48497589:- LH00995:25:23T55JLT4:6:1282:41668:19006 . NO_LDAS 0.0008 GT 1.9899 AG 1.7056 "[""INTERCHROMOSOMAL[chrX--chr19]""]" chrX:71869762-chr19:48497589 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 BRICD5--AC096915.1 1 0 0.5 0.0 INCL_NON_REF_SPLICE BRICD5^ENSG00000182685.7 chr16:2209249:- AC096915.1^ENSG00000226082.2 chr3:62926422:+ LH00995:25:23T55JLT4:8:2427:49411:15405 . YES_LDAS 0.0017 GT 1.8892 AG 1.6729 "[""INTERCHROMOSOMAL[chr16--chr3]""]" chr16:2209249-chr3:62926422 False 0 Read count too low: 1 < 8 FAIL 1 BFSP1--INO80C 1 0 1.0 0.0 ONLY_REF_SPLICE BFSP1^ENSG00000125864.14 chr20:17524848:- INO80C^ENSG00000153391.16 chr18:35478349:- LH00995:25:23T55JLT4:5:1294:31135:4741 . NO_LDAS 0.0034 GT 1.8892 AG 1.8892 "[""INTERCHROMOSOMAL[chr20--chr18]""]" chr20:17524848-chr18:35478349 False 0 Read count too low: 1 < 8 FAIL 1 B3GNT2--AL031666.2 1 0 1.0 0.0 INCL_NON_REF_SPLICE B3GNT2^ENSG00000170340.11 chr2:62222426:+ AL031666.2^ENSG00000267882.2 chr20:47318549:+ LH00995:25:23T55JLT4:6:2111:26799:13877 . YES_LDAS 0.0034 GT 1.8256 AG 1.9329 "[""INTERCHROMOSOMAL[chr2--chr20]""]" chr2:62222426-chr20:47318549 False 0 Read count too low: 1 < 8 FAIL 1 ATOH8--HLA-DOB 1 0 1.0 0.0 INCL_NON_REF_SPLICE ATOH8^ENSG00000168874.13 chr2:85764165:+ HLA-DOB^ENSG00000241106.8 chr6:32820529:- LH00995:25:23T55JLT4:6:2412:23320:10178 . YES_LDAS 0.0034 GT 1.7465 AG 1.231 "[""INTERCHROMOSOMAL[chr2--chr6]""]" chr2:85764165-chr6:32820529 False 0 Read count too low: 1 < 8 FAIL 1 ASGR1--PPP1R14BP4 1 0 1.0 0.0 INCL_NON_REF_SPLICE ASGR1^ENSG00000141505.12 chr17:7178040:- PPP1R14BP4^ENSG00000270889.1 chr7:35971447:- LH00995:25:23T55JLT4:5:1321:43748:28997 . NO_LDAS 0.0034 GT 1.2366 AG 1.7819 "[""INTERCHROMOSOMAL[chr17--chr7]""]" chr17:7178040-chr7:35971447 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 ASB7--AC087762.1 1 0 1.0 0.0 ONLY_REF_SPLICE ASB7^ENSG00000183475.13 chr15:100630042:+ AC087762.1^ENSG00000259579.1 chr15:100819414:+ LH00995:25:23T55JLT4:8:1262:31224:24288 . YES_LDAS 0.0034 GT 1.7232 AG 1.8323 "[""INTRACHROMOSOMAL[chr15:0.06Mb]"",""NEIGHBORS[64548]""]" chr15:100630042-chr15:100819414 False 0 Read count too low: 1 < 8 FAIL 1 ARMC4--COMMD8 1 0 1.0 0.0 ONLY_REF_SPLICE ARMC4^ENSG00000169126.16 chr10:27853242:- COMMD8^ENSG00000169019.11 chr4:47453214:- LH00995:25:23T55JLT4:5:2353:31119:9169 . YES_LDAS 0.0034 GC 1.9329 AG 1.8323 "[""INTERCHROMOSOMAL[chr10--chr4]""]" chr10:27853242-chr4:47453214 False 0 Read count too low: 1 < 8 FAIL 1 AP006623.1--AC120114.2 1 0 1.0 0.0 INCL_NON_REF_SPLICE AP006623.1^ENSG00000250397.2 chr11:857426:- AC120114.2^ENSG00000278713.1 chr16:29862999:+ LH00995:25:23T55JLT4:6:1188:19502:9898 . YES_LDAS 0.0034 GT 1.9329 AG 1.9329 "[""INTERCHROMOSOMAL[chr11--chr16]""]" chr11:857426-chr16:29862999 False 0 Read count too low: 1 < 8 FAIL 1 AP001107.2--LEO1 1 0 1.0 0.0 INCL_NON_REF_SPLICE AP001107.2^ENSG00000254452.1 chr11:66276799:- LEO1^ENSG00000166477.13 chr15:51949874:- LH00995:25:23T55JLT4:5:2261:11452:21934 . NO_LDAS 0.0034 GT 1.7968 AG 1.231 "[""INTERCHROMOSOMAL[chr11--chr15]""]" chr11:66276799-chr15:51949874 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AP000879.1--SUSD1 1 0 1.0 0.0 INCL_NON_REF_SPLICE AP000879.1^ENSG00000254721.1 chr11:70206190:- SUSD1^ENSG00000106868.17 chr9:112142358:- LH00995:25:23T55JLT4:5:1250:15012:17366 . NO_LDAS 0.0034 GC 1.9329 AG 1.7968 "[""INTERCHROMOSOMAL[chr11--chr9]""]" chr11:70206190-chr9:112142358 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AP000851.1--CCDC28A 1 0 1.0 0.0 INCL_NON_REF_SPLICE AP000851.1^ENSG00000256916.1 chr11:102607824:+ CCDC28A^ENSG00000024862.18 chr6:138776147:+ LH00995:25:23T55JLT4:6:2407:31216:18445 . YES_LDAS 0.0034 GT 1.7465 AG 1.9219 "[""INTERCHROMOSOMAL[chr11--chr6]""]" chr11:102607824-chr6:138776147 False 0 Read count too low: 1 < 8 FAIL 1 AP000695.1--CRYZL1 1 0 1.0 0.0 ONLY_REF_SPLICE AP000695.1^ENSG00000230479.1 chr21:36430412:+ CRYZL1^ENSG00000205758.12 chr21:33616750:- LH00995:25:23T55JLT4:6:1265:26443:6647 . YES_LDAS 0.0034 GT 1.8295 AG 1.8256 "[""INTRACHROMOSOMAL[chr21:2.79Mb]""]" chr21:36430412-chr21:33616750 False 0 Read count too low: 1 < 8 FAIL 1 ANKRD18B--CTSV 1 0 1.0 0.0 INCL_NON_REF_SPLICE ANKRD18B^ENSG00000230453.9 chr9:33572369:+ CTSV^ENSG00000136943.12 chr9:97153738:- LH00995:25:23T55JLT4:5:2273:30399:12266 . YES_LDAS 0.0034 GT 1.9329 AG 1.8256 "[""INTRACHROMOSOMAL[chr9:63.46Mb]""]" chr9:33572369-chr9:97153738 False 0 Read count too low: 1 < 8 FAIL 1 AL589935.1--GPALPP1 1 0 1.0 0.0 INCL_NON_REF_SPLICE AL589935.1^ENSG00000232295.7 chr6:71302954:- GPALPP1^ENSG00000133114.18 chr13:45027838:+ LH00995:25:23T55JLT4:8:1324:47429:10542 . NO_LDAS 0.0034 GC 1.6895 AG 1.9086 "[""INTERCHROMOSOMAL[chr6--chr13]""]" chr6:71302954-chr13:45027838 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AL589765.5--SLAMF1 1 0 1.0 0.0 INCL_NON_REF_SPLICE AL589765.5^ENSG00000268288.1 chr1:151766710:- SLAMF1^ENSG00000117090.15 chr1:160637218:- LH00995:25:23T55JLT4:6:1225:8904:10402 . NO_LDAS 0.0034 GT 1.8295 AG 1.8256 "[""INTRACHROMOSOMAL[chr1:8.84Mb]""]" chr1:151766710-chr1:160637218 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AL513323.1--OR10J3 1 0 1.0 0.0 INCL_NON_REF_SPLICE AL513323.1^ENSG00000228560.1 chr1:159468842:- OR10J3^ENSG00000196266.5 chr1:159314684:- LH00995:25:23T55JLT4:5:1374:26354:14844 . NO_LDAS 0.0034 GT 1.9329 AG 1.8256 "[""INTRACHROMOSOMAL[chr1:0.03Mb]"",""NEIGHBORS[31507]""]" chr1:159468842-chr1:159314684 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AL391560.2--AP001271.2 1 0 0.5 0.0 INCL_NON_REF_SPLICE AL391560.2^ENSG00000287887.1 chr13:24752283:+ AP001271.2^ENSG00000279459.1 chr11:70604435:+ LH00995:25:23T55JLT4:6:1264:40576:21010 . NO_LDAS 0.0017 GT 1.9329 AG 1.7465 "[""INTERCHROMOSOMAL[chr13--chr11]""]" chr13:24752283-chr11:70604435 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AL359771.1--NPM1P40 1 0 1.0 0.0 INCL_NON_REF_SPLICE AL359771.1^ENSG00000237445.2 chr1:13657302:- NPM1P40^ENSG00000236523.2 chr1:203256068:+ LH00995:25:23T55JLT4:8:1383:42138:13793 . NO_LDAS 0.0034 GT 1.9656 AG 1.7056 "[""INTRACHROMOSOMAL[chr1:189.60Mb]""]" chr1:13657302-chr1:203256068 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AL359258.2--AC104134.1 1 0 0.5 0.0 INCL_NON_REF_SPLICE AL359258.2^ENSG00000260879.1 chr1:108200042:+ AC104134.1^ENSG00000225420.1 chr2:88574861:+ LH00995:25:23T55JLT4:8:1368:23725:27273 . YES_LDAS 0.0017 GT 1.7465 AG 1.1589 "[""INTERCHROMOSOMAL[chr1--chr2]""]" chr1:108200042-chr2:88574861 False 0 Read count too low: 1 < 8 FAIL 1 AL162231.5--AL589645.1 1 0 1.0 0.0 ONLY_REF_SPLICE AL162231.5^ENSG00000288583.1 chr9:34703038:+ AL589645.1^ENSG00000287368.1 chr9:34889579:+ LH00995:25:23T55JLT4:2:1116:39266:13611 . YES_LDAS 0.0034 GT 1.8892 AG 1.9899 "[""INTRACHROMOSOMAL[chr9:0.04Mb]"",""NEIGHBORS[35554]""]" chr9:34703038-chr9:34889579 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 AL139353.1--ZNF675 1 0 1.0 0.0 INCL_NON_REF_SPLICE AL139353.1^ENSG00000203546.7 chr14:31453275:- ZNF675^ENSG00000197372.10 chr19:23534298:- LH00995:25:23T55JLT4:6:1296:6210:19748 . YES_LDAS 0.0034 GT 1.9329 AG 1.9656 "[""INTERCHROMOSOMAL[chr14--chr19]""]" chr14:31453275-chr19:23534298 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 1 AL139220.2--KLF17 1 0 1.0 0.0 ONLY_REF_SPLICE AL139220.2^ENSG00000230615.7 chr1:44051531:+ KLF17^ENSG00000171872.5 chr1:44129353:+ LH00995:25:23T55JLT4:8:1439:31888:20925 . YES_LDAS 0.0034 GT 1.7056 AG 1.8295 "[""INTRACHROMOSOMAL[chr1:0.00Mb]"",""NEIGHBORS[2908]""]" chr1:44051531-chr1:44129353 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 AL139220.2--KLF17 1 0 1.0 0.0 ONLY_REF_SPLICE AL139220.2^ENSG00000230615.7 chr1:44051494:+ KLF17^ENSG00000171872.5 chr1:44129353:+ LH00995:25:23T55JLT4:6:1124:26629:18207 . NO_LDAS 0.0034 GT 1.8892 AG 1.8295 "[""INTRACHROMOSOMAL[chr1:0.00Mb]"",""NEIGHBORS[2908]""]" chr1:44051494-chr1:44129353 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 AL139042.1--CNR1 1 0 1.0 0.0 ONLY_REF_SPLICE AL139042.1^ENSG00000234426.3 chr6:88420944:- CNR1^ENSG00000118432.12 chr6:88145337:- LH00995:25:23T55JLT4:6:1248:22050:27988 . YES_LDAS 0.0034 GT 1.8256 AG 1.8256 "[""TCGA_StarF2019"",""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr6:0.01Mb]"",""NEIGHBORS[11445]""]" chr6:88420944-chr6:88145337 False 0 Read count too low: 1 < 8 FAIL 1 AL139042.1--CNR1 1 0 1.0 0.0 INCL_NON_REF_SPLICE AL139042.1^ENSG00000234426.3 chr6:88304040:- CNR1^ENSG00000118432.12 chr6:88145337:- LH00995:25:23T55JLT4:6:1396:20012:16722 . YES_LDAS 0.0034 GT 1.8323 AG 1.8256 "[""TCGA_StarF2019"",""CCLE_StarF2019"",""INTRACHROMOSOMAL[chr6:0.01Mb]"",""NEIGHBORS[11445]""]" chr6:88304040-chr6:88145337 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 AL137139.2--RIC3 1 0 1.0 0.0 INCL_NON_REF_SPLICE AL137139.2^ENSG00000286757.2 chr13:99842570:- RIC3^ENSG00000166405.15 chr11:8140193:- LH00995:25:23T55JLT4:5:2140:39589:24709 . NO_LDAS 0.0034 GT 1.7465 AG 1.9086 "[""INTERCHROMOSOMAL[chr13--chr11]""]" chr13:99842570-chr11:8140193 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AL135910.1--AL009176.1 1 0 1.0 0.0 ONLY_REF_SPLICE AL135910.1^ENSG00000272848.2 chr6:169430641:- AL009176.1^ENSG00000285887.1 chr6:169421174:- LH00995:25:23T55JLT4:5:2319:26953:5932 . YES_LDAS 0.0034 GT 1.9086 AG 1.7819 "[""INTRACHROMOSOMAL[chr6:0.00Mb]"",""NEIGHBORS[1264]""]" chr6:169430641-chr6:169421174 False 0 Read count too low: 1 < 8 FAIL 1 AL035587.1--GNMT 1 0 1.0 0.0 ONLY_REF_SPLICE AL035587.1^ENSG00000231113.2 chr6:42943970:+ GNMT^ENSG00000124713.6 chr6:42962212:+ LH00995:25:23T55JLT4:5:2481:41329:4797 . YES_LDAS 0.0034 GT 1.8892 AG 1.9656 "[""INTRACHROMOSOMAL[chr6:0.01Mb]"",""NEIGHBORS[12394]""]" chr6:42943970-chr6:42962212 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 AKR1C1--AKR1E2 1 0 0.33 0.0 ONLY_REF_SPLICE AKR1C1^ENSG00000187134.14 chr10:4972749:+ AKR1E2^ENSG00000165568.18 chr10:4830675:+ LH00995:25:23T55JLT4:5:1464:11250:9057 . YES_LDAS 0.0011 GT 1.7819 AG 1.9899 "[""DGD_PARALOGS"",""HGNC_GENEFAM"",""INTRACHROMOSOMAL[chr10:0.12Mb]""]" chr10:4972749-chr10:4830675 False 0 Excluded annotation pattern: DGD_PARALOGS FAIL 1 AF279873.3--TOX 1 0 1.0 0.0 ONLY_REF_SPLICE AF279873.3^ENSG00000253642.6 chr8:33796436:+ TOX^ENSG00000198846.6 chr8:58960008:- LH00995:25:23T55JLT4:5:1114:22544:8889 . YES_LDAS 0.0034 GT 1.9899 AG 1.9329 "[""INTRACHROMOSOMAL[chr8:24.77Mb]""]" chr8:33796436-chr8:58960008 False 0 Read count too low: 1 < 8 FAIL 1 ADAMTS8--RAB29 1 0 1.0 0.0 INCL_NON_REF_SPLICE ADAMTS8^ENSG00000134917.10 chr11:130411455:- RAB29^ENSG00000117280.13 chr1:205768467:- LH00995:25:23T55JLT4:6:1385:6881:12532 . YES_LDAS 0.0034 GT 1.7465 AG 1.3996 "[""INTERCHROMOSOMAL[chr11--chr1]""]" chr11:130411455-chr1:205768467 False 0 Read count too low: 1 < 8 FAIL 1 ACTR3C--AC092681.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE ACTR3C^ENSG00000106526.10 chr7:150293312:- AC092681.1^ENSG00000224016.2 chr7:149909705:- LH00995:25:23T55JLT4:8:1283:7860:21094 . YES_LDAS 0.0034 GT 1.9656 AG 1.9899 "[""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr7:0.33Mb]""]" chr7:150293312-chr7:149909705 False 0 Read count too low: 1 < 8 FAIL 1 ACP6--NDP-AS1 1 0 1.0 0.0 INCL_NON_REF_SPLICE ACP6^ENSG00000162836.12 chr1:147648246:- NDP-AS1^ENSG00000236276.2 chrX:43969926:+ LH00995:25:23T55JLT4:5:1287:38999:10682 . NO_LDAS 0.0034 GT 1.9656 AG 1.8892 "[""INTERCHROMOSOMAL[chr1--chrX]""]" chr1:147648246-chrX:43969926 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC245100.7--AC239800.1 1 0 0.25 0.0 INCL_NON_REF_SPLICE AC245100.7^ENSG00000285062.1 chr1:148459602:- AC239800.1^ENSG00000223779.6 chr1:143745217:+ LH00995:25:23T55JLT4:6:1321:2019:17450 . NO_LDAS 0.0008 GT 1.9329 AG 1.8295 "[""INTRACHROMOSOMAL[chr1:4.70Mb]""]" chr1:148459602-chr1:143745217 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC244034.1--RPL7AP51 1 0 0.25 0.0 INCL_NON_REF_SPLICE AC244034.1^ENSG00000234981.1 chr1:206529243:+ RPL7AP51^ENSG00000226448.1 chr10:67334430:+ LH00995:25:23T55JLT4:6:1342:47129:13639 . NO_LDAS 0.0008 GC 1.2729 AG 1.3383 "[""INTERCHROMOSOMAL[chr1--chr10]""]" chr1:206529243-chr10:67334430 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC242842.2--TRIM36 1 0 0.17 0.0 ONLY_REF_SPLICE AC242842.2^ENSG00000284964.1 chr1:149607554:+ TRIM36^ENSG00000152503.10 chr5:115171222:- LH00995:25:23T55JLT4:8:1491:23070:4279 . YES_LDAS 0.0006 GT 1.9329 AG 1.8892 "[""INTERCHROMOSOMAL[chr1--chr5]""]" chr1:149607554-chr5:115171222 False 0 Read count too low: 1 < 8 FAIL 1 AC116667.2--CERS4 1 0 1.0 0.0 ONLY_REF_SPLICE AC116667.2^ENSG00000284675.1 chr16:73134612:+ CERS4^ENSG00000090661.12 chr19:8254499:+ LH00995:25:23T55JLT4:6:2284:20238:9519 . YES_LDAS 0.0034 GT 1.8892 AG 1.9086 "[""INTERCHROMOSOMAL[chr16--chr19]""]" chr16:73134612-chr19:8254499 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 1 AC116036.1--KCTD6 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC116036.1^ENSG00000236722.1 chr3:58511668:+ KCTD6^ENSG00000168301.13 chr3:58498713:+ LH00995:25:23T55JLT4:5:1176:52113:21794 . NO_LDAS 0.0034 GT 1.7232 AG 1.9086 "[""INTRACHROMOSOMAL[chr3:0.01Mb]"",""LOCAL_REARRANGEMENT:+:[8950]""]" chr3:58511668-chr3:58498713 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC110794.1--COL22A1 1 0 0.5 0.0 INCL_NON_REF_SPLICE AC110794.1^ENSG00000248249.1 chr4:175962300:+ COL22A1^ENSG00000169436.17 chr8:138676594:- LH00995:25:23T55JLT4:6:2434:14057:5960 . YES_LDAS 0.0017 GT 1.5546 AG 1.8323 "[""INTERCHROMOSOMAL[chr4--chr8]""]" chr4:175962300-chr8:138676594 False 0 Read count too low: 1 < 8 FAIL 1 AC108161.1--GMNN 1 0 0.2 0.0 INCL_NON_REF_SPLICE AC108161.1^ENSG00000226439.3 chr4:61775614:- GMNN^ENSG00000112312.10 chr6:24781477:+ LH00995:25:23T55JLT4:8:2142:17932:10935 . YES_LDAS 0.0007 GT 1.7465 AG 1.8256 "[""INTERCHROMOSOMAL[chr4--chr6]""]" chr4:61775614-chr6:24781477 False 0 Read count too low: 1 < 8 FAIL 1 AC106791.1--KLHL3 1 0 1.0 0.0 ONLY_REF_SPLICE AC106791.1^ENSG00000250159.7 chr5:137858428:- KLHL3^ENSG00000146021.15 chr5:137709856:- LH00995:25:23T55JLT4:5:1202:6461:19398 . YES_LDAS 0.0034 GT 1.7232 AG 1.9329 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr5:0.07Mb]"",""NEIGHBORS[73691]""]" chr5:137858428-chr5:137709856 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 AC106782.3--AC026468.1 1 0 0.1 0.0 ONLY_REF_SPLICE AC106782.3^ENSG00000261444.1 chr16:30214438:+ AC026468.1^ENSG00000277003.1 chr16:69975238:+ LH00995:25:23T55JLT4:6:2309:44370:24330 . NO_LDAS 0.0003 GT 1.9899 AG 1.9086 "[""INTRACHROMOSOMAL[chr16:39.76Mb]""]" chr16:30214438-chr16:69975238 False 0 Read count too low: 1 < 8 FAIL 1 AC100797.4--GPRIN1 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC100797.4^ENSG00000282375.1 chr8:739014:+ GPRIN1^ENSG00000169258.7 chr5:176597677:- LH00995:25:23T55JLT4:5:2289:16444:9085 . NO_LDAS 0.0034 GT 0.9183 AG 1.1589 "[""INTERCHROMOSOMAL[chr8--chr5]""]" chr8:739014-chr5:176597677 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 1 AC093909.1--ACTBP8 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC093909.1^ENSG00000180015.12 chr4:188738766:+ ACTBP8^ENSG00000220267.1 chr6:88275923:- LH00995:25:23T55JLT4:6:1303:49936:26096 . NO_LDAS 0.0034 GT 1.8295 AG 1.6895 "[""INTERCHROMOSOMAL[chr4--chr6]""]" chr4:188738766-chr6:88275923 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC092969.1--EPHB1 1 0 1.0 0.0 ONLY_REF_SPLICE AC092969.1^ENSG00000240086.7 chr3:135379262:- EPHB1^ENSG00000154928.18 chr3:135106448:+ LH00995:25:23T55JLT4:6:2184:5223:13947 . NO_LDAS 0.0034 GT 1.8892 AG 1.9086 "[""INTRACHROMOSOMAL[chr3:0.12Mb]""]" chr3:135379262-chr3:135106448 False 0 Read count too low: 1 < 8 FAIL 1 AC092747.2--MED21 1 0 1.0 0.0 ONLY_REF_SPLICE AC092747.2^ENSG00000256625.1 chr12:27123381:+ MED21^ENSG00000152944.9 chr12:27030158:+ LH00995:25:23T55JLT4:8:2379:6833:25788 . YES_LDAS 0.0034 GT 1.8323 AG 1.9656 "[""INTRACHROMOSOMAL[chr12:0.06Mb]"",""LOCAL_REARRANGEMENT:+:[55567]""]" chr12:27123381-chr12:27030158 False 0 Read count too low: 1 < 8 FAIL 1 AC092691.1--LSAMP 1 0 1.0 0.0 ONLY_REF_SPLICE AC092691.1^ENSG00000239268.3 chr3:117997182:- LSAMP^ENSG00000185565.12 chr3:116086556:- LH00995:25:23T55JLT4:6:2347:20618:11972 . YES_LDAS 0.0034 GT 1.8892 AG 1.8062 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr3:0.53Mb]""]" chr3:117997182-chr3:116086556 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 AC092666.2--AC092681.1 1 0 0.5 0.0 ONLY_REF_SPLICE AC092666.2^ENSG00000276538.1 chr7:150047609:- AC092681.1^ENSG00000224016.2 chr7:149891301:- LH00995:25:23T55JLT4:8:2316:18944:24905 . YES_LDAS 0.0017 GT 1.6895 AG 1.9899 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr7:0.14Mb]""]" chr7:150047609-chr7:149891301 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 1 AC092473.2--LRRC20 1 0 1.0 0.0 ONLY_REF_SPLICE AC092473.2^ENSG00000287098.1 chrX:40620701:- LRRC20^ENSG00000172731.14 chr10:70340702:- LH00995:25:23T55JLT4:5:1349:48699:4167 . YES_LDAS 0.0034 GT 1.8892 AG 1.9086 "[""INTERCHROMOSOMAL[chrX--chr10]""]" chrX:40620701-chr10:70340702 False 0 Read count too low: 1 < 8 FAIL 1 AC091564.2--AC097381.1 1 0 0.25 0.0 INCL_NON_REF_SPLICE AC091564.2^ENSG00000254400.1 chr11:6604281:- AC097381.1^ENSG00000228919.5 chr4:7939661:+ LH00995:25:23T55JLT4:6:2277:36790:15096 . NO_LDAS 0.0008 GT 1.8892 AG 1.6402 "[""INTERCHROMOSOMAL[chr11--chr4]""]" chr11:6604281-chr4:7939661 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC091564.2--AC092069.1 1 0 0.5 0.0 INCL_NON_REF_SPLICE AC091564.2^ENSG00000254400.1 chr11:6604281:- AC092069.1^ENSG00000267458.1 chr19:12944159:- LH00995:25:23T55JLT4:5:2480:27228:10921 . YES_LDAS 0.0017 GT 1.8892 AG 1.8323 "[""INTERCHROMOSOMAL[chr11--chr19]""]" chr11:6604281-chr19:12944159 False 0 Read count too low: 1 < 8 FAIL 1 AC091180.3--RANBP20P 1 0 0.5 0.0 INCL_NON_REF_SPLICE AC091180.3^ENSG00000250186.3 chr17:49405063:+ RANBP20P^ENSG00000259144.2 chr14:20722114:- LH00995:25:23T55JLT4:6:1146:38408:22355 . YES_LDAS 0.0017 GT 1.7968 AG 1.7056 "[""INTERCHROMOSOMAL[chr17--chr14]""]" chr17:49405063-chr14:20722114 False 0 Read count too low: 1 < 8 FAIL 1 AC091042.1--AC018695.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC091042.1^ENSG00000265936.1 chr18:67375292:+ AC018695.1^ENSG00000214259.3 chr16:85815884:- LH00995:25:23T55JLT4:8:2469:50074:24288 . YES_LDAS 0.0034 GT 1.7819 AG 1.9899 "[""INTERCHROMOSOMAL[chr18--chr16]""]" chr18:67375292-chr16:85815884 True aih_curated_blacklist score(3) 0 aih_curated_blacklist score(3) FAIL 1 AC087620.1--AC116913.1 1 0 0.5 0.0 INCL_NON_REF_SPLICE AC087620.1^ENSG00000253754.1 chr8:108227484:+ AC116913.1^ENSG00000261351.2 chr15:66490680:- LH00995:25:23T55JLT4:6:2298:51061:17815 . YES_LDAS 0.0017 GT 1.6895 AG 1.5656 "[""INTERCHROMOSOMAL[chr8--chr15]""]" chr8:108227484-chr15:66490680 False 0 Read count too low: 1 < 8 FAIL 1 AC087280.2--OR2AG2 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC087280.2^ENSG00000283415.2 chr11:6924498:- OR2AG2^ENSG00000188124.3 chr11:6768976:- LH00995:25:23T55JLT4:5:1195:51207:19973 . YES_LDAS 0.0034 GT 1.6895 AG 1.3753 "[""GTEx_recurrent_StarF2019"",""INTRACHROMOSOMAL[chr11:0.05Mb]"",""NEIGHBORS[49966]""]" chr11:6924498-chr11:6768976 False 0 Excluded annotation pattern: GTEx_recurrent_StarF2019 FAIL 1 AC087280.2--EOGT 1 0 1.0 0.0 ONLY_REF_SPLICE AC087280.2^ENSG00000283415.2 chr11:6850754:- EOGT^ENSG00000163378.14 chr3:68989017:- LH00995:25:23T55JLT4:8:1338:18256:17801 . YES_LDAS 0.0034 GT 1.9899 AG 1.8892 "[""INTERCHROMOSOMAL[chr11--chr3]""]" chr11:6850754-chr3:68989017 False 0 Read count too low: 1 < 8 FAIL 1 AC068700.2--IL7 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC068700.2^ENSG00000286675.1 chr8:78630314:- IL7^ENSG00000104432.14 chr8:78740082:- LH00995:25:23T55JLT4:5:2155:38384:17380 . YES_LDAS 0.0034 GT 1.6049 AG 1.6402 "[""INTRACHROMOSOMAL[chr8:0.01Mb]"",""LOCAL_REARRANGEMENT:-:[9761]""]" chr8:78630314-chr8:78740082 False 0 Read count too low: 1 < 8 FAIL 1 AC027097.1--MS4A14 1 0 1.0 0.0 ONLY_REF_SPLICE AC027097.1^ENSG00000267040.6 chr18:57642052:+ MS4A14^ENSG00000166928.11 chr11:60415437:+ LH00995:25:23T55JLT4:8:2324:22212:10220 . NO_LDAS 0.0034 GT 1.7232 AG 1.2419 "[""INTERCHROMOSOMAL[chr18--chr11]""]" chr18:57642052-chr11:60415437 False 0 Read count too low: 1 < 8 FAIL 1 AC025259.1--SNRK-AS1 1 0 0.5 0.0 INCL_NON_REF_SPLICE AC025259.1^ENSG00000257663.1 chr12:52077124:- SNRK-AS1^ENSG00000234617.2 chr3:43347775:- LH00995:25:23T55JLT4:6:1188:45940:5246 . YES_LDAS 0.0017 GT 1.9086 AG 1.9329 "[""INTERCHROMOSOMAL[chr12--chr3]""]" chr12:52077124-chr3:43347775 False 0 Read count too low: 1 < 8 FAIL 1 AC023908.3--FAM122C 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC023908.3^ENSG00000261136.1 chr15:39783065:+ FAM122C^ENSG00000156500.15 chrX:134845205:+ LH00995:25:23T55JLT4:8:1463:2820:2107 . YES_LDAS 0.0034 GT 1.9656 AG 1.8323 "[""INTERCHROMOSOMAL[chr15--chrX]""]" chr15:39783065-chrX:134845205 False 0 Read count too low: 1 < 8 FAIL 1 AC021851.1--NUP35 1 0 1.0 0.0 ONLY_REF_SPLICE AC021851.1^ENSG00000272800.3 chr2:183182680:+ NUP35^ENSG00000163002.13 chr2:183151508:+ LH00995:25:23T55JLT4:6:1145:36790:2794 . YES_LDAS 0.0034 GT 1.8062 AG 1.8256 "[""INTRACHROMOSOMAL[chr2:0.02Mb]"",""LOCAL_REARRANGEMENT:+:[17126]""]" chr2:183182680-chr2:183151508 True pair|recurrent breakpoints aih_curated_blacklist score(3) 0 Blacklisted; aih_curated_blacklist score(3) FAIL 1 AC019186.1--ACVR1C 1 0 1.0 0.0 ONLY_REF_SPLICE AC019186.1^ENSG00000234584.1 chr2:157735944:- ACVR1C^ENSG00000123612.16 chr2:157587417:- LH00995:25:23T55JLT4:5:1197:48383:4069 . YES_LDAS 0.0034 GT 1.9899 AG 1.8256 "[""INTRACHROMOSOMAL[chr2:0.10Mb]"",""NEIGHBORS[96844]""]" chr2:157735944-chr2:157587417 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 AC019077.1--STPG2 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC019077.1^ENSG00000214559.3 chr4:98261525:- STPG2^ENSG00000163116.10 chr4:97981318:- LH00995:25:23T55JLT4:8:2155:50398:21122 . YES_LDAS 0.0034 GT 1.371 AG 1.7968 "[""INTRACHROMOSOMAL[chr4:0.11Mb]""]" chr4:98261525-chr4:97981318 False 0 Read count too low: 1 < 8 FAIL 1 AC016629.1--RPL23AP82 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC016629.1^ENSG00000269032.1 chr19:58589114:+ RPL23AP82^ENSG00000184319.16 chr22:50788895:+ LH00995:25:23T55JLT4:6:2468:19979:29221 . NO_LDAS 0.0034 GT 1.8256 AG 1.8892 "[""INTERCHROMOSOMAL[chr19--chr22]""]" chr19:58589114-chr22:50788895 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC016405.3--SH2D2A 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC016405.3^ENSG00000272384.1 chr8:122780084:- SH2D2A^ENSG00000027869.12 chr1:156809490:- LH00995:25:23T55JLT4:5:2277:49111:6871 . NO_LDAS 0.0034 GT 1.3996 AG 1.5546 "[""INTERCHROMOSOMAL[chr8--chr1]""]" chr8:122780084-chr1:156809490 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC010307.1--RPL6P27 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC010307.1^ENSG00000240611.1 chr5:133172977:- RPL6P27^ENSG00000235552.4 chr18:6463003:- LH00995:25:23T55JLT4:6:1128:33643:20968 . YES_LDAS 0.0034 GT 1.8295 AG 1.5058 "[""INTERCHROMOSOMAL[chr5--chr18]""]" chr5:133172977-chr18:6463003 False 0 Read count too low: 1 < 8 FAIL 1 AC009315.1--FSIP2 1 0 1.0 0.0 ONLY_REF_SPLICE AC009315.1^ENSG00000286797.1 chr2:185434191:+ FSIP2^ENSG00000188738.15 chr2:185739346:+ LH00995:25:23T55JLT4:6:1386:3912:17899 . YES_LDAS 0.0034 GT 1.8892 AG 1.8256 "[""INTRACHROMOSOMAL[chr2:0.23Mb]""]" chr2:185434191-chr2:185739346 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 AC009220.2--IL3RA 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC009220.2^ENSG00000239254.1 chr7:139172613:- IL3RA^ENSG00000185291.12 chrX:1341731:+ LH00995:25:23T55JLT4:5:1103:5021:6871 . NO_LDAS 0.0034 GT 1.8295 AG 1.7465 "[""INTERCHROMOSOMAL[chr7--chrY]""]" chr7:139172613-chrX:1341731 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC008802.1--AL353691.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC008802.1^ENSG00000254170.1 chr5:78708776:- AL353691.1^ENSG00000237875.1 chrX:41790238:- LH00995:25:23T55JLT4:6:1178:37462:28366 . NO_LDAS 0.0034 GT 1.8323 AG 1.9329 "[""INTERCHROMOSOMAL[chr5--chrX]""]" chr5:78708776-chrX:41790238 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC008522.1--AC079760.2 1 0 0.5 0.0 INCL_NON_REF_SPLICE AC008522.1^ENSG00000279232.2 chr5:98793600:- AC079760.2^ENSG00000243144.7 chr7:91320878:+ LH00995:25:23T55JLT4:6:2260:4349:29305 . NO_LDAS 0.0017 GC 1.9219 AG 1.7819 "[""INTERCHROMOSOMAL[chr5--chr7]""]" chr5:98793600-chr7:91320878 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC007216.5--CRYM-AS1 1 0 0.06 0.0 INCL_NON_REF_SPLICE AC007216.5^ENSG00000277458.1 chr16:11926304:+ CRYM-AS1^ENSG00000189149.12 chr16:21338921:+ LH00995:25:23T55JLT4:6:2131:19599:25395 . YES_LDAS 0.0002 GT 1.8892 AG 1.9656 "[""INTRACHROMOSOMAL[chr16:9.37Mb]""]" chr16:11926304-chr16:21338921 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 AC007115.1--AC096533.1 1 0 0.5 0.0 INCL_NON_REF_SPLICE AC007115.1^ENSG00000258148.2 chr12:91193881:+ AC096533.1^ENSG00000236942.1 chr1:205625980:+ LH00995:25:23T55JLT4:6:2154:48796:11285 . NO_LDAS 0.0017 GT 1.9086 AG 1.6402 "[""INTERCHROMOSOMAL[chr12--chr1]""]" chr12:91193881-chr1:205625980 False 0 Excluded SpliceType: INCL_NON_REF_SPLICE FAIL 1 AC005786.3--ARL15 1 0 1.0 0.0 INCL_NON_REF_SPLICE AC005786.3^ENSG00000267436.1 chr19:3544708:+ ARL15^ENSG00000185305.11 chr5:54310535:- LH00995:25:23T55JLT4:8:1403:10740:24877 . YES_LDAS 0.0034 GT 1.7968 AG 1.8295 "[""INTERCHROMOSOMAL[chr19--chr5]""]" chr19:3544708-chr5:54310535 False 0 Read count too low: 1 < 8 FAIL 1 AC005323.2--AC005323.1 1 0 1.0 0.0 ONLY_REF_SPLICE AC005323.2^ENSG00000272736.5 chr17:10406238:+ AC005323.1^ENSG00000214970.8 chr17:10608354:+ LH00995:25:23T55JLT4:6:1387:22843:7838 . YES_LDAS 0.0034 GT 1.6895 AG 1.9656 "[""INTRACHROMOSOMAL[chr17:0.04Mb]"",""NEIGHBORS[41178]""]" chr17:10406238-chr17:10608354 False 0 Read count too low: 1 < 8 FAIL 1 AC005255.1--AC108174.1 1 0 0.5 0.0 INCL_NON_REF_SPLICE AC005255.1^ENSG00000256210.3 chr19:14792465:+ AC108174.1^ENSG00000248112.1 chr5:82921113:- LH00995:25:23T55JLT4:5:2243:23814:17030 . YES_LDAS 0.0017 GT 1.9329 AG 1.9899 "[""INTERCHROMOSOMAL[chr19--chr5]""]" chr19:14792465-chr5:82921113 False 0 Read count too low: 1 < 8 FAIL 1 AC004923.1--FAM86B3P 1 0 0.08 0.0 ONLY_REF_SPLICE AC004923.1^ENSG00000254610.3 chr11:67955482:- FAM86B3P^ENSG00000173295.8 chr8:8235816:+ LH00995:25:23T55JLT4:8:2143:33231:27091 . YES_LDAS 0.0003 GT 1.4566 AG 1.7056 "[""INTERCHROMOSOMAL[chr11--chr8]""]" chr11:67955482-chr8:8235816 False 0 Read count too low: 1 < 8 FAIL 1 AC003035.1--GPM6B 1 0 1.0 0.0 ONLY_REF_SPLICE AC003035.1^ENSG00000212663.2 chrX:13988690:- GPM6B^ENSG00000046653.15 chrX:13785808:- LH00995:25:23T55JLT4:6:1447:51045:18123 . YES_LDAS 0.0034 GT 1.9329 AG 1.8892 "[""INTRACHROMOSOMAL[chrX:0.04Mb]"",""NEIGHBORS[41428]""]" chrX:13988690-chrX:13785808 True pair|recurrent breakpoints 0 Blacklisted FAIL 1 ABITRAM--AC021097.1 1 0 1.0 0.0 INCL_NON_REF_SPLICE ABITRAM^ENSG00000119328.12 chr9:108936437:+ AC021097.1^ENSG00000272661.1 chr7:151240403:+ LH00995:25:23T55JLT4:5:2444:19413:27735 . YES_LDAS 0.0034 GT 1.7819 AG 1.8062 "[""INTERCHROMOSOMAL[chr9--chr7]""]" chr9:108936437-chr7:151240403 False 0 Read count too low: 1 < 8 FAIL 1 ABHD16B--AC092338.2 1 0 1.0 0.0 INCL_NON_REF_SPLICE ABHD16B^ENSG00000183260.7 chr20:63861870:+ AC092338.2^ENSG00000260790.1 chr16:22375451:+ LH00995:25:23T55JLT4:6:2145:33732:12686 . YES_LDAS 0.0034 GT 1.5219 AG 1.8256 "[""INTERCHROMOSOMAL[chr20--chr16]""]" chr20:63861870-chr16:22375451 False 0 Read count too low: 1 < 8 FAIL 1 ABCA3--RDH5 1 0 1.0 0.0 ONLY_REF_SPLICE ABCA3^ENSG00000167972.14 chr16:2283186:- RDH5^ENSG00000135437.10 chr12:55723886:+ LH00995:25:23T55JLT4:2:1150:23304:2499 . YES_LDAS 0.0034 GT 1.7465 AG 1.9219 "[""INTERCHROMOSOMAL[chr16--chr12]""]" chr16:2283186-chr12:55723886 False 0 Read count too low: 1 < 8 FAIL 1