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Filename
discrepancies/discrepant_events.tsv
Full Path
s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/dd/0fe100b6f9e81e74c64a75183e7a1b/discrepancies/discrepant_events.tsv
Size
1.4 MB
Task
RECALL:EXPORT_DISCREPANT_CALLS (discrepancies)
Attempt

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record_type patient_id variant_type event_id FUSION_ID FUSION_ID_norm original_status adjudicated_status fn_note test_tools meta_patient_id meta_experiment meta_specimen_id meta_specimen_source meta_dspe_ticket meta_specimen_type meta_form_factor meta_raw_cancer_type meta_normalized_cancer_type meta_raw_cancer_subtype meta_raw_cancer_stage meta_sex meta_age meta_specimen_location meta_source_id meta_lot meta_specimen_failed meta_sample_id meta_sample_type meta_extraction_method meta_sample_location meta_sample_barcode meta_extraction_conc meta_sample_volume_remaining meta_dv200 meta_din meta_rin meta_extraction_plate meta_extraction_well meta_sample_reserved meta_sample_failed meta_sample_failure_notes meta_library_id meta_library_input_mass meta_library_volume meta_library_conc meta_library_plate meta_library_well meta_ratio_sample_secondary_sample meta_library_failed meta_library_failure_notes meta_sequencing_library_id meta_run_name meta_lane meta_loading_ratio meta_seq_library_failed meta_seq_library_failure_notes test_DATA_SOURCE test_SAMPLE_ID test_SVTYPE test_CHRA test_CHRB test_GENEA test_GENEB test_POSA test_POSB test_BREAKPOINT_ID test_ORIENTATION test_FOUND_IN test_TOOL_HITS test_PR test_SR test_FFPM test_FUSION_READS test_FILTER test_FRAME_STATUS test_FUSION_ID test_FUSION_ID_norm test_ANNOTATIONS test_AR_CONFIDENCE test_AR_TYPE test_AR_SITE_A test_AR_SITE_B test_AR_COVERAGE_A test_AR_COVERAGE_B test_AR_FILTER_DUPLICATES test_AR_FILTER_MISMATCHES test_AR_FILTER_MISMAPPERS test_AR_FILTER_MULTIMAPPERS test_SF_SPLICE_TYPE test_SF_LARGE_ANCHOR test_SF_BREAK_ENTROPY_MIN test_SF_IS_BLACKLISTED test_SF_IS_NEIGHBORS test_SF_IS_NEIGHBORS_OVERLAP test_SF_BREAK_DINUC_LEFT test_SF_BREAK_DINUC_RIGHT test_SPLIT_READS1 test_SPLIT_READS2 test_IS_INFRAME test_FILTER_REASON test_ANNOT_DB_HITS test_AR_FILTER test_AR_aih_curated_reason test_AR_blacklisted test_AR_breakpoint1 test_AR_breakpoint2 test_AR_breakpoint_ID test_AR_closest_genomic_breakpoint1 test_AR_closest_genomic_breakpoint2 test_AR_confidence test_AR_coverage1 test_AR_coverage2 test_AR_direction1 test_AR_direction2 test_AR_discordant_mates test_AR_filter_reason test_AR_filters test_AR_fusion_transcript test_AR_gene1 test_AR_gene2 test_AR_gene_id1 test_AR_gene_id2 test_AR_peptide_sequence test_AR_read_identifiers test_AR_reading_frame test_AR_retained_protein_domains test_AR_site1 test_AR_site2 test_AR_split_reads1 test_AR_split_reads2 test_AR_strand1(gene/fusion) test_AR_strand2(gene/fusion) test_AR_tags test_AR_total_reads test_AR_transcript_id1 test_AR_transcript_id2 test_AR_type test_AR_vaf1 test_AR_vaf2 test_AR_vaf_avg test_SF_CALL test_SF_CDS_LEFT_ID test_SF_CDS_LEFT_RANGE test_SF_CDS_RIGHT_ID test_SF_CDS_RIGHT_RANGE test_SF_FFPM test_SF_FILTER test_SF_FUSION_CDS test_SF_FUSION_MODEL test_SF_FUSION_TRANSL test_SF_FusionName test_SF_JunctionReadCount test_SF_JunctionReads test_SF_LargeAnchorSupport test_SF_LeftBreakDinuc test_SF_LeftBreakEntropy test_SF_LeftBreakpoint test_SF_LeftGene test_SF_PFAM_LEFT test_SF_PFAM_RIGHT test_SF_PROT_FUSION_TYPE test_SF_RightBreakDinuc test_SF_RightBreakEntropy test_SF_RightBreakpoint test_SF_RightGene test_SF_SpanningFragCount test_SF_SpanningFrags test_SF_SpliceType test_SF_aih_curated_reason test_SF_annots test_SF_blacklist_reasons test_SF_blacklisted test_SF_breakpoint_ID test_SF_est_J test_SF_est_S test_SF_filter_reason test_SF_total_reads test_patient_id caller
fp_audit 1173_9C fusion AC003070--ERBB2 ERBB2--AC003070 AC003070--ERBB2 FP FP Arriba dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 AC003070 39724986 45382133 chr17:39724986-chr17:45382133 +,- Arriba 1 1 81 82 PASS out-of-frame ERBB2--AC003070 AC003070--ERBB2 confidence:medium;duplicates(97),mismatches(27) medium inversion intron intergenic 1853 7 97.0 27.0 0.0 0.0 78 3 False duplicates(97),mismatches(27) FAIL False chr17:39724986 chr17:45382133 chr17:39724986-chr17:45382133 . . medium 1853 7 downstream downstream 1 confidence_below_min(medium<high) duplicates(97),mismatches(27) ACACAGCTTATGCCCTATGGCTGCCTCTTAGACCATGTCCGGGAAAACCGCGGACGCCTGGGCTCCCAGGACCTGCTGAACTGGTGTATGCAGATTGCCAAGGTATGCACCTGGGCTCTTTGCAGGTCTCTCCGGAGCAAACCCCTATGTCCACAAGGGGCTAGGATGGGGACTCTT|AAGCCAGGCACAAAAAAGAGCAGTTGTTATGGTTCCATTTATATAAAACTCAAAAGCAGGCA ERBB2 AC003070.2(10076),ARHGAP27(11769) ENSG00000141736 . TQLMPYGCLLDHVRENRGRLGSQDLLNWCMQIAKvctwalcrslrskplcpqgarmgtl|kpgtkksscygsiyiklksr LH00995:25:23T55JLT4:1:1101:2578:21108,LH00995:25:23T55JLT4:1:1111:24874:19342,LH00995:25:23T55JLT4:1:1113:35949:24064,LH00995:25:23T55JLT4:1:1113:35957:24050,LH00995:25:23T55JLT4:1:1118:21710:12378,LH00995:25:23T55JLT4:1:1118:21718:12364,LH00995:25:23T55JLT4:1:1118:21727:12378,LH00995:25:23T55JLT4:1:1129:14543:1560,LH00995:25:23T55JLT4:1:1175:30205:12350,LH00995:25:23T55JLT4:1:1176:39921:11747,LH00995:25:23T55JLT4:1:1184:43901:11803,LH00995:25:23T55JLT4:1:1216:40495:12742,LH00995:25:23T55JLT4:1:1243:38335:7039,LH00995:25:23T55JLT4:1:1255:47348:6927,LH00995:25:23T55JLT4:1:1255:47364:6927,LH00995:25:23T55JLT4:1:1285:8095:13345,LH00995:25:23T55JLT4:1:1318:17552:8230,LH00995:25:23T55JLT4:1:1328:41418:3438,LH00995:25:23T55JLT4:1:1452:45163:1238,LH00995:25:23T55JLT4:1:1463:21840:25914,LH00995:25:23T55JLT4:1:1473:2440:19384,LH00995:25:23T55JLT4:1:2124:2658:18866,LH00995:25:23T55JLT4:1:2146:49775:24835,LH00995:25:23T55JLT4:1:2174:30399:12910,LH00995:25:23T55JLT4:1:2181:30585:9365,LH00995:25:23T55JLT4:1:2193:32058:5918,LH00995:25:23T55JLT4:1:2230:28781:29641,LH00995:25:23T55JLT4:1:2291:13887:4713,LH00995:25:23T55JLT4:1:2340:21160:21906,LH00995:25:23T55JLT4:1:2375:50915:11705,LH00995:25:23T55JLT4:1:2376:17431:1967,LH00995:25:23T55JLT4:2:1116:17585:13667,LH00995:25:23T55JLT4:2:1127:35949:13807,LH00995:25:23T55JLT4:2:1181:27616:21626,LH00995:25:23T55JLT4:2:1186:50122:1448,LH00995:25:23T55JLT4:2:1231:30666:19987,LH00995:25:23T55JLT4:2:1267:3492:24176,LH00995:25:23T55JLT4:2:1275:19510:17619,LH00995:25:23T55JLT4:2:1290:29728:24302,LH00995:25:23T55JLT4:2:1422:35326:8413,LH00995:25:23T55JLT4:2:1432:29986:1126,LH00995:25:23T55JLT4:2:1492:28190:28534,LH00995:25:23T55JLT4:2:2107:29137:17731,LH00995:25:23T55JLT4:2:2111:33222:28983,LH00995:25:23T55JLT4:2:2129:2828:18684,LH00995:25:23T55JLT4:2:2131:22657:18053,LH00995:25:23T55JLT4:2:2155:5757:28016,LH00995:25:23T55JLT4:2:2161:17706:15839,LH00995:25:23T55JLT4:2:2164:20287:19524,LH00995:25:23T55JLT4:2:2188:28538:18319,LH00995:25:23T55JLT4:2:2195:15222:21598,LH00995:25:23T55JLT4:2:2205:18353:6451,LH00995:25:23T55JLT4:2:2232:14219:28941,LH00995:25:23T55JLT4:2:2259:12682:12798,LH00995:25:23T55JLT4:2:2277:5150:9618,LH00995:25:23T55JLT4:2:2292:8823:5778,LH00995:25:23T55JLT4:2:2314:46555:7908,LH00995:25:23T55JLT4:2:2325:29032:10682,LH00995:25:23T55JLT4:2:2359:36936:8427,LH00995:25:23T55JLT4:2:2396:52194:18375,LH00995:25:23T55JLT4:2:2421:20481:2738,LH00995:25:23T55JLT4:2:2464:15505:24891,LH00995:25:23T55JLT4:2:2464:46442:25031,LH00995:25:23T55JLT4:3:1114:36151:10626,LH00995:25:23T55JLT4:3:1150:21621:4629,LH00995:25:23T55JLT4:3:1156:8467:22145,LH00995:25:23T55JLT4:3:1271:12229:21122,LH00995:25:23T55JLT4:3:1275:45519:12840,LH00995:25:23T55JLT4:3:1334:45042:27735,LH00995:25:23T55JLT4:3:1467:42720:29347,LH00995:25:23T55JLT4:3:1485:34096:27749,LH00995:25:23T55JLT4:3:1486:42405:4923,LH00995:25:23T55JLT4:3:2242:48262:25129,LH00995:25:23T55JLT4:3:2252:22309:26923,LH00995:25:23T55JLT4:3:2265:2675:16792,LH00995:25:23T55JLT4:3:2265:9050:16540,LH00995:25:23T55JLT4:3:2290:44589:2093,LH00995:25:23T55JLT4:3:2336:11517:18936,LH00995:25:23T55JLT4:3:2359:48901:19258,LH00995:25:23T55JLT4:3:2376:40512:10276,LH00995:25:23T55JLT4:3:2417:27729:13275,LH00995:25:23T55JLT4:3:2459:40366:22159,LH00995:25:23T55JLT4:3:2483:9122:10556,LH00995:25:23T55JLT4:4:1165:24663:6983,LH00995:25:23T55JLT4:4:1174:41353:11649,LH00995:25:23T55JLT4:4:1202:23272:14942,LH00995:25:23T55JLT4:4:1247:51708:1953,LH00995:25:23T55JLT4:4:1341:19300:16918,LH00995:25:23T55JLT4:4:1345:23822:15222,LH00995:25:23T55JLT4:4:1350:35172:16414,LH00995:25:23T55JLT4:4:1397:41191:21598,LH00995:25:23T55JLT4:4:1433:18224:8384,LH00995:25:23T55JLT4:4:1477:9462:23728,LH00995:25:23T55JLT4:4:2153:36790:26250,LH00995:25:23T55JLT4:4:2175:29995:13947,LH00995:25:23T55JLT4:4:2193:15813:26797,LH00995:25:23T55JLT4:4:2208:44540:17338,LH00995:25:23T55JLT4:4:2212:47242:19020,LH00995:25:23T55JLT4:4:2220:48003:7782,LH00995:25:23T55JLT4:4:2222:9632:17549,LH00995:25:23T55JLT4:4:2240:38780:12378,LH00995:25:23T55JLT4:4:2244:8896:23560,LH00995:25:23T55JLT4:4:2281:22188:2331,LH00995:25:23T55JLT4:5:1147:36256:10725,LH00995:25:23T55JLT4:5:1147:36264:10739,LH00995:25:23T55JLT4:5:1205:4026:7306,LH00995:25:23T55JLT4:5:1212:19599:17100,LH00995:25:23T55JLT4:5:1213:40512:21094,LH00995:25:23T55JLT4:5:1220:21387:18151,LH00995:25:23T55JLT4:5:1257:23264:2569,LH00995:25:23T55JLT4:5:1285:13135:23448,LH00995:25:23T55JLT4:5:1298:36167:4881,LH00995:25:23T55JLT4:5:1301:10603:24555,LH00995:25:23T55JLT4:5:1303:2335:27721,LH00995:25:23T55JLT4:5:1306:14260:24611,LH00995:25:23T55JLT4:5:1308:38109:14914,LH00995:25:23T55JLT4:5:1317:1016:25213,LH00995:25:23T55JLT4:5:1371:6242:4783,LH00995:25:23T55JLT4:5:1377:51579:4223,LH00995:25:23T55JLT4:5:1407:44743:2667,LH00995:25:23T55JLT4:5:1427:27835:29319,LH00995:25:23T55JLT4:5:1429:35698:2359,LH00995:25:23T55JLT4:5:1459:16144:13275,LH00995:25:23T55JLT4:5:1465:42971:23728,LH00995:25:23T55JLT4:5:2115:26856:1869,LH00995:25:23T55JLT4:5:2132:21492:23434,LH00995:25:23T55JLT4:5:2230:25076:14592,LH00995:25:23T55JLT4:5:2244:38983:13681,LH00995:25:23T55JLT4:5:2345:29372:15811,LH00995:25:23T55JLT4:5:2362:33247:18431,LH00995:25:23T55JLT4:5:2362:33368:18417,LH00995:25:23T55JLT4:5:2405:4794:28842,LH00995:25:23T55JLT4:5:2408:20812:18333,LH00995:25:23T55JLT4:5:2438:12836:21892,LH00995:25:23T55JLT4:5:2439:13370:23181,LH00995:25:23T55JLT4:5:2459:21079:14984,LH00995:25:23T55JLT4:5:2463:6534:13499,LH00995:25:23T55JLT4:5:2470:31823:20029,LH00995:25:23T55JLT4:6:1152:12213:14564,LH00995:25:23T55JLT4:6:1158:21832:15839,LH00995:25:23T55JLT4:6:1164:18620:21654,LH00995:25:23T55JLT4:6:1189:32227:15349,LH00995:25:23T55JLT4:6:1202:48480:28646,LH00995:25:23T55JLT4:6:1207:42647:16918,LH00995:25:23T55JLT4:6:1231:29088:28184,LH00995:25:23T55JLT4:6:1283:9462:24709,LH00995:25:23T55JLT4:6:1303:25472:6114,LH00995:25:23T55JLT4:6:1346:42089:3704,LH00995:25:23T55JLT4:6:1348:12269:16988,LH00995:25:23T55JLT4:6:1383:43165:21318,LH00995:25:23T55JLT4:6:1383:43181:21318,LH00995:25:23T55JLT4:6:1383:43189:21304,LH00995:25:23T55JLT4:6:1389:13378:20785,LH00995:25:23T55JLT4:6:1412:5571:3088,LH00995:25:23T55JLT4:6:1420:8985:23546,LH00995:25:23T55JLT4:6:1420:8993:23560,LH00995:25:23T55JLT4:6:1433:17172:15811,LH00995:25:23T55JLT4:6:2133:6145:22383,LH00995:25:23T55JLT4:6:2134:47639:11832,LH00995:25:23T55JLT4:6:2194:52040:19342,LH00995:25:23T55JLT4:6:2243:28207:12868,LH00995:25:23T55JLT4:6:2246:3152:17731,LH00995:25:23T55JLT4:6:2252:36823:9632,LH00995:25:23T55JLT4:6:2279:5870:3382,LH00995:25:23T55JLT4:6:2285:39298:5064,LH00995:25:23T55JLT4:6:2367:20287:15965,LH00995:25:23T55JLT4:6:2379:47024:12924,LH00995:25:23T55JLT4:6:2398:25666:13541,LH00995:25:23T55JLT4:8:1112:42866:26348,LH00995:25:23T55JLT4:8:1112:42882:26348,LH00995:25:23T55JLT4:8:1112:43092:27329,LH00995:25:23T55JLT4:8:1153:47518:19917,LH00995:25:23T55JLT4:8:1153:47526:19903,LH00995:25:23T55JLT4:8:1195:43553:4447,LH00995:25:23T55JLT4:8:1216:47121:8132,LH00995:25:23T55JLT4:8:1225:31046:28800,LH00995:25:23T55JLT4:8:1293:27543:19034,LH00995:25:23T55JLT4:8:1307:16225:16778,LH00995:25:23T55JLT4:8:1338:6792:14872,LH00995:25:23T55JLT4:8:1401:15902:19384,LH00995:25:23T55JLT4:8:1440:40714:23854,LH00995:25:23T55JLT4:8:1444:52153:2527,LH00995:25:23T55JLT4:8:1451:34201:2457,LH00995:25:23T55JLT4:8:1462:44686:14984,LH00995:25:23T55JLT4:8:1470:29477:2289,LH00995:25:23T55JLT4:8:2105:51846:23518,LH00995:25:23T55JLT4:8:2121:37243:27511,LH00995:25:23T55JLT4:8:2207:8435:27806,LH00995:25:23T55JLT4:8:2207:8443:27792,LH00995:25:23T55JLT4:8:2227:26014:8427,LH00995:25:23T55JLT4:8:2239:7601:24709,LH00995:25:23T55JLT4:8:2275:38610:10206,LH00995:25:23T55JLT4:8:2282:4770:23252,LH00995:25:23T55JLT4:8:2297:16751:7964,LH00995:25:23T55JLT4:8:2306:51077:6857,LH00995:25:23T55JLT4:8:2361:48415:16792,LH00995:25:23T55JLT4:8:2393:7618:16245,LH00995:25:23T55JLT4:8:2455:27729:6773,LH00995:25:23T55JLT4:8:2455:36936:10276,LH00995:25:23T55JLT4:1:1370:3540:19776,LH00995:25:23T55JLT4:1:1370:3548:19790,LH00995:25:23T55JLT4:2:1232:36467:4223,LH00995:25:23T55JLT4:6:1269:17940:10949,LH00995:25:23T55JLT4:2:1112:40301:21990,LH00995:25:23T55JLT4:4:1196:19405:26292,LH00995:25:23T55JLT4:6:2270:16598:2878 out-of-frame Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Protein_kinase_domain(43%),Receptor_L_domain(100%)| intron intergenic 78 3 +/+ ./- . 82 ENST00000584601 . inversion 0.040641988092156356 0.3333333333333333 0.18698766071274484 1173_9C Arriba
fp_audit 1173_9C fusion CWC25--ERBB2 ERBB2--CWC25 CWC25--ERBB2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 CWC25 39717480 38821073 chr17:39717480-chr17:38821073 +,- Arriba 1 0 116 116 PASS out-of-frame ERBB2--CWC25 CWC25--ERBB2 confidence:medium;duplicates(167),mismatches(3) medium inversion CDS/splice-site CDS/splice-site 65535 4215 167.0 3.0 0.0 0.0 71 45 False duplicates(167),mismatches(3) FAIL False chr17:39717480 chr17:38821073 chr17:39717480-chr17:38821073 . . medium 65535 4215 downstream downstream 0 confidence_below_min(medium<high) duplicates(167),mismatches(3) CCCTCCCTTCTGCGTGGCCCGCTGCCCCAGCGGTGTGAAACCTGACCTCTCCTACATGCCCATCTGGAAGTTTCCAGATGAGGAGGGCGCATGCCAGCCTTGCCCCATCAACTGCACCCACTC|AATCTGAAGAAGAGCTGGCACCCGCAGACCCTCAGGAATGTGGAGAAAGTGTGGAAGGCCGAGCAGAAGCATGAGGCTGAGCGGAAGAAGATTGAGGAGCTTCAGCGGGAGCTGCGAGA ERBB2 CWC25 ENSG00000141736 ENSG00000273559 PPFCVARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHs|i* 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55JLT4:8:1205:41102:23882,LH00995:25:23T55JLT4:8:1240:22341:16526,LH00995:25:23T55JLT4:8:1260:44605:11621,LH00995:25:23T55JLT4:8:1260:44613:11607,LH00995:25:23T55JLT4:8:1277:16023:27665,LH00995:25:23T55JLT4:8:1289:12399:1967,LH00995:25:23T55JLT4:8:1348:36636:14326,LH00995:25:23T55JLT4:8:1374:6873:19973,LH00995:25:23T55JLT4:8:1378:9389:9393,LH00995:25:23T55JLT4:8:1381:47801:11243,LH00995:25:23T55JLT4:8:1381:47809:11229,LH00995:25:23T55JLT4:8:1381:47809:11257,LH00995:25:23T55JLT4:8:1389:43327:20113,LH00995:25:23T55JLT4:8:1402:19324:9590,LH00995:25:23T55JLT4:8:1417:17633:18459,LH00995:25:23T55JLT4:8:1428:50139:10304,LH00995:25:23T55JLT4:8:1429:9325:1266,LH00995:25:23T55JLT4:8:1440:5676:25409,LH00995:25:23T55JLT4:8:1447:7278:27203,LH00995:25:23T55JLT4:8:1465:2116:18011,LH00995:25:23T55JLT4:8:1477:36361:5442,LH00995:25:23T55JLT4:8:2112:19283:25914,LH00995:25:23T55JLT4:8:2178:31491:15307,LH00995:25:23T55JLT4:8:2180:23692:10598,LH00995:25:23T55JLT4:8:2215:42130:7446,LH00995:25:23T55JLT4:8:2219:38020:21430,LH00995:25:23T55JLT4:8:2262:17107:8889,LH00995:25:23T55JLT4:8:2362:51239:25185,LH00995:25:23T55JLT4:8:2366:50673:4279,LH00995:25:23T55JLT4:8:2430:21435:26867,LH00995:25:23T55JLT4:8:2432:1785:17464,LH00995:25:23T55JLT4:8:2479:28409:5848,LH00995:25:23T55JLT4:8:2496:15457:8861 out-of-frame Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(92%),Receptor_L_domain(100%)|N-terminal_domain_of_CBF1_interacting_co-repressor_CIR(100%),Pre-mRNA_splicing_factor(100%) CDS/splice-site CDS/splice-site 71 45 +/+ -/- . 116 ENST00000584601 ENST00000614790 inversion 0.001082218089808859 0.01056338028169014 0.0058227991857495 1173_9C Arriba
fp_audit 1173_9C fusion CWC25--ERBB2 ERBB2--CWC25 CWC25--ERBB2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 CWC25 39716605 38821073 chr17:39716605-chr17:38821073 +,- Arriba 1 0 7 7 PASS in-frame ERBB2--CWC25 CWC25--ERBB2 confidence:medium;duplicates(9) medium inversion CDS/splice-site CDS/splice-site 65535 4215 9.0 0.0 0.0 0.0 3 4 True duplicates(9) FAIL False chr17:39716605 chr17:38821073 chr17:39716605-chr17:38821073 . . medium 65535 4215 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(7.0<8.0) duplicates(9) GGCCCACCCAGTGTGTCAACTGCAGCCAGTTCCTTCGGGGCCAGGAGTGCGTGGAGGAATGCCGAGTACTGCAGGG___GCTCCCCAGGGAGTATGTGAATGCCAGGCACTGTTTGCCGTGCCACCCTGAGTGTCAGCCCCAGAATGGCTCAGTGACCTGTTTTGGACCG|AATCTGAAGAAGAGCTGGCACCCGCAGACCCTCAGGAATGTGGAGAAAGTGTGGAAGGCCGAGCAGAAGCATGAGGCTGAGCGGAAGAAGATTGAGGAGCTTCAGCGGGAGCTGCGAGAAGAGAGAGCCCGGGAAGAGATGCAGCGCTATGCGGAGGATGTTGGGGCCGTCAAGTAAGTGA ERBB2 CWC25 ENSG00000141736 ENSG00000273559 PTQCVNCSQFLRGQECVEECRVLQGLPREYVNARHCLPCHPECQPQNGSVTCFGP|NLKKSWHPQTLRNVEKVWKAEQKHEAERKKIEELQRELREERAREEMQRYAEDVGAVk* LH00995:25:23T55JLT4:1:2417:28247:14564,LH00995:25:23T55JLT4:3:1372:9632:22901,LH00995:25:23T55JLT4:3:1476:47526:14578,LH00995:25:23T55JLT4:3:2280:32187:16203,LH00995:25:23T55JLT4:4:1245:35771:28688,LH00995:25:23T55JLT4:4:2197:24768:11313,LH00995:25:23T55JLT4:6:1368:11121:17268,LH00995:25:23T55JLT4:6:1426:1874:1252,LH00995:25:23T55JLT4:6:2322:37251:23181,LH00995:25:23T55JLT4:2:1248:41822:20505,LH00995:25:23T55JLT4:2:1477:49006:20421,LH00995:25:23T55JLT4:3:1316:12342:3270,LH00995:25:23T55JLT4:5:2455:8726:17016,LH00995:25:23T55JLT4:6:1480:21023:3957,LH00995:25:23T55JLT4:6:2152:6072:20267,LH00995:25:23T55JLT4:6:2396:14559:14704 in-frame Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(52%),Receptor_L_domain(100%)|N-terminal_domain_of_CBF1_interacting_co-repressor_CIR(100%),Pre-mRNA_splicing_factor(100%) CDS/splice-site CDS/splice-site 3 4 +/+ -/- . 7 ENST00000584601 ENST00000614790 inversion 4.577497024626934e-05 0.0009480919649205973 0.0004969334675834333 1173_9C Arriba
fp_audit 1173_9C fusion CWC25--ERBB2 ERBB2--CWC25 CWC25--ERBB2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 CWC25 39717480 38821073 chr17:39717480-chr17:38821073 +,- STAR-Fusion 1 0 121 0.4112 121 PASS out-of-frame ERBB2--CWC25 CWC25--ERBB2 "[""INTRACHROMOSOMAL[chr17:0.86Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.6402 False False False GT AG 121 False 1 ENST00000269571.10 1-1898 ENST00000614790.5 19-1278 0.4112 PASS atggagctggcggccttgtgccgctgggggctcctcctcgccctcttgccccccggagccgcgagcacccaagtgtgcaccggcacagacatgaagctgcggctccctgccagtcccgagacccacctggacatgctccgccacctctaccagggctgccaggtggtgcagggaaacctggaactcacctacctgcccaccaatgccagcctgtccttcctgcaggatatccaggaggtgcagggctacgtgctcatcgctcacaaccaagtgaggcaggtcccactgcagaggctgcggattgtgcgaggcacccagctctttgaggacaactatgccctggccgtgctagacaatggagacccgctgaacaataccacccctgtcacaggggcctccccaggaggcctgcgggagctgcagcttcgaagcctcacagagatcttgaaaggaggggtcttgatccagcggaacccccagctctgctaccaggacacgattttgtggaaggacatcttccacaagaacaaccagctggctctcacactgatagacaccaaccgctctcgggcctgccacccctgttctccgatgtgtaagggctcccgctgctggggagagagttctgaggattgtcagagcctgacgcgcactgtctgtgccggtggctgtgcccgctgcaaggggccactgcccactgactgctgccatgagcagtgtgctgccggctgcacgggccccaagcactctgactgcctggcctgcctccacttcaaccacagtggcatctgtgagctgcactgcccagccctggtcacctacaacacagacacgtttgagtccatgcccaatcccgagggccggtatacattcggcgccagctgtgtgactgcctgtccctacaactacctttctacggacgtgggatcctgcaccctcgtctgccccctgcacaaccaagaggtgacagcagaggatggaacacagcggtgtgagaagtgcagcaagccctgtgcccgagtgtgctatggtctgggcatggagcacttgcgagaggtgagggcagttaccagtgccaatatccaggagtttgctggctgcaagaagatctttgggagcctggcatttctgccggagagctttgatggggacccagcctccaacactgccccgctccagccagagcagctccaagtgtttgagactctggaagagatcacaggttacctatacatctcagcatggccggacagcctgcctgacctcagcgtcttccagaacctgcaagtaatccggggacgaattctgcacaatggcgcctactcgctgaccctgcaagggctgggcatcagctggctggggctgcgctcactgagggaactgggcagtggactggccctcatccaccataacacccacctctgcttcgtgcacacggtgccctgggaccagctctttcggaacccgcaccaagctctgctccacactgccaaccggccagaggacgagtgtgtgggcgagggcctggcctgccaccagctgtgcgcccgagggcactgctggggtccagggcccacccagtgtgtcaactgcagccagttccttcggggccaggagtgcgtggaggaatgccgagtactgcaggggctccccagggagtatgtgaatgccaggcactgtttgccgtgccaccctgagtgtcagccccagaatggctcagtgacctgttttggaccggaggctgaccagtgtgtggcctgtgcccactataaggaccctcccttctgcgtggcccgctgccccagcggtgtgaaacctgacctctcctacatgcccatctggaagtttccagatgaggagggcgcatgccagccttgccccatcaactgcacccactcAATCTGAAGAAGAGCTGGCACCCGCAGACCCTCAGGAATGTGGAGAAAGTGTGGAAGGCCGAGCAGAAGCATGAGGCTGAGCGGAAGAAGATTGAGGAGCTTCAGCGGGAGCTGCGAGAAGAGAGAGCCCGGGAAGAGATGCAGCGCTATGCGGAGGATGTTGGGGCCGTCAAGAAAAAAGAAGAAAAGTTGGACTGGATGTACCAGGGTCCTGGTGGGATGGTGAACCGTGACGAGTACCTGCTGGGGCGCCCCATTGACAAATATGTTTTTGAGAAGATGGAGGAGAAGGAGGCAGGCTGCTCTTCTGAAACAGGACTTCTCCCAGGCTCTATCTTTGCCCCATCAGGTGCCAATTCCCTTCTTGACATGGCCAGCAAGATCCGGGAGGACCCACTCTTCATCATCAGGAAGAAGGAGGAGGAGAAAAAACGAGAGGTATTAAATAATCCAGTGAAAATGAAGAAAATCAAAGAATTGTTGCAAATGAGTCTGGAAAAAAAGGAGAAGAAGAAAAAGAAGGAGAAGAAAAAGAAGCACAAGAAACATAAGCACAGAAGCTCGAGTAGTGATCGTTCCAGCAGCGAGGATGAGCACAGTGCAGGGAGATCACAGAAGAAGATGGCAAATTCCTCCCCTGTTTTGTCCAAAGTCCCTGGATATGGCTTACAGGTCCGGAACTCTGACCGTAACCAGGGTCTTCAGGGTCCTCTGACAGCAGAGCAAAAGAGAGGGCATGGGATGAAGAACCATTCCAGATCCAGAAGCTCCTCCCACTCACCCCCAAGACATGCCAGCAAGAAGAGCACCAGGGAAGCAGGGTCCCGGGACAGGAGGTCTCGATCCCTGGGCAGAAGGTCACGGTCCCCAAGACCCAGCAAACTGCACAACTCTAAGGTGAACAGGAGAGAGACAGGCCAAACTAGGAGCCCATCACCTAAAAAAGAGGTCTACCAAAGGCGACATGCTCCCGGATACACCAGAAAACTCTCTGCAGAGGAATTAGAGCGAAAACGGCAAGAGATGATGGAAAACGCCAAATGGAGGGAGGAGGAGAGACTGAACATCCTCAAGAGGCATGCTAAGGATGAGGAACGGGAGCAGAGGCTAGAGAAGCTGGACTCCCGGGATGGGAAGTTCATCCACCGCATGAAGCTGGAGAGTGCATCTACTTCCTCCCTGGAGGATCGGGTGAAGCGGAATATCTACTCTTTACAGAGAACTTCGGTAGCTCTGGAGAAGAACTTTATGAAAAGATGA chr17|+|[0]39700239-39700311[0]|[1]39706990-39707141[2]|[0]39708321-39708534[0]|[1]39709318-39709452[0]|[1]39709813-39709881[0]|[1]39710086-39710201[2]|[0]39710340-39710481[0]|[1]39711928-39712047[0]|[1]39712322-39712448[1]|[2]39715286-39715359[0]|[1]39715446-39715536[1]|[2]39715740-39715939[0]|[1]39716301-39716433[1]|[2]39716515-39716605[2]|[0]39717320-39717480[1]<==>chr17|-|[2]38802092-38802206[2]|[1]38802700-38802861[2]|[1]38806297-38806395[2]|[1]38806765-38806976[0]|[2]38809702-38809765[2]|[1]38810468-38810595[0]|[2]38812795-38812864[2]|[1]38814861-38815097[2]|[1]38820901-38821073[0] MELAALCRWGLLLALLPPGAASTQVCTGTDMKLRLPASPETHLDMLRHLYQGCQVVQGNLELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGTQLFEDNYALAVLDNGDPLNNTTPVTGASPGGLRELQLRSLTEILKGGVLIQRNPQLCYQDTILWKDIFHKNNQLALTLIDTNRSRACHPCSPMCKGSRCWGESSEDCQSLTRTVCAGGCARCKGPLPTDCCHEQCAAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNPEGRYTFGASCVTACPYNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCYGLGMEHLREVRAVTSANIQEFAGCKKIFGSLAFLPESFDGDPASNTAPLQPEQLQVFETLEEITGYLYISAWPDSLPDLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGLALIHHNTHLCFVHTVPWDQLFRNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQECVEECRVLQGLPREYVNARHCLPCHPECQPQNGSVTCFGPEADQCVACAHYKDPPFCVARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSI*RRAGTRRPSGMWRKCGRPSRSMRLSGRRLRSFSGSCEKREPGKRCSAMRRMLGPSRKKKKSWTGCTRVLVGW*TVTSTCWGAPLTNMFLRRWRRRRQAALLKQDFSQALSLPHQVPIPFLTWPARSGRTHSSSSGRRRRRKNERY*IIQ*K*RKSKNCCK*VWKKRRRRKRRRRKRSTRNISTEARVVIVPAARMSTVQGDHRRRWQIPPLFCPKSLDMAYRSGTLTVTRVFRVL*QQSKREGMG*RTIPDPEAPPTHPQDMPARRAPGKQGPGTGGLDPWAEGHGPQDPANCTTLR*TGERQAKLGAHHLKKRSTKGDMLPDTPENSLQRN*SENGKR*WKTPNGGRRRD*TSSRGMLRMRNGSRG*RSWTPGMGSSSTA*SWRVHLLPPWRIG*SGISTLYRELR*LWRRTL*KD ERBB2--CWC25 121 LH00995:25:23T55JLT4:1:1101:34776:23406,LH00995:25:23T55JLT4:1:1165:12658:8609,LH00995:25:23T55JLT4:1:1189:9219:17815,LH00995:25:23T55JLT4:1:1210:37324:15293,LH00995:25:23T55JLT4:1:1226:48917:2695,LH00995:25:23T55JLT4:1:1266:40681:18361,LH00995:25:23T55JLT4:1:1268:35140:14396,LH00995:25:23T55JLT4:1:1268:36062:25157,LH00995:25:23T55JLT4:1:1280:23296:13863,LH00995:25:23T55JLT4:1:1301:9600:18641,LH00995:25:23T55JLT4:1:1304:5547:20589,LH00995:25:23T55JLT4:1:1358:6339:5848,LH00995:25:23T55JLT4:1:1368:12666:15433,LH00995:25:23T55JLT4:1:1370:45738:8342,LH00995:25:23T55JLT4:1:1405:26200:3676,LH00995:25:23T55JLT4:1:1424:12747:14844,LH00995:25:23T55JLT4:1:1448:3751:22971,LH00995:25:23T55JLT4:1:1462:50616:6507,LH00995:25:23T55JLT4:1:1471:4123:6241,LH00995:25:23T55JLT4:1:1476:22592:19847,LH00995:25:23T55JLT4:1:2110:28595:6058,LH00995:25:23T55JLT4:1:2148:27713:6745,LH00995:25:23T55JLT4:1:2167:16015:21206,LH00995:25:23T55JLT4:1:2170:9106:14676,LH00995:25:23T55JLT4:1:2188:31831:19174,LH00995:25:23T55JLT4:1:2202:40317:14340,LH00995:25:23T55JLT4:1:2209:8224:22817,LH00995:25:23T55JLT4:1:2212:5361:28898,LH00995:25:23T55JLT4:1:2271:45042:14200,LH00995:25:23T55JLT4:1:2274:12593:4181,LH00995:25:23T55JLT4:1:2382:3912:8342,LH00995:25:23T55JLT4:1:2382:6938:24737,LH00995:25:23T55JLT4:1:2455:20076:28772,LH00995:25:23T55JLT4:2:1132:38675:6451,LH00995:25:23T55JLT4:2:1162:15004:21612,LH00995:25:23T55JLT4:2:1210:33692:11075,LH00995:25:23T55JLT4:2:1228:43343:12210,LH00995:25:23T55JLT4:2:1257:26872:7109,LH00995:25:23T55JLT4:2:1265:43634:15489,LH00995:25:23T55JLT4:2:1303:4317:24316,LH00995:25:23T55JLT4:2:1329:52113:23252,LH00995:25:23T55JLT4:2:1363:43214:12098,LH00995:25:23T55JLT4:2:1370:46611:20673,LH00995:25:23T55JLT4:2:1375:45196:15559,LH00995:25:23T55JLT4:2:1375:47615:25746,LH00995:25:23T55JLT4:2:1413:5644:10024,LH00995:25:23T55JLT4:2:1424:23013:28086,LH00995:25:23T55JLT4:2:2128:25100:9477,LH00995:25:23T55JLT4:2:2138:12075:23546,LH00995:25:23T55JLT4:2:2217:18474:13387,LH00995:25:23T55JLT4:2:2218:6186:6283,LH00995:25:23T55JLT4:2:2283:44581:1322,LH00995:25:23T55JLT4:2:2294:3977:25914,LH00995:25:23T55JLT4:2:2307:14203:16189,LH00995:25:23T55JLT4:2:2319:15902:26951,LH00995:25:23T55JLT4:2:2338:48529:8020,LH00995:25:23T55JLT4:2:2350:43772:23938,LH00995:25:23T55JLT4:2:2358:6598:17983,LH00995:25:23T55JLT4:2:2362:35148:13513,LH00995:25:23T55JLT4:2:2382:33797:23223,LH00995:25:23T55JLT4:2:2401:12027:4657,LH00995:25:23T55JLT4:2:2452:51643:24877,LH00995:25:23T55JLT4:2:2464:24356:1350,LH00995:25:23T55JLT4:2:2465:5077:26727,LH00995:25:23T55JLT4:2:2480:44451:23490,LH00995:25:23T55JLT4:2:2491:2772:6199,LH00995:25:23T55JLT4:3:1184:38076:14073,LH00995:25:23T55JLT4:3:1186:5886:1953,LH00995:25:23T55JLT4:3:1253:21581:27091,LH00995:25:23T55JLT4:3:1261:46684:6002,LH00995:25:23T55JLT4:3:1285:31386:26250,LH00995:25:23T55JLT4:3:1306:36499:3887,LH00995:25:23T55JLT4:3:1442:33676:15559,LH00995:25:23T55JLT4:3:1487:4818:16946,LH00995:25:23T55JLT4:3:2375:30755:16666,LH00995:25:23T55JLT4:4:1104:43772:24415,LH00995:25:23T55JLT4:4:1107:29436:21976,LH00995:25:23T55JLT4:4:1140:34428:4867,LH00995:25:23T55JLT4:4:1161:37235:28898,LH00995:25:23T55JLT4:4:1245:50972:27385,LH00995:25:23T55JLT4:4:1265:44848:28464,LH00995:25:23T55JLT4:4:1341:50665:3032,LH00995:25:23T55JLT4:4:1352:31232:8132,LH00995:25:23T55JLT4:4:2190:44670:8455,LH00995:25:23T55JLT4:5:1104:8192:22341,LH00995:25:23T55JLT4:5:1162:22900:6955,LH00995:25:23T55JLT4:5:1174:28830:11817,LH00995:25:23T55JLT4:5:1244:36232:17941,LH00995:25:23T55JLT4:5:1283:14324:28002,LH00995:25:23T55JLT4:5:1320:50640:25886,LH00995:25:23T55JLT4:5:1425:3524:26054,LH00995:25:23T55JLT4:5:1435:32858:21234,LH00995:25:23T55JLT4:5:2145:25820:27679,LH00995:25:23T55JLT4:5:2365:27956:7221,LH00995:25:23T55JLT4:5:2369:18604:16385,LH00995:25:23T55JLT4:5:2392:41968:11986,LH00995:25:23T55JLT4:5:2412:49216:2373,LH00995:25:23T55JLT4:5:2419:40512:4475,LH00995:25:23T55JLT4:5:2473:35989:7768,LH00995:25:23T55JLT4:6:1132:28417:13289,LH00995:25:23T55JLT4:6:1277:33627:13345,LH00995:25:23T55JLT4:6:1304:5943:14606,LH00995:25:23T55JLT4:6:1339:32519:3466,LH00995:25:23T55JLT4:6:1444:2934:25564,LH00995:25:23T55JLT4:6:2135:23029:5386,LH00995:25:23T55JLT4:6:2194:40447:12210,LH00995:25:23T55JLT4:6:2272:48318:7095,LH00995:25:23T55JLT4:6:2428:25351:25129,LH00995:25:23T55JLT4:6:2439:17552:8567,LH00995:25:23T55JLT4:6:2476:34185:9351,LH00995:25:23T55JLT4:8:1141:18580:6815,LH00995:25:23T55JLT4:8:1322:30164:22032,LH00995:25:23T55JLT4:8:1358:13442:8959,LH00995:25:23T55JLT4:8:1381:47801:11243,LH00995:25:23T55JLT4:8:1389:43327:20113,LH00995:25:23T55JLT4:8:1428:50139:10304,LH00995:25:23T55JLT4:8:2112:19283:25914,LH00995:25:23T55JLT4:8:2262:17107:8889,LH00995:25:23T55JLT4:8:2428:43861:27315,LH00995:25:23T55JLT4:8:2430:21435:26867,LH00995:25:23T55JLT4:8:2496:15457:8861 YES_LDAS GT 1.6402 chr17:39717480:+ ERBB2^ENSG00000141736.14 Recep_L_domain|52-172|4.1e-36^Furin-like|190-343|2.1e-28^GF_recep_IV|195-280|1.3e-05^GF_recep_IV|307-356|0.014^Recep_L_domain|366-485|4.7e-22^Furin-like|496-562|7e-06^GF_recep_IV|511-642|1.2e-44^Furin-like|563-612|0.11^PK_Tyr_Ser-Thr|722-975|1.7e-89^Pkinase|722-974|5.1e-40^Kinase-like|804-919|0.00015^APH|822-869|1.5e-05 Cir_N-PARTIAL|~19-47|3.9e-19^CWC25|22-41|0.52^CWC25|66-157|1.3e-23^SPC25|128-186|0.00049^Cir_N|143-153|0.12^Cir_N|161-168|1.2^CWC25|172-215|1.5^Cir_N|173-185|3^CWC25|340-340|0.76^Cir_N|340-349|3^Cir_N|367-377|3 FRAMESHIFT AG 1.7968 chr17:38821073:- CWC25^ENSG00000273559.5 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr17:0.86Mb]""]" False chr17:39717480-chr17:38821073 121.0 0.0 121 1173_9C STAR-Fusion
fp_audit 1173_9C fusion ERBB2--HAP1 HAP1--ERBB2 ERBB2--HAP1 FP FP Arriba dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 HAP1 ERBB2 41731638 39693261 chr17:41731638-chr17:39693261 -,+ Arriba 1 0 6 6 PASS out-of-frame HAP1--ERBB2 ERBB2--HAP1 confidence:medium;duplicates(1) medium inversion CDS/splice-site 5'UTR/splice-site 381 13 1.0 0.0 0.0 0.0 4 2 False duplicates(1) FAIL False chr17:41731638 chr17:39693261 chr17:41731638-chr17:39693261 . . medium 381 13 upstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(6.0<8.0) duplicates(1) CCTGTGATGCCCCTAAGCT___GATTTCGCAGGAGGCATTGCTGCACCAGCACCACTGCCCACAGCTGGAAGCCTTGCAGGAGAAGCTGAGGCTGCTGGAGGAGGAGAATCATCAGCTGAGAGAAGAG|CCTACTCAATGTGAAGATGATGAGGATGAAAACCTTTGTGATGATCCACTTCCACTTAATGAATG___GTGGCAAAGCAAAGCTATATTCAAGACCACATGCAAAGCTACTCCCTGAGCAAAGAGTCACAGATAAAACGGGGGCACCAGTAGAATG HAP1 ERBB2 ENSG00000173805 ENSG00000141736 CDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREE|ptqceddedenlcddplplnewwqskaifkttckatp* LH00995:25:23T55JLT4:1:2464:29121:7614,LH00995:25:23T55JLT4:8:1162:15643:5064,LH00995:25:23T55JLT4:1:1249:20246:2555,LH00995:25:23T55JLT4:2:2396:6817:21080,LH00995:25:23T55JLT4:6:1280:1332:9730,LH00995:25:23T55JLT4:6:2259:43537:26082,LH00995:25:23T55JLT4:6:2259:43553:26082 out-of-frame HAP1_N-terminal_conserved_region(62%)|Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%) CDS/splice-site 5'UTR/splice-site 4 2 -/- +/+ . 6 ENST00000393939 ENST00000584601 inversion 0.01038961038961039 0.13333333333333333 0.07186147186147186 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--HAP1 HAP1--ERBB2 ERBB2--HAP1 FP FP Arriba dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 HAP1 ERBB2 41731493 39693261 chr17:41731493-chr17:39693261 -,+ Arriba 1 0 4 4 PASS out-of-frame HAP1--ERBB2 ERBB2--HAP1 confidence:medium;duplicates(2) medium inversion CDS/splice-site 5'UTR/splice-site 233 13 2.0 0.0 0.0 0.0 1 3 False duplicates(2) FAIL False chr17:41731493 chr17:39693261 chr17:41731493-chr17:39693261 . . medium 233 13 upstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(2) AGCTGGAAGCCTTGCAGGAGAAGCTGAGGCTGCTGGAGGAGGAGAATCATCAGCTGAGAGAAGAG___GCCTCTCAACTCGACACTCTTGAGGATGAGGAACAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTT|CCTACTCAATGTGAAGATGATGAGGATGAAAACCTTTGTGATGATCCACTTCCACTTAATGAATG___GTGGCAAAGCAAAGCTATATTCAAG HAP1 ERBB2 ENSG00000173805 ENSG00000141736 LEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQF|sysm* LH00995:25:23T55JLT4:1:1246:51441:14914,LH00995:25:23T55JLT4:1:1246:51457:14914,LH00995:25:23T55JLT4:3:2108:24849:17927,LH00995:25:23T55JLT4:6:2404:51020:5638,LH00995:25:23T55JLT4:2:2183:2125:18137,LH00995:25:23T55JLT4:8:2411:6712:6072 out-of-frame HAP1_N-terminal_conserved_region(68%)|Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%) CDS/splice-site 5'UTR/splice-site 1 3 -/- +/+ . 4 ENST00000393939 ENST00000584601 inversion 0.004273504273504274 0.1875 0.09588675213675214 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--JUP ERBB2--JUP ERBB2--JUP FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 JUP 39700311 41771862 chr17:39700311-chr17:41771862 +,- Arriba 1 0 201 201 PASS in-frame ERBB2--JUP ERBB2--JUP confidence:medium;duplicates(240),mismatches(1) medium inversion CDS/splice-site 5'UTR/splice-site 65535 22776 240.0 1.0 0.0 0.0 147 54 True duplicates(240),mismatches(1) FAIL False chr17:39700311 chr17:41771862 chr17:39700311-chr17:41771862 . . medium 65535 22776 downstream downstream 0 confidence_below_min(medium<high) duplicates(240),mismatches(1) AGCCGGAGCCATGGGGCCGGAGCCGCAGTGAGCACCATGGAGCTGGCGGCCTTGTGCCGCTGGGGGCTCCTCCTCGCCCTCTTGCCCCCCGGAGCCGCGAGCACCCAAG|TAGCCACGATGGAGGTGATGAACCTGATGGAGCAGCCTATCAAGGTGACTGAGTGGCAGCAGACATACACCTACGACTCGG ERBB2 JUP ENSG00000141736 ENSG00000173801 MELAALCRWGLLLALLPPGAASTQ|vatMEVMNLMEQPIKVTEWQQTYTYDS 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5:23T55JLT4:4:2295:42049:6829,LH00995:25:23T55JLT4:4:2322:30779:23630,LH00995:25:23T55JLT4:4:2322:46506:6507,LH00995:25:23T55JLT4:5:1105:6857:3550,LH00995:25:23T55JLT4:5:1154:44977:20421,LH00995:25:23T55JLT4:5:1167:10562:1701,LH00995:25:23T55JLT4:5:1180:43060:17016,LH00995:25:23T55JLT4:5:1226:9389:2415,LH00995:25:23T55JLT4:5:1228:35674:27707,LH00995:25:23T55JLT4:5:1250:36839:13611,LH00995:25:23T55JLT4:5:1311:3645:10010,LH00995:25:23T55JLT4:5:1354:13305:1098,LH00995:25:23T55JLT4:5:1392:29355:3228,LH00995:25:23T55JLT4:5:1411:13402:11523,LH00995:25:23T55JLT4:5:1445:24817:10837,LH00995:25:23T55JLT4:5:1474:46700:16400,LH00995:25:23T55JLT4:5:2117:19469:12560,LH00995:25:23T55JLT4:5:2145:4398:9267,LH00995:25:23T55JLT4:5:2174:31871:15489,LH00995:25:23T55JLT4:5:2175:19987:22145,LH00995:25:23T55JLT4:5:2247:28724:9702,LH00995:25:23T55JLT4:5:2267:45908:20323,LH00995:25:23T55JLT4:5:2341:51846:22873,LH00995:25:23T55JLT4:5:2441:10611:1252,LH00995:25:23T55JLT4:5:2441:24356:12168,LH00995:25:23T55JLT4:5:2481:5943:3816,LH00995:25:23T55JLT4:5:2495:48391:8342,LH00995:25:23T55JLT4:6:1139:48917:8384,LH00995:25:23T55JLT4:6:1159:23312:17983,LH00995:25:23T55JLT4:6:1212:36030:22607,LH00995:25:23T55JLT4:6:1294:32761:29389,LH00995:25:23T55JLT4:6:1311:52007:8048,LH00995:25:23T55JLT4:6:1404:51029:4615,LH00995:25:23T55JLT4:6:1488:48966:2724,LH00995:25:23T55JLT4:6:2113:27131:20925,LH00995:25:23T55JLT4:6:2226:31346:1518,LH00995:25:23T55JLT4:6:2289:7618:27315,LH00995:25:23T55JLT4:6:2314:1955:4923,LH00995:25:23T55JLT4:6:2316:16282:1294,LH00995:25:23T55JLT4:6:2326:29930:16329,LH00995:25:23T55JLT4:6:2346:49977:9884,LH00995:25:23T55JLT4:6:2403:9697:19566,LH00995:25:23T55JLT4:6:2436:9462:25830,LH00995:25:23T55JLT4:6:2453:42987:25101,LH00995:25:23T55JLT4:8:1166:51951:14844,LH00995:25:23T55JLT4:8:1188:33174:11495,LH00995:25:23T55JLT4:8:1215:8815:13695,LH00995:25:23T55JLT4:8:1241:43659:11019,LH00995:25:23T55JLT4:8:1260:14373:2724,LH00995:25:23T55JLT4:8:1260:33983:15587,LH00995:25:23T55JLT4:8:1264:23757:17829,LH00995:25:23T55JLT4:8:1392:22398:25788,LH00995:25:23T55JLT4:8:1403:11064:14592,LH00995:25:23T55JLT4:8:1406:7003:4559,LH00995:25:23T55JLT4:8:1408:7682:20393,LH00995:25:23T55JLT4:8:1410:16242:1532,LH00995:25:23T55JLT4:8:1410:32915:16091,LH00995:25:23T55JLT4:8:1466:7739:15082,LH00995:25:23T55JLT4:8:1483:31969:8763,LH00995:25:23T55JLT4:8:2174:3524:17338,LH00995:25:23T55JLT4:8:2191:2036:20449,LH00995:25:23T55JLT4:8:2472:41288:18684,LH00995:25:23T55JLT4:8:2477:34015:26965 in-frame |Armadillo/beta-catenin-like_repeat(100%) CDS/splice-site 5'UTR/splice-site 147 54 +/+ -/- . 201 ENST00000269571 ENST00000393931 inversion 0.002238056088426053 0.0023653088042049934 0.002301682446315523 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--JUP ERBB2--JUP ERBB2--JUP FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 JUP 39700311 41771859 chr17:39700311-chr17:41771859 +,- Arriba 1 0 17 17 PASS out-of-frame ERBB2--JUP ERBB2--JUP confidence:medium;duplicates(16) medium inversion CDS/splice-site 5'UTR/splice-site 65535 34421 16.0 0.0 0.0 0.0 10 7 False duplicates(16) FAIL False chr17:39700311 chr17:41771859 chr17:39700311-chr17:41771859 . . medium 65535 34421 downstream downstream 0 confidence_below_min(medium<high) duplicates(16) AGCCGCAGTGAGCACCATGGAGCTGGCGGCCTTGTGCCGCTGGGGGCTCCTCCTCGCCCTCTTGCCCCCCGGAGCCGCGAGCACCCAAG|CCACGATGGAGGTGATGAACCTGATGGAGCAGCCTATCAAGGTGACTGAGTGGCAGCAGACATACACCTACGACTCGGG ERBB2 JUP ENSG00000141736 ENSG00000173801 MELAALCRWGLLLALLPPGAASTQ|atmevmnlmeqpikvtewqqtytyds LH00995:25:23T55JLT4:1:1169:27026:3200,LH00995:25:23T55JLT4:1:2135:25100:1995,LH00995:25:23T55JLT4:1:2135:33344:19552,LH00995:25:23T55JLT4:2:1125:34323:26516,LH00995:25:23T55JLT4:2:2490:32511:14298,LH00995:25:23T55JLT4:3:1232:21921:2121,LH00995:25:23T55JLT4:3:1373:12941:22018,LH00995:25:23T55JLT4:3:1436:15594:17983,LH00995:25:23T55JLT4:3:2132:12140:3564,LH00995:25:23T55JLT4:3:2187:5352:20785,LH00995:25:23T55JLT4:3:2187:9033:23854,LH00995:25:23T55JLT4:4:1185:12229:18011,LH00995:25:23T55JLT4:4:1188:44484:9590,LH00995:25:23T55JLT4:4:1196:31952:28632,LH00995:25:23T55JLT4:4:2207:21104:5106,LH00995:25:23T55JLT4:5:2302:28247:11369,LH00995:25:23T55JLT4:6:1217:5458:26348,LH00995:25:23T55JLT4:6:2229:10603:27133,LH00995:25:23T55JLT4:8:2433:3306:25704,LH00995:25:23T55JLT4:1:1437:37963:16287,LH00995:25:23T55JLT4:1:2322:47129:2373,LH00995:25:23T55JLT4:1:2396:1582:20701,LH00995:25:23T55JLT4:1:2492:29719:17058,LH00995:25:23T55JLT4:2:1181:45900:28436,LH00995:25:23T55JLT4:2:2188:35374:6311,LH00995:25:23T55JLT4:3:1161:26831:13345,LH00995:25:23T55JLT4:4:1490:40965:17787,LH00995:25:23T55JLT4:4:2249:50058:28828,LH00995:25:23T55JLT4:5:1130:32260:17170,LH00995:25:23T55JLT4:8:1263:14826:3144,LH00995:25:23T55JLT4:8:2114:3864:28016,LH00995:25:23T55JLT4:8:2153:1785:18950,LH00995:25:23T55JLT4:8:2177:30391:18585 out-of-frame |Armadillo/beta-catenin-like_repeat(100%) CDS/splice-site 5'UTR/splice-site 10 7 +/+ -/- . 17 ENST00000269571 ENST00000589036 inversion 0.0001525669387443741 0.00020332287672824445 0.00017794490773630927 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--JUP ERBB2--JUP ERBB2--JUP FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 JUP 39715939 41755432 chr17:39715939-chr17:41755432 +,- Arriba 1 0 3 3 PASS out-of-frame ERBB2--JUP ERBB2--JUP confidence:low;duplicates(3) low inversion CDS/splice-site 3'UTR/splice-site 65535 2942 3.0 0.0 0.0 0.0 3 0 False duplicates(3) FAIL False chr17:39715939 chr17:41755432 chr17:39715939-chr17:41755432 . . low 65535 2942 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(3.0<8.0) duplicates(3) CCCACCTCTGCTTCGTGCACACGGTGCCCTGGGACCAGCTCTTTCGGAACCCGCACCAAGCTCTGCTCCACACTGCCAACCGGCCAGAGGACGAGTGTG|GTGCGGTTCCTCATCTGAGAGGCTCTCCGTGCAGGCGATGGG ERBB2 JUP ENSG00000141736 ENSG00000173801 HLCFVHTVPWDQLFRNPHQALLHTANRPEDEC|gavphlrgspcrrw LH00995:25:23T55JLT4:3:2217:32640:2583,LH00995:25:23T55JLT4:4:1179:11622:18417,LH00995:25:23T55JLT4:5:2243:33263:26895,LH00995:25:23T55JLT4:6:1487:45058:15461,LH00995:25:23T55JLT4:6:2205:3031:5610,LH00995:25:23T55JLT4:6:2245:45034:12336 out-of-frame Furin-like_cysteine_rich_region(100%),Receptor_L_domain(100%)| CDS/splice-site 3'UTR/splice-site 3 0 +/+ -/- . 3 ENST00000584601 ENST00000310706 inversion 4.577497024626934e-05 0.0 2.288748512313467e-05 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--JUP ERBB2--JUP ERBB2--JUP FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 JUP 39700311 41769677 chr17:39700311-chr17:41769677 +,- Arriba 1 0 2 2 PASS in-frame ERBB2--JUP ERBB2--JUP confidence:low;duplicates(2) low inversion CDS/splice-site CDS/splice-site 65535 30534 2.0 0.0 0.0 0.0 2 0 True duplicates(2) FAIL False chr17:39700311 chr17:41769677 chr17:39700311-chr17:41769677 . . low 65535 30534 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(2) GCCGCAGTGAGCACCATGGAGCTGGCGGCCTTGTGCCGCTGGGGGCTCCTCCTCGCCCTCTTGCCCCCCGGAGCCGCGAGCACCCAAG|GTGAcCTGGAGTACCAGATGTCCACAAC ERBB2 JUP ENSG00000141736 ENSG00000173801 MELAALCRWGLLLALLPPGAASTQ|gDLEYQMST LH00995:25:23T55JLT4:5:1261:27980:2611,LH00995:25:23T55JLT4:6:1123:31734:13093,LH00995:25:23T55JLT4:6:2215:3726:20323,LH00995:25:23T55JLT4:8:1282:23045:25900 in-frame |Armadillo/beta-catenin-like_repeat(100%) CDS/splice-site CDS/splice-site 2 0 +/+ -/- . 2 ENST00000269571 ENST00000393931 inversion 3.051711247081801e-05 0.0 1.5258556235409006e-05 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--JUP ERBB2--JUP ERBB2--JUP FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 JUP 39695181 41771862 chr17:39695181-chr17:41771862 +,- Arriba 1 0 1 1 PASS ERBB2--JUP ERBB2--JUP confidence:low low inversion 5'UTR/splice-site 5'UTR/splice-site 2216 22776 0 1 FAIL False chr17:39695181 chr17:41771862 chr17:39695181-chr17:41771862 . . low 2216 22776 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CTGCGCAGGCAGTGATGAGAGTGACATGTACTGTTGTGGACATGCACAAAAGTGAG|TAGCCACGATGGAGGTGATGAACCTGATGGAGCAGCCTATCAAGGTGACTGAGTGGCAGCAGA ERBB2 JUP ENSG00000141736 ENSG00000173801 . LH00995:25:23T55JLT4:4:2153:52177:24625 . |Armadillo/beta-catenin-like_repeat(100%) 5'UTR/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000584601 ENST00000393931 inversion 0.0 4.390393818325504e-05 2.195196909162752e-05 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--JUP ERBB2--JUP ERBB2--JUP FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 JUP 39700311 41772926 chr17:39700311-chr17:41772926 +,- Arriba 1 0 1 1 PASS out-of-frame ERBB2--JUP ERBB2--JUP confidence:low;duplicates(3) low inversion CDS/splice-site 5'UTR/splice-site 65535 77 3.0 0.0 0.0 0.0 0 1 False duplicates(3) FAIL False chr17:39700311 chr17:41772926 chr17:39700311-chr17:41772926 . . low 65535 77 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(3) CCTTGTGCCGCTGGGGGCTCCTCCTCGCCCTCTTGCCCCCCGGAGCCGCGAGCACCCAAG|CCTCTGACCTCTtCAGGTCAGTTCCCAGGACAGTGGAGCCAAACACAGACCAAGCGGGAAGTTCACCTCCCTGGTACAAAGTTCGGCCCTGCTACTCATTAACCTTCAG___TAGCCACGATGGAGGTGATGAACCTGATGGAGCAGCCTATCAAGGTGACTGAGTGG ERBB2 JUP ENSG00000141736 ENSG00000173801 LCRWGLLLALLPPGAASTQ|asdlfrsvprtvepntdqagssppwykvrpcysltfsshdggdepdgaayqgd* LH00995:25:23T55JLT4:1:2236:2578:29431,LH00995:25:23T55JLT4:3:2348:16144:2878,LH00995:25:23T55JLT4:6:2247:21532:7306,LH00995:25:23T55JLT4:6:2247:21541:7292 out-of-frame |Armadillo/beta-catenin-like_repeat(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000269571 ENST00000424457 inversion 0.0 0.01282051282051282 0.00641025641025641 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--JUP ERBB2--JUP ERBB2--JUP FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 JUP 39725853 41769677 chr17:39725853-chr17:41769677 +,- Arriba 1 0 1 1 PASS in-frame ERBB2--JUP ERBB2--JUP confidence:low;duplicates(3) low inversion CDS/splice-site CDS/splice-site 65535 30534 3.0 0.0 0.0 0.0 1 0 True duplicates(3) FAIL False chr17:39725853 chr17:41769677 chr17:39725853-chr17:41769677 . . low 65535 30534 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(3) GGTGTGACTGTGTGGGAGCTGATGACTTTTGGGGCCAAACCTTACGATGGGATCCCAGCCCGGGAGATCCCTGACCTGCTGGAAAAGGGGGAGCGGCTGCCCCAGCCCCCCATCTGCACCATTGATGTCTACATGATCATGGTCAAAT|GTGAcCTGGAGTACCAGATGTCCACAACAGCCAGGGCCAAACGGGTGCGGG ERBB2 JUP ENSG00000141736 ENSG00000173801 GVTVWELMTFGAKPYDGIPAREIPDLLEKGERLPQPPICTIDVYMIMVK|cDLEYQMSTTARAKRVR LH00995:25:23T55JLT4:4:2167:36280:25255,LH00995:25:23T55JLT4:6:1449:49265:3999,LH00995:25:23T55JLT4:8:1241:17277:21150,LH00995:25:23T55JLT4:8:1241:17285:21136 in-frame Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Protein_kinase_domain(93%),Receptor_L_domain(100%)|Armadillo/beta-catenin-like_repeat(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000584601 ENST00000393931 inversion 1.52587890625e-05 0.0 7.62939453125e-06 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--JUP ERBB2--JUP ERBB2--JUP FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 JUP 39700311 41771862 chr17:39700311-chr17:41771862 +,- STAR-Fusion 1 0 213 0.7239 213 PASS ERBB2--JUP ERBB2--JUP "[""DEEPEST2019"",""ChimerSeq"",""INTRACHROMOSOMAL[chr17:2.02Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.5301 False False False GT AG 213 ChimerSeq;DEEPEST2019 1 . . . . 0.7239 PASS . . . ERBB2--JUP 213 LH00995:25:23T55JLT4:1:1127:25043:5316,LH00995:25:23T55JLT4:1:1137:51287:20673,LH00995:25:23T55JLT4:1:1168:31265:25059,LH00995:25:23T55JLT4:1:1181:13693:26488,LH00995:25:23T55JLT4:1:1186:8410:26671,LH00995:25:23T55JLT4:1:1196:30472:10739,LH00995:25:23T55JLT4:1:1205:19647:11159,LH00995:25:23T55JLT4:1:1210:51255:1140,LH00995:25:23T55JLT4:1:1230:22366:25199,LH00995:25:23T55JLT4:1:1231:28296:2513,LH00995:25:23T55JLT4:1:1235:36912:24022,LH00995:25:23T55JLT4:1:1239:40948:7081,LH00995:25:23T55JLT4:1:1246:11104:5414,LH00995:25:23T55JLT4:1:1256:50810:26264,LH00995:25:23T55JLT4:1:1267:37753:27161,LH00995:25:23T55JLT4:1:1283:15360:20099,LH00995:25:23T55JLT4:1:1294:22714:14059,LH00995:25:23T55JLT4:1:1304:11873:6213,LH00995:25:23T55JLT4:1:1314:29048:18585,LH00995:25:23T55JLT4:1:1320:13006:10556,LH00995:25:23T55JLT4:1:1337:32931:21920,LH00995:25:23T55JLT4:1:1363:45455:17100,LH00995:25:23T55JLT4:1:1371:22341:19300,LH00995:25:23T55JLT4:1:1376:23134:5596,LH00995:25:23T55JLT4:1:1397:36539:5470,LH00995:25:23T55JLT4:1:1422:42388:19833,LH00995:25:23T55JLT4:1:1457:32737:26264,LH00995:25:23T55JLT4:1:1464:32381:24218,LH00995:25:23T55JLT4:1:1479:25990:19594,LH00995:25:23T55JLT4:1:1496:25246:2331,LH00995:25:23T55JLT4:1:2130:23134:13135,LH00995:25:23T55JLT4:1:2134:1704:26993,LH00995:25:23T55JLT4:1:2159:23150:2597,LH00995:25:23T55JLT4:1:2189:8127:15503,LH00995:25:23T55JLT4:1:2191:24267:6409,LH00995:25:23T55JLT4:1:2219:40714:12084,LH00995:25:23T55JLT4:1:2236:32664:25101,LH00995:25:23T55JLT4:1:2246:8370:2555,LH00995:25:23T55JLT4:1:2302:23612:1715,LH00995:25:23T55JLT4:1:2306:2367:2976,LH00995:25:23T55JLT4:1:2312:47137:13541,LH00995:25:23T55JLT4:1:2317:30019:11579,LH00995:25:23T55JLT4:1:2349:36353:12518,LH00995:25:23T55JLT4:1:2372:48165:7614,LH00995:25:23T55JLT4:1:2387:36531:14480,LH00995:25:23T55JLT4:1:2389:48852:5778,LH00995:25:23T55JLT4:1:2395:9964:12882,LH00995:25:23T55JLT4:1:2412:45074:11789,LH00995:25:23T55JLT4:1:2417:8694:28534,LH00995:25:23T55JLT4:1:2427:34582:16035,LH00995:25:23T55JLT4:1:2431:22964:24218,LH00995:25:23T55JLT4:1:2445:31839:6128,LH00995:25:23T55JLT4:1:2454:30723:8342,LH00995:25:23T55JLT4:1:2471:23919:7628,LH00995:25:23T55JLT4:1:2495:39711:1322,LH00995:25:23T55JLT4:1:2498:32049:3606,LH00995:25:23T55JLT4:2:1120:3573:11593,LH00995:25:23T55JLT4:2:1123:6291:2653,LH00995:25:23T55JLT4:2:1134:7917:28898,LH00995:25:23T55JLT4:2:1186:41199:24218,LH00995:25:23T55JLT4:2:1242:35140:24260,LH00995:25:23T55JLT4:2:1248:49111:11944,LH00995:25:23T55JLT4:2:1263:26572:18417,LH00995:25:23T55JLT4:2:1275:36321:27932,LH00995:25:23T55JLT4:2:1276:44403:7824,LH00995:25:23T55JLT4:2:1348:41410:7488,LH00995:25:23T55JLT4:2:1350:27236:1490,LH00995:25:23T55JLT4:2:1357:17973:29557,LH00995:25:23T55JLT4:2:1357:31338:10725,LH00995:25:23T55JLT4:2:1379:13475:26671,LH00995:25:23T55JLT4:2:1388:37267:1490,LH00995:25:23T55JLT4:2:1394:42202:25087,LH00995:25:23T55JLT4:2:1417:4285:25942,LH00995:25:23T55JLT4:2:1418:14874:22929,LH00995:25:23T55JLT4:2:1433:34468:24415,LH00995:25:23T55JLT4:2:1433:41466:25017,LH00995:25:23T55JLT4:2:1446:15263:27525,LH00995:25:23T55JLT4:2:1456:19356:6899,LH00995:25:23T55JLT4:2:1462:6825:11789,LH00995:25:23T55JLT4:2:1488:48585:12938,LH00995:25:23T55JLT4:2:2107:43602:10052,LH00995:25:23T55JLT4:2:2116:47598:12518,LH00995:25:23T55JLT4:2:2135:45519:4853,LH00995:25:23T55JLT4:2:2142:9349:24849,LH00995:25:23T55JLT4:2:2146:38335:19734,LH00995:25:23T55JLT4:2:2159:37276:2121,LH00995:25:23T55JLT4:2:2161:40876:27637,LH00995:25:23T55JLT4:2:2202:2982:15138,LH00995:25:23T55JLT4:2:2207:42340:22131,LH00995:25:23T55JLT4:2:2243:25917:19973,LH00995:25:23T55JLT4:2:2243:28279:6128,LH00995:25:23T55JLT4:2:2243:45107:16470,LH00995:25:23T55JLT4:2:2254:25116:20295,LH00995:25:23T55JLT4:2:2276:43028:2387,LH00995:25:23T55JLT4:2:2307:50616:19538,LH00995:25:23T55JLT4:2:2311:9236:14592,LH00995:25:23T55JLT4:2:2367:16420:26839,LH00995:25:23T55JLT4:2:2380:43901:15054,LH00995:25:23T55JLT4:2:2418:41677:20281,LH00995:25:23T55JLT4:2:2435:11388:27904,LH00995:25:23T55JLT4:2:2444:6760:14564,LH00995:25:23T55JLT4:3:1104:6922:28604,LH00995:25:23T55JLT4:3:1106:5361:21780,LH00995:25:23T55JLT4:3:1113:11355:9716,LH00995:25:23T55JLT4:3:1134:4600:6759,LH00995:25:23T55JLT4:3:1145:10384:28240,LH00995:25:23T55JLT4:3:1194:19664:21444,LH00995:25:23T55JLT4:3:1243:45883:5988,LH00995:25:23T55JLT4:3:1248:28959:27483,LH00995:25:23T55JLT4:3:1256:31515:6969,LH00995:25:23T55JLT4:3:1283:8936:29655,LH00995:25:23T55JLT4:3:1311:4050:17520,LH00995:25:23T55JLT4:3:1328:15206:19132,LH00995:25:23T55JLT4:3:1348:35488:8749,LH00995:25:23T55JLT4:3:1371:7205:26881,LH00995:25:23T55JLT4:3:1401:50082:22761,LH00995:25:23T55JLT4:3:1410:23668:25493,LH00995:25:23T55JLT4:3:1413:27883:6563,LH00995:25:23T55JLT4:3:1496:44063:14914,LH00995:25:23T55JLT4:3:2136:5498:13583,LH00995:25:23T55JLT4:3:2165:17010:7600,LH00995:25:23T55JLT4:3:2202:38198:26923,LH00995:25:23T55JLT4:3:2206:44637:10136,LH00995:25:23T55JLT4:3:2214:15780:1406,LH00995:25:23T55JLT4:3:2234:18183:1084,LH00995:25:23T55JLT4:3:2237:11007:26516,LH00995:25:23T55JLT4:3:2278:12973:16750,LH00995:25:23T55JLT4:3:2337:26314:17492,LH00995:25:23T55JLT4:3:2341:24437:10122,LH00995:25:23T55JLT4:3:2397:11201:6143,LH00995:25:23T55JLT4:3:2445:9939:14326,LH00995:25:23T55JLT4:3:2447:15716:6815,LH00995:25:23T55JLT4:3:2455:37947:2275,LH00995:25:23T55JLT4:3:2463:29008:3466,LH00995:25:23T55JLT4:3:2480:11735:17717,LH00995:25:23T55JLT4:3:2481:31289:1504,LH00995:25:23T55JLT4:3:2498:30520:3088,LH00995:25:23T55JLT4:4:1177:41070:19566,LH00995:25:23T55JLT4:4:1189:39832:29389,LH00995:25:23T55JLT4:4:1206:8904:5302,LH00995:25:23T55JLT4:4:1263:9195:20127,LH00995:25:23T55JLT4:4:1276:28304:17044,LH00995:25:23T55JLT4:4:1338:13806:16596,LH00995:25:23T55JLT4:4:1387:25586:25507,LH00995:25:23T55JLT4:4:1410:13758:20883,LH00995:25:23T55JLT4:4:1447:25165:21696,LH00995:25:23T55JLT4:4:2133:22317:2415,LH00995:25:23T55JLT4:4:2144:13054:11005,LH00995:25:23T55JLT4:4:2172:41830:8721,LH00995:25:23T55JLT4:4:2178:16411:3032,LH00995:25:23T55JLT4:4:2183:40868:3214,LH00995:25:23T55JLT4:4:2195:40083:15475,LH00995:25:23T55JLT4:4:2198:8184:22803,LH00995:25:23T55JLT4:4:2215:39824:21612,LH00995:25:23T55JLT4:4:2295:42049:6829,LH00995:25:23T55JLT4:4:2313:6695:15293,LH00995:25:23T55JLT4:4:2319:5708:19300,LH00995:25:23T55JLT4:4:2322:46506:6507,LH00995:25:23T55JLT4:4:2348:18021:29445,LH00995:25:23T55JLT4:5:1129:27438:8987,LH00995:25:23T55JLT4:5:1154:44977:20421,LH00995:25:23T55JLT4:5:1168:22261:1364,LH00995:25:23T55JLT4:5:1187:2011:11271,LH00995:25:23T55JLT4:5:1217:33409:4979,LH00995:25:23T55JLT4:5:1283:13976:28268,LH00995:25:23T55JLT4:5:1287:33902:14774,LH00995:25:23T55JLT4:5:1303:51732:24611,LH00995:25:23T55JLT4:5:1332:2893:11285,LH00995:25:23T55JLT4:5:1392:29355:3228,LH00995:25:23T55JLT4:5:1411:13402:11523,LH00995:25:23T55JLT4:5:2173:11857:3130,LH00995:25:23T55JLT4:5:2174:31871:15489,LH00995:25:23T55JLT4:5:2175:19987:22145,LH00995:25:23T55JLT4:5:2183:34800:10893,LH00995:25:23T55JLT4:5:2247:28724:9702,LH00995:25:23T55JLT4:5:2251:15093:1813,LH00995:25:23T55JLT4:5:2307:31378:25592,LH00995:25:23T55JLT4:5:2440:16339:23616,LH00995:25:23T55JLT4:5:2467:13451:5666,LH00995:25:23T55JLT4:5:2481:5943:3816,LH00995:25:23T55JLT4:5:2495:48391:8342,LH00995:25:23T55JLT4:6:1124:18733:26418,LH00995:25:23T55JLT4:6:1403:16072:15335,LH00995:25:23T55JLT4:6:1403:42526:24162,LH00995:25:23T55JLT4:6:2124:16606:25564,LH00995:25:23T55JLT4:6:2125:3476:15293,LH00995:25:23T55JLT4:6:2201:13370:4909,LH00995:25:23T55JLT4:6:2205:10037:8497,LH00995:25:23T55JLT4:6:2297:48901:15839,LH00995:25:23T55JLT4:6:2320:47914:14998,LH00995:25:23T55JLT4:6:2326:29930:16329,LH00995:25:23T55JLT4:6:2351:19785:27455,LH00995:25:23T55JLT4:6:2445:28474:16105,LH00995:25:23T55JLT4:8:1128:3573:29361,LH00995:25:23T55JLT4:8:1215:8815:13695,LH00995:25:23T55JLT4:8:1236:18458:10024,LH00995:25:23T55JLT4:8:1238:41830:26488,LH00995:25:23T55JLT4:8:1240:17609:24190,LH00995:25:23T55JLT4:8:1260:14373:2724,LH00995:25:23T55JLT4:8:1260:33983:15587,LH00995:25:23T55JLT4:8:1354:29978:27651,LH00995:25:23T55JLT4:8:1371:18984:20211,LH00995:25:23T55JLT4:8:1439:40932:5736,LH00995:25:23T55JLT4:8:1467:42647:25269,LH00995:25:23T55JLT4:8:2120:22293:27259,LH00995:25:23T55JLT4:8:2132:44217:28072,LH00995:25:23T55JLT4:8:2191:2036:20449,LH00995:25:23T55JLT4:8:2222:33360:26502,LH00995:25:23T55JLT4:8:2243:26540:7824,LH00995:25:23T55JLT4:8:2402:21832:2667,LH00995:25:23T55JLT4:8:2461:11986:3438,LH00995:25:23T55JLT4:8:2467:42995:20463,LH00995:25:23T55JLT4:8:2468:44726:20491 YES_LDAS GT 1.5301 chr17:39700311:+ ERBB2^ENSG00000141736.14 . . . AG 1.8892 chr17:41771862:- JUP^ENSG00000173801.17 0 . ONLY_REF_SPLICE "[""DEEPEST2019"",""ChimerSeq"",""INTRACHROMOSOMAL[chr17:2.02Mb]""]" False chr17:39700311-chr17:41771862 213.0 0.0 213 1173_9C STAR-Fusion
fp_audit 1173_9C fusion ERBB2--KRT42P ERBB2--KRT42P ERBB2--KRT42P FP FP Arriba dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 KRT42P 39700311 41635402 chr17:39700311-chr17:41635402 +,- Arriba 1 0 11 11 PASS out-of-frame ERBB2--KRT42P ERBB2--KRT42P confidence:medium;duplicates(13) medium inversion CDS/splice-site exon/splice-site 65535 15 13.0 0.0 0.0 0.0 5 6 False duplicates(13) FAIL False chr17:39700311 chr17:41635402 chr17:39700311-chr17:41635402 . . medium 65535 15 downstream downstream 0 confidence_below_min(medium<high) duplicates(13) CCAGCCGGGTCCAGCCGGAGCCATGGGGCCGGAGCCGCAGTGAGCACCATGGAGCTGGCGGCCTTGTGCCGCTGGGGGCTCCTCCTCGCCCTCTTGCCCCCCGGAGCCGCGAGCACCCAAG|GGGCCGTTCCTCGGGGCATGACGCTGGCTCCTGCACAGATCCTGCTCCTCTGTGGCCTTCCTGGGCTGCCCTCCCCTCCTCCGGGACTGCTCTGGACTGACATTGCTCAG___GCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACC ERBB2 KRT42P ENSG00000141736 ENSG00000214514 MELAALCRWGLLLALLPPGAASTQ|gavprgmtlapaqilllcglpglpspppgllwtdiaqagvqwcdlgslq LH00995:25:23T55JLT4:1:1117:41256:3186,LH00995:25:23T55JLT4:1:2483:37300:22733,LH00995:25:23T55JLT4:2:2151:2942:10921,LH00995:25:23T55JLT4:2:2249:15060:11005,LH00995:25:23T55JLT4:3:2334:6356:2569,LH00995:25:23T55JLT4:3:2363:8241:1406,LH00995:25:23T55JLT4:4:1358:4802:22999,LH00995:25:23T55JLT4:5:1232:21751:15531,LH00995:25:23T55JLT4:6:1413:12755:27497,LH00995:25:23T55JLT4:3:2118:44395:26923,LH00995:25:23T55JLT4:3:2214:10287:18880,LH00995:25:23T55JLT4:3:2258:7245:24765,LH00995:25:23T55JLT4:3:2258:7262:24765,LH00995:25:23T55JLT4:3:2422:40584:22649,LH00995:25:23T55JLT4:4:1474:15287:22663,LH00995:25:23T55JLT4:4:2120:10724:23896,LH00995:25:23T55JLT4:4:2272:10902:29109,LH00995:25:23T55JLT4:5:2266:11080:19692,LH00995:25:23T55JLT4:6:1274:18936:27693,LH00995:25:23T55JLT4:6:1415:23482:28366,LH00995:25:23T55JLT4:6:1415:23490:28352,LH00995:25:23T55JLT4:6:1478:39031:12420,LH00995:25:23T55JLT4:6:2166:2472:15012,LH00995:25:23T55JLT4:8:2477:38368:3368 out-of-frame . CDS/splice-site exon/splice-site 5 6 +/+ -/- . 11 ENST00000269571 ENST00000398469 inversion 7.628928898382667e-05 0.2857142857142857 0.14289528750163477 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--KRT42P ERBB2--KRT42P ERBB2--KRT42P FP FP Arriba dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 KRT42P 39716605 41630630 chr17:39716605-chr17:41630630 +,- Arriba 1 0 1 1 PASS out-of-frame ERBB2--KRT42P ERBB2--KRT42P confidence:low;duplicates(5) low inversion CDS/splice-site exon/splice-site 65535 6 5.0 0.0 0.0 0.0 0 1 False duplicates(5) FAIL False chr17:39716605 chr17:41630630 chr17:39716605-chr17:41630630 . . low 65535 6 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(5) GCCAGGCACTGTTTGCCGTGCCACCCTGAGTGTCAGCCCCAGAATGGCTCAGTGACCTGTTTTGGACCG|ATCCTGGTGGCTGTGGTCGGTAATTCCAGCTTCGTGCTGGtTACAGGTGGATGATGCCCACCTGGCTGCCGATGACCTCTGCACCAAGTGAGGCTGGGTCTCTGGAGCTGCCCCAGGGGCTGGACAAGCTGACCCTGGCCGGGGCCAACCTGGAGATGCAGATTGAGAACCTCAAGGAGGACCTGGTCTACCTGAAGAAGAAC ERBB2 KRT42P ENSG00000141736 ENSG00000214514 ARHCLPCHPECQPQNGSVTCFGP|ilvavvgnssfvlvtgg* LH00995:25:23T55JLT4:2:1149:19631:1434,LH00995:25:23T55JLT4:3:1315:26208:8286,LH00995:25:23T55JLT4:4:1248:51296:10010,LH00995:25:23T55JLT4:5:2357:26467:28716,LH00995:25:23T55JLT4:6:1319:5166:23097,LH00995:25:23T55JLT4:8:2147:48149:7474 out-of-frame Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(52%),Receptor_L_domain(100%)| CDS/splice-site exon/splice-site 0 1 +/+ -/- . 1 ENST00000584601 ENST00000398469 inversion 0.0 0.14285714285714285 0.07142857142857142 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--KRT42P ERBB2--KRT42P ERBB2--KRT42P FP FP Arriba dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 KRT42P 39700311 41648914 chr17:39700311-chr17:41648914 +,- Arriba 1 0 11 11 PASS out-of-frame ERBB2--KRT42P ERBB2--KRT42P confidence:medium;duplicates(9) medium inversion CDS/splice-site intergenic 65535 1 9.0 0.0 0.0 0.0 10 1 False duplicates(9) FAIL False chr17:39700311 chr17:41648914 chr17:39700311-chr17:41648914 . . medium 65535 1 downstream downstream 0 confidence_below_min(medium<high) duplicates(9) AGCCGGAGCCATGGGGCCGGAGCCGCAGTGAGCACCATGGAGCTGGCGGCCTTGTGCCGCTGGGGGCTCCTCCTCGCCCTCTTGCCCCCCGGAGCCGCGAGCACCCAAG|ATTTGAAGTCCTTCCCCCAGGCCCTGGACGGGGAAACTCAGGACTCCTCTCCGGGTAGAGTCTGGCAGCAGTCGGGCCAGAACAGCTCAGTGCTGCCCTCTGGGGGCGAGGCCGCGGCTT ERBB2 KRT42P(8715),AC130686.1(16652) ENSG00000141736 . MELAALCRWGLLLALLPPGAASTQ|dlksfpqaldgetqdsspgrvwqqsgqnssvlpsggeaaa LH00995:25:23T55JLT4:1:1407:7156:23434,LH00995:25:23T55JLT4:1:1455:19114:26404,LH00995:25:23T55JLT4:1:2197:22010:6815,LH00995:25:23T55JLT4:1:2239:39460:25185,LH00995:25:23T55JLT4:1:2322:45293:23462,LH00995:25:23T55JLT4:2:1266:15570:27273,LH00995:25:23T55JLT4:2:2460:51166:7292,LH00995:25:23T55JLT4:3:1205:2173:25311,LH00995:25:23T55JLT4:3:1272:45438:26068,LH00995:25:23T55JLT4:3:1366:49224:12056,LH00995:25:23T55JLT4:3:2301:8977:16946,LH00995:25:23T55JLT4:4:2181:35884:28828,LH00995:25:23T55JLT4:4:2365:15789:20421,LH00995:25:23T55JLT4:5:1209:24477:5568,LH00995:25:23T55JLT4:5:1213:13305:15166,LH00995:25:23T55JLT4:5:2243:4584:6086,LH00995:25:23T55JLT4:8:1370:17536:17703,LH00995:25:23T55JLT4:8:2119:38578:22761,LH00995:25:23T55JLT4:8:2464:17973:14704,LH00995:25:23T55JLT4:6:1414:39711:22369 out-of-frame . CDS/splice-site intergenic 10 1 +/+ ./- . 11 ENST00000269571 . inversion 0.0001525669387443741 0.5 0.25007628346937216 1173_9C Arriba
fp_audit 1173_9C fusion ERBB2--USP7 ERBB2--USP7 ERBB2--USP7 FP FP Arriba dev_rna_exp0016 1173_9C altera_exact 1173 clinical patient ovary Ovarian 51 unknown False 1173_9C_T1_RNA_SLD_01 tRNA altera_inhouse ssf 51.10 38.00 36.79 AIH_Ext13_RNA H05 False dev_rna_exp0016_lib_s56 200.00 80.97 dev_rna_exp0016 H07 False 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr16 ERBB2 USP7 39700311 9042615 chr17:39700311-chr16:9042615 +,+ Arriba 1 0 12 12 PASS out-of-frame ERBB2--USP7 ERBB2--USP7 confidence:medium;duplicates(15) medium translocation CDS/splice-site intergenic 65535 7 15.0 0.0 0.0 0.0 11 1 False duplicates(15) FAIL False chr17:39700311 chr16:9042615 chr17:39700311-chr16:9042615 . . medium 65535 7 downstream upstream 0 confidence_below_min(medium<high) duplicates(15) CCGGGTCCAGCCGGAGCCATGGGGCCGGAGCCGCAGTGAGCACCATGGAGCTGGCGGCCTTGTGCCGCTGGGGGCTCCTCCTCGCCCTCTTGCCCCCCGGAGCCGCGAGCACCCAAG|ATGCTTGGCCTTGAAACCCAGCCGCCATGCTGTGAGGAAGCCCAAGCCAGC ERBB2 USP7(67287),AC087190.2(25939) ENSG00000141736 . MELAALCRWGLLLALLPPGAASTQ|dawp* LH00995:25:23T55JLT4:4:1463:4406:17941,LH00995:25:23T55JLT4:8:1348:47526:6479,LH00995:25:23T55JLT4:1:1386:17932:1575,LH00995:25:23T55JLT4:1:1441:24162:28450,LH00995:25:23T55JLT4:1:2152:51732:5470,LH00995:25:23T55JLT4:1:2184:50114:7488,LH00995:25:23T55JLT4:1:2359:27001:20561,LH00995:25:23T55JLT4:2:1105:28708:16063,LH00995:25:23T55JLT4:2:1105:44379:17058,LH00995:25:23T55JLT4:2:1485:17851:23378,LH00995:25:23T55JLT4:2:2362:43845:22859,LH00995:25:23T55JLT4:3:1482:34040:9688,LH00995:25:23T55JLT4:3:2302:41814:10178,LH00995:25:23T55JLT4:4:1216:25132:20099,LH00995:25:23T55JLT4:4:1351:38036:17310,LH00995:25:23T55JLT4:5:1153:41102:7572,LH00995:25:23T55JLT4:5:1326:44152:1448,LH00995:25:23T55JLT4:5:1429:18976:12714,LH00995:25:23T55JLT4:5:1429:32648:7390,LH00995:25:23T55JLT4:5:1464:12172:2359,LH00995:25:23T55JLT4:5:2175:29970:21360,LH00995:25:23T55JLT4:5:2306:27373:26671,LH00995:25:23T55JLT4:6:1482:7626:20043,LH00995:25:23T55JLT4:6:2366:43149:10108,LH00995:25:23T55JLT4:8:1136:14745:22257,LH00995:25:23T55JLT4:8:2327:13863:9660,LH00995:25:23T55JLT4:8:2349:13645:3228 out-of-frame . CDS/splice-site intergenic 11 1 +/+ ./+ . 12 ENST00000269571 . translocation 0.0001678210722240869 0.125 0.06258391053611205 1173_9C Arriba
fp_audit 1173_BEE fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_BEE altera_exact 1173 clinical patient head and neck Head And Neck 60 unknown False 1173_BEE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 63.60 38.00 36.99 AIH_Ext13_RNA F05 False dev_rna_exp0016_lib_s54 200.00 68.70 dev_rna_exp0016 F07 False 1173_BEE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_BEE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(3) low inversion CDS/splice-site 5'UTR/splice-site 1156 384 3.0 0.0 0.0 0.0 0 1 False duplicates(3) FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . low 1156 384 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(3) AGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 TMKQr|lshh* LH00995:25:23T55JLT4:2:2431:12269:7824,LH00995:25:23T55JLT4:5:1147:9632:1042,LH00995:25:23T55JLT4:8:1116:15295:24078,LH00995:25:23T55JLT4:8:2324:20829:3732 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.0025974025974025974 0.0012987012987012987 1173_BEE Arriba
fp_audit 1173_BEE fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_BEE altera_exact 1173 clinical patient head and neck Head And Neck 60 unknown False 1173_BEE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 63.60 38.00 36.99 AIH_Ext13_RNA F05 False dev_rna_exp0016_lib_s54 200.00 68.70 dev_rna_exp0016 F07 False 1173_BEE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_BEE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243613671 243316755 chr1:243613671-chr1:243316755 -,+ Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 3084 913 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr1:243613671 chr1:243316755 chr1:243613671-chr1:243316755 . . low 3084 913 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) TTAAAGAACACTAGACATCCCTTTTTAACA___TCCTTGAAATATTCCTTCCAGACAAAAGACCGTTTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAG|AGAAAGAGATGACTTGATGTCTGC AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 LKNTRHPFLTSLKYSFQTKDRLCFVMEYVNGGE|rkr* LH00995:25:23T55JLT4:2:2256:35471:6451,LH00995:25:23T55JLT4:7:1130:33368:21976 out-of-frame PH_domain(100%),Protein_kinase_domain(32%)|Centrosomal_colon_cancer_autoantigen_protein_family(56%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000366541 inversion 0.00032414910858995135 0.0 0.00016207455429497568 1173_BEE Arriba
fp_audit 1173_BEE fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_BEE altera_exact 1173 clinical patient head and neck Head And Neck 60 unknown False 1173_BEE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 63.60 38.00 36.99 AIH_Ext13_RNA F05 False dev_rna_exp0016_lib_s54 200.00 68.70 dev_rna_exp0016 F07 False 1173_BEE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_BEE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243573048 chr1:243426558-chr1:243573048 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 1156 2861 1 0 False FAIL False chr1:243426558 chr1:243573048 chr1:243426558-chr1:243573048 . . low 1156 2861 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 EQCVQHGRVHETMKQs|cfsicresgcslr LH00995:25:23T55JLT4:7:1478:32405:11958 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(67%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.000864304235090752 0.0 0.000432152117545376 1173_BEE Arriba
fp_audit 1173_CH0 fusion ABL1--PRR16 PRR16--ABL1 ABL1--PRR16 FP FP Arriba dev_rna_exp0016 1173_CH0 altera_exact 1173 clinical patient head and neck Head And Neck 42 unknown False 1173_CH0_T1_RNA_SLD_01 tRNA altera_inhouse ssf 19.20 38.00 30.8 AIH_Ext13_RNA B03 False dev_rna_exp0016_lib_s93 100.00 39.78 dev_rna_exp0016 E12 False 1173_CH0_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CH0_T1_RNA_SLD_01_A23T55JLT4_2 BND chr5 chr9 PRR16 ABL1 120686847 130883969 chr5:120686847-chr9:130883969 +,+ Arriba 1 0 3 3 PASS PRR16--ABL1 ABL1--PRR16 confidence:medium;duplicates(6) medium translocation 3'UTR CDS/splice-site 0 5380 6.0 0.0 0.0 0.0 0 3 duplicates(6) FAIL False chr5:120686847 chr9:130883969 chr5:120686847-chr9:130883969 . . medium 0 5380 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(6) TTCTACTCAAGCAATAAAAAGCCCAAATATATTAATCCTGCATTCAGCAAAGTGGCATAAAAATCACCTG|ATCCTCTGGACCATGAGCCTGCCGTGTCTCCATTGCTCCCTCGAAAAGAGCGAGGTCCCCCGGAGGGCGGCCTGAATGAAGATGAGCGCCTTCTCCCCAAAGACAAAAAGACCAACTTGTTCAGCGCCTTGATCAAGAAGAAGAAGAAGACAGC PRR16 ABL1 ENSG00000184838 ENSG00000097007 . LH00995:25:23T55JLT4:1:1155:40552:17689,LH00995:25:23T55JLT4:1:2179:47348:20547,LH00995:25:23T55JLT4:1:2356:23547:22761,LH00995:25:23T55JLT4:3:1477:5474:10458,LH00995:25:23T55JLT4:3:1477:5482:10472,LH00995:25:23T55JLT4:4:1124:32737:28170,LH00995:25:23T55JLT4:4:1251:4204:11817,LH00995:25:23T55JLT4:7:2324:8354:24443,LH00995:25:23T55JLT4:8:1345:28700:26586 . Domain_of_unknown_function_(DUF4589)(100%)|F-actin_binding(100%) 3'UTR CDS/splice-site 0 3 +/+ +/+ . 3 ENST00000407149 ENST00000372348 translocation 0.0005573100501579045 1173_CH0 Arriba
fp_audit 1173_CH0 fusion ABL1--PRR16 PRR16--ABL1 ABL1--PRR16 FP FP Arriba dev_rna_exp0016 1173_CH0 altera_exact 1173 clinical patient head and neck Head And Neck 42 unknown False 1173_CH0_T1_RNA_SLD_01 tRNA altera_inhouse ssf 19.20 38.00 30.8 AIH_Ext13_RNA B03 False dev_rna_exp0016_lib_s93 100.00 39.78 dev_rna_exp0016 E12 False 1173_CH0_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CH0_T1_RNA_SLD_01_A23T55JLT4_2 BND chr5 chr9 PRR16 ABL1 120686847 130883969 chr5:120686847-chr9:130883969 +,+ Arriba 1 0 3 3 PASS PRR16--ABL1 ABL1--PRR16 confidence:medium;duplicates(6) medium translocation 3'UTR CDS/splice-site 0 5380 6.0 0.0 0.0 0.0 0 3 duplicates(6) FAIL False chr5:120686847 chr9:130883969 chr5:120686847-chr9:130883969 . . medium 0 5380 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(6) TTCTACTCAAGCAATAAAAAGCCCAAATATATTAATCCTGCATTCAGCAAAGTGGCATAAAAATCACCTG|ATCCTCTGGACCATGAGCCTGCCGTGTCTCCATTGCTCCCTCGAAAAGAGCGAGGTCCCCCGGAGGGCGGCCTGAATGAAGATGAGCGCCTTCTCCCCAAAGACAAAAAGACCAACTTGTTCAGCGCCTTGATCAAGAAGAAGAAGAAGACAGC PRR16 ABL1 ENSG00000184838 ENSG00000097007 . LH00995:25:23T55JLT4:1:1155:40552:17689,LH00995:25:23T55JLT4:1:2179:47348:20547,LH00995:25:23T55JLT4:1:2356:23547:22761,LH00995:25:23T55JLT4:3:1477:5474:10458,LH00995:25:23T55JLT4:3:1477:5482:10472,LH00995:25:23T55JLT4:4:1124:32737:28170,LH00995:25:23T55JLT4:4:1251:4204:11817,LH00995:25:23T55JLT4:7:2324:8354:24443,LH00995:25:23T55JLT4:8:1345:28700:26586 . Domain_of_unknown_function_(DUF4589)(100%)|F-actin_binding(100%) 3'UTR CDS/splice-site 0 3 +/+ +/+ . 3 ENST00000407149 ENST00000372348 translocation 0.0005573100501579045 1173_CH0 Arriba
fp_audit 1173_CI9 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CI9 altera_exact 1173 clinical patient skin Skin 58 unknown False 1173_CI9_T1_RNA_SLD_01 tRNA altera_inhouse ssf 48.10 38.00 33.84 AIH_Ext13_RNA E04 False dev_rna_exp0016_lib_s45 200.00 65.97 dev_rna_exp0016 E06 False 1173_CI9_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CI9_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243256240 243664883 chr1:243256240-chr1:243664883 +,- Arriba 1 0 1 1 PASS in-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 488 10864 1.0 0.0 0.0 0.0 1 0 True duplicates(1) FAIL False chr1:243256240 chr1:243664883 chr1:243256240-chr1:243664883 . . low 488 10864 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GCCGCGGCAGGAAGCAGGCGGGCGCTCCCCGGCCACAGGCCTGTTGTTCTCGGAAGGGAGAAAGCTGGACATTTCCCCACGTAACTCCCAGCTCTGGGCCTAGAGTGCGTGCATGGtGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|AATGCCAGTTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACTACTGTTATAGAGAGAACATTTCATGTAGAT SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MvKSPENSTLEEILGQYQRSLR|eCQLMKTERPKPNTFIIRCLQWTTVIERTFHV LH00995:25:23T55JLT4:1:2192:49589:26951,LH00995:25:23T55JLT4:7:1413:51077:6773 in-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.002044989775051125 0.0 0.0010224948875255625 1173_CI9 Arriba
fp_audit 1173_CI9 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CI9 altera_exact 1173 clinical patient skin Skin 58 unknown False 1173_CI9_T1_RNA_SLD_01 tRNA altera_inhouse ssf 48.10 38.00 33.84 AIH_Ext13_RNA E04 False dev_rna_exp0016_lib_s45 200.00 65.97 dev_rna_exp0016 E06 False 1173_CI9_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CI9_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243695591 243341039 chr1:243695591-chr1:243341039 -,+ Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 7582 242 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr1:243695591 chr1:243341039 chr1:243695591-chr1:243341039 . . low 7582 242 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) CTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA|ATGTTGATCTTGTCTCAGAATATTG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 LLKTDGSFIGYKEKPQDVDLPYPLNNFSVA|nvdlvsey LH00995:25:23T55JLT4:1:1341:31904:27063,LH00995:25:23T55JLT4:3:2104:24744:12616 out-of-frame PH_domain(51%)|Centrosomal_colon_cancer_autoantigen_protein_family(42%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000366541 inversion 0.00013187392852433074 0.0 6.593696426216537e-05 1173_CI9 Arriba
fp_audit 1173_CI9 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CI9 altera_exact 1173 clinical patient skin Skin 58 unknown False 1173_CI9_T1_RNA_SLD_01 tRNA altera_inhouse ssf 48.10 38.00 33.84 AIH_Ext13_RNA E04 False dev_rna_exp0016_lib_s45 200.00 65.97 dev_rna_exp0016 E06 False 1173_CI9_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CI9_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243344331 243695716 chr1:243344331-chr1:243695716 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(3) low inversion CDS/splice-site CDS/splice-site 180 5642 3.0 0.0 0.0 0.0 0 1 False duplicates(3) FAIL False chr1:243344331 chr1:243695716 chr1:243344331-chr1:243695716 . . low 180 5642 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(3) GGGATCTTGAAATTAAAGATCAG|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 DLEIKDQ|eni* LH00995:25:23T55JLT4:3:2175:51247:9057,LH00995:25:23T55JLT4:4:1324:32130:23364,LH00995:25:23T55JLT4:8:1427:46013:21234,LH00995:25:23T55JLT4:8:1427:50826:17184 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(69%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.000177210703526493 8.86053517632465e-05 1173_CI9 Arriba
fp_audit 1173_CI9 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CI9 altera_exact 1173 clinical patient skin Skin 58 unknown False 1173_CI9_T1_RNA_SLD_01 tRNA altera_inhouse ssf 48.10 38.00 33.84 AIH_Ext13_RNA E04 False dev_rna_exp0016_lib_s45 200.00 65.97 dev_rna_exp0016 E06 False 1173_CI9_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CI9_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243552943 chr1:243426558-chr1:243552943 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 347 5841 0 1 False FAIL False chr1:243426558 chr1:243552943 chr1:243426558-chr1:243552943 . . low 347 5841 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . AGACGATGAAGCAAAG|GTGTTAGAAGATAATGACTATGGCCGAGCAGTAGACTGGTGGGGCCTAGGGGTTGTCATGTATGAAATGATGTGTGGGAGGTTACCTTTCTACAACC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 TMKQr|c* LH00995:25:23T55JLT4:6:2230:7788:20883 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(34%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.00017117425539198904 8.558712769599452e-05 1173_CI9 Arriba
fp_audit 1173_CRL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CRL altera_exact 1173 clinical patient ovary Ovarian 45 unknown False 1173_CRL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.50 35.00 55.24 AIH_Ext12_RNA C01 False dev_rna_exp0016_lib_s03 200.00 89.12 dev_rna_exp0016 C01 False 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 2 2 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(3) low inversion CDS/splice-site 5'UTR/splice-site 1800 530 3.0 0.0 0.0 0.0 0 2 False duplicates(3) FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . low 1800 530 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(3) ACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGG___GAGAATATATAAAAAACTGGAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 STLEEILGQYQRSLR|g* LH00995:25:23T55JLT4:2:1190:2901:6927,LH00995:25:23T55JLT4:2:1462:42000:16161,LH00995:25:23T55JLT4:2:1462:42008:16175,LH00995:25:23T55JLT4:5:1398:21185:5470,LH00995:25:23T55JLT4:5:2339:42235:23013 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 2 +/+ -/- . 2 ENST00000366541 ENST00000673466 inversion 0.0 0.0037593984962406013 0.0018796992481203006 1173_CRL Arriba
fp_audit 1173_CRL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CRL altera_exact 1173 clinical patient ovary Ovarian 45 unknown False 1173_CRL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.50 35.00 55.24 AIH_Ext12_RNA C01 False dev_rna_exp0016_lib_s03 200.00 89.12 dev_rna_exp0016 C01 False 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 1600 530 1 0 False FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . low 1600 530 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 GKLQRRNEELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:5:2259:19413:4111 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0006246096189881324 0.0 0.0003123048094940662 1173_CRL Arriba
fp_audit 1173_CRL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CRL altera_exact 1173 clinical patient ovary Ovarian 45 unknown False 1173_CRL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.50 35.00 55.24 AIH_Ext12_RNA C01 False dev_rna_exp0016_lib_s03 200.00 89.12 dev_rna_exp0016 C01 False 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243256240 243637742 chr1:243256240-chr1:243637742 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(2) low inversion CDS/splice-site CDS/splice-site 1800 1569 2.0 0.0 0.0 0.0 0 1 False duplicates(2) FAIL False chr1:243256240 chr1:243637742 chr1:243256240-chr1:243637742 . . low 1800 1569 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) GGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|ACAATGAATGATTTTGACTATTTGAAACTACTAGGTAAAGGCACTTTTGGGAAAGTTATTTTGGTTCGAGAGAAGGCAAGTGGAAAATACTATGCTATGAAGATTCTGAAGAAAGAAGTCATTATTGCAAAGG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 AKSPENSTLEEILGQYQRSLR|dne* LH00995:25:23T55JLT4:1:1145:17067:24597,LH00995:25:23T55JLT4:1:1145:17075:24611,LH00995:25:23T55JLT4:3:2119:6525:3144 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.0006369426751592356 0.0003184713375796178 1173_CRL Arriba
fp_audit 1173_CRL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CRL altera_exact 1173 clinical patient ovary Ovarian 45 unknown False 1173_CRL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.50 35.00 55.24 AIH_Ext12_RNA C01 False dev_rna_exp0016_lib_s03 200.00 89.12 dev_rna_exp0016 C01 False 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243695716 chr1:243426558-chr1:243695716 +,- Arriba 1 0 0 0 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;mismappers(1) low inversion CDS/splice-site CDS/splice-site 1600 2938 0.0 0.0 1.0 0.0 0 0 False mismappers(1) FAIL False chr1:243426558 chr1:243695716 chr1:243426558-chr1:243695716 . . low 1600 2938 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(0.0<8.0) mismappers(1) CAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GAGAATATATAAAAAAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 QLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|riykk LH00995:25:23T55JLT4:8:1444:42696:16890 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 0 +/+ -/- . 0 ENST00000366541 ENST00000336199 inversion 0.0 0.0 0.0 1173_CRL Arriba
fp_audit 1173_CRL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CRL altera_exact 1173 clinical patient ovary Ovarian 45 unknown False 1173_CRL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.50 35.00 55.24 AIH_Ext12_RNA C01 False dev_rna_exp0016_lib_s03 200.00 89.12 dev_rna_exp0016 C01 False 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 2 2 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(3) low inversion CDS/splice-site 5'UTR/splice-site 1800 530 3.0 0.0 0.0 0.0 0 2 False duplicates(3) FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . low 1800 530 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(3) ACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGG___GAGAATATATAAAAAACTGGAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 STLEEILGQYQRSLR|g* LH00995:25:23T55JLT4:2:1190:2901:6927,LH00995:25:23T55JLT4:2:1462:42000:16161,LH00995:25:23T55JLT4:2:1462:42008:16175,LH00995:25:23T55JLT4:5:1398:21185:5470,LH00995:25:23T55JLT4:5:2339:42235:23013 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 2 +/+ -/- . 2 ENST00000366541 ENST00000673466 inversion 0.0 0.0037593984962406013 0.0018796992481203006 1173_CRL Arriba
fp_audit 1173_CRL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CRL altera_exact 1173 clinical patient ovary Ovarian 45 unknown False 1173_CRL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.50 35.00 55.24 AIH_Ext12_RNA C01 False dev_rna_exp0016_lib_s03 200.00 89.12 dev_rna_exp0016 C01 False 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 1600 530 1 0 False FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . low 1600 530 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 GKLQRRNEELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:5:2259:19413:4111 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0006246096189881324 0.0 0.0003123048094940662 1173_CRL Arriba
fp_audit 1173_CRL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CRL altera_exact 1173 clinical patient ovary Ovarian 45 unknown False 1173_CRL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.50 35.00 55.24 AIH_Ext12_RNA C01 False dev_rna_exp0016_lib_s03 200.00 89.12 dev_rna_exp0016 C01 False 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243256240 243637742 chr1:243256240-chr1:243637742 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(2) low inversion CDS/splice-site CDS/splice-site 1800 1569 2.0 0.0 0.0 0.0 0 1 False duplicates(2) FAIL False chr1:243256240 chr1:243637742 chr1:243256240-chr1:243637742 . . low 1800 1569 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) GGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|ACAATGAATGATTTTGACTATTTGAAACTACTAGGTAAAGGCACTTTTGGGAAAGTTATTTTGGTTCGAGAGAAGGCAAGTGGAAAATACTATGCTATGAAGATTCTGAAGAAAGAAGTCATTATTGCAAAGG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 AKSPENSTLEEILGQYQRSLR|dne* LH00995:25:23T55JLT4:1:1145:17067:24597,LH00995:25:23T55JLT4:1:1145:17075:24611,LH00995:25:23T55JLT4:3:2119:6525:3144 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.0006369426751592356 0.0003184713375796178 1173_CRL Arriba
fp_audit 1173_CRL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_CRL altera_exact 1173 clinical patient ovary Ovarian 45 unknown False 1173_CRL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.50 35.00 55.24 AIH_Ext12_RNA C01 False dev_rna_exp0016_lib_s03 200.00 89.12 dev_rna_exp0016 C01 False 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243695716 chr1:243426558-chr1:243695716 +,- Arriba 1 0 0 0 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;mismappers(1) low inversion CDS/splice-site CDS/splice-site 1600 2938 0.0 0.0 1.0 0.0 0 0 False mismappers(1) FAIL False chr1:243426558 chr1:243695716 chr1:243426558-chr1:243695716 . . low 1600 2938 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(0.0<8.0) mismappers(1) CAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GAGAATATATAAAAAAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 QLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|riykk LH00995:25:23T55JLT4:8:1444:42696:16890 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 0 +/+ -/- . 0 ENST00000366541 ENST00000336199 inversion 0.0 0.0 0.0 1173_CRL Arriba
fp_audit 1173_CRX fusion EPCAM--MSH2 EPCAM--MSH2 EPCAM--MSH2 FP FP Arriba dev_rna_exp0016 1173_CRX altera_exact 1173 clinical patient crc Colorectal 69 unknown False 1173_CRX_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 43.7 AIH_Ext13_RNA B02 False dev_rna_exp0016_lib_s85 100.00 54.48 dev_rna_exp0016 E11 False 1173_CRX_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRX_T1_RNA_SLD_01_A23T55JLT4_2 BND chr2 chr2 EPCAM MSH2 47375299 47463031 chr2:47375299-chr2:47463031 +,+ Arriba 1 0 7 7 PASS out-of-frame EPCAM--MSH2 EPCAM--MSH2 confidence:low;duplicates(1) low deletion/read-through CDS/splice-site CDS/splice-site 11520 308 1.0 0.0 0.0 0.0 4 3 False duplicates(1) FAIL False chr2:47375299 chr2:47463031 chr2:47375299-chr2:47463031 . . low 11520 308 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(7.0<8.0) duplicates(1) AGGACACTGAAATAACCTGCTCTGAGCGAGTGAGAACCTA___CTGGATCATCATTGAACTAAAACACAAAGCAAGAGAAAAACCTTATGATAGTAAAAGTTTGCGGAC|GTGGAAAACCATGAATTCCTTGTAAAACCTTCATTTGATCCTAATCTCAGTGAATTAAGAGAAATAATGAATGACTTGGAAAAGAAGATGCAGTCAACATTAATAAGTGCAGCCAGAGATCTTG___GC EPCAM MSH2 ENSG00000119888 ENSG00000095002 DTEITCSERVRTYWIIIELKHKAREKPYDSKSLRt|wktmnsl* LH00995:25:23T55JLT4:3:1392:6776:8342,LH00995:25:23T55JLT4:5:1260:48424:22046,LH00995:25:23T55JLT4:5:1350:3443:1785,LH00995:25:23T55JLT4:6:2470:11525:27974,LH00995:25:23T55JLT4:4:1250:9462:13863,LH00995:25:23T55JLT4:5:1386:37486:8679,LH00995:25:23T55JLT4:8:1337:45859:6002,LH00995:25:23T55JLT4:8:2270:49839:6927 out-of-frame Epithelial_cell_adhesion_molecule_N-terminal_domain(100%),Thyroglobulin_type-1_repeat(100%)|MutS_domain_III(58%),MutS_domain_V(100%),MutS_family_domain_IV(100%) CDS/splice-site CDS/splice-site 4 3 +/+ +/+ . 7 ENST00000456133 ENST00000644092 deletion/read-through 0.0003471017007983339 0.00964630225080386 0.004996701975801096 1173_CRX Arriba
fp_audit 1173_CRX fusion EPCAM--MSH2 EPCAM--MSH2 EPCAM--MSH2 FP FP Arriba dev_rna_exp0016 1173_CRX altera_exact 1173 clinical patient crc Colorectal 69 unknown False 1173_CRX_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 43.7 AIH_Ext13_RNA B02 False dev_rna_exp0016_lib_s85 100.00 54.48 dev_rna_exp0016 E11 False 1173_CRX_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRX_T1_RNA_SLD_01_A23T55JLT4_2 BND chr2 chr2 EPCAM MSH2 47374048 47463031 chr2:47374048-chr2:47463031 +,+ Arriba 1 0 1 1 PASS stop-codon EPCAM--MSH2 EPCAM--MSH2 confidence:low low deletion/read-through CDS/splice-site CDS/splice-site 15178 308 1 0 FAIL False chr2:47374048 chr2:47463031 chr2:47374048-chr2:47463031 . . low 15178 308 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CCTCtATGTGCTGGTGTGTGAACACTGCTGGGGTCAGAAGAACAGACAAGGACACTGAAATAACCTGCTCTGAGCGAGTGAGAACCTA|GTGGAAAACCATGAATTCCTTGTAAAACCTTCATTTGATCCTAATCTCAGTGAATTAAGA EPCAM MSH2 ENSG00000119888 ENSG00000095002 . LH00995:25:23T55JLT4:2:2323:30383:27399 stop-codon Epithelial_cell_adhesion_molecule_N-terminal_domain(100%),Thyroglobulin_type-1_repeat(100%)|MutS_domain_III(58%),MutS_domain_V(100%),MutS_family_domain_IV(100%) CDS/splice-site CDS/splice-site 1 0 +/+ +/+ . 1 ENST00000456133 ENST00000644092 deletion/read-through 6.588049278608604e-05 0.0 3.294024639304302e-05 1173_CRX Arriba
fp_audit 1173_CRX fusion EPCAM--MSH2 EPCAM--MSH2 EPCAM--MSH2 FP FP Arriba dev_rna_exp0016 1173_CRX altera_exact 1173 clinical patient crc Colorectal 69 unknown False 1173_CRX_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 43.7 AIH_Ext13_RNA B02 False dev_rna_exp0016_lib_s85 100.00 54.48 dev_rna_exp0016 E11 False 1173_CRX_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRX_T1_RNA_SLD_01_A23T55JLT4_2 BND chr2 chr2 EPCAM MSH2 47375299 47463031 chr2:47375299-chr2:47463031 +,+ Arriba 1 0 7 7 PASS out-of-frame EPCAM--MSH2 EPCAM--MSH2 confidence:low;duplicates(1) low deletion/read-through CDS/splice-site CDS/splice-site 11520 308 1.0 0.0 0.0 0.0 4 3 False duplicates(1) FAIL False chr2:47375299 chr2:47463031 chr2:47375299-chr2:47463031 . . low 11520 308 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(7.0<8.0) duplicates(1) AGGACACTGAAATAACCTGCTCTGAGCGAGTGAGAACCTA___CTGGATCATCATTGAACTAAAACACAAAGCAAGAGAAAAACCTTATGATAGTAAAAGTTTGCGGAC|GTGGAAAACCATGAATTCCTTGTAAAACCTTCATTTGATCCTAATCTCAGTGAATTAAGAGAAATAATGAATGACTTGGAAAAGAAGATGCAGTCAACATTAATAAGTGCAGCCAGAGATCTTG___GC EPCAM MSH2 ENSG00000119888 ENSG00000095002 DTEITCSERVRTYWIIIELKHKAREKPYDSKSLRt|wktmnsl* LH00995:25:23T55JLT4:3:1392:6776:8342,LH00995:25:23T55JLT4:5:1260:48424:22046,LH00995:25:23T55JLT4:5:1350:3443:1785,LH00995:25:23T55JLT4:6:2470:11525:27974,LH00995:25:23T55JLT4:4:1250:9462:13863,LH00995:25:23T55JLT4:5:1386:37486:8679,LH00995:25:23T55JLT4:8:1337:45859:6002,LH00995:25:23T55JLT4:8:2270:49839:6927 out-of-frame Epithelial_cell_adhesion_molecule_N-terminal_domain(100%),Thyroglobulin_type-1_repeat(100%)|MutS_domain_III(58%),MutS_domain_V(100%),MutS_family_domain_IV(100%) CDS/splice-site CDS/splice-site 4 3 +/+ +/+ . 7 ENST00000456133 ENST00000644092 deletion/read-through 0.0003471017007983339 0.00964630225080386 0.004996701975801096 1173_CRX Arriba
fp_audit 1173_CRX fusion EPCAM--MSH2 EPCAM--MSH2 EPCAM--MSH2 FP FP Arriba dev_rna_exp0016 1173_CRX altera_exact 1173 clinical patient crc Colorectal 69 unknown False 1173_CRX_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 43.7 AIH_Ext13_RNA B02 False dev_rna_exp0016_lib_s85 100.00 54.48 dev_rna_exp0016 E11 False 1173_CRX_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_CRX_T1_RNA_SLD_01_A23T55JLT4_2 BND chr2 chr2 EPCAM MSH2 47374048 47463031 chr2:47374048-chr2:47463031 +,+ Arriba 1 0 1 1 PASS stop-codon EPCAM--MSH2 EPCAM--MSH2 confidence:low low deletion/read-through CDS/splice-site CDS/splice-site 15178 308 1 0 FAIL False chr2:47374048 chr2:47463031 chr2:47374048-chr2:47463031 . . low 15178 308 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CCTCtATGTGCTGGTGTGTGAACACTGCTGGGGTCAGAAGAACAGACAAGGACACTGAAATAACCTGCTCTGAGCGAGTGAGAACCTA|GTGGAAAACCATGAATTCCTTGTAAAACCTTCATTTGATCCTAATCTCAGTGAATTAAGA EPCAM MSH2 ENSG00000119888 ENSG00000095002 . LH00995:25:23T55JLT4:2:2323:30383:27399 stop-codon Epithelial_cell_adhesion_molecule_N-terminal_domain(100%),Thyroglobulin_type-1_repeat(100%)|MutS_domain_III(58%),MutS_domain_V(100%),MutS_family_domain_IV(100%) CDS/splice-site CDS/splice-site 1 0 +/+ +/+ . 1 ENST00000456133 ENST00000644092 deletion/read-through 6.588049278608604e-05 0.0 3.294024639304302e-05 1173_CRX Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 401 485 0 1 False FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . low 401 485 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GCGTGCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCAT SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MAKSPENSTLEEILGQYQRSLR|g* LH00995:25:23T55JLT4:8:2320:4293:4769 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.00205761316872428 0.00102880658436214 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243286397 243695716 chr1:243286397-chr1:243695716 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 598 3897 0 1 False FAIL False chr1:243286397 chr1:243695716 chr1:243286397-chr1:243695716 . . low 598 3897 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CAAGTAGTTGTGCTTGAAAACGAAGGGCTCCAGCAACAGCTAAAATCTCAAAGACAAGAGGAGACACTGAGGGAACAAACACTTCTGGATGCATCC|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 QVVVLENEGLQQQLKSQRQEETLREQTLLDAS|eni* LH00995:25:23T55JLT4:5:1344:14802:23111 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(25%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.0002565418163160595 0.00012827090815802975 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243843125 243489014 chr1:243843125-chr1:243489014 -,+ Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 4696 269 1 0 False FAIL False chr1:243843125 chr1:243489014 chr1:243843125-chr1:243489014 . . low 4696 269 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGG|GCTAAGGCAGCTGGATAAGCACAGCCAGGC AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 MSDVTIVKEGWVQKR|g* LH00995:25:23T55JLT4:8:2434:18418:23322 out-of-frame PH_domain(9%)|Centrosomal_colon_cancer_autoantigen_protein_family(6%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000673466 ENST00000366541 inversion 0.00021290185224611454 0.0 0.00010645092612305727 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243613671 243378721 chr1:243613671-chr1:243378721 -,+ Arriba 1 0 1 1 PASS in-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 5286 494 1 0 True FAIL False chr1:243613671 chr1:243378721 chr1:243613671-chr1:243378721 . . low 5286 494 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GGCACACACTCTAACTGAAAGCAGAGTATTAAAGAACACTAGACATCCCTTTTTAACA___TCCTTGAAATATTCCTTCCAGACAAAAGACCGTTTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAG|GAAATAGAGAAATTGAGAATAGAACTGGATGAAAGCAAA AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 AHTLTESRVLKNTRHPFLTSLKYSFQTKDRLCFVMEYVNGGE|EIEKLRIELDES LH00995:25:23T55JLT4:2:1310:41992:21136 in-frame PH_domain(100%),Protein_kinase_domain(32%)|Centrosomal_colon_cancer_autoantigen_protein_family(30%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000366541 inversion 0.00018914318138831096 0.0 9.457159069415548e-05 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243563720 243426427 chr1:243563720-chr1:243426427 -,+ Arriba 1 0 0 0 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;mismatches(1) low inversion CDS/splice-site CDS/splice-site 4107 412 0.0 1.0 0.0 0.0 0 0 False mismatches(1) FAIL False chr1:243563720 chr1:243426427 chr1:243563720-chr1:243426427 . . low 4107 412 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(0.0<8.0) mismatches(1) ATTTTGGACTTTGCAAAGAAGGGATCACAGATGCAGCCACCATGAAGACATTCTGTGGCACTCCAGAATATCTGGCACCAGAG|ATCTGAAATAGCTCAACTCAG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 FGLCKEGITDAATMKTFCGTPEYLAPE|i* LH00995:25:23T55JLT4:6:1464:35229:29375 out-of-frame PH_domain(100%),Protein_kinase_domain(65%)|Centrosomal_colon_cancer_autoantigen_protein_family(12%) CDS/splice-site CDS/splice-site 0 0 -/- +/+ . 0 ENST00000336199 ENST00000366541 inversion 0.0 0.0 0.0 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 AKT3 SDCCAG8 243695591 243270092 chr1:243695591-chr1:243270092 -,+ Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site exon/splice-site 4746 815 1 0 False FAIL False chr1:243695591 chr1:243270092 chr1:243695591-chr1:243270092 . . low 4746 815 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA|GTTGTTCTTGCAGAACATGCCAG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 KTDGSFIGYKEKPQDVDLPYPLNNFSVA|scscrtc LH00995:25:23T55JLT4:8:2484:20675:13303 out-of-frame PH_domain(51%)|Centrosomal_colon_cancer_autoantigen_protein_family(97%) CDS/splice-site exon/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000490065 inversion 0.0002106593638087213 0.0 0.00010532968190436065 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 407 637 0 1 False FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . low 407 637 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . TACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 TYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:8:2382:38295:3634 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.001567398119122257 0.0007836990595611285 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243256240 243615161 chr1:243256240-chr1:243615161 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 545 4613 0 1 False FAIL False chr1:243256240 chr1:243615161 chr1:243256240-chr1:243615161 . . low 545 4613 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GCGTGCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GATGAAGTGGCACACACTCTAACTGAAAGCAGAGTATTAAAGAACACTAGACATCCCTTTTTAACA___TCCTTGAAATATTCCTTCCAGACAAAAGACCGTTTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAG___CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MAKSPENSTLEEILGQYQRSLR|g* LH00995:25:23T55JLT4:8:1416:15020:4573 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(85%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.00021673168617251842 0.00010836584308625921 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243256240 243563848 chr1:243256240-chr1:243563848 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 545 4973 1.0 0.0 0.0 0.0 0 1 False duplicates(1) FAIL False chr1:243256240 chr1:243563848 chr1:243256240-chr1:243563848 . . low 545 4973 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|TTGGAGAATCTAATGCTGGACAAAGATGGCCACATAAAAATTACAGATTTTGGACTTTGCAAAGAAGGGAcCACAGATGCAGC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MAKSPENSTLEEILGQYQRSLR|vgesnagqrwphknyrfwtlqrrdhrc LH00995:25:23T55JLT4:5:2397:29008:14872,LH00995:25:23T55JLT4:8:1243:9859:4013 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(51%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.0002010454362685967 0.00010052271813429835 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243286397 243573048 chr1:243286397-chr1:243573048 +,- Arriba 1 0 1 1 PASS in-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 575 5060 0 1 True FAIL False chr1:243286397 chr1:243573048 chr1:243286397-chr1:243573048 . . low 575 5060 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CACTTCTGGATGCATCC|CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGACTATCTACATTCCGGAAAGATTGTGTACCGTGATCTCAAG___TTGGAGAATCTAATGCTGGAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 LLDAS|LFFHLSRERVFSEDRTRFYGAEIVSALDYLHSGKIVYRDLKLENLML LH00995:25:23T55JLT4:6:2398:43861:18992 in-frame Centrosomal_colon_cancer_autoantigen_protein_family(25%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(67%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.00019758940920766647 9.879470460383324e-05 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 AKT3 SDCCAG8 243695591 243270092 chr1:243695591-chr1:243270092 -,+ Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site exon/splice-site 4746 815 1 0 False FAIL False chr1:243695591 chr1:243270092 chr1:243695591-chr1:243270092 . . low 4746 815 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA|GTTGTTCTTGCAGAACATGCCAG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 KTDGSFIGYKEKPQDVDLPYPLNNFSVA|scscrtc LH00995:25:23T55JLT4:8:2484:20675:13303 out-of-frame PH_domain(51%)|Centrosomal_colon_cancer_autoantigen_protein_family(97%) CDS/splice-site exon/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000490065 inversion 0.0002106593638087213 0.0 0.00010532968190436065 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 407 637 0 1 False FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . low 407 637 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . TACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 TYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:8:2382:38295:3634 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.001567398119122257 0.0007836990595611285 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243256240 243615161 chr1:243256240-chr1:243615161 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 545 4613 0 1 False FAIL False chr1:243256240 chr1:243615161 chr1:243256240-chr1:243615161 . . low 545 4613 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GCGTGCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GATGAAGTGGCACACACTCTAACTGAAAGCAGAGTATTAAAGAACACTAGACATCCCTTTTTAACA___TCCTTGAAATATTCCTTCCAGACAAAAGACCGTTTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAG___CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MAKSPENSTLEEILGQYQRSLR|g* LH00995:25:23T55JLT4:8:1416:15020:4573 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(85%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.00021673168617251842 0.00010836584308625921 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243256240 243563848 chr1:243256240-chr1:243563848 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 545 4973 1.0 0.0 0.0 0.0 0 1 False duplicates(1) FAIL False chr1:243256240 chr1:243563848 chr1:243256240-chr1:243563848 . . low 545 4973 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|TTGGAGAATCTAATGCTGGACAAAGATGGCCACATAAAAATTACAGATTTTGGACTTTGCAAAGAAGGGAcCACAGATGCAGC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MAKSPENSTLEEILGQYQRSLR|vgesnagqrwphknyrfwtlqrrdhrc LH00995:25:23T55JLT4:5:2397:29008:14872,LH00995:25:23T55JLT4:8:1243:9859:4013 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(51%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.0002010454362685967 0.00010052271813429835 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243286397 243573048 chr1:243286397-chr1:243573048 +,- Arriba 1 0 1 1 PASS in-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 575 5060 0 1 True FAIL False chr1:243286397 chr1:243573048 chr1:243286397-chr1:243573048 . . low 575 5060 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CACTTCTGGATGCATCC|CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGACTATCTACATTCCGGAAAGATTGTGTACCGTGATCTCAAG___TTGGAGAATCTAATGCTGGAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 LLDAS|LFFHLSRERVFSEDRTRFYGAEIVSALDYLHSGKIVYRDLKLENLML LH00995:25:23T55JLT4:6:2398:43861:18992 in-frame Centrosomal_colon_cancer_autoantigen_protein_family(25%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(67%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.00019758940920766647 9.879470460383324e-05 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 401 485 0 1 False FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . low 401 485 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GCGTGCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCAT SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MAKSPENSTLEEILGQYQRSLR|g* LH00995:25:23T55JLT4:8:2320:4293:4769 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.00205761316872428 0.00102880658436214 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243286397 243695716 chr1:243286397-chr1:243695716 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 598 3897 0 1 False FAIL False chr1:243286397 chr1:243695716 chr1:243286397-chr1:243695716 . . low 598 3897 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CAAGTAGTTGTGCTTGAAAACGAAGGGCTCCAGCAACAGCTAAAATCTCAAAGACAAGAGGAGACACTGAGGGAACAAACACTTCTGGATGCATCC|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 QVVVLENEGLQQQLKSQRQEETLREQTLLDAS|eni* LH00995:25:23T55JLT4:5:1344:14802:23111 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(25%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.0002565418163160595 0.00012827090815802975 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243843125 243489014 chr1:243843125-chr1:243489014 -,+ Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 4696 269 1 0 False FAIL False chr1:243843125 chr1:243489014 chr1:243843125-chr1:243489014 . . low 4696 269 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGG|GCTAAGGCAGCTGGATAAGCACAGCCAGGC AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 MSDVTIVKEGWVQKR|g* LH00995:25:23T55JLT4:8:2434:18418:23322 out-of-frame PH_domain(9%)|Centrosomal_colon_cancer_autoantigen_protein_family(6%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000673466 ENST00000366541 inversion 0.00021290185224611454 0.0 0.00010645092612305727 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243613671 243378721 chr1:243613671-chr1:243378721 -,+ Arriba 1 0 1 1 PASS in-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 5286 494 1 0 True FAIL False chr1:243613671 chr1:243378721 chr1:243613671-chr1:243378721 . . low 5286 494 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GGCACACACTCTAACTGAAAGCAGAGTATTAAAGAACACTAGACATCCCTTTTTAACA___TCCTTGAAATATTCCTTCCAGACAAAAGACCGTTTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAG|GAAATAGAGAAATTGAGAATAGAACTGGATGAAAGCAAA AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 AHTLTESRVLKNTRHPFLTSLKYSFQTKDRLCFVMEYVNGGE|EIEKLRIELDES LH00995:25:23T55JLT4:2:1310:41992:21136 in-frame PH_domain(100%),Protein_kinase_domain(32%)|Centrosomal_colon_cancer_autoantigen_protein_family(30%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000366541 inversion 0.00018914318138831096 0.0 9.457159069415548e-05 1173_D6K Arriba
fp_audit 1173_D6K fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243563720 243426427 chr1:243563720-chr1:243426427 -,+ Arriba 1 0 0 0 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;mismatches(1) low inversion CDS/splice-site CDS/splice-site 4107 412 0.0 1.0 0.0 0.0 0 0 False mismatches(1) FAIL False chr1:243563720 chr1:243426427 chr1:243563720-chr1:243426427 . . low 4107 412 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(0.0<8.0) mismatches(1) ATTTTGGACTTTGCAAAGAAGGGATCACAGATGCAGCCACCATGAAGACATTCTGTGGCACTCCAGAATATCTGGCACCAGAG|ATCTGAAATAGCTCAACTCAG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 FGLCKEGITDAATMKTFCGTPEYLAPE|i* LH00995:25:23T55JLT4:6:1464:35229:29375 out-of-frame PH_domain(100%),Protein_kinase_domain(65%)|Centrosomal_colon_cancer_autoantigen_protein_family(12%) CDS/splice-site CDS/splice-site 0 0 -/- +/+ . 0 ENST00000336199 ENST00000366541 inversion 0.0 0.0 0.0 1173_D6K Arriba
fp_audit 1173_D6K fusion ROS1--U6 U6--ROS1 ROS1--U6 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr4 chr6 U6 ROS1 13154421 117418506 chr4:13154421-chr6:117418506 -,- Arriba 1 0 4 4 PASS U6--ROS1 ROS1--U6 confidence:medium;duplicates(1) medium translocation intergenic CDS/splice-site 0 3699 1.0 0.0 0.0 0.0 0 4 duplicates(1) FAIL False chr4:13154421 chr6:117418506 chr4:13154421-chr6:117418506 . . medium 0 3699 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(1) CTTGgTCCTCCTTGCCTTCTGCCATGATTGTGAGGTCTCCCCAGCCACGTGGAACT|GGCCAGCAGCTTGACCTTGGCACACCACATAATCTGAGTGAACCG___TGTATCCAAGGATGTCACTTTTGGAACTCTGTAGATCAGAAAAACTGTGCTTTAAAGTGT___AATGATACTTATGCCACCGTTTGTGAG___CGGGAGTCGTGTGAGGTTGGgTGTAGCAGCGCGGAAGGTGCATATGAAGAGGAAGTACTGG U6(103010),HSP90AB2P(178993) ROS1 . ENSG00000047936 . LH00995:25:23T55JLT4:6:1156:11509:27862,LH00995:25:23T55JLT4:6:2152:11752:29627,LH00995:25:23T55JLT4:8:1388:43772:22453,LH00995:25:23T55JLT4:8:1471:38950:19370,LH00995:25:23T55JLT4:8:2144:29218:24288 . |Fibronectin_type_III_domain(100%),Protein_kinase_domain(100%) intergenic CDS/splice-site 0 4 ./- -/- . 4 . ENST00000368507 translocation 0.001080205238995409 1173_D6K Arriba
fp_audit 1173_D6K fusion ROS1--U6 U6--ROS1 ROS1--U6 FP FP Arriba dev_rna_exp0016 1173_D6K altera_exact 1173 clinical patient sarcoma Sarcoma 74 unknown False 1173_D6K_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 38.00 70.35 AIH_Ext13_RNA A01 False dev_rna_exp0016_lib_s17 200.00 87.71 dev_rna_exp0016 A03 False 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_D6K_T1_RNA_SLD_01_A23T55JLT4_1 BND chr4 chr6 U6 ROS1 13154421 117418506 chr4:13154421-chr6:117418506 -,- Arriba 1 0 4 4 PASS U6--ROS1 ROS1--U6 confidence:medium;duplicates(1) medium translocation intergenic CDS/splice-site 0 3699 1.0 0.0 0.0 0.0 0 4 duplicates(1) FAIL False chr4:13154421 chr6:117418506 chr4:13154421-chr6:117418506 . . medium 0 3699 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(1) CTTGgTCCTCCTTGCCTTCTGCCATGATTGTGAGGTCTCCCCAGCCACGTGGAACT|GGCCAGCAGCTTGACCTTGGCACACCACATAATCTGAGTGAACCG___TGTATCCAAGGATGTCACTTTTGGAACTCTGTAGATCAGAAAAACTGTGCTTTAAAGTGT___AATGATACTTATGCCACCGTTTGTGAG___CGGGAGTCGTGTGAGGTTGGgTGTAGCAGCGCGGAAGGTGCATATGAAGAGGAAGTACTGG U6(103010),HSP90AB2P(178993) ROS1 . ENSG00000047936 . LH00995:25:23T55JLT4:6:1156:11509:27862,LH00995:25:23T55JLT4:6:2152:11752:29627,LH00995:25:23T55JLT4:8:1388:43772:22453,LH00995:25:23T55JLT4:8:1471:38950:19370,LH00995:25:23T55JLT4:8:2144:29218:24288 . |Fibronectin_type_III_domain(100%),Protein_kinase_domain(100%) intergenic CDS/splice-site 0 4 ./- -/- . 4 . ENST00000368507 translocation 0.001080205238995409 1173_D6K Arriba
fp_audit 1173_FM fusion PDGFRB--ZNF701 PDGFRB--ZNF701 PDGFRB--ZNF701 FP FP Arriba dev_rna_exp0016 1173_FM altera_exact 1173 clinical patient crc Colorectal 77 unknown False 1173_FM_T1_RNA_SLD_01 tRNA altera_inhouse ssf 130.00 38.00 52.77 AIH_Ext13_RNA C02 False dev_rna_exp0016_lib_s27 200.00 37.21 dev_rna_exp0016 C04 False 1173_FM_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_FM_T1_RNA_SLD_01_A23T55JLT4_2 BND chr5 chr19 PDGFRB ZNF701 150119522 52561499 chr5:150119522-chr19:52561499 -,+ Arriba 1 0 4 4 PASS out-of-frame PDGFRB--ZNF701 PDGFRB--ZNF701 confidence:low;duplicates(7) low translocation CDS intron 15680 2 7.0 0.0 0.0 0.0 4 0 False duplicates(7) FAIL False chr5:150119522 chr19:52561499 chr5:150119522-chr19:52561499 . . low 15680 2 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(4.0<8.0) duplicates(7) TTCAACAGCCTCTACACCACCCTGAGCGACGTGTGGTCCTTCGGGATCCTGCTCTGGGAGATCTTCACCTTGG___GTGGCACCCCTTACCCAGAGCTGCCCATGAACGAGCAGTTCTACA|CACACTGGCCTGCTGTACTTATTTGAGAAATAATGTTAATTTGCCTCCAGATTTTTTTTTTTTTTTGAGACGGA PDGFRB ZNF701 ENSG00000113721 ENSG00000167562 FNSLYTTLSDVWSFGILLWEIFTLGGTPYPELPMNEQFY|thwpavli* LH00995:25:23T55JLT4:1:2113:44476:12490,LH00995:25:23T55JLT4:2:2433:20020:14914,LH00995:25:23T55JLT4:3:1136:46975:23294,LH00995:25:23T55JLT4:4:1308:20610:2653,LH00995:25:23T55JLT4:4:1308:20618:2667,LH00995:25:23T55JLT4:5:2141:24081:4321,LH00995:25:23T55JLT4:5:2273:37243:18684,LH00995:25:23T55JLT4:5:2490:47938:19945,LH00995:25:23T55JLT4:8:1427:6833:11299,LH00995:25:23T55JLT4:8:1444:31338:8230,LH00995:25:23T55JLT4:8:2276:37826:9463 out-of-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Protein_kinase_domain(88%)|KRAB_box(100%),Zinc_finger__C2H2_type(78%) CDS intron 4 0 -/- +/+ . 4 ENST00000261799 . translocation 0.0002550369803621525 0.0 0.00012751849018107625 1173_FM Arriba
fp_audit 1173_FM fusion PDGFRB--ZNF701 PDGFRB--ZNF701 PDGFRB--ZNF701 FP FP Arriba dev_rna_exp0016 1173_FM altera_exact 1173 clinical patient crc Colorectal 77 unknown False 1173_FM_T1_RNA_SLD_01 tRNA altera_inhouse ssf 130.00 38.00 52.77 AIH_Ext13_RNA C02 False dev_rna_exp0016_lib_s27 200.00 37.21 dev_rna_exp0016 C04 False 1173_FM_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_FM_T1_RNA_SLD_01_A23T55JLT4_2 BND chr5 chr19 PDGFRB ZNF701 150119522 52561499 chr5:150119522-chr19:52561499 -,+ Arriba 1 0 4 4 PASS out-of-frame PDGFRB--ZNF701 PDGFRB--ZNF701 confidence:low;duplicates(7) low translocation CDS intron 15680 2 7.0 0.0 0.0 0.0 4 0 False duplicates(7) FAIL False chr5:150119522 chr19:52561499 chr5:150119522-chr19:52561499 . . low 15680 2 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(4.0<8.0) duplicates(7) TTCAACAGCCTCTACACCACCCTGAGCGACGTGTGGTCCTTCGGGATCCTGCTCTGGGAGATCTTCACCTTGG___GTGGCACCCCTTACCCAGAGCTGCCCATGAACGAGCAGTTCTACA|CACACTGGCCTGCTGTACTTATTTGAGAAATAATGTTAATTTGCCTCCAGATTTTTTTTTTTTTTTGAGACGGA PDGFRB ZNF701 ENSG00000113721 ENSG00000167562 FNSLYTTLSDVWSFGILLWEIFTLGGTPYPELPMNEQFY|thwpavli* LH00995:25:23T55JLT4:1:2113:44476:12490,LH00995:25:23T55JLT4:2:2433:20020:14914,LH00995:25:23T55JLT4:3:1136:46975:23294,LH00995:25:23T55JLT4:4:1308:20610:2653,LH00995:25:23T55JLT4:4:1308:20618:2667,LH00995:25:23T55JLT4:5:2141:24081:4321,LH00995:25:23T55JLT4:5:2273:37243:18684,LH00995:25:23T55JLT4:5:2490:47938:19945,LH00995:25:23T55JLT4:8:1427:6833:11299,LH00995:25:23T55JLT4:8:1444:31338:8230,LH00995:25:23T55JLT4:8:2276:37826:9463 out-of-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Protein_kinase_domain(88%)|KRAB_box(100%),Zinc_finger__C2H2_type(78%) CDS intron 4 0 -/- +/+ . 4 ENST00000261799 . translocation 0.0002550369803621525 0.0 0.00012751849018107625 1173_FM Arriba
fp_audit 1173_FM fusion PDGFRB--ZNF808 PDGFRB--ZNF808 PDGFRB--ZNF808 FP FP Arriba dev_rna_exp0016 1173_FM altera_exact 1173 clinical patient crc Colorectal 77 unknown False 1173_FM_T1_RNA_SLD_01 tRNA altera_inhouse ssf 130.00 38.00 52.77 AIH_Ext13_RNA C02 False dev_rna_exp0016_lib_s27 200.00 37.21 dev_rna_exp0016 C04 False 1173_FM_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_FM_T1_RNA_SLD_01_A23T55JLT4_2 BND chr5 chr19 PDGFRB ZNF808 150119522 52561499 chr5:150119522-chr19:52561499 -,+ Arriba 1 0 4 4 PASS out-of-frame PDGFRB--ZNF808 PDGFRB--ZNF808 confidence:low;duplicates(7) low translocation CDS intron 15680 2 7.0 0.0 0.0 0.0 4 0 False duplicates(7) FAIL False chr5:150119522 chr19:52561499 chr5:150119522-chr19:52561499 . . low 15680 2 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(4.0<8.0) duplicates(7) TTCAACAGCCTCTACACCACCCTGAGCGACGTGTGGTCCTTCGGGATCCTGCTCTGGGAGATCTTCACCTTGG___GTGGCACCCCTTACCCAGAGCTGCCCATGAACGAGCAGTTCTACA|CACACTGGCCTGCTGTACTTATTTGAGAAATAATGTTAATTTGCCTCCAGATTTTTTTTTTTTTTTGAGACGGA PDGFRB ZNF808 ENSG00000113721 ENSG00000198482 FNSLYTTLSDVWSFGILLWEIFTLGGTPYPELPMNEQFY|thwpavli* LH00995:25:23T55JLT4:1:2113:44476:12490,LH00995:25:23T55JLT4:2:2433:20020:14914,LH00995:25:23T55JLT4:3:1136:46975:23294,LH00995:25:23T55JLT4:4:1308:20610:2653,LH00995:25:23T55JLT4:4:1308:20618:2667,LH00995:25:23T55JLT4:5:2141:24081:4321,LH00995:25:23T55JLT4:5:2273:37243:18684,LH00995:25:23T55JLT4:5:2490:47938:19945,LH00995:25:23T55JLT4:8:1427:6833:11299,LH00995:25:23T55JLT4:8:1444:31338:8230,LH00995:25:23T55JLT4:8:2276:37826:9463 out-of-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Protein_kinase_domain(88%)| CDS intron 4 0 -/- +/+ . 4 ENST00000261799 . translocation 0.0002550369803621525 0.0 0.00012751849018107625 1173_FM Arriba
fp_audit 1173_FM fusion PDGFRB--ZNF808 PDGFRB--ZNF808 PDGFRB--ZNF808 FP FP Arriba dev_rna_exp0016 1173_FM altera_exact 1173 clinical patient crc Colorectal 77 unknown False 1173_FM_T1_RNA_SLD_01 tRNA altera_inhouse ssf 130.00 38.00 52.77 AIH_Ext13_RNA C02 False dev_rna_exp0016_lib_s27 200.00 37.21 dev_rna_exp0016 C04 False 1173_FM_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_FM_T1_RNA_SLD_01_A23T55JLT4_2 BND chr5 chr19 PDGFRB ZNF808 150119522 52561499 chr5:150119522-chr19:52561499 -,+ Arriba 1 0 4 4 PASS out-of-frame PDGFRB--ZNF808 PDGFRB--ZNF808 confidence:low;duplicates(7) low translocation CDS intron 15680 2 7.0 0.0 0.0 0.0 4 0 False duplicates(7) FAIL False chr5:150119522 chr19:52561499 chr5:150119522-chr19:52561499 . . low 15680 2 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(4.0<8.0) duplicates(7) TTCAACAGCCTCTACACCACCCTGAGCGACGTGTGGTCCTTCGGGATCCTGCTCTGGGAGATCTTCACCTTGG___GTGGCACCCCTTACCCAGAGCTGCCCATGAACGAGCAGTTCTACA|CACACTGGCCTGCTGTACTTATTTGAGAAATAATGTTAATTTGCCTCCAGATTTTTTTTTTTTTTTGAGACGGA PDGFRB ZNF808 ENSG00000113721 ENSG00000198482 FNSLYTTLSDVWSFGILLWEIFTLGGTPYPELPMNEQFY|thwpavli* LH00995:25:23T55JLT4:1:2113:44476:12490,LH00995:25:23T55JLT4:2:2433:20020:14914,LH00995:25:23T55JLT4:3:1136:46975:23294,LH00995:25:23T55JLT4:4:1308:20610:2653,LH00995:25:23T55JLT4:4:1308:20618:2667,LH00995:25:23T55JLT4:5:2141:24081:4321,LH00995:25:23T55JLT4:5:2273:37243:18684,LH00995:25:23T55JLT4:5:2490:47938:19945,LH00995:25:23T55JLT4:8:1427:6833:11299,LH00995:25:23T55JLT4:8:1444:31338:8230,LH00995:25:23T55JLT4:8:2276:37826:9463 out-of-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Protein_kinase_domain(88%)| CDS intron 4 0 -/- +/+ . 4 ENST00000261799 . translocation 0.0002550369803621525 0.0 0.00012751849018107625 1173_FM Arriba
fp_audit 1173_FWA fusion KAT2B--MET MET--KAT2B KAT2B--MET FP FP Arriba dev_rna_exp0016 1173_FWA altera_exact 1173 clinical patient crc Colorectal unknown False 1173_FWA_T1_RNA_SLD_01 tRNA altera_inhouse ssf 5.39 35.00 47.02 AIH_Ext12_RNA C02 False dev_rna_exp0016_lib_s70 100.00 3.18 dev_rna_exp0016 F09 False 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_1 BND chr7 chr3 MET KAT2B 116724249 20072333 chr7:116724249-chr3:20072333 +,+ Arriba 1 0 4 4 PASS MET--KAT2B KAT2B--MET confidence:medium;duplicates(3),mismatches(3) medium translocation exon/splice-site CDS/splice-site 7 428 3.0 3.0 0.0 0.0 0 4 duplicates(3),mismatches(3) FAIL False chr7:116724249 chr3:20072333 chr7:116724249-chr3:20072333 . . medium 7 428 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(3),mismatches(3) GTTTcTTAAGCCGGTCtGAAAAGCGCAATATTCGGGTGGGAGTGACCCGATTTTCCAG|GCCGAGGAGTCTTGTAAATGTAATGGCTGGAAAAACCCTAACCCCTCACCCACTCCCCCCAGAGCCGACCTGCAGCAAATAATTGTCAGTCTAACAGAATCCTGTCGGAG MET KAT2B ENSG00000105976 ENSG00000114166 . LH00995:25:23T55JLT4:1:1244:32203:21248,LH00995:25:23T55JLT4:1:1411:6760:13723,LH00995:25:23T55JLT4:1:2352:15611:16189,LH00995:25:23T55JLT4:2:2461:47364:1322,LH00995:25:23T55JLT4:3:1169:23806:18978,LH00995:25:23T55JLT4:4:1127:18677:27665,LH00995:25:23T55JLT4:5:1158:24073:8370,LH00995:25:23T55JLT4:5:2437:39411:8539,LH00995:25:23T55JLT4:8:2496:40665:29291,LH00995:25:23T55JLT4:5:2431:16031:25493 . Sema_domain(79%)|Acetyltransferase_(GNAT)_family(100%),Bromodomain(100%),PCAF_(P300/CBP-associated_factor)_N-terminal_domain(88%) exon/splice-site CDS/splice-site 0 4 +/+ +/+ . 4 ENST00000495962 ENST00000263754 translocation 0.0 0.009259259259259259 0.004629629629629629 1173_FWA Arriba
fp_audit 1173_FWA fusion KAT2B--MET MET--KAT2B KAT2B--MET FP FP Arriba dev_rna_exp0016 1173_FWA altera_exact 1173 clinical patient crc Colorectal unknown False 1173_FWA_T1_RNA_SLD_01 tRNA altera_inhouse ssf 5.39 35.00 47.02 AIH_Ext12_RNA C02 False dev_rna_exp0016_lib_s70 100.00 3.18 dev_rna_exp0016 F09 False 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_1 BND chr7 chr3 MET KAT2B 116724249 20072333 chr7:116724249-chr3:20072333 +,+ STAR-Fusion 1 0 7 0.0187 7 FAIL MET--KAT2B KAT2B--MET "[""INTERCHROMOSOMAL[chr7--chr3]""]" ONLY_REF_SPLICE YES_LDAS 1.8892 False False False GT AG 7 Read count too low: 7 < 8 0 . . . . 0.0187 FAIL . . . MET--KAT2B 7 LH00995:25:23T55JLT4:1:1244:32203:21248,LH00995:25:23T55JLT4:1:1411:6760:13723,LH00995:25:23T55JLT4:1:2352:15611:16189,LH00995:25:23T55JLT4:2:2461:47364:1322,LH00995:25:23T55JLT4:3:1169:23806:18978,LH00995:25:23T55JLT4:5:1158:24073:8370,LH00995:25:23T55JLT4:5:2431:16031:25493 YES_LDAS GT 1.9656 chr7:116724249:+ MET^ENSG00000105976.16 . . . AG 1.8892 chr3:20072333:+ KAT2B^ENSG00000114166.8 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr7--chr3]""]" False chr7:116724249-chr3:20072333 5.5 0.0 Read count too low: 7 < 8 7 1173_FWA STAR-Fusion
fp_audit 1173_FWA fusion KAT2B--MET MET--KAT2B KAT2B--MET FP FP Arriba dev_rna_exp0016 1173_FWA altera_exact 1173 clinical patient crc Colorectal unknown False 1173_FWA_T1_RNA_SLD_01 tRNA altera_inhouse ssf 5.39 35.00 47.02 AIH_Ext12_RNA C02 False dev_rna_exp0016_lib_s70 100.00 3.18 dev_rna_exp0016 F09 False 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_1 BND chr7 chr3 MET KAT2B 116724249 20072333 chr7:116724249-chr3:20072333 +,+ Arriba 1 0 4 4 PASS MET--KAT2B KAT2B--MET confidence:medium;duplicates(3),mismatches(3) medium translocation exon/splice-site CDS/splice-site 7 428 3.0 3.0 0.0 0.0 0 4 duplicates(3),mismatches(3) FAIL False chr7:116724249 chr3:20072333 chr7:116724249-chr3:20072333 . . medium 7 428 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(3),mismatches(3) GTTTcTTAAGCCGGTCtGAAAAGCGCAATATTCGGGTGGGAGTGACCCGATTTTCCAG|GCCGAGGAGTCTTGTAAATGTAATGGCTGGAAAAACCCTAACCCCTCACCCACTCCCCCCAGAGCCGACCTGCAGCAAATAATTGTCAGTCTAACAGAATCCTGTCGGAG MET KAT2B ENSG00000105976 ENSG00000114166 . LH00995:25:23T55JLT4:1:1244:32203:21248,LH00995:25:23T55JLT4:1:1411:6760:13723,LH00995:25:23T55JLT4:1:2352:15611:16189,LH00995:25:23T55JLT4:2:2461:47364:1322,LH00995:25:23T55JLT4:3:1169:23806:18978,LH00995:25:23T55JLT4:4:1127:18677:27665,LH00995:25:23T55JLT4:5:1158:24073:8370,LH00995:25:23T55JLT4:5:2437:39411:8539,LH00995:25:23T55JLT4:8:2496:40665:29291,LH00995:25:23T55JLT4:5:2431:16031:25493 . Sema_domain(79%)|Acetyltransferase_(GNAT)_family(100%),Bromodomain(100%),PCAF_(P300/CBP-associated_factor)_N-terminal_domain(88%) exon/splice-site CDS/splice-site 0 4 +/+ +/+ . 4 ENST00000495962 ENST00000263754 translocation 0.0 0.009259259259259259 0.004629629629629629 1173_FWA Arriba
fp_audit 1173_FWA fusion KAT2B--MET MET--KAT2B KAT2B--MET FP FP Arriba dev_rna_exp0016 1173_FWA altera_exact 1173 clinical patient crc Colorectal unknown False 1173_FWA_T1_RNA_SLD_01 tRNA altera_inhouse ssf 5.39 35.00 47.02 AIH_Ext12_RNA C02 False dev_rna_exp0016_lib_s70 100.00 3.18 dev_rna_exp0016 F09 False 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_1 BND chr7 chr3 MET KAT2B 116724249 20072333 chr7:116724249-chr3:20072333 +,+ STAR-Fusion 1 0 7 0.0187 7 FAIL MET--KAT2B KAT2B--MET "[""INTERCHROMOSOMAL[chr7--chr3]""]" ONLY_REF_SPLICE YES_LDAS 1.8892 False False False GT AG 7 Read count too low: 7 < 8 0 . . . . 0.0187 FAIL . . . MET--KAT2B 7 LH00995:25:23T55JLT4:1:1244:32203:21248,LH00995:25:23T55JLT4:1:1411:6760:13723,LH00995:25:23T55JLT4:1:2352:15611:16189,LH00995:25:23T55JLT4:2:2461:47364:1322,LH00995:25:23T55JLT4:3:1169:23806:18978,LH00995:25:23T55JLT4:5:1158:24073:8370,LH00995:25:23T55JLT4:5:2431:16031:25493 YES_LDAS GT 1.9656 chr7:116724249:+ MET^ENSG00000105976.16 . . . AG 1.8892 chr3:20072333:+ KAT2B^ENSG00000114166.8 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr7--chr3]""]" False chr7:116724249-chr3:20072333 5.5 0.0 Read count too low: 7 < 8 7 1173_FWA STAR-Fusion
fp_audit 1173_H2E fusion AXL--HNRNPUL1 HNRNPUL1--AXL AXL--HNRNPUL1 FP FP Arriba dev_rna_exp0016 1173_H2E altera_exact 1173 clinical patient lung Lung 78 unknown False 1173_H2E_T1_RNA_SLD_01 tRNA altera_inhouse ssf 30.00 35.00 54.89 AIH_Ext12_RNA H01 False dev_rna_exp0016_lib_s67 100.00 81.80 dev_rna_exp0016 C09 False 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 BND chr19 chr19 HNRNPUL1 AXL 41268322 41262465 chr19:41268322-chr19:41262465 +,- Arriba 1 0 14 14 PASS out-of-frame HNRNPUL1--AXL AXL--HNRNPUL1 confidence:medium;duplicates(2) medium inversion CDS intergenic 4260 8 2.0 0.0 0.0 0.0 8 6 False duplicates(2) FAIL False chr19:41268322 chr19:41262465 chr19:41268322-chr19:41262465 . . medium 4260 8 downstream downstream 0 confidence_below_min(medium<high) duplicates(2) ACTCGGGGCCGGACGGACATT___ATGCCATGGACAATATTACCAGGCAGAACCAATTCTACGATACCCAAGTCATCAAACAAGAAAACGAGTCAGGCTACGAGAGGAGACCACTGGAAATGGA|TTGAACTGTCCCCGGTTCTCAGGAGCCGCCACTGGAGGGCGTCCGGGCGCTGCCAAGGGTTTCTCCATTTGCTGCCGGCCACACCCGCGAACGCCCGCTCGCGAGTGCGTGCCAGA HNRNPUL1 AXL(699),HNRNPUL1(31) ENSG00000105323 . SGPDGHYAMDNITRQNQFYDTQVIKQENESGYERRPLEMd|* LH00995:25:23T55JLT4:1:1285:20618:16680,LH00995:25:23T55JLT4:2:1254:5255:11649,LH00995:25:23T55JLT4:5:1349:33133:26755,LH00995:25:23T55JLT4:6:1185:17220:17016,LH00995:25:23T55JLT4:6:1262:7334:25143,LH00995:25:23T55JLT4:6:1262:7343:25157,LH00995:25:23T55JLT4:8:2169:11541:12700,LH00995:25:23T55JLT4:1:1291:51134:26208,LH00995:25:23T55JLT4:1:2220:38449:8917,LH00995:25:23T55JLT4:2:2113:38052:15797,LH00995:25:23T55JLT4:2:2470:37081:18235,LH00995:25:23T55JLT4:5:1491:2610:14662,LH00995:25:23T55JLT4:6:1134:23256:24190,LH00995:25:23T55JLT4:6:1155:16128:24989,LH00995:25:23T55JLT4:6:2323:7294:17198,LH00995:25:23T55JLT4:8:2450:5555:1687 out-of-frame SAP_domain(100%)| CDS intergenic 8 6 +/+ ./- . 14 ENST00000392006 . inversion 0.0018744142455482662 0.42857142857142855 0.2152229214084884 1173_H2E Arriba
fp_audit 1173_H2E fusion AXL--HNRNPUL1 HNRNPUL1--AXL AXL--HNRNPUL1 FP FP Arriba dev_rna_exp0016 1173_H2E altera_exact 1173 clinical patient lung Lung 78 unknown False 1173_H2E_T1_RNA_SLD_01 tRNA altera_inhouse ssf 30.00 35.00 54.89 AIH_Ext12_RNA H01 False dev_rna_exp0016_lib_s67 100.00 81.80 dev_rna_exp0016 C09 False 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 BND chr19 chr19 HNRNPUL1 AXL 41268322 41262465 chr19:41268322-chr19:41262465 +,- Arriba 1 0 14 14 PASS out-of-frame HNRNPUL1--AXL AXL--HNRNPUL1 confidence:medium;duplicates(2) medium inversion CDS intergenic 4260 8 2.0 0.0 0.0 0.0 8 6 False duplicates(2) FAIL False chr19:41268322 chr19:41262465 chr19:41268322-chr19:41262465 . . medium 4260 8 downstream downstream 0 confidence_below_min(medium<high) duplicates(2) ACTCGGGGCCGGACGGACATT___ATGCCATGGACAATATTACCAGGCAGAACCAATTCTACGATACCCAAGTCATCAAACAAGAAAACGAGTCAGGCTACGAGAGGAGACCACTGGAAATGGA|TTGAACTGTCCCCGGTTCTCAGGAGCCGCCACTGGAGGGCGTCCGGGCGCTGCCAAGGGTTTCTCCATTTGCTGCCGGCCACACCCGCGAACGCCCGCTCGCGAGTGCGTGCCAGA HNRNPUL1 AXL(699),HNRNPUL1(31) ENSG00000105323 . SGPDGHYAMDNITRQNQFYDTQVIKQENESGYERRPLEMd|* LH00995:25:23T55JLT4:1:1285:20618:16680,LH00995:25:23T55JLT4:2:1254:5255:11649,LH00995:25:23T55JLT4:5:1349:33133:26755,LH00995:25:23T55JLT4:6:1185:17220:17016,LH00995:25:23T55JLT4:6:1262:7334:25143,LH00995:25:23T55JLT4:6:1262:7343:25157,LH00995:25:23T55JLT4:8:2169:11541:12700,LH00995:25:23T55JLT4:1:1291:51134:26208,LH00995:25:23T55JLT4:1:2220:38449:8917,LH00995:25:23T55JLT4:2:2113:38052:15797,LH00995:25:23T55JLT4:2:2470:37081:18235,LH00995:25:23T55JLT4:5:1491:2610:14662,LH00995:25:23T55JLT4:6:1134:23256:24190,LH00995:25:23T55JLT4:6:1155:16128:24989,LH00995:25:23T55JLT4:6:2323:7294:17198,LH00995:25:23T55JLT4:8:2450:5555:1687 out-of-frame SAP_domain(100%)| CDS intergenic 8 6 +/+ ./- . 14 ENST00000392006 . inversion 0.0018744142455482662 0.42857142857142855 0.2152229214084884 1173_H2E Arriba
fp_audit 1173_H2E fusion ETS1--FLI1 ETS1--FLI1 ETS1--FLI1 FP FP Arriba dev_rna_exp0016 1173_H2E altera_exact 1173 clinical patient lung Lung 78 unknown False 1173_H2E_T1_RNA_SLD_01 tRNA altera_inhouse ssf 30.00 35.00 54.89 AIH_Ext12_RNA H01 False dev_rna_exp0016_lib_s67 100.00 81.80 dev_rna_exp0016 C09 False 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_1 BND chr11 chr11 ETS1 FLI1 128480191 128758115 chr11:128480191-chr11:128758115 -,+ Arriba 1 0 1 1 PASS out-of-frame ETS1--FLI1 ETS1--FLI1 confidence:low low inversion CDS/splice-site CDS/splice-site 1852 10498 0 1 False FAIL False chr11:128480191 chr11:128758115 chr11:128480191-chr11:128758115 . . low 1852 10498 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GGACAAGCCTGTCATTCCTGCTGCTGCCCTAGCTGGCTACACAG|GAGGCTCTGTCGGTGGTGAGCGACGACCAGTCCCTCTTTGACTCAGCGTACGGAGCGGCAGC ETS1 FLI1 ENSG00000134954 ENSG00000151702 DKPVIPAAALAGYT|ggsvggerrpvpl* LH00995:25:23T55JLT4:8:2486:42332:26993 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)|Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) CDS/splice-site CDS/splice-site 0 1 -/- +/+ . 1 ENST00000392668 ENST00000527786 inversion 0.0 9.524716639679969e-05 4.7623583198399846e-05 1173_H2E Arriba
fp_audit 1173_H2E fusion ETS1--FLI1 ETS1--FLI1 ETS1--FLI1 FP FP Arriba dev_rna_exp0016 1173_H2E altera_exact 1173 clinical patient lung Lung 78 unknown False 1173_H2E_T1_RNA_SLD_01 tRNA altera_inhouse ssf 30.00 35.00 54.89 AIH_Ext12_RNA H01 False dev_rna_exp0016_lib_s67 100.00 81.80 dev_rna_exp0016 C09 False 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_1 BND chr11 chr11 ETS1 FLI1 128484823 128758115 chr11:128484823-chr11:128758115 -,+ Arriba 1 0 1 1 PASS out-of-frame ETS1--FLI1 ETS1--FLI1 confidence:low low inversion CDS/splice-site CDS/splice-site 4776 10498 1 0 False FAIL False chr11:128484823 chr11:128758115 chr11:128484823-chr11:128758115 . . low 4776 10498 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GTCCTATCAGACGCTCCATCCCATCAGCTCGGAAGAGCTCCTCTCCCTCAAGTATGAGAATGACTACCCCTCGGTCATTCTCCGAGACCCTCTCCAGACAGACACCTTGCAGAATGACTACTTTGCTATCAAACAAGAAGTCGTCACtCCAGACAACATGTGCATGGGGAGGACCAGTCGTG|GAGGCTCTGTCGGTGGTGAGCGACGACCAGTCCCTCTTTGACTCAGCGTACGGAGC ETS1 FLI1 ENSG00000134954 ENSG00000151702 SYQTLHPISSEELLSLKYENDYPSVILRDPLQTDTLQNDYFAIKQEVVTPDNMCMGRTSR|ggsvggerrpvpl* LH00995:25:23T55JLT4:5:1349:31127:28744 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)|Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000392668 ENST00000527786 inversion 0.00020933640360058616 0.0 0.00010466820180029308 1173_H2E Arriba
fp_audit 1173_H2E fusion ETS1--FLI1 ETS1--FLI1 ETS1--FLI1 FP FP Arriba dev_rna_exp0016 1173_H2E altera_exact 1173 clinical patient lung Lung 78 unknown False 1173_H2E_T1_RNA_SLD_01 tRNA altera_inhouse ssf 30.00 35.00 54.89 AIH_Ext12_RNA H01 False dev_rna_exp0016_lib_s67 100.00 81.80 dev_rna_exp0016 C09 False 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_1 BND chr11 chr11 ETS1 FLI1 128521913 128781958 chr11:128521913-chr11:128781958 -,+ Arriba 1 0 1 1 PASS in-frame ETS1--FLI1 ETS1--FLI1 confidence:low low inversion CDS/splice-site CDS/splice-site 13937 5827 1 0 True FAIL False chr11:128521913 chr11:128781958 chr11:128521913-chr11:128781958 . . low 13937 5827 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CTCATTAAAAAGAAAAACAACAGTAACTGCAAACTTGCTACCATCCCGTACGTCCCCCACTCCTGGCACCATGAAGGCGGCCGTCGATCTCAAGCCGACTCTCACCATCATCAAGACGGAAAAAGTCGATCTGGAGCTTTTCCCCTCCCCGG|GTTCACTGCTGGCCTATAATACAACCTCCC ETS1 FLI1 ENSG00000134954 ENSG00000151702 MKAAVDLKPTLTIIKTEKVDLELFPSP|gSLLAYNTTS LH00995:25:23T55JLT4:6:2381:2836:13009 in-frame |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(0%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000535549 ENST00000344954 inversion 7.174630506528914e-05 0.0 3.587315253264457e-05 1173_H2E Arriba
fp_audit 1173_H2E fusion ETS1--FLI1 ETS1--FLI1 ETS1--FLI1 FP FP Arriba dev_rna_exp0016 1173_H2E altera_exact 1173 clinical patient lung Lung 78 unknown False 1173_H2E_T1_RNA_SLD_01 tRNA altera_inhouse ssf 30.00 35.00 54.89 AIH_Ext12_RNA H01 False dev_rna_exp0016_lib_s67 100.00 81.80 dev_rna_exp0016 C09 False 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_1 BND chr11 chr11 ETS1 FLI1 128521912 128768120 chr11:128521912-chr11:128768120 -,+ Arriba 1 0 1 1 PASS out-of-frame ETS1--FLI1 ETS1--FLI1 confidence:low low inversion intron CDS/splice-site 13937 7711 0 1 False FAIL False chr11:128521912 chr11:128768120 chr11:128521912-chr11:128768120 . . low 13937 7711 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GAGCTTTTCCCCTCCCCGGG|AGTCTCCGGTGGACTGCAGCGTTAGCAAATGCAGCAAGCTGGTGGGCGGAGGCGAGTCCAACCCCATGAACTACAACAGCTATATGGAC ETS1 FLI1 ENSG00000134954 ENSG00000151702 ELFPSPg|vsgglqr* LH00995:25:23T55JLT4:2:1262:27462:26741 out-of-frame |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) intron CDS/splice-site 0 1 -/- +/+ . 1 ENST00000535549 ENST00000281428 inversion 0.0 0.00012966804979253112 6.483402489626556e-05 1173_H2E Arriba
fp_audit 1173_H2E fusion ETS1--FLI1 ETS1--FLI1 ETS1--FLI1 FP FP Arriba dev_rna_exp0016 1173_H2E altera_exact 1173 clinical patient lung Lung 78 unknown False 1173_H2E_T1_RNA_SLD_01 tRNA altera_inhouse ssf 30.00 35.00 54.89 AIH_Ext12_RNA H01 False dev_rna_exp0016_lib_s67 100.00 81.80 dev_rna_exp0016 C09 False 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_1 BND chr11 chr11 ETS1 FLI1 128480191 128758115 chr11:128480191-chr11:128758115 -,+ Arriba 1 0 1 1 PASS out-of-frame ETS1--FLI1 ETS1--FLI1 confidence:low low inversion CDS/splice-site CDS/splice-site 1852 10498 0 1 False FAIL False chr11:128480191 chr11:128758115 chr11:128480191-chr11:128758115 . . low 1852 10498 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GGACAAGCCTGTCATTCCTGCTGCTGCCCTAGCTGGCTACACAG|GAGGCTCTGTCGGTGGTGAGCGACGACCAGTCCCTCTTTGACTCAGCGTACGGAGCGGCAGC ETS1 FLI1 ENSG00000134954 ENSG00000151702 DKPVIPAAALAGYT|ggsvggerrpvpl* LH00995:25:23T55JLT4:8:2486:42332:26993 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)|Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) CDS/splice-site CDS/splice-site 0 1 -/- +/+ . 1 ENST00000392668 ENST00000527786 inversion 0.0 9.524716639679969e-05 4.7623583198399846e-05 1173_H2E Arriba
fp_audit 1173_H2E fusion ETS1--FLI1 ETS1--FLI1 ETS1--FLI1 FP FP Arriba dev_rna_exp0016 1173_H2E altera_exact 1173 clinical patient lung Lung 78 unknown False 1173_H2E_T1_RNA_SLD_01 tRNA altera_inhouse ssf 30.00 35.00 54.89 AIH_Ext12_RNA H01 False dev_rna_exp0016_lib_s67 100.00 81.80 dev_rna_exp0016 C09 False 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_1 BND chr11 chr11 ETS1 FLI1 128484823 128758115 chr11:128484823-chr11:128758115 -,+ Arriba 1 0 1 1 PASS out-of-frame ETS1--FLI1 ETS1--FLI1 confidence:low low inversion CDS/splice-site CDS/splice-site 4776 10498 1 0 False FAIL False chr11:128484823 chr11:128758115 chr11:128484823-chr11:128758115 . . low 4776 10498 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GTCCTATCAGACGCTCCATCCCATCAGCTCGGAAGAGCTCCTCTCCCTCAAGTATGAGAATGACTACCCCTCGGTCATTCTCCGAGACCCTCTCCAGACAGACACCTTGCAGAATGACTACTTTGCTATCAAACAAGAAGTCGTCACtCCAGACAACATGTGCATGGGGAGGACCAGTCGTG|GAGGCTCTGTCGGTGGTGAGCGACGACCAGTCCCTCTTTGACTCAGCGTACGGAGC ETS1 FLI1 ENSG00000134954 ENSG00000151702 SYQTLHPISSEELLSLKYENDYPSVILRDPLQTDTLQNDYFAIKQEVVTPDNMCMGRTSR|ggsvggerrpvpl* LH00995:25:23T55JLT4:5:1349:31127:28744 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)|Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000392668 ENST00000527786 inversion 0.00020933640360058616 0.0 0.00010466820180029308 1173_H2E Arriba
fp_audit 1173_H2E fusion ETS1--FLI1 ETS1--FLI1 ETS1--FLI1 FP FP Arriba dev_rna_exp0016 1173_H2E altera_exact 1173 clinical patient lung Lung 78 unknown False 1173_H2E_T1_RNA_SLD_01 tRNA altera_inhouse ssf 30.00 35.00 54.89 AIH_Ext12_RNA H01 False dev_rna_exp0016_lib_s67 100.00 81.80 dev_rna_exp0016 C09 False 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_1 BND chr11 chr11 ETS1 FLI1 128521913 128781958 chr11:128521913-chr11:128781958 -,+ Arriba 1 0 1 1 PASS in-frame ETS1--FLI1 ETS1--FLI1 confidence:low low inversion CDS/splice-site CDS/splice-site 13937 5827 1 0 True FAIL False chr11:128521913 chr11:128781958 chr11:128521913-chr11:128781958 . . low 13937 5827 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CTCATTAAAAAGAAAAACAACAGTAACTGCAAACTTGCTACCATCCCGTACGTCCCCCACTCCTGGCACCATGAAGGCGGCCGTCGATCTCAAGCCGACTCTCACCATCATCAAGACGGAAAAAGTCGATCTGGAGCTTTTCCCCTCCCCGG|GTTCACTGCTGGCCTATAATACAACCTCCC ETS1 FLI1 ENSG00000134954 ENSG00000151702 MKAAVDLKPTLTIIKTEKVDLELFPSP|gSLLAYNTTS LH00995:25:23T55JLT4:6:2381:2836:13009 in-frame |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(0%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000535549 ENST00000344954 inversion 7.174630506528914e-05 0.0 3.587315253264457e-05 1173_H2E Arriba
fp_audit 1173_H2E fusion ETS1--FLI1 ETS1--FLI1 ETS1--FLI1 FP FP Arriba dev_rna_exp0016 1173_H2E altera_exact 1173 clinical patient lung Lung 78 unknown False 1173_H2E_T1_RNA_SLD_01 tRNA altera_inhouse ssf 30.00 35.00 54.89 AIH_Ext12_RNA H01 False dev_rna_exp0016_lib_s67 100.00 81.80 dev_rna_exp0016 C09 False 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_H2E_T1_RNA_SLD_01_A23T55JLT4_1 BND chr11 chr11 ETS1 FLI1 128521912 128768120 chr11:128521912-chr11:128768120 -,+ Arriba 1 0 1 1 PASS out-of-frame ETS1--FLI1 ETS1--FLI1 confidence:low low inversion intron CDS/splice-site 13937 7711 0 1 False FAIL False chr11:128521912 chr11:128768120 chr11:128521912-chr11:128768120 . . low 13937 7711 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GAGCTTTTCCCCTCCCCGGG|AGTCTCCGGTGGACTGCAGCGTTAGCAAATGCAGCAAGCTGGTGGGCGGAGGCGAGTCCAACCCCATGAACTACAACAGCTATATGGAC ETS1 FLI1 ENSG00000134954 ENSG00000151702 ELFPSPg|vsgglqr* LH00995:25:23T55JLT4:2:1262:27462:26741 out-of-frame |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) intron CDS/splice-site 0 1 -/- +/+ . 1 ENST00000535549 ENST00000281428 inversion 0.0 0.00012966804979253112 6.483402489626556e-05 1173_H2E Arriba
fp_audit 1173_HOB fusion NTRK1--TPM4 TPM4--NTRK1 NTRK1--TPM4 FP FP Arriba dev_rna_exp0016 1173_HOB altera_exact 1173 clinical patient crc Colorectal 41 unknown False 1173_HOB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 115.00 38.00 57.01 AIH_Ext13_RNA D01 False dev_rna_exp0016_lib_s20 200.00 71.69 dev_rna_exp0016 D03 False 1173_HOB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_HOB_T1_RNA_SLD_01_A23T55JLT4_1 BND chr19 chr1 TPM4 NTRK1 16093753 156874571 chr19:16093753-chr1:156874571 +,+ Arriba 1 0 36 36 PASS in-frame TPM4--NTRK1 NTRK1--TPM4 confidence:medium;duplicates(141),mismatches(103),multimappers(36) medium translocation CDS/splice-site CDS/splice-site 10714 11013 141.0 103.0 0.0 36.0 0 36 True duplicates(141),mismatches(103),multimappers(36) FAIL False chr19:16093753 chr1:156874571 chr19:16093753-chr1:156874571 . . medium 10714 11013 downstream upstream 0 confidence_below_min(medium<high) duplicates(141),mismatches(103),multimappers(36) CTGGAAAAGACAATTGATGACCTGGAAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGG TPM4 NTRK1 ENSG00000167460 ENSG00000198400 LEKTIDDLE|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKF LH00995:25:23T55JLT4:2:1105:16233:2892,LH00995:25:23T55JLT4:2:1117:27268:26432,LH00995:25:23T55JLT4:2:1117:27276:26418,LH00995:25:23T55JLT4:2:1124:49111:14606,LH00995:25:23T55JLT4:2:1124:50923:9674,LH00995:25:23T55JLT4:2:1125:49289:6283,LH00995:25:23T55JLT4:2:1127:44807:11299,LH00995:25:23T55JLT4:2:1132:28425:27399,LH00995:25:23T55JLT4:2:1158:18644:26628,LH00995:25:23T55JLT4:2:1158:8637:14536,LH00995:25:23T55JLT4:2:1163:9551:7628,LH00995:25:23T55JLT4:2:1169:49864:21010,LH00995:25:23T55JLT4:2:1170:17261:17478,LH00995:25:23T55JLT4:2:1176:47048:6100,LH00995:25:23T55JLT4:2:1186:44443:22775,LH00995:25:23T55JLT4:2:1192:2060:12644,LH00995:25:23T55JLT4:2:1193:10829:15138,LH00995:25:23T55JLT4:2:1193:10837:15152,LH00995:25:23T55JLT4:2:1197:31459:13009,LH00995:25:23T55JLT4:2:1203:26645:9379,LH00995:25:23T55JLT4:2:1205:44055:2261,LH00995:25:23T55JLT4:2:1211:48205:25956,LH00995:25:23T55JLT4:2:1212:29242:3032,LH00995:25:23T55JLT4:2:1212:42987:6128,LH00995:25:23T55JLT4:2:1213:4139:22467,LH00995:25:23T55JLT4:2:1215:17059:25479,LH00995:25:23T55JLT4:2:1215:29930:8819,LH00995:25:23T55JLT4:2:1216:15861:18361,LH00995:25:23T55JLT4:2:1221:41175:19580,LH00995:25:23T55JLT4:2:1235:20287:11846,LH00995:25:23T55JLT4:2:1242:27543:7712,LH00995:25:23T55JLT4:2:1248:9082:29543,LH00995:25:23T55JLT4:2:1249:31313:6591,LH00995:25:23T55JLT4:2:1253:22511:21864,LH00995:25:23T55JLT4:2:1256:1752:20631,LH00995:25:23T55JLT4:2:1259:35132:22845,LH00995:25:23T55JLT4:2:1259:35140:22831,LH00995:25:23T55JLT4:2:1264:30868:19440,LH00995:25:23T55JLT4:2:1272:27115:21290,LH00995:25:23T55JLT4:2:1273:44524:19020,LH00995:25:23T55JLT4:2:1277:34606:20701,LH00995:25:23T55JLT4:2:1278:33481:1294,LH00995:25:23T55JLT4:2:1295:11048:8707,LH00995:25:23T55JLT4:2:1307:38756:26993,LH00995:25:23T55JLT4:2:1308:18749:20253,LH00995:25:23T55JLT4:2:1308:18766:20253,LH00995:25:23T55JLT4:2:1308:43877:21682,LH00995:25:23T55JLT4:2:1321:50923:27749,LH00995:25:23T55JLT4:2:1326:5563:15208,LH00995:25:23T55JLT4:2:1334:1841:19216,LH00995:25:23T55JLT4:2:1343:23361:14508,LH00995:25:23T55JLT4:2:1353:2383:15839,LH00995:25:23T55JLT4:2:1357:37632:22523,LH00995:25:23T55JLT4:2:1367:42817:1855,LH00995:25:23T55JLT4:2:1370:42890:15853,LH00995:25:23T55JLT4:2:1371:4293:1995,LH00995:25:23T55JLT4:2:1377:13871:5358,LH00995:25:23T55JLT4:2:1382:48634:19272,LH00995:25:23T55JLT4:2:1392:29744:14718,LH00995:25:23T55JLT4:2:1396:47809:11789,LH00995:25:23T55JLT4:2:1397:25246:19090,LH00995:25:23T55JLT4:2:1413:41223:27539,LH00995:25:23T55JLT4:2:1414:26645:23532,LH00995:25:23T55JLT4:2:1421:27446:13737,LH00995:25:23T55JLT4:2:1425:50503:12896,LH00995:25:23T55JLT4:2:1426:7124:25227,LH00995:25:23T55JLT4:2:1429:47606:11832,LH00995:25:23T55JLT4:2:1431:43165:13387,LH00995:25:23T55JLT4:2:1433:35124:12742,LH00995:25:23T55JLT4:2:1433:43586:22551,LH00995:25:23T55JLT4:2:1434:43845:16806,LH00995:25:23T55JLT4:2:1440:22074:8777,LH00995:25:23T55JLT4:2:1441:39444:2962,LH00995:25:23T55JLT4:2:1442:49216:11537,LH00995:25:23T55JLT4:2:1442:49224:11551,LH00995:25:23T55JLT4:2:1444:25683:19594,LH00995:25:23T55JLT4:2:1451:14025:11593,LH00995:25:23T55JLT4:2:1465:49079:3704,LH00995:25:23T55JLT4:2:1470:24234:14676,LH00995:25:23T55JLT4:2:1471:49516:1518,LH00995:25:23T55JLT4:2:1479:10538:5806,LH00995:25:23T55JLT4:2:1479:10554:5806,LH00995:25:23T55JLT4:2:1481:47712:27707,LH00995:25:23T55JLT4:2:1484:30359:24611,LH00995:25:23T55JLT4:2:1490:47056:8160,LH00995:25:23T55JLT4:2:1491:18782:19356,LH00995:25:23T55JLT4:2:1491:42162:10640,LH00995:25:23T55JLT4:2:1496:4018:5050,LH00995:25:23T55JLT4:2:1498:14357:16568,LH00995:25:23T55JLT4:2:2101:19664:7039,LH00995:25:23T55JLT4:2:2111:17714:19328,LH00995:25:23T55JLT4:2:2120:23385:7600,LH00995:25:23T55JLT4:2:2126:23490:17535,LH00995:25:23T55JLT4:2:2132:30011:10024,LH00995:25:23T55JLT4:2:2135:30375:2948,LH00995:25:23T55JLT4:2:2144:35237:4195,LH00995:25:23T55JLT4:2:2144:45188:21654,LH00995:25:23T55JLT4:2:2148:24065:8749,LH00995:25:23T55JLT4:2:2155:17115:25634,LH00995:25:23T55JLT4:2:2164:24097:9449,LH00995:25:23T55JLT4:2:2166:29857:12896,LH00995:25:23T55JLT4:2:2167:30666:27525,LH00995:25:23T55JLT4:2:2171:13151:19636,LH00995:25:23T55JLT4:2:2176:27131:9828,LH00995:25:23T55JLT4:2:2179:19914:10444,LH00995:25:23T55JLT4:2:2183:22309:25606,LH00995:25:23T55JLT4:2:2183:4907:13905,LH00995:25:23T55JLT4:2:2184:23846:22775,LH00995:25:23T55JLT4:2:2187:42955:4391,LH00995:25:23T55JLT4:2:2191:24550:28478,LH00995:25:23T55JLT4:2:2192:42979:20855,LH00995:25:23T55JLT4:2:2194:1744:11257,LH00995:25:23T55JLT4:2:2195:40714:20939,LH00995:25:23T55JLT4:5:1101:19332:22663,LH00995:25:23T55JLT4:5:1101:33667:29557,LH00995:25:23T55JLT4:5:1112:14640:8370,LH00995:25:23T55JLT4:5:1119:46458:19118,LH00995:25:23T55JLT4:5:1119:46466:19104,LH00995:25:23T55JLT4:5:1120:34905:17072,LH00995:25:23T55JLT4:5:1126:45260:18782,LH00995:25:23T55JLT4:5:1127:22366:20071,LH00995:25:23T55JLT4:5:1128:42008:29095,LH00995:25:23T55JLT4:5:1138:49953:18557,LH00995:25:23T55JLT4:5:1140:31993:8300,LH00995:25:23T55JLT4:5:1145:18110:2976,LH00995:25:23T55JLT4:5:1145:18118:2990,LH00995:25: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in-frame Tropomyosin(82%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%) CDS/splice-site CDS/splice-site 0 36 +/+ +/+ . 36 ENST00000646974 ENST00000392302 translocation 0.0 0.00325821341297855 0.001629106706489275 1173_HOB Arriba
fp_audit 1173_HOB fusion NTRK1--TPM4 TPM4--NTRK1 NTRK1--TPM4 FP FP Arriba dev_rna_exp0016 1173_HOB altera_exact 1173 clinical patient crc Colorectal 41 unknown False 1173_HOB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 115.00 38.00 57.01 AIH_Ext13_RNA D01 False dev_rna_exp0016_lib_s20 200.00 71.69 dev_rna_exp0016 D03 False 1173_HOB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_HOB_T1_RNA_SLD_01_A23T55JLT4_2 BND chr19 chr1 TPM4 NTRK1 16093753 156874571 chr19:16093753-chr1:156874571 +,+ Arriba 1 0 42 42 PASS in-frame TPM4--NTRK1 NTRK1--TPM4 confidence:medium;duplicates(142),mismatches(92),multimappers(34) medium translocation CDS/splice-site CDS/splice-site 7532 10164 142.0 92.0 0.0 34.0 0 42 True duplicates(142),mismatches(92),multimappers(34) FAIL False chr19:16093753 chr1:156874571 chr19:16093753-chr1:156874571 . . medium 7532 10164 downstream upstream 0 confidence_below_min(medium<high) duplicates(142),mismatches(92),multimappers(34) ACTGGAAAAGACAATTGATGACCTGGAAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAG TPM4 NTRK1 ENSG00000167460 ENSG00000198400 LEKTIDDLE|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRN 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in-frame Tropomyosin(82%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%) CDS/splice-site CDS/splice-site 0 42 +/+ +/+ . 42 ENST00000646974 ENST00000392302 translocation 0.0 0.00411522633744856 0.00205761316872428 1173_HOB Arriba
fp_audit 1173_HOB fusion NTRK1--TPM4 TPM4--NTRK1 NTRK1--TPM4 FP FP Arriba dev_rna_exp0016 1173_HOB altera_exact 1173 clinical patient crc Colorectal 41 unknown False 1173_HOB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 115.00 38.00 57.01 AIH_Ext13_RNA D01 False dev_rna_exp0016_lib_s20 200.00 71.69 dev_rna_exp0016 D03 False 1173_HOB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_HOB_T1_RNA_SLD_01_A23T55JLT4_2 BND chr19 chr1 TPM4 NTRK1 16093753 156874571 chr19:16093753-chr1:156874571 +,+ Arriba 1 0 42 42 PASS in-frame TPM4--NTRK1 NTRK1--TPM4 confidence:medium;duplicates(142),mismatches(92),multimappers(34) medium translocation CDS/splice-site CDS/splice-site 7532 10164 142.0 92.0 0.0 34.0 0 42 True duplicates(142),mismatches(92),multimappers(34) FAIL False chr19:16093753 chr1:156874571 chr19:16093753-chr1:156874571 . . medium 7532 10164 downstream upstream 0 confidence_below_min(medium<high) duplicates(142),mismatches(92),multimappers(34) ACTGGAAAAGACAATTGATGACCTGGAAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAG TPM4 NTRK1 ENSG00000167460 ENSG00000198400 LEKTIDDLE|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRN 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in-frame Tropomyosin(82%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%) CDS/splice-site CDS/splice-site 0 42 +/+ +/+ . 42 ENST00000646974 ENST00000392302 translocation 0.0 0.00411522633744856 0.00205761316872428 1173_HOB Arriba
fp_audit 1173_HOB fusion NTRK1--TPM4 TPM4--NTRK1 NTRK1--TPM4 FP FP Arriba dev_rna_exp0016 1173_HOB altera_exact 1173 clinical patient crc Colorectal 41 unknown False 1173_HOB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 115.00 38.00 57.01 AIH_Ext13_RNA D01 False dev_rna_exp0016_lib_s20 200.00 71.69 dev_rna_exp0016 D03 False 1173_HOB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_HOB_T1_RNA_SLD_01_A23T55JLT4_1 BND chr19 chr1 TPM4 NTRK1 16093753 156874571 chr19:16093753-chr1:156874571 +,+ Arriba 1 0 36 36 PASS in-frame TPM4--NTRK1 NTRK1--TPM4 confidence:medium;duplicates(141),mismatches(103),multimappers(36) medium translocation CDS/splice-site CDS/splice-site 10714 11013 141.0 103.0 0.0 36.0 0 36 True duplicates(141),mismatches(103),multimappers(36) FAIL False chr19:16093753 chr1:156874571 chr19:16093753-chr1:156874571 . . medium 10714 11013 downstream upstream 0 confidence_below_min(medium<high) duplicates(141),mismatches(103),multimappers(36) CTGGAAAAGACAATTGATGACCTGGAAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGG TPM4 NTRK1 ENSG00000167460 ENSG00000198400 LEKTIDDLE|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKF 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LH00995:25:23T55JLT4:5:2405:27632:15096,LH00995:25:23T55JLT4:5:2409:36887:11537,LH00995:25:23T55JLT4:5:2413:39703:22887,LH00995:25:23T55JLT4:5:2418:20845:24611,LH00995:25:23T55JLT4:5:2418:22309:22719,LH00995:25:23T55JLT4:5:2422:21160:3158,LH00995:25:23T55JLT4:5:2438:21864:27441,LH00995:25:23T55JLT4:5:2442:35876:27665,LH00995:25:23T55JLT4:5:2447:11056:19538,LH00995:25:23T55JLT4:5:2459:37017:25017,LH00995:25:23T55JLT4:5:2463:5304:5204,LH00995:25:23T55JLT4:5:2463:6525:24751,LH00995:25:23T55JLT4:5:2465:7132:7614,LH00995:25:23T55JLT4:5:2468:29768:7025,LH00995:25:23T55JLT4:5:2468:44330:19328,LH00995:25:23T55JLT4:5:2475:25424:2079,LH00995:25:23T55JLT4:5:2476:20675:4615,LH00995:25:23T55JLT4:5:2490:51287:9323,LH00995:25:23T55JLT4:6:1101:16379:8861,LH00995:25:23T55JLT4:6:1103:4705:9211,LH00995:25:23T55JLT4:6:1104:14882:10388,LH00995:25:23T55JLT4:6:1105:31710:1589,LH00995:25:23T55JLT4:6:1110:38926:12966,LH00995:25:23T55JLT4:6:1113:25488:4097,LH00995:25:23T55JLT4:6:1114:47153:25199,LH00995:25:23T55JLT4:6:1114:50923:23238,LH00995:25:23T55JLT4:6:1115:28676:16091,LH00995:25:23T55JLT4:6:1115:28684:16077,LH00995:25:23T55JLT4:6:1119:20626:20309,LH00995:25:23T55JLT4:6:1138:2335:22145,LH00995:25:23T55JLT4:6:1140:22204:24443,LH00995:25:23T55JLT4:6:1149:7682:20281,LH00995:25:23T55JLT4:6:1152:22924:12966,LH00995:25:23T55JLT4:6:1152:5660:21570,LH00995:25:23T55JLT4:6:1154:1825:22103,LH00995:25:23T55JLT4:6:1155:16622:17549,LH00995:25:23T55JLT4:6:1157:20821:25073,LH00995:25:23T55JLT4:6:1160:8257:3060,LH00995:25:23T55JLT4:6:1161:9211:8132,LH00995:25:23T55JLT4:6:1163:49281:26642,LH00995:25:23T55JLT4:6:1164:14154:27904,LH00995:25:23T55JLT4:6:1164:14154:27932,LH00995:25:23T55JLT4:6:1164:14162:27918,LH00995:25:23T55JLT4:6:1164:14171:27932,LH00995:25:23T55JLT4:6:1175:34250:12882,LH00995:25:23T55JLT4:6:1176:12714:28660,LH00995:25:23T55JLT4:6:1185:23757:7628,LH00995:25:23T55JLT4:6:1186:19469:3648,LH00995:25:23T55JLT4:6:1250:48869:16540,LH00995:25:23T55JLT4:6:1289:46150:28394,LH00995:25:23T55JLT4:6:2301:27891:13807,LH00995:25:23T55JLT4:6:2306:21354:5484,LH00995:25:23T55JLT4:6:2326:7334:15082,LH00995:25:23T55JLT4:6:2394:2691:13961,LH00995:25:23T55JLT4:6:2404:41935:11201,LH00995:25:23T55JLT4:8:1215:4883:15433,LH00995:25:23T55JLT4:8:1279:11234:22733,LH00995:25:23T55JLT4:8:1286:17973:6044,LH00995:25:23T55JLT4:8:1357:33554:20141,LH00995:25:23T55JLT4:8:1421:36847:15419,LH00995:25:23T55JLT4:8:1456:30140:13919,LH00995:25:23T55JLT4:8:1474:6914:5694,LH00995:25:23T55JLT4:8:2449:32252:20603 in-frame Tropomyosin(82%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%) CDS/splice-site CDS/splice-site 0 36 +/+ +/+ . 36 ENST00000646974 ENST00000392302 translocation 0.0 0.00325821341297855 0.001629106706489275 1173_HOB Arriba
fp_audit 1173_JIG fusion JAK2--KDM1A KDM1A--JAK2 JAK2--KDM1A FP FP Arriba dev_rna_exp0016 1173_JIG altera_exact 1173 clinical patient skin Skin 45 unknown False 1173_JIG_T1_RNA_SLD_01 tRNA altera_inhouse ssf 17.50 38.00 59.07 AIH_Ext13_RNA G04 False dev_rna_exp0016_lib_s47 200.00 47.99 dev_rna_exp0016 G06 False 1173_JIG_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JIG_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr9 KDM1A JAK2 23019947 5092585 chr1:23019947-chr9:5092585 +,+ Arriba 1 0 2 2 PASS out-of-frame KDM1A--JAK2 JAK2--KDM1A confidence:medium medium translocation CDS/splice-site intron 85 62 2 0 False FAIL False chr1:23019947 chr9:5092585 chr1:23019947-chr9:5092585 . . medium 85 62 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(2.0<8.0) . TGTCGTGCCTGGGTCTGCGACCCCCATGGAAACTGGAATAGCAGAGACTCCGGAGGGGCGTCGGACCAGCCGGCGCAAGCGGGCGAAG|g|TAgAGTACCGTAAGGGAAAGATGAAA KDM1A JAK2 ENSG00000004487 ENSG00000096968 VVPGSATPMETGIAETPEGRRTSRRKRAK|veyrkgkm LH00995:25:23T55JLT4:1:1138:21961:21024,LH00995:25:23T55JLT4:2:2326:49864:2205 out-of-frame |Protein_kinase_domain(18%) CDS/splice-site intron 2 0 +/+ +/+ . 2 ENST00000356634 . translocation 0.022988505747126436 0.0 0.011494252873563218 1173_JIG Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 4 4 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:medium;duplicates(1) medium inversion CDS/splice-site 5'UTR/splice-site 861 1835 1.0 0.0 0.0 0.0 2 2 False duplicates(1) FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . medium 861 1835 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(1) CTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 LSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:1:1442:50810:14298,LH00995:25:23T55JLT4:5:1158:7812:21906,LH00995:25:23T55JLT4:2:1452:13240:5582,LH00995:25:23T55JLT4:2:1452:13248:5568,LH00995:25:23T55JLT4:4:1343:19777:28170 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 2 2 +/+ -/- . 4 ENST00000366541 ENST00000673466 inversion 0.002317497103128621 0.0010887316276537834 0.0017031143653912023 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243573048 chr1:243426558-chr1:243573048 +,- Arriba 1 0 2 2 PASS SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:medium medium inversion CDS/splice-site CDS/splice-site 861 30635 1 1 FAIL False chr1:243426558 chr1:243573048 chr1:243426558-chr1:243573048 . . medium 861 30635 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(2.0<8.0) . ACTGCACCTCACCAG___ATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGACTATCTACATT SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 . LH00995:25:23T55JLT4:6:2347:51846:9365,LH00995:25:23T55JLT4:6:1396:38894:8062 . Centrosomal_colon_cancer_autoantigen_protein_family(93%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(67%) CDS/splice-site CDS/splice-site 1 1 +/+ -/- . 2 ENST00000435549 ENST00000336199 inversion 0.001160092807424594 3.264133698916308e-05 0.0005963670722068785 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243695716 chr1:243426558-chr1:243695716 +,- Arriba 1 0 2 2 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(3),mismappers(1) low inversion CDS/splice-site CDS/splice-site 861 27873 3.0 0.0 1.0 0.0 0 2 False duplicates(3),mismappers(1) FAIL False chr1:243426558 chr1:243695716 chr1:243426558-chr1:243695716 . . low 861 27873 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(3),mismappers(1) AGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA___AATGCCAGTTAATGAAAACAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 AQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|riykkleakilpfedrwlihri* LH00995:25:23T55JLT4:2:2408:37826:25241,LH00995:25:23T55JLT4:1:1484:47914:1771,LH00995:25:23T55JLT4:2:1187:43400:10935,LH00995:25:23T55JLT4:2:2227:10878:28478,LH00995:25:23T55JLT4:6:1177:32049:4671,LH00995:25:23T55JLT4:6:1177:32058:4685 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 2 +/+ -/- . 2 ENST00000366541 ENST00000336199 inversion 0.0 7.174887892376682e-05 3.587443946188341e-05 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243286397 243573048 chr1:243286397-chr1:243573048 +,- Arriba 1 0 1 1 PASS in-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 952 30635 1.0 0.0 0.0 0.0 0 1 True duplicates(1) FAIL False chr1:243286397 chr1:243573048 chr1:243286397-chr1:243573048 . . low 952 30635 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GAACAAACACTTCTGGATGCATCC|CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGACTATCTACATTCCGGAAAGATTGTGTACCaTGATCTCAAG___TTGGAGAATCTAATGCTGGAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 EQTLLDAS|LFFHLSRERVFSEDRTRFYGAEIVSALDYLHSGKIVYhDLKLENLML LH00995:25:23T55JLT4:1:2130:13701:18880,LH00995:25:23T55JLT4:4:2453:51943:12812 in-frame Centrosomal_colon_cancer_autoantigen_protein_family(25%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(67%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 3.264133698916308e-05 1.632066849458154e-05 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243664883 chr1:243426558-chr1:243664883 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 861 47117 0 1 False FAIL False chr1:243426558 chr1:243664883 chr1:243426558-chr1:243664883 . . low 861 47117 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . AGTGTGTCCAGCATGGGAGAGTAtATGAGACGATGAAGCAAAG|AATGCCAGTTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACTACTGTTATAGAGAGAACATTTCATGTAGATACTCC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 CVQHGRVyETMKQr|mpvnenrttkakhiynqmspvdycyreniscry LH00995:25:23T55JLT4:7:1393:24251:3018 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 2.1223311685555414e-05 1.0611655842777707e-05 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 1 1 2 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:medium;duplicates(1) medium inversion CDS/splice-site 5'UTR/splice-site 773 2550 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . medium 773 2550 downstream downstream 1 confidence_below_min(medium<high);total_reads_below_min(2.0<8.0) duplicates(1) TGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAG___ATCTGAAATAGCTtAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTT SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 EQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTRSEIA*LSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:8:2233:13685:17591,LH00995:25:23T55JLT4:8:2233:13693:17577,LH00995:25:23T55JLT4:2:1354:20060:8427 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 1 0 +/+ -/- . 2 ENST00000366541 ENST00000673466 inversion 0.001936733376371853 0.00019603999215840032 0.0010663866842651267 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243695716 chr1:243426558-chr1:243695716 +,- Arriba 1 0 2 2 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 773 28108 0 2 False FAIL False chr1:243426558 chr1:243695716 chr1:243426558-chr1:243695716 . . low 773 28108 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) . GAGACGATGAAGCAAAG|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA___AATGCCAGTTAATGAAAAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 ETMKQr|riykkleakilpfedrwlihri* LH00995:25:23T55JLT4:3:2449:5312:19342,LH00995:25:23T55JLT4:6:1480:38441:19608 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 2 +/+ -/- . 2 ENST00000366541 ENST00000336199 inversion 0.0 7.114905727499111e-05 3.5574528637495556e-05 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243256240 243664883 chr1:243256240-chr1:243664883 +,- Arriba 1 0 1 1 PASS in-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 646 46469 1 0 True FAIL False chr1:243256240 chr1:243664883 chr1:243256240-chr1:243664883 . . low 646 46469 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|AATGCCAGTTAATGAAAAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 AKSPENSTLEEILGQYQRSLR|eCQLMK LH00995:25:23T55JLT4:1:2136:45058:23924 in-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0015455950540958269 0.0 0.0007727975270479134 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243415829 243695716 chr1:243415829-chr1:243695716 +,- Arriba 1 0 1 1 PASS in-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 512 28108 1.0 0.0 0.0 0.0 0 1 True duplicates(1) FAIL False chr1:243415829 chr1:243695716 chr1:243415829-chr1:243695716 . . low 512 28108 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GATACAGCAAATGGAGGCCCAGCATGACAAAACTG|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA___AATGCCAGTTAATG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 IQQMEAQHDKT|gEYIKNWRPRYFLLKTDGSFIGYKEKPQDVDLPYPLNNFSVAKCQL LH00995:25:23T55JLT4:1:2480:37874:3522,LH00995:25:23T55JLT4:6:1423:40528:29389 in-frame Centrosomal_colon_cancer_autoantigen_protein_family(82%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 3.557579422960618e-05 1.778789711480309e-05 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243418076 243573048 chr1:243418076-chr1:243573048 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 573 30530 1 0 False FAIL False chr1:243418076 chr1:243573048 chr1:243418076-chr1:243573048 . . low 573 30530 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . AGGCCCAGCATGACAAAACTG___AAAATGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAG|CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTAT SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 AQHDKTENEQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTs|cfsicresgcslrtahvs LH00995:25:23T55JLT4:6:1153:34258:19426 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(87%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(67%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0017421602787456446 0.0 0.0008710801393728223 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 1 1 2 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:medium;duplicates(1) medium inversion CDS/splice-site 5'UTR/splice-site 773 2550 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . medium 773 2550 downstream downstream 1 confidence_below_min(medium<high);total_reads_below_min(2.0<8.0) duplicates(1) TGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAG___ATCTGAAATAGCTtAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTT SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 EQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTRSEIA*LSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:8:2233:13685:17591,LH00995:25:23T55JLT4:8:2233:13693:17577,LH00995:25:23T55JLT4:2:1354:20060:8427 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 1 0 +/+ -/- . 2 ENST00000366541 ENST00000673466 inversion 0.001936733376371853 0.00019603999215840032 0.0010663866842651267 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243695716 chr1:243426558-chr1:243695716 +,- Arriba 1 0 2 2 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 773 28108 0 2 False FAIL False chr1:243426558 chr1:243695716 chr1:243426558-chr1:243695716 . . low 773 28108 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) . GAGACGATGAAGCAAAG|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA___AATGCCAGTTAATGAAAAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 ETMKQr|riykkleakilpfedrwlihri* LH00995:25:23T55JLT4:3:2449:5312:19342,LH00995:25:23T55JLT4:6:1480:38441:19608 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 2 +/+ -/- . 2 ENST00000366541 ENST00000336199 inversion 0.0 7.114905727499111e-05 3.5574528637495556e-05 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243256240 243664883 chr1:243256240-chr1:243664883 +,- Arriba 1 0 1 1 PASS in-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 646 46469 1 0 True FAIL False chr1:243256240 chr1:243664883 chr1:243256240-chr1:243664883 . . low 646 46469 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|AATGCCAGTTAATGAAAAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 AKSPENSTLEEILGQYQRSLR|eCQLMK LH00995:25:23T55JLT4:1:2136:45058:23924 in-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0015455950540958269 0.0 0.0007727975270479134 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243415829 243695716 chr1:243415829-chr1:243695716 +,- Arriba 1 0 1 1 PASS in-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 512 28108 1.0 0.0 0.0 0.0 0 1 True duplicates(1) FAIL False chr1:243415829 chr1:243695716 chr1:243415829-chr1:243695716 . . low 512 28108 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GATACAGCAAATGGAGGCCCAGCATGACAAAACTG|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA___AATGCCAGTTAATG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 IQQMEAQHDKT|gEYIKNWRPRYFLLKTDGSFIGYKEKPQDVDLPYPLNNFSVAKCQL LH00995:25:23T55JLT4:1:2480:37874:3522,LH00995:25:23T55JLT4:6:1423:40528:29389 in-frame Centrosomal_colon_cancer_autoantigen_protein_family(82%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 3.557579422960618e-05 1.778789711480309e-05 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243418076 243573048 chr1:243418076-chr1:243573048 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 573 30530 1 0 False FAIL False chr1:243418076 chr1:243573048 chr1:243418076-chr1:243573048 . . low 573 30530 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . AGGCCCAGCATGACAAAACTG___AAAATGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAG|CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTAT SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 AQHDKTENEQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTs|cfsicresgcslrtahvs LH00995:25:23T55JLT4:6:1153:34258:19426 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(87%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(67%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0017421602787456446 0.0 0.0008710801393728223 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 4 4 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:medium;duplicates(1) medium inversion CDS/splice-site 5'UTR/splice-site 861 1835 1.0 0.0 0.0 0.0 2 2 False duplicates(1) FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . medium 861 1835 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(1) CTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 LSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:1:1442:50810:14298,LH00995:25:23T55JLT4:5:1158:7812:21906,LH00995:25:23T55JLT4:2:1452:13240:5582,LH00995:25:23T55JLT4:2:1452:13248:5568,LH00995:25:23T55JLT4:4:1343:19777:28170 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 2 2 +/+ -/- . 4 ENST00000366541 ENST00000673466 inversion 0.002317497103128621 0.0010887316276537834 0.0017031143653912023 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243573048 chr1:243426558-chr1:243573048 +,- Arriba 1 0 2 2 PASS SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:medium medium inversion CDS/splice-site CDS/splice-site 861 30635 1 1 FAIL False chr1:243426558 chr1:243573048 chr1:243426558-chr1:243573048 . . medium 861 30635 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(2.0<8.0) . ACTGCACCTCACCAG___ATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGACTATCTACATT SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 . LH00995:25:23T55JLT4:6:2347:51846:9365,LH00995:25:23T55JLT4:6:1396:38894:8062 . Centrosomal_colon_cancer_autoantigen_protein_family(93%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(67%) CDS/splice-site CDS/splice-site 1 1 +/+ -/- . 2 ENST00000435549 ENST00000336199 inversion 0.001160092807424594 3.264133698916308e-05 0.0005963670722068785 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243695716 chr1:243426558-chr1:243695716 +,- Arriba 1 0 2 2 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(3),mismappers(1) low inversion CDS/splice-site CDS/splice-site 861 27873 3.0 0.0 1.0 0.0 0 2 False duplicates(3),mismappers(1) FAIL False chr1:243426558 chr1:243695716 chr1:243426558-chr1:243695716 . . low 861 27873 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(3),mismappers(1) AGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA___AATGCCAGTTAATGAAAACAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 AQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|riykkleakilpfedrwlihri* LH00995:25:23T55JLT4:2:2408:37826:25241,LH00995:25:23T55JLT4:1:1484:47914:1771,LH00995:25:23T55JLT4:2:1187:43400:10935,LH00995:25:23T55JLT4:2:2227:10878:28478,LH00995:25:23T55JLT4:6:1177:32049:4671,LH00995:25:23T55JLT4:6:1177:32058:4685 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 2 +/+ -/- . 2 ENST00000366541 ENST00000336199 inversion 0.0 7.174887892376682e-05 3.587443946188341e-05 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243286397 243573048 chr1:243286397-chr1:243573048 +,- Arriba 1 0 1 1 PASS in-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 952 30635 1.0 0.0 0.0 0.0 0 1 True duplicates(1) FAIL False chr1:243286397 chr1:243573048 chr1:243286397-chr1:243573048 . . low 952 30635 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GAACAAACACTTCTGGATGCATCC|CTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGACTATCTACATTCCGGAAAGATTGTGTACCaTGATCTCAAG___TTGGAGAATCTAATGCTGGAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 EQTLLDAS|LFFHLSRERVFSEDRTRFYGAEIVSALDYLHSGKIVYhDLKLENLML LH00995:25:23T55JLT4:1:2130:13701:18880,LH00995:25:23T55JLT4:4:2453:51943:12812 in-frame Centrosomal_colon_cancer_autoantigen_protein_family(25%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(67%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 3.264133698916308e-05 1.632066849458154e-05 1173_JXL Arriba
fp_audit 1173_JXL fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_JXL altera_exact 1173 clinical patient skin Skin 44 unknown False 1173_JXL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 89.30 38.00 73.57 AIH_Ext13_RNA G01 False dev_rna_exp0016_lib_s23 200.00 71.35 dev_rna_exp0016 G03 False 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_JXL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243664883 chr1:243426558-chr1:243664883 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 861 47117 0 1 False FAIL False chr1:243426558 chr1:243664883 chr1:243426558-chr1:243664883 . . low 861 47117 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . AGTGTGTCCAGCATGGGAGAGTAtATGAGACGATGAAGCAAAG|AATGCCAGTTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACTACTGTTATAGAGAGAACATTTCATGTAGATACTCC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 CVQHGRVyETMKQr|mpvnenrttkakhiynqmspvdycyreniscry LH00995:25:23T55JLT4:7:1393:24251:3018 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 2.1223311685555414e-05 1.0611655842777707e-05 1173_JXL Arriba
fp_audit 1173_KQG fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_KQG altera_exact 1173 clinical patient sarcoma Sarcoma 44 unknown False 1173_KQG_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.60 35.00 51.57 AIH_Ext12_RNA G01 False dev_rna_exp0016_lib_s66 100.00 99.64 dev_rna_exp0016 B09 False 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site 5'UTR/splice-site 656 2152 1.0 0.0 0.0 0.0 0 1 False duplicates(1) FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . low 656 2152 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGT-ATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGGG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 EELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:3:1365:46959:22285,LH00995:25:23T55JLT4:3:2393:35690:17506 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.00046446818392940084 0.00023223409196470042 1173_KQG Arriba
fp_audit 1173_KQG fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_KQG altera_exact 1173 clinical patient sarcoma Sarcoma 44 unknown False 1173_KQG_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.60 35.00 51.57 AIH_Ext12_RNA G01 False dev_rna_exp0016_lib_s66 100.00 99.64 dev_rna_exp0016 B09 False 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243664883 chr1:243426558-chr1:243664883 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 656 18906 1 0 False FAIL False chr1:243426558 chr1:243664883 chr1:243426558-chr1:243664883 . . low 656 18906 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . TCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|AATGCCAGTTAATGAAAAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 SEIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|mpvne LH00995:25:23T55JLT4:1:1368:20335:5988 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0015220700152207 0.0 0.00076103500761035 1173_KQG Arriba
fp_audit 1173_KQG fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_KQG altera_exact 1173 clinical patient sarcoma Sarcoma 44 unknown False 1173_KQG_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.60 35.00 51.57 AIH_Ext12_RNA G01 False dev_rna_exp0016_lib_s66 100.00 99.64 dev_rna_exp0016 B09 False 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site 5'UTR/splice-site 656 2152 1.0 0.0 0.0 0.0 0 1 False duplicates(1) FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . low 656 2152 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGT-ATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGGG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 EELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:3:1365:46959:22285,LH00995:25:23T55JLT4:3:2393:35690:17506 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.00046446818392940084 0.00023223409196470042 1173_KQG Arriba
fp_audit 1173_KQG fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_KQG altera_exact 1173 clinical patient sarcoma Sarcoma 44 unknown False 1173_KQG_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.60 35.00 51.57 AIH_Ext12_RNA G01 False dev_rna_exp0016_lib_s66 100.00 99.64 dev_rna_exp0016 B09 False 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243426558 243664883 chr1:243426558-chr1:243664883 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 656 18906 1 0 False FAIL False chr1:243426558 chr1:243664883 chr1:243426558-chr1:243664883 . . low 656 18906 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . TCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|AATGCCAGTTAATGAAAAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 SEIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|mpvne LH00995:25:23T55JLT4:1:1368:20335:5988 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0015220700152207 0.0 0.00076103500761035 1173_KQG Arriba
fp_audit 1173_KQG fusion JAK2--KDM1A KDM1A--JAK2 JAK2--KDM1A FP FP Arriba dev_rna_exp0016 1173_KQG altera_exact 1173 clinical patient sarcoma Sarcoma 44 unknown False 1173_KQG_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.60 35.00 51.57 AIH_Ext12_RNA G01 False dev_rna_exp0016_lib_s66 100.00 99.64 dev_rna_exp0016 B09 False 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr9 KDM1A JAK2 23019947 5092585 chr1:23019947-chr9:5092585 +,+ Arriba 1 0 3 3 PASS out-of-frame KDM1A--JAK2 JAK2--KDM1A confidence:medium medium translocation CDS/splice-site intron 477 0 3 0 False FAIL False chr1:23019947 chr9:5092585 chr1:23019947-chr9:5092585 . . medium 477 0 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) . CGCCCCCCGGGGGCCTGGCGGAACCGCCGGGGTCCGCAGGGCCTCAGGCCGGCCCTACTGTCGTGCCTGGGTCTGCGACCCCCATGGAAACTGGAATAGCAGAGACTCCGGAGGGGCGTCGGACCAGCCGGCGCAAGCGGGCGAAG|g|TAgAGTACCGTAAGGGAAAGATGAAAG KDM1A JAK2 ENSG00000004487 ENSG00000096968 PPGGLAEPPGSAGPQAGPTVVPGSATPMETGIAETPEGRRTSRRKRAK|veyrkgkmk LH00995:25:23T55JLT4:6:1265:38068:18684,LH00995:25:23T55JLT4:6:2455:37114:18936,LH00995:25:23T55JLT4:8:2163:16136:5246 out-of-frame |Protein_kinase_domain(18%) CDS/splice-site intron 3 0 +/+ +/+ . 3 ENST00000356634 . translocation 0.00625 1173_KQG Arriba
fp_audit 1173_KQG fusion JAK2--KDM1A KDM1A--JAK2 JAK2--KDM1A FP FP Arriba dev_rna_exp0016 1173_KQG altera_exact 1173 clinical patient sarcoma Sarcoma 44 unknown False 1173_KQG_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.60 35.00 51.57 AIH_Ext12_RNA G01 False dev_rna_exp0016_lib_s66 100.00 99.64 dev_rna_exp0016 B09 False 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_KQG_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr9 KDM1A JAK2 23019947 5092585 chr1:23019947-chr9:5092585 +,+ Arriba 1 0 3 3 PASS out-of-frame KDM1A--JAK2 JAK2--KDM1A confidence:medium medium translocation CDS/splice-site intron 477 0 3 0 False FAIL False chr1:23019947 chr9:5092585 chr1:23019947-chr9:5092585 . . medium 477 0 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) . CGCCCCCCGGGGGCCTGGCGGAACCGCCGGGGTCCGCAGGGCCTCAGGCCGGCCCTACTGTCGTGCCTGGGTCTGCGACCCCCATGGAAACTGGAATAGCAGAGACTCCGGAGGGGCGTCGGACCAGCCGGCGCAAGCGGGCGAAG|g|TAgAGTACCGTAAGGGAAAGATGAAAG KDM1A JAK2 ENSG00000004487 ENSG00000096968 PPGGLAEPPGSAGPQAGPTVVPGSATPMETGIAETPEGRRTSRRKRAK|veyrkgkmk LH00995:25:23T55JLT4:6:1265:38068:18684,LH00995:25:23T55JLT4:6:2455:37114:18936,LH00995:25:23T55JLT4:8:2163:16136:5246 out-of-frame |Protein_kinase_domain(18%) CDS/splice-site intron 3 0 +/+ +/+ . 3 ENST00000356634 . translocation 0.00625 1173_KQG Arriba
fp_audit 1173_LAF fusion DYRK1A--ERG DYRK1A--ERG DYRK1A--ERG FP FP Arriba dev_rna_exp0016 1173_LAF altera_exact 1173 clinical patient lung Lung 46 unknown False 1173_LAF_T1_RNA_SLD_01 tRNA altera_inhouse ssf 24.10 38.00 27.34 AIH_Ext13_RNA A03 False dev_rna_exp0016_lib_s33 200.00 36.67 dev_rna_exp0016 A05 False 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 DYRK1A ERG 37420384 38445621 chr21:37420384-chr21:38445621 +,- Arriba 1 0 1 1 PASS out-of-frame DYRK1A--ERG DYRK1A--ERG confidence:low;duplicates(4) low inversion CDS/splice-site CDS/splice-site 775 574 4.0 0.0 0.0 0.0 0 1 False duplicates(4) FAIL False chr21:37420384 chr21:38445621 chr21:37420384-chr21:38445621 . . low 775 574 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(4) CTTGAAAGAAGACGATGCATACAG|GAAGCCTTATCAGTTGTGAGTGAGGACCAGTCGTTGTTTGAGTGTGCC DYRK1A ERG ENSG00000157540 ENSG00000157554 MHT|gslisce* LH00995:25:23T55JLT4:1:1172:37526:14073,LH00995:25:23T55JLT4:1:1287:26945:15110,LH00995:25:23T55JLT4:3:1206:43537:11313,LH00995:25:23T55JLT4:5:2498:18685:27063,LH00995:25:23T55JLT4:7:1268:25124:3466 out-of-frame |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000647188 ENST00000442448 inversion 0.0 0.0017391304347826088 0.0008695652173913044 1173_LAF Arriba
fp_audit 1173_LAF fusion DYRK1A--ERG DYRK1A--ERG DYRK1A--ERG FP FP Arriba dev_rna_exp0016 1173_LAF altera_exact 1173 clinical patient lung Lung 46 unknown False 1173_LAF_T1_RNA_SLD_01 tRNA altera_inhouse ssf 24.10 38.00 27.34 AIH_Ext13_RNA A03 False dev_rna_exp0016_lib_s33 200.00 36.67 dev_rna_exp0016 A05 False 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 DYRK1A ERG 37420384 38445621 chr21:37420384-chr21:38445621 +,- STAR-Fusion 1 0 1 0.0125 1 FAIL out-of-frame DYRK1A--ERG DYRK1A--ERG "[""INTRACHROMOSOMAL[chr21:0.85Mb]""]" ONLY_REF_SPLICE NO_LDAS 1.8892 False False False GT AG 1 False Read count too low: 1 < 8 0 ENST00000398956.2 1-10 ENST00000417133.6 40-1461 0.0125 FAIL atgcatacagGAAGCCTTATCAGTTGTGAGTGAGGACCAGTCGTTGTTTGAGTGTGCCTACGGAACGCCACACCTGGCTAAGACAGAGATGACCGCGTCCTCCTCCAGCGACTATGGACAGACTTCCAAGATGAGCCCACGCGTCCCTCAGCAGGATTGGCTGTCTCAACCCCCAGCCAGGGTCACCATCAAAATGGAATGTAACCCTAGCCAGGTGAATGGCTCAAGGAACTCTCCTGATGAATGCAGTGTGGCCAAAGGCGGGAAGATGGTGGGCAGCCCAGACACCGTTGGGATGAACTACGGCAGCTACATGGAGGAGAAGCACATGCCACCCCCAAACATGACCACGAACGAGCGCAGAGTTATCGTGCCAGCAGATCCTACGCTATGGAGTACAGACCATGTGCGGCAGTGGCTGGAGTGGGCGGTGAAAGAATATGGCCTTCCAGACGTCAACATCTTGTTATTCCAGAACATCGATGGGAAGGAACTGTGCAAGATGACCAAGGACGACTTCCAGAGGCTCACCCCCAGCTACAACGCCGACATCCTTCTCTCACATCTCCACTACCTCAGAGAGACTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAGGGGGTGCAGCTTTTATTTTCCCAAATACTTCAGTATATCCTGAAGCTACGCAAAGAATTACAACTAGGCCAGATTTACCATATGAGCCCCCCAGGAGATCAGCCTGGACCGGTCACGGCCACCCCACGCCCCAGTCGAAAGCTGCTCAACCATCTCCTTCCACAGTGCCCAAAACTGAAGACCAGCGTCCTCAGTTAGATCCTTATCAGATTCTTGGACCAACAAGTAGCCGCCTTGCAAATCCAGGCAGTGGCCAGATCCAGCTTTGGCAGTTCCTCCTGGAGCTCCTGTCGGACAGCTCCAACTCCAGCTGCATCACCTGGGAAGGCACCAACGGGGAGTTCAAGATGACGGATCCCGACGAGGTGGCCCGGCGCTGGGGAGAGCGGAAGAGCAAACCCAACATGAACTACGATAAGCTCAGCCGCGCCCTCCGTTACTACTATGACAAGAACATCATGACCAAGGTCCATGGGAAGCGCTACGCCTACAAGTTCGACTTCCACGGGATCGCCCAGGCCCTCCAGCCCCACCCCCCGGAGTCATCTCTGTACAAGTACCCCTCAGACCTCCCGTACATGGGCTCCTATCACGCCCACCCACAGAAGATGAACTTTGTGGCGCCCCACCCTCCAGCCCTCCCCGTGACATCTTCCAGTTTTTTTGCTGCCCCAAACCCATACTGGAATTCACCAACTGGGGGTATATACCCCAACACTAGGCTCCCCACCAGCCATATGCCTTCTCATCTGGGCACTTACTACTAA chr21|+|[0]37420375-37420384[0]<==>chr21|-|[2]38383403-38383923[1]|[0]38390995-38391042[1]|[0]38391659-38391715[1]|[0]38392376-38392444[1]|[0]38400574-38400645[1]|[0]38402557-38402637[1]|[0]38403506-38403709[1]|[0]38423410-38423561[2]|[1]38445404-38445621[0] MHTGSLISCE*GPVVV*VCLRNATPG*DRDDRVLLQRLWTDFQDEPTRPSAGLAVSTPSQGHHQNGM*P*PGEWLKELS**MQCGQRREDGGQPRHRWDELRQLHGGEAHATPKHDHERAQSYRASRSYAMEYRPCAAVAGVGGERIWPSRRQHLVIPEHRWEGTVQDDQGRLPEAHPQLQRRHPSLTSPLPQRDSSSTFDFR*C**SLTKLSTVNAC*KHRGCSFYFPKYFSIS*SYAKNYN*ARFTI*APQEISLDRSRPPHAPVESCSTISFHSAQN*RPASSVRSLSDSWTNK*PPCKSRQWPDPALAVPPGAPVGQLQLQLHHLGRHQRGVQDDGSRRGGPALGRAEEQTQHELR*AQPRPPLLL*QEHHDQGPWEALRLQVRLPRDRPGPPAPPPGVISVQVPLRPPVHGLLSRPPTEDELCGAPPSSPPRDIFQFFCCPKPILEFTNWGYIPQH*APHQPYAFSSGHLLL DYRK1A--ERG 1 LH00995:25:23T55JLT4:1:1172:37526:14073 NO_LDAS GT 1.8892 chr21:37420384:+ DYRK1A^ENSG00000157540.22 . SAM_PNT|123-204|1.4e-29^Arb2|138-171|4e-05^SAM_1|141-186|4e-05^SAM_3|143-200|1.3e-05^Ets|319-397|1.2e-38 FRAMESHIFT AG 1.9656 chr21:38445621:- ERG^ENSG00000157554.19 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr21:0.85Mb]""]" False chr21:37420384-chr21:38445621 1.0 0.0 Read count too low: 1 < 8 1 1173_LAF STAR-Fusion
fp_audit 1173_LAF fusion DYRK1A--ERG DYRK1A--ERG DYRK1A--ERG FP FP Arriba dev_rna_exp0016 1173_LAF altera_exact 1173 clinical patient lung Lung 46 unknown False 1173_LAF_T1_RNA_SLD_01 tRNA altera_inhouse ssf 24.10 38.00 27.34 AIH_Ext13_RNA A03 False dev_rna_exp0016_lib_s33 200.00 36.67 dev_rna_exp0016 A05 False 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 DYRK1A ERG 37366943 38445621 chr21:37366943-chr21:38445621 +,- STAR-Fusion 1 0 1 0.0125 1 FAIL DYRK1A--ERG DYRK1A--ERG "[""INTRACHROMOSOMAL[chr21:0.85Mb]""]" INCL_NON_REF_SPLICE YES_LDAS 1.8323 False False False GT AG 1 Read count too low: 1 < 8 0 . . . . 0.0125 FAIL . . . DYRK1A--ERG 1 LH00995:25:23T55JLT4:1:2197:16055:5218 YES_LDAS GT 1.8323 chr21:37366943:+ DYRK1A^ENSG00000157540.22 . . . AG 1.9656 chr21:38445621:- ERG^ENSG00000157554.19 0 . INCL_NON_REF_SPLICE "[""INTRACHROMOSOMAL[chr21:0.85Mb]""]" False chr21:37366943-chr21:38445621 1.0 0.0 Read count too low: 1 < 8 1 1173_LAF STAR-Fusion
fp_audit 1173_LAF fusion DYRK1A--ERG DYRK1A--ERG DYRK1A--ERG FP FP Arriba dev_rna_exp0016 1173_LAF altera_exact 1173 clinical patient lung Lung 46 unknown False 1173_LAF_T1_RNA_SLD_01 tRNA altera_inhouse ssf 24.10 38.00 27.34 AIH_Ext13_RNA A03 False dev_rna_exp0016_lib_s33 200.00 36.67 dev_rna_exp0016 A05 False 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 DYRK1A ERG 37420384 38445621 chr21:37420384-chr21:38445621 +,- Arriba 1 0 1 1 PASS out-of-frame DYRK1A--ERG DYRK1A--ERG confidence:low;duplicates(4) low inversion CDS/splice-site CDS/splice-site 775 574 4.0 0.0 0.0 0.0 0 1 False duplicates(4) FAIL False chr21:37420384 chr21:38445621 chr21:37420384-chr21:38445621 . . low 775 574 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(4) CTTGAAAGAAGACGATGCATACAG|GAAGCCTTATCAGTTGTGAGTGAGGACCAGTCGTTGTTTGAGTGTGCC DYRK1A ERG ENSG00000157540 ENSG00000157554 MHT|gslisce* LH00995:25:23T55JLT4:1:1172:37526:14073,LH00995:25:23T55JLT4:1:1287:26945:15110,LH00995:25:23T55JLT4:3:1206:43537:11313,LH00995:25:23T55JLT4:5:2498:18685:27063,LH00995:25:23T55JLT4:7:1268:25124:3466 out-of-frame |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000647188 ENST00000442448 inversion 0.0 0.0017391304347826088 0.0008695652173913044 1173_LAF Arriba
fp_audit 1173_LAF fusion DYRK1A--ERG DYRK1A--ERG DYRK1A--ERG FP FP Arriba dev_rna_exp0016 1173_LAF altera_exact 1173 clinical patient lung Lung 46 unknown False 1173_LAF_T1_RNA_SLD_01 tRNA altera_inhouse ssf 24.10 38.00 27.34 AIH_Ext13_RNA A03 False dev_rna_exp0016_lib_s33 200.00 36.67 dev_rna_exp0016 A05 False 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 DYRK1A ERG 37420384 38445621 chr21:37420384-chr21:38445621 +,- STAR-Fusion 1 0 1 0.0125 1 FAIL out-of-frame DYRK1A--ERG DYRK1A--ERG "[""INTRACHROMOSOMAL[chr21:0.85Mb]""]" ONLY_REF_SPLICE NO_LDAS 1.8892 False False False GT AG 1 False Read count too low: 1 < 8 0 ENST00000398956.2 1-10 ENST00000417133.6 40-1461 0.0125 FAIL atgcatacagGAAGCCTTATCAGTTGTGAGTGAGGACCAGTCGTTGTTTGAGTGTGCCTACGGAACGCCACACCTGGCTAAGACAGAGATGACCGCGTCCTCCTCCAGCGACTATGGACAGACTTCCAAGATGAGCCCACGCGTCCCTCAGCAGGATTGGCTGTCTCAACCCCCAGCCAGGGTCACCATCAAAATGGAATGTAACCCTAGCCAGGTGAATGGCTCAAGGAACTCTCCTGATGAATGCAGTGTGGCCAAAGGCGGGAAGATGGTGGGCAGCCCAGACACCGTTGGGATGAACTACGGCAGCTACATGGAGGAGAAGCACATGCCACCCCCAAACATGACCACGAACGAGCGCAGAGTTATCGTGCCAGCAGATCCTACGCTATGGAGTACAGACCATGTGCGGCAGTGGCTGGAGTGGGCGGTGAAAGAATATGGCCTTCCAGACGTCAACATCTTGTTATTCCAGAACATCGATGGGAAGGAACTGTGCAAGATGACCAAGGACGACTTCCAGAGGCTCACCCCCAGCTACAACGCCGACATCCTTCTCTCACATCTCCACTACCTCAGAGAGACTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAGGGGGTGCAGCTTTTATTTTCCCAAATACTTCAGTATATCCTGAAGCTACGCAAAGAATTACAACTAGGCCAGATTTACCATATGAGCCCCCCAGGAGATCAGCCTGGACCGGTCACGGCCACCCCACGCCCCAGTCGAAAGCTGCTCAACCATCTCCTTCCACAGTGCCCAAAACTGAAGACCAGCGTCCTCAGTTAGATCCTTATCAGATTCTTGGACCAACAAGTAGCCGCCTTGCAAATCCAGGCAGTGGCCAGATCCAGCTTTGGCAGTTCCTCCTGGAGCTCCTGTCGGACAGCTCCAACTCCAGCTGCATCACCTGGGAAGGCACCAACGGGGAGTTCAAGATGACGGATCCCGACGAGGTGGCCCGGCGCTGGGGAGAGCGGAAGAGCAAACCCAACATGAACTACGATAAGCTCAGCCGCGCCCTCCGTTACTACTATGACAAGAACATCATGACCAAGGTCCATGGGAAGCGCTACGCCTACAAGTTCGACTTCCACGGGATCGCCCAGGCCCTCCAGCCCCACCCCCCGGAGTCATCTCTGTACAAGTACCCCTCAGACCTCCCGTACATGGGCTCCTATCACGCCCACCCACAGAAGATGAACTTTGTGGCGCCCCACCCTCCAGCCCTCCCCGTGACATCTTCCAGTTTTTTTGCTGCCCCAAACCCATACTGGAATTCACCAACTGGGGGTATATACCCCAACACTAGGCTCCCCACCAGCCATATGCCTTCTCATCTGGGCACTTACTACTAA chr21|+|[0]37420375-37420384[0]<==>chr21|-|[2]38383403-38383923[1]|[0]38390995-38391042[1]|[0]38391659-38391715[1]|[0]38392376-38392444[1]|[0]38400574-38400645[1]|[0]38402557-38402637[1]|[0]38403506-38403709[1]|[0]38423410-38423561[2]|[1]38445404-38445621[0] MHTGSLISCE*GPVVV*VCLRNATPG*DRDDRVLLQRLWTDFQDEPTRPSAGLAVSTPSQGHHQNGM*P*PGEWLKELS**MQCGQRREDGGQPRHRWDELRQLHGGEAHATPKHDHERAQSYRASRSYAMEYRPCAAVAGVGGERIWPSRRQHLVIPEHRWEGTVQDDQGRLPEAHPQLQRRHPSLTSPLPQRDSSSTFDFR*C**SLTKLSTVNAC*KHRGCSFYFPKYFSIS*SYAKNYN*ARFTI*APQEISLDRSRPPHAPVESCSTISFHSAQN*RPASSVRSLSDSWTNK*PPCKSRQWPDPALAVPPGAPVGQLQLQLHHLGRHQRGVQDDGSRRGGPALGRAEEQTQHELR*AQPRPPLLL*QEHHDQGPWEALRLQVRLPRDRPGPPAPPPGVISVQVPLRPPVHGLLSRPPTEDELCGAPPSSPPRDIFQFFCCPKPILEFTNWGYIPQH*APHQPYAFSSGHLLL DYRK1A--ERG 1 LH00995:25:23T55JLT4:1:1172:37526:14073 NO_LDAS GT 1.8892 chr21:37420384:+ DYRK1A^ENSG00000157540.22 . SAM_PNT|123-204|1.4e-29^Arb2|138-171|4e-05^SAM_1|141-186|4e-05^SAM_3|143-200|1.3e-05^Ets|319-397|1.2e-38 FRAMESHIFT AG 1.9656 chr21:38445621:- ERG^ENSG00000157554.19 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr21:0.85Mb]""]" False chr21:37420384-chr21:38445621 1.0 0.0 Read count too low: 1 < 8 1 1173_LAF STAR-Fusion
fp_audit 1173_LAF fusion DYRK1A--ERG DYRK1A--ERG DYRK1A--ERG FP FP Arriba dev_rna_exp0016 1173_LAF altera_exact 1173 clinical patient lung Lung 46 unknown False 1173_LAF_T1_RNA_SLD_01 tRNA altera_inhouse ssf 24.10 38.00 27.34 AIH_Ext13_RNA A03 False dev_rna_exp0016_lib_s33 200.00 36.67 dev_rna_exp0016 A05 False 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 DYRK1A ERG 37366943 38445621 chr21:37366943-chr21:38445621 +,- STAR-Fusion 1 0 1 0.0125 1 FAIL DYRK1A--ERG DYRK1A--ERG "[""INTRACHROMOSOMAL[chr21:0.85Mb]""]" INCL_NON_REF_SPLICE YES_LDAS 1.8323 False False False GT AG 1 Read count too low: 1 < 8 0 . . . . 0.0125 FAIL . . . DYRK1A--ERG 1 LH00995:25:23T55JLT4:1:2197:16055:5218 YES_LDAS GT 1.8323 chr21:37366943:+ DYRK1A^ENSG00000157540.22 . . . AG 1.9656 chr21:38445621:- ERG^ENSG00000157554.19 0 . INCL_NON_REF_SPLICE "[""INTRACHROMOSOMAL[chr21:0.85Mb]""]" False chr21:37366943-chr21:38445621 1.0 0.0 Read count too low: 1 < 8 1 1173_LAF STAR-Fusion
fp_audit 1173_LQD fusion PAX3--RPL23AP28 PAX3--RPL23AP28 PAX3--RPL23AP28 FP FP Arriba dev_rna_exp0016 1173_LQD altera_exact 1173 clinical patient skin Skin 62 unknown False 1173_LQD_T1_RNA_SLD_01 tRNA altera_inhouse ssf 69.30 38.00 53.65 AIH_Ext13_RNA D05 False dev_rna_exp0016_lib_s52 200.00 82.54 dev_rna_exp0016 D07 False 1173_LQD_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_LQD_T1_RNA_SLD_01_A23T55JLT4_1 BND chr2 chr2 PAX3 RPL23AP28 222220140 222116882 chr2:222220140-chr2:222116882 -,- Arriba 1 0 5 5 PASS out-of-frame PAX3--RPL23AP28 PAX3--RPL23AP28 confidence:low;duplicates(7) low deletion/read-through CDS/splice-site intergenic 5608 12 7.0 0.0 0.0 0.0 4 1 False duplicates(7) FAIL False chr2:222220140 chr2:222116882 chr2:222220140-chr2:222116882 . . low 5608 12 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(5.0<8.0) duplicates(7) TCTGCCTACTGCCTCCCCAGCACCAGGCATGGATTTTCCAGCTATACAGACAGCTTTGTGCCTCCGTCGGGGCCCTCCAACCCCATGAACCCCACCATTGGCAATGGCCTCTCACCTCAG|ATGATGAACTGAGACCAAGAAAAGACCCACTAAAGATCAAAAATTG___CAGAGAACAATATTTCAAGAGGTACGTCTTGGACATAAAC PAX3 RPL23AP28(71888),PAX3(83005) ENSG00000135903 . SAYCLPSTRHGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQ|mmn* LH00995:25:23T55JLT4:3:2391:43100:9660,LH00995:25:23T55JLT4:2:1265:27220:8721,LH00995:25:23T55JLT4:2:2437:17318:19847,LH00995:25:23T55JLT4:3:1117:24963:19636,LH00995:25:23T55JLT4:3:2414:17415:11747,LH00995:25:23T55JLT4:5:1320:37737:15699,LH00995:25:23T55JLT4:5:1386:38966:26236,LH00995:25:23T55JLT4:5:1426:41806:11986,LH00995:25:23T55JLT4:6:1205:39848:3718,LH00995:25:23T55JLT4:6:1369:33247:20869,LH00995:25:23T55JLT4:8:2376:25084:9477,LH00995:25:23T55JLT4:8:2423:29202:17254 out-of-frame 'Paired_box'_domain(100%),Homeodomain(100%),Paired_box_protein_7_(100%)| CDS/splice-site intergenic 4 1 -/- ./- . 5 ENST00000392070 . deletion/read-through 0.0007127583749109052 0.07692307692307693 0.038817917648993915 1173_LQD Arriba
fp_audit 1173_M4Y fusion ERBB2--NEUROD2 ERBB2--NEUROD2 ERBB2--NEUROD2 FP FP Arriba dev_rna_exp0016 1173_M4Y altera_exact 1173 clinical patient esophageal Esophageal 63 unknown False 1173_M4Y_T1_RNA_SLD_01 tRNA altera_inhouse ssf 25.30 38.00 30.69 AIH_Ext13_RNA F04 False dev_rna_exp0016_lib_s46 200.00 13.52 dev_rna_exp0016 F06 False 1173_M4Y_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M4Y_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 NEUROD2 39715520 39618997 chr17:39715520-chr17:39618997 +,- Arriba 1 0 135 135 PASS out-of-frame ERBB2--NEUROD2 ERBB2--NEUROD2 confidence:medium;duplicates(452),mismatches(9) medium inversion CDS intergenic 65535 272 452.0 9.0 0.0 0.0 115 20 False duplicates(452),mismatches(9) FAIL False chr17:39715520 chr17:39618997 chr17:39715520-chr17:39618997 . . medium 65535 272 downstream downstream 0 confidence_below_min(medium<high) duplicates(452),mismatches(9) CTCACCCTCTGCCTGCAGGTTACCTATACATCTCAGCATGGCCGGACAGCCTGCCTGACCTCAGCGTCTTCCAGAACCTGCAAGTAATCCGGG|AAGAGGGGTGGGAGCTAAGATTTGCCTGTCCTGTGCCTCAGTTTACTCc ERBB2 NEUROD2(9220),AC087491.1(616) ENSG00000141736 . hplpaGYLYISAWPDSLPDLSVFQNLQVIR|eegwelrfacpvpqft 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LT4:2:1123:1178:24989,LH00995:25:23T55JLT4:2:1134:9559:6969,LH00995:25:23T55JLT4:2:1135:45746:27637,LH00995:25:23T55JLT4:2:1136:1202:2359,LH00995:25:23T55JLT4:2:1140:36272:16918,LH00995:25:23T55JLT4:2:1143:14494:9828,LH00995:25:23T55JLT4:2:1143:14502:9842,LH00995:25:23T55JLT4:2:1144:51490:16904,LH00995:25:23T55JLT4:2:1151:24946:20925,LH00995:25:23T55JLT4:2:1152:1744:16273,LH00995:25:23T55JLT4:2:1153:48504:4503,LH00995:25:23T55JLT4:2:1154:48124:28562,LH00995:25:23T55JLT4:2:1155:34654:22915,LH00995:25:23T55JLT4:2:1161:47420:6213,LH00995:25:23T55JLT4:2:1163:32907:22215,LH00995:25:23T55JLT4:2:1173:6792:21934,LH00995:25:23T55JLT4:2:1174:6631:21626,LH00995:25:23T55JLT4:2:1177:12771:23462,LH00995:25:23T55JLT4:2:1177:21751:8272,LH00995:25:23T55JLT4:2:1178:22163:11958,LH00995:25:23T55JLT4:2:1183:33627:14914,LH00995:25:23T55JLT4:2:1190:42720:1546,LH00995:25:23T55JLT4:2:1195:4543:19468,LH00995:25:23T55JLT4:2:1197:31823:26502,LH00995:25:23T55JLT4:2:1202:19615:13009,LH00995:25:23T55JLT4:2:1203:26540:16147,LH00995:25:23T55JLT4:2:1213:49985:2331,LH00995:25:23T55JLT4:2:1216:31871:22635,LH00995:25:23T55JLT4:2:1221:18353:17661,LH00995:25:23T55JLT4:2:1222:21039:7235,LH00995:25:23T55JLT4:2:1223:32931:16203,LH00995:25:23T55JLT4:2:1226:12876:16554,LH00995:25:23T55JLT4:2:1228:36531:16582,LH00995:25:23T55JLT4:2:1229:17487:23952,LH00995:25:23T55JLT4:2:1230:47056:18529,LH00995:25:23T55JLT4:2:1230:49864:24877,LH00995:25:23T55JLT4:2:1236:34476:26166,LH00995:25:23T55JLT4:2:1245:20909:29347,LH00995:25:23T55JLT4:2:1250:14939:29571,LH00995:25:23T55JLT4:2:1264:50786:7109,LH00995:25:23T55JLT4:2:1268:14575:2037,LH00995:25:23T55JLT4:2:1269:11727:14200,LH00995:25:23T55JLT4:2:1272:11234:13485,LH00995:25:23T55JLT4:2:1274:29436:25451,LH00995:25:23T55JLT4:2:1275:37809:1617,LH00995:25:23T55JLT4:2:1277:7197:13779,LH00995:25:23T55JLT4:2:1278:3233:23588,LH00995:25:23T55JLT4:2:1280:28967:7544,LH00995:25:23T55JLT4:2:1286:23628:10682,LH00995:25:23T55JLT4:2:1287:43917:24358,LH00995:25:23T55JLT4:2:1291:25488:24667,LH00995:25:23T55JLT4:2:1302:15335:2906,LH00995:25:23T55JLT4:2:1307:27835:23938,LH00995:25:23T55JLT4:2:1309:20554:17492,LH00995:25:23T55JLT4:2:1311:22673:29487,LH00995:25:23T55JLT4:2:1311:22681:29501,LH00995:25:23T55JLT4:2:1314:28749:8903,LH00995:25:23T55JLT4:2:1314:44298:2177,LH00995:25:23T55JLT4:2:1316:24979:23308,LH00995:25:23T55JLT4:2:1319:32899:10122,LH00995:25:23T55JLT4:2:1319:34646:20379,LH00995:25:23T55JLT4:2:1320:22099:27315,LH00995:25:23T55JLT4:2:1320:22107:27329,LH00995:25:23T55JLT4:2:1320:4446:27231,LH00995:25:23T55JLT4:2:1323:50689:18151,LH00995:25:23T55JLT4:2:1378:43610:9449,LH00995:25:23T55JLT4:2:1466:40471:27413,LH00995:25:23T55JLT4:2:2152:7124:11355,LH00995:25:23T55JLT4:2:2186:7974:14031,LH00995:25:23T55JLT4:2:2208:14915:9155,LH00995:25:23T55JLT4:2:2211:37858:15433,LH00995:25:23T55JLT4:2:2243:43432:18473,LH00995:25:23T55JLT4:2:2252:22657:29347,LH00995:25:23T55JLT4:2:2428:50988:13569,LH00995:25:23T55JLT4:3:1320:26200:24947,LH00995:25:23T55JLT4:3:1454:2869:20575,LH00995:25:23T55JLT4:3:2235:25626:25213,LH00995:25:23T55JLT4:3:2321:12383:29683,LH00995:25:23T55JLT4:4:1119:17673:29571,LH00995:25:23T55JLT4:4:1150:44726:19314,LH00995:25:23T55JLT4:4:1460:9802:12518,LH00995:25:23T55JLT4:4:1475:13823:20183,LH00995:25:23T55JLT4:4:2260:17940:10276,LH00995:25:23T55JLT4:4:2262:42429:23966,LH00995:25:23T55JLT4:4:2408:20408:24050,LH00995:25:23T55JLT4:5:1468:15335:7502,LH00995:25:23T55JLT4:5:2202:1777:4867,LH00995:25:23T55JLT4:5:2232:30189:11509,LH00995:25:23T55JLT4:5:2319:30399:19076 out-of-frame Furin-like_cysteine_rich_region(100%),Receptor_L_domain(78%)| CDS intergenic 115 20 +/+ ./- . 135 ENST00000584601 . inversion 0.0017517136329017516 0.0684931506849315 0.035122432158916625 1173_M4Y Arriba
fp_audit 1173_M4Y fusion ERBB2--PPP1R1B ERBB2--PPP1R1B ERBB2--PPP1R1B FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_M4Y altera_exact 1173 clinical patient esophageal Esophageal 63 unknown False 1173_M4Y_T1_RNA_SLD_01 tRNA altera_inhouse ssf 25.30 38.00 30.69 AIH_Ext13_RNA F04 False dev_rna_exp0016_lib_s46 200.00 13.52 dev_rna_exp0016 F06 False 1173_M4Y_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M4Y_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 PPP1R1B 39715510 39627306 chr17:39715510-chr17:39627306 +,+ Arriba 1 0 600 600 PASS in-frame ERBB2--PPP1R1B ERBB2--PPP1R1B confidence:high;duplicates(172),mismatches(1) high duplication CDS 5'UTR/splice-site 65535 47658 172.0 1.0 0.0 0.0 300 300 True duplicates(172),mismatches(1) PASS False chr17:39715510 chr17:39627306 chr17:39715510-chr17:39627306 . . high 65535 47658 downstream upstream 0 duplicates(172),mismatches(1) AGCAGCTCCAAGTGTTTGAGACTCTGGAAGAGATCACAG___GTTACCTATACATCTCAGCATGGCCGGACAGCCTGCCTGACCTCAGCGTCTTCCAGAACCTGCAA|CCCGCCGCCTGCGCGGGGGAGCCCAGCACAGACCGCCGCCGGGACCCCGAGTCGCGCACCCCAGCCCCACCGCCCACCCCGCGCGCCATGGACCCC ERBB2 PPP1R1B ENSG00000141736 ENSG00000131771 QLQVFETLEEITGYLYISAWPDSLPDLSVFQNLQ|paacagepstdrrrdpesrtpappptpraMD 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:1:1258:32616:25858,LH00995:25:23T55JLT4:1:1259:26856:12098,LH00995:25:23T55JLT4:1:1261:13701:6717,LH00995:25:23T55JLT4:1:1261:27406:14676,LH00995:25:23T55JLT4:1:1262:20060:19552,LH00995:25:23T55JLT4:1:1262:4568:4797,LH00995:25:23T55JLT4:1:1263:33303:6451,LH00995:25:23T55JLT4:1:1263:4001:5554,LH00995:25:23T55JLT4:1:1263:51627:5484,LH00995:25:23T55JLT4:1:1265:29857:27946,LH00995:25:23T55JLT4:1:1268:17568:27904,LH00995:25:23T55JLT4:1:1270:41329:28114,LH00995:25:23T55JLT4:1:1271:1388:12070,LH00995:25:23T55JLT4:1:1271:9583:12364 in-frame Furin-like_cysteine_rich_region(100%),Receptor_L_domain(76%)|Protein_phosphatase_inhibitor_1/DARPP-32(100%) CDS 5'UTR/splice-site 300 300 +/+ +/+ . 600 ENST00000584601 ENST00000580825 duplication 0.00455684666210982 0.006255473539346928 0.005406160100728374 1173_M4Y Arriba
fp_audit 1173_M4Y fusion ERBB2--PPP1R1B ERBB2--PPP1R1B ERBB2--PPP1R1B FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_M4Y altera_exact 1173 clinical patient esophageal Esophageal 63 unknown False 1173_M4Y_T1_RNA_SLD_01 tRNA altera_inhouse ssf 25.30 38.00 30.69 AIH_Ext13_RNA F04 False dev_rna_exp0016_lib_s46 200.00 13.52 dev_rna_exp0016 F06 False 1173_M4Y_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M4Y_T1_RNA_SLD_01_A23T55JLT4_1 BND chr17 chr17 ERBB2 PPP1R1B 39715510 39627306 chr17:39715510-chr17:39627306 +,+ STAR-Fusion 1 0 2334 15.7762 2334 PASS ERBB2--PPP1R1B ERBB2--PPP1R1B "[""GUO2018CR_TCGA"",""DEEPEST2019"",""TumorFusionsNAR2018"",""ChimerSeq"",""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr17:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[51288]""]" INCL_NON_REF_SPLICE YES_LDAS 1.231 False False False GT AG 2334 TCGA_StarF2019;ChimerSeq;DEEPEST2019;GUO2018;TumorFusionsNAR2018 1 . . . . 15.7762 PASS . . . ERBB2--PPP1R1B 2334 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YES_LDAS GT 1.9086 chr17:39715510:+ ERBB2^ENSG00000141736.14 . . . AG 1.231 chr17:39627306:+ PPP1R1B^ENSG00000131771.14 0 . INCL_NON_REF_SPLICE "[""GUO2018CR_TCGA"",""DEEPEST2019"",""TumorFusionsNAR2018"",""ChimerSeq"",""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr17:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[51288]""]" False chr17:39715510-chr17:39627306 2334.0 0.0 2334 1173_M4Y STAR-Fusion
fp_audit 1173_M4Y fusion NOTCH2--NOTCH2P1 NOTCH2--NOTCH2P1 NOTCH2--NOTCH2P1 FP FP Arriba dev_rna_exp0016 1173_M4Y altera_exact 1173 clinical patient esophageal Esophageal 63 unknown False 1173_M4Y_T1_RNA_SLD_01 tRNA altera_inhouse ssf 25.30 38.00 30.69 AIH_Ext13_RNA F04 False dev_rna_exp0016_lib_s46 200.00 13.52 dev_rna_exp0016 F06 False 1173_M4Y_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M4Y_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 NOTCH2 NOTCH2P1 119923637 119887924 chr1:119923637-chr1:119887924 -,- Arriba 1 0 14 14 PASS out-of-frame NOTCH2--NOTCH2P1 NOTCH2--NOTCH2P1 confidence:high;duplicates(97),mismappers(1),mismatches(1) high deletion/read-through CDS/splice-site intergenic 369 112 97.0 1.0 1.0 0.0 10 4 False duplicates(97),mismappers(1),mismatches(1) PASS False chr1:119923637 chr1:119887924 chr1:119923637-chr1:119887924 . . high 369 112 upstream downstream 0 duplicates(97),mismappers(1),mismatches(1) CATGGTGTACCCCTATTATGGTGAGAAGTCAGCTGCTATGAAGAAACAGAGGATGACACGCAGATCCCTTCCTGGTGAACAAGAACAGGAGGTGGCTGG|GTGACTGTGCTGCACTGCATCCATGAGATCCCAAGACCAGTATGTGGAAATCCAGTCTTCTATGGAGTCCTTTCAGAAAAGTTGACACCAACCCCCT NOTCH2 NOTCH2P1(997),ADAM30(5609) ENSG00000134250 . MVYPYYGEKSAAMKKQRMTRRSLPGEQEQEVAg|* LH00995:25:23T55JLT4:1:1105:14454:6143,LH00995:25:23T55JLT4:1:2127:52007:26404,LH00995:25:23T55JLT4:2:2307:41304:3494,LH00995:25:23T55JLT4:2:2367:35989:4237,LH00995:25:23T55JLT4:3:2298:25844:3424,LH00995:25:23T55JLT4:5:1118:19203:20141,LH00995:25:23T55JLT4:5:1425:44128:1154,LH00995:25:23T55JLT4:5:1490:14615:14662,LH00995:25:23T55JLT4:5:2225:11242:27119,LH00995:25:23T55JLT4:5:2225:12690:24106,LH00995:25:23T55JLT4:5:2390:18062:1126,LH00995:25:23T55JLT4:5:2466:23644:26096,LH00995:25:23T55JLT4:5:2489:37898:5414,LH00995:25:23T55JLT4:6:1230:9495:27231,LH00995:25:23T55JLT4:6:2114:1291:24513,LH00995:25:23T55JLT4:6:2292:47655:19538,LH00995:25:23T55JLT4:8:2120:20877:15727,LH00995:25:23T55JLT4:1:1238:48254:16091,LH00995:25:23T55JLT4:1:1239:14437:24583,LH00995:25:23T55JLT4:1:1239:14882:24681,LH00995:25:23T55JLT4:1:1392:1963:18529,LH00995:25:23T55JLT4:1:2103:6081:13807,LH00995:25:23T55JLT4:1:2121:5013:18095,LH00995:25:23T55JLT4:1:2401:10053:28058,LH00995:25:23T55JLT4:1:2453:16452:27848,LH00995:25:23T55JLT4:2:1172:28061:2303,LH00995:25:23T55JLT4:2:1181:18191:22369,LH00995:25:23T55JLT4:2:1323:29760:23378,LH00995:25:23T55JLT4:2:1352:5320:7782,LH00995:25:23T55JLT4:2:1353:9527:14172,LH00995:25:23T55JLT4:2:1449:30682:28058,LH00995:25:23T55JLT4:2:2123:2432:16259,LH00995:25:23T55JLT4:2:2195:33174:12196,LH00995:25:23T55JLT4:2:2216:33247:28268,LH00995:25:23T55JLT4:2:2245:33117:21374,LH00995:25:23T55JLT4:2:2350:40665:20043,LH00995:25:23T55JLT4:2:2429:46555:3424,LH00995:25:23T55JLT4:2:2444:22196:25634,LH00995:25:23T55JLT4:2:2478:36200:24751,LH00995:25:23T55JLT4:3:1125:6420:12182,LH00995:25:23T55JLT4:3:1173:26386:17394,LH00995:25:23T55JLT4:3:1206:34056:27763,LH00995:25:23T55JLT4:3:1249:3929:26979,LH00995:25:23T55JLT4:3:1272:38060:29235,LH00995:25:23T55JLT4:3:1293:17212:6801,LH00995:25:23T55JLT4:3:1316:9236:23308,LH00995:25:23T55JLT4:3:1375:46482:29025,LH00995:25:23T55JLT4:3:1477:12650:15685,LH00995:25:23T55JLT4:3:1498:15813:9533,LH00995:25:23T55JLT4:3:2118:14502:12952,LH00995:25:23T55JLT4:3:2153:46692:20954,LH00995:25:23T55JLT4:3:2181:49589:6773,LH00995:25:23T55JLT4:3:2213:37721:21808,LH00995:25:23T55JLT4:3:2271:19340:9982,LH00995:25:23T55JLT4:3:2303:16525:19174,LH00995:25:23T55JLT4:3:2328:21144:11874,LH00995:25:23T55JLT4:3:2412:11072:18277,LH00995:25:23T55JLT4:3:2417:46652:2527,LH00995:25:23T55JLT4:3:2435:40900:1112,LH00995:25:23T55JLT4:3:2474:26904:24765,LH00995:25:23T55JLT4:4:1104:1016:29109,LH00995:25:23T55JLT4:4:2118:37672:12981,LH00995:25:23T55JLT4:4:2221:38570:28016,LH00995:25:23T55JLT4:4:2244:11137:2415,LH00995:25:23T55JLT4:4:2317:11994:3957,LH00995:25:23T55JLT4:4:2389:50859:11467,LH00995:25:23T55JLT4:4:2458:13062:7908,LH00995:25:23T55JLT4:5:1164:49411:16301,LH00995:25:23T55JLT4:5:1254:1469:24064,LH00995:25:23T55JLT4:5:1278:4867:1560,LH00995:25:23T55JLT4:5:1343:37510:22229,LH00995:25:23T55JLT4:5:1347:6121:10486,LH00995:25:23T55JLT4:5:1362:1550:5988,LH00995:25:23T55JLT4:5:1382:23142:4713,LH00995:25:23T55JLT4:5:1449:8977:29025,LH00995:25:23T55JLT4:5:1460:1736:25872,LH00995:25:23T55JLT4:5:2162:26144:17815,LH00995:25:23T55JLT4:5:2192:42081:13919,LH00995:25:23T55JLT4:5:2257:47113:15937,LH00995:25:23T55JLT4:5:2350:37332:24499,LH00995:25:23T55JLT4:5:2366:11104:9141,LH00995:25:23T55JLT4:5:2387:5433:13387,LH00995:25:23T55JLT4:6:1187:28514:4097,LH00995:25:23T55JLT4:6:1284:48246:10220,LH00995:25:23T55JLT4:6:1346:36823:25073,LH00995:25:23T55JLT4:6:1366:34209:17100,LH00995:25:23T55JLT4:6:1371:17560:3564,LH00995:25:23T55JLT4:6:1451:32705:5302,LH00995:25:23T55JLT4:6:2113:1671:16484,LH00995:25:23T55JLT4:6:2141:20740:10248,LH00995:25:23T55JLT4:6:2206:31524:24134,LH00995:25:23T55JLT4:6:2360:40916:23532,LH00995:25:23T55JLT4:6:2364:47461:6002,LH00995:25:23T55JLT4:6:2433:9818:25465,LH00995:25:23T55JLT4:6:2482:8224:13261,LH00995:25:23T55JLT4:7:1114:38707:13821,LH00995:25:23T55JLT4:7:1125:46425:4293,LH00995:25:23T55JLT4:7:1180:30844:2639,LH00995:25:23T55JLT4:7:1235:43311:3746,LH00995:25:23T55JLT4:7:1427:16387:11986,LH00995:25:23T55JLT4:7:1444:43982:5078,LH00995:25:23T55JLT4:7:1474:18353:15783,LH00995:25:23T55JLT4:7:1475:15295:19734,LH00995:25:23T55JLT4:7:2345:28029:14101,LH00995:25:23T55JLT4:7:2469:37445:28282,LH00995:25:23T55JLT4:8:1112:48788:28983,LH00995:25:23T55JLT4:8:1264:19987:29291,LH00995:25:23T55JLT4:8:1272:44201:19608,LH00995:25:23T55JLT4:8:1287:25610:2709,LH00995:25:23T55JLT4:8:1411:41361:3200,LH00995:25:23T55JLT4:8:1487:31928:1266,LH00995:25:23T55JLT4:8:2177:17512:24751,LH00995:25:23T55JLT4:8:2347:16945:22985 out-of-frame Calcium-binding_EGF_domain(100%),EGF-like_domain(100%),Human_growth_factor-like_EGF(100%),LNR_domain(100%),NOTCH_protein(53%)| CDS/splice-site intergenic 10 4 -/- ./- . 14 ENST00000256646 . deletion/read-through 0.026385224274406333 0.034482758620689655 0.030433991447547992 1173_M4Y Arriba
fp_audit 1173_M5U fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_M5U altera_exact 1173 clinical patient breast Breast 77 unknown False 1173_M5U_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.60 35.00 47.84 AIH_Ext12_RNA D02 False dev_rna_exp0016_lib_s12 200.00 64.84 dev_rna_exp0016 D02 False 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 1210 991 1 0 False FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . low 1210 991 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 EIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:2:1104:16169:6899 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0008257638315441783 0.0 0.00041288191577208916 1173_M5U Arriba
fp_audit 1173_M5U fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_M5U altera_exact 1173 clinical patient breast Breast 77 unknown False 1173_M5U_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.60 35.00 47.84 AIH_Ext12_RNA D02 False dev_rna_exp0016_lib_s12 200.00 64.84 dev_rna_exp0016 D02 False 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243695591 243341039 chr1:243695591-chr1:243341039 -,+ Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 7687 409 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr1:243695591 chr1:243341039 chr1:243695591-chr1:243341039 . . low 7687 409 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) TGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA|ATGTTGATCTTGTCTCAGAATATTGCCCAACTGGAGGCCCAGGTGGAAAAGGTTACAAAGGAAAAGATTTCAG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 KTDGSFIGYKEKPQDVDLPYPLNNFSVA|nvdlvseycptggpggkgykgkdf LH00995:25:23T55JLT4:6:1112:38513:1154,LH00995:25:23T55JLT4:8:1442:50139:16470 out-of-frame PH_domain(51%)|Centrosomal_colon_cancer_autoantigen_protein_family(42%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000366541 inversion 0.00013007284079084288 0.0 6.503642039542144e-05 1173_M5U Arriba
fp_audit 1173_M5U fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_M5U altera_exact 1173 clinical patient breast Breast 77 unknown False 1173_M5U_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.60 35.00 47.84 AIH_Ext12_RNA D02 False dev_rna_exp0016_lib_s12 200.00 64.84 dev_rna_exp0016 D02 False 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243378863 243664883 chr1:243378863-chr1:243664883 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 1649 11116 1 0 False FAIL False chr1:243378863 chr1:243664883 chr1:243378863-chr1:243664883 . . low 1649 11116 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAG|AATGCCAGTTAATGAAAACAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 EQQKAALAREECLRLTELLGESEHQLHLTr|mpvnen LH00995:25:23T55JLT4:6:1486:25731:24583 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(76%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0006060606060606061 0.0 0.00030303030303030303 1173_M5U Arriba
fp_audit 1173_M5U fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_M5U altera_exact 1173 clinical patient breast Breast 77 unknown False 1173_M5U_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.60 35.00 47.84 AIH_Ext12_RNA D02 False dev_rna_exp0016_lib_s12 200.00 64.84 dev_rna_exp0016 D02 False 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 1210 991 1 0 False FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . low 1210 991 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 EIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQr|lshh* LH00995:25:23T55JLT4:2:1104:16169:6899 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0008257638315441783 0.0 0.00041288191577208916 1173_M5U Arriba
fp_audit 1173_M5U fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_M5U altera_exact 1173 clinical patient breast Breast 77 unknown False 1173_M5U_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.60 35.00 47.84 AIH_Ext12_RNA D02 False dev_rna_exp0016_lib_s12 200.00 64.84 dev_rna_exp0016 D02 False 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243695591 243341039 chr1:243695591-chr1:243341039 -,+ Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 7687 409 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr1:243695591 chr1:243341039 chr1:243695591-chr1:243341039 . . low 7687 409 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) TGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA|ATGTTGATCTTGTCTCAGAATATTGCCCAACTGGAGGCCCAGGTGGAAAAGGTTACAAAGGAAAAGATTTCAG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 KTDGSFIGYKEKPQDVDLPYPLNNFSVA|nvdlvseycptggpggkgykgkdf LH00995:25:23T55JLT4:6:1112:38513:1154,LH00995:25:23T55JLT4:8:1442:50139:16470 out-of-frame PH_domain(51%)|Centrosomal_colon_cancer_autoantigen_protein_family(42%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000366541 inversion 0.00013007284079084288 0.0 6.503642039542144e-05 1173_M5U Arriba
fp_audit 1173_M5U fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_M5U altera_exact 1173 clinical patient breast Breast 77 unknown False 1173_M5U_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.60 35.00 47.84 AIH_Ext12_RNA D02 False dev_rna_exp0016_lib_s12 200.00 64.84 dev_rna_exp0016 D02 False 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243378863 243664883 chr1:243378863-chr1:243664883 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 1649 11116 1 0 False FAIL False chr1:243378863 chr1:243664883 chr1:243378863-chr1:243664883 . . low 1649 11116 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAG|AATGCCAGTTAATGAAAACAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 EQQKAALAREECLRLTELLGESEHQLHLTr|mpvnen LH00995:25:23T55JLT4:6:1486:25731:24583 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(76%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0006060606060606061 0.0 0.00030303030303030303 1173_M5U Arriba
fp_audit 1173_M5U fusion JAK2--KDM1A KDM1A--JAK2 JAK2--KDM1A FP FP Arriba dev_rna_exp0016 1173_M5U altera_exact 1173 clinical patient breast Breast 77 unknown False 1173_M5U_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.60 35.00 47.84 AIH_Ext12_RNA D02 False dev_rna_exp0016_lib_s12 200.00 64.84 dev_rna_exp0016 D02 False 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr9 KDM1A JAK2 23019947 5092585 chr1:23019947-chr9:5092585 +,+ Arriba 1 0 3 3 PASS out-of-frame KDM1A--JAK2 JAK2--KDM1A confidence:medium medium translocation CDS/splice-site intron 1411 9 3 0 False FAIL False chr1:23019947 chr9:5092585 chr1:23019947-chr9:5092585 . . medium 1411 9 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) . GCCGGGGTCCGCAGGGCCTCAGGCCGGCCCTACTGTCGTGCCTGGGTCTGCGACCCCCATGGAAACTGGAATAGCAGAGACTCCGGAGGGGCGTCGGACCAGCCGGCGCAAGCGGGCGAAG|g|TAgAGTACCGTAAGGGAAAGATGAAA KDM1A JAK2 ENSG00000004487 ENSG00000096968 PGSAGPQAGPTVVPGSATPMETGIAETPEGRRTSRRKRAK|veyrkgkm LH00995:25:23T55JLT4:5:2481:33554:6100,LH00995:25:23T55JLT4:6:2258:18523:1056,LH00995:25:23T55JLT4:8:2120:26556:5750 out-of-frame |Protein_kinase_domain(18%) CDS/splice-site intron 3 0 +/+ +/+ . 3 ENST00000356634 . translocation 0.0021216407355021216 0.0 0.0010608203677510608 1173_M5U Arriba
fp_audit 1173_M5U fusion JAK2--KDM1A KDM1A--JAK2 JAK2--KDM1A FP FP Arriba dev_rna_exp0016 1173_M5U altera_exact 1173 clinical patient breast Breast 77 unknown False 1173_M5U_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.60 35.00 47.84 AIH_Ext12_RNA D02 False dev_rna_exp0016_lib_s12 200.00 64.84 dev_rna_exp0016 D02 False 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_M5U_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr9 KDM1A JAK2 23019947 5092585 chr1:23019947-chr9:5092585 +,+ Arriba 1 0 3 3 PASS out-of-frame KDM1A--JAK2 JAK2--KDM1A confidence:medium medium translocation CDS/splice-site intron 1411 9 3 0 False FAIL False chr1:23019947 chr9:5092585 chr1:23019947-chr9:5092585 . . medium 1411 9 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) . GCCGGGGTCCGCAGGGCCTCAGGCCGGCCCTACTGTCGTGCCTGGGTCTGCGACCCCCATGGAAACTGGAATAGCAGAGACTCCGGAGGGGCGTCGGACCAGCCGGCGCAAGCGGGCGAAG|g|TAgAGTACCGTAAGGGAAAGATGAAA KDM1A JAK2 ENSG00000004487 ENSG00000096968 PGSAGPQAGPTVVPGSATPMETGIAETPEGRRTSRRKRAK|veyrkgkm LH00995:25:23T55JLT4:5:2481:33554:6100,LH00995:25:23T55JLT4:6:2258:18523:1056,LH00995:25:23T55JLT4:8:2120:26556:5750 out-of-frame |Protein_kinase_domain(18%) CDS/splice-site intron 3 0 +/+ +/+ . 3 ENST00000356634 . translocation 0.0021216407355021216 0.0 0.0010608203677510608 1173_M5U Arriba
fp_audit 1173_N5V fusion BRAF--NDUFB2 NDUFB2--BRAF BRAF--NDUFB2 FP FP Arriba dev_rna_exp0016 1173_N5V altera_exact 1173 clinical patient prostate Prostate 88 unknown False 1173_N5V_T1_RNA_SLD_01 tRNA altera_inhouse ssf 34.50 38.00 34.22 AIH_Ext13_RNA A05 False dev_rna_exp0016_lib_s49 200.00 80.94 dev_rna_exp0016 A07 False 1173_N5V_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_N5V_T1_RNA_SLD_01_A23T55JLT4_1 BND chr7 chr7 NDUFB2 BRAF 140715932 140834703 chr7:140715932-chr7:140834703 -,- Arriba 1 0 5 5 PASS NDUFB2--BRAF BRAF--NDUFB2 confidence:medium;duplicates(3) medium duplication/3'-3' intron CDS/splice-site 6 12189 3.0 0.0 0.0 0.0 0 5 duplicates(3) FAIL False chr7:140715932 chr7:140834703 chr7:140715932-chr7:140834703 . . medium 6 12189 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(5.0<8.0) duplicates(3) CCAAGCTGTGTTGACTCAGATCATCTGACTCCGCCTAGAACAAGACAGCAGGATCTGAATCTCAG|TTTTTCAAAATCCCACAGATGTGGCACGGAGCAACCCCAAGTCACCACAAAAACCTATCGTTAGAGTCTTCCTGCCCAACAAACAGAGGACAGTGGT NDUFB2 BRAF ENSG00000090266 ENSG00000157764 . LH00995:25:23T55JLT4:1:2168:32915:3844,LH00995:25:23T55JLT4:2:1461:25828:19174,LH00995:25:23T55JLT4:2:2131:48658:19622,LH00995:25:23T55JLT4:3:2105:40706:2822,LH00995:25:23T55JLT4:3:2232:19599:25676,LH00995:25:23T55JLT4:3:2233:1445:11439,LH00995:25:23T55JLT4:6:2282:48246:8314,LH00995:25:23T55JLT4:7:2249:23911:26082 . |Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%),Protein_kinase_domain(100%),Raf-like_Ras-binding_domain(100%) intron CDS/splice-site 0 5 +/- -/- . 5 . ENST00000642808 duplication/3'-3' 0.0 0.0004100377234705593 0.00020501886173527966 1173_N5V Arriba
fp_audit 1173_N5V fusion CLIC4--EML4 CLIC4--EML4 CLIC4--EML4 FP FP Arriba dev_rna_exp0016 1173_N5V altera_exact 1173 clinical patient prostate Prostate 88 unknown False 1173_N5V_T1_RNA_SLD_01 tRNA altera_inhouse ssf 34.50 38.00 34.22 AIH_Ext13_RNA A05 False dev_rna_exp0016_lib_s49 200.00 80.94 dev_rna_exp0016 A07 False 1173_N5V_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_N5V_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr2 CLIC4 EML4 24773644 42303332 chr1:24773644-chr2:42303332 +,+ Arriba 1 0 3 3 PASS CLIC4--EML4 CLIC4--EML4 confidence:low;mismatches(1) low translocation intron CDS 1 4621 0.0 1.0 0.0 0.0 0 3 mismatches(1) FAIL False chr1:24773644 chr2:42303332 chr1:24773644-chr2:42303332 . . low 1 4621 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(3.0<8.0) mismatches(1) TTTTTTTTTTTTTTTTTTTTTTGACAGGGCCTCACTTTGTCATCCgGGCT|TTGGGGTCTTGCCACACATCCCTTCAAAGATTTGCTCTTGACATGTGCTCAGGACAGG CLIC4 EML4 ENSG00000169504 ENSG00000143924 . LH00995:25:23T55JLT4:2:1176:46878:20883,LH00995:25:23T55JLT4:4:2219:11598:3438,LH00995:25:23T55JLT4:6:2270:23620:20813,LH00995:25:23T55JLT4:8:2411:36200:27077 . |WD_domain__G-beta_repeat(51%) intron CDS 0 3 +/+ +/+ . 3 . ENST00000318522 translocation 0.0 0.0006487889273356401 0.00032439446366782005 1173_N5V Arriba
fp_audit 1173_NBF fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_NBF altera_exact 1173 clinical patient breast Breast 70 unknown False 1173_NBF_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.00 38.00 60.53 AIH_Ext13_RNA B05 False dev_rna_exp0016_lib_s50 200.00 63.89 dev_rna_exp0016 B07 False 1173_NBF_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NBF_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low;duplicates(2) low inversion CDS/splice-site 5'UTR/splice-site 661 528 2.0 0.0 0.0 0.0 0 1 False duplicates(2) FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . low 661 528 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) AGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 TMKQr|lshh* LH00995:25:23T55JLT4:5:1159:33085:6661,LH00995:25:23T55JLT4:5:1159:33093:6647,LH00995:25:23T55JLT4:7:2316:26144:23504 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.001890359168241966 0.000945179584120983 1173_NBF Arriba
fp_audit 1173_NBF fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_NBF altera_exact 1173 clinical patient breast Breast 70 unknown False 1173_NBF_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.00 38.00 60.53 AIH_Ext13_RNA B05 False dev_rna_exp0016_lib_s50 200.00 63.89 dev_rna_exp0016 B07 False 1173_NBF_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NBF_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243545510 243304713 chr1:243545510-chr1:243304713 -,+ Arriba 1 0 1 1 PASS in-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 1791 269 1 0 True FAIL False chr1:243545510 chr1:243304713 chr1:243545510-chr1:243304713 . . low 1791 269 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GCCTTGGTGGAGGACCAGATGATGCAAAAGAAATTATGAGACACAGTTTCTTCTCTGGAGTAAACTGGCAAGATGTATATGATAAAAAG|GAGAAGCTAAAACTTACTTATGAGGAAAAGTGTGAAATTGAGGAATCCCAATTGAAGTTTTTGAG___GAACGACTTAGCTGAATATCAGA AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 LGGGPDDAKEIMRHSFFSGVNWQDVYDKK|EKLKLTYEEKCEIEESQLKFLRNDLAEYQ LH00995:25:23T55JLT4:3:1122:29388:1518 in-frame PH_domain(100%),Protein_kinase_domain(100%)|Centrosomal_colon_cancer_autoantigen_protein_family(68%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000366541 inversion 0.0005580357142857143 0.0 0.00027901785714285713 1173_NBF Arriba
fp_audit 1173_NBF fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_NBF altera_exact 1173 clinical patient breast Breast 70 unknown False 1173_NBF_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.00 38.00 60.53 AIH_Ext13_RNA B05 False dev_rna_exp0016_lib_s50 200.00 63.89 dev_rna_exp0016 B07 False 1173_NBF_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NBF_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243545510 243415702 chr1:243545510-chr1:243415702 -,+ Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;duplicates(3) low inversion CDS/splice-site CDS/splice-site 1791 610 3.0 0.0 0.0 0.0 1 0 False duplicates(3) FAIL False chr1:243545510 chr1:243415702 chr1:243545510-chr1:243415702 . . low 1791 610 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(3) ATTGCTTTCAGGGCTCTTGATAAAGGATCCAAATAAACG___CCTTGGTGGAGGACCAGATGATGCAAAAGAAATTATGAGACACAGTTTCTTCTCTGGAGTAAACTGGCAAGATGTATATGATAAAAAG|ACAGGAAAAAGATAGCATTCAGCAG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 LLSGLLIKDPNKRLGGGPDDAKEIMRHSFFSGVNWQDVYDKK|tgkr* LH00995:25:23T55JLT4:1:1471:10093:9351,LH00995:25:23T55JLT4:1:2277:14268:7053,LH00995:25:23T55JLT4:3:2427:15271:13723,LH00995:25:23T55JLT4:5:2278:23361:20897 out-of-frame PH_domain(100%),Protein_kinase_domain(100%)|Centrosomal_colon_cancer_autoantigen_protein_family(23%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000366541 inversion 0.0005580357142857143 0.0 0.00027901785714285713 1173_NBF Arriba
fp_audit 1173_NBF fusion AKT3--SMYD3 SMYD3--AKT3 AKT3--SMYD3 FP FP Arriba dev_rna_exp0016 1173_NBF altera_exact 1173 clinical patient breast Breast 70 unknown False 1173_NBF_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.00 38.00 60.53 AIH_Ext13_RNA B05 False dev_rna_exp0016_lib_s50 200.00 63.89 dev_rna_exp0016 B07 False 1173_NBF_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NBF_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SMYD3 AKT3 246507054 243843282 chr1:246507054-chr1:243843282 -,- Arriba 1 0 2 2 PASS out-of-frame SMYD3--AKT3 AKT3--SMYD3 confidence:low;duplicates(1) low deletion CDS/splice-site 5'UTR/splice-site 459 528 1.0 0.0 0.0 0.0 0 2 False duplicates(1) FAIL False chr1:246507054 chr1:243843282 chr1:246507054-chr1:243843282 . . low 459 528 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(1) GTCGTGGCGTCGTCTGCGACCGCTGCCTTCTCGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATC SMYD3 AKT3 ENSG00000185420 ENSG00000117020 RGVVCDRCLLg|lshh* LH00995:25:23T55JLT4:5:1308:2108:26628,LH00995:25:23T55JLT4:5:1367:31370:25662,LH00995:25:23T55JLT4:7:1106:3103:23532 out-of-frame MYND_finger(17%),SET_domain(26%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 2 -/- -/- . 2 ENST00000490107 ENST00000673466 deletion 0.0 0.0037735849056603774 0.0018867924528301887 1173_NBF Arriba
fp_audit 1173_NBF fusion AKT3--SMYD3 SMYD3--AKT3 AKT3--SMYD3 FP FP Arriba dev_rna_exp0016 1173_NBF altera_exact 1173 clinical patient breast Breast 70 unknown False 1173_NBF_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.00 38.00 60.53 AIH_Ext13_RNA B05 False dev_rna_exp0016_lib_s50 200.00 63.89 dev_rna_exp0016 B07 False 1173_NBF_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NBF_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SMYD3 AKT3 246327201 243695716 chr1:246327201-chr1:243695716 -,- Arriba 1 0 1 1 PASS out-of-frame SMYD3--AKT3 AKT3--SMYD3 confidence:low low deletion CDS/splice-site CDS/splice-site 1337 4475 0 1 False FAIL False chr1:246327201 chr1:243695716 chr1:246327201-chr1:243695716 . . low 1337 4475 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . TTGAAGCCTTTGCAAAA|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACCTCAAGATGTGGATTTA SMYD3 AKT3 ENSG00000185420 ENSG00000117020 EAFAK|eni* LH00995:25:23T55JLT4:5:1250:23134:13191 out-of-frame MYND_finger(100%),SET_domain(79%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 -/- -/- . 1 ENST00000490107 ENST00000336199 deletion 0.0 0.00022341376228775692 0.00011170688114387846 1173_NBF Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43545668 chr20:19889658-chr17:43545668 +,- Arriba 1 0 15 15 PASS in-frame RIN2--ETV4 ETV4--RIN2 confidence:high;duplicates(2) high translocation CDS/splice-site 5'UTR/splice-site 1214 327 2.0 0.0 0.0 0.0 1 14 True duplicates(2) PASS False chr20:19889658 chr17:43545668 chr20:19889658-chr17:43545668 . . high 1214 327 downstream downstream 0 duplicates(2) AGTCCCCGGCGTGCAGTGGAGCCTCGCTGGGGGAAATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|GTCTCGGCCCCCGCTTGGGGCCCCGGCCGTGCGGCCGGAGGGAGCGGCCGGATGGAGCGGAGGATGAAAGCCGGATACTTGGACCAGCAAGTGCCCTACACCTTCAGCAGC RIN2 ETV4 ENSG00000132669 ENSG00000175832 SPACSGASLGEMTAWTMGARGLDKRGSFFK|vsapawgpgraaggsgrMERRMKAGYLDQQVPYTFS LH00995:25:23T55JLT4:2:1229:47882:5414,LH00995:25:23T55JLT4:2:2202:16460:11299,LH00995:25:23T55JLT4:5:1246:10190:11958,LH00995:25:23T55JLT4:5:1296:27171:18249,LH00995:25:23T55JLT4:5:1301:31936:12406,LH00995:25:23T55JLT4:5:1301:47437:16329,LH00995:25:23T55JLT4:5:2487:46531:21122,LH00995:25:23T55JLT4:6:1469:3427:16750,LH00995:25:23T55JLT4:6:2382:13701:26418,LH00995:25:23T55JLT4:8:1175:26864:9057,LH00995:25:23T55JLT4:8:1297:31944:19734,LH00995:25:23T55JLT4:8:1448:50551:22593,LH00995:25:23T55JLT4:8:1465:19906:22845,LH00995:25:23T55JLT4:8:1465:19923:22845,LH00995:25:23T55JLT4:8:2147:4519:8805,LH00995:25:23T55JLT4:8:2436:46611:23223,LH00995:25:23T55JLT4:2:2105:20044:13191 in-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(100%) CDS/splice-site 5'UTR/splice-site 1 14 +/+ -/- . 15 ENST00000255006 ENST00000319349 translocation 0.0008230452674897119 0.04105571847507331 0.020939381871281512 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43545367 chr20:19889658-chr17:43545367 +,- Arriba 1 0 7 7 PASS in-frame RIN2--ETV4 ETV4--RIN2 confidence:medium;duplicates(5) medium translocation CDS/splice-site CDS/splice-site 1214 2894 5.0 0.0 0.0 0.0 0 7 True duplicates(5) FAIL False chr20:19889658 chr17:43545367 chr20:19889658-chr17:43545367 . . medium 1214 2894 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(7.0<8.0) duplicates(5) GGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|AAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAG___ATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAG___CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCG RIN2 ETV4 ENSG00000132669 ENSG00000175832 GARGLDKRGSFFK|KSPGNGSLREALIGPLGKLMDPGSLPPLDSEDLFQDLSHFQETWLAEAQVPDSDEQFVPDFHSENLAFHSPTTRIKKEPQSP LH00995:25:23T55JLT4:2:1214:23854:6731,LH00995:25:23T55JLT4:2:1364:2343:19216,LH00995:25:23T55JLT4:5:1108:1696:17647,LH00995:25:23T55JLT4:5:1309:31426:27749,LH00995:25:23T55JLT4:5:1469:20230:14746,LH00995:25:23T55JLT4:5:2291:36734:1546,LH00995:25:23T55JLT4:5:2354:12261:9884,LH00995:25:23T55JLT4:6:1301:9632:1126,LH00995:25:23T55JLT4:6:1301:9640:1140,LH00995:25:23T55JLT4:6:2140:26516:6072,LH00995:25:23T55JLT4:6:2365:37712:13583,LH00995:25:23T55JLT4:8:1115:25270:8959 in-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(96%) CDS/splice-site CDS/splice-site 0 7 +/+ -/- . 7 ENST00000255006 ENST00000319349 translocation 0.0 0.002412961047914512 0.001206480523957256 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43536479 chr20:19889658-chr17:43536479 +,- Arriba 1 0 5 5 PASS out-of-frame RIN2--ETV4 ETV4--RIN2 confidence:medium;duplicates(1) medium translocation CDS/splice-site CDS/splice-site 1214 10369 1.0 0.0 0.0 0.0 0 5 False duplicates(1) FAIL False chr20:19889658 chr17:43536479 chr20:19889658-chr17:43536479 . . medium 1214 10369 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(5.0<8.0) duplicates(1) ATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGG RIN2 ETV4 ENSG00000132669 ENSG00000175832 MTAWTMGARGLDKRGSFFK|lryqtvmsslflisiqkt* LH00995:25:23T55JLT4:2:1268:16606:29039,LH00995:25:23T55JLT4:2:1480:41159:21458,LH00995:25:23T55JLT4:5:1101:26233:7404,LH00995:25:23T55JLT4:5:1125:50697:7740,LH00995:25:23T55JLT4:5:1237:44929:10388,LH00995:25:23T55JLT4:6:2116:50292:27161 out-of-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(82%) CDS/splice-site CDS/splice-site 0 5 +/+ -/- . 5 ENST00000255006 ENST00000319349 translocation 0.0 0.0004819741661846925 0.00024098708309234625 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43533985 chr20:19889658-chr17:43533985 +,- Arriba 1 0 1 1 PASS out-of-frame RIN2--ETV4 ETV4--RIN2 confidence:low;duplicates(2) low translocation CDS/splice-site CDS/splice-site 1214 15974 2.0 0.0 0.0 0.0 0 1 False duplicates(2) FAIL False chr20:19889658 chr17:43533985 chr20:19889658-chr17:43533985 . . low 1214 15974 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) GGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCC RIN2 ETV4 ENSG00000132669 ENSG00000175832 GARGLDKRGSFFK|* LH00995:25:23T55JLT4:5:1116:28247:15657,LH00995:25:23T55JLT4:5:1212:24032:9421,LH00995:25:23T55JLT4:8:1188:2019:24961 out-of-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(72%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000255006 ENST00000319349 translocation 0.0 6.259780907668232e-05 3.129890453834116e-05 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43545668 chr20:19889658-chr17:43545668 +,- Arriba 1 0 21 21 PASS in-frame RIN2--ETV4 ETV4--RIN2 confidence:high;duplicates(8) high translocation CDS/splice-site 5'UTR/splice-site 1208 382 8.0 0.0 0.0 0.0 3 18 True duplicates(8) PASS False chr20:19889658 chr17:43545668 chr20:19889658-chr17:43545668 . . high 1208 382 downstream downstream 0 duplicates(8) AGTGGAGCCTCGCTGGGGGAAATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|GTCTCGGCCCCCGCTTGGGGCCCCGGCCGTGCGGCCGGAGGGAGCGGCCGGATGGAGCGGAGGATGAAAGCCGGATACTTGGACCAGCAAGTGCCCTACACCTTCAGCAGC___AAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAG___ATCTCTTCCAGGATCTAAGT RIN2 ETV4 ENSG00000132669 ENSG00000175832 SGASLGEMTAWTMGARGLDKRGSFFK|vsapawgpgraaggsgrmerrmkagyldqqvpytfsskspgngslrealigplgklMDPGSLPPLDSEDLFQDL LH00995:25:23T55JLT4:2:1316:8936:10598,LH00995:25:23T55JLT4:2:1422:48351:21696,LH00995:25:23T55JLT4:2:2366:21225:27651,LH00995:25:23T55JLT4:5:1118:26419:23728,LH00995:25:23T55JLT4:5:1121:36086:1322,LH00995:25:23T55JLT4:5:1235:24186:2569,LH00995:25:23T55JLT4:5:1277:3411:19833,LH00995:25:23T55JLT4:5:1338:39161:1855,LH00995:25:23T55JLT4:5:1341:34048:20463,LH00995:25:23T55JLT4:5:2126:6250:25479,LH00995:25:23T55JLT4:5:2148:9203:4727,LH00995:25:23T55JLT4:5:2360:20343:7880,LH00995:25:23T55JLT4:6:1471:30326:3985,LH00995:25:23T55JLT4:6:1487:19647:10823,LH00995:25:23T55JLT4:6:2375:19057:2541,LH00995:25:23T55JLT4:6:2467:50333:5652,LH00995:25:23T55JLT4:6:2473:15497:10921,LH00995:25:23T55JLT4:8:1110:8386:27021,LH00995:25:23T55JLT4:8:1118:12925:15152,LH00995:25:23T55JLT4:8:1118:12933:15166,LH00995:25:23T55JLT4:8:1188:31135:19650,LH00995:25:23T55JLT4:8:1346:8613:20491,LH00995:25:23T55JLT4:8:1395:30318:24401,LH00995:25:23T55JLT4:8:2133:38473:16610,LH00995:25:23T55JLT4:8:2363:18337:21304,LH00995:25:23T55JLT4:2:2143:5134:18445,LH00995:25:23T55JLT4:5:2487:1930:18950,LH00995:25:23T55JLT4:6:2308:51401:17002,LH00995:25:23T55JLT4:8:1132:46725:19132 in-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(100%) CDS/splice-site 5'UTR/splice-site 3 18 +/+ -/- . 21 ENST00000255006 ENST00000586764 translocation 0.002477291494632535 0.045 0.023738645747316267 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43545367 chr20:19889658-chr17:43545367 +,- Arriba 1 0 9 9 PASS RIN2--ETV4 ETV4--RIN2 confidence:medium;duplicates(11) medium translocation CDS/splice-site CDS/splice-site 1208 3673 11.0 0.0 0.0 0.0 0 9 duplicates(11) FAIL False chr20:19889658 chr17:43545367 chr20:19889658-chr17:43545367 . . medium 1208 3673 downstream downstream 0 confidence_below_min(medium<high) duplicates(11) ATTCTGCTTACAAAG___GAGTCCCCGGCGTGCAGTGGAGCCTCGCTGGGGGAAATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|AAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAG___ATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAG___CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCC RIN2 ETV4 ENSG00000132669 ENSG00000175832 . LH00995:25:23T55JLT4:2:1146:26896:6395,LH00995:25:23T55JLT4:2:1146:26912:6395,LH00995:25:23T55JLT4:5:1282:16776:17787,LH00995:25:23T55JLT4:5:2168:10093:10304,LH00995:25:23T55JLT4:5:2345:28854:12924,LH00995:25:23T55JLT4:5:2372:23660:22145,LH00995:25:23T55JLT4:6:1123:44492:3270,LH00995:25:23T55JLT4:6:1123:44508:3270,LH00995:25:23T55JLT4:6:1183:48157:10458,LH00995:25:23T55JLT4:6:1203:43481:13345,LH00995:25:23T55JLT4:6:1334:28546:28478,LH00995:25:23T55JLT4:6:1334:28555:28492,LH00995:25:23T55JLT4:6:2108:27875:27539,LH00995:25:23T55JLT4:6:2265:46757:3830,LH00995:25:23T55JLT4:8:1228:38311:26867,LH00995:25:23T55JLT4:8:2133:41741:27175,LH00995:25:23T55JLT4:8:2352:20044:23616,LH00995:25:23T55JLT4:8:2382:8273:29599,LH00995:25:23T55JLT4:8:2402:14348:15741,LH00995:25:23T55JLT4:8:2471:17018:5428 . |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(96%) CDS/splice-site CDS/splice-site 0 9 +/+ -/- . 9 ENST00000432334 ENST00000319349 translocation 0.0 0.0024443237370994023 0.0012221618685497012 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43533985 chr20:19889658-chr17:43533985 +,- Arriba 1 0 1 1 PASS out-of-frame RIN2--ETV4 ETV4--RIN2 confidence:low;duplicates(2) low translocation CDS/splice-site CDS/splice-site 1208 13334 2.0 0.0 0.0 0.0 0 1 False duplicates(2) FAIL False chr20:19889658 chr17:43533985 chr20:19889658-chr17:43533985 . . low 1208 13334 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) ATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAG___TGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCC RIN2 ETV4 ENSG00000132669 ENSG00000175832 MGARGLDKRGSFFK|* LH00995:25:23T55JLT4:5:1336:27729:23055,LH00995:25:23T55JLT4:5:1336:27737:23041,LH00995:25:23T55JLT4:8:2219:51376:25592 out-of-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(72%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000255006 ENST00000319349 translocation 0.0 7.499062617172853e-05 3.749531308586427e-05 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43536479 chr20:19889658-chr17:43536479 +,- Arriba 1 0 1 1 PASS out-of-frame RIN2--ETV4 ETV4--RIN2 confidence:low;duplicates(1) low translocation CDS/splice-site CDS/splice-site 1208 9445 1.0 0.0 0.0 0.0 0 1 False duplicates(1) FAIL False chr20:19889658 chr17:43536479 chr20:19889658-chr17:43536479 . . low 1208 9445 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GGGAAATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGC RIN2 ETV4 ENSG00000132669 ENSG00000175832 EMTAWTMGARGLDKRGSFFK|lryqtvmsslflisiqkt* LH00995:25:23T55JLT4:5:1403:47024:20799,LH00995:25:23T55JLT4:5:1403:47032:20813 out-of-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(82%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000255006 ENST00000319349 translocation 0.0 0.00010586491636671607 5.2932458183358036e-05 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43545668 chr20:19889658-chr17:43545668 +,- STAR-Fusion 1 0 15 0.0507 15 PASS RIN2--ETV4 ETV4--RIN2 "[""INTERCHROMOSOMAL[chr20--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.4566 False False False GT AG 15 1 . . . . 0.0507 PASS . . . RIN2--ETV4 15 LH00995:25:23T55JLT4:2:1229:47882:5414,LH00995:25:23T55JLT4:2:2105:20044:13191,LH00995:25:23T55JLT4:2:2202:16460:11299,LH00995:25:23T55JLT4:5:1246:10190:11958,LH00995:25:23T55JLT4:5:1296:27171:18249,LH00995:25:23T55JLT4:5:1301:31936:12406,LH00995:25:23T55JLT4:5:1301:47437:16329,LH00995:25:23T55JLT4:5:2487:46531:21122,LH00995:25:23T55JLT4:6:1469:3427:16750,LH00995:25:23T55JLT4:8:1175:26864:9057,LH00995:25:23T55JLT4:8:1297:31944:19734,LH00995:25:23T55JLT4:8:1448:50551:22593,LH00995:25:23T55JLT4:8:1465:19906:22845,LH00995:25:23T55JLT4:8:2147:4519:8805,LH00995:25:23T55JLT4:8:2436:46611:23223 YES_LDAS GT 1.8062 chr20:19889658:+ RIN2^ENSG00000132669.14 . . . AG 1.4566 chr17:43545668:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr20--chr17]""]" False chr20:19889658-chr17:43545668 15.0 0.0 15 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43545367 chr20:19889658-chr17:43545367 +,- STAR-Fusion 1 0 7 0.0236 7 FAIL in-frame RIN2--ETV4 ETV4--RIN2 "[""INTERCHROMOSOMAL[chr20--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.8062 False False False GT AG 7 True Read count too low: 7 < 8 0 ENST00000648440.1 1-57 ENST00000393664.6 61-1455 0.0236 FAIL atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagAAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAGATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAGCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1]|[0]43544975-43545022[1]|[0]43545274-43545367[0] MTAWTMGARGLDKRGSFFKKSPGNGSLREALIGPLGKLMDPGSLPPLDSEDLFQDLSHFQETWLAEAQVPDSDEQFVPDFHSENLAFHSPTTRIKKEPQSPRTDPALSCSRKPPLPYHHGEQCLYSSAYDPPRQIAIKSPAPGALGQSPLQPFPRAEQRNFLRSSGTSQPHPGHGYLGEHSSVFQQPLDICHSFTSQGGGREPLPAPYQHQLSEPCPPYPQQSFKQEYHDPLYEQAGQPAVDQGGVNGHRYPGAGVVIKQEQTDFAYDSDVTGCASMYLHTEGFSGPSPGDGAMGYGYEKPLRPFPDDVCVVPEKFEGDIKQEGVGAFREGPPYQRRGALQLWQFLVALLDDPTNAHFIAWTGRGMEFKLIEPEEVARLWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCEPEALFSLAFPDNQRPALKAEFDRPVSEEDTVPLSHLDESPAYLPELAGPAQPFGPKGGYSY* RIN2--ETV4 7 LH00995:25:23T55JLT4:2:1214:23854:6731,LH00995:25:23T55JLT4:2:1364:2343:19216,LH00995:25:23T55JLT4:5:1108:1696:17647,LH00995:25:23T55JLT4:5:1309:31426:27749,LH00995:25:23T55JLT4:5:2291:36734:1546,LH00995:25:23T55JLT4:5:2354:12261:9884,LH00995:25:23T55JLT4:6:2365:37712:13583 YES_LDAS GT 1.8062 chr20:19889658:+ RIN2^ENSG00000132669.14 . ETS_PEA3_N-PARTIAL|~61-339|5.9e-114^Ets|342-421|2.7e-38 INFRAME AG 1.8892 chr17:43545367:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr20--chr17]""]" False chr20:19889658-chr17:43545367 7.0 0.0 Read count too low: 7 < 8 7 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43536479 chr20:19889658-chr17:43536479 +,- STAR-Fusion 1 0 5 0.0169 5 FAIL out-of-frame RIN2--ETV4 ETV4--RIN2 "[""INTERCHROMOSOMAL[chr20--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.8062 False False False GT AG 5 False Read count too low: 5 < 8 0 ENST00000648440.1 1-57 ENST00000545954.5 86-1338 0.0169 FAIL atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] MTAWTMGARGLDKRGSFFKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT RIN2--ETV4 5 LH00995:25:23T55JLT4:2:1268:16606:29039,LH00995:25:23T55JLT4:2:1480:41159:21458,LH00995:25:23T55JLT4:5:1101:26233:7404,LH00995:25:23T55JLT4:5:1125:50697:7740,LH00995:25:23T55JLT4:6:2116:50292:27161 YES_LDAS GT 1.8062 chr20:19889658:+ RIN2^ENSG00000132669.14 . ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 FRAMESHIFT AG 1.9086 chr17:43536479:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr20--chr17]""]" False chr20:19889658-chr17:43536479 5.0 0.0 Read count too low: 5 < 8 5 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43545668 chr20:19889658-chr17:43545668 +,- STAR-Fusion 1 0 21 0.0711 21 PASS RIN2--ETV4 ETV4--RIN2 "[""INTERCHROMOSOMAL[chr20--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.4566 False False False GT AG 21 1 . . . . 0.0711 PASS . . . RIN2--ETV4 21 LH00995:25:23T55JLT4:2:1316:8936:10598,LH00995:25:23T55JLT4:2:1422:48351:21696,LH00995:25:23T55JLT4:2:2143:5134:18445,LH00995:25:23T55JLT4:2:2366:21225:27651,LH00995:25:23T55JLT4:5:1118:26419:23728,LH00995:25:23T55JLT4:5:1121:36086:1322,LH00995:25:23T55JLT4:5:1235:24186:2569,LH00995:25:23T55JLT4:5:1277:3411:19833,LH00995:25:23T55JLT4:5:1338:39161:1855,LH00995:25:23T55JLT4:5:1341:34048:20463,LH00995:25:23T55JLT4:5:2148:9203:4727,LH00995:25:23T55JLT4:5:2360:20343:7880,LH00995:25:23T55JLT4:5:2487:1930:18950,LH00995:25:23T55JLT4:6:1471:30326:3985,LH00995:25:23T55JLT4:6:2308:51401:17002,LH00995:25:23T55JLT4:6:2375:19057:2541,LH00995:25:23T55JLT4:6:2467:50333:5652,LH00995:25:23T55JLT4:6:2473:15497:10921,LH00995:25:23T55JLT4:8:1110:8386:27021,LH00995:25:23T55JLT4:8:1188:31135:19650,LH00995:25:23T55JLT4:8:1395:30318:24401 YES_LDAS GT 1.8062 chr20:19889658:+ RIN2^ENSG00000132669.14 . . . AG 1.4566 chr17:43545668:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr20--chr17]""]" False chr20:19889658-chr17:43545668 21.0 0.0 21 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43545367 chr20:19889658-chr17:43545367 +,- STAR-Fusion 1 0 9 0.0305 9 PASS in-frame RIN2--ETV4 ETV4--RIN2 "[""INTERCHROMOSOMAL[chr20--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.8062 False False False GT AG 9 True 1 ENST00000648440.1 1-57 ENST00000393664.6 61-1455 0.0305 PASS atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagAAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAGATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAGCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1]|[0]43544975-43545022[1]|[0]43545274-43545367[0] MTAWTMGARGLDKRGSFFKKSPGNGSLREALIGPLGKLMDPGSLPPLDSEDLFQDLSHFQETWLAEAQVPDSDEQFVPDFHSENLAFHSPTTRIKKEPQSPRTDPALSCSRKPPLPYHHGEQCLYSSAYDPPRQIAIKSPAPGALGQSPLQPFPRAEQRNFLRSSGTSQPHPGHGYLGEHSSVFQQPLDICHSFTSQGGGREPLPAPYQHQLSEPCPPYPQQSFKQEYHDPLYEQAGQPAVDQGGVNGHRYPGAGVVIKQEQTDFAYDSDVTGCASMYLHTEGFSGPSPGDGAMGYGYEKPLRPFPDDVCVVPEKFEGDIKQEGVGAFREGPPYQRRGALQLWQFLVALLDDPTNAHFIAWTGRGMEFKLIEPEEVARLWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCEPEALFSLAFPDNQRPALKAEFDRPVSEEDTVPLSHLDESPAYLPELAGPAQPFGPKGGYSY* RIN2--ETV4 9 LH00995:25:23T55JLT4:2:1146:26896:6395,LH00995:25:23T55JLT4:5:1282:16776:17787,LH00995:25:23T55JLT4:5:2168:10093:10304,LH00995:25:23T55JLT4:5:2372:23660:22145,LH00995:25:23T55JLT4:6:1123:44492:3270,LH00995:25:23T55JLT4:6:1203:43481:13345,LH00995:25:23T55JLT4:6:2108:27875:27539,LH00995:25:23T55JLT4:6:2265:46757:3830,LH00995:25:23T55JLT4:8:2382:8273:29599 YES_LDAS GT 1.8062 chr20:19889658:+ RIN2^ENSG00000132669.14 . ETS_PEA3_N-PARTIAL|~61-339|5.9e-114^Ets|342-421|2.7e-38 INFRAME AG 1.8892 chr17:43545367:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr20--chr17]""]" False chr20:19889658-chr17:43545367 9.0 0.0 9 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43545668 chr20:19889658-chr17:43545668 +,- Arriba 1 0 21 21 PASS in-frame RIN2--ETV4 ETV4--RIN2 confidence:high;duplicates(8) high translocation CDS/splice-site 5'UTR/splice-site 1208 382 8.0 0.0 0.0 0.0 3 18 True duplicates(8) PASS False chr20:19889658 chr17:43545668 chr20:19889658-chr17:43545668 . . high 1208 382 downstream downstream 0 duplicates(8) AGTGGAGCCTCGCTGGGGGAAATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|GTCTCGGCCCCCGCTTGGGGCCCCGGCCGTGCGGCCGGAGGGAGCGGCCGGATGGAGCGGAGGATGAAAGCCGGATACTTGGACCAGCAAGTGCCCTACACCTTCAGCAGC___AAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAG___ATCTCTTCCAGGATCTAAGT RIN2 ETV4 ENSG00000132669 ENSG00000175832 SGASLGEMTAWTMGARGLDKRGSFFK|vsapawgpgraaggsgrmerrmkagyldqqvpytfsskspgngslrealigplgklMDPGSLPPLDSEDLFQDL LH00995:25:23T55JLT4:2:1316:8936:10598,LH00995:25:23T55JLT4:2:1422:48351:21696,LH00995:25:23T55JLT4:2:2366:21225:27651,LH00995:25:23T55JLT4:5:1118:26419:23728,LH00995:25:23T55JLT4:5:1121:36086:1322,LH00995:25:23T55JLT4:5:1235:24186:2569,LH00995:25:23T55JLT4:5:1277:3411:19833,LH00995:25:23T55JLT4:5:1338:39161:1855,LH00995:25:23T55JLT4:5:1341:34048:20463,LH00995:25:23T55JLT4:5:2126:6250:25479,LH00995:25:23T55JLT4:5:2148:9203:4727,LH00995:25:23T55JLT4:5:2360:20343:7880,LH00995:25:23T55JLT4:6:1471:30326:3985,LH00995:25:23T55JLT4:6:1487:19647:10823,LH00995:25:23T55JLT4:6:2375:19057:2541,LH00995:25:23T55JLT4:6:2467:50333:5652,LH00995:25:23T55JLT4:6:2473:15497:10921,LH00995:25:23T55JLT4:8:1110:8386:27021,LH00995:25:23T55JLT4:8:1118:12925:15152,LH00995:25:23T55JLT4:8:1118:12933:15166,LH00995:25:23T55JLT4:8:1188:31135:19650,LH00995:25:23T55JLT4:8:1346:8613:20491,LH00995:25:23T55JLT4:8:1395:30318:24401,LH00995:25:23T55JLT4:8:2133:38473:16610,LH00995:25:23T55JLT4:8:2363:18337:21304,LH00995:25:23T55JLT4:2:2143:5134:18445,LH00995:25:23T55JLT4:5:2487:1930:18950,LH00995:25:23T55JLT4:6:2308:51401:17002,LH00995:25:23T55JLT4:8:1132:46725:19132 in-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(100%) CDS/splice-site 5'UTR/splice-site 3 18 +/+ -/- . 21 ENST00000255006 ENST00000586764 translocation 0.002477291494632535 0.045 0.023738645747316267 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43545367 chr20:19889658-chr17:43545367 +,- Arriba 1 0 9 9 PASS RIN2--ETV4 ETV4--RIN2 confidence:medium;duplicates(11) medium translocation CDS/splice-site CDS/splice-site 1208 3673 11.0 0.0 0.0 0.0 0 9 duplicates(11) FAIL False chr20:19889658 chr17:43545367 chr20:19889658-chr17:43545367 . . medium 1208 3673 downstream downstream 0 confidence_below_min(medium<high) duplicates(11) ATTCTGCTTACAAAG___GAGTCCCCGGCGTGCAGTGGAGCCTCGCTGGGGGAAATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|AAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAG___ATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAG___CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCC RIN2 ETV4 ENSG00000132669 ENSG00000175832 . LH00995:25:23T55JLT4:2:1146:26896:6395,LH00995:25:23T55JLT4:2:1146:26912:6395,LH00995:25:23T55JLT4:5:1282:16776:17787,LH00995:25:23T55JLT4:5:2168:10093:10304,LH00995:25:23T55JLT4:5:2345:28854:12924,LH00995:25:23T55JLT4:5:2372:23660:22145,LH00995:25:23T55JLT4:6:1123:44492:3270,LH00995:25:23T55JLT4:6:1123:44508:3270,LH00995:25:23T55JLT4:6:1183:48157:10458,LH00995:25:23T55JLT4:6:1203:43481:13345,LH00995:25:23T55JLT4:6:1334:28546:28478,LH00995:25:23T55JLT4:6:1334:28555:28492,LH00995:25:23T55JLT4:6:2108:27875:27539,LH00995:25:23T55JLT4:6:2265:46757:3830,LH00995:25:23T55JLT4:8:1228:38311:26867,LH00995:25:23T55JLT4:8:2133:41741:27175,LH00995:25:23T55JLT4:8:2352:20044:23616,LH00995:25:23T55JLT4:8:2382:8273:29599,LH00995:25:23T55JLT4:8:2402:14348:15741,LH00995:25:23T55JLT4:8:2471:17018:5428 . |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(96%) CDS/splice-site CDS/splice-site 0 9 +/+ -/- . 9 ENST00000432334 ENST00000319349 translocation 0.0 0.0024443237370994023 0.0012221618685497012 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43533985 chr20:19889658-chr17:43533985 +,- Arriba 1 0 1 1 PASS out-of-frame RIN2--ETV4 ETV4--RIN2 confidence:low;duplicates(2) low translocation CDS/splice-site CDS/splice-site 1208 13334 2.0 0.0 0.0 0.0 0 1 False duplicates(2) FAIL False chr20:19889658 chr17:43533985 chr20:19889658-chr17:43533985 . . low 1208 13334 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) ATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAG___TGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCC RIN2 ETV4 ENSG00000132669 ENSG00000175832 MGARGLDKRGSFFK|* LH00995:25:23T55JLT4:5:1336:27729:23055,LH00995:25:23T55JLT4:5:1336:27737:23041,LH00995:25:23T55JLT4:8:2219:51376:25592 out-of-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(72%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000255006 ENST00000319349 translocation 0.0 7.499062617172853e-05 3.749531308586427e-05 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43536479 chr20:19889658-chr17:43536479 +,- Arriba 1 0 1 1 PASS out-of-frame RIN2--ETV4 ETV4--RIN2 confidence:low;duplicates(1) low translocation CDS/splice-site CDS/splice-site 1208 9445 1.0 0.0 0.0 0.0 0 1 False duplicates(1) FAIL False chr20:19889658 chr17:43536479 chr20:19889658-chr17:43536479 . . low 1208 9445 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GGGAAATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGC RIN2 ETV4 ENSG00000132669 ENSG00000175832 EMTAWTMGARGLDKRGSFFK|lryqtvmsslflisiqkt* LH00995:25:23T55JLT4:5:1403:47024:20799,LH00995:25:23T55JLT4:5:1403:47032:20813 out-of-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(82%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000255006 ENST00000319349 translocation 0.0 0.00010586491636671607 5.2932458183358036e-05 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43545668 chr20:19889658-chr17:43545668 +,- Arriba 1 0 15 15 PASS in-frame RIN2--ETV4 ETV4--RIN2 confidence:high;duplicates(2) high translocation CDS/splice-site 5'UTR/splice-site 1214 327 2.0 0.0 0.0 0.0 1 14 True duplicates(2) PASS False chr20:19889658 chr17:43545668 chr20:19889658-chr17:43545668 . . high 1214 327 downstream downstream 0 duplicates(2) AGTCCCCGGCGTGCAGTGGAGCCTCGCTGGGGGAAATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|GTCTCGGCCCCCGCTTGGGGCCCCGGCCGTGCGGCCGGAGGGAGCGGCCGGATGGAGCGGAGGATGAAAGCCGGATACTTGGACCAGCAAGTGCCCTACACCTTCAGCAGC RIN2 ETV4 ENSG00000132669 ENSG00000175832 SPACSGASLGEMTAWTMGARGLDKRGSFFK|vsapawgpgraaggsgrMERRMKAGYLDQQVPYTFS LH00995:25:23T55JLT4:2:1229:47882:5414,LH00995:25:23T55JLT4:2:2202:16460:11299,LH00995:25:23T55JLT4:5:1246:10190:11958,LH00995:25:23T55JLT4:5:1296:27171:18249,LH00995:25:23T55JLT4:5:1301:31936:12406,LH00995:25:23T55JLT4:5:1301:47437:16329,LH00995:25:23T55JLT4:5:2487:46531:21122,LH00995:25:23T55JLT4:6:1469:3427:16750,LH00995:25:23T55JLT4:6:2382:13701:26418,LH00995:25:23T55JLT4:8:1175:26864:9057,LH00995:25:23T55JLT4:8:1297:31944:19734,LH00995:25:23T55JLT4:8:1448:50551:22593,LH00995:25:23T55JLT4:8:1465:19906:22845,LH00995:25:23T55JLT4:8:1465:19923:22845,LH00995:25:23T55JLT4:8:2147:4519:8805,LH00995:25:23T55JLT4:8:2436:46611:23223,LH00995:25:23T55JLT4:2:2105:20044:13191 in-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(100%) CDS/splice-site 5'UTR/splice-site 1 14 +/+ -/- . 15 ENST00000255006 ENST00000319349 translocation 0.0008230452674897119 0.04105571847507331 0.020939381871281512 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43545367 chr20:19889658-chr17:43545367 +,- Arriba 1 0 7 7 PASS in-frame RIN2--ETV4 ETV4--RIN2 confidence:medium;duplicates(5) medium translocation CDS/splice-site CDS/splice-site 1214 2894 5.0 0.0 0.0 0.0 0 7 True duplicates(5) FAIL False chr20:19889658 chr17:43545367 chr20:19889658-chr17:43545367 . . medium 1214 2894 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(7.0<8.0) duplicates(5) GGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|AAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAG___ATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAG___CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCG RIN2 ETV4 ENSG00000132669 ENSG00000175832 GARGLDKRGSFFK|KSPGNGSLREALIGPLGKLMDPGSLPPLDSEDLFQDLSHFQETWLAEAQVPDSDEQFVPDFHSENLAFHSPTTRIKKEPQSP LH00995:25:23T55JLT4:2:1214:23854:6731,LH00995:25:23T55JLT4:2:1364:2343:19216,LH00995:25:23T55JLT4:5:1108:1696:17647,LH00995:25:23T55JLT4:5:1309:31426:27749,LH00995:25:23T55JLT4:5:1469:20230:14746,LH00995:25:23T55JLT4:5:2291:36734:1546,LH00995:25:23T55JLT4:5:2354:12261:9884,LH00995:25:23T55JLT4:6:1301:9632:1126,LH00995:25:23T55JLT4:6:1301:9640:1140,LH00995:25:23T55JLT4:6:2140:26516:6072,LH00995:25:23T55JLT4:6:2365:37712:13583,LH00995:25:23T55JLT4:8:1115:25270:8959 in-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(96%) CDS/splice-site CDS/splice-site 0 7 +/+ -/- . 7 ENST00000255006 ENST00000319349 translocation 0.0 0.002412961047914512 0.001206480523957256 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43536479 chr20:19889658-chr17:43536479 +,- Arriba 1 0 5 5 PASS out-of-frame RIN2--ETV4 ETV4--RIN2 confidence:medium;duplicates(1) medium translocation CDS/splice-site CDS/splice-site 1214 10369 1.0 0.0 0.0 0.0 0 5 False duplicates(1) FAIL False chr20:19889658 chr17:43536479 chr20:19889658-chr17:43536479 . . medium 1214 10369 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(5.0<8.0) duplicates(1) ATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGG RIN2 ETV4 ENSG00000132669 ENSG00000175832 MTAWTMGARGLDKRGSFFK|lryqtvmsslflisiqkt* LH00995:25:23T55JLT4:2:1268:16606:29039,LH00995:25:23T55JLT4:2:1480:41159:21458,LH00995:25:23T55JLT4:5:1101:26233:7404,LH00995:25:23T55JLT4:5:1125:50697:7740,LH00995:25:23T55JLT4:5:1237:44929:10388,LH00995:25:23T55JLT4:6:2116:50292:27161 out-of-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(82%) CDS/splice-site CDS/splice-site 0 5 +/+ -/- . 5 ENST00000255006 ENST00000319349 translocation 0.0 0.0004819741661846925 0.00024098708309234625 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43533985 chr20:19889658-chr17:43533985 +,- Arriba 1 0 1 1 PASS out-of-frame RIN2--ETV4 ETV4--RIN2 confidence:low;duplicates(2) low translocation CDS/splice-site CDS/splice-site 1214 15974 2.0 0.0 0.0 0.0 0 1 False duplicates(2) FAIL False chr20:19889658 chr17:43533985 chr20:19889658-chr17:43533985 . . low 1214 15974 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) GGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCC RIN2 ETV4 ENSG00000132669 ENSG00000175832 GARGLDKRGSFFK|* LH00995:25:23T55JLT4:5:1116:28247:15657,LH00995:25:23T55JLT4:5:1212:24032:9421,LH00995:25:23T55JLT4:8:1188:2019:24961 out-of-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(72%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000255006 ENST00000319349 translocation 0.0 6.259780907668232e-05 3.129890453834116e-05 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43545668 chr20:19889658-chr17:43545668 +,- STAR-Fusion 1 0 21 0.0711 21 PASS RIN2--ETV4 ETV4--RIN2 "[""INTERCHROMOSOMAL[chr20--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.4566 False False False GT AG 21 1 . . . . 0.0711 PASS . . . RIN2--ETV4 21 LH00995:25:23T55JLT4:2:1316:8936:10598,LH00995:25:23T55JLT4:2:1422:48351:21696,LH00995:25:23T55JLT4:2:2143:5134:18445,LH00995:25:23T55JLT4:2:2366:21225:27651,LH00995:25:23T55JLT4:5:1118:26419:23728,LH00995:25:23T55JLT4:5:1121:36086:1322,LH00995:25:23T55JLT4:5:1235:24186:2569,LH00995:25:23T55JLT4:5:1277:3411:19833,LH00995:25:23T55JLT4:5:1338:39161:1855,LH00995:25:23T55JLT4:5:1341:34048:20463,LH00995:25:23T55JLT4:5:2148:9203:4727,LH00995:25:23T55JLT4:5:2360:20343:7880,LH00995:25:23T55JLT4:5:2487:1930:18950,LH00995:25:23T55JLT4:6:1471:30326:3985,LH00995:25:23T55JLT4:6:2308:51401:17002,LH00995:25:23T55JLT4:6:2375:19057:2541,LH00995:25:23T55JLT4:6:2467:50333:5652,LH00995:25:23T55JLT4:6:2473:15497:10921,LH00995:25:23T55JLT4:8:1110:8386:27021,LH00995:25:23T55JLT4:8:1188:31135:19650,LH00995:25:23T55JLT4:8:1395:30318:24401 YES_LDAS GT 1.8062 chr20:19889658:+ RIN2^ENSG00000132669.14 . . . AG 1.4566 chr17:43545668:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr20--chr17]""]" False chr20:19889658-chr17:43545668 21.0 0.0 21 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr20 chr17 RIN2 ETV4 19889658 43545367 chr20:19889658-chr17:43545367 +,- STAR-Fusion 1 0 9 0.0305 9 PASS in-frame RIN2--ETV4 ETV4--RIN2 "[""INTERCHROMOSOMAL[chr20--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.8062 False False False GT AG 9 True 1 ENST00000648440.1 1-57 ENST00000393664.6 61-1455 0.0305 PASS atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagAAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAGATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAGCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1]|[0]43544975-43545022[1]|[0]43545274-43545367[0] MTAWTMGARGLDKRGSFFKKSPGNGSLREALIGPLGKLMDPGSLPPLDSEDLFQDLSHFQETWLAEAQVPDSDEQFVPDFHSENLAFHSPTTRIKKEPQSPRTDPALSCSRKPPLPYHHGEQCLYSSAYDPPRQIAIKSPAPGALGQSPLQPFPRAEQRNFLRSSGTSQPHPGHGYLGEHSSVFQQPLDICHSFTSQGGGREPLPAPYQHQLSEPCPPYPQQSFKQEYHDPLYEQAGQPAVDQGGVNGHRYPGAGVVIKQEQTDFAYDSDVTGCASMYLHTEGFSGPSPGDGAMGYGYEKPLRPFPDDVCVVPEKFEGDIKQEGVGAFREGPPYQRRGALQLWQFLVALLDDPTNAHFIAWTGRGMEFKLIEPEEVARLWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCEPEALFSLAFPDNQRPALKAEFDRPVSEEDTVPLSHLDESPAYLPELAGPAQPFGPKGGYSY* RIN2--ETV4 9 LH00995:25:23T55JLT4:2:1146:26896:6395,LH00995:25:23T55JLT4:5:1282:16776:17787,LH00995:25:23T55JLT4:5:2168:10093:10304,LH00995:25:23T55JLT4:5:2372:23660:22145,LH00995:25:23T55JLT4:6:1123:44492:3270,LH00995:25:23T55JLT4:6:1203:43481:13345,LH00995:25:23T55JLT4:6:2108:27875:27539,LH00995:25:23T55JLT4:6:2265:46757:3830,LH00995:25:23T55JLT4:8:2382:8273:29599 YES_LDAS GT 1.8062 chr20:19889658:+ RIN2^ENSG00000132669.14 . ETS_PEA3_N-PARTIAL|~61-339|5.9e-114^Ets|342-421|2.7e-38 INFRAME AG 1.8892 chr17:43545367:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr20--chr17]""]" False chr20:19889658-chr17:43545367 9.0 0.0 9 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43545668 chr20:19889658-chr17:43545668 +,- STAR-Fusion 1 0 15 0.0507 15 PASS RIN2--ETV4 ETV4--RIN2 "[""INTERCHROMOSOMAL[chr20--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.4566 False False False GT AG 15 1 . . . . 0.0507 PASS . . . RIN2--ETV4 15 LH00995:25:23T55JLT4:2:1229:47882:5414,LH00995:25:23T55JLT4:2:2105:20044:13191,LH00995:25:23T55JLT4:2:2202:16460:11299,LH00995:25:23T55JLT4:5:1246:10190:11958,LH00995:25:23T55JLT4:5:1296:27171:18249,LH00995:25:23T55JLT4:5:1301:31936:12406,LH00995:25:23T55JLT4:5:1301:47437:16329,LH00995:25:23T55JLT4:5:2487:46531:21122,LH00995:25:23T55JLT4:6:1469:3427:16750,LH00995:25:23T55JLT4:8:1175:26864:9057,LH00995:25:23T55JLT4:8:1297:31944:19734,LH00995:25:23T55JLT4:8:1448:50551:22593,LH00995:25:23T55JLT4:8:1465:19906:22845,LH00995:25:23T55JLT4:8:2147:4519:8805,LH00995:25:23T55JLT4:8:2436:46611:23223 YES_LDAS GT 1.8062 chr20:19889658:+ RIN2^ENSG00000132669.14 . . . AG 1.4566 chr17:43545668:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr20--chr17]""]" False chr20:19889658-chr17:43545668 15.0 0.0 15 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43545367 chr20:19889658-chr17:43545367 +,- STAR-Fusion 1 0 7 0.0236 7 FAIL in-frame RIN2--ETV4 ETV4--RIN2 "[""INTERCHROMOSOMAL[chr20--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.8062 False False False GT AG 7 True Read count too low: 7 < 8 0 ENST00000648440.1 1-57 ENST00000393664.6 61-1455 0.0236 FAIL atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagAAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAGATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAGCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1]|[0]43544975-43545022[1]|[0]43545274-43545367[0] MTAWTMGARGLDKRGSFFKKSPGNGSLREALIGPLGKLMDPGSLPPLDSEDLFQDLSHFQETWLAEAQVPDSDEQFVPDFHSENLAFHSPTTRIKKEPQSPRTDPALSCSRKPPLPYHHGEQCLYSSAYDPPRQIAIKSPAPGALGQSPLQPFPRAEQRNFLRSSGTSQPHPGHGYLGEHSSVFQQPLDICHSFTSQGGGREPLPAPYQHQLSEPCPPYPQQSFKQEYHDPLYEQAGQPAVDQGGVNGHRYPGAGVVIKQEQTDFAYDSDVTGCASMYLHTEGFSGPSPGDGAMGYGYEKPLRPFPDDVCVVPEKFEGDIKQEGVGAFREGPPYQRRGALQLWQFLVALLDDPTNAHFIAWTGRGMEFKLIEPEEVARLWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCEPEALFSLAFPDNQRPALKAEFDRPVSEEDTVPLSHLDESPAYLPELAGPAQPFGPKGGYSY* RIN2--ETV4 7 LH00995:25:23T55JLT4:2:1214:23854:6731,LH00995:25:23T55JLT4:2:1364:2343:19216,LH00995:25:23T55JLT4:5:1108:1696:17647,LH00995:25:23T55JLT4:5:1309:31426:27749,LH00995:25:23T55JLT4:5:2291:36734:1546,LH00995:25:23T55JLT4:5:2354:12261:9884,LH00995:25:23T55JLT4:6:2365:37712:13583 YES_LDAS GT 1.8062 chr20:19889658:+ RIN2^ENSG00000132669.14 . ETS_PEA3_N-PARTIAL|~61-339|5.9e-114^Ets|342-421|2.7e-38 INFRAME AG 1.8892 chr17:43545367:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr20--chr17]""]" False chr20:19889658-chr17:43545367 7.0 0.0 Read count too low: 7 < 8 7 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--RIN2 RIN2--ETV4 ETV4--RIN2 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr20 chr17 RIN2 ETV4 19889658 43536479 chr20:19889658-chr17:43536479 +,- STAR-Fusion 1 0 5 0.0169 5 FAIL out-of-frame RIN2--ETV4 ETV4--RIN2 "[""INTERCHROMOSOMAL[chr20--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.8062 False False False GT AG 5 False Read count too low: 5 < 8 0 ENST00000648440.1 1-57 ENST00000545954.5 86-1338 0.0169 FAIL atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] MTAWTMGARGLDKRGSFFKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT RIN2--ETV4 5 LH00995:25:23T55JLT4:2:1268:16606:29039,LH00995:25:23T55JLT4:2:1480:41159:21458,LH00995:25:23T55JLT4:5:1101:26233:7404,LH00995:25:23T55JLT4:5:1125:50697:7740,LH00995:25:23T55JLT4:6:2116:50292:27161 YES_LDAS GT 1.8062 chr20:19889658:+ RIN2^ENSG00000132669.14 . ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 FRAMESHIFT AG 1.9086 chr17:43536479:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr20--chr17]""]" False chr20:19889658-chr17:43536479 5.0 0.0 Read count too low: 5 < 8 5 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--TMEM259 TMEM259--ETV4 ETV4--TMEM259 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr19 chr17 TMEM259 ETV4 1020772 43536479 chr19:1020772-chr17:43536479 -,- Arriba 1 0 10 10 PASS out-of-frame TMEM259--ETV4 ETV4--TMEM259 confidence:medium;duplicates(5) medium translocation CDS/splice-site CDS/splice-site 5602 10369 5.0 0.0 0.0 0.0 2 8 False duplicates(5) FAIL False chr19:1020772 chr17:43536479 chr19:1020772-chr17:43536479 . . medium 5602 10369 upstream downstream 0 confidence_below_min(medium<high) duplicates(5) CCCCCAATCTCAACCCCAACCCCCTCATCAACGTGCGCGACCGGCTCTTCCACGCGCTGTTCTTCAAGATGGCTGTCACCTATTCGCGGCTCTTCCCGCCCGCCTTCCGCCGTCTCTTCGAGTTCTTCGTGCTGCTCAAG|CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAA TMEM259 ETV4 ENSG00000182087 ENSG00000175832 PNLNPNPLINVRDRLFHALFFKMAVTYSRLFPPAFRRLFEFFVLLK|lryqtvmsslflisiqkt* LH00995:25:23T55JLT4:2:2180:49605:11117,LH00995:25:23T55JLT4:2:2191:3225:28366,LH00995:25:23T55JLT4:5:1266:5822:10416,LH00995:25:23T55JLT4:5:1307:12876:24344,LH00995:25:23T55JLT4:5:1394:3799:29025,LH00995:25:23T55JLT4:6:1278:11177:27679,LH00995:25:23T55JLT4:6:1439:49888:7320,LH00995:25:23T55JLT4:6:1439:49896:7306,LH00995:25:23T55JLT4:6:1454:9810:16512,LH00995:25:23T55JLT4:8:1256:39217:23588,LH00995:25:23T55JLT4:8:1320:5571:17044,LH00995:25:23T55JLT4:8:1344:50001:26488,LH00995:25:23T55JLT4:8:1449:23895:10304,LH00995:25:23T55JLT4:2:2146:16743:22859,LH00995:25:23T55JLT4:8:2474:30488:27273 out-of-frame Tumour-associated_protein(11%)|Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(82%) CDS/splice-site CDS/splice-site 2 8 -/- -/- . 10 ENST00000593068 ENST00000319349 translocation 0.00035688793718772306 0.0007709357232340753 0.0005639118302108992 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--TMEM259 TMEM259--ETV4 ETV4--TMEM259 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr19 chr17 TMEM259 ETV4 1020772 43536479 chr19:1020772-chr17:43536479 -,- Arriba 1 0 9 9 PASS out-of-frame TMEM259--ETV4 ETV4--TMEM259 confidence:medium;duplicates(2) medium translocation CDS/splice-site CDS/splice-site 5396 9445 2.0 0.0 0.0 0.0 2 7 False duplicates(2) FAIL False chr19:1020772 chr17:43536479 chr19:1020772-chr17:43536479 . . medium 5396 9445 upstream downstream 0 confidence_below_min(medium<high) duplicates(2) CTGTCACCTATTCGCGGCTCTTCCCGCCCGCCTTCCGCCGTCTCTTCGAGTTCTTCGTGCTGCTCAAG|CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAG TMEM259 ETV4 ENSG00000182087 ENSG00000175832 VTYSRLFPPAFRRLFEFFVLLK|lryqtvmsslflisiqkt* LH00995:25:23T55JLT4:5:1173:12447:2247,LH00995:25:23T55JLT4:5:1173:12455:2261,LH00995:25:23T55JLT4:5:1301:50851:6829,LH00995:25:23T55JLT4:6:1363:3152:25634,LH00995:25:23T55JLT4:6:1363:3160:25648,LH00995:25:23T55JLT4:6:1394:8402:25283,LH00995:25:23T55JLT4:6:2150:38295:10753,LH00995:25:23T55JLT4:8:2265:14672:26755,LH00995:25:23T55JLT4:8:2384:39516:19258,LH00995:25:23T55JLT4:2:2208:6129:22299,LH00995:25:23T55JLT4:6:2441:44071:7165 out-of-frame Tumour-associated_protein(11%)|Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(82%) CDS/splice-site CDS/splice-site 2 7 -/- -/- . 9 ENST00000593068 ENST00000319349 translocation 0.0003705075954057058 0.0007405840033855269 0.0005555457993956163 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--TMEM259 TMEM259--ETV4 ETV4--TMEM259 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr19 chr17 TMEM259 ETV4 1020772 43536479 chr19:1020772-chr17:43536479 -,- STAR-Fusion 1 0 10 0.0338 10 PASS out-of-frame TMEM259--ETV4 ETV4--TMEM259 "[""INTERCHROMOSOMAL[chr19--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.9086 False False False GT AG 10 False 1 ENST00000593068.7 1-225 ENST00000545954.5 86-1338 0.0338 PASS atgtcggagcacgtggagcccgcagctccggggcccgggcccaacggcggcggcggcggcccggcccccgcgcgcgggcctcgcacccccaatctcaaccccaaccccctcatcaacgtgcgcgaccggctcttccacgcgctgttcttcaagatggctgtcacctattcgcggctcttcccgcccgccttccgccgtctcttcgagttcttcgtgctgctcaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG chr19|-|[2]1020772-1020996[0]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] MSEHVEPAAPGPGPNGGGGGPAPARGPRTPNLNPNPLINVRDRLFHALFFKMAVTYSRLFPPAFRRLFEFFVLLKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT TMEM259--ETV4 10 LH00995:25:23T55JLT4:2:2146:16743:22859,LH00995:25:23T55JLT4:2:2180:49605:11117,LH00995:25:23T55JLT4:2:2191:3225:28366,LH00995:25:23T55JLT4:5:1266:5822:10416,LH00995:25:23T55JLT4:6:1278:11177:27679,LH00995:25:23T55JLT4:6:1439:49888:7320,LH00995:25:23T55JLT4:8:1256:39217:23588,LH00995:25:23T55JLT4:8:1320:5571:17044,LH00995:25:23T55JLT4:8:1344:50001:26488,LH00995:25:23T55JLT4:8:2474:30488:27273 YES_LDAS GT 1.9329 chr19:1020772:- TMEM259^ENSG00000182087.14 Membralin-PARTIAL|35-225~|3.1e-172 ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 FRAMESHIFT AG 1.9086 chr17:43536479:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr19--chr17]""]" False chr19:1020772-chr17:43536479 10.0 0.0 10 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--TMEM259 TMEM259--ETV4 ETV4--TMEM259 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr19 chr17 TMEM259 ETV4 1020772 43536479 chr19:1020772-chr17:43536479 -,- STAR-Fusion 1 0 9 0.0305 9 PASS out-of-frame TMEM259--ETV4 ETV4--TMEM259 "[""INTERCHROMOSOMAL[chr19--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.9086 False False False GT AG 9 False 1 ENST00000593068.7 1-225 ENST00000545954.5 86-1338 0.0305 PASS atgtcggagcacgtggagcccgcagctccggggcccgggcccaacggcggcggcggcggcccggcccccgcgcgcgggcctcgcacccccaatctcaaccccaaccccctcatcaacgtgcgcgaccggctcttccacgcgctgttcttcaagatggctgtcacctattcgcggctcttcccgcccgccttccgccgtctcttcgagttcttcgtgctgctcaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG chr19|-|[2]1020772-1020996[0]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] MSEHVEPAAPGPGPNGGGGGPAPARGPRTPNLNPNPLINVRDRLFHALFFKMAVTYSRLFPPAFRRLFEFFVLLKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT TMEM259--ETV4 9 LH00995:25:23T55JLT4:2:2208:6129:22299,LH00995:25:23T55JLT4:5:1173:12447:2247,LH00995:25:23T55JLT4:5:1301:50851:6829,LH00995:25:23T55JLT4:6:1363:3152:25634,LH00995:25:23T55JLT4:6:1394:8402:25283,LH00995:25:23T55JLT4:6:2150:38295:10753,LH00995:25:23T55JLT4:6:2441:44071:7165,LH00995:25:23T55JLT4:8:2265:14672:26755,LH00995:25:23T55JLT4:8:2384:39516:19258 YES_LDAS GT 1.9329 chr19:1020772:- TMEM259^ENSG00000182087.14 Membralin-PARTIAL|35-225~|3.1e-172 ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 FRAMESHIFT AG 1.9086 chr17:43536479:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr19--chr17]""]" False chr19:1020772-chr17:43536479 9.0 0.0 9 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--TMEM259 TMEM259--ETV4 ETV4--TMEM259 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr19 chr17 TMEM259 ETV4 1020772 43536479 chr19:1020772-chr17:43536479 -,- Arriba 1 0 9 9 PASS out-of-frame TMEM259--ETV4 ETV4--TMEM259 confidence:medium;duplicates(2) medium translocation CDS/splice-site CDS/splice-site 5396 9445 2.0 0.0 0.0 0.0 2 7 False duplicates(2) FAIL False chr19:1020772 chr17:43536479 chr19:1020772-chr17:43536479 . . medium 5396 9445 upstream downstream 0 confidence_below_min(medium<high) duplicates(2) CTGTCACCTATTCGCGGCTCTTCCCGCCCGCCTTCCGCCGTCTCTTCGAGTTCTTCGTGCTGCTCAAG|CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAG TMEM259 ETV4 ENSG00000182087 ENSG00000175832 VTYSRLFPPAFRRLFEFFVLLK|lryqtvmsslflisiqkt* LH00995:25:23T55JLT4:5:1173:12447:2247,LH00995:25:23T55JLT4:5:1173:12455:2261,LH00995:25:23T55JLT4:5:1301:50851:6829,LH00995:25:23T55JLT4:6:1363:3152:25634,LH00995:25:23T55JLT4:6:1363:3160:25648,LH00995:25:23T55JLT4:6:1394:8402:25283,LH00995:25:23T55JLT4:6:2150:38295:10753,LH00995:25:23T55JLT4:8:2265:14672:26755,LH00995:25:23T55JLT4:8:2384:39516:19258,LH00995:25:23T55JLT4:2:2208:6129:22299,LH00995:25:23T55JLT4:6:2441:44071:7165 out-of-frame Tumour-associated_protein(11%)|Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(82%) CDS/splice-site CDS/splice-site 2 7 -/- -/- . 9 ENST00000593068 ENST00000319349 translocation 0.0003705075954057058 0.0007405840033855269 0.0005555457993956163 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--TMEM259 TMEM259--ETV4 ETV4--TMEM259 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr19 chr17 TMEM259 ETV4 1020772 43536479 chr19:1020772-chr17:43536479 -,- Arriba 1 0 10 10 PASS out-of-frame TMEM259--ETV4 ETV4--TMEM259 confidence:medium;duplicates(5) medium translocation CDS/splice-site CDS/splice-site 5602 10369 5.0 0.0 0.0 0.0 2 8 False duplicates(5) FAIL False chr19:1020772 chr17:43536479 chr19:1020772-chr17:43536479 . . medium 5602 10369 upstream downstream 0 confidence_below_min(medium<high) duplicates(5) CCCCCAATCTCAACCCCAACCCCCTCATCAACGTGCGCGACCGGCTCTTCCACGCGCTGTTCTTCAAGATGGCTGTCACCTATTCGCGGCTCTTCCCGCCCGCCTTCCGCCGTCTCTTCGAGTTCTTCGTGCTGCTCAAG|CTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACC___TAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAA TMEM259 ETV4 ENSG00000182087 ENSG00000175832 PNLNPNPLINVRDRLFHALFFKMAVTYSRLFPPAFRRLFEFFVLLK|lryqtvmsslflisiqkt* LH00995:25:23T55JLT4:2:2180:49605:11117,LH00995:25:23T55JLT4:2:2191:3225:28366,LH00995:25:23T55JLT4:5:1266:5822:10416,LH00995:25:23T55JLT4:5:1307:12876:24344,LH00995:25:23T55JLT4:5:1394:3799:29025,LH00995:25:23T55JLT4:6:1278:11177:27679,LH00995:25:23T55JLT4:6:1439:49888:7320,LH00995:25:23T55JLT4:6:1439:49896:7306,LH00995:25:23T55JLT4:6:1454:9810:16512,LH00995:25:23T55JLT4:8:1256:39217:23588,LH00995:25:23T55JLT4:8:1320:5571:17044,LH00995:25:23T55JLT4:8:1344:50001:26488,LH00995:25:23T55JLT4:8:1449:23895:10304,LH00995:25:23T55JLT4:2:2146:16743:22859,LH00995:25:23T55JLT4:8:2474:30488:27273 out-of-frame Tumour-associated_protein(11%)|Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(82%) CDS/splice-site CDS/splice-site 2 8 -/- -/- . 10 ENST00000593068 ENST00000319349 translocation 0.00035688793718772306 0.0007709357232340753 0.0005639118302108992 1173_NWE Arriba
fp_audit 1173_NWE fusion ETV4--TMEM259 TMEM259--ETV4 ETV4--TMEM259 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 BND chr19 chr17 TMEM259 ETV4 1020772 43536479 chr19:1020772-chr17:43536479 -,- STAR-Fusion 1 0 9 0.0305 9 PASS out-of-frame TMEM259--ETV4 ETV4--TMEM259 "[""INTERCHROMOSOMAL[chr19--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.9086 False False False GT AG 9 False 1 ENST00000593068.7 1-225 ENST00000545954.5 86-1338 0.0305 PASS atgtcggagcacgtggagcccgcagctccggggcccgggcccaacggcggcggcggcggcccggcccccgcgcgcgggcctcgcacccccaatctcaaccccaaccccctcatcaacgtgcgcgaccggctcttccacgcgctgttcttcaagatggctgtcacctattcgcggctcttcccgcccgccttccgccgtctcttcgagttcttcgtgctgctcaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG chr19|-|[2]1020772-1020996[0]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] MSEHVEPAAPGPGPNGGGGGPAPARGPRTPNLNPNPLINVRDRLFHALFFKMAVTYSRLFPPAFRRLFEFFVLLKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT TMEM259--ETV4 9 LH00995:25:23T55JLT4:2:2208:6129:22299,LH00995:25:23T55JLT4:5:1173:12447:2247,LH00995:25:23T55JLT4:5:1301:50851:6829,LH00995:25:23T55JLT4:6:1363:3152:25634,LH00995:25:23T55JLT4:6:1394:8402:25283,LH00995:25:23T55JLT4:6:2150:38295:10753,LH00995:25:23T55JLT4:6:2441:44071:7165,LH00995:25:23T55JLT4:8:2265:14672:26755,LH00995:25:23T55JLT4:8:2384:39516:19258 YES_LDAS GT 1.9329 chr19:1020772:- TMEM259^ENSG00000182087.14 Membralin-PARTIAL|35-225~|3.1e-172 ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 FRAMESHIFT AG 1.9086 chr17:43536479:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr19--chr17]""]" False chr19:1020772-chr17:43536479 9.0 0.0 9 1173_NWE STAR-Fusion
fp_audit 1173_NWE fusion ETV4--TMEM259 TMEM259--ETV4 ETV4--TMEM259 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_NWE altera_exact 1173 clinical patient ovary Ovarian 68 unknown False 1173_NWE_T1_RNA_SLD_01 tRNA altera_inhouse ssf 15.00 35.00 58.41 AIH_Ext12_RNA F01 False dev_rna_exp0016_lib_s06 200.00 91.75 dev_rna_exp0016 F01 False 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 BND chr19 chr17 TMEM259 ETV4 1020772 43536479 chr19:1020772-chr17:43536479 -,- STAR-Fusion 1 0 10 0.0338 10 PASS out-of-frame TMEM259--ETV4 ETV4--TMEM259 "[""INTERCHROMOSOMAL[chr19--chr17]""]" ONLY_REF_SPLICE YES_LDAS 1.9086 False False False GT AG 10 False 1 ENST00000593068.7 1-225 ENST00000545954.5 86-1338 0.0338 PASS atgtcggagcacgtggagcccgcagctccggggcccgggcccaacggcggcggcggcggcccggcccccgcgcgcgggcctcgcacccccaatctcaaccccaaccccctcatcaacgtgcgcgaccggctcttccacgcgctgttcttcaagatggctgtcacctattcgcggctcttcccgcccgccttccgccgtctcttcgagttcttcgtgctgctcaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG chr19|-|[2]1020772-1020996[0]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] MSEHVEPAAPGPGPNGGGGGPAPARGPRTPNLNPNPLINVRDRLFHALFFKMAVTYSRLFPPAFRRLFEFFVLLKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT TMEM259--ETV4 10 LH00995:25:23T55JLT4:2:2146:16743:22859,LH00995:25:23T55JLT4:2:2180:49605:11117,LH00995:25:23T55JLT4:2:2191:3225:28366,LH00995:25:23T55JLT4:5:1266:5822:10416,LH00995:25:23T55JLT4:6:1278:11177:27679,LH00995:25:23T55JLT4:6:1439:49888:7320,LH00995:25:23T55JLT4:8:1256:39217:23588,LH00995:25:23T55JLT4:8:1320:5571:17044,LH00995:25:23T55JLT4:8:1344:50001:26488,LH00995:25:23T55JLT4:8:2474:30488:27273 YES_LDAS GT 1.9329 chr19:1020772:- TMEM259^ENSG00000182087.14 Membralin-PARTIAL|35-225~|3.1e-172 ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 FRAMESHIFT AG 1.9086 chr17:43536479:- ETV4^ENSG00000175832.13 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr19--chr17]""]" False chr19:1020772-chr17:43536479 10.0 0.0 10 1173_NWE STAR-Fusion
fp_audit 1173_PCB fusion FGFR3--TACC3 FGFR3--TACC3 FGFR3--TACC3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_PCB altera_exact 1173 clinical patient ovary Ovarian 76 unknown False 1173_PCB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 34.40 35.00 45.47 AIH_Ext12_RNA D01 False dev_rna_exp0016_lib_s04 200.00 85.65 dev_rna_exp0016 D01 False 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 BND chr4 chr4 FGFR3 TACC3 1806934 1739702 chr4:1806934-chr4:1739702 +,+ Arriba 1 0 29 29 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 confidence:high;duplicates(23) high duplication CDS/splice-site CDS/splice-site 256 882 23.0 0.0 0.0 0.0 8 21 True duplicates(23) PASS False chr4:1806934 chr4:1739702 chr4:1806934-chr4:1739702 . . high 256 882 downstream upstream 0 duplicates(23) TGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAA FGFR3 TACC3 ENSG00000068078 ENSG00000013810 CTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVL LH00995:25:23T55JLT4:1:1274:4325:19762,LH00995:25:23T55JLT4:1:2240:21427:11551,LH00995:25:23T55JLT4:1:2260:19656:21150,LH00995:25:23T55JLT4:1:2260:19664:21164,LH00995:25:23T55JLT4:1:2437:11711:1112,LH00995:25:23T55JLT4:2:1386:11032:24933,LH00995:25:23T55JLT4:2:1425:5538:15279,LH00995:25:23T55JLT4:2:2125:13968:16960,LH00995:25:23T55JLT4:2:2482:35512:2429,LH00995:25:23T55JLT4:3:1112:27519:23588,LH00995:25:23T55JLT4:3:1132:27462:10907,LH00995:25:23T55JLT4:3:1202:3953:13345,LH00995:25:23T55JLT4:3:1285:50940:19762,LH00995:25:23T55JLT4:3:1328:17690:29263,LH00995:25:23T55JLT4:4:1313:17552:29025,LH00995:25:23T55JLT4:4:1479:3848:18179,LH00995:25:23T55JLT4:4:2136:30569:15895,LH00995:25:23T55JLT4:4:2145:8742:10823,LH00995:25:23T55JLT4:4:2202:38756:27553,LH00995:25:23T55JLT4:5:2155:2497:2079,LH00995:25:23T55JLT4:6:2126:41499:4167,LH00995:25:23T55JLT4:6:2143:24348:3999,LH00995:25:23T55JLT4:6:2429:3451:6899,LH00995:25:23T55JLT4:7:1135:7731:6913,LH00995:25:23T55JLT4:7:1353:32300:15979,LH00995:25:23T55JLT4:7:2203:50624:27091,LH00995:25:23T55JLT4:7:2221:9721:4587,LH00995:25:23T55JLT4:7:2266:6954:24905,LH00995:25:23T55JLT4:7:2359:25885:11201,LH00995:25:23T55JLT4:7:2372:5158:25465,LH00995:25:23T55JLT4:8:1184:41749:21864,LH00995:25:23T55JLT4:8:1194:30917:29109,LH00995:25:23T55JLT4:8:1194:30925:29095,LH00995:25:23T55JLT4:8:1294:23070:28044,LH00995:25:23T55JLT4:8:1470:26030:14059,LH00995:25:23T55JLT4:8:1470:26039:14073,LH00995:25:23T55JLT4:8:1470:26047:14059,LH00995:25:23T55JLT4:8:2329:37138:15783,LH00995:25:23T55JLT4:1:1425:14009:16694,LH00995:25:23T55JLT4:1:2155:38578:9786,LH00995:25:23T55JLT4:1:2326:43003:28969,LH00995:25:23T55JLT4:1:2397:12876:7418,LH00995:25:23T55JLT4:2:2251:43934:10010,LH00995:25:23T55JLT4:2:2275:4374:25283,LH00995:25:23T55JLT4:3:1313:9292:23518,LH00995:25:23T55JLT4:3:2158:23862:16722,LH00995:25:23T55JLT4:4:1149:34468:10907,LH00995:25:23T55JLT4:4:1429:11032:26334,LH00995:25:23T55JLT4:5:1356:18604:25493,LH00995:25:23T55JLT4:6:1253:27228:1364,LH00995:25:23T55JLT4:6:1374:35010:17282,LH00995:25:23T55JLT4:6:2333:44395:8763 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%) CDS/splice-site CDS/splice-site 8 21 +/+ +/+ . 29 ENST00000412135 ENST00000651472 duplication 0.030303030303030304 0.023255813953488372 0.026779422128259338 1173_PCB Arriba
fp_audit 1173_PCB fusion FGFR3--TACC3 FGFR3--TACC3 FGFR3--TACC3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_PCB altera_exact 1173 clinical patient ovary Ovarian 76 unknown False 1173_PCB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 34.40 35.00 45.47 AIH_Ext12_RNA D01 False dev_rna_exp0016_lib_s04 200.00 85.65 dev_rna_exp0016 D01 False 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_2 BND chr4 chr4 FGFR3 TACC3 1806934 1739702 chr4:1806934-chr4:1739702 +,+ Arriba 1 0 40 40 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 confidence:high;duplicates(120) high duplication CDS/splice-site CDS/splice-site 831 3038 120.0 0.0 0.0 0.0 19 21 True duplicates(120) PASS False chr4:1806934 chr4:1739702 chr4:1806934-chr4:1739702 . . high 831 3038 downstream upstream 0 duplicates(120) ACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACT FGFR3 TACC3 ENSG00000068078 ENSG00000013810 THDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKE LH00995:25:23T55JLT4:1:1172:43553:20449,LH00995:25:23T55JLT4:1:1181:14535:26040,LH00995:25:23T55JLT4:1:1290:34946:20869,LH00995:25:23T55JLT4:1:1343:15918:23223,LH00995:25:23T55JLT4:1:1343:15934:23223,LH00995:25:23T55JLT4:1:1357:50098:3284,LH00995:25:23T55JLT4:1:1357:50106:3298,LH00995:25:23T55JLT4:1:1409:49071:13359,LH00995:25:23T55JLT4:1:1413:34873:2695,LH00995:25:23T55JLT4:1:1465:34582:4881,LH00995:25:23T55JLT4:1:2129:44953:11411,LH00995:25:23T55JLT4:1:2192:27624:12056,LH00995:25:23T55JLT4:1:2218:50948:12406,LH00995:25:23T55JLT4:1:2336:33595:22509,LH00995:25:23T55JLT4:1:2360:32130:23448,LH00995:25:23T55JLT4:2:1135:8839:13765,LH00995:25:23T55JLT4:2:1135:8847:13751,LH00995:25:23T55JLT4:2:1138:41507:22929,LH00995:25:23T55JLT4:2:1281:48949:28842,LH00995:25:23T55JLT4:2:1288:22673:28590,LH00995:25:23T55JLT4:2:1333:46959:26657,LH00995:25:23T55JLT4:2:1377:2877:14396,LH00995:25:23T55JLT4:2:1396:42761:24260,LH00995:25:23T55JLT4:2:1406:9495:2121,LH00995:25:23T55JLT4:2:2245:15732:16147,LH00995:25:23T55JLT4:2:2384:41151:20155,LH00995:25:23T55JLT4:2:2460:27381:27749,LH00995:25:23T55JLT4:3:1126:40495:15657,LH00995:25:23T55JLT4:3:1227:39767:9379,LH00995:25:23T55JLT4:3:1282:5466:24709,LH00995:25:23T55JLT4:3:1317:5450:8903,LH00995:25:23T55JLT4:3:1332:47809:10024,LH00995:25:23T55JLT4:3:1341:12755:4909,LH00995:25:23T55JLT4:3:1379:43764:24737,LH00995:25:23T55JLT4:3:1379:43772:24751,LH00995:25:23T55JLT4:3:1396:26071:6927,LH00995:25:23T55JLT4:3:1420:22341:18207,LH00995:25:23T55JLT4:3:1420:48221:27862,LH00995:25:23T55JLT4:3:1435:41539:10514,LH00995:25:23T55JLT4:3:1438:48569:15489,LH00995:25:23T55JLT4:3:1477:49419:13597,LH00995:25:23T55JLT4:3:2130:17447:28674,LH00995:25:23T55JLT4:3:2248:15077:12070,LH00995:25:23T55JLT4:3:2284:31645:2597,LH00995:25:23T55JLT4:3:2337:35318:23083,LH00995:25:23T55JLT4:3:2363:37292:12658,LH00995:25:23T55JLT4:3:2421:32227:29445,LH00995:25:23T55JLT4:3:2427:44872:10318,LH00995:25:23T55JLT4:3:2448:18895:9239,LH00995:25:23T55JLT4:3:2455:38109:29683,LH00995:25:23T55JLT4:4:1145:5967:29305,LH00995:25:23T55JLT4:4:1160:8710:24947,LH00995:25:23T55JLT4:4:1169:16015:17731,LH00995:25:23T55JLT4:4:1201:18264:8763,LH00995:25:23T55JLT4:4:1231:45171:2653,LH00995:25:23T55JLT4:4:1364:22220:16484,LH00995:25:23T55JLT4:4:2131:26176:17478,LH00995:25:23T55JLT4:4:2148:37276:15068,LH00995:25:23T55JLT4:4:2212:3144:10038,LH00995:25:23T55JLT4:4:2214:3888:24330,LH00995:25:23T55JLT4:4:2326:44815:24933,LH00995:25:23T55JLT4:4:2331:37009:4994,LH00995:25:23T55JLT4:5:2204:16500:19861,LH00995:25:23T55JLT4:5:2364:2723:14382,LH00995:25:23T55JLT4:5:2381:37178:23700,LH00995:25:23T55JLT4:6:1148:8362:3606,LH00995:25:23T55JLT4:6:1201:40277:6171,LH00995:25:23T55JLT4:6:1211:31685:15166,LH00995:25:23T55JLT4:6:1242:50139:21766,LH00995:25:23T55JLT4:6:1246:23749:8595,LH00995:25:23T55JLT4:6:2409:35471:2107,LH00995:25:23T55JLT4:6:2450:14680:2471,LH00995:25:23T55JLT4:7:1139:37931:10290,LH00995:25:23T55JLT4:7:1198:43990:2990,LH00995:25:23T55JLT4:7:1220:1210:7278,LH00995:25:23T55JLT4:7:1234:40455:16231,LH00995:25:23T55JLT4:7:1280:26168:20463,LH00995:25:23T55JLT4:7:1401:18021:6801,LH00995:25:23T55JLT4:7:1411:51740:11705,LH00995:25:23T55JLT4:7:1426:12358:11509,LH00995:25:23T55JLT4:7:1468:10732:28898,LH00995:25:23T55JLT4:7:2166:49548:4041,LH00995:25:23T55JLT4:7:2167:37429:1518,LH00995:25:23T55JLT4:7:2188:12698:5316,LH00995:25:23T55JLT4:7:2398:34501:26797,LH00995:25:23T55JLT4:7:2408:25416:11817,LH00995:25:23T55JLT4:7:2481:11315:19370,LH00995:25:23T55JLT4:8:1276:28385:14438,LH00995:25:23T55JLT4:8:1276:30391:27385,LH00995:25:23T55JLT4:8:1276:9729:22173,LH00995:25:23T55JLT4:8:1297:32850:1126,LH00995:25:23T55JLT4:8:1337:31807:27707,LH00995:25:23T55JLT4:8:1460:14098:7852,LH00995:25:23T55JLT4:8:1476:7140:20631,LH00995:25:23T55JLT4:1:1392:44921:28926,LH00995:25:23T55JLT4:1:1394:18491:15797,LH00995:25:23T55JLT4:1:2141:16953:20757,LH00995:25:23T55JLT4:1:2147:21767:2780,LH00995:25:23T55JLT4:1:2221:13693:24807,LH00995:25:23T55JLT4:1:2235:4406:2443,LH00995:25:23T55JLT4:1:2378:5490:13933,LH00995:25:23T55JLT4:1:2420:22058:2892,LH00995:25:23T55JLT4:1:2488:9486:11719,LH00995:25:23T55JLT4:2:1150:37276:15489,LH00995:25:23T55JLT4:2:1322:28619:13975,LH00995:25:23T55JLT4:2:1421:44597:24218,LH00995:25:23T55JLT4:2:1459:22083:18655,LH00995:25:23T55JLT4:2:2109:25917:23223,LH00995:25:23T55JLT4:2:2110:29113:15503,LH00995:25:23T55JLT4:2:2285:38821:4881,LH00995:25:23T55JLT4:2:2364:37267:25087,LH00995:25:23T55JLT4:2:2491:30496:10977,LH00995:25:23T55JLT4:3:1268:5692:7249,LH00995:25:23T55JLT4:3:1369:35285:5960,LH00995:25:23T55JLT4:3:2111:4956:19847,LH00995:25:23T55JLT4:3:2192:24485:20939,LH00995:25:23T55JLT4:3:2228:46021:18529,LH00995:25:23T55JLT4:3:2387:16015:21906,LH00995:25:23T55JLT4:4:1177:51700:16680,LH00995:25:23T55JLT4:4:1230:42364:6367,LH00995:25:23T55JLT4:4:1411:8111:24695,LH00995:25:23T55JLT4:4:2175:6250:12868,LH00995:25:23T55JLT4:4:2278:17762:17899,LH00995:25:23T55JLT4:4:2310:2456:24821,LH00995:25:23T55JLT4:4:2422:42955:27035,LH00995:25:23T55JLT4:5:1145:27770:28926,LH00995:25:23T55JLT4:5:1178:16314:8721,LH00995:25:23T55JLT4:5:1290:39080:26572,LH00995:25:23T55JLT4:5:1343:6226:26194,LH00995:25:23T55JLT4:5:1352:6809:28240,LH00995:25:23T55JLT4:5:1353:4535:9113,LH00995:25:23T55JLT4:5:1487:35593:19664,LH00995:25:23T55JLT4:5:2102:32551:27904,LH00995:25:23T55JLT4:5:2153:7035:29109,LH00995:25:23T55JLT4:5:2162:8087:9632,LH00995:25:23T55JLT4:5:2216:24971:7488,LH00995:25:23T55JLT4:5:2252:24938:17633,LH00995:25:23T55JLT4:5:2252:25399:18067,LH00995:25:23T55JLT4:5:2418:14348:4923,LH00995:25:23T55JLT4:5:2456:38028:21276,LH00995:25:23T55JLT4:5:2468:22123:23462,LH00995:25:23T55JLT4:6:1195:11671:13177,LH00995:25:23T55JLT4:6:1246:40245:24779,LH00995:25:23T55JLT4:6:1330:43642:18782,LH00995:25:23T55JLT4:6:1462:50001:9505,LH00995:25:23T55JLT4:6:2371:35253:28716,LH00995:25:23T55JLT4:6:2432:32324:9716,LH00995:25:23T55JLT4:6:2451:51619:26909,LH00995:25:23T55JLT4:7:1339:38578:15699,LH00995:25:23T55JLT4:7:1446:13863:1981,LH00995:25:23T55JLT4:7:2150:22900:8048,LH00995:25:23T55JLT4:8:1104:31580:8651,LH00995:25:23T55JLT4:8:1258:12520:22327,LH00995:25:23T55JLT4:8:1261:46207:17086,LH00995:25:23T55JLT4:8:1272:49402:3929,LH00995:25:23T55JLT4:8:1277:15311:15895,LH00995:25:23T55JLT4:8:1404:31143:28184,LH00995:25:23T55JLT4:8:2212:24057:6493,LH00995:25:23T55JLT4:8:2220:41652:25704,LH00995:25:23T55JLT4:8:2411:25925:23097 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%) CDS/splice-site CDS/splice-site 19 21 +/+ +/+ . 40 ENST00000412135 ENST00000651472 duplication 0.02235294117647059 0.006864988558352402 0.014608964867411495 1173_PCB Arriba
fp_audit 1173_PCB fusion FGFR3--TACC3 FGFR3--TACC3 FGFR3--TACC3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_PCB altera_exact 1173 clinical patient ovary Ovarian 76 unknown False 1173_PCB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 34.40 35.00 45.47 AIH_Ext12_RNA D01 False dev_rna_exp0016_lib_s04 200.00 85.65 dev_rna_exp0016 D01 False 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 BND chr4 chr4 FGFR3 TACC3 1806934 1739702 chr4:1806934-chr4:1739702 +,+ STAR-Fusion 1 0 29 0.2759 29 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 "[""ChimerKB"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""Klijn_CellLines"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr4:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[48122]""]" ONLY_REF_SPLICE YES_LDAS 1.7819 False False False GT AG 29 True TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA;Klijn_CellLines 1 ENST00000340107.8 1-2280 ENST00000651472.1 1942-2517 0.2759 PASS atgggcgcccctgcctgcgccctcgcgctctgcgtggccgtggccatcgtggccggcgcctcctcggagtccttggggacggagcagcgcgtcgtggggcgagcggcagaagtcccgggcccagagcccggccagcaggagcagttggtcttcggcagcggggatgctgtggagctgagctgtcccccgcccgggggtggtcccatggggcccactgtctgggtcaaggatggcacagggctggtgccctcggagcgtgtcctggtggggccccagcggctgcaggtgctgaatgcctcccacgaggactccggggcctacagctgccggcagcggctcacgcagcgcgtactgtgccacttcagtgtgcgggtgacagacgctccatcctcgggagatgacgaagacggggaggacgaggctgaggacacaggtgtggacacaggggccccttactggacacggcccgagcggatggacaagaagctgctggccgtgccggccgccaacaccgtccgcttccgctgcccagccgctggcaaccccactccctccatctcctggctgaagaacggcagggagttccgcggcgagcaccgcattggaggcatcaagctgcggcatcagcagtggagcctggtcatggaaagcgtggtgccctcggaccgcggcaactacacctgcgtcgtggagaacaagtttggcagcatccggcagacgtacacgctggacgtgctggagcgctccccgcaccggcccatcctgcaggcggggctgccggccaaccagacggcggtgctgggcagcgacgtggagttccactgcaaggtgtacagtgacgcacagccccacatccagtggctcaagcacgtggaggtgaatggcagcaaggtgggcccggacggcacaccctacgttaccgtgctcaagtcctggatcagtgagagtgtggaggccgacgtgcgcctccgcctggccaatgtgtcggagcgggacgggggcgagtacctctgtcgagccaccaatttcataggcgtggccgagaaggccttttggctgagcgttcacgggccccgagcagccgaggaggagctggtggaggctgacgaggcgggcagtgtgtatgcaggcatcctcagctacggggtgggcttcttcctgttcatcctggtggtggcggctgtgacgctctgccgcctgcgcagcccccccaagaaaggcctgggctcccccaccgtgcacaagatctcccgcttcccgctcaagcgacaggtgtccctggagtccaacgcgtccatgagctccaacacaccactggtgcgcatcgcaaggctgtcctcaggggagggccccacgctggccaatgtctccgagctcgagctgcctgccgaccccaaatgggagctgtctcgggcccggctgaccctgggcaagccccttggggagggctgcttcggccaggtggtcatggcggaggccatcggcattgacaaggaccgggccgccaagcctgtcaccgtagccgtgaagatgctgaaagacgatgccactgacaaggacctgtcggacctggtgtctgagatggagatgatgaagatgatcgggaaacacaaaaacatcatcaacctgctgggcgcctgcacgcagggcgggcccctgtacgtgctggtggagtacgcggccaagggtaacctgcgggagtttctgcgggcgcggcggcccccgggcctggactactccttcgacacctgcaagccgcccgaggagcagctcaccttcaaggacctggtgtcctgtgcctaccaggtggcccggggcatggagtacttggcctcccagaagtgcatccacagggacctggctgcccgcaatgtgctggtgaccgaggacaacgtgatgaagatcgcagacttcgggctggcccgggacgtgcacaacctcgactactacaagaagacgaccaacggccggctgcccgtgaagtggatggcgcctgaggccttgtttgaccgagtctacactcaccagagtgacgtctggtcctttggggtcctgctctgggagatcttcacgctggggggctccccgtaccccggcatccctgtggaggagctcttcaagctgctgaaggagggccaccgcatggacaagcccgccaactgcacacacgacctgtacatgatcatgcgggagtgctggcatgccgcgccctcccagaggcccaccttcaagcagctggtggaggacctggaccgtgtccttaccgtgacgtccaccgacGTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGGGAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGGAGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAAAGACCAACTTACCACAGATCTGAACTCCATGGAGAAGTCCTTCTCCGACCTCTTCAAGCGTTTTGAGAAACAGAAAGAGGTGATCGAGGGCTACCGCAAGAACGAAGAGTCACTGAAGAAGTGCGTGGAGGATTACCTGGCAAGGATCACCCAGGAGGGCCAGAGGTACCAAGCCCTGAAGGCCCACGCGGAGGAGAAGCTGCAGCTGGCAAACGAGGAGATCGCCCAGGTCCGGAGCAAGGCCCAGGCGGAAGCGTTGGCCCTCCAGGCCAGCCTGAGGAAGGAGCAGATGCGCATCCAGTCGCTGGAGAAGACAGTGGAGCAGAAGACTAAAGAGAACGAGGAGCTGACCAGGATCTGCGACGACCTCATCTCCAAGATGGAGAAGATCTGA chr4|+|[0]1793935-1794043[0]|[1]1799254-1799523[0]|[1]1799747-1799812[0]|[1]1801367-1801536[2]|[0]1801620-1801743[0]|[1]1801835-1802025[2]|[0]1802914-1803064[0]|[1]1804330-1804520[2]|[0]1804824-1804969[1]|[2]1805355-1805476[0]|[1]1805559-1805669[0]|[1]1805750-1805940[2]|[0]1806051-1806173[2]|[0]1806257-1806327[1]|[2]1806546-1806683[1]|[2]1806829-1806934[2]<==>chr4|+|[0]1739702-1739778[1]|[2]1739959-1740002[0]|[1]1740826-1740986[2]|[0]1744518-1744624[1]|[2]1744712-1744832[2]|[0]1744948-1745013[2] MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGPDGTPYVTVLKSWISESVEADVRLRLANVSERDGGEYLCRATNFIGVAEKAFWLSVHGPRAAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDVKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKEKDQLTTDLNSMEKSFSDLFKRFEKQKEVIEGYRKNEESLKKCVEDYLARITQEGQRYQALKAHAEEKLQLANEEIAQVRSKAQAEALALQASLRKEQMRIQSLEKTVEQKTKENEELTRICDDLISKMEKI* FGFR3--TACC3 29 LH00995:25:23T55JLT4:1:1274:4325:19762,LH00995:25:23T55JLT4:1:1425:14009:16694,LH00995:25:23T55JLT4:1:2155:38578:9786,LH00995:25:23T55JLT4:1:2240:21427:11551,LH00995:25:23T55JLT4:1:2260:19656:21150,LH00995:25:23T55JLT4:1:2326:43003:28969,LH00995:25:23T55JLT4:1:2397:12876:7418,LH00995:25:23T55JLT4:1:2437:11711:1112,LH00995:25:23T55JLT4:2:1386:11032:24933,LH00995:25:23T55JLT4:2:1425:5538:15279,LH00995:25:23T55JLT4:2:2251:43934:10010,LH00995:25:23T55JLT4:2:2482:35512:2429,LH00995:25:23T55JLT4:3:1112:27519:23588,LH00995:25:23T55JLT4:3:1132:27462:10907,LH00995:25:23T55JLT4:3:1202:3953:13345,LH00995:25:23T55JLT4:3:1285:50940:19762,LH00995:25:23T55JLT4:3:1313:9292:23518,LH00995:25:23T55JLT4:3:2158:23862:16722,LH00995:25:23T55JLT4:4:1149:34468:10907,LH00995:25:23T55JLT4:4:1313:17552:29025,LH00995:25:23T55JLT4:4:1479:3848:18179,LH00995:25:23T55JLT4:4:2136:30569:15895,LH00995:25:23T55JLT4:4:2145:8742:10823,LH00995:25:23T55JLT4:4:2202:38756:27553,LH00995:25:23T55JLT4:6:2429:3451:6899,LH00995:25:23T55JLT4:7:2221:9721:4587,LH00995:25:23T55JLT4:7:2266:6954:24905,LH00995:25:23T55JLT4:8:1194:30917:29109,LH00995:25:23T55JLT4:8:1470:26030:14059 YES_LDAS GT 1.8892 chr4:1806934:+ FGFR3^ENSG00000068078.20 I-set|48-110|6.2e-06^ig|49-110|5.6e-05^Ig_3|51-110|1.4e-06^Ig_2|52-115|3.4e-06^V-set|53-80|4.4^C2-set_2|54-85|2.3^Ig_4|56-116|0.006^V-set|94-110|0.043^Ig_6|94-119|0.0043^V-set_CD47|97-111|4.6^ig|161-236|3.6e-11^V-set|164-192|0.27^I-set|166-245|2.5e-18^Ig_3|166-232|1.1e-15^Ig_2|166-240|6.1e-13^C2-set_2|170-195|3.4e-05^Ig_4|185-233|0.024^V-set|206-245|0.00013^V-set_CD47|208-245|0.00099^Ig_6|213-245|0.019^Ig_2|253-342|1.6e-06^I-set|260-355|4.5e-14^Ig_3|260-342|1.8e-13^V-set|260-356|1.1e-07^ig|264-348|2.3e-07^C2-set_2|268-291|0.35^V-set_CD47|274-343|0.026^Ig_4|321-340|1.3^Ig_6|323-341|0.33^FGFR3_TM|371-401|2.3e-17^PK_Tyr_Ser-Thr|474-750|6.3e-107^Pkinase|477-748|4.2e-47^Pkinase_fungal|592-687|1.8e-05 . INFRAME AG 1.7819 chr4:1739702:+ TACC3^ENSG00000013810.20 0 . ONLY_REF_SPLICE "[""ChimerKB"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""Klijn_CellLines"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr4:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[48122]""]" False chr4:1806934-chr4:1739702 29.0 0.0 29 1173_PCB STAR-Fusion
fp_audit 1173_PCB fusion FGFR3--TACC3 FGFR3--TACC3 FGFR3--TACC3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_PCB altera_exact 1173 clinical patient ovary Ovarian 76 unknown False 1173_PCB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 34.40 35.00 45.47 AIH_Ext12_RNA D01 False dev_rna_exp0016_lib_s04 200.00 85.65 dev_rna_exp0016 D01 False 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_2 BND chr4 chr4 FGFR3 TACC3 1806934 1739702 chr4:1806934-chr4:1739702 +,+ STAR-Fusion 1 0 41 0.1775 41 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 "[""ChimerKB"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""Klijn_CellLines"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr4:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[48122]""]" ONLY_REF_SPLICE YES_LDAS 1.7819 False False False GT AG 41 True TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA;Klijn_CellLines 1 ENST00000340107.8 1-2280 ENST00000651472.1 1942-2517 0.1775 PASS atgggcgcccctgcctgcgccctcgcgctctgcgtggccgtggccatcgtggccggcgcctcctcggagtccttggggacggagcagcgcgtcgtggggcgagcggcagaagtcccgggcccagagcccggccagcaggagcagttggtcttcggcagcggggatgctgtggagctgagctgtcccccgcccgggggtggtcccatggggcccactgtctgggtcaaggatggcacagggctggtgccctcggagcgtgtcctggtggggccccagcggctgcaggtgctgaatgcctcccacgaggactccggggcctacagctgccggcagcggctcacgcagcgcgtactgtgccacttcagtgtgcgggtgacagacgctccatcctcgggagatgacgaagacggggaggacgaggctgaggacacaggtgtggacacaggggccccttactggacacggcccgagcggatggacaagaagctgctggccgtgccggccgccaacaccgtccgcttccgctgcccagccgctggcaaccccactccctccatctcctggctgaagaacggcagggagttccgcggcgagcaccgcattggaggcatcaagctgcggcatcagcagtggagcctggtcatggaaagcgtggtgccctcggaccgcggcaactacacctgcgtcgtggagaacaagtttggcagcatccggcagacgtacacgctggacgtgctggagcgctccccgcaccggcccatcctgcaggcggggctgccggccaaccagacggcggtgctgggcagcgacgtggagttccactgcaaggtgtacagtgacgcacagccccacatccagtggctcaagcacgtggaggtgaatggcagcaaggtgggcccggacggcacaccctacgttaccgtgctcaagtcctggatcagtgagagtgtggaggccgacgtgcgcctccgcctggccaatgtgtcggagcgggacgggggcgagtacctctgtcgagccaccaatttcataggcgtggccgagaaggccttttggctgagcgttcacgggccccgagcagccgaggaggagctggtggaggctgacgaggcgggcagtgtgtatgcaggcatcctcagctacggggtgggcttcttcctgttcatcctggtggtggcggctgtgacgctctgccgcctgcgcagcccccccaagaaaggcctgggctcccccaccgtgcacaagatctcccgcttcccgctcaagcgacaggtgtccctggagtccaacgcgtccatgagctccaacacaccactggtgcgcatcgcaaggctgtcctcaggggagggccccacgctggccaatgtctccgagctcgagctgcctgccgaccccaaatgggagctgtctcgggcccggctgaccctgggcaagccccttggggagggctgcttcggccaggtggtcatggcggaggccatcggcattgacaaggaccgggccgccaagcctgtcaccgtagccgtgaagatgctgaaagacgatgccactgacaaggacctgtcggacctggtgtctgagatggagatgatgaagatgatcgggaaacacaaaaacatcatcaacctgctgggcgcctgcacgcagggcgggcccctgtacgtgctggtggagtacgcggccaagggtaacctgcgggagtttctgcgggcgcggcggcccccgggcctggactactccttcgacacctgcaagccgcccgaggagcagctcaccttcaaggacctggtgtcctgtgcctaccaggtggcccggggcatggagtacttggcctcccagaagtgcatccacagggacctggctgcccgcaatgtgctggtgaccgaggacaacgtgatgaagatcgcagacttcgggctggcccgggacgtgcacaacctcgactactacaagaagacgaccaacggccggctgcccgtgaagtggatggcgcctgaggccttgtttgaccgagtctacactcaccagagtgacgtctggtcctttggggtcctgctctgggagatcttcacgctggggggctccccgtaccccggcatccctgtggaggagctcttcaagctgctgaaggagggccaccgcatggacaagcccgccaactgcacacacgacctgtacatgatcatgcgggagtgctggcatgccgcgccctcccagaggcccaccttcaagcagctggtggaggacctggaccgtgtccttaccgtgacgtccaccgacGTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGGGAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGGAGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAAAGACCAACTTACCACAGATCTGAACTCCATGGAGAAGTCCTTCTCCGACCTCTTCAAGCGTTTTGAGAAACAGAAAGAGGTGATCGAGGGCTACCGCAAGAACGAAGAGTCACTGAAGAAGTGCGTGGAGGATTACCTGGCAAGGATCACCCAGGAGGGCCAGAGGTACCAAGCCCTGAAGGCCCACGCGGAGGAGAAGCTGCAGCTGGCAAACGAGGAGATCGCCCAGGTCCGGAGCAAGGCCCAGGCGGAAGCGTTGGCCCTCCAGGCCAGCCTGAGGAAGGAGCAGATGCGCATCCAGTCGCTGGAGAAGACAGTGGAGCAGAAGACTAAAGAGAACGAGGAGCTGACCAGGATCTGCGACGACCTCATCTCCAAGATGGAGAAGATCTGA chr4|+|[0]1793935-1794043[0]|[1]1799254-1799523[0]|[1]1799747-1799812[0]|[1]1801367-1801536[2]|[0]1801620-1801743[0]|[1]1801835-1802025[2]|[0]1802914-1803064[0]|[1]1804330-1804520[2]|[0]1804824-1804969[1]|[2]1805355-1805476[0]|[1]1805559-1805669[0]|[1]1805750-1805940[2]|[0]1806051-1806173[2]|[0]1806257-1806327[1]|[2]1806546-1806683[1]|[2]1806829-1806934[2]<==>chr4|+|[0]1739702-1739778[1]|[2]1739959-1740002[0]|[1]1740826-1740986[2]|[0]1744518-1744624[1]|[2]1744712-1744832[2]|[0]1744948-1745013[2] MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGPDGTPYVTVLKSWISESVEADVRLRLANVSERDGGEYLCRATNFIGVAEKAFWLSVHGPRAAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDVKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKEKDQLTTDLNSMEKSFSDLFKRFEKQKEVIEGYRKNEESLKKCVEDYLARITQEGQRYQALKAHAEEKLQLANEEIAQVRSKAQAEALALQASLRKEQMRIQSLEKTVEQKTKENEELTRICDDLISKMEKI* FGFR3--TACC3 41 LH00995:25:23T55JLT4:1:1172:43553:20449,LH00995:25:23T55JLT4:1:1181:14535:26040,LH00995:25:23T55JLT4:1:1290:34946:20869,LH00995:25:23T55JLT4:1:1357:50098:3284,LH00995:25:23T55JLT4:1:1392:44921:28926,LH00995:25:23T55JLT4:1:1409:49071:13359,LH00995:25:23T55JLT4:1:1465:34582:4881,LH00995:25:23T55JLT4:1:2129:44953:11411,LH00995:25:23T55JLT4:1:2141:16953:20757,LH00995:25:23T55JLT4:1:2147:21767:2780,LH00995:25:23T55JLT4:1:2192:27624:12056,LH00995:25:23T55JLT4:1:2218:50948:12406,LH00995:25:23T55JLT4:1:2221:13693:24807,LH00995:25:23T55JLT4:1:2235:4406:2443,LH00995:25:23T55JLT4:1:2336:33595:22509,LH00995:25:23T55JLT4:1:2360:32130:23448,LH00995:25:23T55JLT4:1:2378:5490:13933,LH00995:25:23T55JLT4:1:2420:22058:2892,LH00995:25:23T55JLT4:1:2488:9486:11719,LH00995:25:23T55JLT4:2:1135:8839:13765,LH00995:25:23T55JLT4:2:1150:37276:15489,LH00995:25:23T55JLT4:2:1281:48949:28842,LH00995:25:23T55JLT4:2:1396:42761:24260,LH00995:25:23T55JLT4:2:1421:44597:24218,LH00995:25:23T55JLT4:2:2109:25917:23223,LH00995:25:23T55JLT4:2:2110:29113:15503,LH00995:25:23T55JLT4:2:2364:37267:25087,LH00995:25:23T55JLT4:2:2460:27381:27749,LH00995:25:23T55JLT4:3:1126:40495:15657,LH00995:25:23T55JLT4:3:1268:5692:7249,LH00995:25:23T55JLT4:3:1341:12755:4909,LH00995:25:23T55JLT4:3:1438:48569:15489,LH00995:25:23T55JLT4:3:1477:49419:13597,LH00995:25:23T55JLT4:3:2363:37292:12658,LH00995:25:23T55JLT4:3:2387:16015:21906,LH00995:25:23T55JLT4:4:1411:8111:24695,LH00995:25:23T55JLT4:4:2175:6250:12868,LH00995:25:23T55JLT4:5:1352:6809:28240,LH00995:25:23T55JLT4:5:2381:37178:23700,LH00995:25:23T55JLT4:6:1195:11671:13177,LH00995:25:23T55JLT4:6:1246:40245:24779 YES_LDAS GT 1.8892 chr4:1806934:+ FGFR3^ENSG00000068078.20 I-set|48-110|6.2e-06^ig|49-110|5.6e-05^Ig_3|51-110|1.4e-06^Ig_2|52-115|3.4e-06^V-set|53-80|4.4^C2-set_2|54-85|2.3^Ig_4|56-116|0.006^V-set|94-110|0.043^Ig_6|94-119|0.0043^V-set_CD47|97-111|4.6^ig|161-236|3.6e-11^V-set|164-192|0.27^I-set|166-245|2.5e-18^Ig_3|166-232|1.1e-15^Ig_2|166-240|6.1e-13^C2-set_2|170-195|3.4e-05^Ig_4|185-233|0.024^V-set|206-245|0.00013^V-set_CD47|208-245|0.00099^Ig_6|213-245|0.019^Ig_2|253-342|1.6e-06^I-set|260-355|4.5e-14^Ig_3|260-342|1.8e-13^V-set|260-356|1.1e-07^ig|264-348|2.3e-07^C2-set_2|268-291|0.35^V-set_CD47|274-343|0.026^Ig_4|321-340|1.3^Ig_6|323-341|0.33^FGFR3_TM|371-401|2.3e-17^PK_Tyr_Ser-Thr|474-750|6.3e-107^Pkinase|477-748|4.2e-47^Pkinase_fungal|592-687|1.8e-05 . INFRAME AG 1.7819 chr4:1739702:+ TACC3^ENSG00000013810.20 0 . ONLY_REF_SPLICE "[""ChimerKB"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""Klijn_CellLines"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr4:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[48122]""]" False chr4:1806934-chr4:1739702 41.0 0.0 41 1173_PCB STAR-Fusion
fp_audit 1173_PCB fusion FGFR3--TACC3 FGFR3--TACC3 FGFR3--TACC3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_PCB altera_exact 1173 clinical patient ovary Ovarian 76 unknown False 1173_PCB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 34.40 35.00 45.47 AIH_Ext12_RNA D01 False dev_rna_exp0016_lib_s04 200.00 85.65 dev_rna_exp0016 D01 False 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_2 BND chr4 chr4 FGFR3 TACC3 1806934 1739702 chr4:1806934-chr4:1739702 +,+ Arriba 1 0 40 40 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 confidence:high;duplicates(120) high duplication CDS/splice-site CDS/splice-site 831 3038 120.0 0.0 0.0 0.0 19 21 True duplicates(120) PASS False chr4:1806934 chr4:1739702 chr4:1806934-chr4:1739702 . . high 831 3038 downstream upstream 0 duplicates(120) ACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACT FGFR3 TACC3 ENSG00000068078 ENSG00000013810 THDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKE LH00995:25:23T55JLT4:1:1172:43553:20449,LH00995:25:23T55JLT4:1:1181:14535:26040,LH00995:25:23T55JLT4:1:1290:34946:20869,LH00995:25:23T55JLT4:1:1343:15918:23223,LH00995:25:23T55JLT4:1:1343:15934:23223,LH00995:25:23T55JLT4:1:1357:50098:3284,LH00995:25:23T55JLT4:1:1357:50106:3298,LH00995:25:23T55JLT4:1:1409:49071:13359,LH00995:25:23T55JLT4:1:1413:34873:2695,LH00995:25:23T55JLT4:1:1465:34582:4881,LH00995:25:23T55JLT4:1:2129:44953:11411,LH00995:25:23T55JLT4:1:2192:27624:12056,LH00995:25:23T55JLT4:1:2218:50948:12406,LH00995:25:23T55JLT4:1:2336:33595:22509,LH00995:25:23T55JLT4:1:2360:32130:23448,LH00995:25:23T55JLT4:2:1135:8839:13765,LH00995:25:23T55JLT4:2:1135:8847:13751,LH00995:25:23T55JLT4:2:1138:41507:22929,LH00995:25:23T55JLT4:2:1281:48949:28842,LH00995:25:23T55JLT4:2:1288:22673:28590,LH00995:25:23T55JLT4:2:1333:46959:26657,LH00995:25:23T55JLT4:2:1377:2877:14396,LH00995:25:23T55JLT4:2:1396:42761:24260,LH00995:25:23T55JLT4:2:1406:9495:2121,LH00995:25:23T55JLT4:2:2245:15732:16147,LH00995:25:23T55JLT4:2:2384:41151:20155,LH00995:25:23T55JLT4:2:2460:27381:27749,LH00995:25:23T55JLT4:3:1126:40495:15657,LH00995:25:23T55JLT4:3:1227:39767:9379,LH00995:25:23T55JLT4:3:1282:5466:24709,LH00995:25:23T55JLT4:3:1317:5450:8903,LH00995:25:23T55JLT4:3:1332:47809:10024,LH00995:25:23T55JLT4:3:1341:12755:4909,LH00995:25:23T55JLT4:3:1379:43764:24737,LH00995:25:23T55JLT4:3:1379:43772:24751,LH00995:25:23T55JLT4:3:1396:26071:6927,LH00995:25:23T55JLT4:3:1420:22341:18207,LH00995:25:23T55JLT4:3:1420:48221:27862,LH00995:25:23T55JLT4:3:1435:41539:10514,LH00995:25:23T55JLT4:3:1438:48569:15489,LH00995:25:23T55JLT4:3:1477:49419:13597,LH00995:25:23T55JLT4:3:2130:17447:28674,LH00995:25:23T55JLT4:3:2248:15077:12070,LH00995:25:23T55JLT4:3:2284:31645:2597,LH00995:25:23T55JLT4:3:2337:35318:23083,LH00995:25:23T55JLT4:3:2363:37292:12658,LH00995:25:23T55JLT4:3:2421:32227:29445,LH00995:25:23T55JLT4:3:2427:44872:10318,LH00995:25:23T55JLT4:3:2448:18895:9239,LH00995:25:23T55JLT4:3:2455:38109:29683,LH00995:25:23T55JLT4:4:1145:5967:29305,LH00995:25:23T55JLT4:4:1160:8710:24947,LH00995:25:23T55JLT4:4:1169:16015:17731,LH00995:25:23T55JLT4:4:1201:18264:8763,LH00995:25:23T55JLT4:4:1231:45171:2653,LH00995:25:23T55JLT4:4:1364:22220:16484,LH00995:25:23T55JLT4:4:2131:26176:17478,LH00995:25:23T55JLT4:4:2148:37276:15068,LH00995:25:23T55JLT4:4:2212:3144:10038,LH00995:25:23T55JLT4:4:2214:3888:24330,LH00995:25:23T55JLT4:4:2326:44815:24933,LH00995:25:23T55JLT4:4:2331:37009:4994,LH00995:25:23T55JLT4:5:2204:16500:19861,LH00995:25:23T55JLT4:5:2364:2723:14382,LH00995:25:23T55JLT4:5:2381:37178:23700,LH00995:25:23T55JLT4:6:1148:8362:3606,LH00995:25:23T55JLT4:6:1201:40277:6171,LH00995:25:23T55JLT4:6:1211:31685:15166,LH00995:25:23T55JLT4:6:1242:50139:21766,LH00995:25:23T55JLT4:6:1246:23749:8595,LH00995:25:23T55JLT4:6:2409:35471:2107,LH00995:25:23T55JLT4:6:2450:14680:2471,LH00995:25:23T55JLT4:7:1139:37931:10290,LH00995:25:23T55JLT4:7:1198:43990:2990,LH00995:25:23T55JLT4:7:1220:1210:7278,LH00995:25:23T55JLT4:7:1234:40455:16231,LH00995:25:23T55JLT4:7:1280:26168:20463,LH00995:25:23T55JLT4:7:1401:18021:6801,LH00995:25:23T55JLT4:7:1411:51740:11705,LH00995:25:23T55JLT4:7:1426:12358:11509,LH00995:25:23T55JLT4:7:1468:10732:28898,LH00995:25:23T55JLT4:7:2166:49548:4041,LH00995:25:23T55JLT4:7:2167:37429:1518,LH00995:25:23T55JLT4:7:2188:12698:5316,LH00995:25:23T55JLT4:7:2398:34501:26797,LH00995:25:23T55JLT4:7:2408:25416:11817,LH00995:25:23T55JLT4:7:2481:11315:19370,LH00995:25:23T55JLT4:8:1276:28385:14438,LH00995:25:23T55JLT4:8:1276:30391:27385,LH00995:25:23T55JLT4:8:1276:9729:22173,LH00995:25:23T55JLT4:8:1297:32850:1126,LH00995:25:23T55JLT4:8:1337:31807:27707,LH00995:25:23T55JLT4:8:1460:14098:7852,LH00995:25:23T55JLT4:8:1476:7140:20631,LH00995:25:23T55JLT4:1:1392:44921:28926,LH00995:25:23T55JLT4:1:1394:18491:15797,LH00995:25:23T55JLT4:1:2141:16953:20757,LH00995:25:23T55JLT4:1:2147:21767:2780,LH00995:25:23T55JLT4:1:2221:13693:24807,LH00995:25:23T55JLT4:1:2235:4406:2443,LH00995:25:23T55JLT4:1:2378:5490:13933,LH00995:25:23T55JLT4:1:2420:22058:2892,LH00995:25:23T55JLT4:1:2488:9486:11719,LH00995:25:23T55JLT4:2:1150:37276:15489,LH00995:25:23T55JLT4:2:1322:28619:13975,LH00995:25:23T55JLT4:2:1421:44597:24218,LH00995:25:23T55JLT4:2:1459:22083:18655,LH00995:25:23T55JLT4:2:2109:25917:23223,LH00995:25:23T55JLT4:2:2110:29113:15503,LH00995:25:23T55JLT4:2:2285:38821:4881,LH00995:25:23T55JLT4:2:2364:37267:25087,LH00995:25:23T55JLT4:2:2491:30496:10977,LH00995:25:23T55JLT4:3:1268:5692:7249,LH00995:25:23T55JLT4:3:1369:35285:5960,LH00995:25:23T55JLT4:3:2111:4956:19847,LH00995:25:23T55JLT4:3:2192:24485:20939,LH00995:25:23T55JLT4:3:2228:46021:18529,LH00995:25:23T55JLT4:3:2387:16015:21906,LH00995:25:23T55JLT4:4:1177:51700:16680,LH00995:25:23T55JLT4:4:1230:42364:6367,LH00995:25:23T55JLT4:4:1411:8111:24695,LH00995:25:23T55JLT4:4:2175:6250:12868,LH00995:25:23T55JLT4:4:2278:17762:17899,LH00995:25:23T55JLT4:4:2310:2456:24821,LH00995:25:23T55JLT4:4:2422:42955:27035,LH00995:25:23T55JLT4:5:1145:27770:28926,LH00995:25:23T55JLT4:5:1178:16314:8721,LH00995:25:23T55JLT4:5:1290:39080:26572,LH00995:25:23T55JLT4:5:1343:6226:26194,LH00995:25:23T55JLT4:5:1352:6809:28240,LH00995:25:23T55JLT4:5:1353:4535:9113,LH00995:25:23T55JLT4:5:1487:35593:19664,LH00995:25:23T55JLT4:5:2102:32551:27904,LH00995:25:23T55JLT4:5:2153:7035:29109,LH00995:25:23T55JLT4:5:2162:8087:9632,LH00995:25:23T55JLT4:5:2216:24971:7488,LH00995:25:23T55JLT4:5:2252:24938:17633,LH00995:25:23T55JLT4:5:2252:25399:18067,LH00995:25:23T55JLT4:5:2418:14348:4923,LH00995:25:23T55JLT4:5:2456:38028:21276,LH00995:25:23T55JLT4:5:2468:22123:23462,LH00995:25:23T55JLT4:6:1195:11671:13177,LH00995:25:23T55JLT4:6:1246:40245:24779,LH00995:25:23T55JLT4:6:1330:43642:18782,LH00995:25:23T55JLT4:6:1462:50001:9505,LH00995:25:23T55JLT4:6:2371:35253:28716,LH00995:25:23T55JLT4:6:2432:32324:9716,LH00995:25:23T55JLT4:6:2451:51619:26909,LH00995:25:23T55JLT4:7:1339:38578:15699,LH00995:25:23T55JLT4:7:1446:13863:1981,LH00995:25:23T55JLT4:7:2150:22900:8048,LH00995:25:23T55JLT4:8:1104:31580:8651,LH00995:25:23T55JLT4:8:1258:12520:22327,LH00995:25:23T55JLT4:8:1261:46207:17086,LH00995:25:23T55JLT4:8:1272:49402:3929,LH00995:25:23T55JLT4:8:1277:15311:15895,LH00995:25:23T55JLT4:8:1404:31143:28184,LH00995:25:23T55JLT4:8:2212:24057:6493,LH00995:25:23T55JLT4:8:2220:41652:25704,LH00995:25:23T55JLT4:8:2411:25925:23097 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%) CDS/splice-site CDS/splice-site 19 21 +/+ +/+ . 40 ENST00000412135 ENST00000651472 duplication 0.02235294117647059 0.006864988558352402 0.014608964867411495 1173_PCB Arriba
fp_audit 1173_PCB fusion FGFR3--TACC3 FGFR3--TACC3 FGFR3--TACC3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_PCB altera_exact 1173 clinical patient ovary Ovarian 76 unknown False 1173_PCB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 34.40 35.00 45.47 AIH_Ext12_RNA D01 False dev_rna_exp0016_lib_s04 200.00 85.65 dev_rna_exp0016 D01 False 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 BND chr4 chr4 FGFR3 TACC3 1806934 1739702 chr4:1806934-chr4:1739702 +,+ Arriba 1 0 29 29 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 confidence:high;duplicates(23) high duplication CDS/splice-site CDS/splice-site 256 882 23.0 0.0 0.0 0.0 8 21 True duplicates(23) PASS False chr4:1806934 chr4:1739702 chr4:1806934-chr4:1739702 . . high 256 882 downstream upstream 0 duplicates(23) TGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAA FGFR3 TACC3 ENSG00000068078 ENSG00000013810 CTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVL LH00995:25:23T55JLT4:1:1274:4325:19762,LH00995:25:23T55JLT4:1:2240:21427:11551,LH00995:25:23T55JLT4:1:2260:19656:21150,LH00995:25:23T55JLT4:1:2260:19664:21164,LH00995:25:23T55JLT4:1:2437:11711:1112,LH00995:25:23T55JLT4:2:1386:11032:24933,LH00995:25:23T55JLT4:2:1425:5538:15279,LH00995:25:23T55JLT4:2:2125:13968:16960,LH00995:25:23T55JLT4:2:2482:35512:2429,LH00995:25:23T55JLT4:3:1112:27519:23588,LH00995:25:23T55JLT4:3:1132:27462:10907,LH00995:25:23T55JLT4:3:1202:3953:13345,LH00995:25:23T55JLT4:3:1285:50940:19762,LH00995:25:23T55JLT4:3:1328:17690:29263,LH00995:25:23T55JLT4:4:1313:17552:29025,LH00995:25:23T55JLT4:4:1479:3848:18179,LH00995:25:23T55JLT4:4:2136:30569:15895,LH00995:25:23T55JLT4:4:2145:8742:10823,LH00995:25:23T55JLT4:4:2202:38756:27553,LH00995:25:23T55JLT4:5:2155:2497:2079,LH00995:25:23T55JLT4:6:2126:41499:4167,LH00995:25:23T55JLT4:6:2143:24348:3999,LH00995:25:23T55JLT4:6:2429:3451:6899,LH00995:25:23T55JLT4:7:1135:7731:6913,LH00995:25:23T55JLT4:7:1353:32300:15979,LH00995:25:23T55JLT4:7:2203:50624:27091,LH00995:25:23T55JLT4:7:2221:9721:4587,LH00995:25:23T55JLT4:7:2266:6954:24905,LH00995:25:23T55JLT4:7:2359:25885:11201,LH00995:25:23T55JLT4:7:2372:5158:25465,LH00995:25:23T55JLT4:8:1184:41749:21864,LH00995:25:23T55JLT4:8:1194:30917:29109,LH00995:25:23T55JLT4:8:1194:30925:29095,LH00995:25:23T55JLT4:8:1294:23070:28044,LH00995:25:23T55JLT4:8:1470:26030:14059,LH00995:25:23T55JLT4:8:1470:26039:14073,LH00995:25:23T55JLT4:8:1470:26047:14059,LH00995:25:23T55JLT4:8:2329:37138:15783,LH00995:25:23T55JLT4:1:1425:14009:16694,LH00995:25:23T55JLT4:1:2155:38578:9786,LH00995:25:23T55JLT4:1:2326:43003:28969,LH00995:25:23T55JLT4:1:2397:12876:7418,LH00995:25:23T55JLT4:2:2251:43934:10010,LH00995:25:23T55JLT4:2:2275:4374:25283,LH00995:25:23T55JLT4:3:1313:9292:23518,LH00995:25:23T55JLT4:3:2158:23862:16722,LH00995:25:23T55JLT4:4:1149:34468:10907,LH00995:25:23T55JLT4:4:1429:11032:26334,LH00995:25:23T55JLT4:5:1356:18604:25493,LH00995:25:23T55JLT4:6:1253:27228:1364,LH00995:25:23T55JLT4:6:1374:35010:17282,LH00995:25:23T55JLT4:6:2333:44395:8763 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%) CDS/splice-site CDS/splice-site 8 21 +/+ +/+ . 29 ENST00000412135 ENST00000651472 duplication 0.030303030303030304 0.023255813953488372 0.026779422128259338 1173_PCB Arriba
fp_audit 1173_PCB fusion FGFR3--TACC3 FGFR3--TACC3 FGFR3--TACC3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_PCB altera_exact 1173 clinical patient ovary Ovarian 76 unknown False 1173_PCB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 34.40 35.00 45.47 AIH_Ext12_RNA D01 False dev_rna_exp0016_lib_s04 200.00 85.65 dev_rna_exp0016 D01 False 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_2 BND chr4 chr4 FGFR3 TACC3 1806934 1739702 chr4:1806934-chr4:1739702 +,+ STAR-Fusion 1 0 41 0.1775 41 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 "[""ChimerKB"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""Klijn_CellLines"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr4:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[48122]""]" ONLY_REF_SPLICE YES_LDAS 1.7819 False False False GT AG 41 True TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA;Klijn_CellLines 1 ENST00000340107.8 1-2280 ENST00000651472.1 1942-2517 0.1775 PASS atgggcgcccctgcctgcgccctcgcgctctgcgtggccgtggccatcgtggccggcgcctcctcggagtccttggggacggagcagcgcgtcgtggggcgagcggcagaagtcccgggcccagagcccggccagcaggagcagttggtcttcggcagcggggatgctgtggagctgagctgtcccccgcccgggggtggtcccatggggcccactgtctgggtcaaggatggcacagggctggtgccctcggagcgtgtcctggtggggccccagcggctgcaggtgctgaatgcctcccacgaggactccggggcctacagctgccggcagcggctcacgcagcgcgtactgtgccacttcagtgtgcgggtgacagacgctccatcctcgggagatgacgaagacggggaggacgaggctgaggacacaggtgtggacacaggggccccttactggacacggcccgagcggatggacaagaagctgctggccgtgccggccgccaacaccgtccgcttccgctgcccagccgctggcaaccccactccctccatctcctggctgaagaacggcagggagttccgcggcgagcaccgcattggaggcatcaagctgcggcatcagcagtggagcctggtcatggaaagcgtggtgccctcggaccgcggcaactacacctgcgtcgtggagaacaagtttggcagcatccggcagacgtacacgctggacgtgctggagcgctccccgcaccggcccatcctgcaggcggggctgccggccaaccagacggcggtgctgggcagcgacgtggagttccactgcaaggtgtacagtgacgcacagccccacatccagtggctcaagcacgtggaggtgaatggcagcaaggtgggcccggacggcacaccctacgttaccgtgctcaagtcctggatcagtgagagtgtggaggccgacgtgcgcctccgcctggccaatgtgtcggagcgggacgggggcgagtacctctgtcgagccaccaatttcataggcgtggccgagaaggccttttggctgagcgttcacgggccccgagcagccgaggaggagctggtggaggctgacgaggcgggcagtgtgtatgcaggcatcctcagctacggggtgggcttcttcctgttcatcctggtggtggcggctgtgacgctctgccgcctgcgcagcccccccaagaaaggcctgggctcccccaccgtgcacaagatctcccgcttcccgctcaagcgacaggtgtccctggagtccaacgcgtccatgagctccaacacaccactggtgcgcatcgcaaggctgtcctcaggggagggccccacgctggccaatgtctccgagctcgagctgcctgccgaccccaaatgggagctgtctcgggcccggctgaccctgggcaagccccttggggagggctgcttcggccaggtggtcatggcggaggccatcggcattgacaaggaccgggccgccaagcctgtcaccgtagccgtgaagatgctgaaagacgatgccactgacaaggacctgtcggacctggtgtctgagatggagatgatgaagatgatcgggaaacacaaaaacatcatcaacctgctgggcgcctgcacgcagggcgggcccctgtacgtgctggtggagtacgcggccaagggtaacctgcgggagtttctgcgggcgcggcggcccccgggcctggactactccttcgacacctgcaagccgcccgaggagcagctcaccttcaaggacctggtgtcctgtgcctaccaggtggcccggggcatggagtacttggcctcccagaagtgcatccacagggacctggctgcccgcaatgtgctggtgaccgaggacaacgtgatgaagatcgcagacttcgggctggcccgggacgtgcacaacctcgactactacaagaagacgaccaacggccggctgcccgtgaagtggatggcgcctgaggccttgtttgaccgagtctacactcaccagagtgacgtctggtcctttggggtcctgctctgggagatcttcacgctggggggctccccgtaccccggcatccctgtggaggagctcttcaagctgctgaaggagggccaccgcatggacaagcccgccaactgcacacacgacctgtacatgatcatgcgggagtgctggcatgccgcgccctcccagaggcccaccttcaagcagctggtggaggacctggaccgtgtccttaccgtgacgtccaccgacGTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGGGAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGGAGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAAAGACCAACTTACCACAGATCTGAACTCCATGGAGAAGTCCTTCTCCGACCTCTTCAAGCGTTTTGAGAAACAGAAAGAGGTGATCGAGGGCTACCGCAAGAACGAAGAGTCACTGAAGAAGTGCGTGGAGGATTACCTGGCAAGGATCACCCAGGAGGGCCAGAGGTACCAAGCCCTGAAGGCCCACGCGGAGGAGAAGCTGCAGCTGGCAAACGAGGAGATCGCCCAGGTCCGGAGCAAGGCCCAGGCGGAAGCGTTGGCCCTCCAGGCCAGCCTGAGGAAGGAGCAGATGCGCATCCAGTCGCTGGAGAAGACAGTGGAGCAGAAGACTAAAGAGAACGAGGAGCTGACCAGGATCTGCGACGACCTCATCTCCAAGATGGAGAAGATCTGA chr4|+|[0]1793935-1794043[0]|[1]1799254-1799523[0]|[1]1799747-1799812[0]|[1]1801367-1801536[2]|[0]1801620-1801743[0]|[1]1801835-1802025[2]|[0]1802914-1803064[0]|[1]1804330-1804520[2]|[0]1804824-1804969[1]|[2]1805355-1805476[0]|[1]1805559-1805669[0]|[1]1805750-1805940[2]|[0]1806051-1806173[2]|[0]1806257-1806327[1]|[2]1806546-1806683[1]|[2]1806829-1806934[2]<==>chr4|+|[0]1739702-1739778[1]|[2]1739959-1740002[0]|[1]1740826-1740986[2]|[0]1744518-1744624[1]|[2]1744712-1744832[2]|[0]1744948-1745013[2] MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGPDGTPYVTVLKSWISESVEADVRLRLANVSERDGGEYLCRATNFIGVAEKAFWLSVHGPRAAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDVKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKEKDQLTTDLNSMEKSFSDLFKRFEKQKEVIEGYRKNEESLKKCVEDYLARITQEGQRYQALKAHAEEKLQLANEEIAQVRSKAQAEALALQASLRKEQMRIQSLEKTVEQKTKENEELTRICDDLISKMEKI* FGFR3--TACC3 41 LH00995:25:23T55JLT4:1:1172:43553:20449,LH00995:25:23T55JLT4:1:1181:14535:26040,LH00995:25:23T55JLT4:1:1290:34946:20869,LH00995:25:23T55JLT4:1:1357:50098:3284,LH00995:25:23T55JLT4:1:1392:44921:28926,LH00995:25:23T55JLT4:1:1409:49071:13359,LH00995:25:23T55JLT4:1:1465:34582:4881,LH00995:25:23T55JLT4:1:2129:44953:11411,LH00995:25:23T55JLT4:1:2141:16953:20757,LH00995:25:23T55JLT4:1:2147:21767:2780,LH00995:25:23T55JLT4:1:2192:27624:12056,LH00995:25:23T55JLT4:1:2218:50948:12406,LH00995:25:23T55JLT4:1:2221:13693:24807,LH00995:25:23T55JLT4:1:2235:4406:2443,LH00995:25:23T55JLT4:1:2336:33595:22509,LH00995:25:23T55JLT4:1:2360:32130:23448,LH00995:25:23T55JLT4:1:2378:5490:13933,LH00995:25:23T55JLT4:1:2420:22058:2892,LH00995:25:23T55JLT4:1:2488:9486:11719,LH00995:25:23T55JLT4:2:1135:8839:13765,LH00995:25:23T55JLT4:2:1150:37276:15489,LH00995:25:23T55JLT4:2:1281:48949:28842,LH00995:25:23T55JLT4:2:1396:42761:24260,LH00995:25:23T55JLT4:2:1421:44597:24218,LH00995:25:23T55JLT4:2:2109:25917:23223,LH00995:25:23T55JLT4:2:2110:29113:15503,LH00995:25:23T55JLT4:2:2364:37267:25087,LH00995:25:23T55JLT4:2:2460:27381:27749,LH00995:25:23T55JLT4:3:1126:40495:15657,LH00995:25:23T55JLT4:3:1268:5692:7249,LH00995:25:23T55JLT4:3:1341:12755:4909,LH00995:25:23T55JLT4:3:1438:48569:15489,LH00995:25:23T55JLT4:3:1477:49419:13597,LH00995:25:23T55JLT4:3:2363:37292:12658,LH00995:25:23T55JLT4:3:2387:16015:21906,LH00995:25:23T55JLT4:4:1411:8111:24695,LH00995:25:23T55JLT4:4:2175:6250:12868,LH00995:25:23T55JLT4:5:1352:6809:28240,LH00995:25:23T55JLT4:5:2381:37178:23700,LH00995:25:23T55JLT4:6:1195:11671:13177,LH00995:25:23T55JLT4:6:1246:40245:24779 YES_LDAS GT 1.8892 chr4:1806934:+ FGFR3^ENSG00000068078.20 I-set|48-110|6.2e-06^ig|49-110|5.6e-05^Ig_3|51-110|1.4e-06^Ig_2|52-115|3.4e-06^V-set|53-80|4.4^C2-set_2|54-85|2.3^Ig_4|56-116|0.006^V-set|94-110|0.043^Ig_6|94-119|0.0043^V-set_CD47|97-111|4.6^ig|161-236|3.6e-11^V-set|164-192|0.27^I-set|166-245|2.5e-18^Ig_3|166-232|1.1e-15^Ig_2|166-240|6.1e-13^C2-set_2|170-195|3.4e-05^Ig_4|185-233|0.024^V-set|206-245|0.00013^V-set_CD47|208-245|0.00099^Ig_6|213-245|0.019^Ig_2|253-342|1.6e-06^I-set|260-355|4.5e-14^Ig_3|260-342|1.8e-13^V-set|260-356|1.1e-07^ig|264-348|2.3e-07^C2-set_2|268-291|0.35^V-set_CD47|274-343|0.026^Ig_4|321-340|1.3^Ig_6|323-341|0.33^FGFR3_TM|371-401|2.3e-17^PK_Tyr_Ser-Thr|474-750|6.3e-107^Pkinase|477-748|4.2e-47^Pkinase_fungal|592-687|1.8e-05 . INFRAME AG 1.7819 chr4:1739702:+ TACC3^ENSG00000013810.20 0 . ONLY_REF_SPLICE "[""ChimerKB"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""Klijn_CellLines"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr4:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[48122]""]" False chr4:1806934-chr4:1739702 41.0 0.0 41 1173_PCB STAR-Fusion
fp_audit 1173_PCB fusion FGFR3--TACC3 FGFR3--TACC3 FGFR3--TACC3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_PCB altera_exact 1173 clinical patient ovary Ovarian 76 unknown False 1173_PCB_T1_RNA_SLD_01 tRNA altera_inhouse ssf 34.40 35.00 45.47 AIH_Ext12_RNA D01 False dev_rna_exp0016_lib_s04 200.00 85.65 dev_rna_exp0016 D01 False 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 BND chr4 chr4 FGFR3 TACC3 1806934 1739702 chr4:1806934-chr4:1739702 +,+ STAR-Fusion 1 0 29 0.2759 29 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 "[""ChimerKB"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""Klijn_CellLines"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr4:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[48122]""]" ONLY_REF_SPLICE YES_LDAS 1.7819 False False False GT AG 29 True TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA;Klijn_CellLines 1 ENST00000340107.8 1-2280 ENST00000651472.1 1942-2517 0.2759 PASS atgggcgcccctgcctgcgccctcgcgctctgcgtggccgtggccatcgtggccggcgcctcctcggagtccttggggacggagcagcgcgtcgtggggcgagcggcagaagtcccgggcccagagcccggccagcaggagcagttggtcttcggcagcggggatgctgtggagctgagctgtcccccgcccgggggtggtcccatggggcccactgtctgggtcaaggatggcacagggctggtgccctcggagcgtgtcctggtggggccccagcggctgcaggtgctgaatgcctcccacgaggactccggggcctacagctgccggcagcggctcacgcagcgcgtactgtgccacttcagtgtgcgggtgacagacgctccatcctcgggagatgacgaagacggggaggacgaggctgaggacacaggtgtggacacaggggccccttactggacacggcccgagcggatggacaagaagctgctggccgtgccggccgccaacaccgtccgcttccgctgcccagccgctggcaaccccactccctccatctcctggctgaagaacggcagggagttccgcggcgagcaccgcattggaggcatcaagctgcggcatcagcagtggagcctggtcatggaaagcgtggtgccctcggaccgcggcaactacacctgcgtcgtggagaacaagtttggcagcatccggcagacgtacacgctggacgtgctggagcgctccccgcaccggcccatcctgcaggcggggctgccggccaaccagacggcggtgctgggcagcgacgtggagttccactgcaaggtgtacagtgacgcacagccccacatccagtggctcaagcacgtggaggtgaatggcagcaaggtgggcccggacggcacaccctacgttaccgtgctcaagtcctggatcagtgagagtgtggaggccgacgtgcgcctccgcctggccaatgtgtcggagcgggacgggggcgagtacctctgtcgagccaccaatttcataggcgtggccgagaaggccttttggctgagcgttcacgggccccgagcagccgaggaggagctggtggaggctgacgaggcgggcagtgtgtatgcaggcatcctcagctacggggtgggcttcttcctgttcatcctggtggtggcggctgtgacgctctgccgcctgcgcagcccccccaagaaaggcctgggctcccccaccgtgcacaagatctcccgcttcccgctcaagcgacaggtgtccctggagtccaacgcgtccatgagctccaacacaccactggtgcgcatcgcaaggctgtcctcaggggagggccccacgctggccaatgtctccgagctcgagctgcctgccgaccccaaatgggagctgtctcgggcccggctgaccctgggcaagccccttggggagggctgcttcggccaggtggtcatggcggaggccatcggcattgacaaggaccgggccgccaagcctgtcaccgtagccgtgaagatgctgaaagacgatgccactgacaaggacctgtcggacctggtgtctgagatggagatgatgaagatgatcgggaaacacaaaaacatcatcaacctgctgggcgcctgcacgcagggcgggcccctgtacgtgctggtggagtacgcggccaagggtaacctgcgggagtttctgcgggcgcggcggcccccgggcctggactactccttcgacacctgcaagccgcccgaggagcagctcaccttcaaggacctggtgtcctgtgcctaccaggtggcccggggcatggagtacttggcctcccagaagtgcatccacagggacctggctgcccgcaatgtgctggtgaccgaggacaacgtgatgaagatcgcagacttcgggctggcccgggacgtgcacaacctcgactactacaagaagacgaccaacggccggctgcccgtgaagtggatggcgcctgaggccttgtttgaccgagtctacactcaccagagtgacgtctggtcctttggggtcctgctctgggagatcttcacgctggggggctccccgtaccccggcatccctgtggaggagctcttcaagctgctgaaggagggccaccgcatggacaagcccgccaactgcacacacgacctgtacatgatcatgcgggagtgctggcatgccgcgccctcccagaggcccaccttcaagcagctggtggaggacctggaccgtgtccttaccgtgacgtccaccgacGTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGGGAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGGAGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAAAGACCAACTTACCACAGATCTGAACTCCATGGAGAAGTCCTTCTCCGACCTCTTCAAGCGTTTTGAGAAACAGAAAGAGGTGATCGAGGGCTACCGCAAGAACGAAGAGTCACTGAAGAAGTGCGTGGAGGATTACCTGGCAAGGATCACCCAGGAGGGCCAGAGGTACCAAGCCCTGAAGGCCCACGCGGAGGAGAAGCTGCAGCTGGCAAACGAGGAGATCGCCCAGGTCCGGAGCAAGGCCCAGGCGGAAGCGTTGGCCCTCCAGGCCAGCCTGAGGAAGGAGCAGATGCGCATCCAGTCGCTGGAGAAGACAGTGGAGCAGAAGACTAAAGAGAACGAGGAGCTGACCAGGATCTGCGACGACCTCATCTCCAAGATGGAGAAGATCTGA chr4|+|[0]1793935-1794043[0]|[1]1799254-1799523[0]|[1]1799747-1799812[0]|[1]1801367-1801536[2]|[0]1801620-1801743[0]|[1]1801835-1802025[2]|[0]1802914-1803064[0]|[1]1804330-1804520[2]|[0]1804824-1804969[1]|[2]1805355-1805476[0]|[1]1805559-1805669[0]|[1]1805750-1805940[2]|[0]1806051-1806173[2]|[0]1806257-1806327[1]|[2]1806546-1806683[1]|[2]1806829-1806934[2]<==>chr4|+|[0]1739702-1739778[1]|[2]1739959-1740002[0]|[1]1740826-1740986[2]|[0]1744518-1744624[1]|[2]1744712-1744832[2]|[0]1744948-1745013[2] MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGPDGTPYVTVLKSWISESVEADVRLRLANVSERDGGEYLCRATNFIGVAEKAFWLSVHGPRAAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDVKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKEKDQLTTDLNSMEKSFSDLFKRFEKQKEVIEGYRKNEESLKKCVEDYLARITQEGQRYQALKAHAEEKLQLANEEIAQVRSKAQAEALALQASLRKEQMRIQSLEKTVEQKTKENEELTRICDDLISKMEKI* FGFR3--TACC3 29 LH00995:25:23T55JLT4:1:1274:4325:19762,LH00995:25:23T55JLT4:1:1425:14009:16694,LH00995:25:23T55JLT4:1:2155:38578:9786,LH00995:25:23T55JLT4:1:2240:21427:11551,LH00995:25:23T55JLT4:1:2260:19656:21150,LH00995:25:23T55JLT4:1:2326:43003:28969,LH00995:25:23T55JLT4:1:2397:12876:7418,LH00995:25:23T55JLT4:1:2437:11711:1112,LH00995:25:23T55JLT4:2:1386:11032:24933,LH00995:25:23T55JLT4:2:1425:5538:15279,LH00995:25:23T55JLT4:2:2251:43934:10010,LH00995:25:23T55JLT4:2:2482:35512:2429,LH00995:25:23T55JLT4:3:1112:27519:23588,LH00995:25:23T55JLT4:3:1132:27462:10907,LH00995:25:23T55JLT4:3:1202:3953:13345,LH00995:25:23T55JLT4:3:1285:50940:19762,LH00995:25:23T55JLT4:3:1313:9292:23518,LH00995:25:23T55JLT4:3:2158:23862:16722,LH00995:25:23T55JLT4:4:1149:34468:10907,LH00995:25:23T55JLT4:4:1313:17552:29025,LH00995:25:23T55JLT4:4:1479:3848:18179,LH00995:25:23T55JLT4:4:2136:30569:15895,LH00995:25:23T55JLT4:4:2145:8742:10823,LH00995:25:23T55JLT4:4:2202:38756:27553,LH00995:25:23T55JLT4:6:2429:3451:6899,LH00995:25:23T55JLT4:7:2221:9721:4587,LH00995:25:23T55JLT4:7:2266:6954:24905,LH00995:25:23T55JLT4:8:1194:30917:29109,LH00995:25:23T55JLT4:8:1470:26030:14059 YES_LDAS GT 1.8892 chr4:1806934:+ FGFR3^ENSG00000068078.20 I-set|48-110|6.2e-06^ig|49-110|5.6e-05^Ig_3|51-110|1.4e-06^Ig_2|52-115|3.4e-06^V-set|53-80|4.4^C2-set_2|54-85|2.3^Ig_4|56-116|0.006^V-set|94-110|0.043^Ig_6|94-119|0.0043^V-set_CD47|97-111|4.6^ig|161-236|3.6e-11^V-set|164-192|0.27^I-set|166-245|2.5e-18^Ig_3|166-232|1.1e-15^Ig_2|166-240|6.1e-13^C2-set_2|170-195|3.4e-05^Ig_4|185-233|0.024^V-set|206-245|0.00013^V-set_CD47|208-245|0.00099^Ig_6|213-245|0.019^Ig_2|253-342|1.6e-06^I-set|260-355|4.5e-14^Ig_3|260-342|1.8e-13^V-set|260-356|1.1e-07^ig|264-348|2.3e-07^C2-set_2|268-291|0.35^V-set_CD47|274-343|0.026^Ig_4|321-340|1.3^Ig_6|323-341|0.33^FGFR3_TM|371-401|2.3e-17^PK_Tyr_Ser-Thr|474-750|6.3e-107^Pkinase|477-748|4.2e-47^Pkinase_fungal|592-687|1.8e-05 . INFRAME AG 1.7819 chr4:1739702:+ TACC3^ENSG00000013810.20 0 . ONLY_REF_SPLICE "[""ChimerKB"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""Klijn_CellLines"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr4:0.05Mb]"",""LOCAL_REARRANGEMENT:+:[48122]""]" False chr4:1806934-chr4:1739702 29.0 0.0 29 1173_PCB STAR-Fusion
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41508081 38584945 chr21:41508081-chr21:38584945 -,- Arriba 1 0 6 6 PASS TMPRSS2--ERG ERG--TMPRSS2 confidence:medium;duplicates(6) medium deletion 5'UTR/splice-site 5'UTR/splice-site 10 652 6.0 0.0 0.0 0.0 0 6 duplicates(6) FAIL False chr21:41508081 chr21:38584945 chr21:41508081-chr21:38584945 . . medium 10 652 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(6.0<8.0) duplicates(6) GGAGGCGGAGGCGGAGGGCGAGGGGCGGGGAGCGCCGCCTGGAGCGCGGCAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAAAAGCAAGACAAATGACTCACAGAGAAAAAAGATG TMPRSS2 ERG ENSG00000184012 ENSG00000157554 . LH00995:25:23T55JLT4:1:2358:45932:29137,LH00995:25:23T55JLT4:2:2327:21767:13793,LH00995:25:23T55JLT4:3:1471:16800:8973,LH00995:25:23T55JLT4:4:1144:17188:2079,LH00995:25:23T55JLT4:4:2115:4471:1378,LH00995:25:23T55JLT4:4:2361:15991:13737,LH00995:25:23T55JLT4:5:2279:9017:17044,LH00995:25:23T55JLT4:6:2214:22236:4265,LH00995:25:23T55JLT4:7:1182:45673:20169,LH00995:25:23T55JLT4:7:2374:13046:15615,LH00995:25:23T55JLT4:8:2137:24760:26628,LH00995:25:23T55JLT4:8:2458:5538:25255 . |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) 5'UTR/splice-site 5'UTR/splice-site 0 6 -/- -/- . 6 ENST00000332149 ENST00000442448 deletion 0.0 0.00911854103343465 0.004559270516717325 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41508081 38445621 chr21:41508081-chr21:38445621 -,- Arriba 1 0 3 3 PASS TMPRSS2--ERG ERG--TMPRSS2 confidence:medium;duplicates(2) medium deletion 5'UTR/splice-site CDS/splice-site 10 1576 2.0 0.0 0.0 0.0 0 3 duplicates(2) FAIL False chr21:41508081 chr21:38445621 chr21:41508081-chr21:38445621 . . medium 10 1576 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(2) GCGGGGAGCGCCGCCTGGAGCGCGGCAG|GAAGCCTTATCAGTTGTGAGTGAGGACCAGTCGTTGTTTGAGTGTGCCTACGGAACGCCACACCTGGC TMPRSS2 ERG ENSG00000184012 ENSG00000157554 . LH00995:25:23T55JLT4:1:2435:11129:24765,LH00995:25:23T55JLT4:3:1151:18636:3550,LH00995:25:23T55JLT4:5:2433:35852:9856,LH00995:25:23T55JLT4:6:1435:34428:22355,LH00995:25:23T55JLT4:8:1260:49241:18193 . |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) 5'UTR/splice-site CDS/splice-site 0 3 -/- -/- . 3 ENST00000332149 ENST00000442448 deletion 0.0 0.0018999366687777073 0.0009499683343888537 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41506445 38584945 chr21:41506445-chr21:38584945 -,- Arriba 1 0 1 1 PASS TMPRSS2--ERG ERG--TMPRSS2 confidence:low;duplicates(3) low deletion 5'UTR/splice-site 5'UTR/splice-site 4 652 3.0 0.0 0.0 0.0 1 0 duplicates(3) FAIL False chr21:41506445 chr21:38584945 chr21:41506445-chr21:38584945 . . low 4 652 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(3) CCCACCTTTACTGAGTGCTTTTGAAGAAGTAGGACCTGCCCTGCTCCGCTACAGAACTACTGGACAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAAAAGCAA TMPRSS2 ERG ENSG00000184012 ENSG00000157554 . LH00995:25:23T55JLT4:2:1466:51643:1308,LH00995:25:23T55JLT4:6:1170:39290:3004,LH00995:25:23T55JLT4:7:2217:46951:23252,LH00995:25:23T55JLT4:7:2294:12633:20169 . |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) 5'UTR/splice-site 5'UTR/splice-site 1 0 -/- -/- . 1 ENST00000455813 ENST00000442448 deletion 0.2 0.0 0.1 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41507950 38584945 chr21:41507950-chr21:38584945 -,- Arriba 1 0 1 1 PASS out-of-frame TMPRSS2--ERG ERG--TMPRSS2 confidence:low;duplicates(1) low deletion CDS/splice-site 5'UTR/splice-site 9 652 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr21:41507950 chr21:38584945 chr21:41507950-chr21:38584945 . . low 9 652 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) CGCCGATGCCCCCTGCCCCGCCCGGAGGTGAAAGtGGGTGTGAGGAGCGCGGCGCGGCAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAAAAGCAAGACAAATG TMPRSS2 ERG ENSG00000184012 ENSG00000157554 MPPAPPGGESGCEERGAA|gysrifgdprkavltksktn LH00995:25:23T55JLT4:1:2367:3103:29697,LH00995:25:23T55JLT4:6:1168:26783:11243 out-of-frame |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) CDS/splice-site 5'UTR/splice-site 1 0 -/- -/- . 1 ENST00000398585 ENST00000442448 deletion 0.1 0.0 0.05 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 TMPRSS2 ERG 41508081 38445621 chr21:41508081-chr21:38445621 -,- Arriba 1 0 3 3 PASS TMPRSS2--ERG ERG--TMPRSS2 confidence:medium;duplicates(1) medium deletion 5'UTR/splice-site CDS/splice-site 33 1717 1.0 0.0 0.0 0.0 1 2 duplicates(1) FAIL False chr21:41508081 chr21:38445621 chr21:41508081-chr21:38445621 . . medium 33 1717 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(1) GCAGGAGGCGGAGGCGGAGGCGGAGGGCGAGGGGCGGGGAGCGCCGCCTGGAGCGCGGCAG|GAAGCCTTATCAGTTGTGAGTGAGGACCAGTCGTTGTTTGAGTGTGCCTACGGAACGCC TMPRSS2 ERG ENSG00000184012 ENSG00000157554 . LH00995:25:23T55JLT4:6:1184:19122:29501,LH00995:25:23T55JLT4:6:1216:29364:23448,LH00995:25:23T55JLT4:6:1275:49168:24429,LH00995:25:23T55JLT4:8:2315:20707:5736 . |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) 5'UTR/splice-site CDS/splice-site 1 2 -/- -/- . 3 ENST00000332149 ENST00000442448 deletion 0.029411764705882353 0.0011634671320535194 0.015287615918967936 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 TMPRSS2 ERG 41508081 38584945 chr21:41508081-chr21:38584945 -,- Arriba 1 0 2 2 PASS TMPRSS2--ERG ERG--TMPRSS2 confidence:low;duplicates(2) low deletion 5'UTR/splice-site 5'UTR/splice-site 33 868 2.0 0.0 0.0 0.0 0 2 duplicates(2) FAIL False chr21:41508081 chr21:38584945 chr21:41508081-chr21:38584945 . . low 33 868 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(2) GGCGGAGGCGGAGGGCGAGGGGCGGGGAGCGCCGCCTGGAGCGCGGCAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAgAAGCAAGAC TMPRSS2 ERG ENSG00000184012 ENSG00000157554 . LH00995:25:23T55JLT4:5:1357:13928:28016,LH00995:25:23T55JLT4:8:1304:30075:22299,LH00995:25:23T55JLT4:8:2318:8556:3326,LH00995:25:23T55JLT4:8:2451:10684:8805 . |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) 5'UTR/splice-site 5'UTR/splice-site 0 2 -/- -/- . 2 ENST00000332149 ENST00000442448 deletion 0.0 0.0022988505747126436 0.0011494252873563218 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 TMPRSS2 ERG 41507950 38584945 chr21:41507950-chr21:38584945 -,- Arriba 1 0 1 1 PASS out-of-frame TMPRSS2--ERG ERG--TMPRSS2 confidence:low;duplicates(1) low deletion CDS/splice-site 5'UTR/splice-site 12 868 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr21:41507950 chr21:38584945 chr21:41507950-chr21:38584945 . . low 12 868 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) CCTGGGCGCCTGGGACCCGCCGATGCCCCCTGCCCCGCCCGGAGGTGAAAGCGGGTGTGAGGAGCGCGGCGCGGCAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAAAAGCAAG TMPRSS2 ERG ENSG00000184012 ENSG00000157554 MPPAPPGGESGCEERGAA|gysrifgdprkavltks LH00995:25:23T55JLT4:2:1465:43003:19356,LH00995:25:23T55JLT4:3:1303:49127:20435 out-of-frame |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) CDS/splice-site 5'UTR/splice-site 1 0 -/- -/- . 1 ENST00000398585 ENST00000442448 deletion 0.07692307692307693 0.0 0.038461538461538464 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41508081 38584945 chr21:41508081-chr21:38584945 -,- STAR-Fusion 1 0 6 0.0243 6 FAIL TMPRSS2--ERG ERG--TMPRSS2 "[""ChimerKB"",""Larsson_TCGA"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""chimerdb_pubmed"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr21:2.80Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.6895 False False False GT AG 6 Read count too low: 6 < 8 TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA 0 . . . . 0.0243 FAIL . . . TMPRSS2--ERG 6 LH00995:25:23T55JLT4:1:2358:45932:29137,LH00995:25:23T55JLT4:2:2327:21767:13793,LH00995:25:23T55JLT4:4:1144:17188:2079,LH00995:25:23T55JLT4:4:2115:4471:1378,LH00995:25:23T55JLT4:7:2374:13046:15615,LH00995:25:23T55JLT4:8:2137:24760:26628 YES_LDAS GT 1.6895 chr21:41508081:- TMPRSS2^ENSG00000184012.14 . . . AG 1.9219 chr21:38584945:- ERG^ENSG00000157554.19 0 . ONLY_REF_SPLICE "[""ChimerKB"",""Larsson_TCGA"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""chimerdb_pubmed"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr21:2.80Mb]""]" False chr21:41508081-chr21:38584945 6.0 0.0 Read count too low: 6 < 8 6 1173_Q7O STAR-Fusion
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41508081 38445621 chr21:41508081-chr21:38445621 -,- STAR-Fusion 1 0 3 0.0122 3 FAIL TMPRSS2--ERG ERG--TMPRSS2 "[""ChimerKB"",""Larsson_TCGA"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""chimerdb_pubmed"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr21:2.80Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.6895 False False False GT AG 3 Read count too low: 3 < 8 TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA 0 . . . . 0.0122 FAIL . . . TMPRSS2--ERG 3 LH00995:25:23T55JLT4:1:2435:11129:24765,LH00995:25:23T55JLT4:3:1151:18636:3550,LH00995:25:23T55JLT4:5:2433:35852:9856 YES_LDAS GT 1.6895 chr21:41508081:- TMPRSS2^ENSG00000184012.14 . . . AG 1.9656 chr21:38445621:- ERG^ENSG00000157554.19 0 . ONLY_REF_SPLICE "[""ChimerKB"",""Larsson_TCGA"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""chimerdb_pubmed"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr21:2.80Mb]""]" False chr21:41508081-chr21:38445621 3.0 0.0 Read count too low: 3 < 8 3 1173_Q7O STAR-Fusion
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 TMPRSS2 ERG 41508081 38445621 chr21:41508081-chr21:38445621 -,- Arriba 1 0 3 3 PASS TMPRSS2--ERG ERG--TMPRSS2 confidence:medium;duplicates(1) medium deletion 5'UTR/splice-site CDS/splice-site 33 1717 1.0 0.0 0.0 0.0 1 2 duplicates(1) FAIL False chr21:41508081 chr21:38445621 chr21:41508081-chr21:38445621 . . medium 33 1717 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(1) GCAGGAGGCGGAGGCGGAGGCGGAGGGCGAGGGGCGGGGAGCGCCGCCTGGAGCGCGGCAG|GAAGCCTTATCAGTTGTGAGTGAGGACCAGTCGTTGTTTGAGTGTGCCTACGGAACGCC TMPRSS2 ERG ENSG00000184012 ENSG00000157554 . LH00995:25:23T55JLT4:6:1184:19122:29501,LH00995:25:23T55JLT4:6:1216:29364:23448,LH00995:25:23T55JLT4:6:1275:49168:24429,LH00995:25:23T55JLT4:8:2315:20707:5736 . |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) 5'UTR/splice-site CDS/splice-site 1 2 -/- -/- . 3 ENST00000332149 ENST00000442448 deletion 0.029411764705882353 0.0011634671320535194 0.015287615918967936 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 TMPRSS2 ERG 41508081 38584945 chr21:41508081-chr21:38584945 -,- Arriba 1 0 2 2 PASS TMPRSS2--ERG ERG--TMPRSS2 confidence:low;duplicates(2) low deletion 5'UTR/splice-site 5'UTR/splice-site 33 868 2.0 0.0 0.0 0.0 0 2 duplicates(2) FAIL False chr21:41508081 chr21:38584945 chr21:41508081-chr21:38584945 . . low 33 868 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(2) GGCGGAGGCGGAGGGCGAGGGGCGGGGAGCGCCGCCTGGAGCGCGGCAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAgAAGCAAGAC TMPRSS2 ERG ENSG00000184012 ENSG00000157554 . LH00995:25:23T55JLT4:5:1357:13928:28016,LH00995:25:23T55JLT4:8:1304:30075:22299,LH00995:25:23T55JLT4:8:2318:8556:3326,LH00995:25:23T55JLT4:8:2451:10684:8805 . |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) 5'UTR/splice-site 5'UTR/splice-site 0 2 -/- -/- . 2 ENST00000332149 ENST00000442448 deletion 0.0 0.0022988505747126436 0.0011494252873563218 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 TMPRSS2 ERG 41507950 38584945 chr21:41507950-chr21:38584945 -,- Arriba 1 0 1 1 PASS out-of-frame TMPRSS2--ERG ERG--TMPRSS2 confidence:low;duplicates(1) low deletion CDS/splice-site 5'UTR/splice-site 12 868 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr21:41507950 chr21:38584945 chr21:41507950-chr21:38584945 . . low 12 868 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) CCTGGGCGCCTGGGACCCGCCGATGCCCCCTGCCCCGCCCGGAGGTGAAAGCGGGTGTGAGGAGCGCGGCGCGGCAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAAAAGCAAG TMPRSS2 ERG ENSG00000184012 ENSG00000157554 MPPAPPGGESGCEERGAA|gysrifgdprkavltks LH00995:25:23T55JLT4:2:1465:43003:19356,LH00995:25:23T55JLT4:3:1303:49127:20435 out-of-frame |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) CDS/splice-site 5'UTR/splice-site 1 0 -/- -/- . 1 ENST00000398585 ENST00000442448 deletion 0.07692307692307693 0.0 0.038461538461538464 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41508081 38584945 chr21:41508081-chr21:38584945 -,- Arriba 1 0 6 6 PASS TMPRSS2--ERG ERG--TMPRSS2 confidence:medium;duplicates(6) medium deletion 5'UTR/splice-site 5'UTR/splice-site 10 652 6.0 0.0 0.0 0.0 0 6 duplicates(6) FAIL False chr21:41508081 chr21:38584945 chr21:41508081-chr21:38584945 . . medium 10 652 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(6.0<8.0) duplicates(6) GGAGGCGGAGGCGGAGGGCGAGGGGCGGGGAGCGCCGCCTGGAGCGCGGCAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAAAAGCAAGACAAATGACTCACAGAGAAAAAAGATG TMPRSS2 ERG ENSG00000184012 ENSG00000157554 . LH00995:25:23T55JLT4:1:2358:45932:29137,LH00995:25:23T55JLT4:2:2327:21767:13793,LH00995:25:23T55JLT4:3:1471:16800:8973,LH00995:25:23T55JLT4:4:1144:17188:2079,LH00995:25:23T55JLT4:4:2115:4471:1378,LH00995:25:23T55JLT4:4:2361:15991:13737,LH00995:25:23T55JLT4:5:2279:9017:17044,LH00995:25:23T55JLT4:6:2214:22236:4265,LH00995:25:23T55JLT4:7:1182:45673:20169,LH00995:25:23T55JLT4:7:2374:13046:15615,LH00995:25:23T55JLT4:8:2137:24760:26628,LH00995:25:23T55JLT4:8:2458:5538:25255 . |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) 5'UTR/splice-site 5'UTR/splice-site 0 6 -/- -/- . 6 ENST00000332149 ENST00000442448 deletion 0.0 0.00911854103343465 0.004559270516717325 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41508081 38445621 chr21:41508081-chr21:38445621 -,- Arriba 1 0 3 3 PASS TMPRSS2--ERG ERG--TMPRSS2 confidence:medium;duplicates(2) medium deletion 5'UTR/splice-site CDS/splice-site 10 1576 2.0 0.0 0.0 0.0 0 3 duplicates(2) FAIL False chr21:41508081 chr21:38445621 chr21:41508081-chr21:38445621 . . medium 10 1576 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(2) GCGGGGAGCGCCGCCTGGAGCGCGGCAG|GAAGCCTTATCAGTTGTGAGTGAGGACCAGTCGTTGTTTGAGTGTGCCTACGGAACGCCACACCTGGC TMPRSS2 ERG ENSG00000184012 ENSG00000157554 . LH00995:25:23T55JLT4:1:2435:11129:24765,LH00995:25:23T55JLT4:3:1151:18636:3550,LH00995:25:23T55JLT4:5:2433:35852:9856,LH00995:25:23T55JLT4:6:1435:34428:22355,LH00995:25:23T55JLT4:8:1260:49241:18193 . |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) 5'UTR/splice-site CDS/splice-site 0 3 -/- -/- . 3 ENST00000332149 ENST00000442448 deletion 0.0 0.0018999366687777073 0.0009499683343888537 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41506445 38584945 chr21:41506445-chr21:38584945 -,- Arriba 1 0 1 1 PASS TMPRSS2--ERG ERG--TMPRSS2 confidence:low;duplicates(3) low deletion 5'UTR/splice-site 5'UTR/splice-site 4 652 3.0 0.0 0.0 0.0 1 0 duplicates(3) FAIL False chr21:41506445 chr21:38584945 chr21:41506445-chr21:38584945 . . low 4 652 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(3) CCCACCTTTACTGAGTGCTTTTGAAGAAGTAGGACCTGCCCTGCTCCGCTACAGAACTACTGGACAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAAAAGCAA TMPRSS2 ERG ENSG00000184012 ENSG00000157554 . LH00995:25:23T55JLT4:2:1466:51643:1308,LH00995:25:23T55JLT4:6:1170:39290:3004,LH00995:25:23T55JLT4:7:2217:46951:23252,LH00995:25:23T55JLT4:7:2294:12633:20169 . |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) 5'UTR/splice-site 5'UTR/splice-site 1 0 -/- -/- . 1 ENST00000455813 ENST00000442448 deletion 0.2 0.0 0.1 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41507950 38584945 chr21:41507950-chr21:38584945 -,- Arriba 1 0 1 1 PASS out-of-frame TMPRSS2--ERG ERG--TMPRSS2 confidence:low;duplicates(1) low deletion CDS/splice-site 5'UTR/splice-site 9 652 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr21:41507950 chr21:38584945 chr21:41507950-chr21:38584945 . . low 9 652 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) CGCCGATGCCCCCTGCCCCGCCCGGAGGTGAAAGtGGGTGTGAGGAGCGCGGCGCGGCAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAAAAGCAAGACAAATG TMPRSS2 ERG ENSG00000184012 ENSG00000157554 MPPAPPGGESGCEERGAA|gysrifgdprkavltksktn LH00995:25:23T55JLT4:1:2367:3103:29697,LH00995:25:23T55JLT4:6:1168:26783:11243 out-of-frame |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) CDS/splice-site 5'UTR/splice-site 1 0 -/- -/- . 1 ENST00000398585 ENST00000442448 deletion 0.1 0.0 0.05 1173_Q7O Arriba
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41508081 38584945 chr21:41508081-chr21:38584945 -,- STAR-Fusion 1 0 6 0.0243 6 FAIL TMPRSS2--ERG ERG--TMPRSS2 "[""ChimerKB"",""Larsson_TCGA"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""chimerdb_pubmed"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr21:2.80Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.6895 False False False GT AG 6 Read count too low: 6 < 8 TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA 0 . . . . 0.0243 FAIL . . . TMPRSS2--ERG 6 LH00995:25:23T55JLT4:1:2358:45932:29137,LH00995:25:23T55JLT4:2:2327:21767:13793,LH00995:25:23T55JLT4:4:1144:17188:2079,LH00995:25:23T55JLT4:4:2115:4471:1378,LH00995:25:23T55JLT4:7:2374:13046:15615,LH00995:25:23T55JLT4:8:2137:24760:26628 YES_LDAS GT 1.6895 chr21:41508081:- TMPRSS2^ENSG00000184012.14 . . . AG 1.9219 chr21:38584945:- ERG^ENSG00000157554.19 0 . ONLY_REF_SPLICE "[""ChimerKB"",""Larsson_TCGA"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""chimerdb_pubmed"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr21:2.80Mb]""]" False chr21:41508081-chr21:38584945 6.0 0.0 Read count too low: 6 < 8 6 1173_Q7O STAR-Fusion
fp_audit 1173_Q7O fusion ERG--TMPRSS2 TMPRSS2--ERG ERG--TMPRSS2 FP FP Arriba dev_rna_exp0016 1173_Q7O altera_exact 1173 clinical patient sarcoma Sarcoma 54 unknown False 1173_Q7O_T1_RNA_SLD_01 tRNA altera_inhouse ssf 31.40 38.00 39.33 AIH_Ext13_RNA G02 False dev_rna_exp0016_lib_s90 100.00 88.32 dev_rna_exp0016 B12 False 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 TMPRSS2 ERG 41508081 38445621 chr21:41508081-chr21:38445621 -,- STAR-Fusion 1 0 3 0.0122 3 FAIL TMPRSS2--ERG ERG--TMPRSS2 "[""ChimerKB"",""Larsson_TCGA"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""chimerdb_pubmed"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr21:2.80Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.6895 False False False GT AG 3 Read count too low: 3 < 8 TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA 0 . . . . 0.0122 FAIL . . . TMPRSS2--ERG 3 LH00995:25:23T55JLT4:1:2435:11129:24765,LH00995:25:23T55JLT4:3:1151:18636:3550,LH00995:25:23T55JLT4:5:2433:35852:9856 YES_LDAS GT 1.6895 chr21:41508081:- TMPRSS2^ENSG00000184012.14 . . . AG 1.9656 chr21:38445621:- ERG^ENSG00000157554.19 0 . ONLY_REF_SPLICE "[""ChimerKB"",""Larsson_TCGA"",""ChimerSeq"",""TCGA_StarF2019"",""CCLE_StarF2019"",""YOSHIHARA_TCGA"",""chimerdb_pubmed"",""DEEPEST2019"",""GUO2018CR_TCGA"",""ChimerPub"",""TumorFusionsNAR2018"",""Cosmic"",""INTRACHROMOSOMAL[chr21:2.80Mb]""]" False chr21:41508081-chr21:38445621 3.0 0.0 Read count too low: 3 < 8 3 1173_Q7O STAR-Fusion
fp_audit 1173_QJL fusion AP001610--ERG ERG--AP001610 AP001610--ERG FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 ERG AP001610 38400574 41560452 chr21:38400574-chr21:41560452 -,- Arriba 1 0 8 8 PASS out-of-frame ERG--AP001610 AP001610--ERG confidence:medium;duplicates(14) medium duplication CDS/splice-site exon/splice-site 16563 1 14.0 0.0 0.0 0.0 8 0 False duplicates(14) FAIL False chr21:38400574 chr21:41560452 chr21:38400574-chr21:41560452 . . medium 16563 1 upstream downstream 0 confidence_below_min(medium<high) duplicates(14) TCTCTCACATCTCCACTACCTCAGAGAGA___CTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAG___GGGGTGCAGCTTTTATTTTCCCAAATACTTCAGTATATCCTGAAGCTACGCAAAGAATTACAACTAGGCCAG|GCATTCACATTGGCAACTCCTGTTCCAAGAATAATTATTTATGACAGATTTCAATTTTCGGGGCAGGGATGGTGTCTTACTCATCCTGGGC ERG AP001610.3 ENSG00000157554 ENSG00000232806 LSHLHYLRETPLPHLTSDDVDKALQNSPRLMHARNTGGAAFIFPNTSVYPEATQRITTRP|gihignscsknnyl* LH00995:25:23T55JLT4:1:2133:35350:19300,LH00995:25:23T55JLT4:2:1214:40900:18487,LH00995:25:23T55JLT4:2:1457:38691:17128,LH00995:25:23T55JLT4:3:1147:43715:21038,LH00995:25:23T55JLT4:3:1191:44913:3438,LH00995:25:23T55JLT4:3:1191:44929:3438,LH00995:25:23T55JLT4:3:1287:9066:15895,LH00995:25:23T55JLT4:3:2280:11679:7306,LH00995:25:23T55JLT4:4:2171:21484:3410,LH00995:25:23T55JLT4:4:2453:33902:28030,LH00995:25:23T55JLT4:5:1111:19291:14802,LH00995:25:23T55JLT4:5:2196:26087:11327,LH00995:25:23T55JLT4:5:2275:33870:24555,LH00995:25:23T55JLT4:6:1129:22932:15447,LH00995:25:23T55JLT4:6:1289:42664:14200,LH00995:25:23T55JLT4:6:1467:31426:1603,LH00995:25:23T55JLT4:6:1486:44694:6002,LH00995:25:23T55JLT4:6:2428:24663:17380,LH00995:25:23T55JLT4:7:2320:13362:7221,LH00995:25:23T55JLT4:7:2416:18733:16301,LH00995:25:23T55JLT4:8:1221:31257:7894,LH00995:25:23T55JLT4:8:1312:5838:9800 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)| CDS/splice-site exon/splice-site 8 0 -/- -/- . 8 ENST00000417133 ENST00000415820 duplication 0.000482771106149297 0.0 0.0002413855530746485 1173_QJL Arriba
fp_audit 1173_QJL fusion AP001610--ERG ERG--AP001610 AP001610--ERG FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 ERG AP001610 38402557 41560452 chr21:38402557-chr21:41560452 -,- Arriba 1 0 3 3 PASS out-of-frame ERG--AP001610 AP001610--ERG confidence:medium medium duplication CDS/splice-site exon/splice-site 41753 1 2 1 False FAIL False chr21:38402557 chr21:41560452 chr21:38402557-chr21:41560452 . . medium 41753 1 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) . CTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAG|GCATTCACATTGGCAACTCCTGTTCCAAGAATAATTATTTATGACAGATTTCAATTTTCGGGGCAGGGATGGTGTCTTACTCATCCTGGGCTTCAGGACATCTGTGTAAC ERG AP001610.3 ENSG00000157554 ENSG00000232806 PLPHLTSDDVDKALQNSPRLMHARNT|gihignscsknnyl* LH00995:25:23T55JLT4:5:2123:42437:12910,LH00995:25:23T55JLT4:8:1264:23312:23784,LH00995:25:23T55JLT4:4:2478:32745:1925 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)| CDS/splice-site exon/splice-site 2 1 -/- -/- . 3 ENST00000442448 ENST00000415820 duplication 4.7898455274817386e-05 0.5 0.25002394922763743 1173_QJL Arriba
fp_audit 1173_QJL fusion AP001610--ERG ERG--AP001610 AP001610--ERG FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 ERG AP001610 38400574 41560452 chr21:38400574-chr21:41560452 -,- Arriba 1 0 8 8 PASS out-of-frame ERG--AP001610 AP001610--ERG confidence:medium;duplicates(6) medium duplication CDS/splice-site exon/splice-site 15498 1 6.0 0.0 0.0 0.0 7 1 False duplicates(6) FAIL False chr21:38400574 chr21:41560452 chr21:38400574-chr21:41560452 . . medium 15498 1 upstream downstream 0 confidence_below_min(medium<high) duplicates(6) CCCAGCTACAACGCCGACATCCTTCTCTCACATCTCCACTACCTCAGAGAGA___CTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAG___GGGGTGCAGCTTTTATTTTCCCAAATACTTCAGTATATCCTGAAGCTACGCAAAGAATTACAACTAGGCCAG|GCATTCACATTGGCAACTCCTGTTCCAAGAATAATTATTTATGACAGATTTCAATTTTCGGGGCAGGGATGGTGTCTTACTCATCCTGGGCTTCAGGACATCTGTGTAACA ERG AP001610.3 ENSG00000157554 ENSG00000232806 PSYNADILLSHLHYLRETPLPHLTSDDVDKALQNSPRLMHARNTGGAAFIFPNTSVYPEATQRITTRP|gihignscsknnyl* LH00995:25:23T55JLT4:1:2169:19995:23840,LH00995:25:23T55JLT4:1:2179:16403:12266,LH00995:25:23T55JLT4:2:1166:48415:10991,LH00995:25:23T55JLT4:2:1198:22778:3186,LH00995:25:23T55JLT4:2:1252:30771:14424,LH00995:25:23T55JLT4:3:1194:19898:23027,LH00995:25:23T55JLT4:3:1194:19906:23013,LH00995:25:23T55JLT4:3:1194:19914:23027,LH00995:25:23T55JLT4:5:2473:30820:9968,LH00995:25:23T55JLT4:6:1228:2836:26180,LH00995:25:23T55JLT4:6:2238:16832:26713,LH00995:25:23T55JLT4:7:2141:5894:8693,LH00995:25:23T55JLT4:7:2416:1372:4223,LH00995:25:23T55JLT4:3:1282:36814:7740 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)| CDS/splice-site exon/splice-site 7 1 -/- -/- . 8 ENST00000417133 ENST00000415820 duplication 0.0004514672686230248 0.5 0.2502257336343115 1173_QJL Arriba
fp_audit 1173_QJL fusion AP001610--ERG ERG--AP001610 AP001610--ERG FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 ERG AP001610 38402557 41560452 chr21:38402557-chr21:41560452 -,- Arriba 1 0 2 2 PASS out-of-frame ERG--AP001610 AP001610--ERG confidence:low low duplication CDS/splice-site exon/splice-site 29208 1 2 0 False FAIL False chr21:38402557 chr21:41560452 chr21:38402557-chr21:41560452 . . low 29208 1 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) . CTCCACTACCTCAGAGAGA___CTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAG|GCATTCACATTGGCAACTCCTGTTCCAAGAATAATTATTTATGACAGATTTCAATTTTCG ERG AP001610.3 ENSG00000157554 ENSG00000232806 LHYLRETPLPHLTSDDVDKALQNSPRLMHARNT|gihignscsknnyl* LH00995:25:23T55JLT4:2:2215:41151:5162,LH00995:25:23T55JLT4:5:2446:45487:28674 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)| CDS/splice-site exon/splice-site 2 0 -/- -/- . 2 ENST00000442448 ENST00000415820 duplication 6.846970215679562e-05 0.0 3.423485107839781e-05 1173_QJL Arriba
fp_audit 1173_QJL fusion AP001610--ERG ERG--AP001610 AP001610--ERG FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 ERG AP001610 38400574 41560452 chr21:38400574-chr21:41560452 -,- Arriba 1 0 8 8 PASS out-of-frame ERG--AP001610 AP001610--ERG confidence:medium;duplicates(6) medium duplication CDS/splice-site exon/splice-site 15498 1 6.0 0.0 0.0 0.0 7 1 False duplicates(6) FAIL False chr21:38400574 chr21:41560452 chr21:38400574-chr21:41560452 . . medium 15498 1 upstream downstream 0 confidence_below_min(medium<high) duplicates(6) CCCAGCTACAACGCCGACATCCTTCTCTCACATCTCCACTACCTCAGAGAGA___CTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAG___GGGGTGCAGCTTTTATTTTCCCAAATACTTCAGTATATCCTGAAGCTACGCAAAGAATTACAACTAGGCCAG|GCATTCACATTGGCAACTCCTGTTCCAAGAATAATTATTTATGACAGATTTCAATTTTCGGGGCAGGGATGGTGTCTTACTCATCCTGGGCTTCAGGACATCTGTGTAACA ERG AP001610.3 ENSG00000157554 ENSG00000232806 PSYNADILLSHLHYLRETPLPHLTSDDVDKALQNSPRLMHARNTGGAAFIFPNTSVYPEATQRITTRP|gihignscsknnyl* LH00995:25:23T55JLT4:1:2169:19995:23840,LH00995:25:23T55JLT4:1:2179:16403:12266,LH00995:25:23T55JLT4:2:1166:48415:10991,LH00995:25:23T55JLT4:2:1198:22778:3186,LH00995:25:23T55JLT4:2:1252:30771:14424,LH00995:25:23T55JLT4:3:1194:19898:23027,LH00995:25:23T55JLT4:3:1194:19906:23013,LH00995:25:23T55JLT4:3:1194:19914:23027,LH00995:25:23T55JLT4:5:2473:30820:9968,LH00995:25:23T55JLT4:6:1228:2836:26180,LH00995:25:23T55JLT4:6:2238:16832:26713,LH00995:25:23T55JLT4:7:2141:5894:8693,LH00995:25:23T55JLT4:7:2416:1372:4223,LH00995:25:23T55JLT4:3:1282:36814:7740 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)| CDS/splice-site exon/splice-site 7 1 -/- -/- . 8 ENST00000417133 ENST00000415820 duplication 0.0004514672686230248 0.5 0.2502257336343115 1173_QJL Arriba
fp_audit 1173_QJL fusion AP001610--ERG ERG--AP001610 AP001610--ERG FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 ERG AP001610 38402557 41560452 chr21:38402557-chr21:41560452 -,- Arriba 1 0 2 2 PASS out-of-frame ERG--AP001610 AP001610--ERG confidence:low low duplication CDS/splice-site exon/splice-site 29208 1 2 0 False FAIL False chr21:38402557 chr21:41560452 chr21:38402557-chr21:41560452 . . low 29208 1 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) . CTCCACTACCTCAGAGAGA___CTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAG|GCATTCACATTGGCAACTCCTGTTCCAAGAATAATTATTTATGACAGATTTCAATTTTCG ERG AP001610.3 ENSG00000157554 ENSG00000232806 LHYLRETPLPHLTSDDVDKALQNSPRLMHARNT|gihignscsknnyl* LH00995:25:23T55JLT4:2:2215:41151:5162,LH00995:25:23T55JLT4:5:2446:45487:28674 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)| CDS/splice-site exon/splice-site 2 0 -/- -/- . 2 ENST00000442448 ENST00000415820 duplication 6.846970215679562e-05 0.0 3.423485107839781e-05 1173_QJL Arriba
fp_audit 1173_QJL fusion AP001610--ERG ERG--AP001610 AP001610--ERG FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 ERG AP001610 38400574 41560452 chr21:38400574-chr21:41560452 -,- Arriba 1 0 8 8 PASS out-of-frame ERG--AP001610 AP001610--ERG confidence:medium;duplicates(14) medium duplication CDS/splice-site exon/splice-site 16563 1 14.0 0.0 0.0 0.0 8 0 False duplicates(14) FAIL False chr21:38400574 chr21:41560452 chr21:38400574-chr21:41560452 . . medium 16563 1 upstream downstream 0 confidence_below_min(medium<high) duplicates(14) TCTCTCACATCTCCACTACCTCAGAGAGA___CTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAG___GGGGTGCAGCTTTTATTTTCCCAAATACTTCAGTATATCCTGAAGCTACGCAAAGAATTACAACTAGGCCAG|GCATTCACATTGGCAACTCCTGTTCCAAGAATAATTATTTATGACAGATTTCAATTTTCGGGGCAGGGATGGTGTCTTACTCATCCTGGGC ERG AP001610.3 ENSG00000157554 ENSG00000232806 LSHLHYLRETPLPHLTSDDVDKALQNSPRLMHARNTGGAAFIFPNTSVYPEATQRITTRP|gihignscsknnyl* LH00995:25:23T55JLT4:1:2133:35350:19300,LH00995:25:23T55JLT4:2:1214:40900:18487,LH00995:25:23T55JLT4:2:1457:38691:17128,LH00995:25:23T55JLT4:3:1147:43715:21038,LH00995:25:23T55JLT4:3:1191:44913:3438,LH00995:25:23T55JLT4:3:1191:44929:3438,LH00995:25:23T55JLT4:3:1287:9066:15895,LH00995:25:23T55JLT4:3:2280:11679:7306,LH00995:25:23T55JLT4:4:2171:21484:3410,LH00995:25:23T55JLT4:4:2453:33902:28030,LH00995:25:23T55JLT4:5:1111:19291:14802,LH00995:25:23T55JLT4:5:2196:26087:11327,LH00995:25:23T55JLT4:5:2275:33870:24555,LH00995:25:23T55JLT4:6:1129:22932:15447,LH00995:25:23T55JLT4:6:1289:42664:14200,LH00995:25:23T55JLT4:6:1467:31426:1603,LH00995:25:23T55JLT4:6:1486:44694:6002,LH00995:25:23T55JLT4:6:2428:24663:17380,LH00995:25:23T55JLT4:7:2320:13362:7221,LH00995:25:23T55JLT4:7:2416:18733:16301,LH00995:25:23T55JLT4:8:1221:31257:7894,LH00995:25:23T55JLT4:8:1312:5838:9800 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)| CDS/splice-site exon/splice-site 8 0 -/- -/- . 8 ENST00000417133 ENST00000415820 duplication 0.000482771106149297 0.0 0.0002413855530746485 1173_QJL Arriba
fp_audit 1173_QJL fusion AP001610--ERG ERG--AP001610 AP001610--ERG FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 ERG AP001610 38402557 41560452 chr21:38402557-chr21:41560452 -,- Arriba 1 0 3 3 PASS out-of-frame ERG--AP001610 AP001610--ERG confidence:medium medium duplication CDS/splice-site exon/splice-site 41753 1 2 1 False FAIL False chr21:38402557 chr21:41560452 chr21:38402557-chr21:41560452 . . medium 41753 1 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) . CTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAG|GCATTCACATTGGCAACTCCTGTTCCAAGAATAATTATTTATGACAGATTTCAATTTTCGGGGCAGGGATGGTGTCTTACTCATCCTGGGCTTCAGGACATCTGTGTAAC ERG AP001610.3 ENSG00000157554 ENSG00000232806 PLPHLTSDDVDKALQNSPRLMHARNT|gihignscsknnyl* LH00995:25:23T55JLT4:5:2123:42437:12910,LH00995:25:23T55JLT4:8:1264:23312:23784,LH00995:25:23T55JLT4:4:2478:32745:1925 out-of-frame Sterile_alpha_motif_(SAM)/Pointed_domain(100%)| CDS/splice-site exon/splice-site 2 1 -/- -/- . 3 ENST00000442448 ENST00000415820 duplication 4.7898455274817386e-05 0.5 0.25002394922763743 1173_QJL Arriba
fp_audit 1173_QJL fusion ERG--PCSEAT ERG--PCSEAT ERG--PCSEAT FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 ERG PCSEAT 38445404 41611957 chr21:38445404-chr21:41611957 -,- Arriba 1 0 13 13 PASS out-of-frame ERG--PCSEAT ERG--PCSEAT confidence:medium;duplicates(24),mismatches(3) medium duplication CDS/splice-site intergenic 43235 4 24.0 3.0 0.0 0.0 11 2 False duplicates(24),mismatches(3) FAIL False chr21:38445404 chr21:41611957 chr21:38445404-chr21:41611957 . . medium 43235 4 upstream downstream 0 confidence_below_min(medium<high) duplicates(24),mismatches(3) CGACTATGGACAGACTTCCAAGATGAGCCCACGCGTCCCTCAGCAGGATTGGCTGTCTCAACCCCCAGCCAGGGTCACCATCAAAATGGAATGTAACCCTAGCCAGGTGAATGGCTCAAG|GACGCAGAGTGCCTCCAGATGTGATTGAAAAATTAAGGTGATATAAAACACAGTGCAATAAAACACACCGTCGTATACACTTAAGG ERG PCSEAT(29070),LINC00111(67224) ENSG00000157554 . DYGQTSKMSPRVPQQDWLSQPPARVTIKMECNPSQVNGSr|tqsasrcd* LH00995:25:23T55JLT4:1:1335:48003:18179,LH00995:25:23T55JLT4:1:1344:14195:14214,LH00995:25:23T55JLT4:1:2254:28611:16988,LH00995:25:23T55JLT4:2:1272:29218:4839,LH00995:25:23T55JLT4:2:1311:1396:3508,LH00995:25:23T55JLT4:2:1343:5627:3578,LH00995:25:23T55JLT4:2:1476:32187:2667,LH00995:25:23T55JLT4:3:1130:5263:22537,LH00995:25:23T55JLT4:3:1135:24275:20547,LH00995:25:23T55JLT4:3:1209:45228:15138,LH00995:25:23T55JLT4:4:1369:15473:25423,LH00995:25:23T55JLT4:4:1447:22155:3648,LH00995:25:23T55JLT4:4:1467:37332:5946,LH00995:25:23T55JLT4:4:2258:42186:4769,LH00995:25:23T55JLT4:4:2286:25812:27413,LH00995:25:23T55JLT4:5:1184:15376:5526,LH00995:25:23T55JLT4:5:1285:39363:12966,LH00995:25:23T55JLT4:5:2166:16500:11677,LH00995:25:23T55JLT4:5:2173:24679:5386,LH00995:25:23T55JLT4:6:1108:11752:19847,LH00995:25:23T55JLT4:6:1159:42979:2808,LH00995:25:23T55JLT4:6:1235:42356:3830,LH00995:25:23T55JLT4:6:1291:32834:20547,LH00995:25:23T55JLT4:6:1309:50268:22131,LH00995:25:23T55JLT4:6:1309:50284:22131,LH00995:25:23T55JLT4:6:1427:13030:5106,LH00995:25:23T55JLT4:7:1212:9349:1617,LH00995:25:23T55JLT4:7:1261:20610:29165,LH00995:25:23T55JLT4:7:1270:13208:27189,LH00995:25:23T55JLT4:7:2403:11509:20911,LH00995:25:23T55JLT4:8:1133:46393:13989,LH00995:25:23T55JLT4:8:1196:32163:11257,LH00995:25:23T55JLT4:8:1196:32179:11257,LH00995:25:23T55JLT4:8:1334:29072:16161,LH00995:25:23T55JLT4:8:1402:7699:28520,LH00995:25:23T55JLT4:8:2197:11946:7432,LH00995:25:23T55JLT4:2:1163:20877:11551,LH00995:25:23T55JLT4:4:1318:28555:21710,LH00995:25:23T55JLT4:5:1489:28700:5484,LH00995:25:23T55JLT4:7:1415:5870:28548 out-of-frame . CDS/splice-site intergenic 11 2 -/- ./- . 13 ENST00000442448 . duplication 0.00025435878462748 0.3333333333333333 0.1667938460589804 1173_QJL Arriba
fp_audit 1173_QJL fusion ERG--PCSEAT ERG--PCSEAT ERG--PCSEAT FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 ERG PCSEAT 38445404 41611957 chr21:38445404-chr21:41611957 -,- Arriba 1 0 12 12 PASS out-of-frame ERG--PCSEAT ERG--PCSEAT confidence:medium;duplicates(13),mismatches(2) medium duplication CDS/splice-site intergenic 27408 4 13.0 2.0 0.0 0.0 9 3 False duplicates(13),mismatches(2) FAIL False chr21:38445404 chr21:41611957 chr21:38445404-chr21:41611957 . . medium 27408 4 upstream downstream 0 confidence_below_min(medium<high) duplicates(13),mismatches(2) TCCAAGATGAGCCCACGCGTCCCTCAGCAGGATTGGCTGTCTCAACCCCCAGCCAGGGTCACCATCAAAATGGAATGTAACCCTAGCCAGGTGAATGGCTCAAG|GACGCAGAGTGCCTCCAGATGTGATTGAAAAATTAAGGTGATATAAAACACAGTGCAATAAAACACACCGTCGTATACACTTAAGGCACAAGTGGAATCCTGAG ERG PCSEAT(29070),LINC00111(67224) ENSG00000157554 . SKMSPRVPQQDWLSQPPARVTIKMECNPSQVNGSr|tqsasrcd* LH00995:25:23T55JLT4:1:1109:26386:2738,LH00995:25:23T55JLT4:1:1397:7326:19440,LH00995:25:23T55JLT4:1:2206:32219:4517,LH00995:25:23T55JLT4:2:1152:43796:20057,LH00995:25:23T55JLT4:2:2175:6178:13807,LH00995:25:23T55JLT4:2:2382:41887:14256,LH00995:25:23T55JLT4:2:2446:2133:17086,LH00995:25:23T55JLT4:3:1367:16638:18557,LH00995:25:23T55JLT4:4:1480:3702:1364,LH00995:25:23T55JLT4:4:2143:51320:20197,LH00995:25:23T55JLT4:4:2385:9753:17058,LH00995:25:23T55JLT4:4:2485:21443:10318,LH00995:25:23T55JLT4:5:1487:3322:6591,LH00995:25:23T55JLT4:5:2116:5611:10612,LH00995:25:23T55JLT4:5:2465:42995:12756,LH00995:25:23T55JLT4:6:2214:14146:27721,LH00995:25:23T55JLT4:6:2267:42534:5596,LH00995:25:23T55JLT4:7:1156:19227:12504,LH00995:25:23T55JLT4:7:2476:20270:6717,LH00995:25:23T55JLT4:7:2491:51118:9618,LH00995:25:23T55JLT4:8:1348:17318:14158,LH00995:25:23T55JLT4:8:1349:28854:22509,LH00995:25:23T55JLT4:8:2209:3095:25115,LH00995:25:23T55JLT4:1:1488:23070:5456,LH00995:25:23T55JLT4:5:2306:14761:22313,LH00995:25:23T55JLT4:6:1319:51061:4671,LH00995:25:23T55JLT4:7:1237:1963:5974 out-of-frame . CDS/splice-site intergenic 9 3 -/- ./- . 12 ENST00000442448 . duplication 0.000328263486158223 0.42857142857142855 0.21444984602879338 1173_QJL Arriba
fp_audit 1173_QJL fusion ERG--PCSEAT ERG--PCSEAT ERG--PCSEAT FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_1 BND chr21 chr21 ERG PCSEAT 38445404 41611957 chr21:38445404-chr21:41611957 -,- Arriba 1 0 12 12 PASS out-of-frame ERG--PCSEAT ERG--PCSEAT confidence:medium;duplicates(13),mismatches(2) medium duplication CDS/splice-site intergenic 27408 4 13.0 2.0 0.0 0.0 9 3 False duplicates(13),mismatches(2) FAIL False chr21:38445404 chr21:41611957 chr21:38445404-chr21:41611957 . . medium 27408 4 upstream downstream 0 confidence_below_min(medium<high) duplicates(13),mismatches(2) TCCAAGATGAGCCCACGCGTCCCTCAGCAGGATTGGCTGTCTCAACCCCCAGCCAGGGTCACCATCAAAATGGAATGTAACCCTAGCCAGGTGAATGGCTCAAG|GACGCAGAGTGCCTCCAGATGTGATTGAAAAATTAAGGTGATATAAAACACAGTGCAATAAAACACACCGTCGTATACACTTAAGGCACAAGTGGAATCCTGAG ERG PCSEAT(29070),LINC00111(67224) ENSG00000157554 . SKMSPRVPQQDWLSQPPARVTIKMECNPSQVNGSr|tqsasrcd* LH00995:25:23T55JLT4:1:1109:26386:2738,LH00995:25:23T55JLT4:1:1397:7326:19440,LH00995:25:23T55JLT4:1:2206:32219:4517,LH00995:25:23T55JLT4:2:1152:43796:20057,LH00995:25:23T55JLT4:2:2175:6178:13807,LH00995:25:23T55JLT4:2:2382:41887:14256,LH00995:25:23T55JLT4:2:2446:2133:17086,LH00995:25:23T55JLT4:3:1367:16638:18557,LH00995:25:23T55JLT4:4:1480:3702:1364,LH00995:25:23T55JLT4:4:2143:51320:20197,LH00995:25:23T55JLT4:4:2385:9753:17058,LH00995:25:23T55JLT4:4:2485:21443:10318,LH00995:25:23T55JLT4:5:1487:3322:6591,LH00995:25:23T55JLT4:5:2116:5611:10612,LH00995:25:23T55JLT4:5:2465:42995:12756,LH00995:25:23T55JLT4:6:2214:14146:27721,LH00995:25:23T55JLT4:6:2267:42534:5596,LH00995:25:23T55JLT4:7:1156:19227:12504,LH00995:25:23T55JLT4:7:2476:20270:6717,LH00995:25:23T55JLT4:7:2491:51118:9618,LH00995:25:23T55JLT4:8:1348:17318:14158,LH00995:25:23T55JLT4:8:1349:28854:22509,LH00995:25:23T55JLT4:8:2209:3095:25115,LH00995:25:23T55JLT4:1:1488:23070:5456,LH00995:25:23T55JLT4:5:2306:14761:22313,LH00995:25:23T55JLT4:6:1319:51061:4671,LH00995:25:23T55JLT4:7:1237:1963:5974 out-of-frame . CDS/splice-site intergenic 9 3 -/- ./- . 12 ENST00000442448 . duplication 0.000328263486158223 0.42857142857142855 0.21444984602879338 1173_QJL Arriba
fp_audit 1173_QJL fusion ERG--PCSEAT ERG--PCSEAT ERG--PCSEAT FP FP Arriba dev_rna_exp0016 1173_QJL altera_exact 1173 clinical patient prostate Prostate 82 unknown False 1173_QJL_T1_RNA_SLD_01 tRNA altera_inhouse ssf 37.50 38.00 58.23 AIH_Ext13_RNA E01 False dev_rna_exp0016_lib_s80 100.00 85.24 dev_rna_exp0016 H10 False 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_QJL_T1_RNA_SLD_01_A23T55JLT4_2 BND chr21 chr21 ERG PCSEAT 38445404 41611957 chr21:38445404-chr21:41611957 -,- Arriba 1 0 13 13 PASS out-of-frame ERG--PCSEAT ERG--PCSEAT confidence:medium;duplicates(24),mismatches(3) medium duplication CDS/splice-site intergenic 43235 4 24.0 3.0 0.0 0.0 11 2 False duplicates(24),mismatches(3) FAIL False chr21:38445404 chr21:41611957 chr21:38445404-chr21:41611957 . . medium 43235 4 upstream downstream 0 confidence_below_min(medium<high) duplicates(24),mismatches(3) CGACTATGGACAGACTTCCAAGATGAGCCCACGCGTCCCTCAGCAGGATTGGCTGTCTCAACCCCCAGCCAGGGTCACCATCAAAATGGAATGTAACCCTAGCCAGGTGAATGGCTCAAG|GACGCAGAGTGCCTCCAGATGTGATTGAAAAATTAAGGTGATATAAAACACAGTGCAATAAAACACACCGTCGTATACACTTAAGG ERG PCSEAT(29070),LINC00111(67224) ENSG00000157554 . DYGQTSKMSPRVPQQDWLSQPPARVTIKMECNPSQVNGSr|tqsasrcd* LH00995:25:23T55JLT4:1:1335:48003:18179,LH00995:25:23T55JLT4:1:1344:14195:14214,LH00995:25:23T55JLT4:1:2254:28611:16988,LH00995:25:23T55JLT4:2:1272:29218:4839,LH00995:25:23T55JLT4:2:1311:1396:3508,LH00995:25:23T55JLT4:2:1343:5627:3578,LH00995:25:23T55JLT4:2:1476:32187:2667,LH00995:25:23T55JLT4:3:1130:5263:22537,LH00995:25:23T55JLT4:3:1135:24275:20547,LH00995:25:23T55JLT4:3:1209:45228:15138,LH00995:25:23T55JLT4:4:1369:15473:25423,LH00995:25:23T55JLT4:4:1447:22155:3648,LH00995:25:23T55JLT4:4:1467:37332:5946,LH00995:25:23T55JLT4:4:2258:42186:4769,LH00995:25:23T55JLT4:4:2286:25812:27413,LH00995:25:23T55JLT4:5:1184:15376:5526,LH00995:25:23T55JLT4:5:1285:39363:12966,LH00995:25:23T55JLT4:5:2166:16500:11677,LH00995:25:23T55JLT4:5:2173:24679:5386,LH00995:25:23T55JLT4:6:1108:11752:19847,LH00995:25:23T55JLT4:6:1159:42979:2808,LH00995:25:23T55JLT4:6:1235:42356:3830,LH00995:25:23T55JLT4:6:1291:32834:20547,LH00995:25:23T55JLT4:6:1309:50268:22131,LH00995:25:23T55JLT4:6:1309:50284:22131,LH00995:25:23T55JLT4:6:1427:13030:5106,LH00995:25:23T55JLT4:7:1212:9349:1617,LH00995:25:23T55JLT4:7:1261:20610:29165,LH00995:25:23T55JLT4:7:1270:13208:27189,LH00995:25:23T55JLT4:7:2403:11509:20911,LH00995:25:23T55JLT4:8:1133:46393:13989,LH00995:25:23T55JLT4:8:1196:32163:11257,LH00995:25:23T55JLT4:8:1196:32179:11257,LH00995:25:23T55JLT4:8:1334:29072:16161,LH00995:25:23T55JLT4:8:1402:7699:28520,LH00995:25:23T55JLT4:8:2197:11946:7432,LH00995:25:23T55JLT4:2:1163:20877:11551,LH00995:25:23T55JLT4:4:1318:28555:21710,LH00995:25:23T55JLT4:5:1489:28700:5484,LH00995:25:23T55JLT4:7:1415:5870:28548 out-of-frame . CDS/splice-site intergenic 11 2 -/- ./- . 13 ENST00000442448 . duplication 0.00025435878462748 0.3333333333333333 0.1667938460589804 1173_QJL Arriba
fp_audit 1173_RPC fusion AKT3--SDCCAG8 AKT3--SDCCAG8 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_RPC altera_exact 1173 clinical patient sarcoma Sarcoma 62 unknown False 1173_RPC_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 35.00 54.89 AIH_Ext12_RNA B02 False dev_rna_exp0016_lib_s10 200.00 41.29 dev_rna_exp0016 B02 False 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 AKT3 SDCCAG8 243843125 243372345 chr1:243843125-chr1:243372345 -,- Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;duplicates(7) low deletion/5'-5' CDS/splice-site intron 7977 0 7.0 0.0 0.0 0.0 1 0 False duplicates(7) FAIL False chr1:243843125 chr1:243372345 chr1:243843125-chr1:243372345 . . low 7977 0 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(7) GGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGG|GGTGACTTGTTTGTGTAACAGAAGATGAGAATGGG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 MSDVTIVKEGWVQKR|g* LH00995:25:23T55JLT4:1:2112:2513:28618,LH00995:25:23T55JLT4:1:2157:48561:25367,LH00995:25:23T55JLT4:2:1433:1364:14746,LH00995:25:23T55JLT4:2:2410:8273:21668,LH00995:25:23T55JLT4:4:1434:23070:5064,LH00995:25:23T55JLT4:5:2179:48424:4139,LH00995:25:23T55JLT4:6:2489:13887:9393,LH00995:25:23T55JLT4:8:1113:12108:20771 out-of-frame PH_domain(9%)| CDS/splice-site intron 1 0 -/- +/- . 1 ENST00000336199 . deletion/5'-5' 0.000125344697919278 1173_RPC Arriba
fp_audit 1173_RPC fusion AKT3--SDCCAG8 AKT3--SDCCAG8 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_RPC altera_exact 1173 clinical patient sarcoma Sarcoma 62 unknown False 1173_RPC_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 35.00 54.89 AIH_Ext12_RNA B02 False dev_rna_exp0016_lib_s10 200.00 41.29 dev_rna_exp0016 B02 False 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243843125 243426427 chr1:243843125-chr1:243426427 -,+ STAR-Fusion 1 0 1 0.0364 1 FAIL out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 "[""ChimerSeq"",""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:-:+:[11858]""]" ONLY_REF_SPLICE YES_LDAS 1.6402 False False True GT AG 1 False Read count too low: 1 < 8 TCGA_StarF2019;ChimerSeq 0 ENST00000680056.1 1-46 ENST00000435549.1 957-1245 0.0364 FAIL atgagcgatgttaccattgtgaaagaaggttgggttcagaagagggATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATCTGATTGCTGA chr1|-|[0]243843125-243843170[0]<==>chr1|+|[2]243426427-243426558[1]|[2]243489014-243489140[2]|[0]243499756-243499785[2] MSDVTIVKEGWVQKRDLK*LNSVKKKGIHMINWESYREEMKNWRNSVSSMGEYMRR*SKG*GSWISTARPQPSSWCSSSASRTSFSWRGRACRKRWTGCGPSYPACHNLIA AKT3--SDCCAG8 1 LH00995:25:23T55JLT4:5:1351:25375:2724 YES_LDAS GT 1.6402 chr1:243843125:- AKT3^ENSG00000117020.19 PH-PARTIAL|16-46~|9.4e-08^Pkinase-PARTIAL|33-46~|0.99 . FRAMESHIFT AG 1.8892 chr1:243426427:+ SDCCAG8^ENSG00000054282.16 0 . ONLY_REF_SPLICE "[""ChimerSeq"",""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:-:+:[11858]""]" False chr1:243843125-chr1:243426427 1.0 0.0 Read count too low: 1 < 8 1 1173_RPC STAR-Fusion
fp_audit 1173_RPC fusion AKT3--SDCCAG8 AKT3--SDCCAG8 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_RPC altera_exact 1173 clinical patient sarcoma Sarcoma 62 unknown False 1173_RPC_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 35.00 54.89 AIH_Ext12_RNA B02 False dev_rna_exp0016_lib_s10 200.00 41.29 dev_rna_exp0016 B02 False 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243695591 243378721 chr1:243695591-chr1:243378721 -,+ STAR-Fusion 1 0 1 0.0364 1 FAIL out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 "[""ChimerSeq"",""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:-:+:[11858]""]" ONLY_REF_SPLICE NO_LDAS 1.4566 False False True GT AG 1 False Read count too low: 1 < 8 TCGA_StarF2019;ChimerSeq 0 ENST00000263826.12 1-172 ENST00000366541.8 1474-2142 0.0364 FAIL atgagcgatgttaccattgtgaaagaaggttgggttcagaagaggggagaatatataaaaaactggaggccaagatacttccttttgaagacagatggctcattcataggatataaagagaaacctcaagatgtggatttaccttatcccctcaacaacttttcagtggcaaGAAATAGAGAAATTGAGAATAGAACTGGATGAAAGCAAACAACACTTGGAACAGGAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAGACAGGAAAAAGATAGCATTCAGCAGAGCTTTAGCAAGGAAGCAAAGGCCCAAGCCCTTCAGGCCCAGCAAAGAGAGCAGGAGCTGACACAGAAGATACAGCAAATGGAGGCCCAGCATGACAAAACTGAAAATGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAGATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATCTGATTGCTGA chr1|-|[0]243695591-243695716[1]|[0]243843125-243843170[0]<==>chr1|+|[0]243378721-243378863[1]|[2]243415702-243415829[0]|[1]243417968-243418076[1]|[2]243426427-243426558[1]|[2]243489014-243489140[2]|[0]243499756-243499785[2] MSDVTIVKEGWVQKRGEYIKNWRPRYFLLKTDGSFIGYKEKPQDVDLPYPLNNFSVARNREIENRTG*KQTTLGTGAAEGSPGQRGVPETNRTAGRI*APTAPHQTGKR*HSAEL*QGSKGPSPSGPAKRAGADTEDTANGGPA*QN*K*TVFVADLPEYIFDKVKGRMLYISQETGTNLSKNQI*NSSTQSRKKVYI**IGKVTEKK*RIGGTVCPAWEST*DDEAKAKAAG*AQPGHSPAAGAAPQQAEPASPGEAEPVGRGGPAADPVTQHATI*LL AKT3--SDCCAG8 1 LH00995:25:23T55JLT4:7:2497:24307:4881 NO_LDAS GT 1.9656 chr1:243695591:- AKT3^ENSG00000117020.19 PH|7-105|7.6e-18^PH_11|8-103|0.00038^Pkinase|74-119|1.2^FTA2-PARTIAL|143-172~|0.00028^Pkinase-PARTIAL|150-172~|7.8e-81^PK_Tyr_Ser-Thr-PARTIAL|151-172~|7.1e-40^Kinase-like-PARTIAL|152-172~|0.24 . FRAMESHIFT AG 1.4566 chr1:243378721:+ SDCCAG8^ENSG00000054282.16 0 . ONLY_REF_SPLICE "[""ChimerSeq"",""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:-:+:[11858]""]" False chr1:243695591-chr1:243378721 1.0 0.0 Read count too low: 1 < 8 1 1173_RPC STAR-Fusion
fp_audit 1173_RPC fusion AKT3--SDCCAG8 AKT3--SDCCAG8 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_RPC altera_exact 1173 clinical patient sarcoma Sarcoma 62 unknown False 1173_RPC_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 35.00 54.89 AIH_Ext12_RNA B02 False dev_rna_exp0016_lib_s10 200.00 41.29 dev_rna_exp0016 B02 False 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 AKT3 SDCCAG8 243843125 243372345 chr1:243843125-chr1:243372345 -,- Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;duplicates(7) low deletion/5'-5' CDS/splice-site intron 7977 0 7.0 0.0 0.0 0.0 1 0 False duplicates(7) FAIL False chr1:243843125 chr1:243372345 chr1:243843125-chr1:243372345 . . low 7977 0 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(7) GGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGG|GGTGACTTGTTTGTGTAACAGAAGATGAGAATGGG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 MSDVTIVKEGWVQKR|g* LH00995:25:23T55JLT4:1:2112:2513:28618,LH00995:25:23T55JLT4:1:2157:48561:25367,LH00995:25:23T55JLT4:2:1433:1364:14746,LH00995:25:23T55JLT4:2:2410:8273:21668,LH00995:25:23T55JLT4:4:1434:23070:5064,LH00995:25:23T55JLT4:5:2179:48424:4139,LH00995:25:23T55JLT4:6:2489:13887:9393,LH00995:25:23T55JLT4:8:1113:12108:20771 out-of-frame PH_domain(9%)| CDS/splice-site intron 1 0 -/- +/- . 1 ENST00000336199 . deletion/5'-5' 0.000125344697919278 1173_RPC Arriba
fp_audit 1173_RPC fusion AKT3--SDCCAG8 AKT3--SDCCAG8 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_RPC altera_exact 1173 clinical patient sarcoma Sarcoma 62 unknown False 1173_RPC_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 35.00 54.89 AIH_Ext12_RNA B02 False dev_rna_exp0016_lib_s10 200.00 41.29 dev_rna_exp0016 B02 False 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243843125 243426427 chr1:243843125-chr1:243426427 -,+ STAR-Fusion 1 0 1 0.0364 1 FAIL out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 "[""ChimerSeq"",""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:-:+:[11858]""]" ONLY_REF_SPLICE YES_LDAS 1.6402 False False True GT AG 1 False Read count too low: 1 < 8 TCGA_StarF2019;ChimerSeq 0 ENST00000680056.1 1-46 ENST00000435549.1 957-1245 0.0364 FAIL atgagcgatgttaccattgtgaaagaaggttgggttcagaagagggATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATCTGATTGCTGA chr1|-|[0]243843125-243843170[0]<==>chr1|+|[2]243426427-243426558[1]|[2]243489014-243489140[2]|[0]243499756-243499785[2] MSDVTIVKEGWVQKRDLK*LNSVKKKGIHMINWESYREEMKNWRNSVSSMGEYMRR*SKG*GSWISTARPQPSSWCSSSASRTSFSWRGRACRKRWTGCGPSYPACHNLIA AKT3--SDCCAG8 1 LH00995:25:23T55JLT4:5:1351:25375:2724 YES_LDAS GT 1.6402 chr1:243843125:- AKT3^ENSG00000117020.19 PH-PARTIAL|16-46~|9.4e-08^Pkinase-PARTIAL|33-46~|0.99 . FRAMESHIFT AG 1.8892 chr1:243426427:+ SDCCAG8^ENSG00000054282.16 0 . ONLY_REF_SPLICE "[""ChimerSeq"",""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:-:+:[11858]""]" False chr1:243843125-chr1:243426427 1.0 0.0 Read count too low: 1 < 8 1 1173_RPC STAR-Fusion
fp_audit 1173_RPC fusion AKT3--SDCCAG8 AKT3--SDCCAG8 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_RPC altera_exact 1173 clinical patient sarcoma Sarcoma 62 unknown False 1173_RPC_T1_RNA_SLD_01 tRNA altera_inhouse ssf 71.30 35.00 54.89 AIH_Ext12_RNA B02 False dev_rna_exp0016_lib_s10 200.00 41.29 dev_rna_exp0016 B02 False 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243695591 243378721 chr1:243695591-chr1:243378721 -,+ STAR-Fusion 1 0 1 0.0364 1 FAIL out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 "[""ChimerSeq"",""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:-:+:[11858]""]" ONLY_REF_SPLICE NO_LDAS 1.4566 False False True GT AG 1 False Read count too low: 1 < 8 TCGA_StarF2019;ChimerSeq 0 ENST00000263826.12 1-172 ENST00000366541.8 1474-2142 0.0364 FAIL atgagcgatgttaccattgtgaaagaaggttgggttcagaagaggggagaatatataaaaaactggaggccaagatacttccttttgaagacagatggctcattcataggatataaagagaaacctcaagatgtggatttaccttatcccctcaacaacttttcagtggcaaGAAATAGAGAAATTGAGAATAGAACTGGATGAAAGCAAACAACACTTGGAACAGGAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAGACAGGAAAAAGATAGCATTCAGCAGAGCTTTAGCAAGGAAGCAAAGGCCCAAGCCCTTCAGGCCCAGCAAAGAGAGCAGGAGCTGACACAGAAGATACAGCAAATGGAGGCCCAGCATGACAAAACTGAAAATGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAGATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATCTGATTGCTGA chr1|-|[0]243695591-243695716[1]|[0]243843125-243843170[0]<==>chr1|+|[0]243378721-243378863[1]|[2]243415702-243415829[0]|[1]243417968-243418076[1]|[2]243426427-243426558[1]|[2]243489014-243489140[2]|[0]243499756-243499785[2] MSDVTIVKEGWVQKRGEYIKNWRPRYFLLKTDGSFIGYKEKPQDVDLPYPLNNFSVARNREIENRTG*KQTTLGTGAAEGSPGQRGVPETNRTAGRI*APTAPHQTGKR*HSAEL*QGSKGPSPSGPAKRAGADTEDTANGGPA*QN*K*TVFVADLPEYIFDKVKGRMLYISQETGTNLSKNQI*NSSTQSRKKVYI**IGKVTEKK*RIGGTVCPAWEST*DDEAKAKAAG*AQPGHSPAAGAAPQQAEPASPGEAEPVGRGGPAADPVTQHATI*LL AKT3--SDCCAG8 1 LH00995:25:23T55JLT4:7:2497:24307:4881 NO_LDAS GT 1.9656 chr1:243695591:- AKT3^ENSG00000117020.19 PH|7-105|7.6e-18^PH_11|8-103|0.00038^Pkinase|74-119|1.2^FTA2-PARTIAL|143-172~|0.00028^Pkinase-PARTIAL|150-172~|7.8e-81^PK_Tyr_Ser-Thr-PARTIAL|151-172~|7.1e-40^Kinase-like-PARTIAL|152-172~|0.24 . FRAMESHIFT AG 1.4566 chr1:243378721:+ SDCCAG8^ENSG00000054282.16 0 . ONLY_REF_SPLICE "[""ChimerSeq"",""TCGA_StarF2019"",""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:-:+:[11858]""]" False chr1:243695591-chr1:243378721 1.0 0.0 Read count too low: 1 < 8 1 1173_RPC STAR-Fusion
fp_audit 1173_RQT fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_RQT altera_exact 1173 clinical patient sarcoma Sarcoma 84 unknown False 1173_RQT_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.20 35.00 22.07 AIH_Ext12_RNA G02 False dev_rna_exp0016_lib_s15 200.00 28.48 dev_rna_exp0016 G02 False 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 4 4 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:high;duplicates(18) high inversion CDS/splice-site 5'UTR/splice-site 551 1154 18.0 0.0 0.0 0.0 2 2 False duplicates(18) FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . high 551 1154 downstream downstream 0 total_reads_below_min(4.0<8.0) duplicates(18) GAGTGCGTGCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MAKSPENSTLEEILGQYQRSLR|g* LH00995:25:23T55JLT4:2:1139:6590:19875,LH00995:25:23T55JLT4:3:1153:22536:8342,LH00995:25:23T55JLT4:3:1274:48828:17955,LH00995:25:23T55JLT4:3:1346:32907:26811,LH00995:25:23T55JLT4:4:1343:3637:9716,LH00995:25:23T55JLT4:6:2296:40253:16778,LH00995:25:23T55JLT4:1:1165:42615:21318,LH00995:25:23T55JLT4:2:1197:51166:21836,LH00995:25:23T55JLT4:2:2213:12391:9239,LH00995:25:23T55JLT4:3:2222:14656:17927,LH00995:25:23T55JLT4:3:2424:17156:14802,LH00995:25:23T55JLT4:4:2414:14672:23223,LH00995:25:23T55JLT4:5:1138:50551:9057,LH00995:25:23T55JLT4:5:1221:24364:20309,LH00995:25:23T55JLT4:5:1438:7213:20841,LH00995:25:23T55JLT4:8:1177:21848:14410,LH00995:25:23T55JLT4:8:1177:21856:14396,LH00995:25:23T55JLT4:8:1177:21856:14424,LH00995:25:23T55JLT4:8:1421:32915:28058,LH00995:25:23T55JLT4:8:1421:32923:28072,LH00995:25:23T55JLT4:8:2112:41863:10430,LH00995:25:23T55JLT4:8:2319:46547:17422 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 2 2 +/+ -/- . 4 ENST00000366541 ENST00000673466 inversion 0.003616636528028933 0.0017301038062283738 0.0026733701671286534 1173_RQT Arriba
fp_audit 1173_RQT fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_RQT altera_exact 1173 clinical patient sarcoma Sarcoma 84 unknown False 1173_RQT_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.20 35.00 22.07 AIH_Ext12_RNA G02 False dev_rna_exp0016_lib_s15 200.00 28.48 dev_rna_exp0016 G02 False 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243378863 243664883 chr1:243378863-chr1:243664883 +,- STAR-Fusion 1 0 1 0.0052 1 FAIL out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 "[""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:+:-:[11858]""]" ONLY_REF_SPLICE NO_LDAS 1.7968 False False True GT AG 1 False Read count too low: 1 < 8 0 ENST00000366541.8 1-1616 ENST00000680056.1 47-1314 0.0052 FAIL atggcgaagtccccggagaactctaccctggaggagattctggggcagtatcaacggagtctccgggaacatgccagcagaagcattcaccaactgacatgtgccctgaaagaaggcgatgtcactattggagaagatgcaccaaatctttcttttagcaccagtgtgggaaatgaggacgccaggacagcctggcccgaattacaacagagccatgctgttaatcagctcaaagatttgttgcgccaacaagcagataaggaaagtgaagtatctccgtcaagaagaagaaaaatgtcccccttgaggtcattagaacatgaggaaaccaatatgcctactatgcacgaccttgttcatactattaatgaccagtctcaatatattcatcatttagaggcagaagttaagttctgcaaggaggaactctctggaatgaaaaataaaatacaagtagttgtgcttgaaaacgaagggctccagcaacagctaaaatctcaaagacaagaggagacactgagggaacaaacacttctggatgcatccggaaacatgcacaattcttggattacaacaggtgaagattctggggtgggcgaaacctccaaaagaccattttcccatgacaatgcagattttggcaaagctgcatctgctggtgagcagctagaactggagaagctaaaacttacttatgaggaaaagtgtgaaattgaggaatcccaattgaagtttttgaggaacgacttagctgaatatcagagaacttgtgaagatcttaaagagcaactaaagcataaagaatttcttctggctgctaatacttgtaaccgtgttggtggtctttgtttgaaatgtgctcagcatgaagctgttctttcccaaacccatactaatgttcatatgcagaccatcgaaagactggttaaagaaagagatgacttgatgtctgcactagtttccgtaaggagcagcttggcagatacgcagcaaagagaagcaagtgcttatgaacaggtgaaacaagttttgcaaatatctgaggaagccaattttgaaaaaaccaaggctttaatccagtgtgaccagttgaggaaggagctggagaggcaggcggagcgacttgaaaaagaacttgcatctcagcaagagaaaagggccattgagaaagacatgatgaaaaaggaaataacgaaagaaagggagtacatgggatcaaagatgttgatcttgtctcagaatattgcccaactggaggcccaggtggaaaaggttacaaaggaaaagatttcagctattaatcaactggaggaaattcaaagccagctggcttctcgggaaatggatgtcacaaaggtgtgtggagaaatgcgctatcagctgaataaaaccaacatggagaaggatgaggcagaaaaggagcacagagagttcagagcaaaaactaacagggatcttgaaattaaagatcaggaaatagagaaattgagaatagaactggatgaaagcaaacaacacttggaacaggagcagcagaaggcagccctggccagagaggagtgcctgagactaacagaactgctgggcgaatctgagcaccaactgcacctcaccagAATGCCAGTTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACTACTGTTATAGAGAGAACATTTCATGTAGATACTCCAGAGGAAAGGGAAGAATGGACAGAAGCTATCCAGGCTGTAGCAGACAGACTGCAGAGGCAAGAAGAGGAGAGAATGAATTGTAGTCCAACTTCACAAATTGATAATATAGGAGAGGAAGAGATGGATGCCTCTACAACCCATCATAAAAGAAAGACAATGAATGATTTTGACTATTTGAAACTACTAGGTAAAGGCACTTTTGGGAAAGTTATTTTGGTTCGAGAGAAGGCAAGTGGAAAATACTATGCTATGAAGATTCTGAAGAAAGAAGTCATTATTGCAAAGGATGAAGTGGCACACACTCTAACTGAAAGCAGAGTATTAAAGAACACTAGACATCCCTTTTTAACATCCTTGAAATATTCCTTCCAGACAAAAGACCGTTTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAGCTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGACTATCTACATTCCGGAAAGATTGTGTACCGTGATCTCAAGTTGGAGAATCTAATGCTGGACAAAGATGGCCACATAAAAATTACAGATTTTGGACTTTGCAAAGAAGGGATCACAGATGCAGCCACCATGAAGACATTCTGTGGCACTCCAGAATATCTGGCACCAGAGGTGTTAGAAGATAATGACTATGGCCGAGCAGTAGACTGGTGGGGCCTAGGGGTTGTCATGTATGAAATGATGTGTGGGAGGTTACCTTTCTACAACCAGGACCATGAGAAACTTTTTGAATTAATATTAATGGAAGACATTAAATTTCCTCGAACACTCTCTTCAGATGCAAAATCATTGCTTTCAGGGCTCTTGATAAAGGATCCAAATAAACGCCTTGGTGGAGGACCAGATGATGCAAAAGAAATTATGAGACACAGTTTCTTCTCTGGAGTAAACTGGCAAGATGTATATGATAAAAAGCTTGTACCTCCTTTTAAACCTCAAGTAACATCTGAGACAGATACTAGATATTTTGATGAAGAATTTACAGCTCAGACTATTACAATAACACCACCTGAAAAATATGATGAGGATGGTATGGACTGCATGGACAATGAGAGGCGGCCGCATTTCCCTCAATTTTCCTACTCTGCAAGTGGACGAGAATAA chr1|+|[0]243256174-243256240[0]|[1]243270105-243270257[0]|[1]243270978-243271063[2]|[0]243274543-243274656[2]|[0]243286272-243286397[2]|[0]243293091-243293219[2]|[0]243304713-243304777[1]|[2]243307989-243308177[1]|[2]243316755-243316893[2]|[0]243330540-243330692[2]|[0]243341039-243341173[2]|[0]243344215-243344331[2]|[0]243378721-243378863[1]<==>chr1|-|[2]243505249-243505334[1]|[0]243512324-243512426[0]|[2]243545510-243545597[2]|[1]243552729-243552943[0]|[2]243563720-243563848[0]|[2]243572926-243573048[0]|[2]243613671-243613739[0]|[2]243615096-243615161[0]|[2]243637611-243637742[0]|[2]243645893-243646037[2]|[1]243664772-243664883[1] MAKSPENSTLEEILGQYQRSLREHASRSIHQLTCALKEGDVTIGEDAPNLSFSTSVGNEDARTAWPELQQSHAVNQLKDLLRQQADKESEVSPSRRRKMSPLRSLEHEETNMPTMHDLVHTINDQSQYIHHLEAEVKFCKEELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLDASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAASAGEQLELEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNVHMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRMPVNENRTTKAKHIYNQMSPVDYCYRENISCRYSRGKGRMDRSYPGCSRQTAEARRGENEL*SNFTN**YRRGRDGCLYNPS*KKDNE*F*LFETTR*RHFWESYFGSREGKWKILCYEDSEERSHYCKG*SGTHSN*KQSIKEH*TSLFNILEIFLPDKRPFVFCDGIC*WGRAVFPFVERAGVL*GPHTFLWCRNCLCLGLSTFRKDCVP*SQVGESNAGQRWPHKNYRFWTLQRRDHRCSHHEDILWHSRISGTRGVRR**LWPSSRLVGPRGCHV*NDVWEVTFLQPGP*ETF*ININGRH*ISSNTLFRCKIIAFRALDKGSK*TPWWRTR*CKRNYETQFLLWSKLARCI**KACTSF*TSSNI*DRY*IF**RIYSSDYYNNTT*KI**GWYGLHGQ*EAAAFPSIFLLCKWTRI SDCCAG8--AKT3 1 LH00995:25:23T55JLT4:1:2388:10069:24387 NO_LDAS GT 1.7968 chr1:243378863:+ SDCCAG8^ENSG00000054282.16 CCCAP|6-705|0^MTES_1575|155-187|0.15^MTES_1575|346-372|0.22^Aegerolysin|458-512|1.9e-05^MTES_1575|481-523|0.00037^Aegerolysin|561-581|1.5 Pkinase-PARTIAL|~47-77|0.99^PH-PARTIAL|~47-63|9.4e-08^FTA2|101-140|0.00021^Pkinase|108-363|5.2e-81^PK_Tyr_Ser-Thr|109-346|4.8e-40^Kinase-like|110-136|0.19^PH|172-193|1.8^FTA2|211-236|0.0037^Kinase-like|213-343|6.4e-11^Pkinase_C|384-431|1.6e-11 FRAMESHIFT AG 1.8892 chr1:243664883:- AKT3^ENSG00000117020.19 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:+:-:[11858]""]" False chr1:243378863-chr1:243664883 1.0 0.0 Read count too low: 1 < 8 1 1173_RQT STAR-Fusion
fp_audit 1173_RQT fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_RQT altera_exact 1173 clinical patient sarcoma Sarcoma 84 unknown False 1173_RQT_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.20 35.00 22.07 AIH_Ext12_RNA G02 False dev_rna_exp0016_lib_s15 200.00 28.48 dev_rna_exp0016 G02 False 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 4 4 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:high;duplicates(18) high inversion CDS/splice-site 5'UTR/splice-site 551 1154 18.0 0.0 0.0 0.0 2 2 False duplicates(18) FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . high 551 1154 downstream downstream 0 total_reads_below_min(4.0<8.0) duplicates(18) GAGTGCGTGCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MAKSPENSTLEEILGQYQRSLR|g* LH00995:25:23T55JLT4:2:1139:6590:19875,LH00995:25:23T55JLT4:3:1153:22536:8342,LH00995:25:23T55JLT4:3:1274:48828:17955,LH00995:25:23T55JLT4:3:1346:32907:26811,LH00995:25:23T55JLT4:4:1343:3637:9716,LH00995:25:23T55JLT4:6:2296:40253:16778,LH00995:25:23T55JLT4:1:1165:42615:21318,LH00995:25:23T55JLT4:2:1197:51166:21836,LH00995:25:23T55JLT4:2:2213:12391:9239,LH00995:25:23T55JLT4:3:2222:14656:17927,LH00995:25:23T55JLT4:3:2424:17156:14802,LH00995:25:23T55JLT4:4:2414:14672:23223,LH00995:25:23T55JLT4:5:1138:50551:9057,LH00995:25:23T55JLT4:5:1221:24364:20309,LH00995:25:23T55JLT4:5:1438:7213:20841,LH00995:25:23T55JLT4:8:1177:21848:14410,LH00995:25:23T55JLT4:8:1177:21856:14396,LH00995:25:23T55JLT4:8:1177:21856:14424,LH00995:25:23T55JLT4:8:1421:32915:28058,LH00995:25:23T55JLT4:8:1421:32923:28072,LH00995:25:23T55JLT4:8:2112:41863:10430,LH00995:25:23T55JLT4:8:2319:46547:17422 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 2 2 +/+ -/- . 4 ENST00000366541 ENST00000673466 inversion 0.003616636528028933 0.0017301038062283738 0.0026733701671286534 1173_RQT Arriba
fp_audit 1173_RQT fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_RQT altera_exact 1173 clinical patient sarcoma Sarcoma 84 unknown False 1173_RQT_T1_RNA_SLD_01 tRNA altera_inhouse ssf 47.20 35.00 22.07 AIH_Ext12_RNA G02 False dev_rna_exp0016_lib_s15 200.00 28.48 dev_rna_exp0016 G02 False 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_2 BND chr1 chr1 SDCCAG8 AKT3 243378863 243664883 chr1:243378863-chr1:243664883 +,- STAR-Fusion 1 0 1 0.0052 1 FAIL out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 "[""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:+:-:[11858]""]" ONLY_REF_SPLICE NO_LDAS 1.7968 False False True GT AG 1 False Read count too low: 1 < 8 0 ENST00000366541.8 1-1616 ENST00000680056.1 47-1314 0.0052 FAIL atggcgaagtccccggagaactctaccctggaggagattctggggcagtatcaacggagtctccgggaacatgccagcagaagcattcaccaactgacatgtgccctgaaagaaggcgatgtcactattggagaagatgcaccaaatctttcttttagcaccagtgtgggaaatgaggacgccaggacagcctggcccgaattacaacagagccatgctgttaatcagctcaaagatttgttgcgccaacaagcagataaggaaagtgaagtatctccgtcaagaagaagaaaaatgtcccccttgaggtcattagaacatgaggaaaccaatatgcctactatgcacgaccttgttcatactattaatgaccagtctcaatatattcatcatttagaggcagaagttaagttctgcaaggaggaactctctggaatgaaaaataaaatacaagtagttgtgcttgaaaacgaagggctccagcaacagctaaaatctcaaagacaagaggagacactgagggaacaaacacttctggatgcatccggaaacatgcacaattcttggattacaacaggtgaagattctggggtgggcgaaacctccaaaagaccattttcccatgacaatgcagattttggcaaagctgcatctgctggtgagcagctagaactggagaagctaaaacttacttatgaggaaaagtgtgaaattgaggaatcccaattgaagtttttgaggaacgacttagctgaatatcagagaacttgtgaagatcttaaagagcaactaaagcataaagaatttcttctggctgctaatacttgtaaccgtgttggtggtctttgtttgaaatgtgctcagcatgaagctgttctttcccaaacccatactaatgttcatatgcagaccatcgaaagactggttaaagaaagagatgacttgatgtctgcactagtttccgtaaggagcagcttggcagatacgcagcaaagagaagcaagtgcttatgaacaggtgaaacaagttttgcaaatatctgaggaagccaattttgaaaaaaccaaggctttaatccagtgtgaccagttgaggaaggagctggagaggcaggcggagcgacttgaaaaagaacttgcatctcagcaagagaaaagggccattgagaaagacatgatgaaaaaggaaataacgaaagaaagggagtacatgggatcaaagatgttgatcttgtctcagaatattgcccaactggaggcccaggtggaaaaggttacaaaggaaaagatttcagctattaatcaactggaggaaattcaaagccagctggcttctcgggaaatggatgtcacaaaggtgtgtggagaaatgcgctatcagctgaataaaaccaacatggagaaggatgaggcagaaaaggagcacagagagttcagagcaaaaactaacagggatcttgaaattaaagatcaggaaatagagaaattgagaatagaactggatgaaagcaaacaacacttggaacaggagcagcagaaggcagccctggccagagaggagtgcctgagactaacagaactgctgggcgaatctgagcaccaactgcacctcaccagAATGCCAGTTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACTACTGTTATAGAGAGAACATTTCATGTAGATACTCCAGAGGAAAGGGAAGAATGGACAGAAGCTATCCAGGCTGTAGCAGACAGACTGCAGAGGCAAGAAGAGGAGAGAATGAATTGTAGTCCAACTTCACAAATTGATAATATAGGAGAGGAAGAGATGGATGCCTCTACAACCCATCATAAAAGAAAGACAATGAATGATTTTGACTATTTGAAACTACTAGGTAAAGGCACTTTTGGGAAAGTTATTTTGGTTCGAGAGAAGGCAAGTGGAAAATACTATGCTATGAAGATTCTGAAGAAAGAAGTCATTATTGCAAAGGATGAAGTGGCACACACTCTAACTGAAAGCAGAGTATTAAAGAACACTAGACATCCCTTTTTAACATCCTTGAAATATTCCTTCCAGACAAAAGACCGTTTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAGCTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGACTATCTACATTCCGGAAAGATTGTGTACCGTGATCTCAAGTTGGAGAATCTAATGCTGGACAAAGATGGCCACATAAAAATTACAGATTTTGGACTTTGCAAAGAAGGGATCACAGATGCAGCCACCATGAAGACATTCTGTGGCACTCCAGAATATCTGGCACCAGAGGTGTTAGAAGATAATGACTATGGCCGAGCAGTAGACTGGTGGGGCCTAGGGGTTGTCATGTATGAAATGATGTGTGGGAGGTTACCTTTCTACAACCAGGACCATGAGAAACTTTTTGAATTAATATTAATGGAAGACATTAAATTTCCTCGAACACTCTCTTCAGATGCAAAATCATTGCTTTCAGGGCTCTTGATAAAGGATCCAAATAAACGCCTTGGTGGAGGACCAGATGATGCAAAAGAAATTATGAGACACAGTTTCTTCTCTGGAGTAAACTGGCAAGATGTATATGATAAAAAGCTTGTACCTCCTTTTAAACCTCAAGTAACATCTGAGACAGATACTAGATATTTTGATGAAGAATTTACAGCTCAGACTATTACAATAACACCACCTGAAAAATATGATGAGGATGGTATGGACTGCATGGACAATGAGAGGCGGCCGCATTTCCCTCAATTTTCCTACTCTGCAAGTGGACGAGAATAA chr1|+|[0]243256174-243256240[0]|[1]243270105-243270257[0]|[1]243270978-243271063[2]|[0]243274543-243274656[2]|[0]243286272-243286397[2]|[0]243293091-243293219[2]|[0]243304713-243304777[1]|[2]243307989-243308177[1]|[2]243316755-243316893[2]|[0]243330540-243330692[2]|[0]243341039-243341173[2]|[0]243344215-243344331[2]|[0]243378721-243378863[1]<==>chr1|-|[2]243505249-243505334[1]|[0]243512324-243512426[0]|[2]243545510-243545597[2]|[1]243552729-243552943[0]|[2]243563720-243563848[0]|[2]243572926-243573048[0]|[2]243613671-243613739[0]|[2]243615096-243615161[0]|[2]243637611-243637742[0]|[2]243645893-243646037[2]|[1]243664772-243664883[1] MAKSPENSTLEEILGQYQRSLREHASRSIHQLTCALKEGDVTIGEDAPNLSFSTSVGNEDARTAWPELQQSHAVNQLKDLLRQQADKESEVSPSRRRKMSPLRSLEHEETNMPTMHDLVHTINDQSQYIHHLEAEVKFCKEELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLDASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAASAGEQLELEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNVHMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRMPVNENRTTKAKHIYNQMSPVDYCYRENISCRYSRGKGRMDRSYPGCSRQTAEARRGENEL*SNFTN**YRRGRDGCLYNPS*KKDNE*F*LFETTR*RHFWESYFGSREGKWKILCYEDSEERSHYCKG*SGTHSN*KQSIKEH*TSLFNILEIFLPDKRPFVFCDGIC*WGRAVFPFVERAGVL*GPHTFLWCRNCLCLGLSTFRKDCVP*SQVGESNAGQRWPHKNYRFWTLQRRDHRCSHHEDILWHSRISGTRGVRR**LWPSSRLVGPRGCHV*NDVWEVTFLQPGP*ETF*ININGRH*ISSNTLFRCKIIAFRALDKGSK*TPWWRTR*CKRNYETQFLLWSKLARCI**KACTSF*TSSNI*DRY*IF**RIYSSDYYNNTT*KI**GWYGLHGQ*EAAAFPSIFLLCKWTRI SDCCAG8--AKT3 1 LH00995:25:23T55JLT4:1:2388:10069:24387 NO_LDAS GT 1.7968 chr1:243378863:+ SDCCAG8^ENSG00000054282.16 CCCAP|6-705|0^MTES_1575|155-187|0.15^MTES_1575|346-372|0.22^Aegerolysin|458-512|1.9e-05^MTES_1575|481-523|0.00037^Aegerolysin|561-581|1.5 Pkinase-PARTIAL|~47-77|0.99^PH-PARTIAL|~47-63|9.4e-08^FTA2|101-140|0.00021^Pkinase|108-363|5.2e-81^PK_Tyr_Ser-Thr|109-346|4.8e-40^Kinase-like|110-136|0.19^PH|172-193|1.8^FTA2|211-236|0.0037^Kinase-like|213-343|6.4e-11^Pkinase_C|384-431|1.6e-11 FRAMESHIFT AG 1.8892 chr1:243664883:- AKT3^ENSG00000117020.19 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr1:0.01Mb]"",""NEIGHBORS_OVERLAP:+:-:[11858]""]" False chr1:243378863-chr1:243664883 1.0 0.0 Read count too low: 1 < 8 1 1173_RQT STAR-Fusion
fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 348 348 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(165) high translocation 3'UTR/splice-site intergenic 19112 314 165.0 0.0 0.0 0.0 155 193 duplicates(165) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 19112 314 downstream downstream 0 duplicates(165) CGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCAT AC091167.2 MYC(4688),PVT1(46887) ENSG00000261147 . . 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864,LH00995:25:23T55JLT4:8:2347:17892:16554,LH00995:25:23T55JLT4:8:2354:15813:18950,LH00995:25:23T55JLT4:8:2354:7877:23167,LH00995:25:23T55JLT4:8:2354:7885:23181,LH00995:25:23T55JLT4:8:2356:5320:6829,LH00995:25:23T55JLT4:8:2409:3257:20491,LH00995:25:23T55JLT4:8:2474:24032:4013 . . 3'UTR/splice-site intergenic 155 193 +/+ ./- . 348 ENST00000561573 . translocation 0.008044843514818083 0.3806706114398422 0.19435772747733016 1173_SK8 Arriba
fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 245 245 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(140) high translocation CDS/splice-site intergenic 19112 314 140.0 0.0 0.0 0.0 61 184 duplicates(140) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 19112 314 downstream downstream 0 duplicates(140) TCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCAT AC091167.6 MYC(4688),PVT1(46887) ENSG00000275674 . . 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3T55JLT4:8:2184:1938:23812,LH00995:25:23T55JLT4:8:2201:51829:27581,LH00995:25:23T55JLT4:8:2214:18507:26250,LH00995:25:23T55JLT4:8:2313:38716:27567,LH00995:25:23T55JLT4:8:2354:15813:18950,LH00995:25:23T55JLT4:8:2409:3257:20491 . . CDS/splice-site intergenic 61 184 +/+ ./- . 245 ENST00000622269 . translocation 0.0031815573984248684 0.36947791164658633 0.1863297345225056 1173_SK8 Arriba
fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 252 252 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(101),mismatches(1) high translocation 3'UTR/splice-site intergenic 18064 210 101.0 1.0 0.0 0.0 109 143 duplicates(101),mismatches(1) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 18064 210 downstream downstream 0 duplicates(101),mismatches(1) ACGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATTC AC091167.2 MYC(4688),PVT1(46887) ENSG00000261147 . . 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. . 3'UTR/splice-site intergenic 109 143 +/+ ./- . 252 ENST00000561573 . translocation 0.005997908985858141 0.40509915014164305 0.20554852956375058 1173_SK8 Arriba
fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 183 183 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(85),mismatches(1) high translocation CDS/splice-site intergenic 18064 210 85.0 1.0 0.0 0.0 45 138 duplicates(85),mismatches(1) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 18064 210 downstream downstream 0 duplicates(85),mismatches(1) TCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATTCATCA AC091167.6 MYC(4688),PVT1(46887) ENSG00000275674 . . 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81:33279:17815,LH00995:25:23T55JLT4:7:1383:51619:27441,LH00995:25:23T55JLT4:7:1481:43416:13205,LH00995:25:23T55JLT4:7:2105:20473:10542,LH00995:25:23T55JLT4:7:2132:13313:4111,LH00995:25:23T55JLT4:7:2254:11727:20001,LH00995:25:23T55JLT4:7:2462:24437:11439,LH00995:25:23T55JLT4:7:2478:37365:18137,LH00995:25:23T55JLT4:8:1303:45665:17016,LH00995:25:23T55JLT4:8:1391:15133:10010,LH00995:25:23T55JLT4:8:1391:15141:9996,LH00995:25:23T55JLT4:8:1491:46903:5064,LH00995:25:23T55JLT4:8:2104:11938:19776,LH00995:25:23T55JLT4:8:2124:25480:7810,LH00995:25:23T55JLT4:8:2170:46636:19286,LH00995:25:23T55JLT4:8:2390:29671:18684,LH00995:25:23T55JLT4:8:2417:40932:1981 . . CDS/splice-site intergenic 45 138 +/+ ./- . 183 ENST00000622269 . translocation 0.0024849522336959523 0.39655172413793105 0.1995183381858135 1173_SK8 Arriba
fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 252 252 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(101),mismatches(1) high translocation 3'UTR/splice-site intergenic 18064 210 101.0 1.0 0.0 0.0 109 143 duplicates(101),mismatches(1) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 18064 210 downstream downstream 0 duplicates(101),mismatches(1) ACGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATTC AC091167.2 MYC(4688),PVT1(46887) ENSG00000261147 . . 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. . 3'UTR/splice-site intergenic 109 143 +/+ ./- . 252 ENST00000561573 . translocation 0.005997908985858141 0.40509915014164305 0.20554852956375058 1173_SK8 Arriba
fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 183 183 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(85),mismatches(1) high translocation CDS/splice-site intergenic 18064 210 85.0 1.0 0.0 0.0 45 138 duplicates(85),mismatches(1) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 18064 210 downstream downstream 0 duplicates(85),mismatches(1) TCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATTCATCA AC091167.6 MYC(4688),PVT1(46887) ENSG00000275674 . . 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81:33279:17815,LH00995:25:23T55JLT4:7:1383:51619:27441,LH00995:25:23T55JLT4:7:1481:43416:13205,LH00995:25:23T55JLT4:7:2105:20473:10542,LH00995:25:23T55JLT4:7:2132:13313:4111,LH00995:25:23T55JLT4:7:2254:11727:20001,LH00995:25:23T55JLT4:7:2462:24437:11439,LH00995:25:23T55JLT4:7:2478:37365:18137,LH00995:25:23T55JLT4:8:1303:45665:17016,LH00995:25:23T55JLT4:8:1391:15133:10010,LH00995:25:23T55JLT4:8:1391:15141:9996,LH00995:25:23T55JLT4:8:1491:46903:5064,LH00995:25:23T55JLT4:8:2104:11938:19776,LH00995:25:23T55JLT4:8:2124:25480:7810,LH00995:25:23T55JLT4:8:2170:46636:19286,LH00995:25:23T55JLT4:8:2390:29671:18684,LH00995:25:23T55JLT4:8:2417:40932:1981 . . CDS/splice-site intergenic 45 138 +/+ ./- . 183 ENST00000622269 . translocation 0.0024849522336959523 0.39655172413793105 0.1995183381858135 1173_SK8 Arriba
fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 348 348 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(165) high translocation 3'UTR/splice-site intergenic 19112 314 165.0 0.0 0.0 0.0 155 193 duplicates(165) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 19112 314 downstream downstream 0 duplicates(165) CGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCAT AC091167.2 MYC(4688),PVT1(46887) ENSG00000261147 . . 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864,LH00995:25:23T55JLT4:8:2347:17892:16554,LH00995:25:23T55JLT4:8:2354:15813:18950,LH00995:25:23T55JLT4:8:2354:7877:23167,LH00995:25:23T55JLT4:8:2354:7885:23181,LH00995:25:23T55JLT4:8:2356:5320:6829,LH00995:25:23T55JLT4:8:2409:3257:20491,LH00995:25:23T55JLT4:8:2474:24032:4013 . . 3'UTR/splice-site intergenic 155 193 +/+ ./- . 348 ENST00000561573 . translocation 0.008044843514818083 0.3806706114398422 0.19435772747733016 1173_SK8 Arriba
fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 245 245 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(140) high translocation CDS/splice-site intergenic 19112 314 140.0 0.0 0.0 0.0 61 184 duplicates(140) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 19112 314 downstream downstream 0 duplicates(140) TCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCAT AC091167.6 MYC(4688),PVT1(46887) ENSG00000275674 . . 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3T55JLT4:8:2184:1938:23812,LH00995:25:23T55JLT4:8:2201:51829:27581,LH00995:25:23T55JLT4:8:2214:18507:26250,LH00995:25:23T55JLT4:8:2313:38716:27567,LH00995:25:23T55JLT4:8:2354:15813:18950,LH00995:25:23T55JLT4:8:2409:3257:20491 . . CDS/splice-site intergenic 61 184 +/+ ./- . 245 ENST00000622269 . translocation 0.0031815573984248684 0.36947791164658633 0.1863297345225056 1173_SK8 Arriba
fp_audit 1173_SK8 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 634 509 0 1 False FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . low 634 509 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 GQYQRSLR|g* LH00995:25:23T55JLT4:6:2288:46247:20127 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.00196078431372549 0.000980392156862745 1173_SK8 Arriba
fp_audit 1173_SK8 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243664772 243304713 chr1:243664772-chr1:243304713 -,+ Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 4984 326 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr1:243664772 chr1:243304713 chr1:243664772-chr1:243304713 . . low 4984 326 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) CGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACTACTGTTATAGAGAGAACATTTCATGTAGATACTCCAGAGGAAAG|GAGAAGCTAAAACTTACTTATGAG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 RPKPNTFIIRCLQWTTVIERTFHVDTPEEr|rs* LH00995:25:23T55JLT4:1:1394:24089:24204,LH00995:25:23T55JLT4:6:1352:4009:5932 out-of-frame PH_domain(89%)|Centrosomal_colon_cancer_autoantigen_protein_family(68%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000366541 inversion 0.00020060180541624874 0.0 0.00010030090270812437 1173_SK8 Arriba
fp_audit 1173_SK8 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 634 509 0 1 False FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . low 634 509 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 GQYQRSLR|g* LH00995:25:23T55JLT4:6:2288:46247:20127 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.00196078431372549 0.000980392156862745 1173_SK8 Arriba
fp_audit 1173_SK8 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr1 AKT3 SDCCAG8 243664772 243304713 chr1:243664772-chr1:243304713 -,+ Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 4984 326 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr1:243664772 chr1:243304713 chr1:243664772-chr1:243304713 . . low 4984 326 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) CGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACTACTGTTATAGAGAGAACATTTCATGTAGATACTCCAGAGGAAAG|GAGAAGCTAAAACTTACTTATGAG AKT3 SDCCAG8 ENSG00000117020 ENSG00000054282 RPKPNTFIIRCLQWTTVIERTFHVDTPEEr|rs* LH00995:25:23T55JLT4:1:1394:24089:24204,LH00995:25:23T55JLT4:6:1352:4009:5932 out-of-frame PH_domain(89%)|Centrosomal_colon_cancer_autoantigen_protein_family(68%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000336199 ENST00000366541 inversion 0.00020060180541624874 0.0 0.00010030090270812437 1173_SK8 Arriba
fp_audit 1173_SK8 fusion BMS1--MYC BMS1--MYC BMS1--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr10 chr8 BMS1 MYC 42843009 127738248 chr10:42843009-chr8:127738248 +,+ Arriba 1 0 19 19 PASS BMS1--MYC BMS1--MYC confidence:medium;duplicates(7),mismatches(3),multimappers(5) medium translocation intergenic CDS/splice-site 27 65535 7.0 3.0 0.0 5.0 8 11 duplicates(7),mismatches(3),multimappers(5) FAIL False chr10:42843009 chr8:127738248 chr10:42843009-chr8:127738248 . . medium 27 65535 downstream upstream 0 confidence_below_min(medium<high) duplicates(7),mismatches(3),multimappers(5) TGCTTACTGCAACCTCCATCTCCTAGGCTCcAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCTACTACATCTGTCCAAAAGCTGCATTTCCAAGACCAG|CAGCCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCGACTACGACTCGGTGCAGCCGTATTTCTACTGCGACGAGGAGGAGAACTTCTACC BMS1(8072),LINC02623(28512) MYC . ENSG00000136997 . LH00995:25:23T55JLT4:1:1173:38651:21150,LH00995:25:23T55JLT4:1:1461:38343:13191,LH00995:25:23T55JLT4:1:2253:40293:19482,LH00995:25:23T55JLT4:2:1133:46911:7628,LH00995:25:23T55JLT4:2:1263:4980:4223,LH00995:25:23T55JLT4:3:1203:44047:12308,LH00995:25:23T55JLT4:3:2337:11938:10668,LH00995:25:23T55JLT4:3:2436:50762:13205,LH00995:25:23T55JLT4:4:1431:49702:20141,LH00995:25:23T55JLT4:4:1432:12067:26951,LH00995:25:23T55JLT4:5:1371:16144:15769,LH00995:25:23T55JLT4:5:1410:37623:20603,LH00995:25:23T55JLT4:5:1410:44726:9758,LH00995:25:23T55JLT4:5:2181:13119:4895,LH00995:25:23T55JLT4:6:2278:14025:24569,LH00995:25:23T55JLT4:6:2492:24874:14970,LH00995:25:23T55JLT4:8:1358:47000:5036,LH00995:25:23T55JLT4:1:1202:10206:22439,LH00995:25:23T55JLT4:1:1427:8111:15727,LH00995:25:23T55JLT4:1:2259:52048:20869,LH00995:25:23T55JLT4:2:1407:2521:16077,LH00995:25:23T55JLT4:2:2234:33845:17675,LH00995:25:23T55JLT4:2:2464:21694:17086,LH00995:25:23T55JLT4:3:2139:5563:25830,LH00995:25:23T55JLT4:3:2293:39161:9702,LH00995:25:23T55JLT4:4:1138:43570:25998,LH00995:25:23T55JLT4:4:1207:49605:12098,LH00995:25:23T55JLT4:4:1222:25440:6787,LH00995:25:23T55JLT4:4:1428:36491:2892,LH00995:25:23T55JLT4:5:1162:47793:27175,LH00995:25:23T55JLT4:8:1122:48221:21528,LH00995:25:23T55JLT4:8:1139:42971:27735,LH00995:25:23T55JLT4:8:2229:18911:22831,LH00995:25:23T55JLT4:8:2449:26079:13135 . |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) intergenic CDS/splice-site 8 11 ./+ +/+ . 19 . ENST00000621592 translocation 0.22857142857142856 0.0001678210722240869 0.11436962482182633 1173_SK8 Arriba
fp_audit 1173_SK8 fusion BMS1--MYC BMS1--MYC BMS1--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr10 chr8 BMS1 MYC 42843009 127738248 chr10:42843009-chr8:127738248 +,+ Arriba 1 0 14 14 PASS BMS1--MYC BMS1--MYC confidence:medium;duplicates(12),mismatches(2),multimappers(8) medium translocation intergenic CDS/splice-site 26 65535 12.0 2.0 0.0 8.0 4 10 duplicates(12),mismatches(2),multimappers(8) FAIL False chr10:42843009 chr8:127738248 chr10:42843009-chr8:127738248 . . medium 26 65535 downstream upstream 0 confidence_below_min(medium<high) duplicates(12),mismatches(2),multimappers(8) TGCTTACTGCAACCTCCATCTCCTAGGCTCcAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCTACTACATCTGTCCAAAAGCTGCATTTCCAAGACCAG|CAGCCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCGACTACGACTCGGTGCAGCCGTATTTCTACTGCGACGAGGAGGAGAACTTCTACCAGCAGCAGCAGCAGAG BMS1(8072),LINC02623(28512) MYC . ENSG00000136997 . LH00995:25:23T55JLT4:1:1464:32672:12000,LH00995:25:23T55JLT4:1:2135:14551:28058,LH00995:25:23T55JLT4:1:2195:16088:20043,LH00995:25:23T55JLT4:2:1155:39970:14466,LH00995:25:23T55JLT4:2:1474:36289:21934,LH00995:25:23T55JLT4:2:2188:3977:18543,LH00995:25:23T55JLT4:2:2262:34468:2499,LH00995:25:23T55JLT4:3:1172:40568:24443,LH00995:25:23T55JLT4:3:1183:2901:2920,LH00995:25:23T55JLT4:3:2220:12957:26755,LH00995:25:23T55JLT4:3:2402:34145:16371,LH00995:25:23T55JLT4:4:1146:52137:6479,LH00995:25:23T55JLT4:4:1353:4212:29655,LH00995:25:23T55JLT4:4:2249:23159:6423,LH00995:25:23T55JLT4:4:2321:35334:16918,LH00995:25:23T55JLT4:6:1477:44524:18627,LH00995:25:23T55JLT4:6:2224:5773:10304,LH00995:25:23T55JLT4:6:2278:37421:8398,LH00995:25:23T55JLT4:8:2105:33748:28744,LH00995:25:23T55JLT4:1:2138:49160:19510,LH00995:25:23T55JLT4:1:2260:3273:29263,LH00995:25:23T55JLT4:1:2407:16598:3186,LH00995:25:23T55JLT4:3:1379:1623:10991,LH00995:25:23T55JLT4:5:1439:20287:17675,LH00995:25:23T55JLT4:7:1143:6550:24793,LH00995:25:23T55JLT4:7:1336:7286:27301,LH00995:25:23T55JLT4:8:1337:17973:7894,LH00995:25:23T55JLT4:8:1338:1793:23868,LH00995:25:23T55JLT4:8:2250:9106:24373,LH00995:25:23T55JLT4:8:2307:27058:3368,LH00995:25:23T55JLT4:8:2479:3014:1603,LH00995:25:23T55JLT4:8:2479:3023:1589,LH00995:25:23T55JLT4:4:1261:21015:3662,LH00995:25:23T55JLT4:4:1261:21031:3662,LH00995:25:23T55JLT4:4:1261:21039:3676,LH00995:25:23T55JLT4:7:2405:6048:16273 . |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) intergenic CDS/splice-site 4 10 ./+ +/+ . 14 . ENST00000621592 translocation 0.13333333333333333 0.0001525669387443741 0.06674295013603886 1173_SK8 Arriba
fp_audit 1173_SK8 fusion BMS1--MYC BMS1--MYC BMS1--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr10 chr8 BMS1 MYC 42843009 127738248 chr10:42843009-chr8:127738248 +,+ Arriba 1 0 14 14 PASS BMS1--MYC BMS1--MYC confidence:medium;duplicates(12),mismatches(2),multimappers(8) medium translocation intergenic CDS/splice-site 26 65535 12.0 2.0 0.0 8.0 4 10 duplicates(12),mismatches(2),multimappers(8) FAIL False chr10:42843009 chr8:127738248 chr10:42843009-chr8:127738248 . . medium 26 65535 downstream upstream 0 confidence_below_min(medium<high) duplicates(12),mismatches(2),multimappers(8) TGCTTACTGCAACCTCCATCTCCTAGGCTCcAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCTACTACATCTGTCCAAAAGCTGCATTTCCAAGACCAG|CAGCCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCGACTACGACTCGGTGCAGCCGTATTTCTACTGCGACGAGGAGGAGAACTTCTACCAGCAGCAGCAGCAGAG BMS1(8072),LINC02623(28512) MYC . ENSG00000136997 . LH00995:25:23T55JLT4:1:1464:32672:12000,LH00995:25:23T55JLT4:1:2135:14551:28058,LH00995:25:23T55JLT4:1:2195:16088:20043,LH00995:25:23T55JLT4:2:1155:39970:14466,LH00995:25:23T55JLT4:2:1474:36289:21934,LH00995:25:23T55JLT4:2:2188:3977:18543,LH00995:25:23T55JLT4:2:2262:34468:2499,LH00995:25:23T55JLT4:3:1172:40568:24443,LH00995:25:23T55JLT4:3:1183:2901:2920,LH00995:25:23T55JLT4:3:2220:12957:26755,LH00995:25:23T55JLT4:3:2402:34145:16371,LH00995:25:23T55JLT4:4:1146:52137:6479,LH00995:25:23T55JLT4:4:1353:4212:29655,LH00995:25:23T55JLT4:4:2249:23159:6423,LH00995:25:23T55JLT4:4:2321:35334:16918,LH00995:25:23T55JLT4:6:1477:44524:18627,LH00995:25:23T55JLT4:6:2224:5773:10304,LH00995:25:23T55JLT4:6:2278:37421:8398,LH00995:25:23T55JLT4:8:2105:33748:28744,LH00995:25:23T55JLT4:1:2138:49160:19510,LH00995:25:23T55JLT4:1:2260:3273:29263,LH00995:25:23T55JLT4:1:2407:16598:3186,LH00995:25:23T55JLT4:3:1379:1623:10991,LH00995:25:23T55JLT4:5:1439:20287:17675,LH00995:25:23T55JLT4:7:1143:6550:24793,LH00995:25:23T55JLT4:7:1336:7286:27301,LH00995:25:23T55JLT4:8:1337:17973:7894,LH00995:25:23T55JLT4:8:1338:1793:23868,LH00995:25:23T55JLT4:8:2250:9106:24373,LH00995:25:23T55JLT4:8:2307:27058:3368,LH00995:25:23T55JLT4:8:2479:3014:1603,LH00995:25:23T55JLT4:8:2479:3023:1589,LH00995:25:23T55JLT4:4:1261:21015:3662,LH00995:25:23T55JLT4:4:1261:21031:3662,LH00995:25:23T55JLT4:4:1261:21039:3676,LH00995:25:23T55JLT4:7:2405:6048:16273 . |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) intergenic CDS/splice-site 4 10 ./+ +/+ . 14 . ENST00000621592 translocation 0.13333333333333333 0.0001525669387443741 0.06674295013603886 1173_SK8 Arriba
fp_audit 1173_SK8 fusion BMS1--MYC BMS1--MYC BMS1--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr10 chr8 BMS1 MYC 42843009 127738248 chr10:42843009-chr8:127738248 +,+ Arriba 1 0 19 19 PASS BMS1--MYC BMS1--MYC confidence:medium;duplicates(7),mismatches(3),multimappers(5) medium translocation intergenic CDS/splice-site 27 65535 7.0 3.0 0.0 5.0 8 11 duplicates(7),mismatches(3),multimappers(5) FAIL False chr10:42843009 chr8:127738248 chr10:42843009-chr8:127738248 . . medium 27 65535 downstream upstream 0 confidence_below_min(medium<high) duplicates(7),mismatches(3),multimappers(5) TGCTTACTGCAACCTCCATCTCCTAGGCTCcAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCTACTACATCTGTCCAAAAGCTGCATTTCCAAGACCAG|CAGCCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCGACTACGACTCGGTGCAGCCGTATTTCTACTGCGACGAGGAGGAGAACTTCTACC BMS1(8072),LINC02623(28512) MYC . ENSG00000136997 . LH00995:25:23T55JLT4:1:1173:38651:21150,LH00995:25:23T55JLT4:1:1461:38343:13191,LH00995:25:23T55JLT4:1:2253:40293:19482,LH00995:25:23T55JLT4:2:1133:46911:7628,LH00995:25:23T55JLT4:2:1263:4980:4223,LH00995:25:23T55JLT4:3:1203:44047:12308,LH00995:25:23T55JLT4:3:2337:11938:10668,LH00995:25:23T55JLT4:3:2436:50762:13205,LH00995:25:23T55JLT4:4:1431:49702:20141,LH00995:25:23T55JLT4:4:1432:12067:26951,LH00995:25:23T55JLT4:5:1371:16144:15769,LH00995:25:23T55JLT4:5:1410:37623:20603,LH00995:25:23T55JLT4:5:1410:44726:9758,LH00995:25:23T55JLT4:5:2181:13119:4895,LH00995:25:23T55JLT4:6:2278:14025:24569,LH00995:25:23T55JLT4:6:2492:24874:14970,LH00995:25:23T55JLT4:8:1358:47000:5036,LH00995:25:23T55JLT4:1:1202:10206:22439,LH00995:25:23T55JLT4:1:1427:8111:15727,LH00995:25:23T55JLT4:1:2259:52048:20869,LH00995:25:23T55JLT4:2:1407:2521:16077,LH00995:25:23T55JLT4:2:2234:33845:17675,LH00995:25:23T55JLT4:2:2464:21694:17086,LH00995:25:23T55JLT4:3:2139:5563:25830,LH00995:25:23T55JLT4:3:2293:39161:9702,LH00995:25:23T55JLT4:4:1138:43570:25998,LH00995:25:23T55JLT4:4:1207:49605:12098,LH00995:25:23T55JLT4:4:1222:25440:6787,LH00995:25:23T55JLT4:4:1428:36491:2892,LH00995:25:23T55JLT4:5:1162:47793:27175,LH00995:25:23T55JLT4:8:1122:48221:21528,LH00995:25:23T55JLT4:8:1139:42971:27735,LH00995:25:23T55JLT4:8:2229:18911:22831,LH00995:25:23T55JLT4:8:2449:26079:13135 . |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) intergenic CDS/splice-site 8 11 ./+ +/+ . 19 . ENST00000621592 translocation 0.22857142857142856 0.0001678210722240869 0.11436962482182633 1173_SK8 Arriba
fp_audit 1173_SK8 fusion BMS1P8--NTRK3 NTRK3--BMS1P8 BMS1P8--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr16 NTRK3 BMS1P8 88126271 33702131 chr15:88126271-chr16:33702131 -,- Arriba 1 0 3 3 PASS out-of-frame NTRK3--BMS1P8 BMS1P8--NTRK3 confidence:medium;duplicates(6) medium translocation CDS/splice-site exon/splice-site 1793 48 6.0 0.0 0.0 0.0 3 0 False duplicates(6) FAIL False chr15:88126271 chr16:33702131 chr15:88126271-chr16:33702131 . . medium 1793 48 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(6) CTGTGACCCACAAACCAGAAGAAGACACTTTTGGG___GTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGG|AGGAGCTCTATGGTGACTTTGAAGACTTGGAAACAGGGGACGTGCACAAGGGAAAATCGGGC NTRK3 BMS1P8 ENSG00000140538 ENSG00000260518 VTHKPEEDTFGVSIAVGLAAFACVLLVVLFVMINKYGRRSKFGMK|eelygdfedletgdvhkgks LH00995:25:23T55JLT4:1:1387:35520:24779,LH00995:25:23T55JLT4:1:2303:1696:16582,LH00995:25:23T55JLT4:3:1469:8653:1785,LH00995:25:23T55JLT4:3:1469:8669:1785,LH00995:25:23T55JLT4:3:2212:20821:1813,LH00995:25:23T55JLT4:5:1404:50754:12910,LH00995:25:23T55JLT4:5:1440:51441:6143,LH00995:25:23T55JLT4:6:2204:29088:11761,LH00995:25:23T55JLT4:8:1177:40439:17520 out-of-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Leucine_rich_repeat_N-terminal_domain(100%)| CDS/splice-site exon/splice-site 3 0 -/- -/- . 3 ENST00000394480 ENST00000648463 translocation 0.0016703786191536749 0.0 0.0008351893095768374 1173_SK8 Arriba
fp_audit 1173_SK8 fusion BMS1P8--NTRK3 NTRK3--BMS1P8 BMS1P8--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr16 NTRK3 BMS1P8 88126271 33702131 chr15:88126271-chr16:33702131 -,- Arriba 1 0 3 3 PASS out-of-frame NTRK3--BMS1P8 BMS1P8--NTRK3 confidence:medium;duplicates(6),mismatches(1) medium translocation CDS/splice-site exon/splice-site 1506 24 6.0 1.0 0.0 0.0 2 1 False duplicates(6),mismatches(1) FAIL False chr15:88126271 chr16:33702131 chr15:88126271-chr16:33702131 . . medium 1506 24 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(6),mismatches(1) GACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGG___GTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGG|AGGAGCTCTATGGTGACTTTGAAGACTTGGAAACAGGGGACGTGCACAAGGGAAAATCGGGCCCCGATACTCAG NTRK3 BMS1P8 ENSG00000140538 ENSG00000260518 DEVSPTPPITVTHKPEEDTFGVSIAVGLAAFACVLLVVLFVMINKYGRRSKFGMK|eelygdfedletgdvhkgksgpdt LH00995:25:23T55JLT4:1:2136:11897:20631,LH00995:25:23T55JLT4:1:2246:46959:28478,LH00995:25:23T55JLT4:3:1455:10943:24218,LH00995:25:23T55JLT4:4:1265:3192:10402,LH00995:25:23T55JLT4:4:1414:48577:2275,LH00995:25:23T55JLT4:4:2381:44217:8455,LH00995:25:23T55JLT4:7:2155:42728:8707,LH00995:25:23T55JLT4:8:1334:47882:21248,LH00995:25:23T55JLT4:8:1401:32147:14760,LH00995:25:23T55JLT4:1:2409:41555:1799 out-of-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Leucine_rich_repeat_N-terminal_domain(100%)| CDS/splice-site exon/splice-site 2 1 -/- -/- . 3 ENST00000394480 ENST00000648463 translocation 0.001326259946949602 0.04 0.020663129973474803 1173_SK8 Arriba
fp_audit 1173_SK8 fusion BMS1P8--NTRK3 NTRK3--BMS1P8 BMS1P8--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr16 NTRK3 BMS1P8 88126271 33702131 chr15:88126271-chr16:33702131 -,- Arriba 1 0 3 3 PASS out-of-frame NTRK3--BMS1P8 BMS1P8--NTRK3 confidence:medium;duplicates(6),mismatches(1) medium translocation CDS/splice-site exon/splice-site 1506 24 6.0 1.0 0.0 0.0 2 1 False duplicates(6),mismatches(1) FAIL False chr15:88126271 chr16:33702131 chr15:88126271-chr16:33702131 . . medium 1506 24 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(6),mismatches(1) GACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGG___GTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGG|AGGAGCTCTATGGTGACTTTGAAGACTTGGAAACAGGGGACGTGCACAAGGGAAAATCGGGCCCCGATACTCAG NTRK3 BMS1P8 ENSG00000140538 ENSG00000260518 DEVSPTPPITVTHKPEEDTFGVSIAVGLAAFACVLLVVLFVMINKYGRRSKFGMK|eelygdfedletgdvhkgksgpdt LH00995:25:23T55JLT4:1:2136:11897:20631,LH00995:25:23T55JLT4:1:2246:46959:28478,LH00995:25:23T55JLT4:3:1455:10943:24218,LH00995:25:23T55JLT4:4:1265:3192:10402,LH00995:25:23T55JLT4:4:1414:48577:2275,LH00995:25:23T55JLT4:4:2381:44217:8455,LH00995:25:23T55JLT4:7:2155:42728:8707,LH00995:25:23T55JLT4:8:1334:47882:21248,LH00995:25:23T55JLT4:8:1401:32147:14760,LH00995:25:23T55JLT4:1:2409:41555:1799 out-of-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Leucine_rich_repeat_N-terminal_domain(100%)| CDS/splice-site exon/splice-site 2 1 -/- -/- . 3 ENST00000394480 ENST00000648463 translocation 0.001326259946949602 0.04 0.020663129973474803 1173_SK8 Arriba
fp_audit 1173_SK8 fusion BMS1P8--NTRK3 NTRK3--BMS1P8 BMS1P8--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr16 NTRK3 BMS1P8 88126271 33702131 chr15:88126271-chr16:33702131 -,- Arriba 1 0 3 3 PASS out-of-frame NTRK3--BMS1P8 BMS1P8--NTRK3 confidence:medium;duplicates(6) medium translocation CDS/splice-site exon/splice-site 1793 48 6.0 0.0 0.0 0.0 3 0 False duplicates(6) FAIL False chr15:88126271 chr16:33702131 chr15:88126271-chr16:33702131 . . medium 1793 48 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(6) CTGTGACCCACAAACCAGAAGAAGACACTTTTGGG___GTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGG|AGGAGCTCTATGGTGACTTTGAAGACTTGGAAACAGGGGACGTGCACAAGGGAAAATCGGGC NTRK3 BMS1P8 ENSG00000140538 ENSG00000260518 VTHKPEEDTFGVSIAVGLAAFACVLLVVLFVMINKYGRRSKFGMK|eelygdfedletgdvhkgks LH00995:25:23T55JLT4:1:1387:35520:24779,LH00995:25:23T55JLT4:1:2303:1696:16582,LH00995:25:23T55JLT4:3:1469:8653:1785,LH00995:25:23T55JLT4:3:1469:8669:1785,LH00995:25:23T55JLT4:3:2212:20821:1813,LH00995:25:23T55JLT4:5:1404:50754:12910,LH00995:25:23T55JLT4:5:1440:51441:6143,LH00995:25:23T55JLT4:6:2204:29088:11761,LH00995:25:23T55JLT4:8:1177:40439:17520 out-of-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Leucine_rich_repeat_N-terminal_domain(100%)| CDS/splice-site exon/splice-site 3 0 -/- -/- . 3 ENST00000394480 ENST00000648463 translocation 0.0016703786191536749 0.0 0.0008351893095768374 1173_SK8 Arriba
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 CRTC3 NTRK3 90540137 88184299 chr15:90540137-chr15:88184299 +,- Arriba 1 0 25 25 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 confidence:medium;duplicates(14) medium inversion CDS/splice-site CDS/splice-site 4297 3918 14.0 0.0 0.0 0.0 11 14 False duplicates(14) FAIL False chr15:90540137 chr15:88184299 chr15:90540137-chr15:88184299 . . medium 4297 3918 downstream downstream 0 confidence_below_min(medium<high) duplicates(14) GTTCAATTTCAGAAGCTTCAGCAACTGCGCCTTACACAGTACCATGGAGGATCCTTACCAAATGTGAGCCAGCTGCGGAGCAaTGCGTCAGAGTTTCAG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCC CRTC3 NTRK3 ENSG00000140577 ENSG00000140538 VQFQKLQQLRLTQYHGGSLPNVSQLRSnASEFQ|threlaqsshaqrrghgalhrtskadhqelrtsehsaqslcqep LH00995:25:23T55JLT4:1:1143:17496:25283,LH00995:25:23T55JLT4:1:2406:1316:25592,LH00995:25:23T55JLT4:2:1135:9454:18922,LH00995:25:23T55JLT4:2:1446:14607:8090,LH00995:25:23T55JLT4:2:2126:43238:22145,LH00995:25:23T55JLT4:2:2259:21670:22789,LH00995:25:23T55JLT4:2:2403:13564:18669,LH00995:25:23T55JLT4:3:2216:1356:15012,LH00995:25:23T55JLT4:3:2366:26273:26110,LH00995:25:23T55JLT4:3:2384:29550:25115,LH00995:25:23T55JLT4:3:2395:10562:16442,LH00995:25:23T55JLT4:4:1215:25537:18782,LH00995:25:23T55JLT4:4:1298:27543:21444,LH00995:25:23T55JLT4:5:1101:50915:23392,LH00995:25:23T55JLT4:5:2191:21516:4419,LH00995:25:23T55JLT4:5:2237:13580:8132,LH00995:25:23T55JLT4:5:2365:39670:1392,LH00995:25:23T55JLT4:5:2409:32616:5568,LH00995:25:23T55JLT4:6:1145:51029:27735,LH00995:25:23T55JLT4:6:1398:33611:3452,LH00995:25:23T55JLT4:6:2326:11355:21766,LH00995:25:23T55JLT4:8:1171:2327:21542,LH00995:25:23T55JLT4:8:1460:41620:25732,LH00995:25:23T55JLT4:8:2275:18693:20435,LH00995:25:23T55JLT4:8:2487:7618:9127,LH00995:25:23T55JLT4:1:1407:2610:27077,LH00995:25:23T55JLT4:1:2487:10198:10767,LH00995:25:23T55JLT4:2:2117:42372:26811,LH00995:25:23T55JLT4:2:2178:29525:10192,LH00995:25:23T55JLT4:2:2238:35900:6297,LH00995:25:23T55JLT4:3:2167:46328:20603,LH00995:25:23T55JLT4:3:2302:49273:25507,LH00995:25:23T55JLT4:3:2376:15522:7824,LH00995:25:23T55JLT4:4:1212:31200:10795,LH00995:25:23T55JLT4:4:1428:27252:9814,LH00995:25:23T55JLT4:6:1451:5814:4461,LH00995:25:23T55JLT4:8:1330:12148:2233,LH00995:25:23T55JLT4:8:2229:43537:4923,LH00995:25:23T55JLT4:8:2291:23450:2331 out-of-frame Transducer_of_regulated_CREB_activity__N_terminus(90%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 11 14 +/+ -/- . 25 ENST00000268184 ENST00000394480 inversion 0.00255338904363974 0.003560528992878942 0.003056959018259341 1173_SK8 Arriba
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 CRTC3 NTRK3 90540137 88147403 chr15:90540137-chr15:88147403 +,- Arriba 1 0 1 1 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 4297 1549 0 1 False FAIL False chr15:90540137 chr15:88147403 chr15:90540137-chr15:88147403 . . low 4297 1549 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CTTCAGCAACTGCGCCTTACACAGTACCATGGAGGATCCTTACCAAATGTGAGCCAGCTGCGGAGCAaTGCGTCAGAGTTTCAG|AAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGTAAGTTTGGTTTTGAAGACTGTCCAGGTACTGAAGTGCTGGTAATGGGTGGATGGGGAGGAGTGTCAAGCAGTGGAACCACCTGAAGGCTGAGC CRTC3 NTRK3 ENSG00000140577 ENSG00000140538 LQQLRLTQYHGGSLPNVSQLRSnASEFQ|kpvk* LH00995:25:23T55JLT4:2:2178:4082:22341 out-of-frame Transducer_of_regulated_CREB_activity__N_terminus(90%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(49%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000268184 ENST00000394480 inversion 0.0 0.0006451612903225806 0.0003225806451612903 1173_SK8 Arriba
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 CRTC3 NTRK3 90530203 88184299 chr15:90530203-chr15:88184299 +,- Arriba 1 0 1 1 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 confidence:low;duplicates(3) low inversion CDS/splice-site CDS/splice-site 3764 3918 3.0 0.0 0.0 0.0 0 1 False duplicates(3) FAIL False chr15:90530203 chr15:88184299 chr15:90530203-chr15:88184299 . . low 3764 3918 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(3) CGAGGAGACGCGGGCCTTCGAGCAGCTCATGACCGACCTCACCCTGTCGCGG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTG CRTC3 NTRK3 ENSG00000140577 ENSG00000140538 EETRAFEQLMTDLTLSR|threlaqsshaqrrghgalhrtska LH00995:25:23T55JLT4:3:2419:23968:12560,LH00995:25:23T55JLT4:5:2282:26629:28744,LH00995:25:23T55JLT4:6:1351:13402:3424,LH00995:25:23T55JLT4:6:2228:1777:13023 out-of-frame Transducer_of_regulated_CREB_activity__N_terminus(45%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000268184 ENST00000394480 inversion 0.0 0.00025516713447307985 0.00012758356723653993 1173_SK8 Arriba
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 CRTC3 NTRK3 90540137 88184299 chr15:90540137-chr15:88184299 +,- Arriba 1 0 11 11 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 confidence:medium;duplicates(7) medium inversion CDS/splice-site CDS/splice-site 3339 1846 7.0 0.0 0.0 0.0 8 3 False duplicates(7) FAIL False chr15:90540137 chr15:88184299 chr15:90540137-chr15:88184299 . . medium 3339 1846 downstream downstream 0 confidence_below_min(medium<high) duplicates(7) CGCAGAGACAGGCCGAGGAGACGCGGGCCTTCGAGCAGCTCATGACCGACCTCACCCTGTCGCGG___GTTCAATTTCAGAAGCTTCAGCAACTGCGCCTTACACAGTACCATGGAGGATCCTTACCAAATGTGAGCCAGCTGCGGAGCAaTGCGTCAGAGTTTCAG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGA CRTC3 NTRK3 ENSG00000140577 ENSG00000140538 QRQAEETRAFEQLMTDLTLSRVQFQKLQQLRLTQYHGGSLPNVSQLRSnASEFQ|threlaqsshaqrrghgalhrtskadhqelrts LH00995:25:23T55JLT4:1:2209:51417:14620,LH00995:25:23T55JLT4:2:1106:2230:3522,LH00995:25:23T55JLT4:2:1211:24145:9421,LH00995:25:23T55JLT4:2:2372:47388:2261,LH00995:25:23T55JLT4:1:2257:42202:23350,LH00995:25:23T55JLT4:2:1368:33239:29067,LH00995:25:23T55JLT4:2:1368:33255:29067,LH00995:25:23T55JLT4:2:2267:45188:3494,LH00995:25:23T55JLT4:3:2485:45972:7656,LH00995:25:23T55JLT4:4:2119:50527:15180,LH00995:25:23T55JLT4:4:2452:29088:19889,LH00995:25:23T55JLT4:5:1197:9163:4881,LH00995:25:23T55JLT4:5:2314:32292:8202,LH00995:25:23T55JLT4:5:2333:1817:8413,LH00995:25:23T55JLT4:6:2408:12180:5988,LH00995:25:23T55JLT4:7:1453:21257:15601,LH00995:25:23T55JLT4:7:2271:46094:28520,LH00995:25:23T55JLT4:8:1380:33870:9814 out-of-frame Transducer_of_regulated_CREB_activity__N_terminus(90%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 8 3 +/+ -/- . 11 ENST00000268184 ENST00000394480 inversion 0.0023902001792650133 0.0016224986479177934 0.0020063494135914035 1173_SK8 Arriba
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 CRTC3 NTRK3 90540137 88184299 chr15:90540137-chr15:88184299 +,- STAR-Fusion 1 0 27 0.0915 27 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 "[""INTRACHROMOSOMAL[chr15:2.27Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.8295 False False False GT AG 27 False 1 ENST00000268184.11 1-231 ENST00000626019.2 249-2595 0.0915 PASS atggccgcctcgccgggctcgggcagcgccaacccgcggaagttcagtgagaagatcgcgctgcacacgcagagacaggccgaggagacgcgggccttcgagcagctcatgaccgacctcaccctgtcgcgggttcaatttcagaagcttcagcaactgcgccttacacagtaccatggaggatccttaccaaatgtgagccagctgcggagcagtgcgtcagagtttcagACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG chr15|+|[0]90530072-90530203[2]|[0]90540039-90540137[2]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] MAASPGSGSANPRKFSEKIALHTQRQAEETRAFEQLMTDLTLSRVQFQKLQQLRLTQYHGGSLPNVSQLRSSASEFQTHRELAQSSHAQRRGHGALHRTSKADHQELRTSEHSAQSLCQEPPFALYKPVK*PAHHTLVAALPDAESSGIAVGAELFQLQL*HPLDAALAGAGGGQAQQPEPLLHQR*WLPASSLPHEHQSV*PS*DQREPRQPDRTRG*QRCYHLQWLWITPS*CGLDSHWAAVHQHSPDQSELDQCSCHQLDAGECDE*GQWLHPDVHCRERGGHEQCQCCPHCLLSPTCGEPGGA*AAPGALHRVCGAWQPPTNAALAAQWAASAGVQDHPCGILPRGRDFRGLPALQQAHPLQQWQLYPHCQKPTGHSQPDHQWPLPQGALSREHG*LYLV*RSESHTSYHCDPQTRRRHFWGIHSSWTCCFCLCPVGGSLRHDQQIWSTVQIWNEGSRGCHQW*GGLSQPTAPHQPRHHHALVTGCRARHCGHWHDSHPCH*EPPVLPSGTQLPQAGHVCAAH*EERHRAEARTG*GSLWKGLPGRVLQPQPDQGQDACGCEGPEGSHPGCPEGFPEGGRAAHQPAA*AHCQVLWSVRRWGPPHHGL*IHEAWRPE*VPQGPWARCNDPCGWTATPGQG*AGALPNAPHCQSDRLGYGVPGLPALCAPRPGHQELPGWSESASEDWGLRHVQRCLQHGLLQGRAMPEGPVQCGVAAAEASSNGSFHTL*SIWK*FLYMV*GGRTHHAPHSLDAS*KHHVPEVHYRE*CMELRGDPLGDLHLWKAAMVPTLKHGGH*VHYPRSCFGAAPSLPQRGVRCHAGVLAEGTTAAVEHQGDLQNPPCFGEGHPNLPGHSWL CRTC3--NTRK3 27 LH00995:25:23T55JLT4:1:1143:17496:25283,LH00995:25:23T55JLT4:1:1407:2610:27077,LH00995:25:23T55JLT4:1:2406:1316:25592,LH00995:25:23T55JLT4:1:2487:10198:10767,LH00995:25:23T55JLT4:2:1135:9454:18922,LH00995:25:23T55JLT4:2:1446:14607:8090,LH00995:25:23T55JLT4:2:2117:42372:26811,LH00995:25:23T55JLT4:2:2178:29525:10192,LH00995:25:23T55JLT4:2:2259:21670:22789,LH00995:25:23T55JLT4:2:2403:13564:18669,LH00995:25:23T55JLT4:3:2167:46328:20603,LH00995:25:23T55JLT4:3:2216:1356:15012,LH00995:25:23T55JLT4:3:2302:49273:25507,LH00995:25:23T55JLT4:3:2366:26273:26110,LH00995:25:23T55JLT4:3:2376:15522:7824,LH00995:25:23T55JLT4:3:2395:10562:16442,LH00995:25:23T55JLT4:4:1212:31200:10795,LH00995:25:23T55JLT4:4:1215:25537:18782,LH00995:25:23T55JLT4:4:1428:27252:9814,LH00995:25:23T55JLT4:5:2237:13580:8132,LH00995:25:23T55JLT4:5:2409:32616:5568,LH00995:25:23T55JLT4:6:1451:5814:4461,LH00995:25:23T55JLT4:8:1330:12148:2233,LH00995:25:23T55JLT4:8:1460:41620:25732,LH00995:25:23T55JLT4:8:2229:43537:4923,LH00995:25:23T55JLT4:8:2275:18693:20435,LH00995:25:23T55JLT4:8:2487:7618:9127 YES_LDAS GT 1.9656 chr15:90540137:+ CRTC3^ENSG00000140577.16 TORC_N|11-64|1.2e-21^TORC_M|51-70|0.19^TORC_M-PARTIAL|159-231~|1.3e-66 I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 FRAMESHIFT AG 1.8295 chr15:88184299:- NTRK3^ENSG00000140538.16 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr15:2.27Mb]""]" False chr15:90540137-chr15:88184299 27.0 0.0 27 1173_SK8 STAR-Fusion
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 CRTC3 NTRK3 90540137 88184299 chr15:90540137-chr15:88184299 +,- STAR-Fusion 1 0 11 0.0539 11 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 "[""INTRACHROMOSOMAL[chr15:2.27Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.8295 False False False GT AG 11 False 1 ENST00000268184.11 1-231 ENST00000626019.2 249-2595 0.0539 PASS atggccgcctcgccgggctcgggcagcgccaacccgcggaagttcagtgagaagatcgcgctgcacacgcagagacaggccgaggagacgcgggccttcgagcagctcatgaccgacctcaccctgtcgcgggttcaatttcagaagcttcagcaactgcgccttacacagtaccatggaggatccttaccaaatgtgagccagctgcggagcagtgcgtcagagtttcagACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG chr15|+|[0]90530072-90530203[2]|[0]90540039-90540137[2]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] MAASPGSGSANPRKFSEKIALHTQRQAEETRAFEQLMTDLTLSRVQFQKLQQLRLTQYHGGSLPNVSQLRSSASEFQTHRELAQSSHAQRRGHGALHRTSKADHQELRTSEHSAQSLCQEPPFALYKPVK*PAHHTLVAALPDAESSGIAVGAELFQLQL*HPLDAALAGAGGGQAQQPEPLLHQR*WLPASSLPHEHQSV*PS*DQREPRQPDRTRG*QRCYHLQWLWITPS*CGLDSHWAAVHQHSPDQSELDQCSCHQLDAGECDE*GQWLHPDVHCRERGGHEQCQCCPHCLLSPTCGEPGGA*AAPGALHRVCGAWQPPTNAALAAQWAASAGVQDHPCGILPRGRDFRGLPALQQAHPLQQWQLYPHCQKPTGHSQPDHQWPLPQGALSREHG*LYLV*RSESHTSYHCDPQTRRRHFWGIHSSWTCCFCLCPVGGSLRHDQQIWSTVQIWNEGSRGCHQW*GGLSQPTAPHQPRHHHALVTGCRARHCGHWHDSHPCH*EPPVLPSGTQLPQAGHVCAAH*EERHRAEARTG*GSLWKGLPGRVLQPQPDQGQDACGCEGPEGSHPGCPEGFPEGGRAAHQPAA*AHCQVLWSVRRWGPPHHGL*IHEAWRPE*VPQGPWARCNDPCGWTATPGQG*AGALPNAPHCQSDRLGYGVPGLPALCAPRPGHQELPGWSESASEDWGLRHVQRCLQHGLLQGRAMPEGPVQCGVAAAEASSNGSFHTL*SIWK*FLYMV*GGRTHHAPHSLDAS*KHHVPEVHYRE*CMELRGDPLGDLHLWKAAMVPTLKHGGH*VHYPRSCFGAAPSLPQRGVRCHAGVLAEGTTAAVEHQGDLQNPPCFGEGHPNLPGHSWL CRTC3--NTRK3 11 LH00995:25:23T55JLT4:1:2209:51417:14620,LH00995:25:23T55JLT4:1:2257:42202:23350,LH00995:25:23T55JLT4:2:1106:2230:3522,LH00995:25:23T55JLT4:2:2267:45188:3494,LH00995:25:23T55JLT4:2:2372:47388:2261,LH00995:25:23T55JLT4:4:2119:50527:15180,LH00995:25:23T55JLT4:5:1197:9163:4881,LH00995:25:23T55JLT4:5:2333:1817:8413,LH00995:25:23T55JLT4:6:2408:12180:5988,LH00995:25:23T55JLT4:7:1453:21257:15601,LH00995:25:23T55JLT4:7:2271:46094:28520 YES_LDAS GT 1.9656 chr15:90540137:+ CRTC3^ENSG00000140577.16 TORC_N|11-64|1.2e-21^TORC_M|51-70|0.19^TORC_M-PARTIAL|159-231~|1.3e-66 I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 FRAMESHIFT AG 1.8295 chr15:88184299:- NTRK3^ENSG00000140538.16 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr15:2.27Mb]""]" False chr15:90540137-chr15:88184299 11.0 0.0 11 1173_SK8 STAR-Fusion
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 CRTC3 NTRK3 90540137 88184299 chr15:90540137-chr15:88184299 +,- Arriba 1 0 11 11 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 confidence:medium;duplicates(7) medium inversion CDS/splice-site CDS/splice-site 3339 1846 7.0 0.0 0.0 0.0 8 3 False duplicates(7) FAIL False chr15:90540137 chr15:88184299 chr15:90540137-chr15:88184299 . . medium 3339 1846 downstream downstream 0 confidence_below_min(medium<high) duplicates(7) CGCAGAGACAGGCCGAGGAGACGCGGGCCTTCGAGCAGCTCATGACCGACCTCACCCTGTCGCGG___GTTCAATTTCAGAAGCTTCAGCAACTGCGCCTTACACAGTACCATGGAGGATCCTTACCAAATGTGAGCCAGCTGCGGAGCAaTGCGTCAGAGTTTCAG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGA CRTC3 NTRK3 ENSG00000140577 ENSG00000140538 QRQAEETRAFEQLMTDLTLSRVQFQKLQQLRLTQYHGGSLPNVSQLRSnASEFQ|threlaqsshaqrrghgalhrtskadhqelrts LH00995:25:23T55JLT4:1:2209:51417:14620,LH00995:25:23T55JLT4:2:1106:2230:3522,LH00995:25:23T55JLT4:2:1211:24145:9421,LH00995:25:23T55JLT4:2:2372:47388:2261,LH00995:25:23T55JLT4:1:2257:42202:23350,LH00995:25:23T55JLT4:2:1368:33239:29067,LH00995:25:23T55JLT4:2:1368:33255:29067,LH00995:25:23T55JLT4:2:2267:45188:3494,LH00995:25:23T55JLT4:3:2485:45972:7656,LH00995:25:23T55JLT4:4:2119:50527:15180,LH00995:25:23T55JLT4:4:2452:29088:19889,LH00995:25:23T55JLT4:5:1197:9163:4881,LH00995:25:23T55JLT4:5:2314:32292:8202,LH00995:25:23T55JLT4:5:2333:1817:8413,LH00995:25:23T55JLT4:6:2408:12180:5988,LH00995:25:23T55JLT4:7:1453:21257:15601,LH00995:25:23T55JLT4:7:2271:46094:28520,LH00995:25:23T55JLT4:8:1380:33870:9814 out-of-frame Transducer_of_regulated_CREB_activity__N_terminus(90%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 8 3 +/+ -/- . 11 ENST00000268184 ENST00000394480 inversion 0.0023902001792650133 0.0016224986479177934 0.0020063494135914035 1173_SK8 Arriba
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 CRTC3 NTRK3 90540137 88184299 chr15:90540137-chr15:88184299 +,- Arriba 1 0 25 25 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 confidence:medium;duplicates(14) medium inversion CDS/splice-site CDS/splice-site 4297 3918 14.0 0.0 0.0 0.0 11 14 False duplicates(14) FAIL False chr15:90540137 chr15:88184299 chr15:90540137-chr15:88184299 . . medium 4297 3918 downstream downstream 0 confidence_below_min(medium<high) duplicates(14) GTTCAATTTCAGAAGCTTCAGCAACTGCGCCTTACACAGTACCATGGAGGATCCTTACCAAATGTGAGCCAGCTGCGGAGCAaTGCGTCAGAGTTTCAG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCC CRTC3 NTRK3 ENSG00000140577 ENSG00000140538 VQFQKLQQLRLTQYHGGSLPNVSQLRSnASEFQ|threlaqsshaqrrghgalhrtskadhqelrtsehsaqslcqep LH00995:25:23T55JLT4:1:1143:17496:25283,LH00995:25:23T55JLT4:1:2406:1316:25592,LH00995:25:23T55JLT4:2:1135:9454:18922,LH00995:25:23T55JLT4:2:1446:14607:8090,LH00995:25:23T55JLT4:2:2126:43238:22145,LH00995:25:23T55JLT4:2:2259:21670:22789,LH00995:25:23T55JLT4:2:2403:13564:18669,LH00995:25:23T55JLT4:3:2216:1356:15012,LH00995:25:23T55JLT4:3:2366:26273:26110,LH00995:25:23T55JLT4:3:2384:29550:25115,LH00995:25:23T55JLT4:3:2395:10562:16442,LH00995:25:23T55JLT4:4:1215:25537:18782,LH00995:25:23T55JLT4:4:1298:27543:21444,LH00995:25:23T55JLT4:5:1101:50915:23392,LH00995:25:23T55JLT4:5:2191:21516:4419,LH00995:25:23T55JLT4:5:2237:13580:8132,LH00995:25:23T55JLT4:5:2365:39670:1392,LH00995:25:23T55JLT4:5:2409:32616:5568,LH00995:25:23T55JLT4:6:1145:51029:27735,LH00995:25:23T55JLT4:6:1398:33611:3452,LH00995:25:23T55JLT4:6:2326:11355:21766,LH00995:25:23T55JLT4:8:1171:2327:21542,LH00995:25:23T55JLT4:8:1460:41620:25732,LH00995:25:23T55JLT4:8:2275:18693:20435,LH00995:25:23T55JLT4:8:2487:7618:9127,LH00995:25:23T55JLT4:1:1407:2610:27077,LH00995:25:23T55JLT4:1:2487:10198:10767,LH00995:25:23T55JLT4:2:2117:42372:26811,LH00995:25:23T55JLT4:2:2178:29525:10192,LH00995:25:23T55JLT4:2:2238:35900:6297,LH00995:25:23T55JLT4:3:2167:46328:20603,LH00995:25:23T55JLT4:3:2302:49273:25507,LH00995:25:23T55JLT4:3:2376:15522:7824,LH00995:25:23T55JLT4:4:1212:31200:10795,LH00995:25:23T55JLT4:4:1428:27252:9814,LH00995:25:23T55JLT4:6:1451:5814:4461,LH00995:25:23T55JLT4:8:1330:12148:2233,LH00995:25:23T55JLT4:8:2229:43537:4923,LH00995:25:23T55JLT4:8:2291:23450:2331 out-of-frame Transducer_of_regulated_CREB_activity__N_terminus(90%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 11 14 +/+ -/- . 25 ENST00000268184 ENST00000394480 inversion 0.00255338904363974 0.003560528992878942 0.003056959018259341 1173_SK8 Arriba
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 CRTC3 NTRK3 90540137 88147403 chr15:90540137-chr15:88147403 +,- Arriba 1 0 1 1 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 4297 1549 0 1 False FAIL False chr15:90540137 chr15:88147403 chr15:90540137-chr15:88147403 . . low 4297 1549 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CTTCAGCAACTGCGCCTTACACAGTACCATGGAGGATCCTTACCAAATGTGAGCCAGCTGCGGAGCAaTGCGTCAGAGTTTCAG|AAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGTAAGTTTGGTTTTGAAGACTGTCCAGGTACTGAAGTGCTGGTAATGGGTGGATGGGGAGGAGTGTCAAGCAGTGGAACCACCTGAAGGCTGAGC CRTC3 NTRK3 ENSG00000140577 ENSG00000140538 LQQLRLTQYHGGSLPNVSQLRSnASEFQ|kpvk* LH00995:25:23T55JLT4:2:2178:4082:22341 out-of-frame Transducer_of_regulated_CREB_activity__N_terminus(90%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(49%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000268184 ENST00000394480 inversion 0.0 0.0006451612903225806 0.0003225806451612903 1173_SK8 Arriba
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 CRTC3 NTRK3 90530203 88184299 chr15:90530203-chr15:88184299 +,- Arriba 1 0 1 1 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 confidence:low;duplicates(3) low inversion CDS/splice-site CDS/splice-site 3764 3918 3.0 0.0 0.0 0.0 0 1 False duplicates(3) FAIL False chr15:90530203 chr15:88184299 chr15:90530203-chr15:88184299 . . low 3764 3918 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(3) CGAGGAGACGCGGGCCTTCGAGCAGCTCATGACCGACCTCACCCTGTCGCGG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTG CRTC3 NTRK3 ENSG00000140577 ENSG00000140538 EETRAFEQLMTDLTLSR|threlaqsshaqrrghgalhrtska LH00995:25:23T55JLT4:3:2419:23968:12560,LH00995:25:23T55JLT4:5:2282:26629:28744,LH00995:25:23T55JLT4:6:1351:13402:3424,LH00995:25:23T55JLT4:6:2228:1777:13023 out-of-frame Transducer_of_regulated_CREB_activity__N_terminus(45%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000268184 ENST00000394480 inversion 0.0 0.00025516713447307985 0.00012758356723653993 1173_SK8 Arriba
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 CRTC3 NTRK3 90540137 88184299 chr15:90540137-chr15:88184299 +,- STAR-Fusion 1 0 11 0.0539 11 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 "[""INTRACHROMOSOMAL[chr15:2.27Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.8295 False False False GT AG 11 False 1 ENST00000268184.11 1-231 ENST00000626019.2 249-2595 0.0539 PASS atggccgcctcgccgggctcgggcagcgccaacccgcggaagttcagtgagaagatcgcgctgcacacgcagagacaggccgaggagacgcgggccttcgagcagctcatgaccgacctcaccctgtcgcgggttcaatttcagaagcttcagcaactgcgccttacacagtaccatggaggatccttaccaaatgtgagccagctgcggagcagtgcgtcagagtttcagACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG chr15|+|[0]90530072-90530203[2]|[0]90540039-90540137[2]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] MAASPGSGSANPRKFSEKIALHTQRQAEETRAFEQLMTDLTLSRVQFQKLQQLRLTQYHGGSLPNVSQLRSSASEFQTHRELAQSSHAQRRGHGALHRTSKADHQELRTSEHSAQSLCQEPPFALYKPVK*PAHHTLVAALPDAESSGIAVGAELFQLQL*HPLDAALAGAGGGQAQQPEPLLHQR*WLPASSLPHEHQSV*PS*DQREPRQPDRTRG*QRCYHLQWLWITPS*CGLDSHWAAVHQHSPDQSELDQCSCHQLDAGECDE*GQWLHPDVHCRERGGHEQCQCCPHCLLSPTCGEPGGA*AAPGALHRVCGAWQPPTNAALAAQWAASAGVQDHPCGILPRGRDFRGLPALQQAHPLQQWQLYPHCQKPTGHSQPDHQWPLPQGALSREHG*LYLV*RSESHTSYHCDPQTRRRHFWGIHSSWTCCFCLCPVGGSLRHDQQIWSTVQIWNEGSRGCHQW*GGLSQPTAPHQPRHHHALVTGCRARHCGHWHDSHPCH*EPPVLPSGTQLPQAGHVCAAH*EERHRAEARTG*GSLWKGLPGRVLQPQPDQGQDACGCEGPEGSHPGCPEGFPEGGRAAHQPAA*AHCQVLWSVRRWGPPHHGL*IHEAWRPE*VPQGPWARCNDPCGWTATPGQG*AGALPNAPHCQSDRLGYGVPGLPALCAPRPGHQELPGWSESASEDWGLRHVQRCLQHGLLQGRAMPEGPVQCGVAAAEASSNGSFHTL*SIWK*FLYMV*GGRTHHAPHSLDAS*KHHVPEVHYRE*CMELRGDPLGDLHLWKAAMVPTLKHGGH*VHYPRSCFGAAPSLPQRGVRCHAGVLAEGTTAAVEHQGDLQNPPCFGEGHPNLPGHSWL CRTC3--NTRK3 11 LH00995:25:23T55JLT4:1:2209:51417:14620,LH00995:25:23T55JLT4:1:2257:42202:23350,LH00995:25:23T55JLT4:2:1106:2230:3522,LH00995:25:23T55JLT4:2:2267:45188:3494,LH00995:25:23T55JLT4:2:2372:47388:2261,LH00995:25:23T55JLT4:4:2119:50527:15180,LH00995:25:23T55JLT4:5:1197:9163:4881,LH00995:25:23T55JLT4:5:2333:1817:8413,LH00995:25:23T55JLT4:6:2408:12180:5988,LH00995:25:23T55JLT4:7:1453:21257:15601,LH00995:25:23T55JLT4:7:2271:46094:28520 YES_LDAS GT 1.9656 chr15:90540137:+ CRTC3^ENSG00000140577.16 TORC_N|11-64|1.2e-21^TORC_M|51-70|0.19^TORC_M-PARTIAL|159-231~|1.3e-66 I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 FRAMESHIFT AG 1.8295 chr15:88184299:- NTRK3^ENSG00000140538.16 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr15:2.27Mb]""]" False chr15:90540137-chr15:88184299 11.0 0.0 11 1173_SK8 STAR-Fusion
fp_audit 1173_SK8 fusion CRTC3--NTRK3 CRTC3--NTRK3 CRTC3--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 CRTC3 NTRK3 90540137 88184299 chr15:90540137-chr15:88184299 +,- STAR-Fusion 1 0 27 0.0915 27 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 "[""INTRACHROMOSOMAL[chr15:2.27Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.8295 False False False GT AG 27 False 1 ENST00000268184.11 1-231 ENST00000626019.2 249-2595 0.0915 PASS atggccgcctcgccgggctcgggcagcgccaacccgcggaagttcagtgagaagatcgcgctgcacacgcagagacaggccgaggagacgcgggccttcgagcagctcatgaccgacctcaccctgtcgcgggttcaatttcagaagcttcagcaactgcgccttacacagtaccatggaggatccttaccaaatgtgagccagctgcggagcagtgcgtcagagtttcagACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG chr15|+|[0]90530072-90530203[2]|[0]90540039-90540137[2]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] MAASPGSGSANPRKFSEKIALHTQRQAEETRAFEQLMTDLTLSRVQFQKLQQLRLTQYHGGSLPNVSQLRSSASEFQTHRELAQSSHAQRRGHGALHRTSKADHQELRTSEHSAQSLCQEPPFALYKPVK*PAHHTLVAALPDAESSGIAVGAELFQLQL*HPLDAALAGAGGGQAQQPEPLLHQR*WLPASSLPHEHQSV*PS*DQREPRQPDRTRG*QRCYHLQWLWITPS*CGLDSHWAAVHQHSPDQSELDQCSCHQLDAGECDE*GQWLHPDVHCRERGGHEQCQCCPHCLLSPTCGEPGGA*AAPGALHRVCGAWQPPTNAALAAQWAASAGVQDHPCGILPRGRDFRGLPALQQAHPLQQWQLYPHCQKPTGHSQPDHQWPLPQGALSREHG*LYLV*RSESHTSYHCDPQTRRRHFWGIHSSWTCCFCLCPVGGSLRHDQQIWSTVQIWNEGSRGCHQW*GGLSQPTAPHQPRHHHALVTGCRARHCGHWHDSHPCH*EPPVLPSGTQLPQAGHVCAAH*EERHRAEARTG*GSLWKGLPGRVLQPQPDQGQDACGCEGPEGSHPGCPEGFPEGGRAAHQPAA*AHCQVLWSVRRWGPPHHGL*IHEAWRPE*VPQGPWARCNDPCGWTATPGQG*AGALPNAPHCQSDRLGYGVPGLPALCAPRPGHQELPGWSESASEDWGLRHVQRCLQHGLLQGRAMPEGPVQCGVAAAEASSNGSFHTL*SIWK*FLYMV*GGRTHHAPHSLDAS*KHHVPEVHYRE*CMELRGDPLGDLHLWKAAMVPTLKHGGH*VHYPRSCFGAAPSLPQRGVRCHAGVLAEGTTAAVEHQGDLQNPPCFGEGHPNLPGHSWL CRTC3--NTRK3 27 LH00995:25:23T55JLT4:1:1143:17496:25283,LH00995:25:23T55JLT4:1:1407:2610:27077,LH00995:25:23T55JLT4:1:2406:1316:25592,LH00995:25:23T55JLT4:1:2487:10198:10767,LH00995:25:23T55JLT4:2:1135:9454:18922,LH00995:25:23T55JLT4:2:1446:14607:8090,LH00995:25:23T55JLT4:2:2117:42372:26811,LH00995:25:23T55JLT4:2:2178:29525:10192,LH00995:25:23T55JLT4:2:2259:21670:22789,LH00995:25:23T55JLT4:2:2403:13564:18669,LH00995:25:23T55JLT4:3:2167:46328:20603,LH00995:25:23T55JLT4:3:2216:1356:15012,LH00995:25:23T55JLT4:3:2302:49273:25507,LH00995:25:23T55JLT4:3:2366:26273:26110,LH00995:25:23T55JLT4:3:2376:15522:7824,LH00995:25:23T55JLT4:3:2395:10562:16442,LH00995:25:23T55JLT4:4:1212:31200:10795,LH00995:25:23T55JLT4:4:1215:25537:18782,LH00995:25:23T55JLT4:4:1428:27252:9814,LH00995:25:23T55JLT4:5:2237:13580:8132,LH00995:25:23T55JLT4:5:2409:32616:5568,LH00995:25:23T55JLT4:6:1451:5814:4461,LH00995:25:23T55JLT4:8:1330:12148:2233,LH00995:25:23T55JLT4:8:1460:41620:25732,LH00995:25:23T55JLT4:8:2229:43537:4923,LH00995:25:23T55JLT4:8:2275:18693:20435,LH00995:25:23T55JLT4:8:2487:7618:9127 YES_LDAS GT 1.9656 chr15:90540137:+ CRTC3^ENSG00000140577.16 TORC_N|11-64|1.2e-21^TORC_M|51-70|0.19^TORC_M-PARTIAL|159-231~|1.3e-66 I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 FRAMESHIFT AG 1.8295 chr15:88184299:- NTRK3^ENSG00000140538.16 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr15:2.27Mb]""]" False chr15:90540137-chr15:88184299 27.0 0.0 27 1173_SK8 STAR-Fusion
fp_audit 1173_SK8 fusion IDH2--NTRK3 IDH2--NTRK3 IDH2--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IDH2 NTRK3 90102276 88184299 chr15:90102276-chr15:88184299 -,- Arriba 1 0 44 44 PASS out-of-frame IDH2--NTRK3 IDH2--NTRK3 confidence:medium;duplicates(39) medium deletion CDS/splice-site CDS/splice-site 37181 3918 39.0 0.0 0.0 0.0 3 41 False duplicates(39) FAIL False chr15:90102276 chr15:88184299 chr15:90102276-chr15:88184299 . . medium 37181 3918 upstream downstream 0 confidence_below_min(medium<high) duplicates(39) CTCTGCAGAGCCTCAGGCTCGCGGCCGGCCTGGGCGCCGGCGGCCCTGACAGCCCCCACCTCGCAAGAGCAGCCGCGGCGCCACT|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGA IDH2 NTRK3 ENSG00000182054 ENSG00000140538 LCRASGSRPAWAPAALTAPTSQEQPRRH|yt* LH00995:25:23T55JLT4:1:1123:6776:3382,LH00995:25:23T55JLT4:1:1180:37939:9940,LH00995:25:23T55JLT4:1:1278:25197:25367,LH00995:25:23T55JLT4:1:1330:13912:13751,LH00995:25:23T55JLT4:1:1396:32462:23770,LH00995:25:23T55JLT4:1:1397:48941:19524,LH00995:25:23T55JLT4:1:1451:36734:4125,LH00995:25:23T55JLT4:1:1464:27608:1771,LH00995:25:23T55JLT4:1:2113:8831:28296,LH00995:25:23T55JLT4:1:2115:18046:6955,LH00995:25:23T55JLT4:1:2329:7585:24989,LH00995:25:23T55JLT4:1:2374:15295:17633,LH00995:25:23T55JLT4:1:2446:21128:28912,LH00995:25:23T55JLT4:1:2473:11290:18880,LH00995:25:23T55JLT4:2:1229:24065:3760,LH00995:25:23T55JLT4:2:1267:15238:28997,LH00995:25:23T55JLT4:2:1310:5166:20827,LH00995:25:23T55JLT4:2:1394:40034:28478,LH00995:25:23T55JLT4:2:1437:27932:1378,LH00995:25:23T55JLT4:2:1488:7440:10052,LH00995:25:23T55JLT4:2:2219:2569:25606,LH00995:25:23T55JLT4:2:2261:15821:23952,LH00995:25:23T55JLT4:2:2450:40479:25774,LH00995:25:23T55JLT4:3:1189:48885:13037,LH00995:25:23T55JLT4:3:1265:19607:20645,LH00995:25:23T55JLT4:3:1287:42809:4083,LH00995:25:23T55JLT4:3:1310:30836:19524,LH00995:25:23T55JLT4:3:1482:3354:29347,LH00995:25:23T55JLT4:3:2117:24599:9590,LH00995:25:23T55JLT4:3:2133:18992:18403,LH00995:25:23T55JLT4:3:2168:18377:27651,LH00995:25:23T55JLT4:3:2177:11970:8651,LH00995:25:23T55JLT4:3:2333:42680:27511,LH00995:25:23T55JLT4:4:1229:11946:6563,LH00995:25:23T55JLT4:4:1311:46603:25087,LH00995:25:23T55JLT4:4:1412:50228:29459,LH00995:25:23T55JLT4:4:1436:40973:12140,LH00995:25:23T55JLT4:5:1143:50025:26474,LH00995:25:23T55JLT4:5:1164:39444:29193,LH00995:25:23T55JLT4:5:1191:20562:4251,LH00995:25:23T55JLT4:5:1191:27891:19412,LH00995:25:23T55JLT4:5:1337:43561:6843,LH00995:25:23T55JLT4:5:1340:9130:8637,LH00995:25:23T55JLT4:5:1443:33368:6535,LH00995:25:23T55JLT4:5:1456:1752:11159,LH00995:25:23T55JLT4:5:2116:16169:27721,LH00995:25:23T55JLT4:5:2153:48893:20645,LH00995:25:23T55JLT4:5:2277:32858:2289,LH00995:25:23T55JLT4:5:2348:16719:14578,LH00995:25:23T55JLT4:5:2361:32810:3382,LH00995:25:23T55JLT4:5:2428:18110:29235,LH00995:25:23T55JLT4:5:2459:14098:3060,LH00995:25:23T55JLT4:5:2466:47971:19076,LH00995:25:23T55JLT4:6:1108:5886:13359,LH00995:25:23T55JLT4:6:1139:8483:1070,LH00995:25:23T55JLT4:6:1222:7974:22327,LH00995:25:23T55JLT4:6:1231:13580:2191,LH00995:25:23T55JLT4:6:1373:17156:22509,LH00995:25:23T55JLT4:6:1378:15352:25325,LH00995:25:23T55JLT4:6:2232:41822:14956,LH00995:25:23T55JLT4:6:2253:28943:14031,LH00995:25:23T55JLT4:6:2301:51190:12182,LH00995:25:23T55JLT4:6:2364:38570:3887,LH00995:25:23T55JLT4:6:2381:21015:23139,LH00995:25:23T55JLT4:6:2420:28757:9113,LH00995:25:23T55JLT4:6:2466:36070:12840,LH00995:25:23T55JLT4:6:2484:21104:16932,LH00995:25:23T55JLT4:8:1251:38910:16890,LH00995:25:23T55JLT4:8:1331:39961:1589,LH00995:25:23T55JLT4:8:1331:39970:1603,LH00995:25:23T55JLT4:8:1350:20926:16287,LH00995:25:23T55JLT4:8:1432:32446:14045,LH00995:25:23T55JLT4:8:1471:19089:3130,LH00995:25:23T55JLT4:8:2180:7836:18950,LH00995:25:23T55JLT4:8:2245:4770:8735,LH00995:25:23T55JLT4:8:2450:7173:20239,LH00995:25:23T55JLT4:8:2458:43748:2738,LH00995:25:23T55JLT4:8:2458:51393:17969,LH00995:25:23T55JLT4:8:2483:5053:8076,LH00995:25:23T55JLT4:5:1272:32559:17408,LH00995:25:23T55JLT4:5:2462:44913:2037,LH00995:25:23T55JLT4:6:2447:39800:24709,LH00995:25:23T55JLT4:8:2175:15724:16694 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 3 41 -/- -/- . 44 ENST00000330062 ENST00000394480 deletion 8.067986230636834e-05 0.01035615054306643 0.0052184152026863995 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IDH2--NTRK3 IDH2--NTRK3 IDH2--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IDH2 NTRK3 90102276 88184299 chr15:90102276-chr15:88184299 -,- Arriba 1 0 14 14 PASS out-of-frame IDH2--NTRK3 IDH2--NTRK3 confidence:medium;duplicates(6) medium deletion CDS/splice-site CDS/splice-site 30980 1846 6.0 0.0 0.0 0.0 7 7 False duplicates(6) FAIL False chr15:90102276 chr15:88184299 chr15:90102276-chr15:88184299 . . medium 30980 1846 upstream downstream 0 confidence_below_min(medium<high) duplicates(6) GCGGGTCGTGCGCTCGCTCTGCAGAGCCTCAGGCTCGCGGCCGGCCTGGGCGCCGGCGGCCCTGACAGCCCCCACCTCGCAAGAGCAGCCGCGGCGCCACT|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTT IDH2 NTRK3 ENSG00000182054 ENSG00000140538 RVVRSLCRASGSRPAWAPAALTAPTSQEQPRRH|yt* LH00995:25:23T55JLT4:2:2213:41321:11425,LH00995:25:23T55JLT4:3:1104:41377:26236,LH00995:25:23T55JLT4:4:2125:31079:15909,LH00995:25:23T55JLT4:6:1490:13693:10963,LH00995:25:23T55JLT4:6:2377:51651:8581,LH00995:25:23T55JLT4:6:2381:12229:13247,LH00995:25:23T55JLT4:6:2477:11590:7460,LH00995:25:23T55JLT4:7:2427:12188:23125,LH00995:25:23T55JLT4:8:2115:3856:20827,LH00995:25:23T55JLT4:1:1296:37551:4503,LH00995:25:23T55JLT4:2:1253:24356:25311,LH00995:25:23T55JLT4:3:1174:45883:15993,LH00995:25:23T55JLT4:3:1350:7771:6899,LH00995:25:23T55JLT4:3:1479:40204:20141,LH00995:25:23T55JLT4:3:2281:50098:5582,LH00995:25:23T55JLT4:6:1427:3961:12294,LH00995:25:23T55JLT4:7:2135:13475:19664,LH00995:25:23T55JLT4:7:2169:41086:25087,LH00995:25:23T55JLT4:8:1465:42963:21500,LH00995:25:23T55JLT4:8:2478:4171:26390 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 7 7 -/- -/- . 14 ENST00000330062 ENST00000394480 deletion 0.00022590118436763805 0.0037776578521316784 0.002001779518249658 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IDH2--NTRK3 IDH2--NTRK3 IDH2--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IDH2 NTRK3 90102276 88184299 chr15:90102276-chr15:88184299 -,- STAR-Fusion 1 0 47 0.1593 47 PASS out-of-frame IDH2--NTRK3 IDH2--NTRK3 "[""INTRACHROMOSOMAL[chr15:1.83Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.6895 False False False GT AG 47 False 1 ENST00000560061.1 1-115 ENST00000626019.2 249-2595 0.1593 PASS atggccggctacctgcgggtcgtgcgctcgctctgcagagcctcaggctcgcggccggcctgggcgccggcggccctgacagcccccacctcgcaagagcagccgcggcgccactACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG chr15|-|[0]90102276-90102390[0]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYT*RTGAVFTRSTPWTWSSTPDFKS*PSRTQDFGAFSPEPLPRTPICVI*TCQVTGSPHSRGSSSRR*VFGNCSWSRTFSTAAVTSAGCSSGRSRGRPSSTARTSTASTLMAPSFLSSA*TSVSVTFLRSA*ATST*PYERVTTLLSLAMALDHPFLMWTG*SLGCSPSTLTRPI*TGPMFMPST*RW*M*RVRTMASP*RALQRTWWA*AMPVLPSLSTIPHVW*AWRSLSCAWSTASSLWCVATPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQRARITLSCLTK*VPHLLSL*PTNQKKTLLGYP*QLDLLLLPVSCWWFSSS*STNMVDGPNLE*RVPWLSSVVRRTQPAHCTTSTTASPRPRHWMPGPTLWSLA*LASLSLRTPSTSVRDTTATSRTRMCSTLRGETSC*SENWVREPLERSSWPSATTSARPRTRCLWL*RP*RIPPWLPGRISRGRPSCSPTCSMSTLSSSMECAAMGTPSSWSLNT*SMET*ISSSGPMGQMQ*SLWMDSHARPRVSWGSPKCSTLPVRSPRVWCTWPPSTLCTETWPPGTAWLERIC**RLGTSACPEMSTARIITGKGHARRARSVWCGSGRG*QQRQLPHSLIHLEMIFVYGVRWEDTPCSPFAGCLLKASCTGSSLQRVMYGASG*SSGRSSPMESSHGSNSQTRRSLSALPKVVFWSGPESAPKRCTMSCWGAGRGNHSSG*TSRRSTKSSMLWGRPPQSTWTFLA IDH2--NTRK3 47 LH00995:25:23T55JLT4:1:1123:6776:3382,LH00995:25:23T55JLT4:1:1180:37939:9940,LH00995:25:23T55JLT4:1:1278:25197:25367,LH00995:25:23T55JLT4:1:1330:13912:13751,LH00995:25:23T55JLT4:1:1396:32462:23770,LH00995:25:23T55JLT4:1:1397:48941:19524,LH00995:25:23T55JLT4:1:1451:36734:4125,LH00995:25:23T55JLT4:1:1464:27608:1771,LH00995:25:23T55JLT4:1:2113:8831:28296,LH00995:25:23T55JLT4:1:2115:18046:6955,LH00995:25:23T55JLT4:1:2329:7585:24989,LH00995:25:23T55JLT4:1:2374:15295:17633,LH00995:25:23T55JLT4:1:2446:21128:28912,LH00995:25:23T55JLT4:1:2473:11290:18880,LH00995:25:23T55JLT4:2:1229:24065:3760,LH00995:25:23T55JLT4:2:1267:15238:28997,LH00995:25:23T55JLT4:2:1310:5166:20827,LH00995:25:23T55JLT4:2:1394:40034:28478,LH00995:25:23T55JLT4:2:1437:27932:1378,LH00995:25:23T55JLT4:2:1488:7440:10052,LH00995:25:23T55JLT4:2:2219:2569:25606,LH00995:25:23T55JLT4:2:2450:40479:25774,LH00995:25:23T55JLT4:3:1482:3354:29347,LH00995:25:23T55JLT4:3:2168:18377:27651,LH00995:25:23T55JLT4:3:2177:11970:8651,LH00995:25:23T55JLT4:4:1229:11946:6563,LH00995:25:23T55JLT4:4:1436:40973:12140,LH00995:25:23T55JLT4:5:1191:27891:19412,LH00995:25:23T55JLT4:5:1272:32559:17408,LH00995:25:23T55JLT4:5:1337:43561:6843,LH00995:25:23T55JLT4:5:1443:33368:6535,LH00995:25:23T55JLT4:5:2153:48893:20645,LH00995:25:23T55JLT4:5:2277:32858:2289,LH00995:25:23T55JLT4:5:2462:44913:2037,LH00995:25:23T55JLT4:5:2466:47971:19076,LH00995:25:23T55JLT4:6:1108:5886:13359,LH00995:25:23T55JLT4:6:1139:8483:1070,LH00995:25:23T55JLT4:6:1373:17156:22509,LH00995:25:23T55JLT4:6:1378:15352:25325,LH00995:25:23T55JLT4:6:2253:28943:14031,LH00995:25:23T55JLT4:6:2447:39800:24709,LH00995:25:23T55JLT4:6:2466:36070:12840,LH00995:25:23T55JLT4:6:2484:21104:16932,LH00995:25:23T55JLT4:8:1331:39961:1589,LH00995:25:23T55JLT4:8:2180:7836:18950,LH00995:25:23T55JLT4:8:2450:7173:20239,LH00995:25:23T55JLT4:8:2483:5053:8076 YES_LDAS GT 1.6895 chr15:90102276:- IDH2^ENSG00000182054.10 . I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 FRAMESHIFT AG 1.8295 chr15:88184299:- NTRK3^ENSG00000140538.16 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr15:1.83Mb]""]" False chr15:90102276-chr15:88184299 47.0 0.0 47 1173_SK8 STAR-Fusion
fp_audit 1173_SK8 fusion IDH2--NTRK3 IDH2--NTRK3 IDH2--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IDH2 NTRK3 90102276 88184299 chr15:90102276-chr15:88184299 -,- STAR-Fusion 1 0 14 0.0686 14 PASS out-of-frame IDH2--NTRK3 IDH2--NTRK3 "[""INTRACHROMOSOMAL[chr15:1.83Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.6895 False False False GT AG 14 False 1 ENST00000560061.1 1-115 ENST00000626019.2 249-2595 0.0686 PASS atggccggctacctgcgggtcgtgcgctcgctctgcagagcctcaggctcgcggccggcctgggcgccggcggccctgacagcccccacctcgcaagagcagccgcggcgccactACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG chr15|-|[0]90102276-90102390[0]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYT*RTGAVFTRSTPWTWSSTPDFKS*PSRTQDFGAFSPEPLPRTPICVI*TCQVTGSPHSRGSSSRR*VFGNCSWSRTFSTAAVTSAGCSSGRSRGRPSSTARTSTASTLMAPSFLSSA*TSVSVTFLRSA*ATST*PYERVTTLLSLAMALDHPFLMWTG*SLGCSPSTLTRPI*TGPMFMPST*RW*M*RVRTMASP*RALQRTWWA*AMPVLPSLSTIPHVW*AWRSLSCAWSTASSLWCVATPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQRARITLSCLTK*VPHLLSL*PTNQKKTLLGYP*QLDLLLLPVSCWWFSSS*STNMVDGPNLE*RVPWLSSVVRRTQPAHCTTSTTASPRPRHWMPGPTLWSLA*LASLSLRTPSTSVRDTTATSRTRMCSTLRGETSC*SENWVREPLERSSWPSATTSARPRTRCLWL*RP*RIPPWLPGRISRGRPSCSPTCSMSTLSSSMECAAMGTPSSWSLNT*SMET*ISSSGPMGQMQ*SLWMDSHARPRVSWGSPKCSTLPVRSPRVWCTWPPSTLCTETWPPGTAWLERIC**RLGTSACPEMSTARIITGKGHARRARSVWCGSGRG*QQRQLPHSLIHLEMIFVYGVRWEDTPCSPFAGCLLKASCTGSSLQRVMYGASG*SSGRSSPMESSHGSNSQTRRSLSALPKVVFWSGPESAPKRCTMSCWGAGRGNHSSG*TSRRSTKSSMLWGRPPQSTWTFLA IDH2--NTRK3 14 LH00995:25:23T55JLT4:1:1296:37551:4503,LH00995:25:23T55JLT4:2:1253:24356:25311,LH00995:25:23T55JLT4:2:2213:41321:11425,LH00995:25:23T55JLT4:3:1104:41377:26236,LH00995:25:23T55JLT4:3:1174:45883:15993,LH00995:25:23T55JLT4:3:2281:50098:5582,LH00995:25:23T55JLT4:4:2125:31079:15909,LH00995:25:23T55JLT4:6:1427:3961:12294,LH00995:25:23T55JLT4:6:1490:13693:10963,LH00995:25:23T55JLT4:6:2377:51651:8581,LH00995:25:23T55JLT4:6:2381:12229:13247,LH00995:25:23T55JLT4:7:2427:12188:23125,LH00995:25:23T55JLT4:8:1465:42963:21500,LH00995:25:23T55JLT4:8:2478:4171:26390 YES_LDAS GT 1.6895 chr15:90102276:- IDH2^ENSG00000182054.10 . I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 FRAMESHIFT AG 1.8295 chr15:88184299:- NTRK3^ENSG00000140538.16 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr15:1.83Mb]""]" False chr15:90102276-chr15:88184299 14.0 0.0 14 1173_SK8 STAR-Fusion
fp_audit 1173_SK8 fusion IDH2--NTRK3 IDH2--NTRK3 IDH2--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IDH2 NTRK3 90102276 88184299 chr15:90102276-chr15:88184299 -,- Arriba 1 0 14 14 PASS out-of-frame IDH2--NTRK3 IDH2--NTRK3 confidence:medium;duplicates(6) medium deletion CDS/splice-site CDS/splice-site 30980 1846 6.0 0.0 0.0 0.0 7 7 False duplicates(6) FAIL False chr15:90102276 chr15:88184299 chr15:90102276-chr15:88184299 . . medium 30980 1846 upstream downstream 0 confidence_below_min(medium<high) duplicates(6) GCGGGTCGTGCGCTCGCTCTGCAGAGCCTCAGGCTCGCGGCCGGCCTGGGCGCCGGCGGCCCTGACAGCCCCCACCTCGCAAGAGCAGCCGCGGCGCCACT|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTT IDH2 NTRK3 ENSG00000182054 ENSG00000140538 RVVRSLCRASGSRPAWAPAALTAPTSQEQPRRH|yt* LH00995:25:23T55JLT4:2:2213:41321:11425,LH00995:25:23T55JLT4:3:1104:41377:26236,LH00995:25:23T55JLT4:4:2125:31079:15909,LH00995:25:23T55JLT4:6:1490:13693:10963,LH00995:25:23T55JLT4:6:2377:51651:8581,LH00995:25:23T55JLT4:6:2381:12229:13247,LH00995:25:23T55JLT4:6:2477:11590:7460,LH00995:25:23T55JLT4:7:2427:12188:23125,LH00995:25:23T55JLT4:8:2115:3856:20827,LH00995:25:23T55JLT4:1:1296:37551:4503,LH00995:25:23T55JLT4:2:1253:24356:25311,LH00995:25:23T55JLT4:3:1174:45883:15993,LH00995:25:23T55JLT4:3:1350:7771:6899,LH00995:25:23T55JLT4:3:1479:40204:20141,LH00995:25:23T55JLT4:3:2281:50098:5582,LH00995:25:23T55JLT4:6:1427:3961:12294,LH00995:25:23T55JLT4:7:2135:13475:19664,LH00995:25:23T55JLT4:7:2169:41086:25087,LH00995:25:23T55JLT4:8:1465:42963:21500,LH00995:25:23T55JLT4:8:2478:4171:26390 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 7 7 -/- -/- . 14 ENST00000330062 ENST00000394480 deletion 0.00022590118436763805 0.0037776578521316784 0.002001779518249658 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IDH2--NTRK3 IDH2--NTRK3 IDH2--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IDH2 NTRK3 90102276 88184299 chr15:90102276-chr15:88184299 -,- Arriba 1 0 44 44 PASS out-of-frame IDH2--NTRK3 IDH2--NTRK3 confidence:medium;duplicates(39) medium deletion CDS/splice-site CDS/splice-site 37181 3918 39.0 0.0 0.0 0.0 3 41 False duplicates(39) FAIL False chr15:90102276 chr15:88184299 chr15:90102276-chr15:88184299 . . medium 37181 3918 upstream downstream 0 confidence_below_min(medium<high) duplicates(39) CTCTGCAGAGCCTCAGGCTCGCGGCCGGCCTGGGCGCCGGCGGCCCTGACAGCCCCCACCTCGCAAGAGCAGCCGCGGCGCCACT|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGA IDH2 NTRK3 ENSG00000182054 ENSG00000140538 LCRASGSRPAWAPAALTAPTSQEQPRRH|yt* LH00995:25:23T55JLT4:1:1123:6776:3382,LH00995:25:23T55JLT4:1:1180:37939:9940,LH00995:25:23T55JLT4:1:1278:25197:25367,LH00995:25:23T55JLT4:1:1330:13912:13751,LH00995:25:23T55JLT4:1:1396:32462:23770,LH00995:25:23T55JLT4:1:1397:48941:19524,LH00995:25:23T55JLT4:1:1451:36734:4125,LH00995:25:23T55JLT4:1:1464:27608:1771,LH00995:25:23T55JLT4:1:2113:8831:28296,LH00995:25:23T55JLT4:1:2115:18046:6955,LH00995:25:23T55JLT4:1:2329:7585:24989,LH00995:25:23T55JLT4:1:2374:15295:17633,LH00995:25:23T55JLT4:1:2446:21128:28912,LH00995:25:23T55JLT4:1:2473:11290:18880,LH00995:25:23T55JLT4:2:1229:24065:3760,LH00995:25:23T55JLT4:2:1267:15238:28997,LH00995:25:23T55JLT4:2:1310:5166:20827,LH00995:25:23T55JLT4:2:1394:40034:28478,LH00995:25:23T55JLT4:2:1437:27932:1378,LH00995:25:23T55JLT4:2:1488:7440:10052,LH00995:25:23T55JLT4:2:2219:2569:25606,LH00995:25:23T55JLT4:2:2261:15821:23952,LH00995:25:23T55JLT4:2:2450:40479:25774,LH00995:25:23T55JLT4:3:1189:48885:13037,LH00995:25:23T55JLT4:3:1265:19607:20645,LH00995:25:23T55JLT4:3:1287:42809:4083,LH00995:25:23T55JLT4:3:1310:30836:19524,LH00995:25:23T55JLT4:3:1482:3354:29347,LH00995:25:23T55JLT4:3:2117:24599:9590,LH00995:25:23T55JLT4:3:2133:18992:18403,LH00995:25:23T55JLT4:3:2168:18377:27651,LH00995:25:23T55JLT4:3:2177:11970:8651,LH00995:25:23T55JLT4:3:2333:42680:27511,LH00995:25:23T55JLT4:4:1229:11946:6563,LH00995:25:23T55JLT4:4:1311:46603:25087,LH00995:25:23T55JLT4:4:1412:50228:29459,LH00995:25:23T55JLT4:4:1436:40973:12140,LH00995:25:23T55JLT4:5:1143:50025:26474,LH00995:25:23T55JLT4:5:1164:39444:29193,LH00995:25:23T55JLT4:5:1191:20562:4251,LH00995:25:23T55JLT4:5:1191:27891:19412,LH00995:25:23T55JLT4:5:1337:43561:6843,LH00995:25:23T55JLT4:5:1340:9130:8637,LH00995:25:23T55JLT4:5:1443:33368:6535,LH00995:25:23T55JLT4:5:1456:1752:11159,LH00995:25:23T55JLT4:5:2116:16169:27721,LH00995:25:23T55JLT4:5:2153:48893:20645,LH00995:25:23T55JLT4:5:2277:32858:2289,LH00995:25:23T55JLT4:5:2348:16719:14578,LH00995:25:23T55JLT4:5:2361:32810:3382,LH00995:25:23T55JLT4:5:2428:18110:29235,LH00995:25:23T55JLT4:5:2459:14098:3060,LH00995:25:23T55JLT4:5:2466:47971:19076,LH00995:25:23T55JLT4:6:1108:5886:13359,LH00995:25:23T55JLT4:6:1139:8483:1070,LH00995:25:23T55JLT4:6:1222:7974:22327,LH00995:25:23T55JLT4:6:1231:13580:2191,LH00995:25:23T55JLT4:6:1373:17156:22509,LH00995:25:23T55JLT4:6:1378:15352:25325,LH00995:25:23T55JLT4:6:2232:41822:14956,LH00995:25:23T55JLT4:6:2253:28943:14031,LH00995:25:23T55JLT4:6:2301:51190:12182,LH00995:25:23T55JLT4:6:2364:38570:3887,LH00995:25:23T55JLT4:6:2381:21015:23139,LH00995:25:23T55JLT4:6:2420:28757:9113,LH00995:25:23T55JLT4:6:2466:36070:12840,LH00995:25:23T55JLT4:6:2484:21104:16932,LH00995:25:23T55JLT4:8:1251:38910:16890,LH00995:25:23T55JLT4:8:1331:39961:1589,LH00995:25:23T55JLT4:8:1331:39970:1603,LH00995:25:23T55JLT4:8:1350:20926:16287,LH00995:25:23T55JLT4:8:1432:32446:14045,LH00995:25:23T55JLT4:8:1471:19089:3130,LH00995:25:23T55JLT4:8:2180:7836:18950,LH00995:25:23T55JLT4:8:2245:4770:8735,LH00995:25:23T55JLT4:8:2450:7173:20239,LH00995:25:23T55JLT4:8:2458:43748:2738,LH00995:25:23T55JLT4:8:2458:51393:17969,LH00995:25:23T55JLT4:8:2483:5053:8076,LH00995:25:23T55JLT4:5:1272:32559:17408,LH00995:25:23T55JLT4:5:2462:44913:2037,LH00995:25:23T55JLT4:6:2447:39800:24709,LH00995:25:23T55JLT4:8:2175:15724:16694 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 3 41 -/- -/- . 44 ENST00000330062 ENST00000394480 deletion 8.067986230636834e-05 0.01035615054306643 0.0052184152026863995 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IDH2--NTRK3 IDH2--NTRK3 IDH2--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IDH2 NTRK3 90102276 88184299 chr15:90102276-chr15:88184299 -,- STAR-Fusion 1 0 14 0.0686 14 PASS out-of-frame IDH2--NTRK3 IDH2--NTRK3 "[""INTRACHROMOSOMAL[chr15:1.83Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.6895 False False False GT AG 14 False 1 ENST00000560061.1 1-115 ENST00000626019.2 249-2595 0.0686 PASS atggccggctacctgcgggtcgtgcgctcgctctgcagagcctcaggctcgcggccggcctgggcgccggcggccctgacagcccccacctcgcaagagcagccgcggcgccactACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG chr15|-|[0]90102276-90102390[0]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYT*RTGAVFTRSTPWTWSSTPDFKS*PSRTQDFGAFSPEPLPRTPICVI*TCQVTGSPHSRGSSSRR*VFGNCSWSRTFSTAAVTSAGCSSGRSRGRPSSTARTSTASTLMAPSFLSSA*TSVSVTFLRSA*ATST*PYERVTTLLSLAMALDHPFLMWTG*SLGCSPSTLTRPI*TGPMFMPST*RW*M*RVRTMASP*RALQRTWWA*AMPVLPSLSTIPHVW*AWRSLSCAWSTASSLWCVATPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQRARITLSCLTK*VPHLLSL*PTNQKKTLLGYP*QLDLLLLPVSCWWFSSS*STNMVDGPNLE*RVPWLSSVVRRTQPAHCTTSTTASPRPRHWMPGPTLWSLA*LASLSLRTPSTSVRDTTATSRTRMCSTLRGETSC*SENWVREPLERSSWPSATTSARPRTRCLWL*RP*RIPPWLPGRISRGRPSCSPTCSMSTLSSSMECAAMGTPSSWSLNT*SMET*ISSSGPMGQMQ*SLWMDSHARPRVSWGSPKCSTLPVRSPRVWCTWPPSTLCTETWPPGTAWLERIC**RLGTSACPEMSTARIITGKGHARRARSVWCGSGRG*QQRQLPHSLIHLEMIFVYGVRWEDTPCSPFAGCLLKASCTGSSLQRVMYGASG*SSGRSSPMESSHGSNSQTRRSLSALPKVVFWSGPESAPKRCTMSCWGAGRGNHSSG*TSRRSTKSSMLWGRPPQSTWTFLA IDH2--NTRK3 14 LH00995:25:23T55JLT4:1:1296:37551:4503,LH00995:25:23T55JLT4:2:1253:24356:25311,LH00995:25:23T55JLT4:2:2213:41321:11425,LH00995:25:23T55JLT4:3:1104:41377:26236,LH00995:25:23T55JLT4:3:1174:45883:15993,LH00995:25:23T55JLT4:3:2281:50098:5582,LH00995:25:23T55JLT4:4:2125:31079:15909,LH00995:25:23T55JLT4:6:1427:3961:12294,LH00995:25:23T55JLT4:6:1490:13693:10963,LH00995:25:23T55JLT4:6:2377:51651:8581,LH00995:25:23T55JLT4:6:2381:12229:13247,LH00995:25:23T55JLT4:7:2427:12188:23125,LH00995:25:23T55JLT4:8:1465:42963:21500,LH00995:25:23T55JLT4:8:2478:4171:26390 YES_LDAS GT 1.6895 chr15:90102276:- IDH2^ENSG00000182054.10 . I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 FRAMESHIFT AG 1.8295 chr15:88184299:- NTRK3^ENSG00000140538.16 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr15:1.83Mb]""]" False chr15:90102276-chr15:88184299 14.0 0.0 14 1173_SK8 STAR-Fusion
fp_audit 1173_SK8 fusion IDH2--NTRK3 IDH2--NTRK3 IDH2--NTRK3 FP FP Arriba; STAR-Fusion dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IDH2 NTRK3 90102276 88184299 chr15:90102276-chr15:88184299 -,- STAR-Fusion 1 0 47 0.1593 47 PASS out-of-frame IDH2--NTRK3 IDH2--NTRK3 "[""INTRACHROMOSOMAL[chr15:1.83Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.6895 False False False GT AG 47 False 1 ENST00000560061.1 1-115 ENST00000626019.2 249-2595 0.1593 PASS atggccggctacctgcgggtcgtgcgctcgctctgcagagcctcaggctcgcggccggcctgggcgccggcggccctgacagcccccacctcgcaagagcagccgcggcgccactACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG chr15|-|[0]90102276-90102390[0]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYT*RTGAVFTRSTPWTWSSTPDFKS*PSRTQDFGAFSPEPLPRTPICVI*TCQVTGSPHSRGSSSRR*VFGNCSWSRTFSTAAVTSAGCSSGRSRGRPSSTARTSTASTLMAPSFLSSA*TSVSVTFLRSA*ATST*PYERVTTLLSLAMALDHPFLMWTG*SLGCSPSTLTRPI*TGPMFMPST*RW*M*RVRTMASP*RALQRTWWA*AMPVLPSLSTIPHVW*AWRSLSCAWSTASSLWCVATPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQRARITLSCLTK*VPHLLSL*PTNQKKTLLGYP*QLDLLLLPVSCWWFSSS*STNMVDGPNLE*RVPWLSSVVRRTQPAHCTTSTTASPRPRHWMPGPTLWSLA*LASLSLRTPSTSVRDTTATSRTRMCSTLRGETSC*SENWVREPLERSSWPSATTSARPRTRCLWL*RP*RIPPWLPGRISRGRPSCSPTCSMSTLSSSMECAAMGTPSSWSLNT*SMET*ISSSGPMGQMQ*SLWMDSHARPRVSWGSPKCSTLPVRSPRVWCTWPPSTLCTETWPPGTAWLERIC**RLGTSACPEMSTARIITGKGHARRARSVWCGSGRG*QQRQLPHSLIHLEMIFVYGVRWEDTPCSPFAGCLLKASCTGSSLQRVMYGASG*SSGRSSPMESSHGSNSQTRRSLSALPKVVFWSGPESAPKRCTMSCWGAGRGNHSSG*TSRRSTKSSMLWGRPPQSTWTFLA IDH2--NTRK3 47 LH00995:25:23T55JLT4:1:1123:6776:3382,LH00995:25:23T55JLT4:1:1180:37939:9940,LH00995:25:23T55JLT4:1:1278:25197:25367,LH00995:25:23T55JLT4:1:1330:13912:13751,LH00995:25:23T55JLT4:1:1396:32462:23770,LH00995:25:23T55JLT4:1:1397:48941:19524,LH00995:25:23T55JLT4:1:1451:36734:4125,LH00995:25:23T55JLT4:1:1464:27608:1771,LH00995:25:23T55JLT4:1:2113:8831:28296,LH00995:25:23T55JLT4:1:2115:18046:6955,LH00995:25:23T55JLT4:1:2329:7585:24989,LH00995:25:23T55JLT4:1:2374:15295:17633,LH00995:25:23T55JLT4:1:2446:21128:28912,LH00995:25:23T55JLT4:1:2473:11290:18880,LH00995:25:23T55JLT4:2:1229:24065:3760,LH00995:25:23T55JLT4:2:1267:15238:28997,LH00995:25:23T55JLT4:2:1310:5166:20827,LH00995:25:23T55JLT4:2:1394:40034:28478,LH00995:25:23T55JLT4:2:1437:27932:1378,LH00995:25:23T55JLT4:2:1488:7440:10052,LH00995:25:23T55JLT4:2:2219:2569:25606,LH00995:25:23T55JLT4:2:2450:40479:25774,LH00995:25:23T55JLT4:3:1482:3354:29347,LH00995:25:23T55JLT4:3:2168:18377:27651,LH00995:25:23T55JLT4:3:2177:11970:8651,LH00995:25:23T55JLT4:4:1229:11946:6563,LH00995:25:23T55JLT4:4:1436:40973:12140,LH00995:25:23T55JLT4:5:1191:27891:19412,LH00995:25:23T55JLT4:5:1272:32559:17408,LH00995:25:23T55JLT4:5:1337:43561:6843,LH00995:25:23T55JLT4:5:1443:33368:6535,LH00995:25:23T55JLT4:5:2153:48893:20645,LH00995:25:23T55JLT4:5:2277:32858:2289,LH00995:25:23T55JLT4:5:2462:44913:2037,LH00995:25:23T55JLT4:5:2466:47971:19076,LH00995:25:23T55JLT4:6:1108:5886:13359,LH00995:25:23T55JLT4:6:1139:8483:1070,LH00995:25:23T55JLT4:6:1373:17156:22509,LH00995:25:23T55JLT4:6:1378:15352:25325,LH00995:25:23T55JLT4:6:2253:28943:14031,LH00995:25:23T55JLT4:6:2447:39800:24709,LH00995:25:23T55JLT4:6:2466:36070:12840,LH00995:25:23T55JLT4:6:2484:21104:16932,LH00995:25:23T55JLT4:8:1331:39961:1589,LH00995:25:23T55JLT4:8:2180:7836:18950,LH00995:25:23T55JLT4:8:2450:7173:20239,LH00995:25:23T55JLT4:8:2483:5053:8076 YES_LDAS GT 1.6895 chr15:90102276:- IDH2^ENSG00000182054.10 . I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 FRAMESHIFT AG 1.8295 chr15:88184299:- NTRK3^ENSG00000140538.16 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr15:1.83Mb]""]" False chr15:90102276-chr15:88184299 47.0 0.0 47 1173_SK8 STAR-Fusion
fp_audit 1173_SK8 fusion IGF1R--MYC IGF1R--MYC IGF1R--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 IGF1R MYC 98649675 127738248 chr15:98649675-chr8:127738248 +,+ Arriba 1 0 5 5 PASS out-of-frame IGF1R--MYC IGF1R--MYC confidence:medium;duplicates(3) medium translocation CDS/splice-site CDS/splice-site 65535 65535 3.0 0.0 0.0 0.0 4 1 False duplicates(3) FAIL False chr15:98649675 chr8:127738248 chr15:98649675-chr8:127738248 . . medium 65535 65535 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(5.0<8.0) duplicates(3) AATGAAGTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|CAGCCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCG IGF1R MYC ENSG00000140443 ENSG00000136997 MKSGSGGGSPTSLWGLLFLSAALSLWPTSGE|tasrddapqr* LH00995:25:23T55JLT4:6:1361:38271:16371,LH00995:25:23T55JLT4:2:1305:34493:6409,LH00995:25:23T55JLT4:3:1342:37761:1308,LH00995:25:23T55JLT4:4:1203:5903:16778,LH00995:25:23T55JLT4:4:1234:46709:5540,LH00995:25:23T55JLT4:5:1130:20529:25886,LH00995:25:23T55JLT4:5:2298:17164:11257,LH00995:25:23T55JLT4:8:2354:50745:14690 out-of-frame |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) CDS/splice-site CDS/splice-site 4 1 +/+ +/+ . 5 ENST00000650285 ENST00000621592 translocation 6.103236241016799e-05 1.52587890625e-05 3.8145575736333996e-05 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--MYC IGF1R--MYC IGF1R--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 IGF1R MYC 98649675 127738251 chr15:98649675-chr8:127738251 +,+ Arriba 1 0 2 2 PASS out-of-frame IGF1R--MYC IGF1R--MYC confidence:medium;duplicates(1) medium translocation CDS/splice-site CDS/splice-site 65535 65535 1.0 0.0 0.0 0.0 1 1 False duplicates(1) FAIL False chr15:98649675 chr8:127738251 chr15:98649675-chr8:127738251 . . medium 65535 65535 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(2.0<8.0) duplicates(1) GTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|CCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCGACTACGACTCGGT IGF1R MYC ENSG00000140443 ENSG00000136997 FLSAALSLWPTSGE|tsrddapqr* LH00995:25:23T55JLT4:5:2405:49710:6058,LH00995:25:23T55JLT4:6:2303:13394:20897,LH00995:25:23T55JLT4:8:2431:44273:11075 out-of-frame |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) CDS/splice-site CDS/splice-site 1 1 +/+ +/+ . 2 ENST00000650285 ENST00000524013 translocation 1.52587890625e-05 1.52587890625e-05 1.52587890625e-05 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--MYC IGF1R--MYC IGF1R--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 IGF1R MYC 98708107 127740396 chr15:98708107-chr8:127740396 +,+ Arriba 1 0 1 1 PASS in-frame IGF1R--MYC IGF1R--MYC confidence:low;duplicates(2) low translocation CDS/splice-site CDS/splice-site 65535 65535 2.0 0.0 0.0 0.0 0 1 True duplicates(2) FAIL False chr15:98708107 chr8:127740396 chr15:98708107-chr8:127740396 . . low 65535 65535 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) GGGACCTGTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA|AGGAGGAACAAGAAGATGAGGAAGAAATCGATGTTGTTTCTGTGGAAAgGAGGCAGGCTCCTGGCAAAAGGTCAGAGTCTGGATCACCTTCTGCTGGAGGCCACAGCAAACCTCC IGF1R MYC ENSG00000140443 ENSG00000136997 DLCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQK|kEEQEDEEEIDVVSVErRQAPGKRSESGSPSAGGHSKP LH00995:25:23T55JLT4:4:1201:37081:26446,LH00995:25:23T55JLT4:6:1217:43327:27371,LH00995:25:23T55JLT4:6:1217:43335:27385 in-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(26%),Myc_leucine_zipper_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ +/+ . 1 ENST00000650285 ENST00000651626 translocation 0.0 1.52587890625e-05 7.62939453125e-06 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--MYC IGF1R--MYC IGF1R--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 IGF1R MYC 98649675 127738248 chr15:98649675-chr8:127738248 +,+ Arriba 1 0 5 5 PASS out-of-frame IGF1R--MYC IGF1R--MYC confidence:medium;duplicates(3) medium translocation CDS/splice-site CDS/splice-site 65535 65535 3.0 0.0 0.0 0.0 4 1 False duplicates(3) FAIL False chr15:98649675 chr8:127738248 chr15:98649675-chr8:127738248 . . medium 65535 65535 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(5.0<8.0) duplicates(3) AATGAAGTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|CAGCCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCG IGF1R MYC ENSG00000140443 ENSG00000136997 MKSGSGGGSPTSLWGLLFLSAALSLWPTSGE|tasrddapqr* LH00995:25:23T55JLT4:6:1361:38271:16371,LH00995:25:23T55JLT4:2:1305:34493:6409,LH00995:25:23T55JLT4:3:1342:37761:1308,LH00995:25:23T55JLT4:4:1203:5903:16778,LH00995:25:23T55JLT4:4:1234:46709:5540,LH00995:25:23T55JLT4:5:1130:20529:25886,LH00995:25:23T55JLT4:5:2298:17164:11257,LH00995:25:23T55JLT4:8:2354:50745:14690 out-of-frame |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) CDS/splice-site CDS/splice-site 4 1 +/+ +/+ . 5 ENST00000650285 ENST00000621592 translocation 6.103236241016799e-05 1.52587890625e-05 3.8145575736333996e-05 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--MYC IGF1R--MYC IGF1R--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 IGF1R MYC 98649675 127738251 chr15:98649675-chr8:127738251 +,+ Arriba 1 0 2 2 PASS out-of-frame IGF1R--MYC IGF1R--MYC confidence:medium;duplicates(1) medium translocation CDS/splice-site CDS/splice-site 65535 65535 1.0 0.0 0.0 0.0 1 1 False duplicates(1) FAIL False chr15:98649675 chr8:127738251 chr15:98649675-chr8:127738251 . . medium 65535 65535 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(2.0<8.0) duplicates(1) GTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|CCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCGACTACGACTCGGT IGF1R MYC ENSG00000140443 ENSG00000136997 FLSAALSLWPTSGE|tsrddapqr* LH00995:25:23T55JLT4:5:2405:49710:6058,LH00995:25:23T55JLT4:6:2303:13394:20897,LH00995:25:23T55JLT4:8:2431:44273:11075 out-of-frame |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) CDS/splice-site CDS/splice-site 1 1 +/+ +/+ . 2 ENST00000650285 ENST00000524013 translocation 1.52587890625e-05 1.52587890625e-05 1.52587890625e-05 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--MYC IGF1R--MYC IGF1R--MYC FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 IGF1R MYC 98708107 127740396 chr15:98708107-chr8:127740396 +,+ Arriba 1 0 1 1 PASS in-frame IGF1R--MYC IGF1R--MYC confidence:low;duplicates(2) low translocation CDS/splice-site CDS/splice-site 65535 65535 2.0 0.0 0.0 0.0 0 1 True duplicates(2) FAIL False chr15:98708107 chr8:127740396 chr15:98708107-chr8:127740396 . . low 65535 65535 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) GGGACCTGTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA|AGGAGGAACAAGAAGATGAGGAAGAAATCGATGTTGTTTCTGTGGAAAgGAGGCAGGCTCCTGGCAAAAGGTCAGAGTCTGGATCACCTTCTGCTGGAGGCCACAGCAAACCTCC IGF1R MYC ENSG00000140443 ENSG00000136997 DLCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQK|kEEQEDEEEIDVVSVErRQAPGKRSESGSPSAGGHSKP LH00995:25:23T55JLT4:4:1201:37081:26446,LH00995:25:23T55JLT4:6:1217:43327:27371,LH00995:25:23T55JLT4:6:1217:43335:27385 in-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(26%),Myc_leucine_zipper_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ +/+ . 1 ENST00000650285 ENST00000651626 translocation 0.0 1.52587890625e-05 7.62939453125e-06 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98708107 88184299 chr15:98708107-chr15:88184299 +,- Arriba 1 0 18 18 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(18) medium inversion CDS/splice-site CDS/splice-site 65535 3918 18.0 0.0 0.0 0.0 4 14 False duplicates(18) FAIL False chr15:98708107 chr15:88184299 chr15:98708107-chr15:88184299 . . medium 65535 3918 downstream downstream 0 confidence_below_min(medium<high) duplicates(18) AAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCC IGF1R NTRK3 ENSG00000140443 ENSG00000140538 KPMCEKTTINNEYNYRCWTTNRCQK|nt* LH00995:25:23T55JLT4:1:1110:22123:17268,LH00995:25:23T55JLT4:1:1250:44524:6801,LH00995:25:23T55JLT4:1:1413:29275:20743,LH00995:25:23T55JLT4:1:2112:8661:27105,LH00995:25:23T55JLT4:1:2209:14478:13779,LH00995:25:23T55JLT4:1:2409:12455:20281,LH00995:25:23T55JLT4:1:2437:30723:6577,LH00995:25:23T55JLT4:2:1296:9511:14116,LH00995:25:23T55JLT4:2:2305:45042:3999,LH00995:25:23T55JLT4:2:2465:4940:20968,LH00995:25:23T55JLT4:3:1183:9697:18726,LH00995:25:23T55JLT4:3:1187:34161:8076,LH00995:25:23T55JLT4:3:1213:9810:22397,LH00995:25:23T55JLT4:3:2279:9810:7432,LH00995:25:23T55JLT4:3:2313:39411:2569,LH00995:25:23T55JLT4:4:1248:30650:27133,LH00995:25:23T55JLT4:4:1293:6040:12056,LH00995:25:23T55JLT4:5:1181:25310:21248,LH00995:25:23T55JLT4:5:1344:16492:13709,LH00995:25:23T55JLT4:5:1377:44832:26110,LH00995:25:23T55JLT4:5:2103:41256:23167,LH00995:25:23T55JLT4:5:2185:33498:11579,LH00995:25:23T55JLT4:6:1158:45811:8609,LH00995:25:23T55JLT4:6:2293:17269:2331,LH00995:25:23T55JLT4:8:1222:27883:12616,LH00995:25:23T55JLT4:8:1366:37753:10038,LH00995:25:23T55JLT4:8:2147:3427:6157,LH00995:25:23T55JLT4:1:2161:11833:7684,LH00995:25:23T55JLT4:1:2491:29242:1350,LH00995:25:23T55JLT4:3:2201:21751:22509,LH00995:25:23T55JLT4:3:2366:18960:10052,LH00995:25:23T55JLT4:6:1140:11897:4685,LH00995:25:23T55JLT4:6:1215:10360:22032,LH00995:25:23T55JLT4:6:1392:13871:13989,LH00995:25:23T55JLT4:6:1392:13879:14003,LH00995:25:23T55JLT4:8:1358:21144:20897 out-of-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 4 14 +/+ -/- . 18 ENST00000650285 ENST00000394480 inversion 6.103236241016799e-05 0.003560528992878942 0.0018107806776445552 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98649675 88184299 chr15:98649675-chr15:88184299 +,- Arriba 1 0 7 7 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(11),mismatches(1) medium inversion CDS/splice-site CDS/splice-site 65535 3918 11.0 1.0 0.0 0.0 1 6 False duplicates(11),mismatches(1) FAIL False chr15:98649675 chr15:88184299 chr15:98649675-chr15:88184299 . . medium 65535 3918 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(7.0<8.0) duplicates(11),mismatches(1) AGTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAA IGF1R NTRK3 ENSG00000140443 ENSG00000140538 SGSGGGSPTSLWGLLFLSAALSLWPTSGE|nt* LH00995:25:23T55JLT4:1:1116:23353:16596,LH00995:25:23T55JLT4:1:1361:24145:29431,LH00995:25:23T55JLT4:1:2278:32721:20575,LH00995:25:23T55JLT4:2:1147:16233:2191,LH00995:25:23T55JLT4:2:1153:16929:3424,LH00995:25:23T55JLT4:2:1204:51668:8553,LH00995:25:23T55JLT4:2:1248:6849:14634,LH00995:25:23T55JLT4:2:1314:38271:19146,LH00995:25:23T55JLT4:3:1280:46644:26811,LH00995:25:23T55JLT4:5:1492:49184:20505,LH00995:25:23T55JLT4:6:1285:45050:7376,LH00995:25:23T55JLT4:6:1322:44403:28646,LH00995:25:23T55JLT4:6:1324:37615:23392,LH00995:25:23T55JLT4:6:2202:32680:22803,LH00995:25:23T55JLT4:8:2170:51749:3452,LH00995:25:23T55JLT4:8:2201:22649:12406,LH00995:25:23T55JLT4:8:2209:18927:18347,LH00995:25:23T55JLT4:8:2449:7674:11047,LH00995:25:23T55JLT4:3:2132:40301:11958 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 6 +/+ -/- . 7 ENST00000650285 ENST00000394480 inversion 1.52587890625e-05 0.0015290519877675841 0.0007721553884150421 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98708107 88147403 chr15:98708107-chr15:88147403 +,- Arriba 1 0 4 4 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(1),mismatches(1) medium inversion CDS/splice-site CDS/splice-site 65535 1549 1.0 1.0 0.0 0.0 2 2 False duplicates(1),mismatches(1) FAIL False chr15:98708107 chr15:88147403 chr15:98708107-chr15:88147403 . . medium 65535 1549 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(1),mismatches(1) GTGGGGACCTGTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA|AAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATT___GCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCC IGF1R NTRK3 ENSG00000140443 ENSG00000140538 GDLCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQK|ktcqvtgsphsrgsssrr* LH00995:25:23T55JLT4:1:2115:48602:23588,LH00995:25:23T55JLT4:5:1234:19631:27637,LH00995:25:23T55JLT4:6:1341:15708:6549,LH00995:25:23T55JLT4:6:2319:8629:3004,LH00995:25:23T55JLT4:1:2219:15910:13009,LH00995:25:23T55JLT4:8:1491:36394:18585 out-of-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(49%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 2 2 +/+ -/- . 4 ENST00000650285 ENST00000394480 inversion 3.051711247081801e-05 0.0012894906511927789 0.0006600038818317985 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98948708 88184299 chr15:98948708-chr15:88184299 +,- Arriba 1 0 5 5 PASS in-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low;duplicates(9) low inversion CDS/splice-site CDS/splice-site 48801 3918 9.0 0.0 0.0 0.0 0 5 True duplicates(9) FAIL False chr15:98948708 chr15:88184299 chr15:98948708-chr15:88184299 . . low 48801 3918 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(5.0<8.0) duplicates(9) CGCCACACTGGCCGAGCAGCCCTACCAGGGCTTGTCCAACGAGCAAGTCCTTCGCTTCGTCATGGAGGGCGGCCTTCTGGACAAGCCAGACAACTGTCCTGACATGCT|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCC IGF1R NTRK3 ENSG00000140443 ENSG00000140538 ATLAEQPYQGLSNEQVLRFVMEGGLLDKPDNCPDMl|HIENWRSLHTLNAVDMELYTGLQKLTIKNSGLRSIQPRAFAKN LH00995:25:23T55JLT4:2:1482:15214:28842,LH00995:25:23T55JLT4:2:1482:15230:28842,LH00995:25:23T55JLT4:3:1225:4697:21584,LH00995:25:23T55JLT4:3:1274:12294:19833,LH00995:25:23T55JLT4:3:1495:6671:10626,LH00995:25:23T55JLT4:3:2252:15967:14144,LH00995:25:23T55JLT4:5:1270:50915:3802,LH00995:25:23T55JLT4:6:1227:49216:26586,LH00995:25:23T55JLT4:6:2134:6412:13877,LH00995:25:23T55JLT4:6:2383:17633:9183,LH00995:25:23T55JLT4:6:2483:36183:17464,LH00995:25:23T55JLT4:8:1288:41304:6885,LH00995:25:23T55JLT4:8:1296:26063:2261,LH00995:25:23T55JLT4:8:1409:25076:11733 in-frame Furin-like_cysteine_rich_region(100%),Protein_kinase_domain(90%),Receptor_L_domain(100%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 5 +/+ -/- . 5 ENST00000650285 ENST00000394480 inversion 0.0 0.0012745347947998981 0.0006372673973999491 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98708107 88127226 chr15:98708107-chr15:88127226 +,- Arriba 1 0 2 2 PASS in-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low;duplicates(2) low inversion CDS/splice-site CDS/splice-site 65535 2690 2.0 0.0 0.0 0.0 0 2 True duplicates(2) FAIL False chr15:98708107 chr15:88127226 chr15:98708107-chr15:88127226 . . low 65535 2690 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(2) CGCTGCTGGACCACAAACCGCTGCCAGAAAA|TTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGG___GTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTC IGF1R NTRK3 ENSG00000140443 ENSG00000140538 RCWTTNRCQK|iDEVSPTPPITVTHKPEEDTFGVSIAVGLAAFACVLLVVLF LH00995:25:23T55JLT4:1:1330:41952:1645,LH00995:25:23T55JLT4:8:1139:37001:9716,LH00995:25:23T55JLT4:8:1313:15109:19048,LH00995:25:23T55JLT4:8:2401:7003:9519 in-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 2 +/+ -/- . 2 ENST00000650285 ENST00000394480 inversion 0.0 0.0007429420505200594 0.0003714710252600297 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98708107 88126373 chr15:98708107-chr15:88126373 +,- Arriba 1 0 1 1 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low;duplicates(2) low inversion CDS/splice-site CDS/splice-site 65535 1161 2.0 0.0 0.0 0.0 0 1 False duplicates(2) FAIL False chr15:98708107 chr15:88126373 chr15:98708107-chr15:88126373 . . low 65535 1161 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) CAAACCGCTGCCAGAAAA|GTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGAC IGF1R NTRK3 ENSG00000140443 ENSG00000140538 NRCQK|sihsswtccfclcpvggslrhdqqiws LH00995:25:23T55JLT4:2:2159:46005:13905,LH00995:25:23T55JLT4:4:1448:48076:2527,LH00995:25:23T55JLT4:6:1420:22875:12042 out-of-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000650285 ENST00000394480 inversion 0.0 0.0008605851979345956 0.0004302925989672978 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98708107 88184299 chr15:98708107-chr15:88184299 +,- Arriba 1 0 15 15 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(20) medium inversion CDS/splice-site CDS/splice-site 56359 1846 20.0 0.0 0.0 0.0 9 6 False duplicates(20) FAIL False chr15:98708107 chr15:88184299 chr15:98708107-chr15:88184299 . . medium 56359 1846 downstream downstream 0 confidence_below_min(medium<high) duplicates(20) TGGGGACCTGTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGA IGF1R NTRK3 ENSG00000140443 ENSG00000140538 GDLCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQK|nt* LH00995:25:23T55JLT4:1:2434:7229:6689,LH00995:25:23T55JLT4:2:2497:20351:16638,LH00995:25:23T55JLT4:3:1184:14446:6241,LH00995:25:23T55JLT4:3:2218:25480:26138,LH00995:25:23T55JLT4:3:2319:44832:9211,LH00995:25:23T55JLT4:4:2439:11930:26628,LH00995:25:23T55JLT4:6:1397:11048:23588,LH00995:25:23T55JLT4:6:1452:22859:20001,LH00995:25:23T55JLT4:7:1123:30173:17254,LH00995:25:23T55JLT4:7:1266:50794:26516,LH00995:25:23T55JLT4:8:1217:16347:3873,LH00995:25:23T55JLT4:8:1234:37065:20477,LH00995:25:23T55JLT4:8:1457:11137:14578,LH00995:25:23T55JLT4:8:2137:13451:5386,LH00995:25:23T55JLT4:8:2234:10255:20393,LH00995:25:23T55JLT4:8:2234:10263:20379,LH00995:25:23T55JLT4:8:2369:42032:8707,LH00995:25:23T55JLT4:1:1307:5166:12364,LH00995:25:23T55JLT4:1:1414:25367:12910,LH00995:25:23T55JLT4:1:2327:40528:12378,LH00995:25:23T55JLT4:2:1310:10295:23770,LH00995:25:23T55JLT4:2:2170:4802:24737,LH00995:25:23T55JLT4:2:2172:5450:3915,LH00995:25:23T55JLT4:3:1219:4341:9141,LH00995:25:23T55JLT4:3:1254:15538:2583,LH00995:25:23T55JLT4:3:2185:41588:8833,LH00995:25:23T55JLT4:3:2494:14753:1560,LH00995:25:23T55JLT4:4:2414:41232:23910,LH00995:25:23T55JLT4:5:1316:14227:6451,LH00995:25:23T55JLT4:5:2257:26548:12574,LH00995:25:23T55JLT4:6:2164:16598:3802,LH00995:25:23T55JLT4:7:2229:18377:20589,LH00995:25:23T55JLT4:7:2352:35649:24807,LH00995:25:23T55JLT4:8:1408:2497:9730,LH00995:25:23T55JLT4:8:1478:29986:6591 out-of-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 9 6 +/+ -/- . 15 ENST00000650285 ENST00000394480 inversion 0.00015966505818904342 0.0032397408207343412 0.0016997029394616922 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98649675 88184299 chr15:98649675-chr15:88184299 +,- Arriba 1 0 6 6 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(6) medium inversion CDS/splice-site CDS/splice-site 65535 1846 6.0 0.0 0.0 0.0 1 5 False duplicates(6) FAIL False chr15:98649675 chr15:88184299 chr15:98649675-chr15:88184299 . . medium 65535 1846 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(6.0<8.0) duplicates(6) AATGAAGTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCA IGF1R NTRK3 ENSG00000140443 ENSG00000140538 MKSGSGGGSPTSLWGLLFLSAALSLWPTSGE|nt* LH00995:25:23T55JLT4:1:1372:12197:8398,LH00995:25:23T55JLT4:1:2253:23854:7880,LH00995:25:23T55JLT4:1:2492:3362:15180,LH00995:25:23T55JLT4:2:2467:40568:28198,LH00995:25:23T55JLT4:3:1345:46984:28016,LH00995:25:23T55JLT4:4:1448:7051:19468,LH00995:25:23T55JLT4:4:2354:23555:8987,LH00995:25:23T55JLT4:5:1145:45964:20393,LH00995:25:23T55JLT4:7:1149:22147:13471,LH00995:25:23T55JLT4:7:2293:4624:4279,LH00995:25:23T55JLT4:2:1498:24170:10697,LH00995:25:23T55JLT4:7:1232:29873:8188 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 5 +/+ -/- . 6 ENST00000650285 ENST00000394480 inversion 1.52587890625e-05 0.002701242571582928 0.001358250680322714 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98708107 88147403 chr15:98708107-chr15:88147403 +,- Arriba 1 0 3 3 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(2) medium inversion CDS/splice-site CDS/splice-site 56359 1075 2.0 0.0 0.0 0.0 2 1 False duplicates(2) FAIL False chr15:98708107 chr15:88147403 chr15:98708107-chr15:88147403 . . medium 56359 1075 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(2) TGTTACCTCTCCACTGTGGACTGGTCCCTGATCCTGGATGCGGTGTCCAATAACTACATTGTGGGGAATAAGCCCCCAAAGGAATGTGGGGACCTGTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA|AAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTaCG IGF1R NTRK3 ENSG00000140443 ENSG00000140538 CYLSTVDWSLILDAVSNNYIVGNKPPKECGDLCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQK|ktcqvtgsphsrgsssrr* LH00995:25:23T55JLT4:1:2147:48618:2149,LH00995:25:23T55JLT4:5:2287:9697:4237,LH00995:25:23T55JLT4:3:2142:6517:2569,LH00995:25:23T55JLT4:4:1367:32923:19048,LH00995:25:23T55JLT4:4:1495:45794:28534 out-of-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(49%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 2 1 +/+ -/- . 3 ENST00000650285 ENST00000394480 inversion 3.5485530774826566e-05 0.0009293680297397769 0.00048242678025730174 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98708107 88127226 chr15:98708107-chr15:88127226 +,- Arriba 1 0 1 1 PASS in-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 56359 2049 0 1 True FAIL False chr15:98708107 chr15:88127226 chr15:98708107-chr15:88127226 . . low 56359 2049 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CCACAAACCGCTGCCAGAAAA|TTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGG IGF1R NTRK3 ENSG00000140443 ENSG00000140538 TNRCQK|iDEVSPTPPITVTHKPEEDTF LH00995:25:23T55JLT4:5:2130:30779:21976 in-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000650285 ENST00000394480 inversion 0.0 0.0004878048780487805 0.00024390243902439024 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98649675 88136040 chr15:98649675-chr15:88136040 +,- Arriba 1 0 1 1 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 65535 776 0 1 False FAIL False chr15:98649675 chr15:88136040 chr15:98649675-chr15:88136040 . . low 65535 776 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|ACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATgGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCT IGF1R NTRK3 ENSG00000140443 ENSG00000140538 PTSLWGLLFLSAALSLWPTSGE|nqseldqcschqldagecde* LH00995:25:23T55JLT4:8:1222:28733:20449 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(51%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000650285 ENST00000394480 inversion 0.0 0.001287001287001287 0.0006435006435006435 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98649675 88147403 chr15:98649675-chr15:88147403 +,- Arriba 1 0 1 1 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 65535 1075 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr15:98649675 chr15:88147403 chr15:98649675-chr15:88147403 . . low 65535 1075 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|AAACCTGTCAAGTAACCGGCTCACCACACTCTCGT IGF1R NTRK3 ENSG00000140443 ENSG00000140538 SGSGGGSPTSLWGLLFLSAALSLWPTSGE|ktcqvtgsphs LH00995:25:23T55JLT4:8:2343:3338:24975,LH00995:25:23T55JLT4:8:2343:3346:24989 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(49%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000650285 ENST00000394480 inversion 1.52587890625e-05 0.0 7.62939453125e-06 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98948708 88184299 chr15:98948708-chr15:88184299 +,- Arriba 1 0 1 1 PASS in-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 38845 1846 0 1 True FAIL False chr15:98948708 chr15:88184299 chr15:98948708-chr15:88184299 . . low 38845 1846 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CAGACAACTGTCCTGACATGCT|ACACATAGAGAACTGGCGCAGTCTTCACAtGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAG IGF1R NTRK3 ENSG00000140443 ENSG00000140538 DNCPDMl|HIENWRSLHmLNAVDMELYTGLQ LH00995:25:23T55JLT4:8:2162:23118:28604 in-frame Furin-like_cysteine_rich_region(100%),Protein_kinase_domain(90%),Receptor_L_domain(100%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000650285 ENST00000394480 inversion 0.0 0.0005414185165132648 0.0002707092582566324 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98708107 88184299 chr15:98708107-chr15:88184299 +,- Arriba 1 0 15 15 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(20) medium inversion CDS/splice-site CDS/splice-site 56359 1846 20.0 0.0 0.0 0.0 9 6 False duplicates(20) FAIL False chr15:98708107 chr15:88184299 chr15:98708107-chr15:88184299 . . medium 56359 1846 downstream downstream 0 confidence_below_min(medium<high) duplicates(20) TGGGGACCTGTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGA IGF1R NTRK3 ENSG00000140443 ENSG00000140538 GDLCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQK|nt* LH00995:25:23T55JLT4:1:2434:7229:6689,LH00995:25:23T55JLT4:2:2497:20351:16638,LH00995:25:23T55JLT4:3:1184:14446:6241,LH00995:25:23T55JLT4:3:2218:25480:26138,LH00995:25:23T55JLT4:3:2319:44832:9211,LH00995:25:23T55JLT4:4:2439:11930:26628,LH00995:25:23T55JLT4:6:1397:11048:23588,LH00995:25:23T55JLT4:6:1452:22859:20001,LH00995:25:23T55JLT4:7:1123:30173:17254,LH00995:25:23T55JLT4:7:1266:50794:26516,LH00995:25:23T55JLT4:8:1217:16347:3873,LH00995:25:23T55JLT4:8:1234:37065:20477,LH00995:25:23T55JLT4:8:1457:11137:14578,LH00995:25:23T55JLT4:8:2137:13451:5386,LH00995:25:23T55JLT4:8:2234:10255:20393,LH00995:25:23T55JLT4:8:2234:10263:20379,LH00995:25:23T55JLT4:8:2369:42032:8707,LH00995:25:23T55JLT4:1:1307:5166:12364,LH00995:25:23T55JLT4:1:1414:25367:12910,LH00995:25:23T55JLT4:1:2327:40528:12378,LH00995:25:23T55JLT4:2:1310:10295:23770,LH00995:25:23T55JLT4:2:2170:4802:24737,LH00995:25:23T55JLT4:2:2172:5450:3915,LH00995:25:23T55JLT4:3:1219:4341:9141,LH00995:25:23T55JLT4:3:1254:15538:2583,LH00995:25:23T55JLT4:3:2185:41588:8833,LH00995:25:23T55JLT4:3:2494:14753:1560,LH00995:25:23T55JLT4:4:2414:41232:23910,LH00995:25:23T55JLT4:5:1316:14227:6451,LH00995:25:23T55JLT4:5:2257:26548:12574,LH00995:25:23T55JLT4:6:2164:16598:3802,LH00995:25:23T55JLT4:7:2229:18377:20589,LH00995:25:23T55JLT4:7:2352:35649:24807,LH00995:25:23T55JLT4:8:1408:2497:9730,LH00995:25:23T55JLT4:8:1478:29986:6591 out-of-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 9 6 +/+ -/- . 15 ENST00000650285 ENST00000394480 inversion 0.00015966505818904342 0.0032397408207343412 0.0016997029394616922 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98649675 88184299 chr15:98649675-chr15:88184299 +,- Arriba 1 0 6 6 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(6) medium inversion CDS/splice-site CDS/splice-site 65535 1846 6.0 0.0 0.0 0.0 1 5 False duplicates(6) FAIL False chr15:98649675 chr15:88184299 chr15:98649675-chr15:88184299 . . medium 65535 1846 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(6.0<8.0) duplicates(6) AATGAAGTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCA IGF1R NTRK3 ENSG00000140443 ENSG00000140538 MKSGSGGGSPTSLWGLLFLSAALSLWPTSGE|nt* LH00995:25:23T55JLT4:1:1372:12197:8398,LH00995:25:23T55JLT4:1:2253:23854:7880,LH00995:25:23T55JLT4:1:2492:3362:15180,LH00995:25:23T55JLT4:2:2467:40568:28198,LH00995:25:23T55JLT4:3:1345:46984:28016,LH00995:25:23T55JLT4:4:1448:7051:19468,LH00995:25:23T55JLT4:4:2354:23555:8987,LH00995:25:23T55JLT4:5:1145:45964:20393,LH00995:25:23T55JLT4:7:1149:22147:13471,LH00995:25:23T55JLT4:7:2293:4624:4279,LH00995:25:23T55JLT4:2:1498:24170:10697,LH00995:25:23T55JLT4:7:1232:29873:8188 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 5 +/+ -/- . 6 ENST00000650285 ENST00000394480 inversion 1.52587890625e-05 0.002701242571582928 0.001358250680322714 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98708107 88147403 chr15:98708107-chr15:88147403 +,- Arriba 1 0 3 3 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(2) medium inversion CDS/splice-site CDS/splice-site 56359 1075 2.0 0.0 0.0 0.0 2 1 False duplicates(2) FAIL False chr15:98708107 chr15:88147403 chr15:98708107-chr15:88147403 . . medium 56359 1075 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(2) TGTTACCTCTCCACTGTGGACTGGTCCCTGATCCTGGATGCGGTGTCCAATAACTACATTGTGGGGAATAAGCCCCCAAAGGAATGTGGGGACCTGTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA|AAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTaCG IGF1R NTRK3 ENSG00000140443 ENSG00000140538 CYLSTVDWSLILDAVSNNYIVGNKPPKECGDLCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQK|ktcqvtgsphsrgsssrr* LH00995:25:23T55JLT4:1:2147:48618:2149,LH00995:25:23T55JLT4:5:2287:9697:4237,LH00995:25:23T55JLT4:3:2142:6517:2569,LH00995:25:23T55JLT4:4:1367:32923:19048,LH00995:25:23T55JLT4:4:1495:45794:28534 out-of-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(49%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 2 1 +/+ -/- . 3 ENST00000650285 ENST00000394480 inversion 3.5485530774826566e-05 0.0009293680297397769 0.00048242678025730174 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98708107 88127226 chr15:98708107-chr15:88127226 +,- Arriba 1 0 1 1 PASS in-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 56359 2049 0 1 True FAIL False chr15:98708107 chr15:88127226 chr15:98708107-chr15:88127226 . . low 56359 2049 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CCACAAACCGCTGCCAGAAAA|TTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGG IGF1R NTRK3 ENSG00000140443 ENSG00000140538 TNRCQK|iDEVSPTPPITVTHKPEEDTF LH00995:25:23T55JLT4:5:2130:30779:21976 in-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000650285 ENST00000394480 inversion 0.0 0.0004878048780487805 0.00024390243902439024 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98649675 88136040 chr15:98649675-chr15:88136040 +,- Arriba 1 0 1 1 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 65535 776 0 1 False FAIL False chr15:98649675 chr15:88136040 chr15:98649675-chr15:88136040 . . low 65535 776 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|ACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATgGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCT IGF1R NTRK3 ENSG00000140443 ENSG00000140538 PTSLWGLLFLSAALSLWPTSGE|nqseldqcschqldagecde* LH00995:25:23T55JLT4:8:1222:28733:20449 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(51%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000650285 ENST00000394480 inversion 0.0 0.001287001287001287 0.0006435006435006435 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98649675 88147403 chr15:98649675-chr15:88147403 +,- Arriba 1 0 1 1 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low;duplicates(1) low inversion CDS/splice-site CDS/splice-site 65535 1075 1.0 0.0 0.0 0.0 1 0 False duplicates(1) FAIL False chr15:98649675 chr15:88147403 chr15:98649675-chr15:88147403 . . low 65535 1075 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(1) GTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|AAACCTGTCAAGTAACCGGCTCACCACACTCTCGT IGF1R NTRK3 ENSG00000140443 ENSG00000140538 SGSGGGSPTSLWGLLFLSAALSLWPTSGE|ktcqvtgsphs LH00995:25:23T55JLT4:8:2343:3338:24975,LH00995:25:23T55JLT4:8:2343:3346:24989 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(49%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000650285 ENST00000394480 inversion 1.52587890625e-05 0.0 7.62939453125e-06 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 IGF1R NTRK3 98948708 88184299 chr15:98948708-chr15:88184299 +,- Arriba 1 0 1 1 PASS in-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 38845 1846 0 1 True FAIL False chr15:98948708 chr15:88184299 chr15:98948708-chr15:88184299 . . low 38845 1846 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CAGACAACTGTCCTGACATGCT|ACACATAGAGAACTGGCGCAGTCTTCACAtGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAG IGF1R NTRK3 ENSG00000140443 ENSG00000140538 DNCPDMl|HIENWRSLHmLNAVDMELYTGLQ LH00995:25:23T55JLT4:8:2162:23118:28604 in-frame Furin-like_cysteine_rich_region(100%),Protein_kinase_domain(90%),Receptor_L_domain(100%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000650285 ENST00000394480 inversion 0.0 0.0005414185165132648 0.0002707092582566324 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98708107 88184299 chr15:98708107-chr15:88184299 +,- Arriba 1 0 18 18 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(18) medium inversion CDS/splice-site CDS/splice-site 65535 3918 18.0 0.0 0.0 0.0 4 14 False duplicates(18) FAIL False chr15:98708107 chr15:88184299 chr15:98708107-chr15:88184299 . . medium 65535 3918 downstream downstream 0 confidence_below_min(medium<high) duplicates(18) AAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCC IGF1R NTRK3 ENSG00000140443 ENSG00000140538 KPMCEKTTINNEYNYRCWTTNRCQK|nt* LH00995:25:23T55JLT4:1:1110:22123:17268,LH00995:25:23T55JLT4:1:1250:44524:6801,LH00995:25:23T55JLT4:1:1413:29275:20743,LH00995:25:23T55JLT4:1:2112:8661:27105,LH00995:25:23T55JLT4:1:2209:14478:13779,LH00995:25:23T55JLT4:1:2409:12455:20281,LH00995:25:23T55JLT4:1:2437:30723:6577,LH00995:25:23T55JLT4:2:1296:9511:14116,LH00995:25:23T55JLT4:2:2305:45042:3999,LH00995:25:23T55JLT4:2:2465:4940:20968,LH00995:25:23T55JLT4:3:1183:9697:18726,LH00995:25:23T55JLT4:3:1187:34161:8076,LH00995:25:23T55JLT4:3:1213:9810:22397,LH00995:25:23T55JLT4:3:2279:9810:7432,LH00995:25:23T55JLT4:3:2313:39411:2569,LH00995:25:23T55JLT4:4:1248:30650:27133,LH00995:25:23T55JLT4:4:1293:6040:12056,LH00995:25:23T55JLT4:5:1181:25310:21248,LH00995:25:23T55JLT4:5:1344:16492:13709,LH00995:25:23T55JLT4:5:1377:44832:26110,LH00995:25:23T55JLT4:5:2103:41256:23167,LH00995:25:23T55JLT4:5:2185:33498:11579,LH00995:25:23T55JLT4:6:1158:45811:8609,LH00995:25:23T55JLT4:6:2293:17269:2331,LH00995:25:23T55JLT4:8:1222:27883:12616,LH00995:25:23T55JLT4:8:1366:37753:10038,LH00995:25:23T55JLT4:8:2147:3427:6157,LH00995:25:23T55JLT4:1:2161:11833:7684,LH00995:25:23T55JLT4:1:2491:29242:1350,LH00995:25:23T55JLT4:3:2201:21751:22509,LH00995:25:23T55JLT4:3:2366:18960:10052,LH00995:25:23T55JLT4:6:1140:11897:4685,LH00995:25:23T55JLT4:6:1215:10360:22032,LH00995:25:23T55JLT4:6:1392:13871:13989,LH00995:25:23T55JLT4:6:1392:13879:14003,LH00995:25:23T55JLT4:8:1358:21144:20897 out-of-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 4 14 +/+ -/- . 18 ENST00000650285 ENST00000394480 inversion 6.103236241016799e-05 0.003560528992878942 0.0018107806776445552 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98649675 88184299 chr15:98649675-chr15:88184299 +,- Arriba 1 0 7 7 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(11),mismatches(1) medium inversion CDS/splice-site CDS/splice-site 65535 3918 11.0 1.0 0.0 0.0 1 6 False duplicates(11),mismatches(1) FAIL False chr15:98649675 chr15:88184299 chr15:98649675-chr15:88184299 . . medium 65535 3918 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(7.0<8.0) duplicates(11),mismatches(1) AGTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCCGCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAA IGF1R NTRK3 ENSG00000140443 ENSG00000140538 SGSGGGSPTSLWGLLFLSAALSLWPTSGE|nt* LH00995:25:23T55JLT4:1:1116:23353:16596,LH00995:25:23T55JLT4:1:1361:24145:29431,LH00995:25:23T55JLT4:1:2278:32721:20575,LH00995:25:23T55JLT4:2:1147:16233:2191,LH00995:25:23T55JLT4:2:1153:16929:3424,LH00995:25:23T55JLT4:2:1204:51668:8553,LH00995:25:23T55JLT4:2:1248:6849:14634,LH00995:25:23T55JLT4:2:1314:38271:19146,LH00995:25:23T55JLT4:3:1280:46644:26811,LH00995:25:23T55JLT4:5:1492:49184:20505,LH00995:25:23T55JLT4:6:1285:45050:7376,LH00995:25:23T55JLT4:6:1322:44403:28646,LH00995:25:23T55JLT4:6:1324:37615:23392,LH00995:25:23T55JLT4:6:2202:32680:22803,LH00995:25:23T55JLT4:8:2170:51749:3452,LH00995:25:23T55JLT4:8:2201:22649:12406,LH00995:25:23T55JLT4:8:2209:18927:18347,LH00995:25:23T55JLT4:8:2449:7674:11047,LH00995:25:23T55JLT4:3:2132:40301:11958 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 6 +/+ -/- . 7 ENST00000650285 ENST00000394480 inversion 1.52587890625e-05 0.0015290519877675841 0.0007721553884150421 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98708107 88147403 chr15:98708107-chr15:88147403 +,- Arriba 1 0 4 4 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:medium;duplicates(1),mismatches(1) medium inversion CDS/splice-site CDS/splice-site 65535 1549 1.0 1.0 0.0 0.0 2 2 False duplicates(1),mismatches(1) FAIL False chr15:98708107 chr15:88147403 chr15:98708107-chr15:88147403 . . medium 65535 1549 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(1),mismatches(1) GTGGGGACCTGTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAGTACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA|AAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATT___GCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCC IGF1R NTRK3 ENSG00000140443 ENSG00000140538 GDLCPGTMEEKPMCEKTTINNEYNYRCWTTNRCQK|ktcqvtgsphsrgsssrr* LH00995:25:23T55JLT4:1:2115:48602:23588,LH00995:25:23T55JLT4:5:1234:19631:27637,LH00995:25:23T55JLT4:6:1341:15708:6549,LH00995:25:23T55JLT4:6:2319:8629:3004,LH00995:25:23T55JLT4:1:2219:15910:13009,LH00995:25:23T55JLT4:8:1491:36394:18585 out-of-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(49%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 2 2 +/+ -/- . 4 ENST00000650285 ENST00000394480 inversion 3.051711247081801e-05 0.0012894906511927789 0.0006600038818317985 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98948708 88184299 chr15:98948708-chr15:88184299 +,- Arriba 1 0 5 5 PASS in-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low;duplicates(9) low inversion CDS/splice-site CDS/splice-site 48801 3918 9.0 0.0 0.0 0.0 0 5 True duplicates(9) FAIL False chr15:98948708 chr15:88184299 chr15:98948708-chr15:88184299 . . low 48801 3918 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(5.0<8.0) duplicates(9) CGCCACACTGGCCGAGCAGCCCTACCAGGGCTTGTCCAACGAGCAAGTCCTTCGCTTCGTCATGGAGGGCGGCCTTCTGGACAAGCCAGACAACTGTCCTGACATGCT|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCC IGF1R NTRK3 ENSG00000140443 ENSG00000140538 ATLAEQPYQGLSNEQVLRFVMEGGLLDKPDNCPDMl|HIENWRSLHTLNAVDMELYTGLQKLTIKNSGLRSIQPRAFAKN LH00995:25:23T55JLT4:2:1482:15214:28842,LH00995:25:23T55JLT4:2:1482:15230:28842,LH00995:25:23T55JLT4:3:1225:4697:21584,LH00995:25:23T55JLT4:3:1274:12294:19833,LH00995:25:23T55JLT4:3:1495:6671:10626,LH00995:25:23T55JLT4:3:2252:15967:14144,LH00995:25:23T55JLT4:5:1270:50915:3802,LH00995:25:23T55JLT4:6:1227:49216:26586,LH00995:25:23T55JLT4:6:2134:6412:13877,LH00995:25:23T55JLT4:6:2383:17633:9183,LH00995:25:23T55JLT4:6:2483:36183:17464,LH00995:25:23T55JLT4:8:1288:41304:6885,LH00995:25:23T55JLT4:8:1296:26063:2261,LH00995:25:23T55JLT4:8:1409:25076:11733 in-frame Furin-like_cysteine_rich_region(100%),Protein_kinase_domain(90%),Receptor_L_domain(100%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 5 +/+ -/- . 5 ENST00000650285 ENST00000394480 inversion 0.0 0.0012745347947998981 0.0006372673973999491 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98708107 88127226 chr15:98708107-chr15:88127226 +,- Arriba 1 0 2 2 PASS in-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low;duplicates(2) low inversion CDS/splice-site CDS/splice-site 65535 2690 2.0 0.0 0.0 0.0 0 2 True duplicates(2) FAIL False chr15:98708107 chr15:88127226 chr15:98708107-chr15:88127226 . . low 65535 2690 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(2) CGCTGCTGGACCACAAACCGCTGCCAGAAAA|TTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGG___GTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTC IGF1R NTRK3 ENSG00000140443 ENSG00000140538 RCWTTNRCQK|iDEVSPTPPITVTHKPEEDTFGVSIAVGLAAFACVLLVVLF LH00995:25:23T55JLT4:1:1330:41952:1645,LH00995:25:23T55JLT4:8:1139:37001:9716,LH00995:25:23T55JLT4:8:1313:15109:19048,LH00995:25:23T55JLT4:8:2401:7003:9519 in-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 2 +/+ -/- . 2 ENST00000650285 ENST00000394480 inversion 0.0 0.0007429420505200594 0.0003714710252600297 1173_SK8 Arriba
fp_audit 1173_SK8 fusion IGF1R--NTRK3 IGF1R--NTRK3 IGF1R--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 IGF1R NTRK3 98708107 88126373 chr15:98708107-chr15:88126373 +,- Arriba 1 0 1 1 PASS out-of-frame IGF1R--NTRK3 IGF1R--NTRK3 confidence:low;duplicates(2) low inversion CDS/splice-site CDS/splice-site 65535 1161 2.0 0.0 0.0 0.0 0 1 False duplicates(2) FAIL False chr15:98708107 chr15:88126373 chr15:98708107-chr15:88126373 . . low 65535 1161 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) CAAACCGCTGCCAGAAAA|GTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGAC IGF1R NTRK3 ENSG00000140443 ENSG00000140538 NRCQK|sihsswtccfclcpvggslrhdqqiws LH00995:25:23T55JLT4:2:2159:46005:13905,LH00995:25:23T55JLT4:4:1448:48076:2527,LH00995:25:23T55JLT4:6:1420:22875:12042 out-of-frame Furin-like_cysteine_rich_region(24%),Receptor_L_domain(50%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000650285 ENST00000394480 inversion 0.0 0.0008605851979345956 0.0004302925989672978 1173_SK8 Arriba
fp_audit 1173_SK8 fusion LRRK1--NTRK3 LRRK1--NTRK3 LRRK1--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 LRRK1 NTRK3 100924729 88072599 chr15:100924729-chr15:88072599 +,- Arriba 1 0 1 1 PASS out-of-frame LRRK1--NTRK3 LRRK1--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 7780 19 1 0 False FAIL False chr15:100924729 chr15:88072599 chr15:100924729-chr15:88072599 . . low 7780 19 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GTCGCAAAGACCCCCCAGCATGTACTGGTGTGTGGGGCCGGAGGAGTCAGCTGTGTGTCCAGAACGcGCCATGGAGACGCTTAACG|ATGGCCTGGAGCTTTTGGCTGTCTTGCTTAAATGTGACTCAAAGCAGTTAAAAAATAAAGAAGGAAATAAAATGAAAA LRRK1 NTRK3 ENSG00000154237 ENSG00000140538 SQRPPSMYWCVGPEESAVCPERAMETLN|dglellavllkcdskqlknkegnkmk LH00995:25:23T55JLT4:2:1133:26030:21514 out-of-frame |Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000388948 ENST00000560739 inversion 0.00012851818532322323 0.0 6.425909266161162e-05 1173_SK8 Arriba
fp_audit 1173_SK8 fusion LRRK1--NTRK3 LRRK1--NTRK3 LRRK1--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 LRRK1 NTRK3 100919451 88137561 chr15:100919451-chr15:88137561 +,- Arriba 1 0 1 1 PASS LRRK1--NTRK3 LRRK1--NTRK3 confidence:low low inversion 5'UTR/splice-site CDS/splice-site 358 835 0 1 FAIL False chr15:100919451 chr15:88137561 chr15:100919451-chr15:88137561 . . low 358 835 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GCGTCCCGGAGCGCCCGCACCCGGCCCCGCCGCCGCCTCAG|GCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCC LRRK1 NTRK3 ENSG00000154237 ENSG00000140538 . LH00995:25:23T55JLT4:2:1466:34630:10963 . |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(9%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) 5'UTR/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000388948 ENST00000394480 inversion 0.0 0.0011961722488038277 0.0005980861244019139 1173_SK8 Arriba
fp_audit 1173_SK8 fusion LRRK1--NTRK3 LRRK1--NTRK3 LRRK1--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 LRRK1 NTRK3 100989398 88147941 chr15:100989398-chr15:88147941 +,+ Arriba 1 0 1 1 PASS out-of-frame LRRK1--NTRK3 LRRK1--NTRK3 confidence:low low duplication/5'-5' CDS/splice-site intron 7722 50 1 0 False FAIL False chr15:100989398 chr15:88147941 chr15:100989398-chr15:88147941 . . low 7722 50 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CATCTGCTGAGAAAGTACTTCATTGAAGCCAGTCCCTTGCCCAGCAGTTATCCGGGAAAAACA|GATGTACAGGGGAAAGGAGCAGCCATTAGTCTTCTGGATAAAAGAAGAAACACG LRRK1 NTRK3 ENSG00000154237 ENSG00000140538 HLLRKYFIEASPLPSSYPGKT|dvqgkgaaislldkrrn LH00995:25:23T55JLT4:4:2313:11711:9295 out-of-frame Ankyrin_repeats_(3_copies)(100%)| CDS/splice-site intron 1 0 +/+ -/+ . 1 ENST00000388948 . duplication/5'-5' 0.00012948336138806163 0.0 6.474168069403081e-05 1173_SK8 Arriba
fp_audit 1173_SK8 fusion LRRK1--NTRK3 LRRK1--NTRK3 LRRK1--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 LRRK1 NTRK3 100924729 88184299 chr15:100924729-chr15:88184299 +,- Arriba 1 0 1 1 PASS out-of-frame LRRK1--NTRK3 LRRK1--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 7780 1846 0 1 False FAIL False chr15:100924729 chr15:88184299 chr15:100924729-chr15:88184299 . . low 7780 1846 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CCAGAACGcGCCATGGAGACGCTTAACG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACAC LRRK1 NTRK3 ENSG00000154237 ENSG00000140538 PERAMETLN|dt* LH00995:25:23T55JLT4:8:2493:33020:6577 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000388948 ENST00000394480 inversion 0.0 0.0005414185165132648 0.0002707092582566324 1173_SK8 Arriba
fp_audit 1173_SK8 fusion LRRK1--NTRK3 LRRK1--NTRK3 LRRK1--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 LRRK1 NTRK3 100924729 88072599 chr15:100924729-chr15:88072599 +,- Arriba 1 0 1 1 PASS out-of-frame LRRK1--NTRK3 LRRK1--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 7780 19 1 0 False FAIL False chr15:100924729 chr15:88072599 chr15:100924729-chr15:88072599 . . low 7780 19 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GTCGCAAAGACCCCCCAGCATGTACTGGTGTGTGGGGCCGGAGGAGTCAGCTGTGTGTCCAGAACGcGCCATGGAGACGCTTAACG|ATGGCCTGGAGCTTTTGGCTGTCTTGCTTAAATGTGACTCAAAGCAGTTAAAAAATAAAGAAGGAAATAAAATGAAAA LRRK1 NTRK3 ENSG00000154237 ENSG00000140538 SQRPPSMYWCVGPEESAVCPERAMETLN|dglellavllkcdskqlknkegnkmk LH00995:25:23T55JLT4:2:1133:26030:21514 out-of-frame |Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000388948 ENST00000560739 inversion 0.00012851818532322323 0.0 6.425909266161162e-05 1173_SK8 Arriba
fp_audit 1173_SK8 fusion LRRK1--NTRK3 LRRK1--NTRK3 LRRK1--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 LRRK1 NTRK3 100919451 88137561 chr15:100919451-chr15:88137561 +,- Arriba 1 0 1 1 PASS LRRK1--NTRK3 LRRK1--NTRK3 confidence:low low inversion 5'UTR/splice-site CDS/splice-site 358 835 0 1 FAIL False chr15:100919451 chr15:88137561 chr15:100919451-chr15:88137561 . . low 358 835 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GCGTCCCGGAGCGCCCGCACCCGGCCCCGCCGCCGCCTCAG|GCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCC LRRK1 NTRK3 ENSG00000154237 ENSG00000140538 . LH00995:25:23T55JLT4:2:1466:34630:10963 . |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(9%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) 5'UTR/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000388948 ENST00000394480 inversion 0.0 0.0011961722488038277 0.0005980861244019139 1173_SK8 Arriba
fp_audit 1173_SK8 fusion LRRK1--NTRK3 LRRK1--NTRK3 LRRK1--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 LRRK1 NTRK3 100989398 88147941 chr15:100989398-chr15:88147941 +,+ Arriba 1 0 1 1 PASS out-of-frame LRRK1--NTRK3 LRRK1--NTRK3 confidence:low low duplication/5'-5' CDS/splice-site intron 7722 50 1 0 False FAIL False chr15:100989398 chr15:88147941 chr15:100989398-chr15:88147941 . . low 7722 50 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CATCTGCTGAGAAAGTACTTCATTGAAGCCAGTCCCTTGCCCAGCAGTTATCCGGGAAAAACA|GATGTACAGGGGAAAGGAGCAGCCATTAGTCTTCTGGATAAAAGAAGAAACACG LRRK1 NTRK3 ENSG00000154237 ENSG00000140538 HLLRKYFIEASPLPSSYPGKT|dvqgkgaaislldkrrn LH00995:25:23T55JLT4:4:2313:11711:9295 out-of-frame Ankyrin_repeats_(3_copies)(100%)| CDS/splice-site intron 1 0 +/+ -/+ . 1 ENST00000388948 . duplication/5'-5' 0.00012948336138806163 0.0 6.474168069403081e-05 1173_SK8 Arriba
fp_audit 1173_SK8 fusion LRRK1--NTRK3 LRRK1--NTRK3 LRRK1--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 LRRK1 NTRK3 100924729 88184299 chr15:100924729-chr15:88184299 +,- Arriba 1 0 1 1 PASS out-of-frame LRRK1--NTRK3 LRRK1--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 7780 1846 0 1 False FAIL False chr15:100924729 chr15:88184299 chr15:100924729-chr15:88184299 . . low 7780 1846 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CCAGAACGcGCCATGGAGACGCTTAACG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACAC LRRK1 NTRK3 ENSG00000154237 ENSG00000140538 PERAMETLN|dt* LH00995:25:23T55JLT4:8:2493:33020:6577 out-of-frame |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000388948 ENST00000394480 inversion 0.0 0.0005414185165132648 0.0002707092582566324 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MAN2A2--NTRK3 MAN2A2--NTRK3 MAN2A2--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 MAN2A2 NTRK3 90906497 88184299 chr15:90906497-chr15:88184299 +,- Arriba 1 0 2 2 PASS out-of-frame MAN2A2--NTRK3 MAN2A2--NTRK3 confidence:low;duplicates(1),mismappers(1),mismatches(1) low inversion CDS/splice-site CDS/splice-site 7995 1846 1.0 1.0 1.0 0.0 0 2 False duplicates(1),mismappers(1),mismatches(1) FAIL False chr15:90906497 chr15:88184299 chr15:90906497-chr15:88184299 . . low 7995 1846 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(1),mismappers(1),mismatches(1) TGATTGACCAGCTCATCGAAGGACACCAGTGGCTGGAGAGAAATCTTG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATAT___AAACCTGTCA MAN2A2 NTRK3 ENSG00000196547 ENSG00000140538 IDQLIEGHQWLERNL|dt* LH00995:25:23T55JLT4:1:1236:30302:12882,LH00995:25:23T55JLT4:2:1288:40423:7796,LH00995:25:23T55JLT4:2:2267:4883:1673,LH00995:25:23T55JLT4:3:1466:25828:15222,LH00995:25:23T55JLT4:5:1372:42704:29067 out-of-frame Glycosyl_hydrolases_family_38_N-terminal_domain(33%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 2 +/+ -/- . 2 ENST00000559717 ENST00000394480 inversion 0.0 0.0010822510822510823 0.0005411255411255411 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MAN2A2--NTRK3 MAN2A2--NTRK3 MAN2A2--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 MAN2A2 NTRK3 90913755 88072599 chr15:90913755-chr15:88072599 +,- Arriba 1 0 1 1 PASS out-of-frame MAN2A2--NTRK3 MAN2A2--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 4462 19 1 0 False FAIL False chr15:90913755 chr15:88072599 chr15:90913755-chr15:88072599 . . low 4462 19 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CCAGGACGCACAGAAGCGCCTCACGCTGCACACTGCCCAGGCCCTGGGTGTCTCTAGCCTCAAAGATG|ATGGCCTGGAGCTTTTGGCTGTCTTGCTTAAATGTGAC MAN2A2 NTRK3 ENSG00000196547 ENSG00000140538 QDAQKRLTLHTAQALGVSSLKD|dglellavllkc LH00995:25:23T55JLT4:1:1255:4568:19062 out-of-frame Alpha_mannosidase_middle_domain(100%),Glycosyl_hydrolases_family_38_C-terminal_domain(91%),Glycosyl_hydrolases_family_38_N-terminal_domain(100%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000559717 ENST00000560017 inversion 0.00022406453058480843 0.0 0.00011203226529240422 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MAN2A2--NTRK3 MAN2A2--NTRK3 MAN2A2--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 MAN2A2 NTRK3 90906497 88184299 chr15:90906497-chr15:88184299 +,- Arriba 1 0 2 2 PASS out-of-frame MAN2A2--NTRK3 MAN2A2--NTRK3 confidence:low;duplicates(1),mismappers(1),mismatches(1) low inversion CDS/splice-site CDS/splice-site 7995 1846 1.0 1.0 1.0 0.0 0 2 False duplicates(1),mismappers(1),mismatches(1) FAIL False chr15:90906497 chr15:88184299 chr15:90906497-chr15:88184299 . . low 7995 1846 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(1),mismappers(1),mismatches(1) TGATTGACCAGCTCATCGAAGGACACCAGTGGCTGGAGAGAAATCTTG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATAT___AAACCTGTCA MAN2A2 NTRK3 ENSG00000196547 ENSG00000140538 IDQLIEGHQWLERNL|dt* LH00995:25:23T55JLT4:1:1236:30302:12882,LH00995:25:23T55JLT4:2:1288:40423:7796,LH00995:25:23T55JLT4:2:2267:4883:1673,LH00995:25:23T55JLT4:3:1466:25828:15222,LH00995:25:23T55JLT4:5:1372:42704:29067 out-of-frame Glycosyl_hydrolases_family_38_N-terminal_domain(33%)|Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 2 +/+ -/- . 2 ENST00000559717 ENST00000394480 inversion 0.0 0.0010822510822510823 0.0005411255411255411 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MAN2A2--NTRK3 MAN2A2--NTRK3 MAN2A2--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 MAN2A2 NTRK3 90913755 88072599 chr15:90913755-chr15:88072599 +,- Arriba 1 0 1 1 PASS out-of-frame MAN2A2--NTRK3 MAN2A2--NTRK3 confidence:low low inversion CDS/splice-site CDS/splice-site 4462 19 1 0 False FAIL False chr15:90913755 chr15:88072599 chr15:90913755-chr15:88072599 . . low 4462 19 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CCAGGACGCACAGAAGCGCCTCACGCTGCACACTGCCCAGGCCCTGGGTGTCTCTAGCCTCAAAGATG|ATGGCCTGGAGCTTTTGGCTGTCTTGCTTAAATGTGAC MAN2A2 NTRK3 ENSG00000196547 ENSG00000140538 QDAQKRLTLHTAQALGVSSLKD|dglellavllkc LH00995:25:23T55JLT4:1:1255:4568:19062 out-of-frame Alpha_mannosidase_middle_domain(100%),Glycosyl_hydrolases_family_38_C-terminal_domain(91%),Glycosyl_hydrolases_family_38_N-terminal_domain(100%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000559717 ENST00000560017 inversion 0.00022406453058480843 0.0 0.00011203226529240422 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MIR1268A--NTRK3 MIR1268A--NTRK3 MIR1268A--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 MIR1268A NTRK3 22239596 88184299 chr15:22239596-chr15:88184299 -,- Arriba 1 0 14 14 PASS MIR1268A--NTRK3 MIR1268A--NTRK3 confidence:medium;duplicates(20),mismatches(2) medium duplication intergenic CDS/splice-site 7 3918 20.0 2.0 0.0 0.0 4 10 duplicates(20),mismatches(2) FAIL False chr15:22239596 chr15:88184299 chr15:22239596-chr15:88184299 . . medium 7 3918 upstream downstream 0 confidence_below_min(medium<high) duplicates(20),mismatches(2) GTCAGCACCAGGGACAGATTGCTCAAGAATCTGTGTGCTCCAAGGCACAAGAGGGGTGCTGTCTCCTTTCCTGGAGTTCCGTCTCATGCCTACGTTTCAG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCC MIR1268A(14267),AC025884.2(18542) NTRK3 . ENSG00000140538 . LH00995:25:23T55JLT4:1:1366:12439:7025,LH00995:25:23T55JLT4:1:2366:21120:5330,LH00995:25:23T55JLT4:2:2463:37049:5904,LH00995:25:23T55JLT4:3:1271:46862:4573,LH00995:25:23T55JLT4:3:2240:13345:15096,LH00995:25:23T55JLT4:3:2253:49945:4391,LH00995:25:23T55JLT4:1:1104:30399:5176,LH00995:25:23T55JLT4:1:1104:30407:5162,LH00995:25:23T55JLT4:1:1174:42939:17703,LH00995:25:23T55JLT4:1:1217:36232:16960,LH00995:25:23T55JLT4:1:1494:42655:20603,LH00995:25:23T55JLT4:1:2207:28304:24611,LH00995:25:23T55JLT4:1:2303:21743:14844,LH00995:25:23T55JLT4:2:1171:41499:6521,LH00995:25:23T55JLT4:3:1101:34525:5736,LH00995:25:23T55JLT4:3:2179:6137:7712,LH00995:25:23T55JLT4:3:2335:38918:14242,LH00995:25:23T55JLT4:3:2335:38926:14228,LH00995:25:23T55JLT4:4:1252:48642:22621,LH00995:25:23T55JLT4:4:1428:48618:29613,LH00995:25:23T55JLT4:4:1428:48634:29613,LH00995:25:23T55JLT4:5:1155:34727:25844,LH00995:25:23T55JLT4:5:1235:26184:2163,LH00995:25:23T55JLT4:5:1496:19558:7838,LH00995:25:23T55JLT4:5:2270:47647:2822,LH00995:25:23T55JLT4:6:1429:36386:17030,LH00995:25:23T55JLT4:8:1225:50195:4433,LH00995:25:23T55JLT4:8:1257:49637:13303,LH00995:25:23T55JLT4:8:1257:49653:13303,LH00995:25:23T55JLT4:8:2121:46320:19468,LH00995:25:23T55JLT4:8:2167:21524:2247,LH00995:25:23T55JLT4:8:2241:23571:7193,LH00995:25:23T55JLT4:8:2348:22875:10809,LH00995:25:23T55JLT4:8:2349:4220:21206,LH00995:25:23T55JLT4:8:2387:36078:8202,LH00995:25:23T55JLT4:8:2487:45042:2934 . |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) intergenic CDS/splice-site 4 10 ./- -/- . 14 . ENST00000394480 duplication 0.36363636363636365 0.0025458248472505093 0.18309109424180708 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MIR1268A--NTRK3 MIR1268A--NTRK3 MIR1268A--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 MIR1268A NTRK3 22239596 88184299 chr15:22239596-chr15:88184299 -,- Arriba 1 0 6 6 PASS MIR1268A--NTRK3 MIR1268A--NTRK3 confidence:medium;duplicates(4) medium duplication intergenic CDS/splice-site 4 1846 4.0 0.0 0.0 0.0 3 3 duplicates(4) FAIL False chr15:22239596 chr15:88184299 chr15:22239596-chr15:88184299 . . medium 4 1846 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(6.0<8.0) duplicates(4) CCTGGTTGGGCAGCCCTATGGCCCTGTGGAGCTGAGATGCCAGCTTTAGATGGGGGGACTTACAAtACGGGCTTTCCCTTCCCCAGTGGAACAGAAGGCGCCGGCGAGAGGCCCTCCTTGTCAGCACCAGGGACAGATTGCTCAAGAATCTGTGTGCTCCAAGGCACAAGAGGGGTGCTGTCTCCTTTCCTGGAGTTCCGTCTCATGCCTACGTTTCAG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCC MIR1268A(14267),AC025884.2(18542) NTRK3 . ENSG00000140538 . LH00995:25:23T55JLT4:1:2366:5320:18151,LH00995:25:23T55JLT4:2:2403:1000:22523,LH00995:25:23T55JLT4:6:1273:24396:16105,LH00995:25:23T55JLT4:7:1372:9948:27988,LH00995:25:23T55JLT4:5:1185:44508:23980,LH00995:25:23T55JLT4:5:1407:4527:5232,LH00995:25:23T55JLT4:5:2442:27317:19062,LH00995:25:23T55JLT4:7:1352:21371:22719,LH00995:25:23T55JLT4:7:1352:21379:22733,LH00995:25:23T55JLT4:8:1288:15069:16848 . |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) intergenic CDS/splice-site 3 3 ./- -/- . 6 . ENST00000394480 duplication 0.42857142857142855 0.0016224986479177934 0.21509696360967318 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MIR1268A--NTRK3 MIR1268A--NTRK3 MIR1268A--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr15 MIR1268A NTRK3 22239596 88184299 chr15:22239596-chr15:88184299 -,- Arriba 1 0 6 6 PASS MIR1268A--NTRK3 MIR1268A--NTRK3 confidence:medium;duplicates(4) medium duplication intergenic CDS/splice-site 4 1846 4.0 0.0 0.0 0.0 3 3 duplicates(4) FAIL False chr15:22239596 chr15:88184299 chr15:22239596-chr15:88184299 . . medium 4 1846 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(6.0<8.0) duplicates(4) CCTGGTTGGGCAGCCCTATGGCCCTGTGGAGCTGAGATGCCAGCTTTAGATGGGGGGACTTACAAtACGGGCTTTCCCTTCCCCAGTGGAACAGAAGGCGCCGGCGAGAGGCCCTCCTTGTCAGCACCAGGGACAGATTGCTCAAGAATCTGTGTGCTCCAAGGCACAAGAGGGGTGCTGTCTCCTTTCCTGGAGTTCCGTCTCATGCCTACGTTTCAG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCC MIR1268A(14267),AC025884.2(18542) NTRK3 . ENSG00000140538 . LH00995:25:23T55JLT4:1:2366:5320:18151,LH00995:25:23T55JLT4:2:2403:1000:22523,LH00995:25:23T55JLT4:6:1273:24396:16105,LH00995:25:23T55JLT4:7:1372:9948:27988,LH00995:25:23T55JLT4:5:1185:44508:23980,LH00995:25:23T55JLT4:5:1407:4527:5232,LH00995:25:23T55JLT4:5:2442:27317:19062,LH00995:25:23T55JLT4:7:1352:21371:22719,LH00995:25:23T55JLT4:7:1352:21379:22733,LH00995:25:23T55JLT4:8:1288:15069:16848 . |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) intergenic CDS/splice-site 3 3 ./- -/- . 6 . ENST00000394480 duplication 0.42857142857142855 0.0016224986479177934 0.21509696360967318 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MIR1268A--NTRK3 MIR1268A--NTRK3 MIR1268A--NTRK3 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 MIR1268A NTRK3 22239596 88184299 chr15:22239596-chr15:88184299 -,- Arriba 1 0 14 14 PASS MIR1268A--NTRK3 MIR1268A--NTRK3 confidence:medium;duplicates(20),mismatches(2) medium duplication intergenic CDS/splice-site 7 3918 20.0 2.0 0.0 0.0 4 10 duplicates(20),mismatches(2) FAIL False chr15:22239596 chr15:88184299 chr15:22239596-chr15:88184299 . . medium 7 3918 upstream downstream 0 confidence_below_min(medium<high) duplicates(20),mismatches(2) GTCAGCACCAGGGACAGATTGCTCAAGAATCTGTGTGCTCCAAGGCACAAGAGGGGTGCTGTCTCCTTTCCTGGAGTTCCGTCTCATGCCTACGTTTCAG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCC MIR1268A(14267),AC025884.2(18542) NTRK3 . ENSG00000140538 . LH00995:25:23T55JLT4:1:1366:12439:7025,LH00995:25:23T55JLT4:1:2366:21120:5330,LH00995:25:23T55JLT4:2:2463:37049:5904,LH00995:25:23T55JLT4:3:1271:46862:4573,LH00995:25:23T55JLT4:3:2240:13345:15096,LH00995:25:23T55JLT4:3:2253:49945:4391,LH00995:25:23T55JLT4:1:1104:30399:5176,LH00995:25:23T55JLT4:1:1104:30407:5162,LH00995:25:23T55JLT4:1:1174:42939:17703,LH00995:25:23T55JLT4:1:1217:36232:16960,LH00995:25:23T55JLT4:1:1494:42655:20603,LH00995:25:23T55JLT4:1:2207:28304:24611,LH00995:25:23T55JLT4:1:2303:21743:14844,LH00995:25:23T55JLT4:2:1171:41499:6521,LH00995:25:23T55JLT4:3:1101:34525:5736,LH00995:25:23T55JLT4:3:2179:6137:7712,LH00995:25:23T55JLT4:3:2335:38918:14242,LH00995:25:23T55JLT4:3:2335:38926:14228,LH00995:25:23T55JLT4:4:1252:48642:22621,LH00995:25:23T55JLT4:4:1428:48618:29613,LH00995:25:23T55JLT4:4:1428:48634:29613,LH00995:25:23T55JLT4:5:1155:34727:25844,LH00995:25:23T55JLT4:5:1235:26184:2163,LH00995:25:23T55JLT4:5:1496:19558:7838,LH00995:25:23T55JLT4:5:2270:47647:2822,LH00995:25:23T55JLT4:6:1429:36386:17030,LH00995:25:23T55JLT4:8:1225:50195:4433,LH00995:25:23T55JLT4:8:1257:49637:13303,LH00995:25:23T55JLT4:8:1257:49653:13303,LH00995:25:23T55JLT4:8:2121:46320:19468,LH00995:25:23T55JLT4:8:2167:21524:2247,LH00995:25:23T55JLT4:8:2241:23571:7193,LH00995:25:23T55JLT4:8:2348:22875:10809,LH00995:25:23T55JLT4:8:2349:4220:21206,LH00995:25:23T55JLT4:8:2387:36078:8202,LH00995:25:23T55JLT4:8:2487:45042:2934 . |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) intergenic CDS/splice-site 4 10 ./- -/- . 14 . ENST00000394480 duplication 0.36363636363636365 0.0025458248472505093 0.18309109424180708 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MYC--NGRN NGRN--MYC MYC--NGRN FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 NGRN MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 428 428 PASS NGRN--MYC MYC--NGRN confidence:high;duplicates(185) high translocation CDS/splice-site intergenic 19112 314 185.0 0.0 0.0 0.0 235 193 duplicates(185) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 19112 314 downstream downstream 0 duplicates(185) CTTCCCCCAGCACCCTGAAACGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATT NGRN MYC(4688),PVT1(46887) ENSG00000182768 . . 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. Neugrin(8%)| CDS/splice-site intergenic 235 193 +/+ ./- . 428 ENST00000331497 . translocation 0.012146586034010441 0.3806706114398422 0.19640859873692632 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MYC--NGRN NGRN--MYC MYC--NGRN FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr8 NGRN MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 325 325 PASS NGRN--MYC MYC--NGRN confidence:high;duplicates(124),mismatches(1) high translocation CDS/splice-site intergenic 18064 210 124.0 1.0 0.0 0.0 182 143 duplicates(124),mismatches(1) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 18064 210 downstream downstream 0 duplicates(124),mismatches(1) CTCTTCCCCCAGCACCCTGAAACGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATTCA NGRN MYC(4688),PVT1(46887) ENSG00000182768 . . 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. Neugrin(8%)| CDS/splice-site intergenic 182 143 +/+ ./- . 325 ENST00000331497 . translocation 0.009974788994848187 0.40509915014164305 0.2075369695682456 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MYC--NGRN NGRN--MYC MYC--NGRN FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr15 chr8 NGRN MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 325 325 PASS NGRN--MYC MYC--NGRN confidence:high;duplicates(124),mismatches(1) high translocation CDS/splice-site intergenic 18064 210 124.0 1.0 0.0 0.0 182 143 duplicates(124),mismatches(1) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 18064 210 downstream downstream 0 duplicates(124),mismatches(1) CTCTTCCCCCAGCACCCTGAAACGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATTCA NGRN MYC(4688),PVT1(46887) ENSG00000182768 . . 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. Neugrin(8%)| CDS/splice-site intergenic 182 143 +/+ ./- . 325 ENST00000331497 . translocation 0.009974788994848187 0.40509915014164305 0.2075369695682456 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MYC--NGRN NGRN--MYC MYC--NGRN FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr8 NGRN MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 428 428 PASS NGRN--MYC MYC--NGRN confidence:high;duplicates(185) high translocation CDS/splice-site intergenic 19112 314 185.0 0.0 0.0 0.0 235 193 duplicates(185) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 19112 314 downstream downstream 0 duplicates(185) CTTCCCCCAGCACCCTGAAACGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATT NGRN MYC(4688),PVT1(46887) ENSG00000182768 . . 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. Neugrin(8%)| CDS/splice-site intergenic 235 193 +/+ ./- . 428 ENST00000331497 . translocation 0.012146586034010441 0.3806706114398422 0.19640859873692632 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MYC--PCAT1 PCAT1--MYC MYC--PCAT1 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr8 chr8 PCAT1 MYC 126938310 127738248 chr8:126938310-chr8:127738248 +,+ Arriba 1 0 4 4 PASS PCAT1--MYC MYC--PCAT1 confidence:medium;duplicates(2) medium deletion exon/splice-site CDS/splice-site 4 65535 2.0 0.0 0.0 0.0 1 3 duplicates(2) FAIL False chr8:126938310 chr8:127738248 chr8:126938310-chr8:127738248 . . medium 4 65535 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(2) CTTCCAGCGGGAG___AGACCAGGAACTGCATTTGGATTTAAAGAAACAAAACTTTCTGGCACCTACTGTG|CAGCCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCGACTACGACTCGGTGCAGCCGTATTTCTACTGCGACGAGGAGGAGAACTT PCAT1 MYC ENSG00000253438 ENSG00000136997 . LH00995:25:23T55JLT4:2:2451:50754:22327,LH00995:25:23T55JLT4:6:2101:21824:7530,LH00995:25:23T55JLT4:2:2323:25497:16554,LH00995:25:23T55JLT4:3:2190:13386:16540,LH00995:25:23T55JLT4:3:2234:30666:7263,LH00995:25:23T55JLT4:8:1126:33797:17254 . |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) exon/splice-site CDS/splice-site 1 3 +/+ +/+ . 4 ENST00000646670 ENST00000621592 deletion 0.2 4.577497024626934e-05 0.10002288748512314 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MYC--PCAT1 PCAT1--MYC MYC--PCAT1 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr8 chr8 PCAT1 MYC 126938310 127738251 chr8:126938310-chr8:127738251 +,+ Arriba 1 0 3 3 PASS PCAT1--MYC MYC--PCAT1 confidence:medium medium deletion exon/splice-site CDS/splice-site 4 65535 2 1 FAIL False chr8:126938310 chr8:127738251 chr8:126938310-chr8:127738251 . . medium 4 65535 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) . GAACATACTGGCCCCCAG___AGACCAGGAACTGCATTTGGATTTAAAGAAACAAAACTTTCTGGCACCTACTGTG|CCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCGACTACGACTCGGTGCAGCCGTATTTCTACTGCGACGAGGAGGAGAACTTCTAC PCAT1 MYC ENSG00000253438 ENSG00000136997 . LH00995:25:23T55JLT4:5:2198:23531:17661,LH00995:25:23T55JLT4:6:1273:11994:4965,LH00995:25:23T55JLT4:1:2166:34760:25199 . |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) exon/splice-site CDS/splice-site 2 1 +/+ +/+ . 3 ENST00000646670 ENST00000524013 deletion 0.3333333333333333 1.52587890625e-05 0.1666742960611979 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MYC--PCAT1 PCAT1--MYC MYC--PCAT1 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr8 chr8 PCAT1 MYC 127399018 127738248 chr8:127399018-chr8:127738248 +,+ Arriba 1 0 1 1 PASS PCAT1--MYC MYC--PCAT1 confidence:low low deletion/read-through exon/splice-site CDS/splice-site 1 65535 1 0 FAIL False chr8:127399018 chr8:127738248 chr8:127399018-chr8:127738248 . . low 1 65535 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GTCACAAGCTTTTGTTATAAGGTCTCATCACACCATATGCCTCTCTTTCAAAACCAGCACCTGCAGAAAT|CAGCCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTC PCAT1 MYC ENSG00000253438 ENSG00000136997 . LH00995:25:23T55JLT4:5:2451:33708:2359 . |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) exon/splice-site CDS/splice-site 1 0 +/+ +/+ . 1 ENST00000645215 ENST00000621592 deletion/read-through 0.5 0.0 0.25 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MYC--PCAT1 PCAT1--MYC MYC--PCAT1 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr8 chr8 PCAT1 MYC 126938310 127738248 chr8:126938310-chr8:127738248 +,+ Arriba 1 0 4 4 PASS PCAT1--MYC MYC--PCAT1 confidence:medium;duplicates(2) medium deletion exon/splice-site CDS/splice-site 4 65535 2.0 0.0 0.0 0.0 1 3 duplicates(2) FAIL False chr8:126938310 chr8:127738248 chr8:126938310-chr8:127738248 . . medium 4 65535 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(2) CTTCCAGCGGGAG___AGACCAGGAACTGCATTTGGATTTAAAGAAACAAAACTTTCTGGCACCTACTGTG|CAGCCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCGACTACGACTCGGTGCAGCCGTATTTCTACTGCGACGAGGAGGAGAACTT PCAT1 MYC ENSG00000253438 ENSG00000136997 . LH00995:25:23T55JLT4:2:2451:50754:22327,LH00995:25:23T55JLT4:6:2101:21824:7530,LH00995:25:23T55JLT4:2:2323:25497:16554,LH00995:25:23T55JLT4:3:2190:13386:16540,LH00995:25:23T55JLT4:3:2234:30666:7263,LH00995:25:23T55JLT4:8:1126:33797:17254 . |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) exon/splice-site CDS/splice-site 1 3 +/+ +/+ . 4 ENST00000646670 ENST00000621592 deletion 0.2 4.577497024626934e-05 0.10002288748512314 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MYC--PCAT1 PCAT1--MYC MYC--PCAT1 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr8 chr8 PCAT1 MYC 126938310 127738251 chr8:126938310-chr8:127738251 +,+ Arriba 1 0 3 3 PASS PCAT1--MYC MYC--PCAT1 confidence:medium medium deletion exon/splice-site CDS/splice-site 4 65535 2 1 FAIL False chr8:126938310 chr8:127738251 chr8:126938310-chr8:127738251 . . medium 4 65535 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) . GAACATACTGGCCCCCAG___AGACCAGGAACTGCATTTGGATTTAAAGAAACAAAACTTTCTGGCACCTACTGTG|CCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTCGACTACGACTCGGTGCAGCCGTATTTCTACTGCGACGAGGAGGAGAACTTCTAC PCAT1 MYC ENSG00000253438 ENSG00000136997 . LH00995:25:23T55JLT4:5:2198:23531:17661,LH00995:25:23T55JLT4:6:1273:11994:4965,LH00995:25:23T55JLT4:1:2166:34760:25199 . |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) exon/splice-site CDS/splice-site 2 1 +/+ +/+ . 3 ENST00000646670 ENST00000524013 deletion 0.3333333333333333 1.52587890625e-05 0.1666742960611979 1173_SK8 Arriba
fp_audit 1173_SK8 fusion MYC--PCAT1 PCAT1--MYC MYC--PCAT1 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 BND chr8 chr8 PCAT1 MYC 127399018 127738248 chr8:127399018-chr8:127738248 +,+ Arriba 1 0 1 1 PASS PCAT1--MYC MYC--PCAT1 confidence:low low deletion/read-through exon/splice-site CDS/splice-site 1 65535 1 0 FAIL False chr8:127399018 chr8:127738248 chr8:127399018-chr8:127738248 . . low 1 65535 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GTCACAAGCTTTTGTTATAAGGTCTCATCACACCATATGCCTCTCTTTCAAAACCAGCACCTGCAGAAAT|CAGCCTCCCGCGACGATGCCCCTCAACGTTAGCTTCACCAACAGGAACTATGACCTC PCAT1 MYC ENSG00000253438 ENSG00000136997 . LH00995:25:23T55JLT4:5:2451:33708:2359 . |Helix-loop-helix_DNA-binding_domain(100%),Myc_amino-terminal_region(100%),Myc_leucine_zipper_domain(100%) exon/splice-site CDS/splice-site 1 0 +/+ +/+ . 1 ENST00000645215 ENST00000621592 deletion/read-through 0.5 0.0 0.25 1173_SK8 Arriba
fp_audit 1173_SK8 fusion NTRK3--OR4M1 OR4M1--NTRK3 NTRK3--OR4M1 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr14 chr15 OR4M1 NTRK3 19773593 88184299 chr14:19773593-chr15:88184299 +,- Arriba 1 0 4 4 PASS OR4M1--NTRK3 NTRK3--OR4M1 confidence:medium;duplicates(6) medium translocation 5'UTR/splice-site CDS/splice-site 1 3918 6.0 0.0 0.0 0.0 1 3 duplicates(6) FAIL False chr14:19773593 chr15:88184299 chr14:19773593-chr15:88184299 . . medium 1 3918 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(6) GGCTTCTTCTACCTCCTCCCCATAGTTCCTGAAGGCACCAAGACTGTCACAGTAATTG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAAC OR4M1 NTRK3 ENSG00000176299 ENSG00000140538 . LH00995:25:23T55JLT4:5:2372:28150:9996,LH00995:25:23T55JLT4:1:1333:11962:10739,LH00995:25:23T55JLT4:1:1333:11970:10725,LH00995:25:23T55JLT4:2:1302:15748:3536,LH00995:25:23T55JLT4:2:2144:20982:14172,LH00995:25:23T55JLT4:3:1207:21638:4321,LH00995:25:23T55JLT4:3:1285:11638:26460,LH00995:25:23T55JLT4:3:1324:27835:13709,LH00995:25:23T55JLT4:3:1415:21718:9281,LH00995:25:23T55JLT4:8:2167:51393:24611 . |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) 5'UTR/splice-site CDS/splice-site 1 3 +/+ -/- . 4 ENST00000641200 ENST00000394480 translocation 0.5 0.0007651109410864575 0.2503825554705432 1173_SK8 Arriba
fp_audit 1173_SK8 fusion NTRK3--OR4M1 OR4M1--NTRK3 NTRK3--OR4M1 FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr14 chr15 OR4M1 NTRK3 19773593 88184299 chr14:19773593-chr15:88184299 +,- Arriba 1 0 4 4 PASS OR4M1--NTRK3 NTRK3--OR4M1 confidence:medium;duplicates(6) medium translocation 5'UTR/splice-site CDS/splice-site 1 3918 6.0 0.0 0.0 0.0 1 3 duplicates(6) FAIL False chr14:19773593 chr15:88184299 chr14:19773593-chr15:88184299 . . medium 1 3918 downstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(6) GGCTTCTTCTACCTCCTCCCCATAGTTCCTGAAGGCACCAAGACTGTCACAGTAATTG|ACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCT___GACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAAC OR4M1 NTRK3 ENSG00000176299 ENSG00000140538 . LH00995:25:23T55JLT4:5:2372:28150:9996,LH00995:25:23T55JLT4:1:1333:11962:10739,LH00995:25:23T55JLT4:1:1333:11970:10725,LH00995:25:23T55JLT4:2:1302:15748:3536,LH00995:25:23T55JLT4:2:2144:20982:14172,LH00995:25:23T55JLT4:3:1207:21638:4321,LH00995:25:23T55JLT4:3:1285:11638:26460,LH00995:25:23T55JLT4:3:1324:27835:13709,LH00995:25:23T55JLT4:3:1415:21718:9281,LH00995:25:23T55JLT4:8:2167:51393:24611 . |Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Protein_kinase_domain(100%) 5'UTR/splice-site CDS/splice-site 1 3 +/+ -/- . 4 ENST00000641200 ENST00000394480 translocation 0.5 0.0007651109410864575 0.2503825554705432 1173_SK8 Arriba
fp_audit 1173_SK8 fusion NTRK3--RN7SL584P NTRK3--RN7SL584P NTRK3--RN7SL584P FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 NTRK3 RN7SL584P 88126271 20120500 chr15:88126271-chr15:20120500 -,+ Arriba 1 0 7 7 PASS out-of-frame NTRK3--RN7SL584P NTRK3--RN7SL584P confidence:medium;duplicates(6),mismappers(1),mismatches(2) medium inversion CDS/splice-site intergenic 1793 1 6.0 2.0 1.0 0.0 7 0 False duplicates(6),mismappers(1),mismatches(2) FAIL False chr15:88126271 chr15:20120500 chr15:88126271-chr15:20120500 . . medium 1793 1 upstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(7.0<8.0) duplicates(6),mismappers(1),mismatches(2) AAGACACTTTTGGG___...GGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGG|CCAACCAACCAAGTCACCAAACAAATAAGCAAACAGCCAACCAATCAACCAACAAGCAAGCAAGCAAGCAAC NTRK3 RN7SL584P(24471),AC087386.1(8245) ENSG00000140538 . VSIAVGLAAFACVLLVVLFVMINKYGRRSKFGMK|anqpshqtnkqtanqstnkqaskq LH00995:25:23T55JLT4:1:2233:13839:14494,LH00995:25:23T55JLT4:2:1269:35480:2037,LH00995:25:23T55JLT4:2:1429:35641:16161,LH00995:25:23T55JLT4:2:2209:42583:21626,LH00995:25:23T55JLT4:2:2324:43642:3788,LH00995:25:23T55JLT4:2:2407:6291:25101,LH00995:25:23T55JLT4:2:2492:34331:29417,LH00995:25:23T55JLT4:3:1318:41571:3368,LH00995:25:23T55JLT4:4:1135:33667:21010,LH00995:25:23T55JLT4:5:1225:27293:28296,LH00995:25:23T55JLT4:5:2324:7723:19482,LH00995:25:23T55JLT4:6:1486:43108:18361,LH00995:25:23T55JLT4:8:1180:12391:7922,LH00995:25:23T55JLT4:8:1180:12399:7936,LH00995:25:23T55JLT4:8:2143:29024:29445,LH00995:25:23T55JLT4:8:2288:26111:15012 out-of-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Leucine_rich_repeat_N-terminal_domain(100%)| CDS/splice-site intergenic 7 0 -/- ./+ . 7 ENST00000394480 . inversion 0.0038888888888888888 0.0 0.0019444444444444444 1173_SK8 Arriba
fp_audit 1173_SK8 fusion NTRK3--RN7SL584P NTRK3--RN7SL584P NTRK3--RN7SL584P FP FP Arriba dev_rna_exp0016 1173_SK8 altera_exact 1173 clinical patient lung Lung 62 unknown False 1173_SK8_T1_RNA_SLD_01 tRNA altera_inhouse ssf 36.30 38.00 49.8 AIH_Ext13_RNA H01 False dev_rna_exp0016_lib_s24 200.00 78.96 dev_rna_exp0016 H03 False 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 BND chr15 chr15 NTRK3 RN7SL584P 88126271 20120500 chr15:88126271-chr15:20120500 -,+ Arriba 1 0 7 7 PASS out-of-frame NTRK3--RN7SL584P NTRK3--RN7SL584P confidence:medium;duplicates(6),mismappers(1),mismatches(2) medium inversion CDS/splice-site intergenic 1793 1 6.0 2.0 1.0 0.0 7 0 False duplicates(6),mismappers(1),mismatches(2) FAIL False chr15:88126271 chr15:20120500 chr15:88126271-chr15:20120500 . . medium 1793 1 upstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(7.0<8.0) duplicates(6),mismappers(1),mismatches(2) AAGACACTTTTGGG___...GGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGG|CCAACCAACCAAGTCACCAAACAAATAAGCAAACAGCCAACCAATCAACCAACAAGCAAGCAAGCAAGCAAC NTRK3 RN7SL584P(24471),AC087386.1(8245) ENSG00000140538 . VSIAVGLAAFACVLLVVLFVMINKYGRRSKFGMK|anqpshqtnkqtanqstnkqaskq LH00995:25:23T55JLT4:1:2233:13839:14494,LH00995:25:23T55JLT4:2:1269:35480:2037,LH00995:25:23T55JLT4:2:1429:35641:16161,LH00995:25:23T55JLT4:2:2209:42583:21626,LH00995:25:23T55JLT4:2:2324:43642:3788,LH00995:25:23T55JLT4:2:2407:6291:25101,LH00995:25:23T55JLT4:2:2492:34331:29417,LH00995:25:23T55JLT4:3:1318:41571:3368,LH00995:25:23T55JLT4:4:1135:33667:21010,LH00995:25:23T55JLT4:5:1225:27293:28296,LH00995:25:23T55JLT4:5:2324:7723:19482,LH00995:25:23T55JLT4:6:1486:43108:18361,LH00995:25:23T55JLT4:8:1180:12391:7922,LH00995:25:23T55JLT4:8:1180:12399:7936,LH00995:25:23T55JLT4:8:2143:29024:29445,LH00995:25:23T55JLT4:8:2288:26111:15012 out-of-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_C-terminal_motif(100%),Leucine_rich_repeat_N-terminal_domain(100%)| CDS/splice-site intergenic 7 0 -/- ./+ . 7 ENST00000394480 . inversion 0.0038888888888888888 0.0 0.0019444444444444444 1173_SK8 Arriba
fp_audit 1173_T46 fusion NACA--PAX7 PAX7--NACA NACA--PAX7 FP FP Arriba dev_rna_exp0016 1173_T46 altera_exact 1173 clinical patient sarcoma Sarcoma 60 unknown False 1173_T46_T1_RNA_SLD_01 tRNA altera_inhouse ssf 17.80 38.00 42.75 AIH_Ext13_RNA E03 False dev_rna_exp0016_lib_s37 200.00 21.36 dev_rna_exp0016 E05 False 1173_T46_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_T46_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr12 PAX7 NACA 18720735 56712908 chr1:18720735-chr12:56712908 +,- Arriba 1 0 17 17 PASS PAX7--NACA NACA--PAX7 confidence:medium;duplicates(187),mismatches(38) medium translocation intron CDS/splice-site 3 65535 187.0 38.0 0.0 0.0 0 17 duplicates(187),mismatches(38) FAIL False chr1:18720735 chr12:56712908 chr1:18720735-chr12:56712908 . . medium 3 65535 downstream downstream 0 confidence_below_min(medium<high) duplicates(187),mismatches(38) GGGGGGAGAGAGAGAGAGAGAGAG|GTCGATGAAACAGGTGTAGAAGTTAAGGACATTGAATTGGTCATGTCACAAGCAAATGTGTCGAGAGCAAAGGCAGTCCGAGCCCTGAAGAACAACAGTAATGATATTGTAAATGCGA PAX7 NACA ENSG00000009709 ENSG00000196531 . LH00995:25:23T55JLT4:1:1118:10676:20253,LH00995:25:23T55JLT4:1:1178:25966:24569,LH00995:25:23T55JLT4:1:1185:7221:5750,LH00995:25:23T55JLT4:1:1196:7957:17478,LH00995:25:23T55JLT4:1:1197:35965:10388,LH00995:25:23T55JLT4:1:1270:28312:25802,LH00995:25:23T55JLT4:1:1326:7415:17829,LH00995:25:23T55JLT4:1:1337:41175:5036,LH00995:25:23T55JLT4:1:1360:38028:2948,LH00995:25:23T55JLT4:1:1362:11266:17745,LH00995:25:23T55JLT4:1:1407:23652:13331,LH00995:25:23T55JLT4:1:1466:23935:14942,LH00995:25:23T55JLT4:1:1468:51271:22383,LH00995:25:23T55JLT4:1:1474:36086:29291,LH00995:25:23T55JLT4:1:1488:24186:8258,LH00995:25:23T55JLT4:1:2132:14300:17338,LH00995:25:23T55JLT4:1:2140:3014:11691,LH00995:25:23T55JLT4:1:2178:17989:18151,LH00995:25:23T55JLT4:1:2184:10045:24373,LH00995:25:23T55JLT4:1:2216:43853:8721,LH00995:25:23T55JLT4:1:2228:14373:11047,LH00995:25:23T55JLT4:1:2272:24057:4839,LH00995:25:23T55JLT4:1:2321:48326:21626,LH00995:25:23T55JLT4:1:2381:50988:17941,LH00995:25:23T55JLT4:1:2392:49742:23574,LH00995:25:23T55JLT4:1:2393:21662:23392,LH00995:25:23T55JLT4:1:2410:1582:14648,LH00995:25:23T55JLT4:1:2432:26945:3032,LH00995:25:23T55JLT4:1:2448:29752:16273,LH00995:25:23T55JLT4:1:2473:16695:20477,LH00995:25:23T55JLT4:1:2480:46255:13135,LH00995:25:23T55JLT4:1:2489:2173:29543,LH00995:25:23T55JLT4:1:2491:48051:23532,LH00995:25:23T55JLT4:2:1109:44168:12070,LH00995:25:23T55JLT4:2:1166:50842:3873,LH00995:25:23T55JLT4:2:1176:40406:4937,LH00995:25:23T55JLT4:2:1189:48788:12336,LH00995:25:23T55JLT4:2:1205:17649:4923,LH00995:25:23T55JLT4:2:1217:36531:4643,LH00995:25:23T55JLT4:2:1237:19259:4517,LH00995:25:23T55JLT4:2:1250:27802:11607,LH00995:25:23T55JLT4:2:1259:28619:11425,LH00995:25:23T55JLT4:2:1268:20303:9940,LH00995:25:23T55JLT4:2:1297:7262:7586,LH00995:25:23T55JLT4:2:1345:21007:12392,LH00995:25:23T55JLT4:2:1349:21476:20043,LH00995:25:23T55JLT4:2:1352:12116:9491,LH00995:25:23T55JLT4:2:1367:11922:9379,LH00995:25:23T55JLT4:2:1444:4131:25507,LH00995:25:23T55JLT4:2:1477:24663:29655,LH00995:25:23T55JLT4:2:2113:37664:16021,LH00995:25:23T55JLT4:2:2125:20554:28926,LH00995:25:23T55JLT4:2:2247:34946:24989,LH00995:25:23T55JLT4:2:2248:12253:15867,LH00995:25:23T55JLT4:2:2270:44872:6283,LH00995:25:23T55JLT4:2:2319:40908:25928,LH00995:25:23T55JLT4:2:2360:29533:15755,LH00995:25:23T55JLT4:2:2360:36030:22271,LH00995:25:23T55JLT4:2:2402:17301:3312,LH00995:25:23T55JLT4:2:2428:16881:25760,LH00995:25:23T55JLT4:2:2438:46045:26783,LH00995:25:23T55JLT4:2:2457:8605:14536,LH00995:25:23T55JLT4:2:2471:10765:21416,LH00995:25:23T55JLT4:2:2476:31281:19482,LH00995:25:23T55JLT4:3:1101:34929:25662,LH00995:25:23T55JLT4:3:1111:21201:14270,LH00995:25:23T55JLT4:3:1136:28045:16484,LH00995:25:23T55JLT4:3:1149:15602:14494,LH00995:25:23T55JLT4:3:1150:48933:10262,LH00995:25:23T55JLT4:3:1233:20076:23504,LH00995:25:23T55JLT4:3:1263:22633:5820,LH00995:25:23T55JLT4:3:1269:38279:29445,LH00995:25:23T55JLT4:3:1309:47857:3859,LH00995:25:23T55JLT4:3:1328:40811:18165,LH00995:25:23T55JLT4:3:1333:35407:22313,LH00995:25:23T55JLT4:3:1333:35415:22327,LH00995:25:23T55JLT4:3:1342:22665:8314,LH00995:25:23T55JLT4:3:1349:47817:18894,LH00995:25:23T55JLT4:3:1368:7254:14017,LH00995:25:23T55JLT4:3:1460:41709:10753,LH00995:25:23T55JLT4:3:1461:24720:4783,LH00995:25:23T55JLT4:3:1487:42566:9828,LH00995:25:23T55JLT4:3:1495:50220:27427,LH00995:25:23T55JLT4:3:2106:7610:4573,LH00995:25:23T55JLT4:3:2128:1267:19987,LH00995:25:23T55JLT4:3:2144:40156:16722,LH00995:25:23T55JLT4:3:2172:5223:4895,LH00995:25:23T55JLT4:3:2192:45641:5316,LH00995:25:23T55JLT4:3:2221:51829:27469,LH00995:25:23T55JLT4:3:2241:40803:8707,LH00995:25:23T55JLT4:3:2257:24623:15433,LH00995:25:23T55JLT4:3:2277:2739:22929,LH00995:25:23T55JLT4:3:2283:25982:7137,LH00995:25:23T55JLT4:3:2335:1493:9898,LH00995:25:23T55JLT4:3:2387:10392:3957,LH00995:25:23T55JLT4:3:2394:36240:16498,LH00995:25:23T55JLT4:3:2425:50406:26797,LH00995:25:23T55JLT4:3:2461:23498:1911,LH00995:25:23T55JLT4:3:2475:14988:3760,LH00995:25:23T55JLT4:4:1102:41523:22032,LH00995:25:23T55JLT4:4:1166:28635:2065,LH00995:25:23T55JLT4:4:1169:21363:20155,LH00995:25:23T55JLT4:4:1221:5733:10682,LH00995:25:23T55JLT4:4:1227:22099:24148,LH00995:25:23T55JLT4:4:1250:50559:18684,LH00995:25:23T55JLT4:4:1257:31863:6311,LH00995:25:23T55JLT4:4:1280:17843:24681,LH00995:25:23T55JLT4:4:1285:37737:15335,LH00995:25:23T55JLT4:4:1297:21913:8553,LH00995:25:23T55JLT4:4:1312:23652:17086,LH00995:25:23T55JLT4:4:1385:14526:11173,LH00995:25:23T55JLT4:4:1393:7828:14704,LH00995:25:23T55JLT4:4:1398:2351:27357,LH00995:25:23T55JLT4:4:1430:15643:25353,LH00995:25:23T55JLT4:4:1437:23474:4923,LH00995:25:23T55JLT4:4:1445:46353:8483,LH00995:25:23T55JLT4:4:1466:30537:12840,LH00995:25:23T55JLT4:4:1475:37219:16708,LH00995:25:23T55JLT4:4:2102:17900:9758,LH00995:25:23T55JLT4:4:2175:21476:13317,LH00995:25:23T55JLT4:4:2184:23159:19678,LH00995:25:23T55JLT4:4:2188:26297:7235,LH00995:25:23T55JLT4:4:2203:28983:8917,LH00995:25:23T55JLT4:4:2231:1817:12364,LH00995:25:23T55JLT4:4:2233:2966:15335,LH00995:25:23T55JLT4:4:2282:37640:23630,LH00995:25:23T55JLT4:4:2291:27034:19692,LH00995:25:23T55JLT4:4:2433:44435:26993,LH00995:25:23T55JLT4:4:2443:10061:3690,LH00995:25:23T55JLT4:4:2446:48610:3284,LH00995:25:23T55JLT4:4:2469:12593:10711,LH00995:25:23T55JLT4:4:2491:47639:18557,LH00995:25:23T55JLT4:5:1102:40487:7011,LH00995:25:23T55JLT4:5:1154:14632:16876,LH00995:25:23T55JLT4:5:1187:45762:6171,LH00995:25:23T55JLT4:5:1244:11396:6759,LH00995:25:23T55JLT4:5:1245:43448:16904,LH00995:25:23T55JLT4:5:1258:24995:3830,LH00995:25:23T55JLT4:5:1289:6032:1813,LH00995:25:23T55JLT4:5:1305:5757:24625,LH00995:25:23T55JLT4:5:1339:46094:13303,LH00995:25:23T55JLT4:5:1347:22147:5176,LH00995:25:23T55JLT4:5:1354:38748:29389,LH00995:25:23T55JLT4:5:1371:29663:26797,LH00995:25:23T55JLT4:5:1393:12027:15699,LH00995:25:23T55JLT4:5:1402:23061:15727,LH00995:25:23T55JLT4:5:1453:43125:7516,LH00995:25:23T55JLT4:5:1474:29469:11131,LH00995:25:23T55JLT4:5:1493:7812:5540,LH00995:25:23T55JLT4:5:2136:42291:6128,LH00995:25:23T55JLT4:5:2197:22058:25087,LH00995:25:23T55JLT4:5:2263:39824:14858,LH00995:25:23T55JLT4:5:2264:19858:9842,LH00995:25:23T55JLT4:5:2342:31604:8497,LH00995:25:23T55JLT4:5:2351:30059:2541,LH00995:25:23T55JLT4:5:2371:11549:5932,LH00995:25:23T55JLT4:5:2428:20545:5344,LH00995:25:23T55JLT4:5:2497:32867:9590,LH00995:25:23T55JLT4:6:1140:9778:2667,LH00995:25:23T55JLT4:6:1151:49653:10276,LH00995:25:23T55JLT4:6:1234:45406:20043,LH00995:25:23T55JLT4:6:1234:45463:19917,LH00995:25:23T55JLT4:6:1247:13766:16946,LH00995:25:23T55JLT4:6:1265:41110:4503,LH00995:25:23T55JLT4:6:1301:34921:9618,LH00995:25:23T55JLT4:6:1333:42785:21976,LH00995:25:23T55JLT4:6:1350:2561:16876,LH00995:25:23T55JLT4:6:1357:8160:9842,LH00995:25:23T55JLT4:6:1383:37219:5750,LH00995:25:23T55JLT4:6:1387:34525:11397,LH00995:25:23T55JLT4:6:1402:34371:27721,LH00995:25:23T55JLT4:6:1405:36960:21892,LH00995:25:23T55JLT4:6:1413:39775:26741,LH00995:25:23T55JLT4:6:1437:48286:29543,LH00995:25:23T55JLT4:6:1491:34954:9982,LH00995:25:23T55JLT4:6:1495:26395:29151,LH00995:25:23T55JLT4:6:2102:38894:6409,LH00995:25:23T55JLT4:6:2118:22900:23574,LH00995:25:23T55JLT4:6:2159:40479:2822,LH00995:25:23T55JLT4:6:2168:33797:26362,LH00995:25:23T55JLT4:6:2225:15505:21976,LH00995:25:23T55JLT4:6:2244:5992:24387,LH00995:25:23T55JLT4:6:2308:7755:4769,LH00995:25:23T55JLT4:6:2309:34193:18445,LH00995:25:23T55JLT4:6:2368:31071:1715,LH00995:25:23T55JLT4:6:2370:10384:14452,LH00995:25:23T55JLT4:6:2385:2893:4111,LH00995:25:23T55JLT4:6:2387:3597:18810,LH00995:25:23T55JLT4:6:2393:14389:28114,LH00995:25:23T55JLT4:6:2419:8896:10528,LH00995:25:23T55JLT4:6:2487:19114:28226,LH00995:25:23T55JLT4:6:2488:8321:11551,LH00995:25:23T55JLT4:7:1157:16314:16035,LH00995:25:23T55JLT4:7:1169:10206:21990,LH00995:25:23T55JLT4:7:1178:25796:28422,LH00995:25:23T55JLT4:7:1183:50770:23868,LH00995:25:23T55JLT4:7:1183:9219:3859,LH00995:25:23T55JLT4:7:1227:42308:6100,LH00995:25:23T55JLT4:7:1255:27584:2597,LH00995:25:23T55JLT4:7:1357:1801:6002,LH00995:25:23T55JLT4:7:1362:16023:20547,LH00995:25:23T55JLT4:7:1372:51158:15040,LH00995:25:23T55JLT4:7:1374:11873:7894,LH00995:25:23T55JLT4:7:1417:8629:10907,LH00995:25:23T55JLT4:7:1465:22705:15755,LH00995:25:23T55JLT4:7:1465:40398:22299,LH00995:25:23T55JLT4:7:1466:22269:22565,LH00995:25:23T55JLT4:7:1468:35933:12826,LH00995:25:23T55JLT4:7:2102:40091:21990,LH00995:25:23T55JLT4:7:2106:47461:16708,LH00995:25:23T55JLT4:8:1102:50786:2990,LH00995:25:23T55JLT4:8:1120:38821:4405,LH00995:25:23T55JLT4:8:1311:17738:26152,LH00995:25:23T55JLT4:8:1329:47202:13373,LH00995:25:23T55JLT4:8:1353:37874:18515,LH00995:25:23T55JLT4:8:1357:32090:16820,LH00995:25:23T55JLT4:8:1363:28021:26727,LH00995:25:23T55JLT4:8:1371:50721:16161,LH00995:25:23T55JLT4:8:1389:38869:24527,LH00995:25:23T55JLT4:8:1411:23264:22971,LH00995:25:23T55JLT4:8:1423:27220:2107,LH00995:25:23T55JLT4:8:1434:36742:17899,LH00995:25:23T55JLT4:8:1460:28846:8398,LH00995:25:23T55JLT4:8:1471:22066:22467,LH00995:25:23T55JLT4:8:1488:21848:13401,LH00995:25:23T55JLT4:8:2130:17237:19622,LH00995:25:23T55JLT4:8:2141:33004:18487,LH00995:25:23T55JLT4:8:2167:50017:22369,LH00995:25:23T55JLT4:8:2202:19162:4181,LH00995:25:23T55JLT4:8:2260:51093:17086,LH00995:25:23T55JLT4:8:2297:42445:4209,LH00995:25:23T55JLT4:8:2356:19890:16203,LH00995:25:23T55JLT4:8:2357:29242:2303,LH00995:25:23T55JLT4:8:2371:36839:13611,LH00995:25:23T55JLT4:8:2385:30569:12532,LH00995:25:23T55JLT4:8:2385:45819:6353,LH00995:25:23T55JLT4:8:2403:10943:6423,LH00995:25:23T55JLT4:8:2403:20683:25676,LH00995:25:23T55JLT4:8:2411:18952:24555,LH00995:25:23T55JLT4:8:2447:33942:3859,LH00995:25:23T55JLT4:8:2474:9333:27707,LH00995:25:23T55JLT4:8:2493:34646:21080 . 'Paired_box'_domain(100%),Homeodomain(100%),Paired_box_protein_7_(100%)|HYPK_UBA_domain(100%) intron CDS/splice-site 0 17 +/+ -/- . 17 . ENST00000356769 translocation 0.0 0.00025933609958506224 0.00012966804979253112 1173_T46 Arriba
fp_audit 1173_T46 fusion NACA--PAX7 PAX7--NACA NACA--PAX7 FP FP Arriba dev_rna_exp0016 1173_T46 altera_exact 1173 clinical patient sarcoma Sarcoma 60 unknown False 1173_T46_T1_RNA_SLD_01 tRNA altera_inhouse ssf 17.80 38.00 42.75 AIH_Ext13_RNA E03 False dev_rna_exp0016_lib_s37 200.00 21.36 dev_rna_exp0016 E05 False 1173_T46_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_T46_T1_RNA_SLD_01_A23T55JLT4_1 BND chr1 chr12 PAX7 NACA 18720735 56712908 chr1:18720735-chr12:56712908 +,- Arriba 1 0 17 17 PASS PAX7--NACA NACA--PAX7 confidence:medium;duplicates(187),mismatches(38) medium translocation intron CDS/splice-site 3 65535 187.0 38.0 0.0 0.0 0 17 duplicates(187),mismatches(38) FAIL False chr1:18720735 chr12:56712908 chr1:18720735-chr12:56712908 . . medium 3 65535 downstream downstream 0 confidence_below_min(medium<high) duplicates(187),mismatches(38) GGGGGGAGAGAGAGAGAGAGAGAG|GTCGATGAAACAGGTGTAGAAGTTAAGGACATTGAATTGGTCATGTCACAAGCAAATGTGTCGAGAGCAAAGGCAGTCCGAGCCCTGAAGAACAACAGTAATGATATTGTAAATGCGA PAX7 NACA ENSG00000009709 ENSG00000196531 . LH00995:25:23T55JLT4:1:1118:10676:20253,LH00995:25:23T55JLT4:1:1178:25966:24569,LH00995:25:23T55JLT4:1:1185:7221:5750,LH00995:25:23T55JLT4:1:1196:7957:17478,LH00995:25:23T55JLT4:1:1197:35965:10388,LH00995:25:23T55JLT4:1:1270:28312:25802,LH00995:25:23T55JLT4:1:1326:7415:17829,LH00995:25:23T55JLT4:1:1337:41175:5036,LH00995:25:23T55JLT4:1:1360:38028:2948,LH00995:25:23T55JLT4:1:1362:11266:17745,LH00995:25:23T55JLT4:1:1407:23652:13331,LH00995:25:23T55JLT4:1:1466:23935:14942,LH00995:25:23T55JLT4:1:1468:51271:22383,LH00995:25:23T55JLT4:1:1474:36086:29291,LH00995:25:23T55JLT4:1:1488:24186:8258,LH00995:25:23T55JLT4:1:2132:14300:17338,LH00995:25:23T55JLT4:1:2140:3014:11691,LH00995:25:23T55JLT4:1:2178:17989:18151,LH00995:25:23T55JLT4:1:2184:10045:24373,LH00995:25:23T55JLT4:1:2216:43853:8721,LH00995:25:23T55JLT4:1:2228:14373:11047,LH00995:25:23T55JLT4:1:2272:24057:4839,LH00995:25:23T55JLT4:1:2321:48326:21626,LH00995:25:23T55JLT4:1:2381:50988:17941,LH00995:25:23T55JLT4:1:2392:49742:23574,LH00995:25:23T55JLT4:1:2393:21662:23392,LH00995:25:23T55JLT4:1:2410:1582:14648,LH00995:25:23T55JLT4:1:2432:26945:3032,LH00995:25:23T55JLT4:1:2448:29752:16273,LH00995:25:23T55JLT4:1:2473:16695:20477,LH00995:25:23T55JLT4:1:2480:46255:13135,LH00995:25:23T55JLT4:1:2489:2173:29543,LH00995:25:23T55JLT4:1:2491:48051:23532,LH00995:25:23T55JLT4:2:1109:44168:12070,LH00995:25:23T55JLT4:2:1166:50842:3873,LH00995:25:23T55JLT4:2:1176:40406:4937,LH00995:25:23T55JLT4:2:1189:48788:12336,LH00995:25:23T55JLT4:2:1205:17649:4923,LH00995:25:23T55JLT4:2:1217:36531:4643,LH00995:25:23T55JLT4:2:1237:19259:4517,LH00995:25:23T55JLT4:2:1250:27802:11607,LH00995:25:23T55JLT4:2:1259:28619:11425,LH00995:25:23T55JLT4:2:1268:20303:9940,LH00995:25:23T55JLT4:2:1297:7262:7586,LH00995:25:23T55JLT4:2:1345:21007:12392,LH00995:25:23T55JLT4:2:1349:21476:20043,LH00995:25:23T55JLT4:2:1352:12116:9491,LH00995:25:23T55JLT4:2:1367:11922:9379,LH00995:25:23T55JLT4:2:1444:4131:25507,LH00995:25:23T55JLT4:2:1477:24663:29655,LH00995:25:23T55JLT4:2:2113:37664:16021,LH00995:25:23T55JLT4:2:2125:20554:28926,LH00995:25:23T55JLT4:2:2247:34946:24989,LH00995:25:23T55JLT4:2:2248:12253:15867,LH00995:25:23T55JLT4:2:2270:44872:6283,LH00995:25:23T55JLT4:2:2319:40908:25928,LH00995:25:23T55JLT4:2:2360:29533:15755,LH00995:25:23T55JLT4:2:2360:36030:22271,LH00995:25:23T55JLT4:2:2402:17301:3312,LH00995:25:23T55JLT4:2:2428:16881:25760,LH00995:25:23T55JLT4:2:2438:46045:26783,LH00995:25:23T55JLT4:2:2457:8605:14536,LH00995:25:23T55JLT4:2:2471:10765:21416,LH00995:25:23T55JLT4:2:2476:31281:19482,LH00995:25:23T55JLT4:3:1101:34929:25662,LH00995:25:23T55JLT4:3:1111:21201:14270,LH00995:25:23T55JLT4:3:1136:28045:16484,LH00995:25:23T55JLT4:3:1149:15602:14494,LH00995:25:23T55JLT4:3:1150:48933:10262,LH00995:25:23T55JLT4:3:1233:20076:23504,LH00995:25:23T55JLT4:3:1263:22633:5820,LH00995:25:23T55JLT4:3:1269:38279:29445,LH00995:25:23T55JLT4:3:1309:47857:3859,LH00995:25:23T55JLT4:3:1328:40811:18165,LH00995:25:23T55JLT4:3:1333:35407:22313,LH00995:25:23T55JLT4:3:1333:35415:22327,LH00995:25:23T55JLT4:3:1342:22665:8314,LH00995:25:23T55JLT4:3:1349:47817:18894,LH00995:25:23T55JLT4:3:1368:7254:14017,LH00995:25:23T55JLT4:3:1460:41709:10753,LH00995:25:23T55JLT4:3:1461:24720:4783,LH00995:25:23T55JLT4:3:1487:42566:9828,LH00995:25:23T55JLT4:3:1495:50220:27427,LH00995:25:23T55JLT4:3:2106:7610:4573,LH00995:25:23T55JLT4:3:2128:1267:19987,LH00995:25:23T55JLT4:3:2144:40156:16722,LH00995:25:23T55JLT4:3:2172:5223:4895,LH00995:25:23T55JLT4:3:2192:45641:5316,LH00995:25:23T55JLT4:3:2221:51829:27469,LH00995:25:23T55JLT4:3:2241:40803:8707,LH00995:25:23T55JLT4:3:2257:24623:15433,LH00995:25:23T55JLT4:3:2277:2739:22929,LH00995:25:23T55JLT4:3:2283:25982:7137,LH00995:25:23T55JLT4:3:2335:1493:9898,LH00995:25:23T55JLT4:3:2387:10392:3957,LH00995:25:23T55JLT4:3:2394:36240:16498,LH00995:25:23T55JLT4:3:2425:50406:26797,LH00995:25:23T55JLT4:3:2461:23498:1911,LH00995:25:23T55JLT4:3:2475:14988:3760,LH00995:25:23T55JLT4:4:1102:41523:22032,LH00995:25:23T55JLT4:4:1166:28635:2065,LH00995:25:23T55JLT4:4:1169:21363:20155,LH00995:25:23T55JLT4:4:1221:5733:10682,LH00995:25:23T55JLT4:4:1227:22099:24148,LH00995:25:23T55JLT4:4:1250:50559:18684,LH00995:25:23T55JLT4:4:1257:31863:6311,LH00995:25:23T55JLT4:4:1280:17843:24681,LH00995:25:23T55JLT4:4:1285:37737:15335,LH00995:25:23T55JLT4:4:1297:21913:8553,LH00995:25:23T55JLT4:4:1312:23652:17086,LH00995:25:23T55JLT4:4:1385:14526:11173,LH00995:25:23T55JLT4:4:1393:7828:14704,LH00995:25:23T55JLT4:4:1398:2351:27357,LH00995:25:23T55JLT4:4:1430:15643:25353,LH00995:25:23T55JLT4:4:1437:23474:4923,LH00995:25:23T55JLT4:4:1445:46353:8483,LH00995:25:23T55JLT4:4:1466:30537:12840,LH00995:25:23T55JLT4:4:1475:37219:16708,LH00995:25:23T55JLT4:4:2102:17900:9758,LH00995:25:23T55JLT4:4:2175:21476:13317,LH00995:25:23T55JLT4:4:2184:23159:19678,LH00995:25:23T55JLT4:4:2188:26297:7235,LH00995:25:23T55JLT4:4:2203:28983:8917,LH00995:25:23T55JLT4:4:2231:1817:12364,LH00995:25:23T55JLT4:4:2233:2966:15335,LH00995:25:23T55JLT4:4:2282:37640:23630,LH00995:25:23T55JLT4:4:2291:27034:19692,LH00995:25:23T55JLT4:4:2433:44435:26993,LH00995:25:23T55JLT4:4:2443:10061:3690,LH00995:25:23T55JLT4:4:2446:48610:3284,LH00995:25:23T55JLT4:4:2469:12593:10711,LH00995:25:23T55JLT4:4:2491:47639:18557,LH00995:25:23T55JLT4:5:1102:40487:7011,LH00995:25:23T55JLT4:5:1154:14632:16876,LH00995:25:23T55JLT4:5:1187:45762:6171,LH00995:25:23T55JLT4:5:1244:11396:6759,LH00995:25:23T55JLT4:5:1245:43448:16904,LH00995:25:23T55JLT4:5:1258:24995:3830,LH00995:25:23T55JLT4:5:1289:6032:1813,LH00995:25:23T55JLT4:5:1305:5757:24625,LH00995:25:23T55JLT4:5:1339:46094:13303,LH00995:25:23T55JLT4:5:1347:22147:5176,LH00995:25:23T55JLT4:5:1354:38748:29389,LH00995:25:23T55JLT4:5:1371:29663:26797,LH00995:25:23T55JLT4:5:1393:12027:15699,LH00995:25:23T55JLT4:5:1402:23061:15727,LH00995:25:23T55JLT4:5:1453:43125:7516,LH00995:25:23T55JLT4:5:1474:29469:11131,LH00995:25:23T55JLT4:5:1493:7812:5540,LH00995:25:23T55JLT4:5:2136:42291:6128,LH00995:25:23T55JLT4:5:2197:22058:25087,LH00995:25:23T55JLT4:5:2263:39824:14858,LH00995:25:23T55JLT4:5:2264:19858:9842,LH00995:25:23T55JLT4:5:2342:31604:8497,LH00995:25:23T55JLT4:5:2351:30059:2541,LH00995:25:23T55JLT4:5:2371:11549:5932,LH00995:25:23T55JLT4:5:2428:20545:5344,LH00995:25:23T55JLT4:5:2497:32867:9590,LH00995:25:23T55JLT4:6:1140:9778:2667,LH00995:25:23T55JLT4:6:1151:49653:10276,LH00995:25:23T55JLT4:6:1234:45406:20043,LH00995:25:23T55JLT4:6:1234:45463:19917,LH00995:25:23T55JLT4:6:1247:13766:16946,LH00995:25:23T55JLT4:6:1265:41110:4503,LH00995:25:23T55JLT4:6:1301:34921:9618,LH00995:25:23T55JLT4:6:1333:42785:21976,LH00995:25:23T55JLT4:6:1350:2561:16876,LH00995:25:23T55JLT4:6:1357:8160:9842,LH00995:25:23T55JLT4:6:1383:37219:5750,LH00995:25:23T55JLT4:6:1387:34525:11397,LH00995:25:23T55JLT4:6:1402:34371:27721,LH00995:25:23T55JLT4:6:1405:36960:21892,LH00995:25:23T55JLT4:6:1413:39775:26741,LH00995:25:23T55JLT4:6:1437:48286:29543,LH00995:25:23T55JLT4:6:1491:34954:9982,LH00995:25:23T55JLT4:6:1495:26395:29151,LH00995:25:23T55JLT4:6:2102:38894:6409,LH00995:25:23T55JLT4:6:2118:22900:23574,LH00995:25:23T55JLT4:6:2159:40479:2822,LH00995:25:23T55JLT4:6:2168:33797:26362,LH00995:25:23T55JLT4:6:2225:15505:21976,LH00995:25:23T55JLT4:6:2244:5992:24387,LH00995:25:23T55JLT4:6:2308:7755:4769,LH00995:25:23T55JLT4:6:2309:34193:18445,LH00995:25:23T55JLT4:6:2368:31071:1715,LH00995:25:23T55JLT4:6:2370:10384:14452,LH00995:25:23T55JLT4:6:2385:2893:4111,LH00995:25:23T55JLT4:6:2387:3597:18810,LH00995:25:23T55JLT4:6:2393:14389:28114,LH00995:25:23T55JLT4:6:2419:8896:10528,LH00995:25:23T55JLT4:6:2487:19114:28226,LH00995:25:23T55JLT4:6:2488:8321:11551,LH00995:25:23T55JLT4:7:1157:16314:16035,LH00995:25:23T55JLT4:7:1169:10206:21990,LH00995:25:23T55JLT4:7:1178:25796:28422,LH00995:25:23T55JLT4:7:1183:50770:23868,LH00995:25:23T55JLT4:7:1183:9219:3859,LH00995:25:23T55JLT4:7:1227:42308:6100,LH00995:25:23T55JLT4:7:1255:27584:2597,LH00995:25:23T55JLT4:7:1357:1801:6002,LH00995:25:23T55JLT4:7:1362:16023:20547,LH00995:25:23T55JLT4:7:1372:51158:15040,LH00995:25:23T55JLT4:7:1374:11873:7894,LH00995:25:23T55JLT4:7:1417:8629:10907,LH00995:25:23T55JLT4:7:1465:22705:15755,LH00995:25:23T55JLT4:7:1465:40398:22299,LH00995:25:23T55JLT4:7:1466:22269:22565,LH00995:25:23T55JLT4:7:1468:35933:12826,LH00995:25:23T55JLT4:7:2102:40091:21990,LH00995:25:23T55JLT4:7:2106:47461:16708,LH00995:25:23T55JLT4:8:1102:50786:2990,LH00995:25:23T55JLT4:8:1120:38821:4405,LH00995:25:23T55JLT4:8:1311:17738:26152,LH00995:25:23T55JLT4:8:1329:47202:13373,LH00995:25:23T55JLT4:8:1353:37874:18515,LH00995:25:23T55JLT4:8:1357:32090:16820,LH00995:25:23T55JLT4:8:1363:28021:26727,LH00995:25:23T55JLT4:8:1371:50721:16161,LH00995:25:23T55JLT4:8:1389:38869:24527,LH00995:25:23T55JLT4:8:1411:23264:22971,LH00995:25:23T55JLT4:8:1423:27220:2107,LH00995:25:23T55JLT4:8:1434:36742:17899,LH00995:25:23T55JLT4:8:1460:28846:8398,LH00995:25:23T55JLT4:8:1471:22066:22467,LH00995:25:23T55JLT4:8:1488:21848:13401,LH00995:25:23T55JLT4:8:2130:17237:19622,LH00995:25:23T55JLT4:8:2141:33004:18487,LH00995:25:23T55JLT4:8:2167:50017:22369,LH00995:25:23T55JLT4:8:2202:19162:4181,LH00995:25:23T55JLT4:8:2260:51093:17086,LH00995:25:23T55JLT4:8:2297:42445:4209,LH00995:25:23T55JLT4:8:2356:19890:16203,LH00995:25:23T55JLT4:8:2357:29242:2303,LH00995:25:23T55JLT4:8:2371:36839:13611,LH00995:25:23T55JLT4:8:2385:30569:12532,LH00995:25:23T55JLT4:8:2385:45819:6353,LH00995:25:23T55JLT4:8:2403:10943:6423,LH00995:25:23T55JLT4:8:2403:20683:25676,LH00995:25:23T55JLT4:8:2411:18952:24555,LH00995:25:23T55JLT4:8:2447:33942:3859,LH00995:25:23T55JLT4:8:2474:9333:27707,LH00995:25:23T55JLT4:8:2493:34646:21080 . 'Paired_box'_domain(100%),Homeodomain(100%),Paired_box_protein_7_(100%)|HYPK_UBA_domain(100%) intron CDS/splice-site 0 17 +/+ -/- . 17 . ENST00000356769 translocation 0.0 0.00025933609958506224 0.00012966804979253112 1173_T46 Arriba
fp_audit 659_bdp fusion FGFR2--ILRUN ILRUN--FGFR2 FGFR2--ILRUN FP FP Arriba cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr10 ILRUN FGFR2 34606801 121488113 chr6:34606801-chr10:121488113 -,- Arriba 1 0 126 126 PASS in-frame ILRUN--FGFR2 FGFR2--ILRUN confidence:high;duplicates(182) high translocation CDS CDS/splice-site 197 2577 182.0 0.0 0.0 0.0 1 125 True duplicates(182) PASS False chr6:34606801 chr10:121488113 chr6:34606801-chr10:121488113 . . high 197 2577 upstream downstream 0 duplicates(182) GTAACGCAGCAGCTGTCATCTTTTGAAACGGAGTTCAACACACAGCCGCATCGTAAG|TGTATTCATCGAGATTTAGCAGCCAGAAATGTTTTGGTAACAGAAAACAATGTGATGAAAATAGCAGACTTTGGACTCGCCAGAGATATCAACAATATAGACTATTACAAAAAGACCACCAAT___GGGCGGCTTCCAGTCAAGTGGATGGCTCCAGAAGCCCTGTTTGATAGAGTATACACTCATCAGAGTGATGT___CTGGTCCTTCGGGGTGTTAATGTGGGAGATCTTCACTTTAGGGGGCTCGCCCTACCCAGGG ILRUN FGFR2 ENSG00000196821 ENSG00000066468 VTQQLSSFETEFNTQPHRK|CIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYP 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:23490,LH00166:186:2372Y3LT4:8:2246:50915:6297,LH00166:186:2372Y3LT4:8:2250:34040:17506,LH00166:186:2372Y3LT4:8:2250:34056:17506,LH00166:186:2372Y3LT4:8:2256:36944:29291,LH00166:186:2372Y3LT4:8:2258:18960:10781,LH00166:186:2372Y3LT4:8:2258:18976:10781,LH00166:186:2372Y3LT4:8:2262:40253:28268,LH00166:186:2372Y3LT4:8:2263:11590:8889,LH00166:186:2372Y3LT4:8:2268:43934:16063,LH00166:186:2372Y3LT4:8:2268:49459:7137,LH00166:186:2372Y3LT4:8:2270:21840:17647,LH00166:186:2372Y3LT4:8:2270:21848:17633,LH00166:186:2372Y3LT4:8:2270:31904:13415,LH00166:186:2372Y3LT4:8:2270:43828:15685,LH00166:186:2372Y3LT4:8:2273:22269:25143,LH00166:186:2372Y3LT4:8:2278:1736:12644,LH00166:186:2372Y3LT4:8:2283:3654:19861,LH00166:186:2372Y3LT4:8:2287:46514:13639,LH00166:186:2372Y3LT4:8:2293:37890:3634,LH00166:186:2372Y3LT4:8:2295:37251:4013,LH00166:186:2372Y3LT4:8:2295:7521:29557,LH00166:186:2372Y3LT4:8:2297:51320:16161,LH00166:186:2372Y3LT4:8:2310:21306:4699,LH00166:186:2372Y3LT4:8:2310:3953:1631,LH00166:186:2372Y3LT4:8:2310:51101:23434,LH00166:186:2372Y3LT4:8:2314:27568:20645,LH00166:186:2372Y3LT4:8:2314:27576:20631,LH00166:186:2372Y3LT4:8:2316:29428:5260,LH00166:186:2372Y3LT4:8:2321:9446:3158,LH00166:186:2372Y3LT4:8:2325:18491:16189,LH00166:186:2372Y3LT4:8:2325:8588:16385,LH00166:186:2372Y3LT4:8:2328:39379:14003,LH00166:186:2372Y3LT4:8:2337:2788:28450,LH00166:186:2372Y3LT4:8:2339:12407:1196,LH00166:186:2372Y3LT4:8:2339:28158:16932,LH00166:186:2372Y3LT4:8:2340:49734:6801,LH00166:186:2372Y3LT4:8:2342:22616:9968,LH00166:186:2372Y3LT4:8:2342:22625:9954,LH00166:186:2372Y3LT4:8:2342:29234:7053,LH00166:186:2372Y3LT4:8:2342:4082:6339,LH00166:186:2372Y3LT4:8:2347:12172:21612,LH00166:186:2372Y3LT4:8:2350:33150:28128,LH00166:186:2372Y3LT4:8:2350:38174:6227,LH00166:186:2372Y3LT4:8:2350:41757:20673,LH00166:186:2372Y3LT4:8:2350:48682:9211,LH00166:186:2372Y3LT4:8:2356:10401:12154,LH00166:186:2372Y3LT4:8:2357:40730:27609,LH00166:186:2372Y3LT4:8:2358:24712:24891,LH00166:186:2372Y3LT4:8:2363:50891:11803,LH00166:186:2372Y3LT4:8:2364:31281:29459,LH00166:186:2372Y3LT4:8:2375:3152:14228,LH00166:186:2372Y3LT4:8:2379:10198:5722,LH00166:186:2372Y3LT4:8:2379:23506:6997,LH00166:186:2372Y3LT4:8:2382:23239:5078,LH00166:186:2372Y3LT4:8:2392:22681:9576,LH00166:186:2372Y3LT4:8:2415:11323:27735,LH00166:186:2372Y3LT4:8:2425:48699:11453,LH00166:186:2372Y3LT4:8:2433:2513:3873,LH00166:186:2372Y3LT4:8:2445:1647:26054,LH00166:186:2372Y3LT4:8:2480:41482:3382,LH00166:186:2372Y3LT4:8:2498:10684:7796 in-frame Ig-like_domain_from_next_to_BRCA1_gene(100%),UBA-like_domain(100%)|Protein_kinase_domain(49%) CDS CDS/splice-site 1 125 -/- -/- . 126 ENST00000374026 ENST00000613048 translocation 0.005050505050505051 0.0462620281273131 0.025656266588909075 659_bdp Arriba
fp_audit 659_bdp fusion FGFR2--ILRUN ILRUN--FGFR2 FGFR2--ILRUN FP FP Arriba cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr10 ILRUN FGFR2 34606801 121488113 chr6:34606801-chr10:121488113 -,- STAR-Fusion 1 0 127 0.7569 127 FAIL in-frame ILRUN--FGFR2 FGFR2--ILRUN "[""INTERCHROMOSOMAL[chr6--chr10]""]" INCL_NON_REF_SPLICE YES_LDAS 1.8892 False False False GT AG 127 True Does not meet inclusion criteria 0 ENST00000374023.8 1-615 ENST00000369061.8 1528-2130 0.7569 FAIL atggagggcatggacgtagacctggacccggagctgatgcagaagttcagctgcctgggcaccaccgacaaggacgtgctcatctccgagttccagaggctgctcggcttccagctcaatcctgccggttgcgccttcttcctggacatgaccaactggaacctacaagcagcaattggcgcctattatgactttgagagcccaaacatcagtgtgccctctatgtcctttgttgaagatgtcaccataggagaaggggagtcaatacctccggatactcagtttgtaaaaacatggcggatccagaattctggggcagaggcctggcctccaggggtttgtcttaaatatgtcgggggagaccaatttggacatgtgaacatggtgatggtgagatcgctagagccccaagagattgcagatgtcagcgtccagatgtgcagccccagcagagcaggaatgtatcagggacagtggcggatgtgcactgctacaggactctactatggagatgtcatctgggtgattctcagtgtggaggtgggtggacttttaggagtaacgcagcagctgtcatcttttgaaacggagttcaacacacagccgcatcgtaagTGTATTCATCGAGATTTAGCAGCCAGAAATGTTTTGGTAACAGAAAACAATGTGATGAAAATAGCAGACTTTGGACTCGCCAGAGATATCAACAATATAGACTATTACAAAAAGACCACCAATGGGCGGCTTCCAGTCAAGTGGATGGCTCCAGAAGCCCTGTTTGATAGAGTATACACTCATCAGAGTGATGTCTGGTCCTTCGGGGTGTTAATGTGGGAGATCTTCACTTTAGGGGGCTCGCCCTACCCAGGGATTCCCGTGGAGGAACTTTTTAAGCTGCTGAAGGAAGGACACAGAATGGATAAGCCAGCCAACTGCACCAACGAACTGTACATGATGATGAGGGACTGTTGGCATGCAGTGCCCTCCCAGAGACCAACGTTCAAGCAGTTGGTAGAAGACTTGGATCGAATTCTCACTCTCACAACCAATGAGGAATACTTGGACCTCAGCCAACCTCTCGAACAGTATTCACCTAGTTACCCTGACACAAGAAGTTCTTGTTCTTCAGGAGATGATTCTGTTTTTTCTCCAGACCCCATGCCTTACGAACCATGCCTTCCTCAGTATCCACACATAAACGGCAGTGTTAAAACATGA chr6|-|[2]34606801-34606904[1]|[0]34646601-34646798[1]|[0]34654625-34654779[2]|[1]34696446-34696603[0]<==>chr10|-|[2]121479857-121480021[0]|[2]121483698-121483803[2]|[1]121485395-121485532[2]|[1]121487354-121487424[0]|[2]121487991-121488113[0] MEGMDVDLDPELMQKFSCLGTTDKDVLISEFQRLLGFQLNPAGCAFFLDMTNWNLQAAIGAYYDFESPNISVPSMSFVEDVTIGEGESIPPDTQFVKTWRIQNSGAEAWPPGVCLKYVGGDQFGHVNMVMVRSLEPQEIADVSVQMCSPSRAGMYQGQWRMCTATGLYYGDVIWVILSVEVGGLLGVTQQLSSFETEFNTQPHRKCIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEEYLDLSQPLEQYSPSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT* ILRUN--FGFR2 127 LH00166:186:2372Y3LT4:8:1103:13669:26418,LH00166:186:2372Y3LT4:8:1103:8054:28856,LH00166:186:2372Y3LT4:8:1107:13734:11874,LH00166:186:2372Y3LT4:8:1110:45446:25970,LH00166:186:2372Y3LT4:8:1111:36976:15699,LH00166:186:2372Y3LT4:8:1113:26540:11832,LH00166:186:2372Y3LT4:8:1115:51142:19496,LH00166:186:2372Y3LT4:8:1116:42162:8483,LH00166:186:2372Y3LT4:8:1117:46644:19692,LH00166:186:2372Y3LT4:8:1118:31847:2051,LH00166:186:2372Y3LT4:8:1118:51417:4923,LH00166:186:2372Y3LT4:8:1119:36758:9351,LH00166:186:2372Y3LT4:8:1119:9899:4475,LH00166:186:2372Y3LT4:8:1121:33595:2667,LH00166:186:2372Y3LT4:8:1124:3751:23588,LH00166:186:2372Y3LT4:8:1126:3322:9590,LH00166:186:2372Y3LT4:8:1130:5636:20631,LH00166:186:2372Y3LT4:8:1132:45916:12602,LH00166:186:2372Y3LT4:8:1136:18669:7221,LH00166:186:2372Y3LT4:8:1145:11444:22509,LH00166:186:2372Y3LT4:8:1148:48893:1224,LH00166:186:2372Y3LT4:8:1150:45366:8707,LH00166:186:2372Y3LT4:8:1152:25553:26685,LH00166:186:2372Y3LT4:8:1152:46846:8917,LH00166:186:2372Y3LT4:8:1156:20586:7292,LH00166:186:2372Y3LT4:8:1156:2537:16890,LH00166:186:2372Y3LT4:8:1156:33239:7123,LH00166:186:2372Y3LT4:8:1157:43982:14858,LH00166:186:2372Y3LT4:8:1159:36758:11986,LH00166:186:2372Y3LT4:8:1166:29784:4419,LH00166:186:2372Y3LT4:8:1167:26937:13303,LH00166:186:2372Y3LT4:8:1167:30278:16764,LH00166:186:2372Y3LT4:8:1170:13523:26727,LH00166:186:2372Y3LT4:8:1174:25254:10360,LH00166:186:2372Y3LT4:8:1175:9130:6843,LH00166:186:2372Y3LT4:8:1176:16064:21234,LH00166:186:2372Y3LT4:8:1183:1469:3915,LH00166:186:2372Y3LT4:8:1193:3209:23518,LH00166:186:2372Y3LT4:8:1194:48051:2513,LH00166:186:2372Y3LT4:8:1196:38279:6157,LH00166:186:2372Y3LT4:8:1203:15352:2345,LH00166:186:2372Y3LT4:8:1203:16225:4503,LH00166:186:2372Y3LT4:8:1204:10732:14158,LH00166:186:2372Y3LT4:8:1204:39533:17633,LH00166:186:2372Y3LT4:8:1210:48674:29459,LH00166:186:2372Y3LT4:8:1214:23741:19034,LH00166:186:2372Y3LT4:8:1215:24963:17535,LH00166:186:2372Y3LT4:8:1221:9907:17773,LH00166:186:2372Y3LT4:8:1223:7221:9730,LH00166:186:2372Y3LT4:8:1224:15368:24961,LH00166:186:2372Y3LT4:8:1224:17601:9547,LH00166:186:2372Y3LT4:8:1224:36491:17408,LH00166:186:2372Y3LT4:8:1240:30326:8665,LH00166:186:2372Y3LT4:8:1242:32211:20757,LH00166:186:2372Y3LT4:8:1242:44953:14746,LH00166:186:2372Y3LT4:8:1250:45204:27259,LH00166:186:2372Y3LT4:8:1255:4098:23153,LH00166:186:2372Y3LT4:8:1265:3872:25928,LH00166:186:2372Y3LT4:8:1277:12067:11509,LH00166:186:2372Y3LT4:8:1288:36361:10935,LH00166:186:2372Y3LT4:8:1293:30820:21010,LH00166:186:2372Y3LT4:8:1296:1275:3578,LH00166:186:2372Y3LT4:8:1298:27204:29599,LH00166:186:2372Y3LT4:8:1308:28166:25914,LH00166:186:2372Y3LT4:8:1313:17593:17801,LH00166:186:2372Y3LT4:8:1326:40989:15194,LH00166:186:2372Y3LT4:8:1331:6582:28997,LH00166:186:2372Y3LT4:8:1332:51190:17506,LH00166:186:2372Y3LT4:8:1337:19251:17170,LH00166:186:2372Y3LT4:8:1338:9163:10234,LH00166:186:2372Y3LT4:8:1342:32098:22243,LH00166:186:2372Y3LT4:8:1343:8499:23406,LH00166:186:2372Y3LT4:8:1344:24526:25522,LH00166:186:2372Y3LT4:8:1354:28425:18796,LH00166:186:2372Y3LT4:8:1356:17528:9029,LH00166:186:2372Y3LT4:8:1358:21201:24022,LH00166:186:2372Y3LT4:8:1367:12269:11243,LH00166:186:2372Y3LT4:8:1378:32907:14172,LH00166:186:2372Y3LT4:8:1384:37850:21640,LH00166:186:2372Y3LT4:8:1394:29145:27217,LH00166:186:2372Y3LT4:8:1401:23353:18669,LH00166:186:2372Y3LT4:8:1404:10247:16035,LH00166:186:2372Y3LT4:8:1405:20295:24499,LH00166:186:2372Y3LT4:8:1406:16387:4503,LH00166:186:2372Y3LT4:8:1406:4325:1266,LH00166:186:2372Y3LT4:8:1416:20287:23868,LH00166:186:2372Y3LT4:8:1425:1105:24919,LH00166:186:2372Y3LT4:8:1434:13281:15825,LH00166:186:2372Y3LT4:8:1435:11994:20519,LH00166:186:2372Y3LT4:8:1440:37704:25479,LH00166:186:2372Y3LT4:8:1442:7432:1967,LH00166:186:2372Y3LT4:8:1443:7512:11243,LH00166:186:2372Y3LT4:8:1452:49281:11061,LH00166:186:2372Y3LT4:8:1488:13531:4181,LH00166:186:2372Y3LT4:8:1489:39266:23868,LH00166:186:2372Y3LT4:8:1493:42639:13121,LH00166:186:2372Y3LT4:8:2128:13815:2990,LH00166:186:2372Y3LT4:8:2152:28385:2247,LH00166:186:2372Y3LT4:8:2155:18183:10697,LH00166:186:2372Y3LT4:8:2159:33376:20729,LH00166:186:2372Y3LT4:8:2173:25124:21626,LH00166:186:2372Y3LT4:8:2178:24930:3326,LH00166:186:2372Y3LT4:8:2184:45746:4741,LH00166:186:2372Y3LT4:8:2187:21128:3802,LH00166:186:2372Y3LT4:8:2215:30318:3662,LH00166:186:2372Y3LT4:8:2222:30884:2121,LH00166:186:2372Y3LT4:8:2229:46086:13737,LH00166:186:2372Y3LT4:8:2234:41215:7179,LH00166:186:2372Y3LT4:8:2262:40253:28268,LH00166:186:2372Y3LT4:8:2268:43934:16063,LH00166:186:2372Y3LT4:8:2273:22269:25143,LH00166:186:2372Y3LT4:8:2339:12407:1196,LH00166:186:2372Y3LT4:8:2339:28158:16932,LH00166:186:2372Y3LT4:8:2350:33150:28128,LH00166:186:2372Y3LT4:8:2350:41757:20673,LH00166:186:2372Y3LT4:8:2350:48682:9211,LH00166:186:2372Y3LT4:8:2358:24712:24891,LH00166:186:2372Y3LT4:8:2364:31281:29459,LH00166:186:2372Y3LT4:8:2379:23506:6997,LH00166:186:2372Y3LT4:8:2382:23239:5078,LH00166:186:2372Y3LT4:8:2392:22681:9576,LH00166:186:2372Y3LT4:8:2415:11323:27735,LH00166:186:2372Y3LT4:8:2425:48699:11453,LH00166:186:2372Y3LT4:8:2433:2513:3873,LH00166:186:2372Y3LT4:8:2445:1647:26054,LH00166:186:2372Y3LT4:8:2480:41482:3382,LH00166:186:2372Y3LT4:8:2498:10684:7796 YES_LDAS GT 1.9329 chr6:34606801:- ILRUN^ENSG00000196821.10 UBA_4|26-65|2.8e-14^N_BRCA1_IG|82-179|4e-35 . INFRAME AG 1.8892 chr10:121488113:- FGFR2^ENSG00000066468.23 0 . INCL_NON_REF_SPLICE "[""INTERCHROMOSOMAL[chr6--chr10]""]" False chr6:34606801-chr10:121488113 127.0 0.0 Does not meet inclusion criteria 127 659_bdp STAR-Fusion
fp_audit 659_bdp fusion FGFR2--PLEKHA4 FGFR2--PLEKHA4 FGFR2--PLEKHA4 FP FP Arriba cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr10 chr19 FGFR2 PLEKHA4 121496532 48867626 chr10:121496532-chr19:48867626 -,- Arriba 1 0 4 4 PASS in-frame FGFR2--PLEKHA4 FGFR2--PLEKHA4 confidence:medium;duplicates(3) medium translocation CDS/splice-site 5'UTR/splice-site 1851 1126 3.0 0.0 0.0 0.0 1 3 True duplicates(3) FAIL False chr10:121496532 chr19:48867626 chr10:121496532-chr19:48867626 . . medium 1851 1126 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) duplicates(3) TTCTGATCTGGTGTCAGAGATGGAGATGATGAAGATGATTGGGAAACACAAGAATATCATAAATCTTCTTGGAGCCTGCACACAGGATG___GGCCTCTCTATGTCATAGTTGAGTATGCCTCTAAAGGCAACCTCCGAGAATACCTCCGAGCC...CGGGATGGAGTACTCCTATGACATTAACCGTGTTCCTGAGGAGCAGATGACCTTCAAGGACTTGGTGTCATGCACCTACCAGCTGGCCAGAGGCATGGAGTACTTGGCTTCCCAAAAA|CCCTTGATGGAGGGGAGCCGACCTCGCAGCAGCCTGAGCCTGGCCAGCAGCGCCTCCACCATCTCCTCGCTCAGCAGCCTGAGCCCCAAG___AAGCCCACCCGGGCAGTAAACAAGgTC FGFR2 PLEKHA4 ENSG00000066468 ENSG00000105559 GMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQK|plMEGSRPRSSLSLASSASTISSLSSLSPKKPTRAVNK LH00166:186:2372Y3LT4:8:1488:37591:1771,LH00166:186:2372Y3LT4:8:1304:26532:13527,LH00166:186:2372Y3LT4:8:1304:26548:13527,LH00166:186:2372Y3LT4:8:1368:50915:5820,LH00166:186:2372Y3LT4:8:1451:13483:22565,LH00166:186:2372Y3LT4:8:2284:27503:15741,LH00166:186:2372Y3LT4:8:2330:2634:9856 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(50%)|PH_domain(100%) CDS/splice-site 5'UTR/splice-site 1 3 -/- -/- . 4 ENST00000613048 ENST00000263265 translocation 0.0005399568034557236 0.002657218777679362 0.001598587790567543 659_bdp Arriba
fp_audit 659_bdp fusion FGFR2--PLEKHA4 FGFR2--PLEKHA4 FGFR2--PLEKHA4 FP FP Arriba cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr10 chr19 FGFR2 PLEKHA4 121496532 48861692 chr10:121496532-chr19:48861692 -,- Arriba 1 0 1 1 PASS in-frame FGFR2--PLEKHA4 FGFR2--PLEKHA4 confidence:low low translocation CDS/splice-site CDS/splice-site 1851 758 0 1 True FAIL False chr10:121496532 chr19:48861692 chr10:121496532-chr19:48861692 . . low 1851 758 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CTTCAAGGACTTGGTGTCATGCACCTACCAGCTGGCCAGAGGCATGGAGTACTTGGCTTCCCAAAAA|GACAGCTCGGGGCTCCGTCTCTGGAAACGCCGCTGGTTCGTCCTCTCCGGCCATTGCCTCTTTTATTACAAGG FGFR2 PLEKHA4 ENSG00000066468 ENSG00000105559 FKDLVSCTYQLARGMEYLASQK|DSSGLRLWKRRWFVLSGHCLFYYK LH00166:186:2372Y3LT4:8:2212:47129:9183 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(50%)|PH_domain(89%) CDS/splice-site CDS/splice-site 0 1 -/- -/- . 1 ENST00000613048 ENST00000263265 translocation 0.0 0.0013175230566534915 0.0006587615283267457 659_bdp Arriba
fp_audit 659_bdp fusion FGFR2--PLEKHA4 FGFR2--PLEKHA4 FGFR2--PLEKHA4 FP FP Arriba cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr10 chr19 FGFR2 PLEKHA4 121496532 48867626 chr10:121496532-chr19:48867626 -,- STAR-Fusion 1 0 4 0.0238 4 FAIL FGFR2--PLEKHA4 FGFR2--PLEKHA4 "[""INTERCHROMOSOMAL[chr10--chr19]""]" ONLY_REF_SPLICE YES_LDAS 1.8295 False False False GT AG 4 Read count too low: 4 < 8 0 . . . . 0.0238 FAIL . . . FGFR2--PLEKHA4 4 LH00166:186:2372Y3LT4:8:1304:26532:13527,LH00166:186:2372Y3LT4:8:1488:37591:1771,LH00166:186:2372Y3LT4:8:2284:27503:15741,LH00166:186:2372Y3LT4:8:2330:2634:9856 YES_LDAS GT 1.9329 chr10:121496532:- FGFR2^ENSG00000066468.23 . . . AG 1.8295 chr19:48867626:- PLEKHA4^ENSG00000105559.12 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr10--chr19]""]" False chr10:121496532-chr19:48867626 4.0 0.0 Read count too low: 4 < 8 4 659_bdp STAR-Fusion
fp_audit 659_bdp fusion FGFR2--PLEKHA4 FGFR2--PLEKHA4 FGFR2--PLEKHA4 FP FP Arriba cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr10 chr19 FGFR2 PLEKHA4 121496532 48861692 chr10:121496532-chr19:48861692 -,- STAR-Fusion 1 0 1 0.006 1 FAIL in-frame FGFR2--PLEKHA4 FGFR2--PLEKHA4 "[""INTERCHROMOSOMAL[chr10--chr19]""]" ONLY_REF_SPLICE YES_LDAS 1.8323 False False False GT AG 1 True Read count too low: 1 < 8 0 ENST00000369056.5 1-1866 ENST00000263265.11 193-2340 0.006 FAIL atggtcagctggggtcgtttcatctgcctggtcgtggtcaccatggcaaccttgtccctggcccggccctccttcagtttagttgaggataccacattagagccagaagagccaccaaccaaataccaaatctctcaaccagaagtgtacgtggctgcgccaggggagtcgctagaggtgcgctgcctgttgaaagatgccgccgtgatcagttggactaaggatggggtgcacttggggcccaacaataggacagtgcttattggggagtacttgcagataaagggcgccacgcctagagactccggcctctatgcttgtactgccagtaggactgtagacagtgaaacttggtacttcatggtgaatgtcacagatgccatctcatccggagatgatgaggatgacaccgatggtgcggaagattttgtcagtgagaacagtaacaacaagagagcaccatactggaccaacacagaaaagatggaaaagcggctccatgctgtgcctgcggccaacactgtcaagtttcgctgcccagccggggggaacccaatgccaaccatgcggtggctgaaaaacgggaaggagtttaagcaggagcatcgcattggaggctacaaggtacgaaaccagcactggagcctcattatggaaagtgtggtcccatctgacaagggaaattatacctgtgtagtggagaatgaatacgggtccatcaatcacacgtaccacctggatgttgtggagcgatcgcctcaccggcccatcctccaagccggactgccggcaaatgcctccacagtggtcggaggagacgtagagtttgtctgcaaggtttacagtgatgcccagccccacatccagtggatcaagcacgtggaaaagaacggcagtaaatacgggcccgacgggctgccctacctcaaggttctcaagcactcggggataaatagttccaatgcagaagtgctggctctgttcaatgtgaccgaggcggatgctggggaatatatatgtaaggtctccaattatatagggcaggccaaccagtctgcctggctcactgtcctgccaaaacagcaagcgcctggaagagaaaaggagattacagcttccccagactacctggagatagccatttactgcataggggtcttcttaatcgcctgtatggtggtaacagtcatcctgtgccgaatgaagaacacgaccaagaagccagacttcagcagccagccggctgtgcacaagctgaccaaacgtatccccctgcggagacaggtaacagtttcggctgagtccagctcctccatgaactccaacaccccgctggtgaggataacaacacgcctctcttcaacggcagacacccccatgctggcaggggtctccgagtatgaacttccagaggacccaaaatgggagtttccaagagataagctgacactgggcaagcccctgggagaaggttgctttgggcaagtggtcatggcggaagcagtgggaattgacaaagacaagcccaaggaggcggtcaccgtggccgtgaagatgttgaaagatgatgccacagagaaagacctttctgatctggtgtcagagatggagatgatgaagatgattgggaaacacaagaatatcataaatcttcttggagcctgcacacaggatgggcctctctatgtcatagttgagtatgcctctaaaggcaacctccgagaatacctccgagcccggaggccacccgggatggagtactcctatgacattaaccgtgttcctgaggagcagatgaccttcaaggacttggtgtcatgcacctaccagctggccagaggcatggagtacttggcttcccaaaaaGACAGCTCGGGGCTCCGTCTCTGGAAACGCCGCTGGTTCGTCCTCTCCGGCCATTGCCTCTTTTATTACAAGGACAGCCGCGAGGAGAGTGTCCTAGGCAGCGTCCTGCTCCCCAGCTACAATATTAGACCAGATGGGCCGGGAGCCCCCCGAGGGCGGCGCTTCACCTTCACCGCAGAGCACCCGGGCATGAGGACCTACGTTTTGGCCGCTGACACCTTAGAAGACCTGCGGGGCTGGCTACGGGCGCTGGGCCGGGCCTCCCGTGCGGAGGGGGACGACTATGGGCAACCCAGGTCACCTGCACGACCCCAGCCCGGGGAGGGCCCCGGCGGCCCCGGTGGTCCCCCGGAGGTGAGCAGAGGGGAAGAGGGGCGCATCTCAGAATCACCGGAAGTGACTCGACTCTCCAGAGGTCGTGGTAGACCCAGGCTGCTCACTCCCAGCCCCACAACCGACCTCCACTCTGGACTCCAGATGCGGAGGGCGAGGAGCCCCGACCTGTTCACCCCCCTCTCTCGCCCTCCCTCGCCTCTGAGCCTCCCCCGTCCCCGTTCTGCCCCTGCGCGGCGACCCCCTGCCCCCTCAGGAGACACAGCACCCCCTGCCCGACCTCACACCCCGTTGAGTCGCATTGATGTCCGACCTCCTCTGGATTGGGGCCCCCAACGCCAGACCCTCTCCCGACCCCCTACTCCCCGCCGAGGACCTCCCTCTGAGGCTGGGGGAGGAAAGCCCCCCAGGAGTCCCCAGCACTGGAGTCAGGAGCCCAGAACACAGGCACACTCTGGCTCCCCCACTTATCTCCAGCTCCCCCCGCGGCCCCCTGGGACCCGGGCCTCCATGGTTTTATTGCCGGGTCCTCCCCTGGAGTCAACTTTCCACCAAAGCTTGGAGACAGATACGCTGCTGACCAAGTTGTGCGGGCAGGACCGGCTTCTGCGGAGGCTGCAGGAGGAGATAGACCAGAAGCAGGAGGAGAAGGAGCAACTAGAAGCAGCTCTGGAGTTGACCCGGCAACAGCTGGGCCAAGCCACCAGGGAGGCTGGGGCTCCCGGGAGGGCCTGGGGTCGCCAGCGCCTCTTGCAGGACCGGCTGGTCAGTGTGAGGGCCACCCTCTGTCACTTGACTCAGGAGCGAGAGAGGGTTTGGGACACGTACAGTGGCCTGGAGCAGGAGCTGGGCACCTTAAGAGAGACGCTGGAGTACCTGCTGCACCTTGGTTCTCCCCAGGACAGAGTGTCTGCTCAGCAGCAGCTGTGGATGGTGGAAGACACGCTGGCAGGTCTGGGTGGCCCCCAGAAACCGCCCCCACACACTGAGCCTGACTCCCCATCTCCCGTGCTCCAGGGCGAGGAGTCCTCAGAGAGGGAGAGCCTGCCAGAGTCCTTGGAACTGAGCTCCCCTAGGTCCCCCGAGACTGACTGGGGGCGGCCTCCTGGAGGCGACAAAGACCTCGCCAGCCCTCACTTAGGTCTTGGGTCTCCGAGGGTCTCCCGGGCTTCCAGCCCTGAGGGTCGCCACCTCCCTTCCCCACAGCTAGGAACCAAGGCCCCGGTGGCCCGGCCCCGGATGAGTGCCCAGGAGCAGCTGGAGCGGATGCGCAGAAACCAGGAATGTGGACGGCCCTTCCCTCGCCCGACCTCCCCCCGGCTTCTCACCCTGGGAAGGACACTGTCCCCAGCCAGACGCCAGCCTGACGTGGAGCAAAGGCCTGTCGTAGGACACTCGGGAGCCCAGAAATGGCTCAGAAGCTCTGGGTCCTGGAGTAGTCCAAGGAACACCACCCCTTACTTGCCGACTTCCGAAGGTCACCGGGAGCGGGTTCTCAGCCTCTCCCAAGCCCTGGCTACTGAGGCGTCGCAGTGGCACAGAATGATGACAGGTGGAAATTTGGACTCCCAGGGAGACCCTCTTCCCGGTGTGCCGCTGCCTCCTTCGGACCCCACGCGCCAGGAGACCCCTCCCCCCAGATCTCCCCCGGTGGCTAATTCGGGTTCCACGGGGTTCTCTCGCCGAGGGAGTGGGCGTGGAGGAGGTCCCACCCCCTGGGGGCCCGCGTGGGATGCCGGGATCGCCCCTCCGGTCCTGCCACAAGACGAGGGGGCATGGCCTCTGCGAGTCACTCTGCTACAATCCAGCTTCTAA chr10|-|[2]121496532-121496722[1]|[0]121498495-121498605[1]|[0]121500826-121500947[2]|[1]121503790-121503941[0]|[2]121515117-121515319[1]|[0]121518682-121518829[0]|[2]121519979-121520169[1]|[0]121538592-121538715[0]|[2]121551290-121551459[1]|[0]121564502-121564579[1]|[0]121565438-121565704[1]|[0]121593709-121593817[0]<==>chr19|-|[2]48837289-48837551[1]|[0]48838017-48838129[2]|[1]48839205-48839263[0]|[2]48841149-48841310[0]|[2]48845370-48845446[1]|[0]48845517-48845616[0]|[2]48847900-48848040[0]|[2]48852228-48852326[0]|[2]48853682-48853831[0]|[2]48854007-48854087[0]|[2]48854217-48854264[0]|[2]48857422-48857496[0]|[2]48858860-48859139[2]|[1]48859469-48859684[2]|[1]48860350-48860459[0]|[2]48861401-48861501[1]|[0]48861620-48861692[0] MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSKYGPDGLPYLKVLKHSGINSSNAEVLALFNVTEADAGEYICKVSNYIGQANQSAWLTVLPKQQAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQKDSSGLRLWKRRWFVLSGHCLFYYKDSREESVLGSVLLPSYNIRPDGPGAPRGRRFTFTAEHPGMRTYVLAADTLEDLRGWLRALGRASRAEGDDYGQPRSPARPQPGEGPGGPGGPPEVSRGEEGRISESPEVTRLSRGRGRPRLLTPSPTTDLHSGLQMRRARSPDLFTPLSRPPSPLSLPRPRSAPARRPPAPSGDTAPPARPHTPLSRIDVRPPLDWGPQRQTLSRPPTPRRGPPSEAGGGKPPRSPQHWSQEPRTQAHSGSPTYLQLPPRPPGTRASMVLLPGPPLESTFHQSLETDTLLTKLCGQDRLLRRLQEEIDQKQEEKEQLEAALELTRQQLGQATREAGAPGRAWGRQRLLQDRLVSVRATLCHLTQERERVWDTYSGLEQELGTLRETLEYLLHLGSPQDRVSAQQQLWMVEDTLAGLGGPQKPPPHTEPDSPSPVLQGEESSERESLPESLELSSPRSPETDWGRPPGGDKDLASPHLGLGSPRVSRASSPEGRHLPSPQLGTKAPVARPRMSAQEQLERMRRNQECGRPFPRPTSPRLLTLGRTLSPARRQPDVEQRPVVGHSGAQKWLRSSGSWSSPRNTTPYLPTSEGHRERVLSLSQALATEASQWHRMMTGGNLDSQGDPLPGVPLPPSDPTRQETPPPRSPPVANSGSTGFSRRGSGRGGGPTPWGPAWDAGIAPPVLPQDEGAWPLRVTLLQSSF* FGFR2--PLEKHA4 1 LH00166:186:2372Y3LT4:8:2212:47129:9183 YES_LDAS GT 1.9329 chr10:121496532:- FGFR2^ENSG00000066468.23 FGFR3_TM|7-13|5.6^C2-set_2|44-79|0.23^Ig_3|45-110|6.4e-10^I-set|46-121|6.5e-08^Ig_2|46-113|1e-07^V-set|47-75|0.87^ig|49-119|3e-06^Ig_5|51-120|9.7e-05^Ig_4|57-113|0.0016^Ig_6|83-110|0.004^Herpes_gE|90-125|0.034^V-set|92-119|0.0026^ig|164-239|4.1e-12^Ig_3|167-235|2.7e-15^Ig_2|169-239|3.3e-13^I-set|172-248|2.1e-17^Ig_5|173-243|0.0056^C2-set_2|173-202|0.00036^Ig_4|188-235|0.072^V-set|193-248|1.5e-07^V-set_CD47|215-248|0.0012^Ig_6|219-236|0.04^C2-set_2|228-248|4.4^I-set|264-357|3.1e-13^Ig_3|266-344|2.2e-12^Ig_2|266-353|4.2e-07^V-set|267-358|3.1e-06^ig|269-350|1.3e-08^Ig_5|271-346|0.023^C2-set_2|281-295|0.85^Ig_4|315-353|0.22^Herpes_gE|319-406|0.001^V-set_CD47|326-345|0.3^Ig_6|330-363|0.0011^FGFR3_TM|372-402|4e-19^Pkinase|379-420|3.6^C2-set_2|431-453|6.2^PK_Tyr_Ser-Thr|482-758|1.2e-107^Pkinase|485-756|5.8e-48^Kinase-like|509-535|2.2^Herpes_gE|514-564|2.4^Pkinase_fungal|601-690|0.00016^Kinase-like|607-700|0.00013 DHR10|354-411|1.2e-05^FUSC|366-460|0.0037^DHR10|430-465|1.8^DHR10|590-603|0.3 INFRAME AG 1.8323 chr19:48861692:- PLEKHA4^ENSG00000105559.12 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr10--chr19]""]" False chr10:121496532-chr19:48861692 1.0 0.0 Read count too low: 1 < 8 1 659_bdp STAR-Fusion
fp_audit 659_bdp fusion FGFR2--TULP2 FGFR2--TULP2 FGFR2--TULP2 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr10 chr19 FGFR2 TULP2 121496532 48885560 chr10:121496532-chr19:48885560 -,- Arriba 1 0 12 12 PASS in-frame FGFR2--TULP2 FGFR2--TULP2 confidence:high;duplicates(8),mismatches(1) high translocation CDS/splice-site CDS/splice-site 1851 46 8.0 1.0 0.0 0.0 9 3 True duplicates(8),mismatches(1) PASS False chr10:121496532 chr19:48885560 chr10:121496532-chr19:48885560 . . high 1851 46 upstream downstream 0 duplicates(8),mismatches(1) CCTCTCTATGTCATAGTTGAGTATGCCTCTAAAGGCAACCTCCGAGAATACCTCCGAGCCCGGAGGCCACCCGGGATGGAGTACTCCTATGACATTAACCGTGTTCCTGAGGAGCAGATGACCTTCAAGGACTTGGTGTCATGCACCTACCAGCTGGCCAGAGGCATGGAGTACTTGGCTTCCCAAAAA|CGCTTCCTCCTGGCTGGGCGAAAGAGAAGAAGGAGCAAAACTTCTAATTACCTCATCTCCCTGGATCCTACACACCTATCTCGGGACGGGGACAATTTCGTGGGC FGFR2 TULP2 ENSG00000066468 ENSG00000104804 PLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQK|RFLLAGRKRRRSKTSNYLISLDPTHLSRDGDNFV LH00166:186:2372Y3LT4:8:1127:37987:20365,LH00166:186:2372Y3LT4:8:1206:11978:12392,LH00166:186:2372Y3LT4:8:1315:22212:5568,LH00166:186:2372Y3LT4:8:1374:8232:21262,LH00166:186:2372Y3LT4:8:1484:17593:7684,LH00166:186:2372Y3LT4:8:1484:17601:7670,LH00166:186:2372Y3LT4:8:2211:4592:24064,LH00166:186:2372Y3LT4:8:2244:17131:1196,LH00166:186:2372Y3LT4:8:2250:30245:17941,LH00166:186:2372Y3LT4:8:2281:33611:8553,LH00166:186:2372Y3LT4:8:2343:28943:11817,LH00166:186:2372Y3LT4:8:2349:37615:3186,LH00166:186:2372Y3LT4:8:2362:2149:4671,LH00166:186:2372Y3LT4:8:2417:41345:12700,LH00166:186:2372Y3LT4:8:2440:7383:13065,LH00166:186:2372Y3LT4:8:1141:18013:5274,LH00166:186:2372Y3LT4:8:1235:35504:7376,LH00166:186:2372Y3LT4:8:2129:18345:14059,LH00166:186:2372Y3LT4:8:2205:20853:7530,LH00166:186:2372Y3LT4:8:2209:25707:13023,LH00166:186:2372Y3LT4:8:2381:25343:3144 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(50%)|Tub_family(85%) CDS/splice-site CDS/splice-site 9 3 -/- -/- . 12 ENST00000613048 ENST00000221399 translocation 0.004838709677419355 0.061224489795918366 0.03303159973666886 659_bdp Arriba
fp_audit 659_bdp fusion FGFR2--TULP2 FGFR2--TULP2 FGFR2--TULP2 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr10 chr19 FGFR2 TULP2 121496532 48882203 chr10:121496532-chr19:48882203 -,- Arriba 1 0 5 5 PASS in-frame FGFR2--TULP2 FGFR2--TULP2 confidence:medium;duplicates(5),mismatches(1) medium translocation CDS/splice-site CDS/splice-site 1851 257 5.0 1.0 0.0 0.0 4 1 True duplicates(5),mismatches(1) FAIL False chr10:121496532 chr19:48882203 chr10:121496532-chr19:48882203 . . medium 1851 257 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(5.0<8.0) duplicates(5),mismatches(1) CACACAGGATG___GGCCTCTCTATGTCATAGTTGAGTATGCCTCTAAAGGCAACCTCCGAGAATACCTCCGAGCCCGGAGGCCACCCGGGATGGAGTACTCCTATGACATTAACCGTGTTCCTGAGGAGCAGATGACCTTCAAGGACTTGGTGTCATGCACCTACCAGCTGGCCAGAGGCATGGAGTACTTGGCTTCCCAAAAA|GAACAGGAGTCGCTACTGAGTCGTTACCAACGTGGGGACAAACAAGGGTTGCTTTTGTTGCACAACAAAACCCCGTCGTGGGACAAGGAGAACGGTGTCTACACGCTCAATTTCCATGGTCGAGTCACTCGGGCTTCG FGFR2 TULP2 ENSG00000066468 ENSG00000104804 TQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQK|EQESLLSRYQRGDKQGLLLLHNKTPSWDKENGVYTLNFHGRVTRA LH00166:186:2372Y3LT4:8:1162:32260:7614,LH00166:186:2372Y3LT4:8:1174:30682:2527,LH00166:186:2372Y3LT4:8:1246:12067:2037,LH00166:186:2372Y3LT4:8:1297:13984:2079,LH00166:186:2372Y3LT4:8:1383:43586:4755,LH00166:186:2372Y3LT4:8:1387:9268:19720,LH00166:186:2372Y3LT4:8:1419:34509:22887,LH00166:186:2372Y3LT4:8:2281:30787:24989,LH00166:186:2372Y3LT4:8:1107:20214:5834,LH00166:186:2372Y3LT4:8:2279:36685:28814,LH00166:186:2372Y3LT4:8:2335:20214:16484 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(50%)|Tub_family(42%) CDS/splice-site CDS/splice-site 4 1 -/- -/- . 5 ENST00000613048 ENST00000221399 translocation 0.00215633423180593 0.003875968992248062 0.003016151612026996 659_bdp Arriba
fp_audit 659_bdp fusion FGFR2--TULP2 FGFR2--TULP2 FGFR2--TULP2 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr10 chr19 FGFR2 TULP2 121496532 48885560 chr10:121496532-chr19:48885560 -,- STAR-Fusion 1 0 14 0.0834 14 PASS in-frame FGFR2--TULP2 FGFR2--TULP2 "[""INTERCHROMOSOMAL[chr10--chr19]""]" ONLY_REF_SPLICE YES_LDAS 1.5058 False False False GT AG 14 True 1 ENST00000369056.5 1-1866 ENST00000221399.8 949-1563 0.0834 PASS atggtcagctggggtcgtttcatctgcctggtcgtggtcaccatggcaaccttgtccctggcccggccctccttcagtttagttgaggataccacattagagccagaagagccaccaaccaaataccaaatctctcaaccagaagtgtacgtggctgcgccaggggagtcgctagaggtgcgctgcctgttgaaagatgccgccgtgatcagttggactaaggatggggtgcacttggggcccaacaataggacagtgcttattggggagtacttgcagataaagggcgccacgcctagagactccggcctctatgcttgtactgccagtaggactgtagacagtgaaacttggtacttcatggtgaatgtcacagatgccatctcatccggagatgatgaggatgacaccgatggtgcggaagattttgtcagtgagaacagtaacaacaagagagcaccatactggaccaacacagaaaagatggaaaagcggctccatgctgtgcctgcggccaacactgtcaagtttcgctgcccagccggggggaacccaatgccaaccatgcggtggctgaaaaacgggaaggagtttaagcaggagcatcgcattggaggctacaaggtacgaaaccagcactggagcctcattatggaaagtgtggtcccatctgacaagggaaattatacctgtgtagtggagaatgaatacgggtccatcaatcacacgtaccacctggatgttgtggagcgatcgcctcaccggcccatcctccaagccggactgccggcaaatgcctccacagtggtcggaggagacgtagagtttgtctgcaaggtttacagtgatgcccagccccacatccagtggatcaagcacgtggaaaagaacggcagtaaatacgggcccgacgggctgccctacctcaaggttctcaagcactcggggataaatagttccaatgcagaagtgctggctctgttcaatgtgaccgaggcggatgctggggaatatatatgtaaggtctccaattatatagggcaggccaaccagtctgcctggctcactgtcctgccaaaacagcaagcgcctggaagagaaaaggagattacagcttccccagactacctggagatagccatttactgcataggggtcttcttaatcgcctgtatggtggtaacagtcatcctgtgccgaatgaagaacacgaccaagaagccagacttcagcagccagccggctgtgcacaagctgaccaaacgtatccccctgcggagacaggtaacagtttcggctgagtccagctcctccatgaactccaacaccccgctggtgaggataacaacacgcctctcttcaacggcagacacccccatgctggcaggggtctccgagtatgaacttccagaggacccaaaatgggagtttccaagagataagctgacactgggcaagcccctgggagaaggttgctttgggcaagtggtcatggcggaagcagtgggaattgacaaagacaagcccaaggaggcggtcaccgtggccgtgaagatgttgaaagatgatgccacagagaaagacctttctgatctggtgtcagagatggagatgatgaagatgattgggaaacacaagaatatcataaatcttcttggagcctgcacacaggatgggcctctctatgtcatagttgagtatgcctctaaaggcaacctccgagaatacctccgagcccggaggccacccgggatggagtactcctatgacattaaccgtgttcctgaggagcagatgaccttcaaggacttggtgtcatgcacctaccagctggccagaggcatggagtacttggcttcccaaaaaCGCTTCCTCCTGGCTGGGCGAAAGAGAAGAAGGAGCAAAACTTCTAATTACCTCATCTCCCTGGATCCTACACACCTATCTCGGGACGGGGACAATTTCGTGGGCAAAGTCAGATCCAATGTCTTCAGCACCAAGTTCACCATCTTTGACAATGGGGTGAATCCTGACCGGGAGCATTTAACCAGGAATACTGCCCGGATCAGACAGGAGCTGGGGGCTGTGTGTTATGAGCCCAACGTCTTAGGATACCTGGGGCCTCGGAAAATGACTGTGATTCTCCCAGGAACCAACAGCCAGAACCAGCGAATCAATGTCCAGCCACTAAATGAACAGGAGTCGCTACTGAGTCGTTACCAACGTGGGGACAAACAAGGGTTGCTTTTGTTGCACAACAAAACCCCGTCGTGGGACAAGGAGAACGGTGTCTACACGCTCAATTTCCATGGTCGAGTCACTCGGGCTTCGGTGAAGAACTTCCAAATCGTGGATCCCAAACACCAAGAACATCTGGTGCTCCAGTTCGGCCGAGTGGGCCCAGACACATTCACCATGGACTTCTGCTTTCCATTTAGCCCGCTCCAGGCCTTCAGCATCTGCTTGTCCAGTTTCAATTAG chr10|-|[2]121496532-121496722[1]|[0]121498495-121498605[1]|[0]121500826-121500947[2]|[1]121503790-121503941[0]|[2]121515117-121515319[1]|[0]121518682-121518829[0]|[2]121519979-121520169[1]|[0]121538592-121538715[0]|[2]121551290-121551459[1]|[0]121564502-121564579[1]|[0]121565438-121565704[1]|[0]121593709-121593817[0]<==>chr19|-|[2]48881011-48881126[1]|[0]48882032-48882203[0]|[2]48883754-48883852[0]|[2]48883932-48884046[2]|[1]48885448-48885560[0] MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSKYGPDGLPYLKVLKHSGINSSNAEVLALFNVTEADAGEYICKVSNYIGQANQSAWLTVLPKQQAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQKRFLLAGRKRRRSKTSNYLISLDPTHLSRDGDNFVGKVRSNVFSTKFTIFDNGVNPDREHLTRNTARIRQELGAVCYEPNVLGYLGPRKMTVILPGTNSQNQRINVQPLNEQESLLSRYQRGDKQGLLLLHNKTPSWDKENGVYTLNFHGRVTRASVKNFQIVDPKHQEHLVLQFGRVGPDTFTMDFCFPFSPLQAFSICLSSFN* FGFR2--TULP2 14 LH00166:186:2372Y3LT4:8:1127:37987:20365,LH00166:186:2372Y3LT4:8:1141:18013:5274,LH00166:186:2372Y3LT4:8:1206:11978:12392,LH00166:186:2372Y3LT4:8:1235:35504:7376,LH00166:186:2372Y3LT4:8:1315:22212:5568,LH00166:186:2372Y3LT4:8:1374:8232:21262,LH00166:186:2372Y3LT4:8:1484:17593:7684,LH00166:186:2372Y3LT4:8:2205:20853:7530,LH00166:186:2372Y3LT4:8:2211:4592:24064,LH00166:186:2372Y3LT4:8:2244:17131:1196,LH00166:186:2372Y3LT4:8:2250:30245:17941,LH00166:186:2372Y3LT4:8:2281:33611:8553,LH00166:186:2372Y3LT4:8:2349:37615:3186,LH00166:186:2372Y3LT4:8:2417:41345:12700 YES_LDAS GT 1.9329 chr10:121496532:- FGFR2^ENSG00000066468.23 FGFR3_TM|7-13|5.6^C2-set_2|44-79|0.23^Ig_3|45-110|6.4e-10^I-set|46-121|6.5e-08^Ig_2|46-113|1e-07^V-set|47-75|0.87^ig|49-119|3e-06^Ig_5|51-120|9.7e-05^Ig_4|57-113|0.0016^Ig_6|83-110|0.004^Herpes_gE|90-125|0.034^V-set|92-119|0.0026^ig|164-239|4.1e-12^Ig_3|167-235|2.7e-15^Ig_2|169-239|3.3e-13^I-set|172-248|2.1e-17^Ig_5|173-243|0.0056^C2-set_2|173-202|0.00036^Ig_4|188-235|0.072^V-set|193-248|1.5e-07^V-set_CD47|215-248|0.0012^Ig_6|219-236|0.04^C2-set_2|228-248|4.4^I-set|264-357|3.1e-13^Ig_3|266-344|2.2e-12^Ig_2|266-353|4.2e-07^V-set|267-358|3.1e-06^ig|269-350|1.3e-08^Ig_5|271-346|0.023^C2-set_2|281-295|0.85^Ig_4|315-353|0.22^Herpes_gE|319-406|0.001^V-set_CD47|326-345|0.3^Ig_6|330-363|0.0011^FGFR3_TM|372-402|4e-19^Pkinase|379-420|3.6^C2-set_2|431-453|6.2^PK_Tyr_Ser-Thr|482-758|1.2e-107^Pkinase|485-756|5.8e-48^Kinase-like|509-535|2.2^Herpes_gE|514-564|2.4^Pkinase_fungal|601-690|0.00016^Kinase-like|607-700|0.00013 . INFRAME AG 1.5058 chr19:48885560:- TULP2^ENSG00000104804.8 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr10--chr19]""]" False chr10:121496532-chr19:48885560 14.0 0.0 14 659_bdp STAR-Fusion
fp_audit 659_bdp fusion FGFR2--TULP2 FGFR2--TULP2 FGFR2--TULP2 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr10 chr19 FGFR2 TULP2 121496532 48882203 chr10:121496532-chr19:48882203 -,- STAR-Fusion 1 0 5 0.0298 5 FAIL in-frame FGFR2--TULP2 FGFR2--TULP2 "[""INTERCHROMOSOMAL[chr10--chr19]""]" ONLY_REF_SPLICE YES_LDAS 1.9086 False False False GT AG 5 True Read count too low: 5 < 8 0 ENST00000369056.5 1-1866 ENST00000221399.8 1276-1563 0.0298 FAIL atggtcagctggggtcgtttcatctgcctggtcgtggtcaccatggcaaccttgtccctggcccggccctccttcagtttagttgaggataccacattagagccagaagagccaccaaccaaataccaaatctctcaaccagaagtgtacgtggctgcgccaggggagtcgctagaggtgcgctgcctgttgaaagatgccgccgtgatcagttggactaaggatggggtgcacttggggcccaacaataggacagtgcttattggggagtacttgcagataaagggcgccacgcctagagactccggcctctatgcttgtactgccagtaggactgtagacagtgaaacttggtacttcatggtgaatgtcacagatgccatctcatccggagatgatgaggatgacaccgatggtgcggaagattttgtcagtgagaacagtaacaacaagagagcaccatactggaccaacacagaaaagatggaaaagcggctccatgctgtgcctgcggccaacactgtcaagtttcgctgcccagccggggggaacccaatgccaaccatgcggtggctgaaaaacgggaaggagtttaagcaggagcatcgcattggaggctacaaggtacgaaaccagcactggagcctcattatggaaagtgtggtcccatctgacaagggaaattatacctgtgtagtggagaatgaatacgggtccatcaatcacacgtaccacctggatgttgtggagcgatcgcctcaccggcccatcctccaagccggactgccggcaaatgcctccacagtggtcggaggagacgtagagtttgtctgcaaggtttacagtgatgcccagccccacatccagtggatcaagcacgtggaaaagaacggcagtaaatacgggcccgacgggctgccctacctcaaggttctcaagcactcggggataaatagttccaatgcagaagtgctggctctgttcaatgtgaccgaggcggatgctggggaatatatatgtaaggtctccaattatatagggcaggccaaccagtctgcctggctcactgtcctgccaaaacagcaagcgcctggaagagaaaaggagattacagcttccccagactacctggagatagccatttactgcataggggtcttcttaatcgcctgtatggtggtaacagtcatcctgtgccgaatgaagaacacgaccaagaagccagacttcagcagccagccggctgtgcacaagctgaccaaacgtatccccctgcggagacaggtaacagtttcggctgagtccagctcctccatgaactccaacaccccgctggtgaggataacaacacgcctctcttcaacggcagacacccccatgctggcaggggtctccgagtatgaacttccagaggacccaaaatgggagtttccaagagataagctgacactgggcaagcccctgggagaaggttgctttgggcaagtggtcatggcggaagcagtgggaattgacaaagacaagcccaaggaggcggtcaccgtggccgtgaagatgttgaaagatgatgccacagagaaagacctttctgatctggtgtcagagatggagatgatgaagatgattgggaaacacaagaatatcataaatcttcttggagcctgcacacaggatgggcctctctatgtcatagttgagtatgcctctaaaggcaacctccgagaatacctccgagcccggaggccacccgggatggagtactcctatgacattaaccgtgttcctgaggagcagatgaccttcaaggacttggtgtcatgcacctaccagctggccagaggcatggagtacttggcttcccaaaaaGAACAGGAGTCGCTACTGAGTCGTTACCAACGTGGGGACAAACAAGGGTTGCTTTTGTTGCACAACAAAACCCCGTCGTGGGACAAGGAGAACGGTGTCTACACGCTCAATTTCCATGGTCGAGTCACTCGGGCTTCGGTGAAGAACTTCCAAATCGTGGATCCCAAACACCAAGAACATCTGGTGCTCCAGTTCGGCCGAGTGGGCCCAGACACATTCACCATGGACTTCTGCTTTCCATTTAGCCCGCTCCAGGCCTTCAGCATCTGCTTGTCCAGTTTCAATTAG chr10|-|[2]121496532-121496722[1]|[0]121498495-121498605[1]|[0]121500826-121500947[2]|[1]121503790-121503941[0]|[2]121515117-121515319[1]|[0]121518682-121518829[0]|[2]121519979-121520169[1]|[0]121538592-121538715[0]|[2]121551290-121551459[1]|[0]121564502-121564579[1]|[0]121565438-121565704[1]|[0]121593709-121593817[0]<==>chr19|-|[2]48881011-48881126[1]|[0]48882032-48882203[0] MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSKYGPDGLPYLKVLKHSGINSSNAEVLALFNVTEADAGEYICKVSNYIGQANQSAWLTVLPKQQAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQKEQESLLSRYQRGDKQGLLLLHNKTPSWDKENGVYTLNFHGRVTRASVKNFQIVDPKHQEHLVLQFGRVGPDTFTMDFCFPFSPLQAFSICLSSFN* FGFR2--TULP2 5 LH00166:186:2372Y3LT4:8:1107:20214:5834,LH00166:186:2372Y3LT4:8:1162:32260:7614,LH00166:186:2372Y3LT4:8:1246:12067:2037,LH00166:186:2372Y3LT4:8:1297:13984:2079,LH00166:186:2372Y3LT4:8:1387:9268:19720 YES_LDAS GT 1.9329 chr10:121496532:- FGFR2^ENSG00000066468.23 FGFR3_TM|7-13|5.6^C2-set_2|44-79|0.23^Ig_3|45-110|6.4e-10^I-set|46-121|6.5e-08^Ig_2|46-113|1e-07^V-set|47-75|0.87^ig|49-119|3e-06^Ig_5|51-120|9.7e-05^Ig_4|57-113|0.0016^Ig_6|83-110|0.004^Herpes_gE|90-125|0.034^V-set|92-119|0.0026^ig|164-239|4.1e-12^Ig_3|167-235|2.7e-15^Ig_2|169-239|3.3e-13^I-set|172-248|2.1e-17^Ig_5|173-243|0.0056^C2-set_2|173-202|0.00036^Ig_4|188-235|0.072^V-set|193-248|1.5e-07^V-set_CD47|215-248|0.0012^Ig_6|219-236|0.04^C2-set_2|228-248|4.4^I-set|264-357|3.1e-13^Ig_3|266-344|2.2e-12^Ig_2|266-353|4.2e-07^V-set|267-358|3.1e-06^ig|269-350|1.3e-08^Ig_5|271-346|0.023^C2-set_2|281-295|0.85^Ig_4|315-353|0.22^Herpes_gE|319-406|0.001^V-set_CD47|326-345|0.3^Ig_6|330-363|0.0011^FGFR3_TM|372-402|4e-19^Pkinase|379-420|3.6^C2-set_2|431-453|6.2^PK_Tyr_Ser-Thr|482-758|1.2e-107^Pkinase|485-756|5.8e-48^Kinase-like|509-535|2.2^Herpes_gE|514-564|2.4^Pkinase_fungal|601-690|0.00016^Kinase-like|607-700|0.00013 . INFRAME AG 1.9086 chr19:48882203:- TULP2^ENSG00000104804.8 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr10--chr19]""]" False chr10:121496532-chr19:48882203 5.0 0.0 Read count too low: 5 < 8 5 659_bdp STAR-Fusion
fp_audit 659_bdp fusion IQGAP1--PPARG IQGAP1--PPARG IQGAP1--PPARG FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr15 chr3 IQGAP1 PPARG 90390873 12312380 chr15:90390873-chr3:12312380 +,+ Arriba 1 1 244 245 PASS out-of-frame IQGAP1--PPARG IQGAP1--PPARG confidence:high;duplicates(100),mismappers(1),mismatches(13) high translocation CDS/splice-site 5'UTR/splice-site 4527 339 100.0 13.0 1.0 0.0 229 15 False duplicates(100),mismappers(1),mismatches(13) PASS False chr15:90390873 chr3:12312380 chr15:90390873-chr3:12312380 . . high 4527 339 downstream upstream 1 duplicates(100),mismappers(1),mismatches(13) GCGCCTCCAAGGTTTCACGGCTTCCTCAGCAGAGACTCGGGCTCGTCCGCCATGTCCGCCGCAGACGAGGTTGACGGGCTGGGCGTGGCCCGGCCGCACTATGGCT___CTGTCCTGGATAATGAAAGACTTACTGCAGAGGAGATGGATGAAAGGAGACGTCAGAACGTGGCTTATGAGTACCTTTGTCATTTGGAAGAAGCGAAGAG|ATTTGAAAGAAGCCAACACTAAACCACAAATATACAACAAGGCCATTTTCTCAAACGAGAGTCAGCCTTTAACG IQGAP1 PPARG ENSG00000140575 ENSG00000132170 MSAADEVDGLGVARPHYGSVLDNERLTAEEMDERRRQNVAYEYLCHLEEAKr|fersqh* 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166:186:2372Y3LT4:8:2130:15489:9337,LH00166:186:2372Y3LT4:8:2131:10999:2625,LH00166:186:2372Y3LT4:8:2131:30148:22845,LH00166:186:2372Y3LT4:8:2134:16630:11902,LH00166:186:2372Y3LT4:8:2135:21718:29627,LH00166:186:2372Y3LT4:8:2140:48755:26909,LH00166:186:2372Y3LT4:8:2140:51563:17198,LH00166:186:2372Y3LT4:8:2144:14324:27974,LH00166:186:2372Y3LT4:8:2146:37664:12826,LH00166:186:2372Y3LT4:8:2147:9033:18838,LH00166:186:2372Y3LT4:8:2151:33756:24443,LH00166:186:2372Y3LT4:8:2152:35488:12112,LH00166:186:2372Y3LT4:8:2154:4624:19048,LH00166:186:2372Y3LT4:8:2156:23013:21808,LH00166:186:2372Y3LT4:8:2156:28991:5736,LH00166:186:2372Y3LT4:8:2158:46223:17955,LH00166:186:2372Y3LT4:8:2160:8750:14900,LH00166:186:2372Y3LT4:8:2161:36976:18585,LH00166:186:2372Y3LT4:8:2167:43011:7320,LH00166:186:2372Y3LT4:8:2174:1372:1168,LH00166:186:2372Y3LT4:8:2178:43286:28814,LH00166:186:2372Y3LT4:8:2182:18313:20813,LH00166:186:2372Y3LT4:8:2185:2068:28072,LH00166:186:2372Y3LT4:8:2186:14308:20575,LH00166:186:2372Y3LT4:8:2186:3289:2275,LH00166:186:2372Y3LT4:8:2187:34355:2135,LH00166:186:2372Y3LT4:8:2188:39411:25353,LH00166:186:2372Y3LT4:8:2194:26047:24344,LH00166:186:2372Y3LT4:8:2197:31006:27497,LH00166:186:2372Y3LT4:8:2203:20303:3802,LH00166:186:2372Y3LT4:8:2203:4843:25059,LH00166:186:2372Y3LT4:8:2207:16298:19903,LH00166:186:2372Y3LT4:8:2207:9559:28436,LH00166:186:2372Y3LT4:8:2210:32583:18852,LH00166:186:2372Y3LT4:8:2214:39541:18824,LH00166:186:2372Y3LT4:8:2216:32810:16526,LH00166:186:2372Y3LT4:8:2217:1251:23209,LH00166:186:2372Y3LT4:8:2219:43966:29235,LH00166:186:2372Y3LT4:8:2223:46741:5988,LH00166:186:2372Y3LT4:8:2224:40374:13569,LH00166:186:2372Y3LT4:8:2225:19558:29249,LH00166:186:2372Y3LT4:8:2225:21120:1995,LH00166:186:2372Y3LT4:8:2225:34396:1701,LH00166:186:2372Y3LT4:8:2226:29695:12504,LH00166:186:2372Y3LT4:8:2231:7496:10206,LH00166:186:2372Y3LT4:8:2235:28579:18025,LH00166:186:2372Y3LT4:8:2235:37146:27792,LH00166:186:2372Y3LT4:8:2236:50778:9505,LH00166:186:2372Y3LT4:8:2237:35423:2303,LH00166:186:2372Y3LT4:8:2237:35431:2289,LH00166:186:2372Y3LT4:8:2238:14526:28828,LH00166:186:2372Y3LT4:8:2239:35350:8286,LH00166:186:2372Y3LT4:8:2242:18232:9828,LH00166:186:2372Y3LT4:8:2250:40123:27035,LH00166:186:2372Y3LT4:8:2251:41579:19384,LH00166:186:2372Y3LT4:8:2253:10983:18067,LH00166:186:2372Y3LT4:8:2259:15926:19903,LH00166:186:2372Y3LT4:8:2262:51012:27539,LH00166:186:2372Y3LT4:8:2264:24890:29543,LH00166:186:2372Y3LT4:8:2264:51304:15124,LH00166:186:2372Y3LT4:8:2264:8241:9029,LH00166:186:2372Y3LT4:8:2265:28207:13009,LH00166:186:2372Y3LT4:8:2266:41312:18978,LH00166:186:2372Y3LT4:8:2266:9268:4699,LH00166:186:2372Y3LT4:8:2268:22050:11061,LH00166:186:2372Y3LT4:8:2274:43408:8791,LH00166:186:2372Y3LT4:8:2282:51773:22775,LH00166:186:2372Y3LT4:8:2285:25052:6787,LH00166:186:2372Y3LT4:8:2286:19227:4517,LH00166:186:2372Y3LT4:8:2289:5870:28212,LH00166:186:2372Y3LT4:8:2290:46733:1799,LH00166:186:2372Y3LT4:8:2296:27875:13695,LH00166:186:2372Y3LT4:8:2298:36531:8903,LH00166:186:2372Y3LT4:8:2304:10174:24625,LH00166:186:2372Y3LT4:8:2310:13758:13681,LH00166:186:2372Y3LT4:8:2312:34436:15867,LH00166:186:2372Y3LT4:8:2320:34646:1462,LH00166:186:2372Y3LT4:8:2321:47971:29669,LH00166:186:2372Y3LT4:8:2323:39581:26460,LH00166:186:2372Y3LT4:8:2330:38052:25409,LH00166:186:2372Y3LT4:8:2344:20570:21080,LH00166:186:2372Y3LT4:8:2344:37454:7922,LH00166:186:2372Y3LT4:8:2347:25521:28198,LH00166:186:2372Y3LT4:8:2349:3589:16021,LH00166:186:2372Y3LT4:8:2354:10223:20982,LH00166:186:2372Y3LT4:8:2376:34404:3985,LH00166:186:2372Y3LT4:8:2376:44184:22775,LH00166:186:2372Y3LT4:8:2379:22681:22859,LH00166:186:2372Y3LT4:8:2381:26564:11033,LH00166:186:2372Y3LT4:8:2383:42316:25395,LH00166:186:2372Y3LT4:8:2384:23879:5652,LH00166:186:2372Y3LT4:8:2389:24655:22971,LH00166:186:2372Y3LT4:8:2394:13823:15587,LH00166:186:2372Y3LT4:8:2410:18296:18487,LH00166:186:2372Y3LT4:8:2420:11841:2794,LH00166:186:2372Y3LT4:8:2426:26022:4825,LH00166:186:2372Y3LT4:8:2429:1186:13345,LH00166:186:2372Y3LT4:8:2429:28983:28814,LH00166:186:2372Y3LT4:8:2430:40487:18557,LH00166:186:2372Y3LT4:8:2436:23167:18768,LH00166:186:2372Y3LT4:8:2449:34129:7796,LH00166:186:2372Y3LT4:8:2451:22892:22859,LH00166:186:2372Y3LT4:8:2457:45778:17969,LH00166:186:2372Y3LT4:8:2474:15109:17198,LH00166:186:2372Y3LT4:8:2476:34258:11411,LH00166:186:2372Y3LT4:8:2481:33222:10262,LH00166:186:2372Y3LT4:8:2481:45997:23167,LH00166:186:2372Y3LT4:8:2484:30197:5302,LH00166:186:2372Y3LT4:8:2488:48869:7740,LH00166:186:2372Y3LT4:8:2490:39897:6521,LH00166:186:2372Y3LT4:8:2491:49540:22159,LH00166:186:2372Y3LT4:8:1427:15675:11537 out-of-frame Calponin_homology_(CH)_domain(4%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%),PPAR_gamma_N-terminal_region(100%),Zinc_finger__C4_type_(two_domains)(100%) CDS/splice-site 5'UTR/splice-site 229 15 +/+ +/+ . 245 ENST00000268182 ENST00000397010 translocation 0.048249763481551564 0.04372355430183357 0.04598665889169257 659_bdp Arriba
fp_audit 659_bdp fusion IQGAP1--PPARG IQGAP1--PPARG IQGAP1--PPARG FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr15 chr3 IQGAP1 PPARG 90390873 12379704 chr15:90390873-chr3:12379704 +,+ Arriba 1 1 9 10 PASS out-of-frame IQGAP1--PPARG IQGAP1--PPARG confidence:medium;duplicates(6) medium translocation CDS/splice-site CDS/splice-site 4527 1263 6.0 0.0 0.0 0.0 2 7 False duplicates(6) FAIL False chr15:90390873 chr3:12379704 chr15:90390873-chr3:12379704 . . medium 4527 1263 downstream upstream 1 confidence_below_min(medium<high) duplicates(6) CCTCAGCAGAGACTCGGGCTCGTCCGCCATGTCCGCCGCAGACGAGGTTGACGGGCTGGGCGTGGCCCGGCCGCACTATGGCT___CTGTCCTGGATAATGAAAGACTTACTGCAGAGGAGATGGATGAAAGGAGACGTCAGAACGTGGCTTATGAGTACCTTTGTCATTTGGAAGAAGCGAAGAG|AAATGACCATGGTTGACACAGAGATGCCATTCTGGCCCACCAACTTTGGGATCAGCTCCGTGGATCTCTCCGTAATGGAAGACCACTCCCACTCCTTTGATATCAAGCCCTTCACTACTGTTGACTTCTCCAGCATTTCTACTCCACATTACGAAGACATTCCATTCACAAGAACAGATCCAGTGGTTGCAGATTACAAGTATGACC IQGAP1 PPARG ENSG00000140575 ENSG00000132170 MSAADEVDGLGVARPHYGSVLDNERLTAEEMDERRRQNVAYEYLCHLEEAKr|ndhg* LH00166:186:2372Y3LT4:8:1101:21775:14564,LH00166:186:2372Y3LT4:8:1101:21783:14550,LH00166:186:2372Y3LT4:8:1117:30407:11243,LH00166:186:2372Y3LT4:8:1163:42688:17380,LH00166:186:2372Y3LT4:8:1178:17398:17913,LH00166:186:2372Y3LT4:8:1318:47987:26166,LH00166:186:2372Y3LT4:8:1318:47995:26152,LH00166:186:2372Y3LT4:8:1318:48011:26152,LH00166:186:2372Y3LT4:8:2284:29655:5456,LH00166:186:2372Y3LT4:8:2367:33231:6128,LH00166:186:2372Y3LT4:8:2485:48885:29711,LH00166:186:2372Y3LT4:8:1427:23401:20043,LH00166:186:2372Y3LT4:8:2195:20570:1098,LH00166:186:2372Y3LT4:8:2260:5312:10402,LH00166:186:2372Y3LT4:8:2470:12763:26054,LH00166:186:2372Y3LT4:8:1427:15675:11537 out-of-frame Calponin_homology_(CH)_domain(4%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%),PPAR_gamma_N-terminal_region(100%),Zinc_finger__C4_type_(two_domains)(100%) CDS/splice-site CDS/splice-site 2 7 +/+ +/+ . 10 ENST00000268182 ENST00000287820 translocation 0.0005519372999227288 0.0059031877213695395 0.003227562510646134 659_bdp Arriba
fp_audit 659_bdp fusion IQGAP1--PPARG IQGAP1--PPARG IQGAP1--PPARG FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bdp altera_exact 1023 clinical patient Esophageal Esophageal 71 unknown False 659_bdp_T1_TRNA_1 tRNA altera_exact ssf 168.00 83.46 False cgp_rna_exp0034_lib_s05 200.00 79.83 cgp_rna_exp0034 E01 False 659_bdp_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bdp_T1_TRNA_1_B2372Y3LT4_1 BND chr15 chr3 IQGAP1 PPARG 90390873 12312380 chr15:90390873-chr3:12312380 +,+ STAR-Fusion 1 1 264 1.5794 265 PASS IQGAP1--PPARG IQGAP1--PPARG "[""INTERCHROMOSOMAL[chr15--chr3]""]" ONLY_REF_SPLICE YES_LDAS 1.2867 False False False GT AG 264 1 . . . . 1.5794 PASS . . . IQGAP1--PPARG 264 LH00166:186:2372Y3LT4:8:1101:23167:12882,LH00166:186:2372Y3LT4:8:1102:37494:28814,LH00166:186:2372Y3LT4:8:1103:49718:27539,LH00166:186:2372Y3LT4:8:1105:11201:20883,LH00166:186:2372Y3LT4:8:1109:16856:18543,LH00166:186:2372Y3LT4:8:1111:21848:1434,LH00166:186:2372Y3LT4:8:1111:31362:23069,LH00166:186:2372Y3LT4:8:1112:25982:10276,LH00166:186:2372Y3LT4:8:1112:44387:26881,LH00166:186:2372Y3LT4:8:1113:15805:9576,LH00166:186:2372Y3LT4:8:1114:14041:19328,LH00166:186:2372Y3LT4:8:1114:24323:27834,LH00166:186:2372Y3LT4:8:1118:36175:24849,LH00166:186:2372Y3LT4:8:1122:34565:9393,LH00166:186:2372Y3LT4:8:1123:37429:3004,LH00166:186:2372Y3LT4:8:1128:12771:23209,LH00166:186:2372Y3LT4:8:1137:9802:22215,LH00166:186:2372Y3LT4:8:1139:19380:23616,LH00166:186:2372Y3LT4:8:1143:15077:22495,LH00166:186:2372Y3LT4:8:1145:14793:14774,LH00166:186:2372Y3LT4:8:1148:14575:2317,LH00166:186:2372Y3LT4:8:1148:5005:23798,LH00166:186:2372Y3LT4:8:1148:8847:8370,LH00166:186:2372Y3LT4:8:1149:27527:11467,LH00166:186:2372Y3LT4:8:1150:5733:2527,LH00166:186:2372Y3LT4:8:1151:44071:8623,LH00166:186:2372Y3LT4:8:1155:8330:14844,LH00166:186:2372Y3LT4:8:1159:27446:10262,LH00166:186:2372Y3LT4:8:1160:32988:4951,LH00166:186:2372Y3LT4:8:1160:45455:18726,LH00166:186:2372Y3LT4:8:1163:10918:24653,LH00166:186:2372Y3LT4:8:1164:51571:4209,LH00166:186:2372Y3LT4:8:1166:14251:5148,LH00166:186:2372Y3LT4:8:1166:22366:23097,LH00166:186:2372Y3LT4:8:1173:5417:28212,LH00166:186:2372Y3LT4:8:1175:15724:13779,LH00166:186:2372Y3LT4:8:1175:33886:27105,LH00166:186:2372Y3LT4:8:1175:49079:28674,LH00166:186:2372Y3LT4:8:1179:21945:26572,LH00166:186:2372Y3LT4:8:1182:48472:14256,LH00166:186:2372Y3LT4:8:1184:19874:21444,LH00166:186:2372Y3LT4:8:1186:43068:23616,LH00166:186:2372Y3LT4:8:1188:21160:4895,LH00166:186:2372Y3LT4:8:1193:1607:8833,LH00166:186:2372Y3LT4:8:1194:14963:6241,LH00166:186:2372Y3LT4:8:1196:22625:15671,LH00166:186:2372Y3LT4:8:1198:30739:9716,LH00166:186:2372Y3LT4:8:1202:23401:18417,LH00166:186:2372Y3LT4:8:1203:21816:18698,LH00166:186:2372Y3LT4:8:1206:15093:27343,LH00166:186:2372Y3LT4:8:1207:9308:11719,LH00166:186:2372Y3LT4:8:1212:32066:14816,LH00166:186:2372Y3LT4:8:1212:44824:16063,LH00166:186:2372Y3LT4:8:1214:5328:27890,LH00166:186:2372Y3LT4:8:1216:25003:22425,LH00166:186:2372Y3LT4:8:1217:43570:4783,LH00166:186:2372Y3LT4:8:1227:22350:11271,LH00166:186:2372Y3LT4:8:1229:2400:3873,LH00166:186:2372Y3LT4:8:1231:50770:7418,LH00166:186:2372Y3LT4:8:1232:9228:3060,LH00166:186:2372Y3LT4:8:1233:43481:28618,LH00166:186:2372Y3LT4:8:1235:30529:6269,LH00166:186:2372Y3LT4:8:1236:40406:8104,LH00166:186:2372Y3LT4:8:1242:26160:6521,LH00166:186:2372Y3LT4:8:1245:49297:29053,LH00166:186:2372Y3LT4:8:1247:45689:5204,LH00166:186:2372Y3LT4:8:1249:27066:4643,LH00166:186:2372Y3LT4:8:1250:34509:1252,LH00166:186:2372Y3LT4:8:1251:31281:21500,LH00166:186:2372Y3LT4:8:1253:19235:19636,LH00166:186:2372Y3LT4:8:1253:23045:26713,LH00166:186:2372Y3LT4:8:1256:17908:15965,LH00166:186:2372Y3LT4:8:1256:22519:6381,LH00166:186:2372Y3LT4:8:1259:38610:5302,LH00166:186:2372Y3LT4:8:1259:9341:28898,LH00166:186:2372Y3LT4:8:1260:34622:13303,LH00166:186:2372Y3LT4:8:1262:16193:29081,LH00166:186:2372Y3LT4:8:1267:42979:4153,LH00166:186:2372Y3LT4:8:1270:13378:23420,LH00166:186:2372Y3LT4:8:1271:12747:15685,LH00166:186:2372Y3LT4:8:1272:35051:7151,LH00166:186:2372Y3LT4:8:1277:51603:25479,LH00166:186:2372Y3LT4:8:1290:47437:14956,LH00166:186:2372Y3LT4:8:1295:13515:10907,LH00166:186:2372Y3LT4:8:1295:28716:15180,LH00166:186:2372Y3LT4:8:1296:36200:13821,LH00166:186:2372Y3LT4:8:1297:30925:15783,LH00166:186:2372Y3LT4:8:1306:30561:22775,LH00166:186:2372Y3LT4:8:1307:25432:8959,LH00166:186:2372Y3LT4:8:1309:29242:2724,LH00166:186:2372Y3LT4:8:1314:11485:14760,LH00166:186:2372Y3LT4:8:1315:28158:16764,LH00166:186:2372Y3LT4:8:1315:39622:6717,LH00166:186:2372Y3LT4:8:1320:10926:29571,LH00166:186:2372Y3LT4:8:1320:25586:23041,LH00166:186:2372Y3LT4:8:1321:37874:7558,LH00166:186:2372Y3LT4:8:1324:48674:4573,LH00166:186:2372Y3LT4:8:1331:7626:29263,LH00166:186:2372Y3LT4:8:1334:11169:21920,LH00166:186:2372Y3LT4:8:1339:43877:4307,LH00166:186:2372Y3LT4:8:1349:33845:4475,LH00166:186:2372Y3LT4:8:1350:40471:26572,LH00166:186:2372Y3LT4:8:1356:11614:22074,LH00166:186:2372Y3LT4:8:1361:28773:1687,LH00166:186:2372Y3LT4:8:1363:20432:13163,LH00166:186:2372Y3LT4:8:1363:45883:18151,LH00166:186:2372Y3LT4:8:1363:47663:2850,LH00166:186:2372Y3LT4:8:1366:47914:2219,LH00166:186:2372Y3LT4:8:1369:35439:20043,LH00166:186:2372Y3LT4:8:1374:48666:16442,LH00166:186:2372Y3LT4:8:1378:8176:20883,LH00166:186:2372Y3LT4:8:1390:10579:8875,LH00166:186:2372Y3LT4:8:1391:19170:9912,LH00166:186:2372Y3LT4:8:1392:35860:11888,LH00166:186:2372Y3LT4:8:1404:14421:9365,LH00166:186:2372Y3LT4:8:1405:20157:2709,LH00166:186:2372Y3LT4:8:1405:50786:9211,LH00166:186:2372Y3LT4:8:1406:6857:15685,LH00166:186:2372Y3LT4:8:1410:21994:16876,LH00166:186:2372Y3LT4:8:1411:45730:16456,LH00166:186:2372Y3LT4:8:1414:51279:22032,LH00166:186:2372Y3LT4:8:1416:44977:24485,LH00166:186:2372Y3LT4:8:1417:47129:5008,LH00166:186:2372Y3LT4:8:1426:43303:23378,LH00166:186:2372Y3LT4:8:1427:23490:22411,LH00166:186:2372Y3LT4:8:1434:38602:28688,LH00166:186:2372Y3LT4:8:1435:10530:20841,LH00166:186:2372Y3LT4:8:1435:24243:16624,LH00166:186:2372Y3LT4:8:1437:13475:19104,LH00166:186:2372Y3LT4:8:1437:31265:13037,LH00166:186:2372Y3LT4:8:1437:31807:27679,LH00166:186:2372Y3LT4:8:1441:33085:10500,LH00166:186:2372Y3LT4:8:1441:43303:3620,LH00166:186:2372Y3LT4:8:1442:26322:1981,LH00166:186:2372Y3LT4:8:1442:27964:7095,LH00166:186:2372Y3LT4:8:1443:1235:7740,LH00166:186:2372Y3LT4:8:1443:27333:20827,LH00166:186:2372Y3LT4:8:1450:39371:7263,LH00166:186:2372Y3LT4:8:1450:5822:26250,LH00166:186:2372Y3LT4:8:1463:12933:12028,LH00166:186:2372Y3LT4:8:1467:18992:24653,LH00166:186:2372Y3LT4:8:1467:29008:23980,LH00166:186:2372Y3LT4:8:1469:29355:24891,LH00166:186:2372Y3LT4:8:1469:5126:21458,LH00166:186:2372Y3LT4:8:1471:18264:9491,LH00166:186:2372Y3LT4:8:1478:14664:12644,LH00166:186:2372Y3LT4:8:1479:23523:10444,LH00166:186:2372Y3LT4:8:1480:27899:21668,LH00166:186:2372Y3LT4:8:1482:22689:5358,LH00166:186:2372Y3LT4:8:1483:19664:19594,LH00166:186:2372Y3LT4:8:1483:38699:4363,LH00166:186:2372Y3LT4:8:1483:42162:15489,LH00166:186:2372Y3LT4:8:1484:10012:4979,LH00166:186:2372Y3LT4:8:1492:7456:26334,LH00166:186:2372Y3LT4:8:1493:22997:23209,LH00166:186:2372Y3LT4:8:1493:23345:5652,LH00166:186:2372Y3LT4:8:1494:28409:22159,LH00166:186:2372Y3LT4:8:1497:38400:4825,LH00166:186:2372Y3LT4:8:2102:18669:7810,LH00166:186:2372Y3LT4:8:2104:17916:1575,LH00166:186:2372Y3LT4:8:2104:18660:3760,LH00166:186:2372Y3LT4:8:2107:21605:2247,LH00166:186:2372Y3LT4:8:2107:30173:2738,LH00166:186:2372Y3LT4:8:2107:34218:8707,LH00166:186:2372Y3LT4:8:2115:43044:4321,LH00166:186:2372Y3LT4:8:2118:18531:6283,LH00166:186:2372Y3LT4:8:2118:2052:24737,LH00166:186:2372Y3LT4:8:2127:1510:9449,LH00166:186:2372Y3LT4:8:2128:38643:10795,LH00166:186:2372Y3LT4:8:2131:10999:2625,LH00166:186:2372Y3LT4:8:2131:30148:22845,LH00166:186:2372Y3LT4:8:2134:16630:11902,LH00166:186:2372Y3LT4:8:2140:48755:26909,LH00166:186:2372Y3LT4:8:2146:37664:12826,LH00166:186:2372Y3LT4:8:2147:9033:18838,LH00166:186:2372Y3LT4:8:2153:5409:17352,LH00166:186:2372Y3LT4:8:2154:4624:19048,LH00166:186:2372Y3LT4:8:2156:28991:5736,LH00166:186:2372Y3LT4:8:2160:8750:14900,LH00166:186:2372Y3LT4:8:2174:1372:1168,LH00166:186:2372Y3LT4:8:2186:3289:2275,LH00166:186:2372Y3LT4:8:2187:34355:2135,LH00166:186:2372Y3LT4:8:2188:39411:25353,LH00166:186:2372Y3LT4:8:2194:26047:24344,LH00166:186:2372Y3LT4:8:2203:20303:3802,LH00166:186:2372Y3LT4:8:2203:4843:25059,LH00166:186:2372Y3LT4:8:2207:16298:19903,LH00166:186:2372Y3LT4:8:2207:9559:28436,LH00166:186:2372Y3LT4:8:2214:39541:18824,LH00166:186:2372Y3LT4:8:2216:32810:16526,LH00166:186:2372Y3LT4:8:2217:1251:23209,LH00166:186:2372Y3LT4:8:2219:43966:29235,LH00166:186:2372Y3LT4:8:2223:46741:5988,LH00166:186:2372Y3LT4:8:2224:40374:13569,LH00166:186:2372Y3LT4:8:2225:19558:29249,LH00166:186:2372Y3LT4:8:2225:21120:1995,LH00166:186:2372Y3LT4:8:2225:34396:1701,LH00166:186:2372Y3LT4:8:2231:7496:10206,LH00166:186:2372Y3LT4:8:2235:28579:18025,LH00166:186:2372Y3LT4:8:2235:37146:27792,LH00166:186:2372Y3LT4:8:2239:35350:8286,LH00166:186:2372Y3LT4:8:2250:40123:27035,LH00166:186:2372Y3LT4:8:2251:41579:19384,LH00166:186:2372Y3LT4:8:2253:10983:18067,LH00166:186:2372Y3LT4:8:2262:51012:27539,LH00166:186:2372Y3LT4:8:2264:24890:29543,LH00166:186:2372Y3LT4:8:2264:51304:15124,LH00166:186:2372Y3LT4:8:2264:8241:9029,LH00166:186:2372Y3LT4:8:2265:28207:13009,LH00166:186:2372Y3LT4:8:2266:32187:4713,LH00166:186:2372Y3LT4:8:2266:9268:4699,LH00166:186:2372Y3LT4:8:2274:43408:8791,LH00166:186:2372Y3LT4:8:2282:51773:22775,LH00166:186:2372Y3LT4:8:2286:19227:4517,LH00166:186:2372Y3LT4:8:2287:49661:26516,LH00166:186:2372Y3LT4:8:2289:5870:28212,LH00166:186:2372Y3LT4:8:2296:27875:13695,LH00166:186:2372Y3LT4:8:2298:36531:8903,LH00166:186:2372Y3LT4:8:2304:10174:24625,LH00166:186:2372Y3LT4:8:2310:13758:13681,LH00166:186:2372Y3LT4:8:2320:34646:1462,LH00166:186:2372Y3LT4:8:2323:39581:26460,LH00166:186:2372Y3LT4:8:2324:9883:25998,LH00166:186:2372Y3LT4:8:2330:38052:25409,LH00166:186:2372Y3LT4:8:2338:9567:1799,LH00166:186:2372Y3LT4:8:2344:20570:21080,LH00166:186:2372Y3LT4:8:2344:37454:7922,LH00166:186:2372Y3LT4:8:2346:26508:26208,LH00166:186:2372Y3LT4:8:2347:25521:28198,LH00166:186:2372Y3LT4:8:2347:32850:1827,LH00166:186:2372Y3LT4:8:2349:3589:16021,LH00166:186:2372Y3LT4:8:2354:10223:20982,LH00166:186:2372Y3LT4:8:2357:26516:14984,LH00166:186:2372Y3LT4:8:2376:34404:3985,LH00166:186:2372Y3LT4:8:2376:44184:22775,LH00166:186:2372Y3LT4:8:2379:22681:22859,LH00166:186:2372Y3LT4:8:2381:26564:11033,LH00166:186:2372Y3LT4:8:2383:42316:25395,LH00166:186:2372Y3LT4:8:2384:23879:5652,LH00166:186:2372Y3LT4:8:2389:24655:22971,LH00166:186:2372Y3LT4:8:2394:13823:15587,LH00166:186:2372Y3LT4:8:2404:27907:5848,LH00166:186:2372Y3LT4:8:2407:19769:23896,LH00166:186:2372Y3LT4:8:2409:43764:2709,LH00166:186:2372Y3LT4:8:2410:18296:18487,LH00166:186:2372Y3LT4:8:2420:11841:2794,LH00166:186:2372Y3LT4:8:2426:26022:4825,LH00166:186:2372Y3LT4:8:2429:1186:13345,LH00166:186:2372Y3LT4:8:2429:28983:28814,LH00166:186:2372Y3LT4:8:2430:40487:18557,LH00166:186:2372Y3LT4:8:2430:40868:28296,LH00166:186:2372Y3LT4:8:2436:23167:18768,LH00166:186:2372Y3LT4:8:2448:22252:15951,LH00166:186:2372Y3LT4:8:2449:34129:7796,LH00166:186:2372Y3LT4:8:2451:22892:22859,LH00166:186:2372Y3LT4:8:2457:45778:17969,LH00166:186:2372Y3LT4:8:2474:15109:17198,LH00166:186:2372Y3LT4:8:2476:34258:11411,LH00166:186:2372Y3LT4:8:2481:33222:10262,LH00166:186:2372Y3LT4:8:2481:45997:23167,LH00166:186:2372Y3LT4:8:2484:30197:5302,LH00166:186:2372Y3LT4:8:2488:48869:7740,LH00166:186:2372Y3LT4:8:2490:39897:6521,LH00166:186:2372Y3LT4:8:2491:49540:22159 YES_LDAS GT 1.2867 chr15:90390873:+ IQGAP1^ENSG00000140575.13 . . . AG 1.8295 chr3:12312380:+ PPARG^ENSG00000132170.23 1 LH00166:186:2372Y3LT4:8:1427:15675:11537 ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr15--chr3]""]" False chr15:90390873-chr3:12312380 264.0 1.0 265 659_bdp STAR-Fusion
fp_audit 659_bld fusion AC061999--ERG AC061999--ERG AC061999--ERG FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bld altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_bld_T1_TRNA_1 tRNA altera_exact ssf 412.00 84.76 False cgp_rna_exp0034_lib_s08 200.00 128.09 cgp_rna_exp0034 H01 False 659_bld_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bld_T1_TRNA_1_B2372Y3LT4_1 BND chr11 chr21 AC061999 ERG 36510537 38423561 chr11:36510537-chr21:38423561 +,- Arriba 1 0 8 8 PASS AC061999--ERG AC061999--ERG confidence:medium;duplicates(5) medium translocation exon CDS/splice-site 12 6906 5.0 0.0 0.0 0.0 5 3 duplicates(5) FAIL False chr11:36510537 chr21:38423561 chr11:36510537-chr21:38423561 . . medium 12 6906 downstream downstream 0 confidence_below_min(medium<high) duplicates(5) GGGCGGCGCCCCCAGCCCCGCAGCCTGGCTTTCTTCCTGCTCGGGTGTCCCACCTGGGAATTCGTTGCACCGCACAGCCGAACCCGAGTGTGTCAATGGGTGTGTGTTGGAATGAGGATGGCGACGAGAAGATCCCTCCCGGAATAACTTAATTTG|GAACTCTCCTGATGAATGCAGTGTGGCCAAAGGCGGGAAGATGGTGGGCAGCCCAGACACCGTTGGGATGAACTACGGCAGCTACATGGAGGAGAAGCACATGCCACCCCCAAACATGACCACG AC061999.1 ERG ENSG00000280331 ENSG00000157554 . LH00166:186:2372Y3LT4:8:1140:20189:19917,LH00166:186:2372Y3LT4:8:1261:19105:8202,LH00166:186:2372Y3LT4:8:2117:13167:29333,LH00166:186:2372Y3LT4:8:2120:2667:19889,LH00166:186:2372Y3LT4:8:2155:22155:21556,LH00166:186:2372Y3LT4:8:2182:29962:24681,LH00166:186:2372Y3LT4:8:2314:45738:19833,LH00166:186:2372Y3LT4:8:2314:45754:19833,LH00166:186:2372Y3LT4:8:2393:6598:6941,LH00166:186:2372Y3LT4:8:2424:36046:12210,LH00166:186:2372Y3LT4:8:1422:45681:25311,LH00166:186:2372Y3LT4:8:2151:45908:21248,LH00166:186:2372Y3LT4:8:2242:7682:1504 . |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) exon CDS/splice-site 5 3 +/+ -/- . 8 ENST00000624454 ENST00000442448 translocation 0.29411764705882354 0.0004342162396873643 0.14727593164925545 659_bld Arriba
fp_audit 659_bld fusion AC061999--ERG AC061999--ERG AC061999--ERG FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bld altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_bld_T1_TRNA_1 tRNA altera_exact ssf 412.00 84.76 False cgp_rna_exp0034_lib_s08 200.00 128.09 cgp_rna_exp0034 H01 False 659_bld_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bld_T1_TRNA_1_B2372Y3LT4_1 BND chr11 chr21 AC061999 ERG 36510537 38423561 chr11:36510537-chr21:38423561 +,- STAR-Fusion 1 0 8 0.056 8 PASS AC061999--ERG AC061999--ERG "[""INTERCHROMOSOMAL[chr11--chr21]""]" ONLY_REF_SPLICE YES_LDAS 1.7056 False False False GT AG 8 1 . . . . 0.056 PASS . . . AC061999.1--ERG 8 LH00166:186:2372Y3LT4:8:1140:20189:19917,LH00166:186:2372Y3LT4:8:1261:19105:8202,LH00166:186:2372Y3LT4:8:1422:45681:25311,LH00166:186:2372Y3LT4:8:2117:13167:29333,LH00166:186:2372Y3LT4:8:2120:2667:19889,LH00166:186:2372Y3LT4:8:2151:45908:21248,LH00166:186:2372Y3LT4:8:2155:22155:21556,LH00166:186:2372Y3LT4:8:2242:7682:1504 YES_LDAS GT 1.7056 chr11:36510537:+ AC061999.1^ENSG00000280331.1 . . . AG 1.9899 chr21:38423561:- ERG^ENSG00000157554.19 0 . ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr11--chr21]""]" False chr11:36510537-chr21:38423561 8.0 0.0 8 659_bld STAR-Fusion
fp_audit 659_bld fusion AC117434--ROS1 AC117434--ROS1 AC117434--ROS1 FP FP Arriba cgp_rna_exp0034 659_bld altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_bld_T1_TRNA_1 tRNA altera_exact ssf 412.00 84.76 False cgp_rna_exp0034_lib_s08 200.00 128.09 cgp_rna_exp0034 H01 False 659_bld_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bld_T1_TRNA_1_B2372Y3LT4_1 BND chr3 chr6 AC117434 ROS1 176256419 117308830 chr3:176256419-chr6:117308830 +,+ Arriba 1 3 72 75 PASS AC117434--ROS1 AC117434--ROS1 confidence:medium;duplicates(26),mismatches(4) medium translocation intergenic CDS 27 197 26.0 4.0 0.0 0.0 20 52 duplicates(26),mismatches(4) FAIL False chr3:176256419 chr6:117308830 chr3:176256419-chr6:117308830 . . medium 27 197 downstream upstream 3 confidence_below_min(medium<high) duplicates(26),mismatches(4) TACTCATTTTAAATATTGACTTTTTTTCTTATTTGCACAGCACCATTGTCTAAGCTGGATAGCTGAGAAATACTGACTATAGAAAGATTTTTATGATTGACCAAATGGTAGGTTTTTCTATCAACTCTATCTAGCATTGTGTTCAGGGCTC|CCTCCTGTTTGCACATAGTTTAACACATCAAGGTTGGAATGAGCTGGATAAGGCTGATGACCAAGAGTTAAAATCTCCCAAATCAGAATTCCAAAAGACCTAAGAATAGTAGAGGGTTTGCTTTAATTATACTTATTACAAACACCAGGTTTACAGTAGTTTCTCCAACAACATTTTTCCTGGGGCTAGCAGGG AC117434.1(141882),LINC01208(159020) ROS1 . ENSG00000047936 . LH00166:186:2372Y3LT4:8:1122:19817:22271,LH00166:186:2372Y3LT4:8:1155:14858:7796,LH00166:186:2372Y3LT4:8:1156:9923:11832,LH00166:186:2372Y3LT4:8:1272:20626:29361,LH00166:186:2372Y3LT4:8:1312:20974:14718,LH00166:186:2372Y3LT4:8:1350:50697:8693,LH00166:186:2372Y3LT4:8:1451:24801:7334,LH00166:186:2372Y3LT4:8:1472:10862:16400,LH00166:186:2372Y3LT4:8:1494:11088:23546,LH00166:186:2372Y3LT4:8:2101:18491:22719,LH00166:186:2372Y3LT4:8:2105:10077:26699,LH00166:186:2372Y3LT4:8:2154:46353:16974,LH00166:186:2372Y3LT4:8:2154:46361:16960,LH00166:186:2372Y3LT4:8:2154:46369:16974,LH00166:186:2372Y3LT4:8:2173:19931:19608,LH00166:186:2372Y3LT4:8:2191:25650:17913,LH00166:186:2372Y3LT4:8:2191:31435:19917,LH00166:186:2372Y3LT4:8:2340:49718:26026,LH00166:186:2372Y3LT4:8:2340:49734:26026,LH00166:186:2372Y3LT4:8:2346:20796:27469,LH00166:186:2372Y3LT4:8:2355:8791:25087,LH00166:186:2372Y3LT4:8:2414:25529:5680,LH00166:186:2372Y3LT4:8:2417:42340:10108,LH00166:186:2372Y3LT4:8:2421:18118:22074,LH00166:186:2372Y3LT4:8:2462:20643:5652,LH00166:186:2372Y3LT4:8:2463:13151:20113,LH00166:186:2372Y3LT4:8:2471:7561:6563,LH00166:186:2372Y3LT4:8:1107:23895:11061,LH00166:186:2372Y3LT4:8:1107:23903:11075,LH00166:186:2372Y3LT4:8:1117:9915:1560,LH00166:186:2372Y3LT4:8:1130:18232:11733,LH00166:186:2372Y3LT4:8:1138:1534:13723,LH00166:186:2372Y3LT4:8:1173:26864:23238,LH00166:186:2372Y3LT4:8:1174:47299:16147,LH00166:186:2372Y3LT4:8:1203:37898:22593,LH00166:186:2372Y3LT4:8:1226:36992:16568,LH00166:186:2372Y3LT4:8:1226:37001:16582,LH00166:186:2372Y3LT4:8:1293:10837:27091,LH00166:186:2372Y3LT4:8:1310:42121:17913,LH00166:186:2372Y3LT4:8:1342:17398:26825,LH00166:186:2372Y3LT4:8:1345:7529:19959,LH00166:186:2372Y3LT4:8:1360:18555:21346,LH00166:186:2372Y3LT4:8:1363:51700:8356,LH00166:186:2372Y3LT4:8:1370:1372:3662,LH00166:186:2372Y3LT4:8:1374:6178:9295,LH00166:186:2372Y3LT4:8:1383:25723:9604,LH00166:186:2372Y3LT4:8:1384:47145:12238,LH00166:186:2372Y3LT4:8:1415:46603:29039,LH00166:186:2372Y3LT4:8:1415:46611:29053,LH00166:186:2372Y3LT4:8:1441:29024:9968,LH00166:186:2372Y3LT4:8:1441:39096:6255,LH00166:186:2372Y3LT4:8:1449:23070:9379,LH00166:186:2372Y3LT4:8:1467:38716:27876,LH00166:186:2372Y3LT4:8:1468:44500:25311,LH00166:186:2372Y3LT4:8:1487:47469:27960,LH00166:186:2372Y3LT4:8:2101:31321:14031,LH00166:186:2372Y3LT4:8:2104:29097:26657,LH00166:186:2372Y3LT4:8:2111:26710:5540,LH00166:186:2372Y3LT4:8:2113:12350:14998,LH00166:186:2372Y3LT4:8:2114:7820:12981,LH00166:186:2372Y3LT4:8:2119:9050:4013,LH00166:186:2372Y3LT4:8:2128:10732:24611,LH00166:186:2372Y3LT4:8:2138:25788:5792,LH00166:186:2372Y3LT4:8:2156:6016:28100,LH00166:186:2372Y3LT4:8:2157:39225:21724,LH00166:186:2372Y3LT4:8:2166:6703:14858,LH00166:186:2372Y3LT4:8:2166:6720:14858,LH00166:186:2372Y3LT4:8:2166:7294:3746,LH00166:186:2372Y3LT4:8:2168:6841:13975,LH00166:186:2372Y3LT4:8:2173:6024:13177,LH00166:186:2372Y3LT4:8:2176:46142:17703,LH00166:186:2372Y3LT4:8:2181:13726:29375,LH00166:186:2372Y3LT4:8:2181:13734:29389,LH00166:186:2372Y3LT4:8:2193:9446:21654,LH00166:186:2372Y3LT4:8:2198:19647:5134,LH00166:186:2372Y3LT4:8:2213:46409:28450,LH00166:186:2372Y3LT4:8:2280:8030:1182,LH00166:186:2372Y3LT4:8:2280:8038:1168,LH00166:186:2372Y3LT4:8:2297:9899:6157,LH00166:186:2372Y3LT4:8:2304:11930:1827,LH00166:186:2372Y3LT4:8:2304:11938:1841,LH00166:186:2372Y3LT4:8:2322:17738:28002,LH00166:186:2372Y3LT4:8:2337:45964:3382,LH00166:186:2372Y3LT4:8:2342:25577:3242,LH00166:186:2372Y3LT4:8:2342:25594:3242,LH00166:186:2372Y3LT4:8:2342:25602:3256,LH00166:186:2372Y3LT4:8:2347:19494:11846,LH00166:186:2372Y3LT4:8:2351:45325:26376,LH00166:186:2372Y3LT4:8:2355:29234:5316,LH00166:186:2372Y3LT4:8:2355:8880:24877,LH00166:186:2372Y3LT4:8:2356:9033:21136,LH00166:186:2372Y3LT4:8:2360:20367:25802,LH00166:186:2372Y3LT4:8:2388:3848:4755,LH00166:186:2372Y3LT4:8:2416:34048:15839,LH00166:186:2372Y3LT4:8:2428:13726:14073,LH00166:186:2372Y3LT4:8:2446:24032:13681,LH00166:186:2372Y3LT4:8:2452:7488:28072,LH00166:186:2372Y3LT4:8:2453:30755:18011,LH00166:186:2372Y3LT4:8:2477:31613:1112,LH00166:186:2372Y3LT4:8:2497:10570:10346,LH00166:186:2372Y3LT4:8:1365:28215:12070,LH00166:186:2372Y3LT4:8:1365:28231:12070,LH00166:186:2372Y3LT4:8:2136:4721:14003,LH00166:186:2372Y3LT4:8:2190:48755:26264,LH00166:186:2372Y3LT4:8:2190:48763:26250 . . intergenic CDS 20 52 ./+ -/+ . 75 . . translocation 0.44329896907216493 0.21357285429141717 0.32843591168179104 659_bld Arriba
fp_audit 659_bld fusion CIR1--ROS1 ROS1--CIR1 CIR1--ROS1 FP FP Arriba cgp_rna_exp0034 659_bld altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_bld_T1_TRNA_1 tRNA altera_exact ssf 412.00 84.76 False cgp_rna_exp0034_lib_s08 200.00 128.09 cgp_rna_exp0034 H01 False 659_bld_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bld_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr2 ROS1 CIR1 117311097 174381777 chr6:117311097-chr2:174381777 +,- Arriba 1 0 150 150 PASS ROS1--CIR1 CIR1--ROS1 confidence:high;duplicates(77),mismatches(5) high translocation/3'-3' CDS CDS/splice-site 1015 602 77.0 5.0 0.0 0.0 104 46 duplicates(77),mismatches(5) PASS False chr6:117311097 chr2:174381777 chr6:117311097-chr2:174381777 . . high 1015 602 downstream downstream 0 duplicates(77),mismatches(5) TGCCAATATCCGTAATAACCCTGTATCCAGAAGAGAATTGTACCTGTGAATGAAATGCATCCGTTCCAAGTAGACACAGCCTTTTGAAATATCTACACACAGGTCTACAAGGTCAACCAAG|ATTGCTTATGGGAGATGAACGTGTAAAGAATGGCCTTAATTTCATGTATGAAGCCCCACCAGGAGCTAAAAAAG___AAAACAAAGAG___AAAGAAGAAACAGAAGGAGAGACCGAATACAAATTTGAATGGCAG ROS1 CIR1 ENSG00000047936 ENSG00000138433 . LH00166:186:2372Y3LT4:8:1101:17131:8511,LH00166:186:2372Y3LT4:8:1106:19235:5316,LH00166:186:2372Y3LT4:8:1127:48949:10430,LH00166:186:2372Y3LT4:8:1128:10085:5526,LH00166:186:2372Y3LT4:8:1132:40900:26082,LH00166:186:2372Y3LT4:8:1149:6275:5876,LH00166:186:2372Y3LT4:8:1157:46191:24344,LH00166:186:2372Y3LT4:8:1159:37559:15503,LH00166:186:2372Y3LT4:8:1182:35488:10711,LH00166:186:2372Y3LT4:8:1183:45932:20925,LH00166:186:2372Y3LT4:8:1201:19995:21654,LH00166:186:2372Y3LT4:8:1201:32972:24344,LH00166:186:2372Y3LT4:8:1202:44015:1883,LH00166:186:2372Y3LT4:8:1213:42235:7123,LH00166:186:2372Y3LT4:8:1218:1073:22761,LH00166:186:2372Y3LT4:8:1237:35577:26166,LH00166:186:2372Y3LT4:8:1237:35585:26180,LH00166:186:2372Y3LT4:8:1241:36645:8062,LH00166:186:2372Y3LT4:8:1248:30876:27441,LH00166:186:2372Y3LT4:8:1303:17042:3228,LH00166:186:2372Y3LT4:8:1303:17051:3242,LH00166:186:2372Y3LT4:8:1310:16250:15615,LH00166:186:2372Y3LT4:8:1313:39824:16175,LH00166:186:2372Y3LT4:8:1320:12027:26348,LH00166:186:2372Y3LT4:8:1338:41110:17815,LH00166:186:2372Y3LT4:8:1362:18717:15573,LH00166:186:2372Y3LT4:8:1362:18725:15587,LH00166:186:2372Y3LT4:8:1366:19526:21570,LH00166:186:2372Y3LT4:8:1367:19639:3158,LH00166:186:2372Y3LT4:8:1376:25480:28828,LH00166:186:2372Y3LT4:8:1376:41207:15937,LH00166:186:2372Y3LT4:8:1447:42130:4811,LH00166:186:2372Y3LT4:8:1447:48084:3662,LH00166:186:2372Y3LT4:8:1462:11978:23490,LH00166:186:2372Y3LT4:8:1477:42817:17240,LH00166:186:2372Y3LT4:8:1482:45317:6157,LH00166:186:2372Y3LT4:8:1491:21718:7488,LH00166:186:2372Y3LT4:8:2134:16816:13513,LH00166:186:2372Y3LT4:8:2139:30917:19188,LH00166:186:2372Y3LT4:8:2178:10862:15194,LH00166:186:2372Y3LT4:8:2179:48682:16554,LH00166:186:2372Y3LT4:8:2225:21589:27581,LH00166:186:2372Y3LT4:8:2244:22010:27413,LH00166:186:2372Y3LT4:8:2254:43197:14732,LH00166:186:2372Y3LT4:8:2262:14308:6535,LH00166:186:2372Y3LT4:8:2306:44993:6241,LH00166:186:2372Y3LT4:8:2308:42817:11832,LH00166:186:2372Y3LT4:8:2318:27891:23223,LH00166:186:2372Y3LT4:8:2327:23603:14704,LH00166:186:2372Y3LT4:8:2337:44346:2485,LH00166:186:2372Y3LT4:8:2346:22964:13569,LH00166:186:2372Y3LT4:8:2360:37154:20155,LH00166:186:2372Y3LT4:8:2366:49071:14816,LH00166:186:2372Y3LT4:8:2395:35852:4811,LH00166:186:2372Y3LT4:8:2404:47429:25059,LH00166:186:2372Y3LT4:8:2406:20926:28114,LH00166:186:2372Y3LT4:8:2418:27163:20869,LH00166:186:2372Y3LT4:8:2418:27179:20869,LH00166:186:2372Y3LT4:8:2418:27195:20869,LH00166:186:2372Y3LT4:8:2418:27212:20869,LH00166:186:2372Y3LT4:8:2455:19065:14858,LH00166:186:2372Y3LT4:8:2485:8629:9393,LH00166:186:2372Y3LT4:8:1103:14300:16357,LH00166:186:2372Y3LT4:8:1103:15958:11271,LH00166:186:2372Y3LT4:8:1104:11266:26432,LH00166:186:2372Y3LT4:8:1104:11549:7081,LH00166:186:2372Y3LT4:8:1104:49265:20561,LH00166:186:2372Y3LT4:8:1120:32753:23742,LH00166:186:2372Y3LT4:8:1120:32761:23728,LH00166:186:2372Y3LT4:8:1121:18337:14045,LH00166:186:2372Y3LT4:8:1124:25731:26965,LH00166:186:2372Y3LT4:8:1128:26411:20155,LH00166:186:2372Y3LT4:8:1133:3783:21626,LH00166:186:2372Y3LT4:8:1133:3791:21640,LH00166:186:2372Y3LT4:8:1141:45107:28744,LH00166:186:2372Y3LT4:8:1146:45204:10332,LH00166:186:2372Y3LT4:8:1154:10117:20015,LH00166:186:2372Y3LT4:8:1156:12391:22635,LH00166:186:2372Y3LT4:8:1157:22746:5988,LH00166:186:2372Y3LT4:8:1164:33271:6030,LH00166:186:2372Y3LT4:8:1167:8669:9491,LH00166:186:2372Y3LT4:8:1176:20311:21024,LH00166:186:2372Y3LT4:8:1179:36167:24975,LH00166:186:2372Y3LT4:8:1183:41474:19146,LH00166:186:2372Y3LT4:8:1191:51627:20645,LH00166:186:2372Y3LT4:8:1192:21063:22243,LH00166:186:2372Y3LT4:8:1193:44815:22383,LH00166:186:2372Y3LT4:8:1196:20675:1308,LH00166:186:2372Y3LT4:8:1197:8410:10612,LH00166:186:2372Y3LT4:8:1198:26241:25045,LH00166:186:2372Y3LT4:8:1198:5927:6283,LH00166:186:2372Y3LT4:8:1201:39339:8889,LH00166:186:2372Y3LT4:8:1212:45786:5624,LH00166:186:2372Y3LT4:8:1214:44880:16554,LH00166:186:2372Y3LT4:8:1215:21654:23742,LH00166:186:2372Y3LT4:8:1220:37737:10318,LH00166:186:2372Y3LT4:8:1223:23118:8427,LH00166:186:2372Y3LT4:8:1223:48966:20911,LH00166:186:2372Y3LT4:8:1224:2222:24190,LH00166:186:2372Y3LT4:8:1228:10287:23280,LH00166:186:2372Y3LT4:8:1235:42922:4951,LH00166:186:2372Y3LT4:8:1249:27543:17801,LH00166:186:2372Y3LT4:8:1252:27301:20996,LH00166:186:2372Y3LT4:8:1252:40908:8609,LH00166:186:2372Y3LT4:8:1256:15942:3088,LH00166:186:2372Y3LT4:8:1262:42623:22985,LH00166:186:2372Y3LT4:8:1264:47542:9169,LH00166:186:2372Y3LT4:8:1266:2448:11691,LH00166:186:2372Y3LT4:8:1273:3726:14270,LH00166:186:2372Y3LT4:8:1281:28870:20071,LH00166:186:2372Y3LT4:8:1301:27260:17843,LH00166:186:2372Y3LT4:8:1301:31960:10598,LH00166:186:2372Y3LT4:8:1309:18118:15657,LH00166:186:2372Y3LT4:8:1315:1049:22635,LH00166:186:2372Y3LT4:8:1318:21678:20085,LH00166:186:2372Y3LT4:8:1320:47542:8721,LH00166:186:2372Y3LT4:8:1324:4802:2794,LH00166:186:2372Y3LT4:8:1337:30116:6787,LH00166:186:2372Y3LT4:8:1340:45705:4139,LH00166:186:2372Y3LT4:8:1342:45835:2205,LH00166:186:2372Y3LT4:8:1352:38263:6745,LH00166:186:2372Y3LT4:8:1357:40657:8034,LH00166:186:2372Y3LT4:8:1358:10352:24064,LH00166:186:2372Y3LT4:8:1363:42744:8679,LH00166:186:2372Y3LT4:8:1366:5037:10318,LH00166:186:2372Y3LT4:8:1372:29153:27679,LH00166:186:2372Y3LT4:8:1377:46814:15783,LH00166:186:2372Y3LT4:8:1378:51821:19748,LH00166:186:2372Y3LT4:8:1385:41927:18782,LH00166:186:2372Y3LT4:8:1386:13410:12518,LH00166:186:2372Y3LT4:8:1390:38958:17955,LH00166:186:2372Y3LT4:8:1391:27042:1883,LH00166:186:2372Y3LT4:8:1393:34444:14620,LH00166:186:2372Y3LT4:8:1393:36895:1350,LH00166:186:2372Y3LT4:8:1397:44370:8777,LH00166:186:2372Y3LT4:8:1406:35326:25395,LH00166:186:2372Y3LT4:8:1406:35342:25395,LH00166:186:2372Y3LT4:8:1411:2489:20589,LH00166:186:2372Y3LT4:8:1411:27301:8132,LH00166:186:2372Y3LT4:8:1413:34784:5960,LH00166:186:2372Y3LT4:8:1415:41733:24891,LH00166:186:2372Y3LT4:8:1417:35585:27301,LH00166:186:2372Y3LT4:8:1417:43489:9604,LH00166:186:2372Y3LT4:8:1419:10773:7810,LH00166:186:2372Y3LT4:8:1423:37324:19188,LH00166:186:2372Y3LT4:8:1426:43837:5694,LH00166:186:2372Y3LT4:8:1443:5498:6857,LH00166:186:2372Y3LT4:8:1452:23879:21234,LH00166:186:2372Y3LT4:8:1463:49281:16133,LH00166:186:2372Y3LT4:8:1464:49402:1911,LH00166:186:2372Y3LT4:8:1474:40398:28016,LH00166:186:2372Y3LT4:8:1486:16945:29655,LH00166:186:2372Y3LT4:8:1497:38732:6353,LH00166:186:2372Y3LT4:8:2106:50317:12322,LH00166:186:2372Y3LT4:8:2112:10045:25493,LH00166:186:2372Y3LT4:8:2122:23563:22313,LH00166:186:2372Y3LT4:8:2129:18013:3256,LH00166:186:2372Y3LT4:8:2129:5288:8903,LH00166:186:2372Y3LT4:8:2133:6000:10668,LH00166:186:2372Y3LT4:8:2139:49330:11874,LH00166:186:2372Y3LT4:8:2140:31969:20841,LH00166:186:2372Y3LT4:8:2145:15352:25437,LH00166:186:2372Y3LT4:8:2145:16953:19440,LH00166:186:2372Y3LT4:8:2155:15246:15475,LH00166:186:2372Y3LT4:8:2158:6032:19244,LH00166:186:2372Y3LT4:8:2161:39872:16343,LH00166:186:2372Y3LT4:8:2162:18887:10514,LH00166:186:2372Y3LT4:8:2162:35771:21094,LH00166:186:2372Y3LT4:8:2172:36280:17016,LH00166:186:2372Y3LT4:8:2173:14721:21234,LH00166:186:2372Y3LT4:8:2173:38101:10781,LH00166:186:2372Y3LT4:8:2175:42712:16273,LH00166:186:2372Y3LT4:8:2176:17051:11986,LH00166:186:2372Y3LT4:8:2176:36402:10444,LH00166:186:2372Y3LT4:8:2186:10886:20449,LH00166:186:2372Y3LT4:8:2189:49524:24036,LH00166:186:2372Y3LT4:8:2191:43505:1673,LH00166:186:2372Y3LT4:8:2201:26362:28590,LH00166:186:2372Y3LT4:8:2202:25149:8777,LH00166:186:2372Y3LT4:8:2213:24663:5134,LH00166:186:2372Y3LT4:8:2219:28846:19804,LH00166:186:2372Y3LT4:8:2220:29542:10444,LH00166:186:2372Y3LT4:8:2226:40552:2331,LH00166:186:2372Y3LT4:8:2226:40560:2317,LH00166:186:2372Y3LT4:8:2233:40795:8469,LH00166:186:2372Y3LT4:8:2234:23879:9379,LH00166:186:2372Y3LT4:8:2235:14737:6297,LH00166:186:2372Y3LT4:8:2242:34590:22831,LH00166:186:2372Y3LT4:8:2249:16128:11649,LH00166:186:2372Y3LT4:8:2254:29663:29263,LH00166:186:2372Y3LT4:8:2255:1760:19104,LH00166:186:2372Y3LT4:8:2255:1769:19090,LH00166:186:2372Y3LT4:8:2275:49572:9604,LH00166:186:2372Y3LT4:8:2287:8952:2499,LH00166:186:2372Y3LT4:8:2289:11994:15166,LH00166:186:2372Y3LT4:8:2292:26670:24975,LH00166:186:2372Y3LT4:8:2298:1332:14242,LH00166:186:2372Y3LT4:8:2298:7019:18684,LH00166:186:2372Y3LT4:8:2301:13127:21052,LH00166:186:2372Y3LT4:8:2314:28644:26432,LH00166:186:2372Y3LT4:8:2316:23749:2738,LH00166:186:2372Y3LT4:8:2320:6857:12995,LH00166:186:2372Y3LT4:8:2322:36604:21192,LH00166:186:2372Y3LT4:8:2355:35439:10290,LH00166:186:2372Y3LT4:8:2373:33902:23406,LH00166:186:2372Y3LT4:8:2375:18393:11817,LH00166:186:2372Y3LT4:8:2375:29606:23644,LH00166:186:2372Y3LT4:8:2385:21613:12322,LH00166:186:2372Y3LT4:8:2392:33182:3971,LH00166:186:2372Y3LT4:8:2412:4600:13009,LH00166:186:2372Y3LT4:8:2413:4325:22565,LH00166:186:2372Y3LT4:8:2416:14324:14634,LH00166:186:2372Y3LT4:8:2419:7537:26783,LH00166:186:2372Y3LT4:8:2420:38384:21220,LH00166:186:2372Y3LT4:8:2442:3103:5680,LH00166:186:2372Y3LT4:8:2448:34169:22103,LH00166:186:2372Y3LT4:8:2450:24623:15461,LH00166:186:2372Y3LT4:8:2457:17342:19412,LH00166:186:2372Y3LT4:8:2460:48302:29291,LH00166:186:2372Y3LT4:8:2462:12973:10725,LH00166:186:2372Y3LT4:8:2462:2432:13233,LH00166:186:2372Y3LT4:8:2463:11185:6927,LH00166:186:2372Y3LT4:8:2469:31475:18698,LH00166:186:2372Y3LT4:8:2472:10174:29221,LH00166:186:2372Y3LT4:8:2472:22131:25437,LH00166:186:2372Y3LT4:8:2474:47518:4391,LH00166:186:2372Y3LT4:8:2474:9438:22985,LH00166:186:2372Y3LT4:8:2479:5595:22915,LH00166:186:2372Y3LT4:8:2479:7593:7488,LH00166:186:2372Y3LT4:8:2480:39371:27862,LH00166:186:2372Y3LT4:8:2484:33279:6941,LH00166:186:2372Y3LT4:8:2488:21832:20631 . . CDS CDS/splice-site 104 46 -/+ -/- . 150 . ENST00000342016 translocation/3'-3' 0.09294012511170688 0.07098765432098765 0.08196388971634727 659_bld Arriba
fp_audit 659_bld fusion CIR1--ROS1 ROS1--CIR1 CIR1--ROS1 FP FP Arriba cgp_rna_exp0034 659_bld altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_bld_T1_TRNA_1 tRNA altera_exact ssf 412.00 84.76 False cgp_rna_exp0034_lib_s08 200.00 128.09 cgp_rna_exp0034 H01 False 659_bld_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bld_T1_TRNA_1_B2372Y3LT4_1 BND chr2 chr6 CIR1 ROS1 174378923 117310967 chr2:174378923-chr6:117310967 -,+ Arriba 1 0 2 2 PASS out-of-frame CIR1--ROS1 CIR1--ROS1 confidence:low;duplicates(1) low translocation/5'-5' CDS/splice-site intron 632 776 1.0 0.0 0.0 0.0 0 2 False duplicates(1) FAIL False chr2:174378923 chr6:117310967 chr2:174378923-chr6:117310967 . . low 632 776 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(2.0<8.0) duplicates(1) CGAGAATGTCCTTTGTTTGGTCTTTCTGGAATCAATGCAAGTTCGGTTCCCACTGATGGCTCAG|GTGATTATTGTGCCAATATCCGTAATAACCCTGTATCCAGAAGAGAATTGTACCTGTGAATGAAATGCATCCGTTCCAAGTAGACACAGCCTTTTGAAATATCTACACACAGGTCTACAAGGTCAACCAAGcgGAG CIR1 ROS1 ENSG00000138433 ENSG00000047936 RECPLFGLSGINASSVPTDGS|gdycanirnnpvsrrelyl* LH00166:186:2372Y3LT4:8:1118:2545:4209,LH00166:186:2372Y3LT4:8:1471:45900:10136,LH00166:186:2372Y3LT4:8:2330:29631:5722 out-of-frame N-terminal_domain_of_CBF1_interacting_co-repressor_CIR(100%)| CDS/splice-site intron 0 2 -/- -/+ . 2 ENST00000342016 . translocation/5'-5' 0.0 0.002570694087403599 0.0012853470437017994 659_bld Arriba
fp_audit 659_bld fusion GLG1--ROS1 GLG1--ROS1 GLG1--ROS1 FP FP Arriba cgp_rna_exp0034 659_bld altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_bld_T1_TRNA_1 tRNA altera_exact ssf 412.00 84.76 False cgp_rna_exp0034_lib_s08 200.00 128.09 cgp_rna_exp0034 H01 False 659_bld_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bld_T1_TRNA_1_B2372Y3LT4_1 BND chr16 chr6 GLG1 ROS1 74606657 117310967 chr16:74606657-chr6:117310967 -,+ Arriba 1 2 274 276 PASS out-of-frame GLG1--ROS1 GLG1--ROS1 confidence:high;duplicates(118),mismatches(3) high translocation/5'-5' CDS/splice-site intron 1979 776 118.0 3.0 0.0 0.0 108 166 False duplicates(118),mismatches(3) PASS False chr16:74606657 chr6:117310967 chr16:74606657-chr6:117310967 . . high 1979 776 upstream upstream 2 duplicates(118),mismatches(3) GCCTCCGGCCCGGCGGGGAGGAGCGGGGGCTGGTGGGGGCTGGAAGCTGGCGGAGGAAGAGTCCTGCAGGGAGGACGTGACCCGCGTGTGCCCTAAGCACACCTGGAGCAACAACCTGGCGGTGCTCGAGTGCCTGCAGGATGTGAGGGAG|GTGATTATTGTGCCAATATCCGTAATAACCCTGTATCCAGAAGAGAATTGTACCTGTGAATGAAATGCATCCGTTCCAAGTAGACACAGCCTTTTGAAATATCTACACACAGGTCTACAAGGTCAACCAAG GLG1 ROS1 ENSG00000090863 ENSG00000047936 PPARRGGAGAGGGWKLAEEESCREDVTRVCPKHTWSNNLAVLECLQDVRE|viivpisvitlypeenctce* 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52:6703,LH00166:186:2372Y3LT4:8:2342:5983:19580,LH00166:186:2372Y3LT4:8:2349:46255:1953,LH00166:186:2372Y3LT4:8:2349:46272:1953,LH00166:186:2372Y3LT4:8:2357:27592:22285,LH00166:186:2372Y3LT4:8:2361:13175:19370,LH00166:186:2372Y3LT4:8:2361:1914:19650,LH00166:186:2372Y3LT4:8:2380:3233:23616,LH00166:186:2372Y3LT4:8:2380:4155:10556,LH00166:186:2372Y3LT4:8:2393:32478:15755,LH00166:186:2372Y3LT4:8:2395:26888:12995,LH00166:186:2372Y3LT4:8:2406:32284:13233,LH00166:186:2372Y3LT4:8:2407:26297:14634,LH00166:186:2372Y3LT4:8:2413:2060:13681,LH00166:186:2372Y3LT4:8:2417:30059:2990,LH00166:186:2372Y3LT4:8:2428:31613:5652,LH00166:186:2372Y3LT4:8:2429:39662:11747,LH00166:186:2372Y3LT4:8:2461:35124:4335,LH00166:186:2372Y3LT4:8:2470:17819:14354,LH00166:186:2372Y3LT4:8:2473:34824:14970,LH00166:186:2372Y3LT4:8:2474:2691:8721,LH00166:186:2372Y3LT4:8:2475:51166:9505,LH00166:186:2372Y3LT4:8:2479:7318:18978,LH00166:186:2372Y3LT4:8:2492:51376:14186,LH00166:186:2372Y3LT4:8:1445:4058:15293,LH00166:186:2372Y3LT4:8:2187:29097:9393,LH00166:186:2372Y3LT4:8:2237:15222:19636 out-of-frame Cysteine_rich_repeat(0%)| CDS/splice-site intron 108 166 -/- -/+ . 276 ENST00000205061 . translocation/5'-5' 0.05220306513409962 0.17709437963944857 0.1146487223867741 659_bld Arriba
fp_audit 659_bld fusion LINC02444--NOTCH2 NOTCH2--LINC02444 LINC02444--NOTCH2 FP FP Arriba cgp_rna_exp0034 659_bld altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_bld_T1_TRNA_1 tRNA altera_exact ssf 412.00 84.76 False cgp_rna_exp0034_lib_s08 200.00 128.09 cgp_rna_exp0034 H01 False 659_bld_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bld_T1_TRNA_1_B2372Y3LT4_1 BND chr1 chr12 NOTCH2 LINC02444 119935472 73500519 chr1:119935472-chr12:73500519 -,+ Arriba 1 3 41 44 PASS out-of-frame NOTCH2--LINC02444 LINC02444--NOTCH2 confidence:medium;duplicates(25) medium translocation CDS/splice-site intergenic 7542 21 25.0 0.0 0.0 0.0 29 12 False duplicates(25) FAIL False chr1:119935472 chr12:73500519 chr1:119935472-chr12:73500519 . . medium 7542 21 upstream upstream 3 confidence_below_min(medium<high) duplicates(25) ATACTGGGAGCTACTGTGAGGAGCAACTCGATGAGTGTGCGTCCAACCCCTGCCAGCACGGGGCAACATGCAGTGACTTCATTGGTGGATACAGATGCGAG___TGTGTCCCAGGCTATCAGGGTGTCAACTGTGAGTATGAAGTGGATGAGTGCCAGAATCAGCCCTGCCAGAATGGAGGCACCTGTATTGACCTTGTGAACCATTTCAAGTGCTCTTGCCCACCAGGCACTCGGG|GCTTTGGTATCAAGATGATGCTGGCCTCATAAAATAAATTAGGACGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAAGGGTACCAGCTCCTCCTTGTACCTCTGGTAGAATTCAGCTGTGAATCCGTCTGGTCCTGGAC NOTCH2 LINC02444(292202),AC087879.1(148147) ENSG00000134250 . TGSYCEEQLDECASNPCQHGATCSDFIGGYRCECVPGYQGVNCEYEVDECQNQPCQNGGTCIDLVNHFKCSCPPGTR|gfgikmmlas* LH00166:186:2372Y3LT4:8:1115:17309:7922,LH00166:186:2372Y3LT4:8:1132:20036:17436,LH00166:186:2372Y3LT4:8:1134:38619:3774,LH00166:186:2372Y3LT4:8:1149:15384:3158,LH00166:186:2372Y3LT4:8:1150:27090:22845,LH00166:186:2372Y3LT4:8:1150:27098:22831,LH00166:186:2372Y3LT4:8:1150:27106:22845,LH00166:186:2372Y3LT4:8:1172:37243:26923,LH00166:186:2372Y3LT4:8:1179:20125:16414,LH00166:186:2372Y3LT4:8:1193:52113:10584,LH00166:186:2372Y3LT4:8:1232:31087:25564,LH00166:186:2372Y3LT4:8:1250:28749:27007,LH00166:186:2372Y3LT4:8:1255:44759:14494,LH00166:186:2372Y3LT4:8:1263:20278:24387,LH00166:186:2372Y3LT4:8:1267:32535:6941,LH00166:186:2372Y3LT4:8:1270:40390:18698,LH00166:186:2372Y3LT4:8:1277:17067:5008,LH00166:186:2372Y3LT4:8:1285:45131:20715,LH00166:186:2372Y3LT4:8:1285:4964:16554,LH00166:186:2372Y3LT4:8:1292:31046:21850,LH00166:186:2372Y3LT4:8:1325:32778:25353,LH00166:186:2372Y3LT4:8:1370:23086:3746,LH00166:186:2372Y3LT4:8:1406:42817:25900,LH00166:186:2372Y3LT4:8:1406:7213:29249,LH00166:186:2372Y3LT4:8:1415:45107:19973,LH00166:186:2372Y3LT4:8:1421:3637:6549,LH00166:186:2372Y3LT4:8:1428:3476:29529,LH00166:186:2372Y3LT4:8:1434:44654:10500,LH00166:186:2372Y3LT4:8:1443:18345:27651,LH00166:186:2372Y3LT4:8:1443:18353:27665,LH00166:186:2372Y3LT4:8:1447:7521:15545,LH00166:186:2372Y3LT4:8:1451:11145:19608,LH00166:186:2372Y3LT4:8:1451:11153:19622,LH00166:186:2372Y3LT4:8:1491:24501:15166,LH00166:186:2372Y3LT4:8:1491:24510:15180,LH00166:186:2372Y3LT4:8:1494:38368:29431,LH00166:186:2372Y3LT4:8:2165:6234:26208,LH00166:186:2372Y3LT4:8:2207:40285:10164,LH00166:186:2372Y3LT4:8:2253:27786:18445,LH00166:186:2372Y3LT4:8:2267:32980:15222,LH00166:186:2372Y3LT4:8:2293:14543:25465,LH00166:186:2372Y3LT4:8:2331:27365:18529,LH00166:186:2372Y3LT4:8:2440:42906:21570,LH00166:186:2372Y3LT4:8:2455:45633:5498,LH00166:186:2372Y3LT4:8:2471:33651:1757,LH00166:186:2372Y3LT4:8:2485:23514:11916,LH00166:186:2372Y3LT4:8:1107:32357:19020,LH00166:186:2372Y3LT4:8:1107:32373:19020,LH00166:186:2372Y3LT4:8:1107:32389:19020,LH00166:186:2372Y3LT4:8:1166:27843:26839,LH00166:186:2372Y3LT4:8:1172:19219:29501,LH00166:186:2372Y3LT4:8:1283:26629:11313,LH00166:186:2372Y3LT4:8:1298:47056:6759,LH00166:186:2372Y3LT4:8:1352:36887:19748,LH00166:186:2372Y3LT4:8:1352:36895:19734,LH00166:186:2372Y3LT4:8:1352:36903:19748,LH00166:186:2372Y3LT4:8:1366:14793:6086,LH00166:186:2372Y3LT4:8:1394:22228:7137,LH00166:186:2372Y3LT4:8:2134:17819:25648,LH00166:186:2372Y3LT4:8:2146:44670:10024,LH00166:186:2372Y3LT4:8:2152:2246:19692,LH00166:186:2372Y3LT4:8:2190:45115:2219,LH00166:186:2372Y3LT4:8:2256:27276:23980,LH00166:186:2372Y3LT4:8:2387:49945:15433,LH00166:186:2372Y3LT4:8:2246:35771:2317,LH00166:186:2372Y3LT4:8:2339:13175:17773,LH00166:186:2372Y3LT4:8:2353:12294:15489,LH00166:186:2372Y3LT4:8:2353:12302:15503,LH00166:186:2372Y3LT4:8:2434:21775:18235 out-of-frame Calcium-binding_EGF_domain(100%),EGF-like_domain(90%),Human_growth_factor-like_EGF(100%)| CDS/splice-site intergenic 29 12 -/- ./+ . 44 ENST00000256646 . translocation 0.004027731924727633 0.391304347826087 0.1976660398754073 659_bld Arriba
fp_audit 659_bld fusion LY6H--NOTCH2 NOTCH2--LY6H LY6H--NOTCH2 FP FP Arriba cgp_rna_exp0034 659_bld altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_bld_T1_TRNA_1 tRNA altera_exact ssf 412.00 84.76 False cgp_rna_exp0034_lib_s08 200.00 128.09 cgp_rna_exp0034 H01 False 659_bld_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bld_T1_TRNA_1_B2372Y3LT4_1 BND chr1 chr8 NOTCH2 LY6H 119935472 143176515 chr1:119935472-chr8:143176515 -,+ Arriba 1 0 3 3 PASS out-of-frame NOTCH2--LY6H LY6H--NOTCH2 confidence:medium;duplicates(2) medium translocation CDS/splice-site intergenic 7542 3 2.0 0.0 0.0 0.0 1 2 False duplicates(2) FAIL False chr1:119935472 chr8:143176515 chr1:119935472-chr8:143176515 . . medium 7542 3 upstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(2) ATGcgAGTGTGTCCCAGGCTATCAGGGTGTCAACTGTGAGTATGAAGTGGATGAGTGCCAGAATCAGCCCTGCCAGAATGGAGGCACCTGTATTGACCTTGTGAACCATTTCAAGTGCTCTTGCCCACCAGGCACTCGGG|GTACCGCATGTCTTCTACAGGTTCACGGGTGCAGTGGCTGGTGGGAGCCTCAGGTTCCAGGTCCAGAGCTCCAGGTGTCGCAGGCTTGACCTTGGAAAGATGGATCCAGCTACTTAATCCTAGTACTTTGACCTCCGAAGGCATGGCTAACACCACT NOTCH2 LY6H(15804),GPIHBP1(36703) ENSG00000134250 . ceCVPGYQGVNCEYEVDECQNQPCQNGGTCIDLVNHFKCSCPPGTR|gtacllqvhgcsgwwepqvpgpelqvsqa* LH00166:186:2372Y3LT4:8:1172:32365:13765,LH00166:186:2372Y3LT4:8:1172:32373:13779,LH00166:186:2372Y3LT4:8:1173:10449:12462,LH00166:186:2372Y3LT4:8:1283:36628:14508,LH00166:186:2372Y3LT4:8:2176:4325:27721 out-of-frame Calcium-binding_EGF_domain(100%),EGF-like_domain(90%),Human_growth_factor-like_EGF(100%)| CDS/splice-site intergenic 1 2 -/- ./+ . 3 ENST00000256646 . translocation 0.00013257324671881213 0.4 0.20006628662335943 659_bld Arriba
fp_audit 659_bld fusion NOTCH2--RFTN2 RFTN2--NOTCH2 NOTCH2--RFTN2 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bld altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_bld_T1_TRNA_1 tRNA altera_exact ssf 412.00 84.76 False cgp_rna_exp0034_lib_s08 200.00 128.09 cgp_rna_exp0034 H01 False 659_bld_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bld_T1_TRNA_1_B2372Y3LT4_1 BND chr2 chr1 RFTN2 NOTCH2 197675320 119949126 chr2:197675320-chr1:119949126 -,- Arriba 1 1 140 141 PASS in-frame RFTN2--NOTCH2 NOTCH2--RFTN2 confidence:high;duplicates(79) high translocation CDS/splice-site CDS/splice-site 185 6349 79.0 0.0 0.0 0.0 40 100 True duplicates(79) PASS False chr2:197675320 chr1:119949126 chr2:197675320-chr1:119949126 . . high 185 6349 upstream downstream 1 duplicates(79) GACCCTGATGATAGCAGCCCTGGAAAAATATTTTCTACCCTGAAGAGACCGCAAGTGGAAACAAAGACAGAATTTGCTTACGAATATGTATTGCTGGATTTTACTCTACAAG|GCAAGAATTGTCAGACAGTATTGGCTCCCTGTTCCCCAAACCCTTGTGAGAATGCTGCTGTTTGCAAAGAGTCACCAAATTTTGAGAGTTATACTTGCTTGTGTGCTCCTGGCTGGCAAG___GTCAGCGGTGTACCATTGACATTGACGAGTGTATCTCCAAGCCCTGCATGAACCATGGTCTCTGCCA RFTN2 NOTCH2 ENSG00000162944 ENSG00000134250 DPDDSSPGKIFSTLKRPQVETKTEFAYEYVLLDFTLQ|gKNCQTVLAPCSPNPCENAAVCKESPNFESYTCLCAPGWQGQRCTIDIDECISKPCMNHGLC LH00166:186:2372Y3LT4:8:1102:34452:9954,LH00166:186:2372Y3LT4:8:1117:36450:5484,LH00166:186:2372Y3LT4:8:1117:36458:5470,LH00166:186:2372Y3LT4:8:1130:9260:23826,LH00166:186:2372Y3LT4:8:1133:10902:24905,LH00166:186:2372Y3LT4:8:1133:10918:24905,LH00166:186:2372Y3LT4:8:1149:21443:28983,LH00166:186:2372Y3LT4:8:1149:21452:28997,LH00166:186:2372Y3LT4:8:1159:50535:12644,LH00166:186:2372Y3LT4:8:1169:47509:16848,LH00166:186:2372Y3LT4:8:1178:6356:8342,LH00166:186:2372Y3LT4:8:1188:27689:17997,LH00166:186:2372Y3LT4:8:1191:38837:19118,LH00166:186:2372Y3LT4:8:1192:46247:7320,LH00166:186:2372Y3LT4:8:1192:46255:7306,LH00166:186:2372Y3LT4:8:1192:5765:1518,LH00166:186:2372Y3LT4:8:1195:39379:6941,LH00166:186:2372Y3LT4:8:1196:47437:9604,LH00166:186:2372Y3LT4:8:1198:50705:2653,LH00166:186:2372Y3LT4:8:1204:33125:7039,LH00166:186:2372Y3LT4:8:1205:29865:5120,LH00166:186:2372Y3LT4:8:1206:9745:7852,LH00166:186:2372Y3LT4:8:1228:10951:25493,LH00166:186:2372Y3LT4:8:1230:25027:28772,LH00166:186:2372Y3LT4:8:1237:15991:11803,LH00166:186:2372Y3LT4:8:1239:46231:1687,LH00166:186:2372Y3LT4:8:1246:32171:13373,LH00166:186:2372Y3LT4:8:1246:32179:13359,LH00166:186:2372Y3LT4:8:1262:20780:9113,LH00166:186:2372Y3LT4:8:1262:38869:8553,LH00166:186:2372Y3LT4:8:1262:4527:25297,LH00166:186:2372Y3LT4:8:1263:32632:14648,LH00166:186:2372Y3LT4:8:1264:18038:4027,LH00166:186:2372Y3LT4:8:1271:17326:2766,LH00166:186:2372Y3LT4:8:1282:27462:3312,LH00166:186:2372Y3LT4:8:1293:19429:27119,LH00166:186:2372Y3LT4:8:1295:32252:21220,LH00166:186:2372Y3LT4:8:1314:44225:26741,LH00166:186:2372Y3LT4:8:1314:44241:26741,LH00166:186:2372Y3LT4:8:1321:39080:14242,LH00166:186:2372Y3LT4:8:1328:21937:25830,LH00166:186:2372Y3LT4:8:1328:34954:11523,LH00166:186:2372Y3LT4:8:1330:12496:26404,LH00166:186:2372Y3LT4:8:1331:46409:22397,LH00166:186:2372Y3LT4:8:1340:11363:21696,LH00166:186:2372Y3LT4:8:1345:29655:3746,LH00166:186:2372Y3LT4:8:1345:29663:3760,LH00166:186:2372Y3LT4:8:1348:46150:27133,LH00166:186:2372Y3LT4:8:1355:22188:4097,LH00166:186:2372Y3LT4:8:1356:6137:8384,LH00166:186:2372Y3LT4:8:1357:12666:6465,LH00166:186:2372Y3LT4:8:1357:16735:11495,LH00166:186:2372Y3LT4:8:1362:3306:5890,LH00166:186:2372Y3LT4:8:1372:24008:9604,LH00166:186:2372Y3LT4:8:1372:46280:12336,LH00166:186:2372Y3LT4:8:1376:26217:2611,LH00166:186:2372Y3LT4:8:1379:32446:24723,LH00166:186:2372Y3LT4:8:1381:3014:23069,LH00166:186:2372Y3LT4:8:1391:2027:7095,LH00166:186:2372Y3LT4:8:1391:40423:16512,LH00166:186:2372Y3LT4:8:1397:45268:6605,LH00166:186:2372Y3LT4:8:1403:29493:27904,LH00166:186:2372Y3LT4:8:1409:31087:3396,LH00166:186:2372Y3LT4:8:1415:30213:6843,LH00166:186:2372Y3LT4:8:1417:20028:14928,LH00166:186:2372Y3LT4:8:1417:20044:14928,LH00166:186:2372Y3LT4:8:1436:47954:20029,LH00166:186:2372Y3LT4:8:1436:47962:20043,LH00166:186:2372Y3LT4:8:1437:20109:16498,LH00166:186:2372Y3LT4:8:1438:21435:23560,LH00166:186:2372Y3LT4:8:1449:3014:11383,LH00166:186:2372Y3LT4:8:1453:13661:9421,LH00166:186:2372Y3LT4:8:1459:2214:14172,LH00166:186:2372Y3LT4:8:1459:2222:14158,LH00166:186:2372Y3LT4:8:1461:10659:1392,LH00166:186:2372Y3LT4:8:1461:17220:24078,LH00166:186:2372Y3LT4:8:1462:51368:26166,LH00166:186:2372Y3LT4:8:1471:27115:11369,LH00166:186:2372Y3LT4:8:1471:27123:11383,LH00166:186:2372Y3LT4:8:1474:17002:29417,LH00166:186:2372Y3LT4:8:1475:25755:14340,LH00166:186:2372Y3LT4:8:1480:13936:15867,LH00166:186:2372Y3LT4:8:1482:16816:13709,LH00166:186:2372Y3LT4:8:1482:46498:27792,LH00166:186:2372Y3LT4:8:1482:46506:27777,LH00166:186:2372Y3LT4:8:1488:38594:15895,LH00166:186:2372Y3LT4:8:1488:43942:25718,LH00166:186:2372Y3LT4:8:1488:45608:14508,LH00166:186:2372Y3LT4:8:2101:20829:15923,LH00166:186:2372Y3LT4:8:2106:42324:24120,LH00166:186:2372Y3LT4:8:2111:10352:2738,LH00166:186:2372Y3LT4:8:2113:26030:22355,LH00166:186:2372Y3LT4:8:2120:45560:21010,LH00166:186:2372Y3LT4:8:2130:38400:5218,LH00166:186:2372Y3LT4:8:2132:35099:2135,LH00166:186:2372Y3LT4:8:2155:11080:3746,LH00166:186:2372Y3LT4:8:2155:7529:17885,LH00166:186:2372Y3LT4:8:2156:32341:17310,LH00166:186:2372Y3LT4:8:2165:45552:28702,LH00166:186:2372Y3LT4:8:2166:28360:15349,LH00166:186:2372Y3LT4:8:2167:6720:18557,LH00166:186:2372Y3LT4:8:2187:43149:7698,LH00166:186:2372Y3LT4:8:2193:24720:14228,LH00166:186:2372Y3LT4:8:2205:29299:26699,LH00166:186:2372Y3LT4:8:2219:47501:23532,LH00166:186:2372Y3LT4:8:2230:31912:21164,LH00166:186:2372Y3LT4:8:2241:19583:3564,LH00166:186:2372Y3LT4:8:2248:15683:2780,LH00166:186:2372Y3LT4:8:2248:3006:10809,LH00166:186:2372Y3LT4:8:2255:15392:12084,LH00166:186:2372Y3LT4:8:2259:50228:9141,LH00166:186:2372Y3LT4:8:2270:22163:27455,LH00166:186:2372Y3LT4:8:2279:17487:23476,LH00166:186:2372Y3LT4:8:2289:37340:20225,LH00166:186:2372Y3LT4:8:2291:38675:7348,LH00166:186:2372Y3LT4:8:2292:31338:25241,LH00166:186:2372Y3LT4:8:2295:32122:18193,LH00166:186:2372Y3LT4:8:2307:5166:10514,LH00166:186:2372Y3LT4:8:2311:25642:8903,LH00166:186:2372Y3LT4:8:2311:25658:8903,LH00166:186:2372Y3LT4:8:2318:31119:20687,LH00166:186:2372Y3LT4:8:2318:31135:20687,LH00166:186:2372Y3LT4:8:2320:18402:8216,LH00166:186:2372Y3LT4:8:2323:25189:25634,LH00166:186:2372Y3LT4:8:2323:38578:26628,LH00166:186:2372Y3LT4:8:2326:2780:18740,LH00166:186:2372Y3LT4:8:2348:42453:8230,LH00166:186:2372Y3LT4:8:2349:50309:12168,LH00166:186:2372Y3LT4:8:2349:50325:12168,LH00166:186:2372Y3LT4:8:2357:38125:11888,LH00166:186:2372Y3LT4:8:2357:42332:2247,LH00166:186:2372Y3LT4:8:2357:42340:2233,LH00166:186:2372Y3LT4:8:2359:12480:16091,LH00166:186:2372Y3LT4:8:2371:39646:11439,LH00166:186:2372Y3LT4:8:2377:36005:25620,LH00166:186:2372Y3LT4:8:2386:15449:15012,LH00166:186:2372Y3LT4:8:2388:8313:11173,LH00166:186:2372Y3LT4:8:2390:47380:19230,LH00166:186:2372Y3LT4:8:2402:31329:9758,LH00166:186:2372Y3LT4:8:2416:7690:2247,LH00166:186:2372Y3LT4:8:2424:34031:14438,LH00166:186:2372Y3LT4:8:2424:8208:26040,LH00166:186:2372Y3LT4:8:2428:5352:12854,LH00166:186:2372Y3LT4:8:2431:12010:19482,LH00166:186:2372Y3LT4:8:2432:18879:16357,LH00166:186:2372Y3LT4:8:2439:28474:1280,LH00166:186:2372Y3LT4:8:2442:1663:24120,LH00166:186:2372Y3LT4:8:2442:37931:16736,LH00166:186:2372Y3LT4:8:2443:9284:12126,LH00166:186:2372Y3LT4:8:2445:2254:26236,LH00166:186:2372Y3LT4:8:2454:10473:3396,LH00166:186:2372Y3LT4:8:2457:43594:7572,LH00166:186:2372Y3LT4:8:2465:20990:14326,LH00166:186:2372Y3LT4:8:2474:10328:1406,LH00166:186:2372Y3LT4:8:2474:34290:6143,LH00166:186:2372Y3LT4:8:2492:48278:12406,LH00166:186:2372Y3LT4:8:2493:34582:28926,LH00166:186:2372Y3LT4:8:2493:34598:28926,LH00166:186:2372Y3LT4:8:2494:48286:14550,LH00166:186:2372Y3LT4:8:2494:48286:14578,LH00166:186:2372Y3LT4:8:2494:48294:14564,LH00166:186:2372Y3LT4:8:2496:31880:15082,LH00166:186:2372Y3LT4:8:1105:10991:8300,LH00166:186:2372Y3LT4:8:1107:30731:8917,LH00166:186:2372Y3LT4:8:1108:7771:16820,LH00166:186:2372Y3LT4:8:1108:7779:16834,LH00166:186:2372Y3LT4:8:1136:3702:24597,LH00166:186:2372Y3LT4:8:1136:3710:24218,LH00166:186:2372Y3LT4:8:1150:19866:20561,LH00166:186:2372Y3LT4:8:1150:19874:20575,LH00166:186:2372Y3LT4:8:1153:38384:28226,LH00166:186:2372Y3LT4:8:1168:33951:15194,LH00166:186:2372Y3LT4:8:1179:44160:29095,LH00166:186:2372Y3LT4:8:1179:44168:29109,LH00166:186:2372Y3LT4:8:1228:18863:3578,LH00166:186:2372Y3LT4:8:1240:35941:28366,LH00166:186:2372Y3LT4:8:1245:38279:12322,LH00166:186:2372Y3LT4:8:1275:20319:26138,LH00166:186:2372Y3LT4:8:1275:6881:11495,LH00166:186:2372Y3LT4:8:1292:1995:28983,LH00166:186:2372Y3LT4:8:1329:22091:26544,LH00166:186:2372Y3LT4:8:1379:17366:11467,LH00166:186:2372Y3LT4:8:1391:29736:11061,LH00166:186:2372Y3LT4:8:1412:41588:3424,LH00166:186:2372Y3LT4:8:1414:15246:19622,LH00166:186:2372Y3LT4:8:1416:40673:8398,LH00166:186:2372Y3LT4:8:1429:15869:27735,LH00166:186:2372Y3LT4:8:1430:13798:22859,LH00166:186:2372Y3LT4:8:1435:32964:18557,LH00166:186:2372Y3LT4:8:1439:18410:28492,LH00166:186:2372Y3LT4:8:1444:49928:22691,LH00166:186:2372Y3LT4:8:1450:21217:3873,LH00166:186:2372Y3LT4:8:1450:21225:3859,LH00166:186:2372Y3LT4:8:1452:20246:4657,LH00166:186:2372Y3LT4:8:2134:14292:28114,LH00166:186:2372Y3LT4:8:2155:13976:9043,LH00166:186:2372Y3LT4:8:2163:13960:10556,LH00166:186:2372Y3LT4:8:2167:7383:28058,LH00166:186:2372Y3LT4:8:2174:43222:1743,LH00166:186:2372Y3LT4:8:2183:50818:27147,LH00166:186:2372Y3LT4:8:2194:48958:16217,LH00166:186:2372Y3LT4:8:2205:21541:19510,LH00166:186:2372Y3LT4:8:2232:33813:19244,LH00166:186:2372Y3LT4:8:2238:11800:3873,LH00166:186:2372Y3LT4:8:2275:23239:22789,LH00166:186:2372Y3LT4:8:2275:23248:22803,LH00166:186:2372Y3LT4:8:2275:5983:12798,LH00166:186:2372Y3LT4:8:2321:3662:20743,LH00166:186:2372Y3LT4:8:2322:14996:27203,LH00166:186:2372Y3LT4:8:2323:1858:18571,LH00166:186:2372Y3LT4:8:2327:46385:27091,LH00166:186:2372Y3LT4:8:2361:15052:5442,LH00166:186:2372Y3LT4:8:2374:9195:10010,LH00166:186:2372Y3LT4:8:2381:9074:28856,LH00166:186:2372Y3LT4:8:2389:43990:9351,LH00166:186:2372Y3LT4:8:2443:5514:14396,LH00166:186:2372Y3LT4:8:2465:27090:20687,LH00166:186:2372Y3LT4:8:2465:37348:21892,LH00166:186:2372Y3LT4:8:2465:37356:21906,LH00166:186:2372Y3LT4:8:2110:35876:9001 in-frame Raftlin(10%)|Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%),Calcium-binding_EGF_domain(23%),EGF-like_domain(46%),LNR_domain(100%),NA(100%),NOTCH_protein(100%) CDS/splice-site CDS/splice-site 40 100 -/- -/- . 141 ENST00000295049 ENST00000256646 translocation 0.17960088691796008 0.015582603302581596 0.09759174511027084 659_bld Arriba
fp_audit 659_bld fusion NOTCH2--RFTN2 RFTN2--NOTCH2 NOTCH2--RFTN2 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bld altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_bld_T1_TRNA_1 tRNA altera_exact ssf 412.00 84.76 False cgp_rna_exp0034_lib_s08 200.00 128.09 cgp_rna_exp0034 H01 False 659_bld_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bld_T1_TRNA_1_B2372Y3LT4_1 BND chr2 chr1 RFTN2 NOTCH2 197675320 119941754 chr2:197675320-chr1:119941754 -,- Arriba 1 0 13 13 PASS in-frame RFTN2--NOTCH2 NOTCH2--RFTN2 confidence:medium;duplicates(4) medium translocation CDS/splice-site CDS/splice-site 185 4386 4.0 0.0 0.0 0.0 3 10 True duplicates(4) FAIL False chr2:197675320 chr1:119941754 chr2:197675320-chr1:119941754 . . medium 185 4386 upstream downstream 0 confidence_below_min(medium<high) duplicates(4) CCTGATGATAGCAGCCCTGGAAAAATATTTTCTACCCTGAAGAGACCGCAAGTGGAAACAAAGACAGAATTTGCTTACGAATATGTATTGCTGGATTTTACTCTACAAG|ATCCTTGCCAGAATGGAGGTTCCTGTATGGATGGAGTGAATACTTTCTCCTGCCTCTGCCTTCCGGGTTTCACTGGGGATAAGTGCCAGACAGACATGAATGAGTGTCTGAGTGAACCCTGTAAGAATGGAGGGACCTGCTCTGACTACGTCAACAGTTACACTTGCAAGTGCCAGG RFTN2 NOTCH2 ENSG00000162944 ENSG00000134250 PDDSSPGKIFSTLKRPQVETKTEFAYEYVLLDFTLQ|dPCQNGGSCMDGVNTFSCLCLPGFTGDKCQTDMNECLSEPCKNGGTCSDYVNSYTCKCQ LH00166:186:2372Y3LT4:8:1126:48456:3494,LH00166:186:2372Y3LT4:8:1226:21743:17563,LH00166:186:2372Y3LT4:8:1288:24032:6114,LH00166:186:2372Y3LT4:8:1303:46846:11411,LH00166:186:2372Y3LT4:8:1385:4600:20968,LH00166:186:2372Y3LT4:8:1414:24679:25536,LH00166:186:2372Y3LT4:8:1489:11752:14858,LH00166:186:2372Y3LT4:8:2119:41272:16329,LH00166:186:2372Y3LT4:8:2185:50786:4363,LH00166:186:2372Y3LT4:8:2223:9203:6353,LH00166:186:2372Y3LT4:8:2265:11905:8006,LH00166:186:2372Y3LT4:8:2295:45406:20715,LH00166:186:2372Y3LT4:8:2365:19534:17997,LH00166:186:2372Y3LT4:8:2485:28004:25942,LH00166:186:2372Y3LT4:8:1287:22997:20687,LH00166:186:2372Y3LT4:8:1362:14276:13429,LH00166:186:2372Y3LT4:8:2244:30318:16526 in-frame Raftlin(10%)|Ankyrin_repeats_(3_copies)(100%),Ankyrin_repeats_(many_copies)(100%),EGF-like_domain(41%),LNR_domain(100%),NA(100%),NOTCH_protein(100%) CDS/splice-site CDS/splice-site 3 10 -/- -/- . 13 ENST00000295049 ENST00000256646 translocation 0.015957446808510637 0.0022747952684258415 0.009116121038468239 659_bld Arriba
fp_audit 659_bld fusion NOTCH2--RFTN2 RFTN2--NOTCH2 NOTCH2--RFTN2 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_bld altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_bld_T1_TRNA_1 tRNA altera_exact ssf 412.00 84.76 False cgp_rna_exp0034_lib_s08 200.00 128.09 cgp_rna_exp0034 H01 False 659_bld_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_bld_T1_TRNA_1_B2372Y3LT4_1 BND chr2 chr1 RFTN2 NOTCH2 197675320 119949126 chr2:197675320-chr1:119949126 -,- STAR-Fusion 1 1 141 0.9942 142 PASS in-frame RFTN2--NOTCH2 NOTCH2--RFTN2 "[""INTERCHROMOSOMAL[chr2--chr1]""]" ONLY_REF_SPLICE YES_LDAS 1.7819 False False False GT AG 141 True 1 ENST00000429081.1 1-139 ENST00000256646.7 2480-7416 0.9942 PASS atggggtgcggacttagaaagctagaagaccctgatgatagcagccctggaaaaatattttctaccctgaagagaccgcaagtggaaacaaagacagaatttgcttacgaatatgtattgctggattttactctacaagGCAAGAATTGTCAGACAGTATTGGCTCCCTGTTCCCCAAACCCTTGTGAGAATGCTGCTGTTTGCAAAGAGTCACCAAATTTTGAGAGTTATACTTGCTTGTGTGCTCCTGGCTGGCAAGGTCAGCGGTGTACCATTGACATTGACGAGTGTATCTCCAAGCCCTGCATGAACCATGGTCTCTGCCATAACACCCAGGGCAGCTACATGTGTGAATGTCCACCAGGCTTCAGTGGTATGGACTGTGAGGAGGACATTGATGACTGCCTTGCCAATCCTTGCCAGAATGGAGGTTCCTGTATGGATGGAGTGAATACTTTCTCCTGCCTCTGCCTTCCGGGTTTCACTGGGGATAAGTGCCAGACAGACATGAATGAGTGTCTGAGTGAACCCTGTAAGAATGGAGGGACCTGCTCTGACTACGTCAACAGTTACACTTGCAAGTGCCAGGCAGGATTTGATGGAGTCCATTGTGAGAACAACATCAATGAGTGCACTGAGAGCTCCTGTTTCAATGGTGGCACATGTGTTGATGGGATTAACTCCTTCTCTTGCTTGTGCCCTGTGGGTTTCACTGGATCCTTCTGCCTCCATGAGATCAATGAATGCAGCTCTCATCCATGCCTGAATGAGGGAACGTGTGTTGATGGCCTGGGTACCTACCGCTGCAGCTGCCCCCTGGGCTACACTGGGAAAAACTGTCAGACCCTGGTGAATCTCTGCAGTCGGTCTCCATGTAAAAACAAAGGTACTTGCGTTCAGAAAAAAGCAGAGTCCCAGTGCCTATGTCCATCTGGATGGGCTGGTGCCTATTGTGACGTGCCCAATGTCTCTTGTGACATAGCAGCCTCCAGGAGAGGTGTGCTTGTTGAACACTTGTGCCAGCACTCAGGTGTCTGCATCAATGCTGGCAACACGCATTACTGTCAGTGCCCCCTGGGCTATACTGGGAGCTACTGTGAGGAGCAACTCGATGAGTGTGCGTCCAACCCCTGCCAGCACGGGGCAACATGCAGTGACTTCATTGGTGGATACAGATGCGAGTGTGTCCCAGGCTATCAGGGTGTCAACTGTGAGTATGAAGTGGATGAGTGCCAGAATCAGCCCTGCCAGAATGGAGGCACCTGTATTGACCTTGTGAACCATTTCAAGTGCTCTTGCCCACCAGGCACTCGGGGCCTACTCTGTGAAGAGAACATTGATGACTGTGCCCGGGGTCCCCATTGCCTTAATGGTGGTCAGTGCATGGATAGGATTGGAGGCTACAGTTGTCGCTGCTTGCCTGGCTTTGCTGGGGAGCGTTGTGAGGGAGACATCAACGAGTGCCTCTCCAACCCCTGCAGCTCTGAGGGCAGCCTGGACTGTATACAGCTCACCAATGACTACCTGTGTGTTTGCCGTAGTGCCTTTACTGGCCGGCACTGTGAAACCTTCGTCGATGTGTGTCCCCAGATGCCCTGCCTGAATGGAGGGACTTGTGCTGTGGCCAGTAACATGCCTGATGGTTTCATTTGCCGTTGTCCCCCGGGATTTTCCGGGGCAAGGTGCCAGAGCAGCTGTGGACAAGTGAAATGTAGGAAGGGGGAGCAGTGTGTGCACACCGCCTCTGGACCCCGCTGCTTCTGCCCCAGTCCCCGGGACTGCGAGTCAGGCTGTGCCAGTAGCCCCTGCCAGCACGGGGGCAGCTGCCACCCTCAGCGCCAGCCTCCTTATTACTCCTGCCAGTGTGCCCCACCATTCTCGGGTAGCCGCTGTGAACTCTACACGGCACCCCCCAGCACCCCTCCTGCCACCTGTCTGAGCCAGTATTGTGCCGACAAAGCTCGGGATGGCGTCTGTGATGAGGCCTGCAACAGCCATGCCTGCCAGTGGGATGGGGGTGACTGTTCTCTCACCATGGAGAACCCCTGGGCCAACTGCTCCTCCCCACTTCCCTGCTGGGATTATATCAACAACCAGTGTGATGAGCTGTGCAACACGGTCGAGTGCCTGTTTGACAACTTTGAATGCCAGGGGAACAGCAAGACATGCAAGTATGACAAATACTGTGCAGACCACTTCAAAGACAACCACTGTGACCAGGGGTGCAACAGTGAGGAGTGTGGTTGGGATGGGCTGGACTGTGCTGCTGACCAACCTGAGAACCTGGCAGAAGGTACCCTGGTTATTGTGGTATTGATGCCACCTGAACAACTGCTCCAGGATGCTCGCAGCTTCTTGCGGGCACTGGGTACCCTGCTCCACACCAACCTGCGCATTAAGCGGGACTCCCAGGGGGAACTCATGGTGTACCCCTATTATGGTGAGAAGTCAGCTGCTATGAAGAAACAGAGGATGACACGCAGATCCCTTCCTGGTGAACAAGAACAGGAGGTGGCTGGCTCTAAAGTCTTTCTGGAAATTGACAACCGCCAGTGTGTTCAAGACTCAGACCACTGCTTCAAGAACACGGATGCAGCAGCAGCTCTCCTGGCCTCTCACGCCATACAGGGGACCCTGTCATACCCTCTTGTGTCTGTCGTCAGTGAATCCCTGACTCCAGAACGCACTCAGCTCCTCTATCTCCTTGCTGTTGCTGTTGTCATCATTCTGTTTATTATTCTGCTGGGGGTAATCATGGCAAAACGAAAGCGTAAGCATGGCTCTCTCTGGCTGCCTGAAGGTTTCACTCTTCGCCGAGATGCAAGCAATCACAAGCGTCGTGAGCCAGTGGGACAGGATGCTGTGGGGCTGAAAAATCTCTCAGTGCAAGTCTCAGAAGCTAACCTAATTGGTACTGGAACAAGTGAACACTGGGTCGATGATGAAGGGCCCCAGCCAAAGAAAGTAAAGGCTGAAGATGAGGCCTTACTCTCAGAAGAAGATGACCCCATTGATCGACGGCCATGGACACAGCAGCACCTTGAAGCTGCAGACATCCGTAGGACACCATCGCTGGCTCTCACCCCTCCTCAGGCAGAGCAGGAGGTGGATGTGTTAGATGTGAATGTCCGTGGCCCAGATGGCTGCACCCCATTGATGTTGGCTTCTCTCCGAGGAGGCAGCTCAGATTTGAGTGATGAAGATGAAGATGCAGAGGACTCTTCTGCTAACATCATCACAGACTTGGTCTACCAGGGTGCCAGCCTCCAGGCCCAGACAGACCGGACTGGTGAGATGGCCCTGCACCTTGCAGCCCGCTACTCACGGGCTGATGCTGCCAAGCGTCTCCTGGATGCAGGTGCAGATGCCAATGCCCAGGACAACATGGGCCGCTGTCCACTCCATGCTGCAGTGGCAGCTGATGCCCAAGGTGTCTTCCAGATTCTGATTCGCAACCGAGTAACTGATCTAGATGCCAGGATGAATGATGGTACTACACCCCTGATCCTGGCTGCCCGCCTGGCTGTGGAGGGAATGGTGGCAGAACTGATCAACTGCCAAGCGGATGTGAATGCAGTGGATGACCATGGAAAATCTGCTCTTCACTGGGCAGCTGCTGTCAATAATGTGGAGGCAACTCTTTTGTTGTTGAAAAATGGGGCCAACCGAGACATGCAGGACAACAAGGAAGAGACACCTCTGTTTCTTGCTGCCCGGGAGGGGAGCTATGAAGCAGCCAAGATCCTGTTAGACCATTTTGCCAATCGAGACATCACAGACCATATGGATCGTCTTCCCCGGGATGTGGCTCGGGATCGCATGCACCATGACATTGTGCGCCTTCTGGATGAATACAATGTGACCCCAAGCCCTCCAGGCACCGTGTTGACTTCTGCTCTCTCACCTGTCATCTGTGGGCCCAACAGATCTTTCCTCAGCCTGAAGCACACCCCAATGGGCAAGAAGTCTAGACGGCCCAGTGCCAAGAGTACCATGCCTACTAGCCTCCCTAACCTTGCCAAGGAGGCAAAGGATGCCAAGGGTAGTAGGAGGAAGAAGTCTCTGAGTGAGAAGGTCCAACTGTCTGAGAGTTCAGTAACTTTATCCCCTGTTGATTCCCTAGAATCTCCTCACACGTATGTTTCCGACACCACATCCTCTCCAATGATTACATCCCCTGGGATCTTACAGGCCTCACCCAACCCTATGTTGGCCACTGCCGCCCCTCCTGCCCCAGTCCATGCCCAGCATGCACTATCTTTTTCTAACCTTCATGAAATGCAGCCTTTGGCACATGGGGCCAGCACTGTGCTTCCCTCAGTGAGCCAGTTGCTATCCCACCACCACATTGTGTCTCCAGGCAGTGGCAGTGCTGGAAGCTTGAGTAGGCTCCATCCAGTCCCAGTCCCAGCAGATTGGATGAACCGCATGGAGGTGAATGAGACCCAGTACAATGAGATGTTTGGTATGGTCCTGGCTCCAGCTGAGGGCACCCATCCTGGCATAGCTCCCCAGAGCAGGCCACCTGAAGGGAAGCACATAACCACCCCTCGGGAGCCCTTGCCCCCCATTGTGACTTTCCAGCTCATCCCTAAAGGCAGTATTGCCCAACCAGCGGGGGCTCCCCAGCCTCAGTCCACCTGCCCTCCAGCTGTTGCGGGCCCCCTGCCCACCATGTACCAGATTCCAGAAATGGCCCGTTTGCCCAGTGTGGCTTTCCCCACTGCCATGATGCCCCAGCAGGACGGGCAGGTAGCTCAGACCATTCTCCCAGCCTATCATCCTTTCCCAGCCTCTGTGGGCAAGTACCCCACACCCCCTTCACAGCACAGTTATGCTTCCTCAAATGCTGCTGAGCGAACACCCAGTCACAGTGGTCACCTCCAGGGTGAGCATCCCTACCTGACACCATCCCCAGAGTCTCCTGACCAGTGGTCAAGTTCATCACCCCACTCTGCTTCTGACTGGTCAGATGTGACCACCAGCCCTACCCCTGGGGGTGCTGGAGGAGGTCAGCGGGGACCTGGGACACACATGTCTGAGCCACCACACAACAACATGCAGGTTTATGCGTGA chr2|-|[0]197675320-197675458[0]<==>chr1|-|[2]119915306-119916694[0]|[2]119917665-119917762[1]|[0]119918406-119918553[0]|[2]119919312-119919613[1]|[0]119920229-119920397[0]|[2]119921713-119921809[2]|[1]119922236-119922446[1]|[0]119922636-119922778[2]|[1]119923637-119923984[2]|[1]119925305-119925810[0]|[2]119926499-119926611[1]|[0]119928976-119929212[1]|[0]119935472-119935604[0]|[2]119937282-119937466[1]|[0]119937857-119938010[0]|[2]119940555-119940756[2]|[1]119941526-119941754[1]|[0]119948414-119948566[1]|[0]119949007-119949126[1] MGCGLRKLEDPDDSSPGKIFSTLKRPQVETKTEFAYEYVLLDFTLQGKNCQTVLAPCSPNPCENAAVCKESPNFESYTCLCAPGWQGQRCTIDIDECISKPCMNHGLCHNTQGSYMCECPPGFSGMDCEEDIDDCLANPCQNGGSCMDGVNTFSCLCLPGFTGDKCQTDMNECLSEPCKNGGTCSDYVNSYTCKCQAGFDGVHCENNINECTESSCFNGGTCVDGINSFSCLCPVGFTGSFCLHEINECSSHPCLNEGTCVDGLGTYRCSCPLGYTGKNCQTLVNLCSRSPCKNKGTCVQKKAESQCLCPSGWAGAYCDVPNVSCDIAASRRGVLVEHLCQHSGVCINAGNTHYCQCPLGYTGSYCEEQLDECASNPCQHGATCSDFIGGYRCECVPGYQGVNCEYEVDECQNQPCQNGGTCIDLVNHFKCSCPPGTRGLLCEENIDDCARGPHCLNGGQCMDRIGGYSCRCLPGFAGERCEGDINECLSNPCSSEGSLDCIQLTNDYLCVCRSAFTGRHCETFVDVCPQMPCLNGGTCAVASNMPDGFICRCPPGFSGARCQSSCGQVKCRKGEQCVHTASGPRCFCPSPRDCESGCASSPCQHGGSCHPQRQPPYYSCQCAPPFSGSRCELYTAPPSTPPATCLSQYCADKARDGVCDEACNSHACQWDGGDCSLTMENPWANCSSPLPCWDYINNQCDELCNTVECLFDNFECQGNSKTCKYDKYCADHFKDNHCDQGCNSEECGWDGLDCAADQPENLAEGTLVIVVLMPPEQLLQDARSFLRALGTLLHTNLRIKRDSQGELMVYPYYGEKSAAMKKQRMTRRSLPGEQEQEVAGSKVFLEIDNRQCVQDSDHCFKNTDAAAALLASHAIQGTLSYPLVSVVSESLTPERTQLLYLLAVAVVIILFIILLGVIMAKRKRKHGSLWLPEGFTLRRDASNHKRREPVGQDAVGLKNLSVQVSEANLIGTGTSEHWVDDEGPQPKKVKAEDEALLSEEDDPIDRRPWTQQHLEAADIRRTPSLALTPPQAEQEVDVLDVNVRGPDGCTPLMLASLRGGSSDLSDEDEDAEDSSANIITDLVYQGASLQAQTDRTGEMALHLAARYSRADAAKRLLDAGADANAQDNMGRCPLHAAVAADAQGVFQILIRNRVTDLDARMNDGTTPLILAARLAVEGMVAELINCQADVNAVDDHGKSALHWAAAVNNVEATLLLLKNGANRDMQDNKEETPLFLAAREGSYEAAKILLDHFANRDITDHMDRLPRDVARDRMHHDIVRLLDEYNVTPSPPGTVLTSALSPVICGPNRSFLSLKHTPMGKKSRRPSAKSTMPTSLPNLAKEAKDAKGSRRKKSLSEKVQLSESSVTLSPVDSLESPHTYVSDTTSSPMITSPGILQASPNPMLATAAPPAPVHAQHALSFSNLHEMQPLAHGASTVLPSVSQLLSHHHIVSPGSGSAGSLSRLHPVPVPADWMNRMEVNETQYNEMFGMVLAPAEGTHPGIAPQSRPPEGKHITTPREPLPPIVTFQLIPKGSIAQPAGAPQPQSTCPPAVAGPLPTMYQIPEMARLPSVAFPTAMMPQQDGQVAQTILPAYHPFPASVGKYPTPPSQHSYASSNAAERTPSHSGHLQGEHPYLTPSPESPDQWSSSSPHSASDWSDVTTSPTPGGAGGGQRGPGTHMSEPPHNNMQVYA* RFTN2--NOTCH2 141 LH00166:186:2372Y3LT4:8:1102:34452:9954,LH00166:186:2372Y3LT4:8:1105:10991:8300,LH00166:186:2372Y3LT4:8:1107:30731:8917,LH00166:186:2372Y3LT4:8:1117:36450:5484,LH00166:186:2372Y3LT4:8:1130:9260:23826,LH00166:186:2372Y3LT4:8:1133:10902:24905,LH00166:186:2372Y3LT4:8:1136:3702:24597,LH00166:186:2372Y3LT4:8:1149:21443:28983,LH00166:186:2372Y3LT4:8:1150:19866:20561,LH00166:186:2372Y3LT4:8:1153:38384:28226,LH00166:186:2372Y3LT4:8:1159:50535:12644,LH00166:186:2372Y3LT4:8:1168:33951:15194,LH00166:186:2372Y3LT4:8:1169:47509:16848,LH00166:186:2372Y3LT4:8:1178:6356:8342,LH00166:186:2372Y3LT4:8:1179:44160:29095,LH00166:186:2372Y3LT4:8:1188:27689:17997,LH00166:186:2372Y3LT4:8:1191:38837:19118,LH00166:186:2372Y3LT4:8:1192:5765:1518,LH00166:186:2372Y3LT4:8:1195:39379:6941,LH00166:186:2372Y3LT4:8:1196:47437:9604,LH00166:186:2372Y3LT4:8:1198:50705:2653,LH00166:186:2372Y3LT4:8:1204:33125:7039,LH00166:186:2372Y3LT4:8:1205:29865:5120,LH00166:186:2372Y3LT4:8:1206:9745:7852,LH00166:186:2372Y3LT4:8:1228:18863:3578,LH00166:186:2372Y3LT4:8:1230:25027:28772,LH00166:186:2372Y3LT4:8:1237:15991:11803,LH00166:186:2372Y3LT4:8:1239:46231:1687,LH00166:186:2372Y3LT4:8:1240:35941:28366,LH00166:186:2372Y3LT4:8:1246:32171:13373,LH00166:186:2372Y3LT4:8:1262:38869:8553,LH00166:186:2372Y3LT4:8:1263:32632:14648,LH00166:186:2372Y3LT4:8:1264:18038:4027,LH00166:186:2372Y3LT4:8:1271:17326:2766,LH00166:186:2372Y3LT4:8:1275:20319:26138,LH00166:186:2372Y3LT4:8:1275:6881:11495,LH00166:186:2372Y3LT4:8:1282:27462:3312,LH00166:186:2372Y3LT4:8:1292:1995:28983,LH00166:186:2372Y3LT4:8:1293:19429:27119,LH00166:186:2372Y3LT4:8:1295:32252:21220,LH00166:186:2372Y3LT4:8:1314:44225:26741,LH00166:186:2372Y3LT4:8:1328:21937:25830,LH00166:186:2372Y3LT4:8:1328:34954:11523,LH00166:186:2372Y3LT4:8:1330:12496:26404,LH00166:186:2372Y3LT4:8:1331:46409:22397,LH00166:186:2372Y3LT4:8:1340:11363:21696,LH00166:186:2372Y3LT4:8:1345:29655:3746,LH00166:186:2372Y3LT4:8:1348:46150:27133,LH00166:186:2372Y3LT4:8:1355:22188:4097,LH00166:186:2372Y3LT4:8:1356:6137:8384,LH00166:186:2372Y3LT4:8:1357:12666:6465,LH00166:186:2372Y3LT4:8:1357:16735:11495,LH00166:186:2372Y3LT4:8:1376:26217:2611,LH00166:186:2372Y3LT4:8:1379:17366:11467,LH00166:186:2372Y3LT4:8:1379:32446:24723,LH00166:186:2372Y3LT4:8:1391:2027:7095,LH00166:186:2372Y3LT4:8:1391:29736:11061,LH00166:186:2372Y3LT4:8:1391:40423:16512,LH00166:186:2372Y3LT4:8:1397:45268:6605,LH00166:186:2372Y3LT4:8:1403:29493:27904,LH00166:186:2372Y3LT4:8:1409:31087:3396,LH00166:186:2372Y3LT4:8:1412:41588:3424,LH00166:186:2372Y3LT4:8:1415:30213:6843,LH00166:186:2372Y3LT4:8:1416:40673:8398,LH00166:186:2372Y3LT4:8:1417:20028:14928,LH00166:186:2372Y3LT4:8:1429:15869:27735,LH00166:186:2372Y3LT4:8:1430:13798:22859,LH00166:186:2372Y3LT4:8:1435:32964:18557,LH00166:186:2372Y3LT4:8:1436:47954:20029,LH00166:186:2372Y3LT4:8:1437:20109:16498,LH00166:186:2372Y3LT4:8:1438:21435:23560,LH00166:186:2372Y3LT4:8:1439:18410:28492,LH00166:186:2372Y3LT4:8:1444:49928:22691,LH00166:186:2372Y3LT4:8:1449:3014:11383,LH00166:186:2372Y3LT4:8:1452:20246:4657,LH00166:186:2372Y3LT4:8:1459:2214:14172,LH00166:186:2372Y3LT4:8:1462:51368:26166,LH00166:186:2372Y3LT4:8:1471:27115:11369,LH00166:186:2372Y3LT4:8:1474:17002:29417,LH00166:186:2372Y3LT4:8:1482:16816:13709,LH00166:186:2372Y3LT4:8:1482:46498:27792,LH00166:186:2372Y3LT4:8:1488:38594:15895,LH00166:186:2372Y3LT4:8:2101:20829:15923,LH00166:186:2372Y3LT4:8:2106:42324:24120,LH00166:186:2372Y3LT4:8:2111:10352:2738,LH00166:186:2372Y3LT4:8:2113:26030:22355,LH00166:186:2372Y3LT4:8:2120:45560:21010,LH00166:186:2372Y3LT4:8:2130:38400:5218,LH00166:186:2372Y3LT4:8:2132:35099:2135,LH00166:186:2372Y3LT4:8:2134:14292:28114,LH00166:186:2372Y3LT4:8:2155:11080:3746,LH00166:186:2372Y3LT4:8:2155:13976:9043,LH00166:186:2372Y3LT4:8:2155:7529:17885,LH00166:186:2372Y3LT4:8:2163:13960:10556,LH00166:186:2372Y3LT4:8:2165:45552:28702,LH00166:186:2372Y3LT4:8:2166:28360:15349,LH00166:186:2372Y3LT4:8:2167:6720:18557,LH00166:186:2372Y3LT4:8:2167:7383:28058,LH00166:186:2372Y3LT4:8:2174:43222:1743,LH00166:186:2372Y3LT4:8:2183:50818:27147,LH00166:186:2372Y3LT4:8:2193:24720:14228,LH00166:186:2372Y3LT4:8:2194:48958:16217,LH00166:186:2372Y3LT4:8:2205:21541:19510,LH00166:186:2372Y3LT4:8:2232:33813:19244,LH00166:186:2372Y3LT4:8:2238:11800:3873,LH00166:186:2372Y3LT4:8:2241:19583:3564,LH00166:186:2372Y3LT4:8:2248:3006:10809,LH00166:186:2372Y3LT4:8:2255:15392:12084,LH00166:186:2372Y3LT4:8:2259:50228:9141,LH00166:186:2372Y3LT4:8:2270:22163:27455,LH00166:186:2372Y3LT4:8:2275:23239:22789,LH00166:186:2372Y3LT4:8:2275:5983:12798,LH00166:186:2372Y3LT4:8:2279:17487:23476,LH00166:186:2372Y3LT4:8:2291:38675:7348,LH00166:186:2372Y3LT4:8:2307:5166:10514,LH00166:186:2372Y3LT4:8:2311:25642:8903,LH00166:186:2372Y3LT4:8:2318:31119:20687,LH00166:186:2372Y3LT4:8:2323:1858:18571,LH00166:186:2372Y3LT4:8:2323:38578:26628,LH00166:186:2372Y3LT4:8:2327:46385:27091,LH00166:186:2372Y3LT4:8:2349:50309:12168,LH00166:186:2372Y3LT4:8:2361:15052:5442,LH00166:186:2372Y3LT4:8:2374:9195:10010,LH00166:186:2372Y3LT4:8:2377:36005:25620,LH00166:186:2372Y3LT4:8:2386:15449:15012,LH00166:186:2372Y3LT4:8:2390:47380:19230,LH00166:186:2372Y3LT4:8:2402:31329:9758,LH00166:186:2372Y3LT4:8:2416:7690:2247,LH00166:186:2372Y3LT4:8:2424:8208:26040,LH00166:186:2372Y3LT4:8:2428:5352:12854,LH00166:186:2372Y3LT4:8:2432:18879:16357,LH00166:186:2372Y3LT4:8:2439:28474:1280,LH00166:186:2372Y3LT4:8:2442:37931:16736,LH00166:186:2372Y3LT4:8:2443:5514:14396,LH00166:186:2372Y3LT4:8:2443:9284:12126,LH00166:186:2372Y3LT4:8:2457:43594:7572,LH00166:186:2372Y3LT4:8:2465:37348:21892,LH00166:186:2372Y3LT4:8:2474:10328:1406,LH00166:186:2372Y3LT4:8:2492:48278:12406,LH00166:186:2372Y3LT4:8:2494:48286:14550,LH00166:186:2372Y3LT4:8:2496:31880:15082 YES_LDAS GT 1.7819 chr2:197675320:- RFTN2^ENSG00000162944.11 Raftlin|1-112|1e-58 . INFRAME AG 1.8892 chr1:119949126:- NOTCH2^ENSG00000134250.20 1 LH00166:186:2372Y3LT4:8:2110:35876:9001 ONLY_REF_SPLICE "[""INTERCHROMOSOMAL[chr2--chr1]""]" False chr2:197675320-chr1:119949126 141.0 1.0 142 659_bld STAR-Fusion
fp_audit 659_cX2 fusion AC078927--ROS1 AC078927--ROS1 AC078927--ROS1 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr12 chr6 AC078927 ROS1 66169855 117329520 chr12:66169855-chr6:117329520 -,+ Arriba 1 0 162 162 PASS out-of-frame AC078927--ROS1 AC078927--ROS1 confidence:medium;duplicates(38),mismatches(4),multimappers(1) medium translocation/5'-5' CDS/splice-site intron 49419 129 38.0 4.0 0.0 1.0 117 45 False duplicates(38),mismatches(4),multimappers(1) FAIL False chr12:66169855 chr6:117329520 chr12:66169855-chr6:117329520 . . medium 49419 129 upstream upstream 0 confidence_below_min(medium<high) duplicates(38),mismatches(4),multimappers(1) CGGGACCGGTAGGGGTGCTGTTGCCATCATGGCTGACCCCGACCCCCGGTACCCTCGCTCCTCGATCGAGGACGACTTCAACTATGGCAGCAGCGTGGCCTCCGCCACCGTGCACATCCGAATGG|AATATATTAAGAGGAAAGACAACATTAAAGAAATATTCAGAGGCGGGGCCAAGATGGCCGACTAGAAGCAACTCCGTTCAGAGGTTCCTATTGAAAAAAACCATAATAAGTGTGTGAGTCCTTCACCGGCAAGGTATCTAGATTCGC AC078927.1 ROS1 ENSG00000228144 ENSG00000047936 MADPDPRYPRSSIEDDFNYGSSVASATVHIRM|eyikrkdnikeifrggakmad* LH00166:186:2372Y3LT4:8:1168:14882:12938,LH00166:186:2372Y3LT4:8:1197:40641:20645,LH00166:186:2372Y3LT4:8:1198:43173:2331,LH00166:186:2372Y3LT4:8:1202:33295:15433,LH00166:186:2372Y3LT4:8:1247:40398:9576,LH00166:186:2372Y3LT4:8:1277:40050:6731,LH00166:186:2372Y3LT4:8:1279:48246:17535,LH00166:186:2372Y3LT4:8:1296:32098:25465,LH00166:186:2372Y3LT4:8:1298:6655:26012,LH00166:186:2372Y3LT4:8:1301:44055:18936,LH00166:186:2372Y3LT4:8:1310:7804:16007,LH00166:186:2372Y3LT4:8:1321:9276:15727,LH00166:186:2372Y3LT4:8:1350:25205:27315,LH00166:186:2372Y3LT4:8:1353:30650:21360,LH00166:186:2372Y3LT4:8:1355:41943:23209,LH00166:186:2372Y3LT4:8:1368:31030:11173,LH00166:186:2372Y3LT4:8:1369:42397:22285,LH00166:186:2372Y3LT4:8:1382:45624:8427,LH00166:186:2372Y3LT4:8:1394:35334:14368,LH00166:186:2372Y3LT4:8:1428:20092:19804,LH00166:186:2372Y3LT4:8:1457:35577:8230,LH00166:186:2372Y3LT4:8:1485:5903:2205,LH00166:186:2372Y3LT4:8:2138:41968:14872,LH00166:186:2372Y3LT4:8:2175:21233:13065,LH00166:186:2372Y3LT4:8:2177:33740:18669,LH00166:186:2372Y3LT4:8:2204:1235:17268,LH00166:186:2372Y3LT4:8:2251:18766:27399,LH00166:186:2372Y3LT4:8:2259:46846:29739,LH00166:186:2372Y3LT4:8:2259:46862:29739,LH00166:186:2372Y3LT4:8:2275:41620:9505,LH00166:186:2372Y3LT4:8:2279:2990:3578,LH00166:186:2372Y3LT4:8:2291:15659:2401,LH00166:186:2372Y3LT4:8:2291:46498:7530,LH00166:186:2372Y3LT4:8:2310:24979:20841,LH00166:186:2372Y3LT4:8:2312:42817:6114,LH00166:186:2372Y3LT4:8:2339:12277:22635,LH00166:186:2372Y3LT4:8:2349:45139:27679,LH00166:186:2372Y3LT4:8:2350:34865:7894,LH00166:186:2372Y3LT4:8:2377:42041:26208,LH00166:186:2372Y3LT4:8:2378:31111:24373,LH00166:186:2372Y3LT4:8:2398:5320:27483,LH00166:186:2372Y3LT4:8:2398:5328:27497,LH00166:186:2372Y3LT4:8:2405:43739:13765,LH00166:186:2372Y3LT4:8:2418:32721:8749,LH00166:186:2372Y3LT4:8:2440:32891:20897,LH00166:186:2372Y3LT4:8:2445:22778:11397,LH00166:186:2372Y3LT4:8:2476:8726:16624,LH00166:186:2372Y3LT4:8:2482:47315:3957,LH00166:186:2372Y3LT4:8:2487:33813:9744,LH00166:186:2372Y3LT4:8:1106:18127:29627,LH00166:186:2372Y3LT4:8:1106:24623:23448,LH00166:186:2372Y3LT4:8:1106:24631:23462,LH00166:186:2372Y3LT4:8:1111:22584:20001,LH00166:186:2372Y3LT4:8:1111:26872:24036,LH00166:186:2372Y3LT4:8:1123:12747:13079,LH00166:186:2372Y3LT4:8:1123:12763:13079,LH00166:186:2372Y3LT4:8:1126:27988:20925,LH00166:186:2372Y3LT4:8:1128:32324:18151,LH00166:186:2372Y3LT4:8:1130:45115:15867,LH00166:186:2372Y3LT4:8:1130:7148:12070,LH00166:186:2372Y3LT4:8:1147:38311:23027,LH00166:186:2372Y3LT4:8:1151:27980:13177,LH00166:186:2372Y3LT4:8:1152:35399:8959,LH00166:186:2372Y3LT4:8:1153:42421:23560,LH00166:186:2372Y3LT4:8:1153:42437:23560,LH00166:186:2372Y3LT4:8:1156:17285:14886,LH00166:186:2372Y3LT4:8:1163:13329:12658,LH00166:186:2372Y3LT4:8:1167:18960:28156,LH00166:186:2372Y3LT4:8:1169:34565:26320,LH00166:186:2372Y3LT4:8:1177:30448:24569,LH00166:186:2372Y3LT4:8:1178:23806:5834,LH00166:186:2372Y3LT4:8:1186:12852:19819,LH00166:186:2372Y3LT4:8:1188:24542:18459,LH00166:186:2372Y3LT4:8:1198:43173:15503,LH00166:186:2372Y3LT4:8:1205:39428:14928,LH00166:186:2372Y3LT4:8:1207:32155:15895,LH00166:186:2372Y3LT4:8:1209:16873:1869,LH00166:186:2372Y3LT4:8:1213:20214:28310,LH00166:186:2372Y3LT4:8:1221:12229:27679,LH00166:186:2372Y3LT4:8:1223:5498:18039,LH00166:186:2372Y3LT4:8:1227:6226:13975,LH00166:186:2372Y3LT4:8:1238:15327:3704,LH00166:186:2372Y3LT4:8:1239:25480:7109,LH00166:186:2372Y3LT4:8:1245:27899:6731,LH00166:186:2372Y3LT4:8:1253:38869:17520,LH00166:186:2372Y3LT4:8:1261:14559:7810,LH00166:186:2372Y3LT4:8:1263:23676:29207,LH00166:186:2372Y3LT4:8:1279:3451:29543,LH00166:186:2372Y3LT4:8:1286:43804:19847,LH00166:186:2372Y3LT4:8:1291:34638:21934,LH00166:186:2372Y3LT4:8:1302:42558:13625,LH00166:186:2372Y3LT4:8:1303:38934:19370,LH00166:186:2372Y3LT4:8:1305:34080:8300,LH00166:186:2372Y3LT4:8:1312:15619:1434,LH00166:186:2372Y3LT4:8:1314:28983:12840,LH00166:186:2372Y3LT4:8:1315:11379:19987,LH00166:186:2372Y3LT4:8:1328:10716:20631,LH00166:186:2372Y3LT4:8:1329:28506:4755,LH00166:186:2372Y3LT4:8:1335:14802:4279,LH00166:186:2372Y3LT4:8:1337:17067:25185,LH00166:186:2372Y3LT4:8:1338:28271:23602,LH00166:186:2372Y3LT4:8:1342:24453:21892,LH00166:186:2372Y3LT4:8:1343:21718:3844,LH00166:186:2372Y3LT4:8:1352:7618:7390,LH00166:186:2372Y3LT4:8:1353:32664:2037,LH00166:186:2372Y3LT4:8:1366:35836:18627,LH00166:186:2372Y3LT4:8:1367:28247:21878,LH00166:186:2372Y3LT4:8:1373:16800:25928,LH00166:186:2372Y3LT4:8:1384:38691:18305,LH00166:186:2372Y3LT4:8:1389:40754:14200,LH00166:186:2372Y3LT4:8:1391:26896:13709,LH00166:186:2372Y3LT4:8:1393:48593:6815,LH00166:186:2372Y3LT4:8:1403:41013:4783,LH00166:186:2372Y3LT4:8:1405:35763:22201,LH00166:186:2372Y3LT4:8:1408:28830:8651,LH00166:186:2372Y3LT4:8:1414:37243:6269,LH00166:186:2372Y3LT4:8:1419:23539:24737,LH00166:186:2372Y3LT4:8:1419:5183:15895,LH00166:186:2372Y3LT4:8:1425:14332:3971,LH00166:186:2372Y3LT4:8:1438:26742:7754,LH00166:186:2372Y3LT4:8:1441:36062:12378,LH00166:186:2372Y3LT4:8:1444:18952:5722,LH00166:186:2372Y3LT4:8:1450:51312:13401,LH00166:186:2372Y3LT4:8:1472:6962:14186,LH00166:186:2372Y3LT4:8:1472:6970:14200,LH00166:186:2372Y3LT4:8:1473:32211:11173,LH00166:186:2372Y3LT4:8:1487:5951:11005,LH00166:186:2372Y3LT4:8:1487:5959:10991,LH00166:186:2372Y3LT4:8:1495:44144:21612,LH00166:186:2372Y3LT4:8:1496:20723:2457,LH00166:186:2372Y3LT4:8:2101:31766:7376,LH00166:186:2372Y3LT4:8:2103:25286:13611,LH00166:186:2372Y3LT4:8:2105:38319:25564,LH00166:186:2372Y3LT4:8:2107:48092:8581,LH00166:186:2372Y3LT4:8:2113:14793:10711,LH00166:186:2372Y3LT4:8:2123:38829:17058,LH00166:186:2372Y3LT4:8:2130:10304:12770,LH00166:186:2372Y3LT4:8:2138:4341:21640,LH00166:186:2372Y3LT4:8:2148:22972:16974,LH00166:186:2372Y3LT4:8:2157:8354:15335,LH00166:186:2372Y3LT4:8:2162:42178:25437,LH00166:186:2372Y3LT4:8:2166:8742:24919,LH00166:186:2372Y3LT4:8:2167:44322:2808,LH00166:186:2372Y3LT4:8:2169:48545:5638,LH00166:186:2372Y3LT4:8:2171:27058:23854,LH00166:186:2372Y3LT4:8:2175:38481:2135,LH00166:186:2372Y3LT4:8:2180:10069:16652,LH00166:186:2372Y3LT4:8:2180:37882:6507,LH00166:186:2372Y3LT4:8:2181:15271:12854,LH00166:186:2372Y3LT4:8:2182:17487:7866,LH00166:186:2372Y3LT4:8:2184:23506:22999,LH00166:186:2372Y3LT4:8:2185:10805:19664,LH00166:186:2372Y3LT4:8:2185:11598:13891,LH00166:186:2372Y3LT4:8:2188:32502:24961,LH00166:186:2372Y3LT4:8:2190:32632:1673,LH00166:186:2372Y3LT4:8:2194:34428:17310,LH00166:186:2372Y3LT4:8:2201:20537:4377,LH00166:186:2372Y3LT4:8:2225:22066:26614,LH00166:186:2372Y3LT4:8:2232:34266:28408,LH00166:186:2372Y3LT4:8:2235:30715:1855,LH00166:186:2372Y3LT4:8:2240:6461:26628,LH00166:186:2372Y3LT4:8:2255:37551:15096,LH00166:186:2372Y3LT4:8:2258:32284:1575,LH00166:186:2372Y3LT4:8:2275:12933:12196,LH00166:186:2372Y3LT4:8:2286:44063:5918,LH00166:186:2372Y3LT4:8:2293:13871:19482,LH00166:186:2372Y3LT4:8:2309:30957:27245,LH00166:186:2372Y3LT4:8:2310:24768:21262,LH00166:186:2372Y3LT4:8:2316:30084:21080,LH00166:186:2372Y3LT4:8:2324:46191:1420,LH00166:186:2372Y3LT4:8:2327:32130:1673,LH00166:186:2372Y3LT4:8:2332:19267:26558,LH00166:186:2372Y3LT4:8:2340:47938:6521,LH00166:186:2372Y3LT4:8:2342:23595:19566,LH00166:186:2372Y3LT4:8:2345:1348:10234,LH00166:186:2372Y3LT4:8:2356:23207:2639,LH00166:186:2372Y3LT4:8:2364:39848:4643,LH00166:186:2372Y3LT4:8:2365:3435:8104,LH00166:186:2372Y3LT4:8:2375:33117:9463,LH00166:186:2372Y3LT4:8:2382:22034:6969,LH00166:186:2372Y3LT4:8:2383:2497:18529,LH00166:186:2372Y3LT4:8:2386:49912:8847,LH00166:186:2372Y3LT4:8:2397:41207:17759,LH00166:186:2372Y3LT4:8:2414:3055:21178,LH00166:186:2372Y3LT4:8:2416:40536:10234,LH00166:186:2372Y3LT4:8:2423:22333:11579,LH00166:186:2372Y3LT4:8:2424:21581:18459,LH00166:186:2372Y3LT4:8:2426:44006:23784,LH00166:186:2372Y3LT4:8:2435:17673:5918,LH00166:186:2372Y3LT4:8:2436:11121:8777,LH00166:186:2372Y3LT4:8:2437:7723:9926,LH00166:186:2372Y3LT4:8:2442:51773:15853,LH00166:186:2372Y3LT4:8:2445:36920:5176,LH00166:186:2372Y3LT4:8:2448:16088:9169,LH00166:186:2372Y3LT4:8:2454:12981:2527,LH00166:186:2372Y3LT4:8:2467:39735:20982,LH00166:186:2372Y3LT4:8:2470:4641:11285,LH00166:186:2372Y3LT4:8:2473:21896:28422,LH00166:186:2372Y3LT4:8:2483:29121:15236,LH00166:186:2372Y3LT4:8:2485:44484:27918,LH00166:186:2372Y3LT4:8:2486:45010:7165,LH00166:186:2372Y3LT4:8:2486:45026:7165,LH00166:186:2372Y3LT4:8:2493:27195:4699,LH00166:186:2372Y3LT4:8:2495:11776:22523,LH00166:186:2372Y3LT4:8:2497:30164:26657 out-of-frame . CDS/splice-site intron 117 45 -/- -/+ . 162 ENST00000539652 . translocation/5'-5' 0.0023619186046511626 0.25862068965517243 0.1304913041299118 659_cX2 Arriba
fp_audit 659_cX2 fusion AC109136--ROS1 AC109136--ROS1 AC109136--ROS1 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr16 chr6 AC109136 ROS1 55102187 117329446 chr16:55102187-chr6:117329446 -,- Arriba 1 3 29 32 PASS AC109136--ROS1 AC109136--ROS1 confidence:high;duplicates(13) high translocation intergenic CDS/splice-site 13 265 13.0 0.0 0.0 0.0 6 23 duplicates(13) PASS False chr16:55102187 chr6:117329446 chr16:55102187-chr6:117329446 . . high 13 265 upstream downstream 3 duplicates(13) CATCCTTAGCACGTTGACTTTGGACCACATGTTTTTGCCTCCTGGTCCCAAAATGGCTGCTGGCTCTCCAGTCTTCACATCTGAATCCAATGCAGAAAAAAAGAGGATCAAGGCAAAAGCTTTGTCTTAAGGAGATTTCATCTTTGTACTGGTTAAG|CTGGAGTCCCAAATAAACCAGGCATTCCCAAATTACTAGAAGGGAGTAAAAATTCAATACAGTGGGAGAAAGCTGAAGATAATGGATGTAGAATTACATACTATATCCTTGAGATAAG___AAAGAGCACTTCAAATAATTTACAGAACCAGAA AC109136.1(52869),AC109462.1(157782) ROS1 . ENSG00000047936 . LH00166:186:2372Y3LT4:8:1141:6898:12700,LH00166:186:2372Y3LT4:8:1144:15853:3214,LH00166:186:2372Y3LT4:8:1182:12221:27609,LH00166:186:2372Y3LT4:8:1184:13984:10767,LH00166:186:2372Y3LT4:8:1184:14001:10767,LH00166:186:2372Y3LT4:8:1198:26006:28002,LH00166:186:2372Y3LT4:8:1198:34088:14228,LH00166:186:2372Y3LT4:8:1265:32049:11817,LH00166:186:2372Y3LT4:8:1295:45535:8721,LH00166:186:2372Y3LT4:8:1328:3848:19804,LH00166:186:2372Y3LT4:8:1355:45649:4741,LH00166:186:2372Y3LT4:8:1373:14802:25185,LH00166:186:2372Y3LT4:8:1382:1129:17983,LH00166:186:2372Y3LT4:8:1404:46506:3760,LH00166:186:2372Y3LT4:8:1412:50017:18165,LH00166:186:2372Y3LT4:8:1455:43537:16638,LH00166:186:2372Y3LT4:8:1455:43545:16624,LH00166:186:2372Y3LT4:8:2130:18758:28646,LH00166:186:2372Y3LT4:8:2189:18224:6647,LH00166:186:2372Y3LT4:8:2215:23976:20253,LH00166:186:2372Y3LT4:8:2237:25197:17296,LH00166:186:2372Y3LT4:8:2237:25205:17310,LH00166:186:2372Y3LT4:8:2241:22746:17030,LH00166:186:2372Y3LT4:8:2270:27721:13121,LH00166:186:2372Y3LT4:8:2279:10619:19006,LH00166:186:2372Y3LT4:8:2340:27624:7404,LH00166:186:2372Y3LT4:8:2347:36766:18445,LH00166:186:2372Y3LT4:8:2348:29550:8216,LH00166:186:2372Y3LT4:8:2374:42170:29291,LH00166:186:2372Y3LT4:8:2408:11881:8441,LH00166:186:2372Y3LT4:8:2416:10910:25311,LH00166:186:2372Y3LT4:8:2432:11299:25956,LH00166:186:2372Y3LT4:8:2486:31580:19804,LH00166:186:2372Y3LT4:8:2489:13904:19790,LH00166:186:2372Y3LT4:8:1237:31329:27581,LH00166:186:2372Y3LT4:8:1402:31459:27525,LH00166:186:2372Y3LT4:8:1471:51029:28548,LH00166:186:2372Y3LT4:8:2164:32591:7796,LH00166:186:2372Y3LT4:8:2365:38125:12000,LH00166:186:2372Y3LT4:8:2447:38594:5526,LH00166:186:2372Y3LT4:8:1282:45252:28744,LH00166:186:2372Y3LT4:8:1283:40398:5204,LH00166:186:2372Y3LT4:8:2382:38441:24485,LH00166:186:2372Y3LT4:8:2382:38449:24499,LH00166:186:2372Y3LT4:8:2487:40293:10711 . |Protein_kinase_domain(100%) intergenic CDS/splice-site 6 23 ./- -/- . 32 . ENST00000368507 translocation 0.36585365853658536 0.0846286701208981 0.22524116432874172 659_cX2 Arriba
fp_audit 659_cX2 fusion BRAF--HERC2P10 HERC2P10--BRAF BRAF--HERC2P10 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr15 chr7 HERC2P10 BRAF 30836910 140927071 chr15:30836910-chr7:140927071 +,+ Arriba 1 0 5 5 PASS HERC2P10--BRAF BRAF--HERC2P10 confidence:high;duplicates(1) high translocation exon/splice-site intergenic 194 1 1.0 0.0 0.0 0.0 4 1 duplicates(1) FAIL False chr15:30836910 chr7:140927071 chr15:30836910-chr7:140927071 . . high 194 1 downstream upstream 0 total_reads_below_min(5.0<8.0) duplicates(1) GTGGCAAACAGCTGCTCCACAGCCCATTCTTTAAG___GTACTGGTAGCTCTTGCTTGTGACCTGGAGCTGGACACTCTGCCTTGCTGTGCCaAGACGCACAAGTGGGCCTGGTTCCaGAGGTACTGCATGGCCTCCCGCATTGCTGTGGCCCTTGACAAAAGAACACCATTGCCCCGTCTGTTTCTTGATGAG|GCCATTCTAAAGTCCTACAGTATCCAGATGAGAAACGAGAGAAAGCATAAGCTTTGGAGTCCAAAGATCAGGATTTTAGCGTCAGCACTCCACACCTTAGCTATACAATCTCAAAGCAG___CCTGCACCTGTGGCCTCATGGCGCATTCTCTACAATCAGTTGACAGAGG HERC2P10 BRAF(2142),AC006006.1(7796) ENSG00000259845 . . LH00166:186:2372Y3LT4:8:1419:2642:25395,LH00166:186:2372Y3LT4:8:1344:50584:22257,LH00166:186:2372Y3LT4:8:1364:7237:8188,LH00166:186:2372Y3LT4:8:2133:31823:8314,LH00166:186:2372Y3LT4:8:2211:50333:4307,LH00166:186:2372Y3LT4:8:2305:29372:17520 . . exon/splice-site intergenic 4 1 +/+ ./+ . 5 ENST00000570209 . translocation 0.020202020202020204 0.5 0.2601010101010101 659_cX2 Arriba
fp_audit 659_cX2 fusion BRAF--HERC2P10 HERC2P10--BRAF BRAF--HERC2P10 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr15 chr7 HERC2P10 BRAF 30836910 140903313 chr15:30836910-chr7:140903313 +,+ Arriba 1 1 2 3 PASS HERC2P10--BRAF BRAF--HERC2P10 confidence:medium;duplicates(2) medium translocation/5'-5' exon/splice-site intron 194 4 2.0 0.0 0.0 0.0 2 0 duplicates(2) FAIL False chr15:30836910 chr7:140903313 chr15:30836910-chr7:140903313 . . medium 194 4 downstream upstream 1 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(2) CAAGAGCTTTG___AGTTTTACAGGTAGTGCTCTTGCTGCTTTGGTGAAAGGTCTTCCAGAAGCTTTGCAAAGGCAGTTTGAATATGAAGATCCTATTGTGAGGGGTGGCAAACAGCTGCTCCACAGCCCATTCTTTAAG___GTACTGGTAGCTCTTGCTTGTGACCTGGAGCTGGACACTCTGCCTTGCTGTGCCaAGACGCACAAGTGGGCCTGGTTCCaGAGGTACTGCATGGCCTCCCGCATTGCTGTGGCCCTTGACAAAAGAACACCATTGCCCCGTCTGTTTCTTGATGAG|GGCCTTTGGAATTCTGCAAAATTTACTGTCTGTGCTCTGTAAATGGAACAATGAAGCCTGGATGACAGCATATTCTTTTACAACATAGTTTGCTGAATATTTTAAGCCCACTGTTGAGACCCACCGCTCAGAAAAAAAGATTCCTTCTA HERC2P10 BRAF ENSG00000259845 ENSG00000157764 . LH00166:186:2372Y3LT4:8:1251:47882:15587,LH00166:186:2372Y3LT4:8:1332:9988:18585,LH00166:186:2372Y3LT4:8:2324:41604:12784,LH00166:186:2372Y3LT4:8:2324:41612:12770,LH00166:186:2372Y3LT4:8:2324:48213:24877 . . exon/splice-site intron 2 0 +/+ -/+ . 3 ENST00000570209 . translocation/5'-5' 0.01272264631043257 0.1111111111111111 0.06191687871077184 659_cX2 Arriba
fp_audit 659_cX2 fusion BRAF--HERC2P2 BRAF--HERC2P2 BRAF--HERC2P2 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr7 chr15 BRAF HERC2P2 140924566 22587344 chr7:140924566-chr15:22587344 -,+ Arriba 1 0 3 3 PASS out-of-frame BRAF--HERC2P2 BRAF--HERC2P2 confidence:medium;mismatches(1) medium translocation CDS/splice-site exon/splice-site 1966 198 0.0 1.0 0.0 0.0 1 2 False mismatches(1) FAIL False chr7:140924566 chr15:22587344 chr7:140924566-chr15:22587344 . . medium 1966 198 upstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) mismatches(1) CGCTGAGCGGTGGCGGTGGTGGCGGCGCGGAGCCGGGCCAGGCTCTGTTCAACGGGGACATGGAGCCCGAGGCCGGCGCCGGCGCCGGCGCCGCGGCCTCTTCGGCTGCGGACCCTGCCATTCCGGAGGAG|GCTTCAGCAGAAGAAACACTTCCTATAAATCTCGCCCAAACAGGAAAGGTAAGTGGCCTAAAATTTTTCTAGTATTTTCAAAATGACCCAGTTACAATAGGAAATTTCTTCTTGTACTATTGTCACTAATCCCG BRAF HERC2P2 ENSG00000157764 ENSG00000276550 LSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEE|asaeetlpinlaqtgkvsglkff* LH00166:186:2372Y3LT4:8:1144:15991:6703,LH00166:186:2372Y3LT4:8:2430:12941:19636,LH00166:186:2372Y3LT4:8:2295:38109:25367,LH00166:186:2372Y3LT4:8:2444:26540:25311 out-of-frame . CDS/splice-site exon/splice-site 1 2 -/- +/+ . 3 ENST00000644969 ENST00000614571 translocation 0.0005083884087442806 0.01 0.00525419420437214 659_cX2 Arriba
fp_audit 659_cX2 fusion BRAF--TRBV10-2 BRAF--TRBV10-2 BRAF--TRBV10-2 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr7 chr7 BRAF TRBV10-2 140924566 142427136 chr7:140924566-chr7:142427136 -,- Arriba 1 0 4 4 PASS out-of-frame BRAF--TRBV10-2 BRAF--TRBV10-2 confidence:medium medium duplication CDS/splice-site intergenic 1966 1 3 1 False FAIL False chr7:140924566 chr7:142427136 chr7:140924566-chr7:142427136 . . medium 1966 1 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(4.0<8.0) . GGTGGCGGCGCGGAGCCGGGCCAGGCTCTGTTCAACGGGGACATGGAGCCCGAGGCCGGCGCCGGCGCCGGCGCCGCGGCCTCTTCGGCTGCGGACCCTGCCATTCCGGAGGAG|AACCTGGTGACATGCTCCCAGCCCTCCAAGTGCAAATGAGGCCAGGAAGCATAGAGGAGCCATGGGT BRAF TRBV10-2(1671),TRBV11-2(6759) ENSG00000157764 . GGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEE|nlvtcsqpskck* LH00166:186:2372Y3LT4:8:1189:2901:29067,LH00166:186:2372Y3LT4:8:1295:14688:13667,LH00166:186:2372Y3LT4:8:1379:29121:26054,LH00166:186:2372Y3LT4:8:1218:10457:15895 out-of-frame . CDS/splice-site intergenic 3 1 -/- ./- . 4 ENST00000644969 . duplication 0.0015236160487557136 0.5 0.25076180802437786 659_cX2 Arriba
fp_audit 659_cX2 fusion BRAF--TRBV12-1 BRAF--TRBV12-1 BRAF--TRBV12-1 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr7 chr7 BRAF TRBV12-1 140924566 142424555 chr7:140924566-chr7:142424555 -,- Arriba 1 0 17 17 PASS out-of-frame BRAF--TRBV12-1 BRAF--TRBV12-1 confidence:high;duplicates(4),mismatches(2) high duplication CDS/splice-site intergenic 1966 6 4.0 2.0 0.0 0.0 14 3 False duplicates(4),mismatches(2) PASS False chr7:140924566 chr7:142424555 chr7:140924566-chr7:142424555 . . high 1966 6 upstream downstream 0 duplicates(4),mismatches(2) GACAGCGGCCGCTCGGGCCCCGGCTCTCGGTTATAAGATGGCGGCGCTGAGCGGTGGCGGTGGTGGCGGCGCGGAGCCGGGCCAGGCTCTGTTCAACGGGGACATGGAGCCCGAGGCCGGCGCCGGCGCCGGCGCCGCGGCCTCTTCGGCTGCGGACCCTGCCATTCCGGAGGAG|CCTACAGAGATACCCTTGGTTAAAAGAGTCAACTGACATCCAGAAAGGTTTCAAAGTTGTGGATTCAAGGTCTTTAACATTTGAAGTCTTGTTTCACACTGTAGCACCTCATTGCaCCT BRAF TRBV12-1(8889),TRBV10-2(410) ENSG00000157764 . MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEE|pteiplvkrvn* LH00166:186:2372Y3LT4:8:1141:18936:10514,LH00166:186:2372Y3LT4:8:1159:51918:21822,LH00166:186:2372Y3LT4:8:1208:27147:2597,LH00166:186:2372Y3LT4:8:1236:24728:2275,LH00166:186:2372Y3LT4:8:1294:25917:25858,LH00166:186:2372Y3LT4:8:1355:15934:2653,LH00166:186:2372Y3LT4:8:1445:21338:24092,LH00166:186:2372Y3LT4:8:1486:11258:23588,LH00166:186:2372Y3LT4:8:2143:15586:10851,LH00166:186:2372Y3LT4:8:2161:35585:17913,LH00166:186:2372Y3LT4:8:2221:4479:17927,LH00166:186:2372Y3LT4:8:2243:41126:9996,LH00166:186:2372Y3LT4:8:2253:1267:8272,LH00166:186:2372Y3LT4:8:2258:43108:21696,LH00166:186:2372Y3LT4:8:2345:47817:7796,LH00166:186:2372Y3LT4:8:2361:8815:20673,LH00166:186:2372Y3LT4:8:2370:19510:10725,LH00166:186:2372Y3LT4:8:2382:28635:17506,LH00166:186:2372Y3LT4:8:2413:47922:3382,LH00166:186:2372Y3LT4:8:1247:41757:5960,LH00166:186:2372Y3LT4:8:1270:11978:13485,LH00166:186:2372Y3LT4:8:2455:23070:12154,LH00166:186:2372Y3LT4:8:2458:49580:4153 out-of-frame . CDS/splice-site intergenic 14 3 -/- ./- . 17 ENST00000644969 . duplication 0.007070707070707071 0.3333333333333333 0.1702020202020202 659_cX2 Arriba
fp_audit 659_cX2 fusion BRAF--TRBV7-1 BRAF--TRBV7-1 BRAF--TRBV7-1 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr7 chr7 BRAF TRBV7-1 140924566 142335396 chr7:140924566-chr7:142335396 -,- Arriba 1 0 35 35 PASS out-of-frame BRAF--TRBV7-1 BRAF--TRBV7-1 confidence:high;duplicates(6),mismappers(2),mismatches(4) high duplication CDS/splice-site intergenic 1966 16 6.0 4.0 2.0 0.0 25 10 False duplicates(6),mismappers(2),mismatches(4) PASS False chr7:140924566 chr7:142335396 chr7:140924566-chr7:142335396 . . high 1966 16 upstream downstream 0 duplicates(6),mismappers(2),mismatches(4) GGCCGCTCGGGCCCCGGCTCTCGGTTATAAGATGGCGGCGCTGAGCGGTGGCGGTGGTGGCGGCGCGGAGCCGGGCCAGGCTCTGTTCAACGGGGACATGGAGCCCGAGGCCGGCGCCGGCGCCGGCGCCGCGGCCTCTTCGGCTGCGGACCCTGCCATTCCGGAGGAG|AATGGCACCTGTGCCCCATACCCACTGGAGACTGTGGAAATCTGGAGGGAGCAACCTTGGTGATTCTGCCCCAAGAGAAGGGATTCTCTGGAGCTCTGGACAACATCCTGGGACTAAGATGGA BRAF TRBV7-1(2695),TRBV4-2(10025) ENSG00000157764 . MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEE|ngtcapypletveiwreqpw* LH00166:186:2372Y3LT4:8:1126:31160:8258,LH00166:186:2372Y3LT4:8:1143:40479:8959,LH00166:186:2372Y3LT4:8:1145:8378:25493,LH00166:186:2372Y3LT4:8:1240:32931:27105,LH00166:186:2372Y3LT4:8:1268:8613:25479,LH00166:186:2372Y3LT4:8:1280:13159:18221,LH00166:186:2372Y3LT4:8:1280:37785:8104,LH00166:186:2372Y3LT4:8:1301:41329:23294,LH00166:186:2372Y3LT4:8:1315:30747:2079,LH00166:186:2372Y3LT4:8:1342:18571:7586,LH00166:186:2372Y3LT4:8:1428:13661:3144,LH00166:186:2372Y3LT4:8:1455:32009:28842,LH00166:186:2372Y3LT4:8:2108:27762:15909,LH00166:186:2372Y3LT4:8:2138:26686:29571,LH00166:186:2372Y3LT4:8:2176:39047:24415,LH00166:186:2372Y3LT4:8:2179:43424:27988,LH00166:186:2372Y3LT4:8:2196:13968:9309,LH00166:186:2372Y3LT4:8:2196:30124:10865,LH00166:186:2372Y3LT4:8:2197:50220:2149,LH00166:186:2372Y3LT4:8:2208:39007:18067,LH00166:186:2372Y3LT4:8:2218:11744:10640,LH00166:186:2372Y3LT4:8:2239:42089:8721,LH00166:186:2372Y3LT4:8:2280:36976:2051,LH00166:186:2372Y3LT4:8:2305:10926:20519,LH00166:186:2372Y3LT4:8:2305:32357:25578,LH00166:186:2372Y3LT4:8:2344:51999:13051,LH00166:186:2372Y3LT4:8:2356:37777:22691,LH00166:186:2372Y3LT4:8:2389:10166:22145,LH00166:186:2372Y3LT4:8:2389:10174:22159,LH00166:186:2372Y3LT4:8:2389:34290:11355,LH00166:186:2372Y3LT4:8:2422:45082:13149,LH00166:186:2372Y3LT4:8:2436:13887:23097,LH00166:186:2372Y3LT4:8:2447:6582:27567,LH00166:186:2372Y3LT4:8:2449:49152:5512,LH00166:186:2372Y3LT4:8:2487:42752:27834,LH00166:186:2372Y3LT4:8:1257:22293:4419,LH00166:186:2372Y3LT4:8:1354:25157:21570,LH00166:186:2372Y3LT4:8:1422:19122:4083,LH00166:186:2372Y3LT4:8:1461:24647:11860,LH00166:186:2372Y3LT4:8:1468:11695:6128,LH00166:186:2372Y3LT4:8:2160:20796:16820,LH00166:186:2372Y3LT4:8:2254:10465:7334,LH00166:186:2372Y3LT4:8:2266:17301:7376,LH00166:186:2372Y3LT4:8:2375:20068:29319,LH00166:186:2372Y3LT4:8:2376:15780:8861,LH00166:186:2372Y3LT4:8:2450:25747:18053,LH00166:186:2372Y3LT4:8:2453:29663:8300 out-of-frame . CDS/splice-site intergenic 25 10 -/- ./- . 35 ENST00000644969 . duplication 0.012556504269211451 0.38461538461538464 0.19858594444229805 659_cX2 Arriba
fp_audit 659_cX2 fusion BRAF--TRBV9 BRAF--TRBV9 BRAF--TRBV9 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr7 chr7 BRAF TRBV9 140924566 142399299 chr7:140924566-chr7:142399299 -,- Arriba 1 0 8 8 PASS out-of-frame BRAF--TRBV9 BRAF--TRBV9 confidence:medium;duplicates(6),mismatches(1) medium duplication CDS/splice-site intergenic 1966 3 6.0 1.0 0.0 0.0 6 2 False duplicates(6),mismatches(1) FAIL False chr7:140924566 chr7:142399299 chr7:140924566-chr7:142399299 . . medium 1966 3 upstream downstream 0 confidence_below_min(medium<high) duplicates(6),mismatches(1) GCTCTCGGTTATAAGATGGCGGCGCTGAGCGGTGGCGGTGGTGGCGGCGCGGAGCCGGGCCAGGCTCTGTTCAACGGGGACATGGAGCCCGAGGCCGGCGCCGGCGCCGGCGCCGCGGCCTCTTCGGCTGCGGACCCTGCCATTCCGGAGGAG|GTGAAGCCACAAACACTGCCCCATCTAAGTCCCCTGAGTGACTGTACTTCCTGTGAAGAAAAGAGGAGGCTCATTAGGAATATGGATGAAATGTTCACCAAGAACTACACCTACCTGGAGTCTCTAGGGTCACAGGAAAATCCTCTATTCCCA BRAF TRBV9(6887),TRBV10-1(561) ENSG00000157764 . MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEE|vkpqtlphlsplsdctsceekrrlirnmdemftknytyleslgsqenplf LH00166:186:2372Y3LT4:8:1119:38222:8581,LH00166:186:2372Y3LT4:8:1254:48771:5526,LH00166:186:2372Y3LT4:8:1255:30116:9674,LH00166:186:2372Y3LT4:8:1296:38845:27567,LH00166:186:2372Y3LT4:8:1331:18903:9449,LH00166:186:2372Y3LT4:8:2102:4770:9660,LH00166:186:2372Y3LT4:8:2128:6663:7446,LH00166:186:2372Y3LT4:8:2210:6922:11930,LH00166:186:2372Y3LT4:8:2285:17196:5820,LH00166:186:2372Y3LT4:8:2309:46312:13485,LH00166:186:2372Y3LT4:8:2321:39274:10234,LH00166:186:2372Y3LT4:8:2410:47461:12168,LH00166:186:2372Y3LT4:8:2464:22002:11369,LH00166:186:2372Y3LT4:8:1405:46490:3816,LH00166:186:2372Y3LT4:8:2423:14688:14536 out-of-frame . CDS/splice-site intergenic 6 2 -/- ./- . 8 ENST00000644969 . duplication 0.0030425963488843813 0.4 0.2015212981744422 659_cX2 Arriba
fp_audit 659_cX2 fusion ESR1--LINC02527 ESR1--LINC02527 ESR1--LINC02527 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr6 ESR1 LINC02527 152061124 111986594 chr6:152061124-chr6:111986594 +,- Arriba 1 8 17 25 PASS out-of-frame ESR1--LINC02527 ESR1--LINC02527 confidence:high;duplicates(18),low_entropy(1),mismappers(1) high inversion CDS/splice-site intergenic 912 3 18.0 0.0 1.0 0.0 14 3 False duplicates(18),low_entropy(1),mismappers(1) PASS False chr6:152061124 chr6:111986594 chr6:152061124-chr6:111986594 . . high 912 3 downstream downstream 8 duplicates(18),low_entropy(1),mismappers(1) GCTTTGTGGATTTGACCCTCCATGATCAGGTCCACCTTCTAGAATGTGCCTGGCTAGAGATCCTGATGATTGGTCTCGTCTGGCGCTCCATGGAGCACCCAGGGAAGCTACTGTTTGCTCCTAACTTGCTCTTGGACAG___GAACCAGGGAAAATGTGTAGAGGGCATGGTGGAGATCTTCGACATGCTGCTGGCTACATCATCTCGGTTCCGCATGATGAATCTGCAGGGAGAGGAGTTTGTGTGCCTCAAATCTATTATTTTGCTTAATTCTG|CTAACATAAGAAGTAAAATGATCATAACAGTCCCCTAAGGAAGAAAAATGTCCATCATTGTTTTGAACTGAAGAATCACACCCAGTGAAAAACACCAGGTTCAGGCTTTGGGTAACCTTGATGAAGAACCAGAACAAATCAATTTGGCTTTCAGCACATTAATAAAGTGGCAG ESR1 LINC02527(77174),CCN6(67481) ENSG00000091831 . FVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNS|anirskmiitvp* LH00166:186:2372Y3LT4:8:2225:42688:12504,LH00166:186:2372Y3LT4:8:2272:40220:22579,LH00166:186:2372Y3LT4:8:2492:5781:17380,LH00166:186:2372Y3LT4:8:1255:9907:25900,LH00166:186:2372Y3LT4:8:1255:9923:25900,LH00166:186:2372Y3LT4:8:1278:20958:9225,LH00166:186:2372Y3LT4:8:1288:27220:24555,LH00166:186:2372Y3LT4:8:1291:2424:17647,LH00166:186:2372Y3LT4:8:1402:30011:18039,LH00166:186:2372Y3LT4:8:1403:21799:24471,LH00166:186:2372Y3LT4:8:1430:17576:25143,LH00166:186:2372Y3LT4:8:1459:6517:25634,LH00166:186:2372Y3LT4:8:1492:8103:7754,LH00166:186:2372Y3LT4:8:2113:52072:4825,LH00166:186:2372Y3LT4:8:2135:36596:11341,LH00166:186:2372Y3LT4:8:2161:35569:25227,LH00166:186:2372Y3LT4:8:2161:35585:25227,LH00166:186:2372Y3LT4:8:2185:15675:10837,LH00166:186:2372Y3LT4:8:2236:24445:19412,LH00166:186:2372Y3LT4:8:2256:45948:13611,LH00166:186:2372Y3LT4:8:2281:46425:27609,LH00166:186:2372Y3LT4:8:2298:30545:9183,LH00166:186:2372Y3LT4:8:2351:17520:25325,LH00166:186:2372Y3LT4:8:2366:29663:5302,LH00166:186:2372Y3LT4:8:2366:29671:5288,LH00166:186:2372Y3LT4:8:2366:29679:5274,LH00166:186:2372Y3LT4:8:2367:47590:19762,LH00166:186:2372Y3LT4:8:2449:8564:4573,LH00166:186:2372Y3LT4:8:2475:16250:5666,LH00166:186:2372Y3LT4:8:2479:5037:9477,LH00166:186:2372Y3LT4:8:2479:5045:9463,LH00166:186:2372Y3LT4:8:1125:21363:26657,LH00166:186:2372Y3LT4:8:1176:22131:29669,LH00166:186:2372Y3LT4:8:1176:22139:29655,LH00166:186:2372Y3LT4:8:1416:6307:24008,LH00166:186:2372Y3LT4:8:2136:39371:8917,LH00166:186:2372Y3LT4:8:2137:21775:9351,LH00166:186:2372Y3LT4:8:2137:21791:9351,LH00166:186:2372Y3LT4:8:2250:3953:4293,LH00166:186:2372Y3LT4:8:2250:3961:4279,LH00166:186:2372Y3LT4:8:2250:3977:4279,LH00166:186:2372Y3LT4:8:2285:42283:15923,LH00166:186:2372Y3LT4:8:2398:42437:6829,LH00166:186:2372Y3LT4:8:2435:16088:21248,LH00166:186:2372Y3LT4:8:2435:16096:21234 out-of-frame Ligand-binding_domain_of_nuclear_hormone_receptor(69%),Oestrogen_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)| CDS/splice-site intergenic 14 3 +/+ ./- . 25 ENST00000440973 . inversion 0.01935483870967742 0.7 0.3596774193548387 659_cX2 Arriba
fp_audit 659_cX2 fusion ESR1--LINC02527 ESR1--LINC02527 ESR1--LINC02527 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr6 LINC02527 ESR1 111938630 152060991 chr6:111938630-chr6:152060991 -,+ Arriba 1 0 1 1 PASS LINC02527--ESR1 ESR1--LINC02527 confidence:low low inversion intergenic CDS/splice-site 1 1101 1 0 FAIL False chr6:111938630 chr6:152060991 chr6:111938630-chr6:152060991 . . low 1 1101 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GCACCGTCTTAGGAGCAGATTCTTCCAGCTCCAGTCGAGCCTTCAGATGACTGCAATCCTGGCCAACATGCTGACTGtAACCTCCTGAGAGATCCTGAACCAGAACCACCCAGCCCAGCTAAACTGCTCCTGGATTCCTGCTCTATAGAAACAGT|GAACCAGGGAAAATGTGTAGAGGGCATGGTGGAGATCTTCGACATGCTGCTGGCTACATCATCTCGGTTCCGCATGATGAATCTGCA LINC02527(29210),CCN6(115445) ESR1 . ENSG00000091831 . LH00166:186:2372Y3LT4:8:2112:26435:12630 . |Ligand-binding_domain_of_nuclear_hormone_receptor(67%),Oestrogen-type_nuclear_receptor_final_C-terminal_(100%),Oestrogen_receptor(0%) intergenic CDS/splice-site 1 0 ./- +/+ . 1 . ENST00000440973 inversion 0.5 0.0 0.25 659_cX2 Arriba
fp_audit 659_cX2 fusion ESR1--LINC02527 ESR1--LINC02527 ESR1--LINC02527 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr6 ESR1 LINC02527 152061124 111901850 chr6:152061124-chr6:111901850 +,- STAR-Fusion 1 0 2 0.0257 2 FAIL ESR1--LINC02527 ESR1--LINC02527 "[""INTRACHROMOSOMAL[chr6:39.75Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.6049 False False False GT AG 2 Read count too low: 2 < 8 0 . . . . 0.0257 FAIL . . . ESR1--LINC02527 2 LH00166:186:2372Y3LT4:8:2102:2327:11201,LH00166:186:2372Y3LT4:8:2483:23814:22579 YES_LDAS GT 1.6049 chr6:152061124:+ ESR1^ENSG00000091831.24 . . . AG 1.9656 chr6:111901850:- LINC02527^ENSG00000227012.3 0 . ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr6:39.75Mb]""]" False chr6:152061124-chr6:111901850 2.0 0.0 Read count too low: 2 < 8 2 659_cX2 STAR-Fusion
fp_audit 659_cX2 fusion IRAK3--ROS1 ROS1--IRAK3 IRAK3--ROS1 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr12 ROS1 IRAK3 117324332 66203711 chr6:117324332-chr12:66203711 -,+ Arriba 1 0 3 3 PASS in-frame ROS1--IRAK3 IRAK3--ROS1 confidence:low;duplicates(1) low translocation CDS/splice-site CDS/splice-site 63 14287 1.0 0.0 0.0 0.0 0 3 True duplicates(1) FAIL False chr6:117324332 chr12:66203711 chr6:117324332-chr12:66203711 . . low 63 14287 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(3.0<8.0) duplicates(1) GATGATTTTTGGATACCAGAAACAAGTTTCATACTTACTATTATAGTTGGAATATTTCTGGTTGTTACAATCCCACTGACCTTTG|CAGAGAGACTTTCAAGCAGCTGGCTGGATGTTCGTCATATTGAAAAGTATGTAGACCAAGGTAAAAGTGGAACAAGAGAATTACTTTGGTCCTGGGCACAGAAAAACAAGACCATCGGTGACCTTTTACAGGTCCTCCAGGAGATGGGACATCGTCGAGCTATTCATTTAATTACAAACTATG___GAGCAGTGTTGAGTCCTTCAGAGAAGAGTTATCAGGAAGGTGGATTTCCAAATATATTATTCAAG___GAAACAGCCAATGTCACCGTGGATAATGTTCTTATTCCTGAACATAATGAAAAAG___GAgTACTGCTTAAATCTTCCATCAGCTTTCAAAATATCATAGAAGGAACTAGAAATTTCCACAAAGACTTCCTAATTGGAGAAGGAGAGATTTTTGAG ROS1 IRAK3 ENSG00000047936 ENSG00000090376 DDFWIPETSFILTIIVGIFLVVTIPLTF|aERLSSSWLDVRHIEKYVDQGKSGTRELLWSWAQKNKTIGDLLQVLQEMGHRRAIHLITNYGAVLSPSEKSYQEGGFPNILFKETANVTVDNVLIPEHNEKGvLLKSSISFQNIIEGTRNFHKDFLIGEGEIF LH00166:186:2372Y3LT4:8:1110:28983:7432,LH00166:186:2372Y3LT4:8:1133:42186:9001,LH00166:186:2372Y3LT4:8:2283:26993:3508,LH00166:186:2372Y3LT4:8:2297:7650:3130 in-frame Fibronectin_type_III_domain(100%)|Death_domain(76%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 0 3 -/- +/+ . 3 ENST00000368507 ENST00000261233 translocation 0.0 0.0002099370188943317 0.00010496850944716585 659_cX2 Arriba
fp_audit 659_cX2 fusion IRAK3--ROS1 ROS1--IRAK3 IRAK3--ROS1 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr12 ROS1 IRAK3 117329329 66203711 chr6:117329329-chr12:66203711 -,+ Arriba 1 0 1 1 PASS out-of-frame ROS1--IRAK3 IRAK3--ROS1 confidence:low low translocation CDS/splice-site CDS/splice-site 267 14287 1 0 False FAIL False chr6:117329329 chr12:66203711 chr6:117329329-chr12:66203711 . . low 267 14287 upstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . CCAAATAAACCAGGCATTCCCAAATTACTAGAAGGGAGTAAAAATTCAATACAGTGGGAGAAAGCTGAAGATAATGGATGTAGAATTACATACTATATCCTTGAGATAAG|CAGAGAGACTTTCAAGCAGCTGGCTGGATGTTCGTCATATTGAAAAGTATGTAGACCAAGGTAAAAGTGGAACAAGAG ROS1 IRAK3 ENSG00000047936 ENSG00000090376 PNKPGIPKLLEGSKNSIQWEKAEDNGCRITYYILEIs|retfkqlagcssy* LH00166:186:2372Y3LT4:8:2311:20181:29179 out-of-frame Fibronectin_type_III_domain(100%)|Death_domain(76%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 -/- +/+ . 1 ENST00000368507 ENST00000261233 translocation 0.0037313432835820895 0.0 0.0018656716417910447 659_cX2 Arriba
fp_audit 659_cX2 fusion ROS1--TMBIM4 TMBIM4--ROS1 ROS1--TMBIM4 FP FP Arriba cgp_rna_exp0034 659_cX2 altera_exact 1023 clinical patient Sarcoma Sarcoma 62 unknown False 659_cX2_T1_TRNA_1 tRNA altera_exact ssf 356.00 89.69 False cgp_rna_exp0034_lib_s01 200.00 117.97 cgp_rna_exp0034 A01 False 659_cX2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_cX2_T1_TRNA_1_B2372Y3LT4_1 BND chr12 chr6 TMBIM4 ROS1 66169855 117329520 chr12:66169855-chr6:117329520 -,+ Arriba 1 3 206 209 PASS out-of-frame TMBIM4--ROS1 ROS1--TMBIM4 confidence:medium;duplicates(52),mismatches(7),multimappers(1) medium translocation/5'-5' CDS/splice-site intron 49419 129 52.0 7.0 0.0 1.0 161 45 False duplicates(52),mismatches(7),multimappers(1) FAIL False chr12:66169855 chr6:117329520 chr12:66169855-chr6:117329520 . . medium 49419 129 upstream upstream 3 confidence_below_min(medium<high) duplicates(52),mismatches(7),multimappers(1) GGCGGTTGCGGTTAGTGGACCGGGACCGGTAGGGGTGCTGTTGCCATCATGGCTGACCCCGACCCCCGGTACCCTCGCTCCTCGATCGAGGACGACTTCAACTATGGCAGCAGCGTGGCCTCCGCCACCGTGCACATCCGAATGG|AATATATTAAGAGGAAAGACAACATTAAAGAAATATTCAGAGGCGGGGCCAAGATGGCCGACTAGAAGCAACTCCGTTCAGAGGTTCCTATTGAAAAAAACCATAATAAGTGTGTGAGTCCTTCACCGGCA TMBIM4 ROS1 ENSG00000155957 ENSG00000047936 MADPDPRYPRSSIEDDFNYGSSVASATVHIRM|eyikrkdnikeifrggakmad* LH00166:186:2372Y3LT4:8:1168:14882:12938,LH00166:186:2372Y3LT4:8:1197:40641:20645,LH00166:186:2372Y3LT4:8:1198:43173:2331,LH00166:186:2372Y3LT4:8:1202:33295:15433,LH00166:186:2372Y3LT4:8:1247:40398:9576,LH00166:186:2372Y3LT4:8:1277:40050:6731,LH00166:186:2372Y3LT4:8:1279:48246:17535,LH00166:186:2372Y3LT4:8:1296:32098:25465,LH00166:186:2372Y3LT4:8:1298:6655:26012,LH00166:186:2372Y3LT4:8:1301:44055:18936,LH00166:186:2372Y3LT4:8:1310:7804:16007,LH00166:186:2372Y3LT4:8:1321:9276:15727,LH00166:186:2372Y3LT4:8:1350:25205:27315,LH00166:186:2372Y3LT4:8:1353:30650:21360,LH00166:186:2372Y3LT4:8:1355:41943:23209,LH00166:186:2372Y3LT4:8:1368:31030:11173,LH00166:186:2372Y3LT4:8:1369:42397:22285,LH00166:186:2372Y3LT4:8:1382:45624:8427,LH00166:186:2372Y3LT4:8:1394:35334:14368,LH00166:186:2372Y3LT4:8:1428:20092:19804,LH00166:186:2372Y3LT4:8:1457:35577:8230,LH00166:186:2372Y3LT4:8:1485:5903:2205,LH00166:186:2372Y3LT4:8:2138:41968:14872,LH00166:186:2372Y3LT4:8:2175:21233:13065,LH00166:186:2372Y3LT4:8:2177:33740:18669,LH00166:186:2372Y3LT4:8:2204:1235:17268,LH00166:186:2372Y3LT4:8:2251:18766:27399,LH00166:186:2372Y3LT4:8:2259:46846:29739,LH00166:186:2372Y3LT4:8:2259:46862:29739,LH00166:186:2372Y3LT4:8:2275:41620:9505,LH00166:186:2372Y3LT4:8:2279:2990:3578,LH00166:186:2372Y3LT4:8:2291:15659:2401,LH00166:186:2372Y3LT4:8:2291:46498:7530,LH00166:186:2372Y3LT4:8:2310:24979:20841,LH00166:186:2372Y3LT4:8:2312:42817:6114,LH00166:186:2372Y3LT4:8:2339:12277:22635,LH00166:186:2372Y3LT4:8:2349:45139:27679,LH00166:186:2372Y3LT4:8:2350:34865:7894,LH00166:186:2372Y3LT4:8:2377:42041:26208,LH00166:186:2372Y3LT4:8:2378:31111:24373,LH00166:186:2372Y3LT4:8:2398:5320:27483,LH00166:186:2372Y3LT4:8:2398:5328:27497,LH00166:186:2372Y3LT4:8:2405:43739:13765,LH00166:186:2372Y3LT4:8:2418:32721:8749,LH00166:186:2372Y3LT4:8:2440:32891:20897,LH00166:186:2372Y3LT4:8:2445:22778:11397,LH00166:186:2372Y3LT4:8:2476:8726:16624,LH00166:186:2372Y3LT4:8:2482:47315:3957,LH00166:186:2372Y3LT4:8:2487:33813:9744,LH00166:186:2372Y3LT4:8:1106:11671:10823,LH00166:186:2372Y3LT4:8:1106:18127:29627,LH00166:186:2372Y3LT4:8:1106:24623:23448,LH00166:186:2372Y3LT4:8:1106:24623:23448,LH00166:186:2372Y3LT4:8:1106:24631:23462,LH00166:186:2372Y3LT4:8:1106:24631:23462,LH00166:186:2372Y3LT4:8:1111:22584:20001,LH00166:186:2372Y3LT4:8:1111:26872:24036,LH00166:186:2372Y3LT4:8:1123:12747:13079,LH00166:186:2372Y3LT4:8:1123:12763:13079,LH00166:186:2372Y3LT4:8:1126:27988:20925,LH00166:186:2372Y3LT4:8:1128:32324:18151,LH00166:186:2372Y3LT4:8:1130:45115:15867,LH00166:186:2372Y3LT4:8:1130:7148:12070,LH00166:186:2372Y3LT4:8:1138:14980:29697,LH00166:186:2372Y3LT4:8:1138:4309:19875,LH00166:186:2372Y3LT4:8:1138:4317:19861,LH00166:186:2372Y3LT4:8:1147:38311:23027,LH00166:186:2372Y3LT4:8:1151:27980:13177,LH00166:186:2372Y3LT4:8:1152:35399:8959,LH00166:186:2372Y3LT4:8:1153:42421:23560,LH00166:186:2372Y3LT4:8:1153:42437:23560,LH00166:186:2372Y3LT4:8:1156:17285:14886,LH00166:186:2372Y3LT4:8:1158:31969:19468,LH00166:186:2372Y3LT4:8:1163:13329:12658,LH00166:186:2372Y3LT4:8:1164:26354:24793,LH00166:186:2372Y3LT4:8:1167:18960:28156,LH00166:186:2372Y3LT4:8:1169:26702:26993,LH00166:186:2372Y3LT4:8:1169:26710:26979,LH00166:186:2372Y3LT4:8:1169:34565:26320,LH00166:186:2372Y3LT4:8:1177:30448:24569,LH00166:186:2372Y3LT4:8:1178:23806:5834,LH00166:186:2372Y3LT4:8:1185:23070:13947,LH00166:186:2372Y3LT4:8:1186:12852:19819,LH00166:186:2372Y3LT4:8:1188:24542:18459,LH00166:186:2372Y3LT4:8:1198:43173:15503,LH00166:186:2372Y3LT4:8:1205:39428:14928,LH00166:186:2372Y3LT4:8:1207:32155:15895,LH00166:186:2372Y3LT4:8:1209:16873:1869,LH00166:186:2372Y3LT4:8:1213:20214:28310,LH00166:186:2372Y3LT4:8:1215:46603:18333,LH00166:186:2372Y3LT4:8:1221:12229:27679,LH00166:186:2372Y3LT4:8:1223:5498:18039,LH00166:186:2372Y3LT4:8:1227:6226:13975,LH00166:186:2372Y3LT4:8:1238:15327:3704,LH00166:186:2372Y3LT4:8:1239:25480:7109,LH00166:186:2372Y3LT4:8:1240:41992:1462,LH00166:186:2372Y3LT4:8:1245:27899:6731,LH00166:186:2372Y3LT4:8:1246:10401:6885,LH00166:186:2372Y3LT4:8:1253:38869:17520,LH00166:186:2372Y3LT4:8:1261:14559:7810,LH00166:186:2372Y3LT4:8:1263:23676:29207,LH00166:186:2372Y3LT4:8:1270:20537:25704,LH00166:186:2372Y3LT4:8:1274:13313:24905,LH00166:186:2372Y3LT4:8:1275:33789:22537,LH00166:186:2372Y3LT4:8:1279:3451:29543,LH00166:186:2372Y3LT4:8:1284:43578:22817,LH00166:186:2372Y3LT4:8:1286:43804:19847,LH00166:186:2372Y3LT4:8:1291:34638:21934,LH00166:186:2372Y3LT4:8:1293:17771:14522,LH00166:186:2372Y3LT4:8:1302:42558:13625,LH00166:186:2372Y3LT4:8:1303:38934:19370,LH00166:186:2372Y3LT4:8:1304:7051:28408,LH00166:186:2372Y3LT4:8:1305:34080:8300,LH00166:186:2372Y3LT4:8:1312:15619:1434,LH00166:186:2372Y3LT4:8:1314:28983:12840,LH00166:186:2372Y3LT4:8:1315:11379:19987,LH00166:186:2372Y3LT4:8:1328:10716:20631,LH00166:186:2372Y3LT4:8:1329:28506:4755,LH00166:186:2372Y3LT4:8:1335:14802:4279,LH00166:186:2372Y3LT4:8:1337:17067:25185,LH00166:186:2372Y3LT4:8:1338:28271:23602,LH00166:186:2372Y3LT4:8:1342:24453:21892,LH00166:186:2372Y3LT4:8:1343:21718:3844,LH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:51773:15853,LH00166:186:2372Y3LT4:8:2445:36920:5176,LH00166:186:2372Y3LT4:8:2445:51838:19048,LH00166:186:2372Y3LT4:8:2448:16088:9169,LH00166:186:2372Y3LT4:8:2449:17002:13527,LH00166:186:2372Y3LT4:8:2454:12981:2527,LH00166:186:2372Y3LT4:8:2457:22350:6002,LH00166:186:2372Y3LT4:8:2467:39735:20982,LH00166:186:2372Y3LT4:8:2470:18952:13373,LH00166:186:2372Y3LT4:8:2470:4641:11285,LH00166:186:2372Y3LT4:8:2473:21896:28422,LH00166:186:2372Y3LT4:8:2473:3872:1546,LH00166:186:2372Y3LT4:8:2478:21371:3830,LH00166:186:2372Y3LT4:8:2483:29121:15236,LH00166:186:2372Y3LT4:8:2485:44484:27918,LH00166:186:2372Y3LT4:8:2486:45010:7165,LH00166:186:2372Y3LT4:8:2486:45026:7165,LH00166:186:2372Y3LT4:8:2493:27195:4699,LH00166:186:2372Y3LT4:8:2495:11776:22523,LH00166:186:2372Y3LT4:8:2497:30164:26657,LH00166:186:2372Y3LT4:8:1196:29355:7039,LH00166:186:2372Y3LT4:8:2137:26508:8945,LH00166:186:2372Y3LT4:8:2446:32826:22775 out-of-frame Inhibitor_of_apoptosis-promoting_Bax1(0%)| CDS/splice-site intron 161 45 -/- -/+ . 209 ENST00000633367 . translocation/5'-5' 0.003277432106733358 0.26495726495726496 0.13411734853199916 659_cX2 Arriba
fp_audit 659_dDe fusion NOTCH2--RNU6-465P NOTCH2--RNU6-465P NOTCH2--RNU6-465P FP FP Arriba cgp_rna_exp0034 659_dDe altera_exact 1023 clinical patient Lung Lung 82 unknown False 659_dDe_T1_TRNA_1 tRNA altera_exact ssf 7.00 77.37 False cgp_rna_exp0034_lib_s16 200.00 46.69 cgp_rna_exp0034 H02 False 659_dDe_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_dDe_T1_TRNA_1_B2372Y3LT4_1 BND chr1 chr1 NOTCH2 RNU6-465P 119986960 120143105 chr1:119986960-chr1:120143105 -,- Arriba 1 8 146 154 PASS out-of-frame NOTCH2--RNU6-465P NOTCH2--RNU6-465P confidence:high;duplicates(337),mismatches(1) high duplication CDS/splice-site intergenic 10352 247 337.0 1.0 0.0 0.0 72 74 False duplicates(337),mismatches(1) PASS False chr1:119986960 chr1:120143105 chr1:119986960-chr1:120143105 . . high 10352 247 upstream downstream 8 duplicates(337),mismatches(1) CTGGTGACTTCACTTTTGAGTGCAACTGCCTTCCAG___GTTTTGAAGGGAGCACCTGTGAGAGGAATATTGATGACTGCCCTAACCACAGGTGTCAGAATGGAGGGGTTTGTGTGGATGGGGTCAACACTTACAACTGCCGCTGTCCCCCACAATGGACAG|ATGGATCCAGTTTGCATGCAGTGGTAGCTGCTGTGAGGCTGCGGTTAAATAGAGCTGCTCAGACTGCAACAGGAAAGCATTGAATCGAAAGCAAAGGGGAGGAAGCGCAAACCGATACCCACCACAAAGCTGCTGAGTGCCCA NOTCH2 RNU6-465P(16031),SEC22B(7793) ENSG00000134250 . GDFTFECNCLPGFEGSTCERNIDDCPNHRCQNGGVCVDGVNTYNCRCPPQWT|dgsslhavvaavrlrlnraaqtatgkh* 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11,LH00166:186:2372Y3LT4:8:2169:43950:16792,LH00166:186:2372Y3LT4:8:2173:31224:21458,LH00166:186:2372Y3LT4:8:2176:9729:18445,LH00166:186:2372Y3LT4:8:2178:47097:27960,LH00166:186:2372Y3LT4:8:2178:51037:15335,LH00166:186:2372Y3LT4:8:2185:47873:20001,LH00166:186:2372Y3LT4:8:2208:13159:9870,LH00166:186:2372Y3LT4:8:2215:12116:5848,LH00166:186:2372Y3LT4:8:2216:3872:18137,LH00166:186:2372Y3LT4:8:2218:13936:13653,LH00166:186:2372Y3LT4:8:2218:13944:13667,LH00166:186:2372Y3LT4:8:2221:50309:16400,LH00166:186:2372Y3LT4:8:2222:15991:16400,LH00166:186:2372Y3LT4:8:2225:20052:22088,LH00166:186:2372Y3LT4:8:2230:48472:29389,LH00166:186:2372Y3LT4:8:2231:13078:9421,LH00166:186:2372Y3LT4:8:2238:39872:15194,LH00166:186:2372Y3LT4:8:2239:23506:21402,LH00166:186:2372Y3LT4:8:2242:25909:23826,LH00166:186:2372Y3LT4:8:2243:16177:14816,LH00166:186:2372Y3LT4:8:2247:44783:6913,LH00166:186:2372Y3LT4:8:2251:31459:4629,LH00166:186:2372Y3LT4:8:2251:31467:4643,LH00166:186:2372Y3LT4:8:2251:31475:4657,LH00166:186:2372Y3LT4:8:2252:33967:2303,LH00166:186:2372Y3LT4:8:2253:6841:19776,LH00166:186:2372Y3LT4:8:2256:29105:28100,LH00166:186:2372Y3LT4:8:2258:16242:18768,LH00166:186:2372Y3LT4:8:2260:22576:18866,LH00166:186:2372Y3LT4:8:2274:41523:25900,LH00166:186:2372Y3LT4:8:2275:22835:16792,LH00166:186:2372Y3LT4:8:2276:22390:4167,LH00166:186:2372Y3LT4:8:2276:22406:4167,LH00166:186:2372Y3LT4:8:2277:41863:17240,LH00166:186:2372Y3LT4:8:2278:19089:14144,LH00166:186:2372Y3LT4:8:2278:21969:10444,LH00166:186:2372Y3LT4:8:2278:31200:11047,LH00166:186:2372Y3LT4:8:2280:37737:26769,LH00166:186:2372Y3LT4:8:2281:29647:1967,LH00166:186:2372Y3LT4:8:2287:20165:5750,LH00166:186:2372Y3LT4:8:2287:32009:9898,LH00166:186:2372Y3LT4:8:2287:46312:20351,LH00166:186:2372Y3LT4:8:2288:10271:4671,LH00166:186:2372Y3LT4:8:2290:30868:25073,LH00166:186:2372Y3LT4:8:2294:38772:2163,LH00166:186:2372Y3LT4:8:2298:24558:3102,LH00166:186:2372Y3LT4:8:2298:24566:3116,LH00166:186:2372Y3LT4:8:2311:43739:18585,LH00166:186:2372Y3LT4:8:2313:39169:19833,LH00166:186:2372Y3LT4:8:2314:43561:24611,LH00166:186:2372Y3LT4:8:2318:6582:6128,LH00166:186:2372Y3LT4:8:2321:45026:12434,LH00166:186:2372Y3LT4:8:2330:9681:15951,LH00166:186:2372Y3LT4:8:2334:29008:29641,LH00166:186:2372Y3LT4:8:2338:2011:24975,LH00166:186:2372Y3LT4:8:2346:28813:10360,LH00166:186:2372Y3LT4:8:2348:38206:10795,LH00166:186:2372Y3LT4:8:2358:38885:22145,LH00166:186:2372Y3LT4:8:2358:47825:6577,LH00166:186:2372Y3LT4:8:2361:33328:19468,LH00166:186:2372Y3LT4:8:2371:47064:22551,LH00166:186:2372Y3LT4:8:2373:41296:15419,LH00166:186:2372Y3LT4:8:2377:37898:20127,LH00166:186:2372Y3LT4:8:2382:12253:10150,LH00166:186:2372Y3LT4:8:2384:19041:11509,LH00166:186:2372Y3LT4:8:2386:13451:16035,LH00166:186:2372Y3LT4:8:2386:16209:29725,LH00166:186:2372Y3LT4:8:2390:5951:25746,LH00166:186:2372Y3LT4:8:2391:23029:9533,LH00166:186:2372Y3LT4:8:2402:35755:7614,LH00166:186:2372Y3LT4:8:2411:19898:20954,LH00166:186:2372Y3LT4:8:2412:3184:17310,LH00166:186:2372Y3LT4:8:2412:43481:11551,LH00166:186:2372Y3LT4:8:2413:48747:20617,LH00166:186:2372Y3LT4:8:2422:21597:7866,LH00166:186:2372Y3LT4:8:2425:33101:7782,LH00166:186:2372Y3LT4:8:2431:31855:22411,LH00166:186:2372Y3LT4:8:2442:2149:5680,LH00166:186:2372Y3LT4:8:2446:33481:15222,LH00166:186:2372Y3LT4:8:2447:38619:7278,LH00166:186:2372Y3LT4:8:2450:9486:14578,LH00166:186:2372Y3LT4:8:2451:35229:16512,LH00166:186:2372Y3LT4:8:2452:28765:26699,LH00166:186:2372Y3LT4:8:2454:30553:29011,LH00166:186:2372Y3LT4:8:2466:9236:13023,LH00166:186:2372Y3LT4:8:2471:18086:9015,LH00166:186:2372Y3LT4:8:2471:25132:28338,LH00166:186:2372Y3LT4:8:2473:51029:26138,LH00166:186:2372Y3LT4:8:2476:12520:10052,LH00166:186:2372Y3LT4:8:2480:37769:10430,LH00166:186:2372Y3LT4:8:2484:28182:17030,LH00166:186:2372Y3LT4:8:2487:41507:28786,LH00166:186:2372Y3LT4:8:2488:46547:28492,LH00166:186:2372Y3LT4:8:2495:26839:9576,LH00166:186:2372Y3LT4:8:2497:28053:21066,LH00166:186:2372Y3LT4:8:1103:16727:22831,LH00166:186:2372Y3LT4:8:1257:24963:29249,LH00166:186:2372Y3LT4:8:1342:27778:9323,LH00166:186:2372Y3LT4:8:1342:27786:9337,LH00166:186:2372Y3LT4:8:1349:24930:18263,LH00166:186:2372Y3LT4:8:1349:24946:18263,LH00166:186:2372Y3LT4:8:1355:9729:13037,LH00166:186:2372Y3LT4:8:1433:31855:20449,LH00166:186:2372Y3LT4:8:1468:27373:25381,LH00166:186:2372Y3LT4:8:1497:26928:23798,LH00166:186:2372Y3LT4:8:1497:26937:23812,LH00166:186:2372Y3LT4:8:2144:20214:5526,LH00166:186:2372Y3LT4:8:2235:2480:24162,LH00166:186:2372Y3LT4:8:2281:26484:11733,LH00166:186:2372Y3LT4:8:2297:33320:21752,LH00166:186:2372Y3LT4:8:2297:33328:21766,LH00166:186:2372Y3LT4:8:2325:20780:4433,LH00166:186:2372Y3LT4:8:2325:20788:4447,LH00166:186:2372Y3LT4:8:2342:48593:26853,LH00166:186:2372Y3LT4:8:2373:16711:21038,LH00166:186:2372Y3LT4:8:2405:42882:29347,LH00166:186:2372Y3LT4:8:2453:11897:10935,LH00166:186:2372Y3LT4:8:2456:42664:18936,LH00166:186:2372Y3LT4:8:2456:42672:18922,LH00166:186:2372Y3LT4:8:2459:20092:11173,LH00166:186:2372Y3LT4:8:2497:42615:6185,LH00166:186:2372Y3LT4:8:2497:42631:6185 out-of-frame Calcium-binding_EGF_domain(24%),EGF-like_domain(16%),Human_growth_factor-like_EGF(26%)| CDS/splice-site intergenic 72 74 -/- ./- . 154 ENST00000256646 . duplication 0.00728807057920982 0.24 0.12364403528960491 659_dDe Arriba
fp_audit 659_db9 fusion AL138733--ESR1 ESR1--AL138733 AL138733--ESR1 FP FP Arriba cgp_rna_exp0034 659_db9 altera_exact 1023 clinical patient Ovarian Ovarian 67 unknown False 659_db9_T1_TRNA_1 tRNA altera_exact ssf 16.5 79.94 False cgp_rna_exp0034_lib_s07 200.00 127.5 cgp_rna_exp0034 G01 False 659_db9_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_db9_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr6 ESR1 AL138733 152061124 151219552 chr6:152061124-chr6:151219552 +,+ Arriba 1 1 4 5 PASS out-of-frame ESR1--AL138733 AL138733--ESR1 confidence:medium;duplicates(6) medium duplication/5'-5' CDS/splice-site intron 23376 1 6.0 0.0 0.0 0.0 4 0 False duplicates(6) FAIL False chr6:152061124 chr6:151219552 chr6:152061124-chr6:151219552 . . medium 23376 1 downstream upstream 1 confidence_below_min(medium<high);total_reads_below_min(5.0<8.0) duplicates(6) GGGAGCTGGTTCACATGATCAACTGGGCGAAGAGGGTGCCAG___GCTTTGTGGATTTGACCCTCCATGATCAGGTCCACCTTCTAGAATGTGCCTGGCTAGAGATCCTGATGATTGGTCTCGTCTGGCGCTCCATGGAGCACCCAGGGAAGCTACTGTTTGCTCCTAACTTGCTCTTGGACAG___GAACCAGGGAAAATGTGTAGAGGGCATGGTGGAGATCTTCGACATGCTGCTGGCTACATCATCTCGGTTCCGCATGATGAATCTGCAGGGAGAGGAGTTTGTGTGCCTCAAATCTATTATTTTGCTTAATTCTG|ATCTGTCTTTTGTCTGTTTAACTCACAGACCTCAATAAAGG...___GGTCGGAAATGAAAGGATGCAAGCCACTTGTGCTGGTATTATTTAAAGTCTTCATCTTTTGAGAAAGGCTGAtGGCAAAGGAACAGATCTATGCTGTCATGTGTCGGCATCGCGC ESR1 AL138733.1 ENSG00000091831 ENSG00000223598 ELVHMINWAKRVPGFVDLTLHDQVHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKSIILLNS|dlsfvclthrpq* LH00166:186:2372Y3LT4:8:1108:1712:21878,LH00166:186:2372Y3LT4:8:1108:1728:21878,LH00166:186:2372Y3LT4:8:1194:42631:15489,LH00166:186:2372Y3LT4:8:1261:51134:12028,LH00166:186:2372Y3LT4:8:1261:51142:12014,LH00166:186:2372Y3LT4:8:1380:20384:11173,LH00166:186:2372Y3LT4:8:1455:43828:5148,LH00166:186:2372Y3LT4:8:2288:15821:19720,LH00166:186:2372Y3LT4:8:2324:4948:21654,LH00166:186:2372Y3LT4:8:2324:4956:21668,LH00166:186:2372Y3LT4:8:1417:33676:2976 out-of-frame Ligand-binding_domain_of_nuclear_hormone_receptor(69%),Oestrogen_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)| CDS/splice-site intron 4 0 +/+ -/+ . 5 ENST00000440973 . duplication/5'-5' 0.00019246808237633926 0.3333333333333333 0.16676290070785482 659_db9 Arriba
fp_audit 659_db9 fusion CHCHD2P8--FLT3 FLT3--CHCHD2P8 CHCHD2P8--FLT3 FP FP Arriba cgp_rna_exp0034 659_db9 altera_exact 1023 clinical patient Ovarian Ovarian 67 unknown False 659_db9_T1_TRNA_1 tRNA altera_exact ssf 16.5 79.94 False cgp_rna_exp0034_lib_s07 200.00 127.5 cgp_rna_exp0034 G01 False 659_db9_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_db9_T1_TRNA_1_B2372Y3LT4_1 BND chr13 chr13 FLT3 CHCHD2P8 28070491 28107891 chr13:28070491-chr13:28107891 -,- Arriba 1 0 3 3 PASS out-of-frame FLT3--CHCHD2P8 CHCHD2P8--FLT3 confidence:low low duplication/5'-5' CDS/splice-site intergenic 72 23 1 2 False FAIL False chr13:28070491 chr13:28107891 chr13:28070491-chr13:28107891 . . low 72 23 upstream downstream 0 confidence_below_min(low<high);total_reads_below_min(3.0<8.0) . TTTTCTGCAATGATATTTGGGACTATTACAAATCAAGATCTGCCTGTGATCAAGTGTGTTTTAATCAATCATAAGAACAATGATTCATCAGTGGGGAAGTCATCATCATATCCCATG|GTTGAACTTCTTGATCAGGCCAATCGTTTTGCCAGTCGGCACTGTTTCAGCACCTCATTGAAACCCTCACAGAGCTTGATGTCACCATGGTTCTGGGCACACTCCAGAAACTGTTCGATCTCATAGAAGCAAGGCTGCTGCTGCTGTGCCAGCTGGGTTCCCTGAGGCTCCTGG FLT3 CHCHD2P8 ENSG00000122025 ENSG00000235115 FSAMIFGTITNQDLPVIKCVLINHKNNDSSVGKSSSYPM|velldqanrfasrhcfstslkpsqslmspwfwahsrncsis* LH00166:186:2372Y3LT4:8:1235:44670:1757,LH00166:186:2372Y3LT4:8:2311:47170:18838,LH00166:186:2372Y3LT4:8:2394:35860:21220 out-of-frame . CDS/splice-site intergenic 1 2 -/- +/- . 3 ENST00000241453 . duplication/5'-5' 0.0136986301369863 0.08 0.04684931506849315 659_db9 Arriba
fp_audit 659_db9 fusion CSF1R--CSNK1A1 CSNK1A1--CSF1R CSF1R--CSNK1A1 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_db9 altera_exact 1023 clinical patient Ovarian Ovarian 67 unknown False 659_db9_T1_TRNA_1 tRNA altera_exact ssf 16.5 79.94 False cgp_rna_exp0034_lib_s07 200.00 127.5 cgp_rna_exp0034 G01 False 659_db9_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_db9_T1_TRNA_1_B2372Y3LT4_1 BND chr5 chr5 CSNK1A1 CSF1R 149520290 150068330 chr5:149520290-chr5:150068330 -,- Arriba 1 7 78 85 PASS out-of-frame CSNK1A1--CSF1R CSF1R--CSNK1A1 confidence:high;duplicates(52),mismatches(5) high duplication CDS/splice-site CDS/splice-site 3746 829 52.0 5.0 0.0 0.0 42 36 False duplicates(52),mismatches(5) PASS False chr5:149520290 chr5:150068330 chr5:149520290-chr5:150068330 . . high 3746 829 upstream downstream 7 duplicates(52),mismatches(5) CTGTACGAGAGCAAGCTCTATAAGATTCTTCAAGGTGGGGTTGGCATCCCCCACATACG___GTGGTATGGTCAGGAAAAAGACTACAATGTACTAGTCATGGATCTTCTGGGACCTAGCCTCGAAGACCTCTTCAATTTCTGTTCAAGAAGGTTCACAATGAAAACTGTACTTATGTTAGCTGACCAG___ATGATCAGTAGAATTGAATATGTGCATACAAAGAATTTTATACACAGAGACATTAAACCAGATAACTTCCTAATGGGTATTGGGCGTCACTGTAATAAG|GAGCCCACACGCATCCCCCGGATGAGTTCCTCTTCACACCAGTGGTGGTCGCCTGCATGTCCATCATGGCCTTGCTGCTGCTGCTGCTCCTGCTGCTATTGTACAAGTATAAGCAG___AAGCCCAAGTACCAGGTCCGCTGGAAGATCATCGAGAGCTATGAGGGCAACAGTTATACTTTCATCGACCCCACGCAGCTGCCT CSNK1A1 CSF1R ENSG00000113712 ENSG00000182578 LYESKLYKILQGGVGIPHIRWYGQEKDYNVLVMDLLGPSLEDLFNFCSRRFTMKTVLMLADQMISRIEYVHTKNFIHRDIKPDNFLMGIGRHCNK|eptriprmsssshqwwspacpswpcccccsccyctsisrspstrsagrssramratvilsstprsc LH00166:186:2372Y3LT4:8:1117:48189:13429,LH00166:186:2372Y3LT4:8:1141:39670:14284,LH00166:186:2372Y3LT4:8:1141:39686:14284,LH00166:186:2372Y3LT4:8:1143:21832:13373,LH00166:186:2372Y3LT4:8:1155:44702:12995,LH00166:186:2372Y3LT4:8:1155:44710:12981,LH00166:186:2372Y3LT4:8:1156:17277:1168,LH00166:186:2372Y3LT4:8:1170:20367:27371,LH00166:186:2372Y3LT4:8:1170:47898:16259,LH00166:186:2372Y3LT4:8:1228:20473:11944,LH00166:186:2372Y3LT4:8:1228:20481:11930,LH00166:186:2372Y3LT4:8:1229:9187:15208,LH00166:186:2372Y3LT4:8:1246:29533:29263,LH00166:186:2372Y3LT4:8:1253:35771:24316,LH00166:186:2372Y3LT4:8:1279:31871:9239,LH00166:186:2372Y3LT4:8:1279:31888:9239,LH00166:186:2372Y3LT4:8:1297:35593:15265,LH00166:186:2372Y3LT4:8:1312:35641:14816,LH00166:186:2372Y3LT4:8:1319:43723:28534,LH00166:186:2372Y3LT4:8:1319:43731:28548,LH00166:186:2372Y3LT4:8:1319:43739:28534,LH00166:186:2372Y3LT4:8:1319:43739:28562,LH00166:186:2372Y3LT4:8:1331:31774:23055,LH00166:186:2372Y3LT4:8:1334:4333:22243,LH00166:186:2372Y3LT4:8:1343:16889:22663,LH00166:186:2372Y3LT4:8:1343:16905:22663,LH00166:186:2372Y3LT4:8:1359:16282:24387,LH00166:186:2372Y3LT4:8:1365:29412:5960,LH00166:186:2372Y3LT4:8:1379:26613:6493,LH00166:186:2372Y3LT4:8:1379:28385:13121,LH00166:186:2372Y3LT4:8:1379:28401:13121,LH00166:186:2372Y3LT4:8:1379:28409:13107,LH00166:186:2372Y3LT4:8:1379:28417:13121,LH00166:186:2372Y3LT4:8:1420:51595:1645,LH00166:186:2372Y3LT4:8:1426:3192:15026,LH00166:186:2372Y3LT4:8:1436:14664:12028,LH00166:186:2372Y3LT4:8:1477:35763:1238,LH00166:186:2372Y3LT4:8:1477:35779:1238,LH00166:186:2372Y3LT4:8:1482:14300:15657,LH00166:186:2372Y3LT4:8:1490:49136:11986,LH00166:186:2372Y3LT4:8:2149:36224:13835,LH00166:186:2372Y3LT4:8:2155:20998:8595,LH00166:186:2372Y3LT4:8:2156:37599:22971,LH00166:186:2372Y3LT4:8:2194:1785:7656,LH00166:186:2372Y3LT4:8:2197:29574:19076,LH00166:186:2372Y3LT4:8:2221:2408:8763,LH00166:186:2372Y3LT4:8:2224:21743:23027,LH00166:186:2372Y3LT4:8:2231:48221:8413,LH00166:186:2372Y3LT4:8:2231:48229:8398,LH00166:186:2372Y3LT4:8:2231:48238:8384,LH00166:186:2372Y3LT4:8:2261:21071:18221,LH00166:186:2372Y3LT4:8:2261:21079:18235,LH00166:186:2372Y3LT4:8:2265:44290:14214,LH00166:186:2372Y3LT4:8:2266:5482:21290,LH00166:186:2372Y3LT4:8:2287:21832:28618,LH00166:186:2372Y3LT4:8:2292:10546:14031,LH00166:186:2372Y3LT4:8:2295:44476:28772,LH00166:186:2372Y3LT4:8:2317:1696:7362,LH00166:186:2372Y3LT4:8:2325:44403:6563,LH00166:186:2372Y3LT4:8:2359:34347:26446,LH00166:186:2372Y3LT4:8:2361:7577:2808,LH00166:186:2372Y3LT4:8:2382:10781:2107,LH00166:186:2372Y3LT4:8:2404:33150:1280,LH00166:186:2372Y3LT4:8:2407:16573:18641,LH00166:186:2372Y3LT4:8:2429:18393:7109,LH00166:186:2372Y3LT4:8:2436:1445:19987,LH00166:186:2372Y3LT4:8:2436:8435:4125,LH00166:186:2372Y3LT4:8:2440:33263:9267,LH00166:186:2372Y3LT4:8:2454:12561:18866,LH00166:186:2372Y3LT4:8:2462:28506:22411,LH00166:186:2372Y3LT4:8:2476:10028:8342,LH00166:186:2372Y3LT4:8:2492:24291:12672,LH00166:186:2372Y3LT4:8:1117:51109:28296,LH00166:186:2372Y3LT4:8:1132:2230:16329,LH00166:186:2372Y3LT4:8:1135:24243:2443,LH00166:186:2372Y3LT4:8:1136:11072:28450,LH00166:186:2372Y3LT4:8:1147:8815:2401,LH00166:186:2372Y3LT4:8:1151:7982:2247,LH00166:186:2372Y3LT4:8:1154:11816:23462,LH00166:186:2372Y3LT4:8:1188:27414:18613,LH00166:186:2372Y3LT4:8:1188:27422:18599,LH00166:186:2372Y3LT4:8:1201:49144:12392,LH00166:186:2372Y3LT4:8:1201:49152:12378,LH00166:186:2372Y3LT4:8:1209:19154:15377,LH00166:186:2372Y3LT4:8:1219:14162:14410,LH00166:186:2372Y3LT4:8:1247:10473:20687,LH00166:186:2372Y3LT4:8:1252:24243:12112,LH00166:186:2372Y3LT4:8:1252:24251:12098,LH00166:186:2372Y3LT4:8:1266:28239:14158,LH00166:186:2372Y3LT4:8:1268:27090:25003,LH00166:186:2372Y3LT4:8:1275:44896:28688,LH00166:186:2372Y3LT4:8:1318:19372:17408,LH00166:186:2372Y3LT4:8:1329:26055:4013,LH00166:186:2372Y3LT4:8:1332:24825:1575,LH00166:186:2372Y3LT4:8:1336:28061:27161,LH00166:186:2372Y3LT4:8:1345:24048:19650,LH00166:186:2372Y3LT4:8:1366:20173:10556,LH00166:186:2372Y3LT4:8:1373:37971:7165,LH00166:186:2372Y3LT4:8:1405:16881:4013,LH00166:186:2372Y3LT4:8:1405:16881:4041,LH00166:186:2372Y3LT4:8:1405:16889:4027,LH00166:186:2372Y3LT4:8:1422:40390:19174,LH00166:186:2372Y3LT4:8:1480:22689:4853,LH00166:186:2372Y3LT4:8:1491:28401:18641,LH00166:186:2372Y3LT4:8:2135:7076:11467,LH00166:186:2372Y3LT4:8:2155:34606:7109,LH00166:186:2372Y3LT4:8:2182:30124:20645,LH00166:186:2372Y3LT4:8:2210:19469:6227,LH00166:186:2372Y3LT4:8:2210:19478:6213,LH00166:186:2372Y3LT4:8:2211:40520:1350,LH00166:186:2372Y3LT4:8:2220:5053:4629,LH00166:186:2372Y3LT4:8:2247:20173:4279,LH00166:186:2372Y3LT4:8:2248:14769:23756,LH00166:186:2372Y3LT4:8:2257:35051:11635,LH00166:186:2372Y3LT4:8:2265:34865:7614,LH00166:186:2372Y3LT4:8:2326:37971:27876,LH00166:186:2372Y3LT4:8:2328:42469:7978,LH00166:186:2372Y3LT4:8:2331:26314:3200,LH00166:186:2372Y3LT4:8:2331:29145:10262,LH00166:186:2372Y3LT4:8:2340:3556:16638,LH00166:186:2372Y3LT4:8:2341:16064:16722,LH00166:186:2372Y3LT4:8:2341:16080:16722,LH00166:186:2372Y3LT4:8:2362:16881:19734,LH00166:186:2372Y3LT4:8:2428:45778:18193,LH00166:186:2372Y3LT4:8:2431:28741:8861,LH00166:186:2372Y3LT4:8:2431:28757:8861,LH00166:186:2372Y3LT4:8:2436:44904:10682,LH00166:186:2372Y3LT4:8:2449:49313:11874,LH00166:186:2372Y3LT4:8:2469:14866:3382,LH00166:186:2372Y3LT4:8:2470:42316:29375,LH00166:186:2372Y3LT4:8:1160:7124:21416,LH00166:186:2372Y3LT4:8:1277:14446:3102,LH00166:186:2372Y3LT4:8:1305:42388:24737,LH00166:186:2372Y3LT4:8:1473:4527:28128,LH00166:186:2372Y3LT4:8:2210:11388:15601,LH00166:186:2372Y3LT4:8:2232:8556:27203,LH00166:186:2372Y3LT4:8:2347:31160:19020,LH00166:186:2372Y3LT4:8:2347:31176:19020,LH00166:186:2372Y3LT4:8:2376:26281:8833,LH00166:186:2372Y3LT4:8:2433:6372:23476,LH00166:186:2372Y3LT4:8:2433:6380:23490,LH00166:186:2372Y3LT4:8:2496:6226:28660 out-of-frame Protein_kinase_domain(54%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 42 36 -/- -/- . 85 ENST00000261798 ENST00000286301 duplication 0.012000527495714097 0.04548071387449626 0.02874062068510518 659_db9 Arriba
fp_audit 659_db9 fusion CSF1R--CSNK1A1 CSNK1A1--CSF1R CSF1R--CSNK1A1 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_db9 altera_exact 1023 clinical patient Ovarian Ovarian 67 unknown False 659_db9_T1_TRNA_1 tRNA altera_exact ssf 16.5 79.94 False cgp_rna_exp0034_lib_s07 200.00 127.5 cgp_rna_exp0034 G01 False 659_db9_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_db9_T1_TRNA_1_B2372Y3LT4_1 BND chr5 chr5 CSNK1A1 CSF1R 149517794 150068330 chr5:149517794-chr5:150068330 -,- Arriba 1 7 4 11 PASS out-of-frame CSNK1A1--CSF1R CSF1R--CSNK1A1 confidence:high;duplicates(5) high duplication CDS/splice-site CDS/splice-site 749 829 5.0 0.0 0.0 0.0 2 2 False duplicates(5) PASS False chr5:149517794 chr5:150068330 chr5:149517794-chr5:150068330 . . high 749 829 upstream downstream 7 duplicates(5) ATTTTATACACAGAGACATTAAACCAGATAACTTCCTAATGGGTATTGGGCGTCACTGTAATAAG___TGTTTAGAATCTCCAGTGGGGAAGAGGAAAAGAAGCATGACTGTTAGTACTTCTCAGGACCCATCTTTCTCAGGATTAAACCAG|GAGCCCACACGCATCCCCCGGATGAGTTCCTCTTCACACCAGTGGTGGTCGCCTGCATGTCCATCATGGCCTTGCTGCTGCTGCTGCTCCTGCTGCTATTGTACAAGTATAAGCAG___AAGCCCAAGTACCAGGTCCGCTGGAAGATCATCGAGAGCTATGAGGGCAACAGTTATACTTTCATCGACCCCACGCAGCTGCCTTACAACGAGAAGTGGGAGTTCCCCCG CSNK1A1 CSF1R ENSG00000113712 ENSG00000182578 FIHRDIKPDNFLMGIGRHCNKCLESPVGKRKRSMTVSTSQDPSFSGLNQ|eptriprmsssshqwwspacpswpcccccsccyctsisrspstrsagrssramratvilsstprsclttrsgssp LH00166:186:2372Y3LT4:8:1422:40471:6787,LH00166:186:2372Y3LT4:8:2371:37567:5624,LH00166:186:2372Y3LT4:8:1215:7804:20968,LH00166:186:2372Y3LT4:8:2319:18952:9309,LH00166:186:2372Y3LT4:8:1160:7124:21416,LH00166:186:2372Y3LT4:8:1277:14446:3102,LH00166:186:2372Y3LT4:8:1305:42388:24737,LH00166:186:2372Y3LT4:8:1473:4527:28128,LH00166:186:2372Y3LT4:8:2210:11388:15601,LH00166:186:2372Y3LT4:8:2232:8556:27203,LH00166:186:2372Y3LT4:8:2347:31160:19020,LH00166:186:2372Y3LT4:8:2347:31176:19020,LH00166:186:2372Y3LT4:8:2376:26281:8833,LH00166:186:2372Y3LT4:8:2433:6372:23476,LH00166:186:2372Y3LT4:8:2433:6380:23490,LH00166:186:2372Y3LT4:8:2496:6226:28660 out-of-frame Protein_kinase_domain(66%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 2 2 -/- -/- . 11 ENST00000261798 ENST00000286301 duplication 0.00728959575878065 0.006590772917914919 0.006940184338347784 659_db9 Arriba
fp_audit 659_db9 fusion CSF1R--CSNK1A1 CSNK1A1--CSF1R CSF1R--CSNK1A1 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_db9 altera_exact 1023 clinical patient Ovarian Ovarian 67 unknown False 659_db9_T1_TRNA_1 tRNA altera_exact ssf 16.5 79.94 False cgp_rna_exp0034_lib_s07 200.00 127.5 cgp_rna_exp0034 G01 False 659_db9_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_db9_T1_TRNA_1_B2372Y3LT4_1 BND chr5 chr5 CSNK1A1 CSF1R 149525045 150068330 chr5:149525045-chr5:150068330 -,- Arriba 1 1 4 5 PASS out-of-frame CSNK1A1--CSF1R CSF1R--CSNK1A1 confidence:medium;duplicates(2) medium duplication CDS/splice-site CDS/splice-site 5396 829 2.0 0.0 0.0 0.0 1 3 False duplicates(2) FAIL False chr5:149525045 chr5:150068330 chr5:149525045-chr5:150068330 . . medium 5396 829 upstream downstream 1 confidence_below_min(medium<high);total_reads_below_min(5.0<8.0) duplicates(2) CTGTACGAGAGCAAGCTCTATAAGATTCTTCAAGGTGGGGTTGGCATCCCCCACATACG___GTGGTATGGTCAGGAAAAAGACTACAATGTACTAGTCATGGATCTTCTGGGACCTAGCCTCGAAGACCTCTTCAATTTCTGTTCAAGAAGGTTCACAATGAAAACTGTACTTATGTTAGCTGACCAG|GAGCCCACACGCATCCCCCGGATGAGTTCCTCTTCACACCAGTGGTGGTCGCCTGCATGTCCATCATGGCCTTGCTGCTGCTGCTGCTCCTGCTGCTATTGTACAAGTATAAGCAG___AAGCCCAAGTACCAGGTCCGCTGGAAGATCATCGAGAGCTATGAGGGCAACAGTTATACTTTCATCGACCCCACGCAGCTGCC CSNK1A1 CSF1R ENSG00000113712 ENSG00000182578 LYESKLYKILQGGVGIPHIRWYGQEKDYNVLVMDLLGPSLEDLFNFCSRRFTMKTVLMLADQ|eptriprmsssshqwwspacpswpcccccsccyctsisrspstrsagrssramratvilsstprsc LH00166:186:2372Y3LT4:8:2214:51045:12462,LH00166:186:2372Y3LT4:8:2412:25885:28941,LH00166:186:2372Y3LT4:8:1172:26168:9954,LH00166:186:2372Y3LT4:8:1423:39233:1224,LH00166:186:2372Y3LT4:8:2397:26856:21122,LH00166:186:2372Y3LT4:8:2347:31160:19020,LH00166:186:2372Y3LT4:8:2347:31176:19020 out-of-frame Protein_kinase_domain(41%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 3 -/- -/- . 5 ENST00000261798 ENST00000286301 duplication 0.0002779064381658175 0.004204204204204204 0.002241055321185011 659_db9 Arriba
fp_audit 659_db9 fusion CSF1R--CSNK1A1 CSNK1A1--CSF1R CSF1R--CSNK1A1 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_db9 altera_exact 1023 clinical patient Ovarian Ovarian 67 unknown False 659_db9_T1_TRNA_1 tRNA altera_exact ssf 16.5 79.94 False cgp_rna_exp0034_lib_s07 200.00 127.5 cgp_rna_exp0034 G01 False 659_db9_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_db9_T1_TRNA_1_B2372Y3LT4_1 BND chr5 chr5 CSNK1A1 CSF1R 149520290 150061849 chr5:149520290-chr5:150061849 -,- Arriba 1 0 2 2 PASS in-frame CSNK1A1--CSF1R CSF1R--CSNK1A1 confidence:medium;duplicates(1) medium duplication CDS/splice-site CDS/splice-site 3746 693 1.0 0.0 0.0 0.0 1 1 True duplicates(1) FAIL False chr5:149520290 chr5:150061849 chr5:149520290-chr5:150061849 . . medium 3746 693 upstream downstream 0 confidence_below_min(medium<high);total_reads_below_min(2.0<8.0) duplicates(1) AAAAAGACTACAATGTACTAGTCATGGATCTTCTGGGACCTAGCCTCGAAGACCTCTTCAATTTCTGTTCAAGAAGGTTCACAATGAAAACTGTACTTATGTTAGCTGACCAG___ATGATCAGTAGAATTGAATATGTGCATACAAAGAATTTTATACACAGAGACATTAAACCAGATAACTTCCTAATGGGTATTGGGCGTCACTGTAATAAG|AAGCCCAAGTACCAGGTCCGCTGGAAGATCATCGAGAGCTATGAGGGCAACAGTTATACTTTCATCGACCCCACGCAGCTGCCTTACAACGAG CSNK1A1 CSF1R ENSG00000113712 ENSG00000182578 KDYNVLVMDLLGPSLEDLFNFCSRRFTMKTVLMLADQMISRIEYVHTKNFIHRDIKPDNFLMGIGRHCNK|KPKYQVRWKIIESYEGNSYTFIDPTQLPYN LH00166:186:2372Y3LT4:8:2305:8451:14017,LH00166:186:2372Y3LT4:8:2305:8459:14003,LH00166:186:2372Y3LT4:8:1419:17487:26334 in-frame Protein_kinase_domain(54%)|Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 1 -/- -/- . 2 ENST00000261798 ENST00000286301 duplication 0.0002668801708033093 0.001440922190201729 0.0008539011805025192 659_db9 Arriba
fp_audit 659_db9 fusion CSF1R--CSNK1A1 CSNK1A1--CSF1R CSF1R--CSNK1A1 FP FP Arriba; STAR-Fusion cgp_rna_exp0034 659_db9 altera_exact 1023 clinical patient Ovarian Ovarian 67 unknown False 659_db9_T1_TRNA_1 tRNA altera_exact ssf 16.5 79.94 False cgp_rna_exp0034_lib_s07 200.00 127.5 cgp_rna_exp0034 G01 False 659_db9_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_db9_T1_TRNA_1_B2372Y3LT4_1 BND chr5 chr5 CSNK1A1 CSF1R 149520290 150068330 chr5:149520290-chr5:150068330 -,- STAR-Fusion 1 8 83 0.4172 91 PASS out-of-frame CSNK1A1--CSF1R CSF1R--CSNK1A1 "[""INTRACHROMOSOMAL[chr5:0.50Mb]""]" ONLY_REF_SPLICE YES_LDAS 1.7465 False False False GT AG 83 False 1 ENST00000657706.1 1-690 ENST00000675795.1 1511-2919 0.4172 PASS atggcgagtagcagcggctccaaggctgaattcattgtcggagggaaatataaactggtacggaagatcgggtctggctccttcggggacatctatttggcgatcaacatcaccaacggcgaggaagtggcagtgaagctagaatctcagaaggccaggcatccccagttgctgtacgagagcaagctctataagattcttcaaggtggggttggcatcccccacatacgagttttgttcttgttgcccaggcaggagtgcaatagcgtgatctcggctcactgcaacctcggcctcccgggttcaagcaattttcctgcctcagccttccaagtagctggattacagcatgtaaagctcataagccttgcactgaagaacctatactgcagcttcaatctatctgccaccttgactcttccctttatgacagcccatgccccaaaatggtttgcccctgcctggtggtatggtcaggaaaaagactacaatgtactagtcatggatcttctgggacctagcctcgaagacctcttcaatttctgttcaagaaggttcacaatgaaaactgtacttatgttagctgaccagatgatcagtagaattgaatatgtgcatacaaagaattttatacacagagacattaaaccagataacttcctaatgggtattgggcgtcactgtaataagGAGCCCACACGCATCCCCCGGATGAGTTCCTCTTCACACCAGTGGTGGTCGCCTGCATGTCCATCATGGCCTTGCTGCTGCTGCTGCTCCTGCTGCTATTGTACAAGTATAAGCAGAAGCCCAAGTACCAGGTCCGCTGGAAGATCATCGAGAGCTATGAGGGCAACAGTTATACTTTCATCGACCCCACGCAGCTGCCTTACAACGAGAAGTGGGAGTTCCCCCGGAACAACCTGCAGTTTGGTAAGACCCTCGGAGCTGGAGCCTTTGGGAAGGTGGTGGAGGCCACGGCCTTTGGTCTGGGCAAGGAGGATGCTGTCCTGAAGGTGGCTGTGAAGATGCTGAAGTCCACGGCCCATGCTGATGAGAAGGAGGCCCTCATGTCCGAGCTGAAGATCATGAGCCACCTGGGCCAGCACGAGAACATCGTCAACCTTCTGGGAGCCTGTACCCATGGAGGCCCTGTACTGGTCATCACGGAGTACTGTTGCTATGGCGACCTGCTCAACTTTCTGCGAAGGAAGGCTGAGGCCATGCTGGGACCCAGCCTGAGCCCCGGCCAGGACCCCGAGGGAGGCGTCGACTATAAGAACATCCACCTCGAGAAGAAATATGTCCGCAGGGACAGTGGCTTCTCCAGCCAGGGTGTGGACACCTATGTGGAGATGAGGCCTGTCTCCACTTCTTCAAATGACTCCTTCTCTGAGCAAGACCTGGACAAGGAGGATGGACGGCCCCTGGAGCTCCGGGACCTGCTTCACTTCTCCAGCCAAGTAGCCCAGGGCATGGCCTTCCTCGCTTCCAAGAATTGCATCCACCGGGACGTGGCAGCGCGTAACGTGCTGTTGACCAATGGTCATGTGGCCAAGATTGGGGACTTCGGGCTGGCTAGGGACATCATGAATGACTCCAACTACATTGTCAAGGGCAATGCCCGCCTGCCTGTGAAGTGGATGGCCCCAGAGAGCATCTTTGACTGTGTCTACACGGTTCAGAGCGACGTCTGGTCCTATGGCATCCTCCTCTGGGAGATCTTCTCACTTGGGCTGAATCCCTACCCTGGCATCCTGGTGAACAGCAAGTTCTATAAACTGGTGAAGGATGGATACCAAATGGCCCAGCCTGCATTTGCCCCAAAGAATATATACAGCATCATGCAGGCCTGCTGGGCCTTGGAGCCCACCCACAGACCCACCTTCCAGCAGATCTGCTCCTTCCTTCAGGAGCAGGCCCAAGAGGACAGGAGAGAGCGGGACTATACCAATCTGCCGAGCAGCAGCAGAAGCGGTGGCAGCGGCAGCAGCAGCAGTGAGCTGGAGGAGGAGAGCTCTAGTGAGCACCTGACCTGCTGCGAGCAAGGGGATATCGCCCAGCCCTTGCTGCAGCCCAACAACTATCAGTTCTGCTGA chr5|-|[2]149520290-149520388[0]|[2]149525045-149525171[2]|[1]149529604-149529719[0]|[2]149531394-149531511[2]|[1]149550075-149550181[0]|[2]149550842-149550964[0]<==>chr5|-|[2]150054069-150054224[0]|[2]150054322-150054430[2]|[1]150055237-150055336[1]|[0]150056026-150056137[0]|[2]150056219-150056341[0]|[2]150057287-150057384[1]|[0]150057504-150057592[2]|[1]150059700-150059862[1]|[0]150060862-150060972[1]|[0]150061491-150061595[1]|[0]150061723-150061849[0]|[2]150068215-150068330[1] MASSSGSKAEFIVGGKYKLVRKIGSGSFGDIYLAINITNGEEVAVKLESQKARHPQLLYESKLYKILQGGVGIPHIRVLFLLPRQECNSVISAHCNLGLPGSSNFPASAFQVAGLQHVKLISLALKNLYCSFNLSATLTLPFMTAHAPKWFAPAWWYGQEKDYNVLVMDLLGPSLEDLFNFCSRRFTMKTVLMLADQMISRIEYVHTKNFIHRDIKPDNFLMGIGRHCNKEPTRIPRMSSSSHQWWSPACPSWPCCCCCSCCYCTSISRSPSTRSAGRSSRAMRATVILSSTPRSCLTTRSGSSPGTTCSLVRPSELEPLGRWWRPRPLVWARRMLS*RWL*RC*SPRPMLMRRRPSCPS*RS*ATWASTRTSSTFWEPVPMEALYWSSRSTVAMATCSTFCEGRLRPCWDPA*APARTPREASTIRTSTSRRNMSAGTVASPARVWTPMWR*GLSPLLQMTPSLSKTWTRRMDGPWSSGTCFTSPAK*PRAWPSSLPRIASTGTWQRVTCC*PMVMWPRLGTSGWLGTS*MTPTTLSRAMPACL*SGWPQRASLTVSTRFRATSGPMASSSGRSSHLG*IPTLASW*TASSINW*RMDTKWPSLHLPQRIYTASCRPAGPWSPPTDPPSSRSAPSFRSRPKRTGESGTIPICRAAAEAVAAAAAAVSWRRRALVST*PAASKGISPSPCCSPTTISSA CSNK1A1--CSF1R 83 LH00166:186:2372Y3LT4:8:1117:48189:13429,LH00166:186:2372Y3LT4:8:1117:51109:28296,LH00166:186:2372Y3LT4:8:1132:2230:16329,LH00166:186:2372Y3LT4:8:1135:24243:2443,LH00166:186:2372Y3LT4:8:1136:11072:28450,LH00166:186:2372Y3LT4:8:1141:39670:14284,LH00166:186:2372Y3LT4:8:1143:21832:13373,LH00166:186:2372Y3LT4:8:1147:8815:2401,LH00166:186:2372Y3LT4:8:1151:7982:2247,LH00166:186:2372Y3LT4:8:1154:11816:23462,LH00166:186:2372Y3LT4:8:1155:44702:12995,LH00166:186:2372Y3LT4:8:1156:17277:1168,LH00166:186:2372Y3LT4:8:1170:20367:27371,LH00166:186:2372Y3LT4:8:1170:47898:16259,LH00166:186:2372Y3LT4:8:1201:49144:12392,LH00166:186:2372Y3LT4:8:1209:19154:15377,LH00166:186:2372Y3LT4:8:1228:20473:11944,LH00166:186:2372Y3LT4:8:1229:9187:15208,LH00166:186:2372Y3LT4:8:1246:29533:29263,LH00166:186:2372Y3LT4:8:1247:10473:20687,LH00166:186:2372Y3LT4:8:1252:24243:12112,LH00166:186:2372Y3LT4:8:1253:35771:24316,LH00166:186:2372Y3LT4:8:1266:28239:14158,LH00166:186:2372Y3LT4:8:1268:27090:25003,LH00166:186:2372Y3LT4:8:1275:44896:28688,LH00166:186:2372Y3LT4:8:1279:31871:9239,LH00166:186:2372Y3LT4:8:1297:35593:15265,LH00166:186:2372Y3LT4:8:1312:35641:14816,LH00166:186:2372Y3LT4:8:1318:19372:17408,LH00166:186:2372Y3LT4:8:1329:26055:4013,LH00166:186:2372Y3LT4:8:1331:31774:23055,LH00166:186:2372Y3LT4:8:1334:4333:22243,LH00166:186:2372Y3LT4:8:1336:28061:27161,LH00166:186:2372Y3LT4:8:1343:16889:22663,LH00166:186:2372Y3LT4:8:1345:24048:19650,LH00166:186:2372Y3LT4:8:1359:16282:24387,LH00166:186:2372Y3LT4:8:1365:29412:5960,LH00166:186:2372Y3LT4:8:1366:20173:10556,LH00166:186:2372Y3LT4:8:1379:26613:6493,LH00166:186:2372Y3LT4:8:1379:28385:13121,LH00166:186:2372Y3LT4:8:1405:16881:4013,LH00166:186:2372Y3LT4:8:1422:40390:19174,LH00166:186:2372Y3LT4:8:1426:3192:15026,LH00166:186:2372Y3LT4:8:1477:35763:1238,LH00166:186:2372Y3LT4:8:1480:22689:4853,LH00166:186:2372Y3LT4:8:1482:14300:15657,LH00166:186:2372Y3LT4:8:1491:28401:18641,LH00166:186:2372Y3LT4:8:2135:7076:11467,LH00166:186:2372Y3LT4:8:2149:36224:13835,LH00166:186:2372Y3LT4:8:2155:34606:7109,LH00166:186:2372Y3LT4:8:2156:37599:22971,LH00166:186:2372Y3LT4:8:2182:30124:20645,LH00166:186:2372Y3LT4:8:2194:1785:7656,LH00166:186:2372Y3LT4:8:2197:29574:19076,LH00166:186:2372Y3LT4:8:2210:19469:6227,LH00166:186:2372Y3LT4:8:2211:40520:1350,LH00166:186:2372Y3LT4:8:2220:5053:4629,LH00166:186:2372Y3LT4:8:2221:2408:8763,LH00166:186:2372Y3LT4:8:2224:21743:23027,LH00166:186:2372Y3LT4:8:2247:20173:4279,LH00166:186:2372Y3LT4:8:2248:14769:23756,LH00166:186:2372Y3LT4:8:2261:21071:18221,LH00166:186:2372Y3LT4:8:2265:34865:7614,LH00166:186:2372Y3LT4:8:2266:5482:21290,LH00166:186:2372Y3LT4:8:2292:10546:14031,LH00166:186:2372Y3LT4:8:2317:1696:7362,LH00166:186:2372Y3LT4:8:2325:44403:6563,LH00166:186:2372Y3LT4:8:2326:37971:27876,LH00166:186:2372Y3LT4:8:2331:29145:10262,LH00166:186:2372Y3LT4:8:2340:3556:16638,LH00166:186:2372Y3LT4:8:2361:7577:2808,LH00166:186:2372Y3LT4:8:2362:16881:19734,LH00166:186:2372Y3LT4:8:2382:10781:2107,LH00166:186:2372Y3LT4:8:2404:33150:1280,LH00166:186:2372Y3LT4:8:2407:16573:18641,LH00166:186:2372Y3LT4:8:2429:18393:7109,LH00166:186:2372Y3LT4:8:2436:1445:19987,LH00166:186:2372Y3LT4:8:2436:8435:4125,LH00166:186:2372Y3LT4:8:2449:49313:11874,LH00166:186:2372Y3LT4:8:2454:12561:18866,LH00166:186:2372Y3LT4:8:2462:28506:22411,LH00166:186:2372Y3LT4:8:2476:10028:8342,LH00166:186:2372Y3LT4:8:2492:24291:12672 YES_LDAS GT 1.9656 chr5:149520290:- CSNK1A1^ENSG00000113712.19 Pkinase|17-54|8.9e-08^PK_Tyr_Ser-Thr|18-60|1.9e-05^ABC1|23-49|0.00025^Pkinase|159-313|1.1e-20^PK_Tyr_Ser-Thr|164-322|5.5e-12^Pox_ser-thr_kin|186-222|1.5e-05^Kdo|197-248|8.8e-05^Pkinase_fungal|203-291|2.1e-13^ABC1|273-296|1.9^Kdo|339-374|0.64 . FRAMESHIFT AG 1.7465 chr5:150068330:- CSF1R^ENSG00000182578.14 8 LH00166:186:2372Y3LT4:8:1160:7124:21416,LH00166:186:2372Y3LT4:8:1277:14446:3102,LH00166:186:2372Y3LT4:8:1305:42388:24737,LH00166:186:2372Y3LT4:8:1473:4527:28128,LH00166:186:2372Y3LT4:8:2210:11388:15601,LH00166:186:2372Y3LT4:8:2232:8556:27203,LH00166:186:2372Y3LT4:8:2347:31160:19020,LH00166:186:2372Y3LT4:8:2433:6372:23476 ONLY_REF_SPLICE "[""INTRACHROMOSOMAL[chr5:0.50Mb]""]" False chr5:149520290-chr5:150068330 83.0 8.0 91 659_db9 STAR-Fusion
fp_audit 659_db9 fusion NUS1--ROS1 NUS1--ROS1 NUS1--ROS1 FP FP Arriba cgp_rna_exp0034 659_db9 altera_exact 1023 clinical patient Ovarian Ovarian 67 unknown False 659_db9_T1_TRNA_1 tRNA altera_exact ssf 16.5 79.94 False cgp_rna_exp0034_lib_s07 200.00 127.5 cgp_rna_exp0034 G01 False 659_db9_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_db9_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr6 NUS1 ROS1 117676085 117310967 chr6:117676085-chr6:117310967 +,+ Arriba 1 0 6 6 PASS out-of-frame NUS1--ROS1 NUS1--ROS1 confidence:medium;duplicates(1),mismatches(1) medium duplication/5'-5' CDS/splice-site intron 2858 98 1.0 1.0 0.0 0.0 2 4 False duplicates(1),mismatches(1) FAIL False chr6:117676085 chr6:117310967 chr6:117676085-chr6:117310967 . . medium 2858 98 downstream upstream 0 confidence_below_min(medium<high);total_reads_below_min(6.0<8.0) duplicates(1),mismatches(1) CCCGCGCGGGGGGTCGTGCCTGGCAGCCGCACACCACCGGATGCGCTGGCGCGCGGACGGTCGTTCCTTGGAGAAGCTGCCTGTGCATATGGGCCTGGTGATCACCGAGGTGGAGCAGGAACCCAGCTTCTCGGACATCGCGAGCCTCGTGGTGTGGTGTATGGCCGTGGGCATCTCCTACATTAGCGTCTACGACCACCAAG|GTGATTATTGTGCCAATATCCGTAATAACCCTGTATCCAGAAGAGAATTGTACCTGTGAATGAAATGCATCCGTTCCAAGTAGACACAGCCTTTTGAAATATCTACACACAGGTCTACAAGGTCAACCAAG___CG NUS1 ROS1 ENSG00000153989 ENSG00000047936 PRGGSCLAAAHHRMRWRADGRSLEKLPVHMGLVITEVEQEPSFSDIASLVVWCMAVGISYISVYDHQ|gdycanirnnpvsrrelyl* LH00166:186:2372Y3LT4:8:1421:7941:22467,LH00166:186:2372Y3LT4:8:1431:44281:25830,LH00166:186:2372Y3LT4:8:1459:19389:17773,LH00166:186:2372Y3LT4:8:2223:42308:4867,LH00166:186:2372Y3LT4:8:2464:41927:10626,LH00166:186:2372Y3LT4:8:2468:26200:2499,LH00166:186:2372Y3LT4:8:2239:35852:4083,LH00166:186:2372Y3LT4:8:2315:41660:9127 out-of-frame . CDS/splice-site intron 2 4 +/+ -/+ . 6 ENST00000368494 . duplication/5'-5' 0.0006993006993006993 0.0392156862745098 0.019957493486905252 659_db9 Arriba
fp_audit 659_db9 fusion OXNAD1--PPARG OXNAD1--PPARG OXNAD1--PPARG FP FP Arriba cgp_rna_exp0034 659_db9 altera_exact 1023 clinical patient Ovarian Ovarian 67 unknown False 659_db9_T1_TRNA_1 tRNA altera_exact ssf 16.5 79.94 False cgp_rna_exp0034_lib_s07 200.00 127.5 cgp_rna_exp0034 G01 False 659_db9_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_db9_T1_TRNA_1_B2372Y3LT4_1 BND chr3 chr3 OXNAD1 PPARG 16303592 12470821 chr3:16303592-chr3:12470821 +,+ Arriba 1 0 18 18 PASS stop-codon OXNAD1--PPARG OXNAD1--PPARG confidence:high;duplicates(3),mismatches(1) high duplication 3'UTR/splice-site intergenic 564 7 3.0 1.0 0.0 0.0 12 6 duplicates(3),mismatches(1) PASS False chr3:16303592 chr3:12470821 chr3:16303592-chr3:12470821 . . high 564 7 downstream upstream 0 duplicates(3),mismatches(1) CAAAAGAGACTTTGTTCTATATTTGTGGCCCACCTCCAATGACAGACTTTTTCTCCAAGCAACTGGAAAACAACCATGTACCCAAAGAACACATTTGCTTTGAGAAGTGGTGGTAGGAGGCAGACAAAGGCAGAAAAAATAAAGAG|CAAGGCCCAGAAAGCTACCACCTGCTGCTGTTTCTGCCTCTTCTGGCCATTCAACAAGTGTTCACTGATGACTCTCGGGAGAAAGTCAAGGCACAGAGATGAATAAGGCCCAGGCCCCGCCCTGCAGACCCCCAGGCCACTGGATGACATCCC OXNAD1 PPARG(36465),TSEN2(13611) ENSG00000154814 . . LH00166:186:2372Y3LT4:8:1141:27058:10458,LH00166:186:2372Y3LT4:8:1436:49038:21878,LH00166:186:2372Y3LT4:8:1436:49055:21878,LH00166:186:2372Y3LT4:8:2114:45309:1098,LH00166:186:2372Y3LT4:8:2150:40317:3242,LH00166:186:2372Y3LT4:8:2253:24283:25101,LH00166:186:2372Y3LT4:8:2307:32875:21486,LH00166:186:2372Y3LT4:8:1128:12795:18459,LH00166:186:2372Y3LT4:8:1283:40115:3816,LH00166:186:2372Y3LT4:8:1325:14195:22341,LH00166:186:2372Y3LT4:8:1325:14203:22355,LH00166:186:2372Y3LT4:8:1325:32591:4517,LH00166:186:2372Y3LT4:8:1328:19720:3859,LH00166:186:2372Y3LT4:8:1405:4713:27105,LH00166:186:2372Y3LT4:8:1413:24267:14816,LH00166:186:2372Y3LT4:8:2142:37640:11355,LH00166:186:2372Y3LT4:8:2187:13006:14003,LH00166:186:2372Y3LT4:8:2235:40876:28030,LH00166:186:2372Y3LT4:8:2267:41685:11663,LH00166:186:2372Y3LT4:8:2323:49516:28730,LH00166:186:2372Y3LT4:8:2326:47534:16750,LH00166:186:2372Y3LT4:8:2437:32389:21206 stop-codon Oxidoreductase_NAD-binding_domain_(100%)| 3'UTR/splice-site intergenic 12 6 +/+ ./+ . 18 ENST00000606098 . duplication 0.020833333333333332 0.46153846153846156 0.24118589743589744 659_db9 Arriba
fp_audit 659_epJ fusion AC007091--ETV1 ETV1--AC007091 AC007091--ETV1 FP FP Arriba cgp_rna_exp0034 659_epJ altera_exact 1023 clinical patient Melanoma Melanoma 79 unknown False 659_epJ_T1_TRNA_1 tRNA altera_exact ssf 20.2 84.19 False cgp_rna_exp0034_lib_s11 200.00 71.00 cgp_rna_exp0034 C02 False 659_epJ_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_epJ_T1_TRNA_1_B2372Y3LT4_1 BND chr7 chr7 ETV1 AC007091 13977427 19601741 chr7:13977427-chr7:19601741 -,+ Arriba 1 1 2 3 PASS out-of-frame ETV1--AC007091 AC007091--ETV1 confidence:medium;duplicates(7) medium inversion CDS/splice-site intergenic 9408 6 7.0 0.0 0.0 0.0 2 0 False duplicates(7) FAIL False chr7:13977427 chr7:19601741 chr7:13977427-chr7:19601741 . . medium 9408 6 upstream upstream 1 confidence_below_min(medium<high);total_reads_below_min(3.0<8.0) duplicates(7) CGAGAAACCAACAAATGTCAGGAAAAGAAAATTCATTAACAGAGATCTGGCTCATGATTCAGAAG___AACTCTTTCAAGATCTAAGTCAATTACAGGAAACATGGCTTGCAGAAG___CTCAGGTACCTGACAATGATGAGCAGTTTGTACCAGACTATCAGGCTGAAAGTT|GTATTACATGGTGCCACAATTCTTGCACTGGTTCCTTTTCATCTGGATATGCTGGCCCTTCTAATTTTG___CTTGTTGGATAAAAAGGAATGAACAGGAGCTCACCAGCCATCAGAGAATTGCAGCTAACCCTAG___GTTAAGAAAGAATAACCAAG ETV1 AC007091.1(23135),POLR1F(93720) ENSG00000006468 . EKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQAES|citwchnsctgsfssgyagpsnfacwikrneqeltshqriaanprlrknnq LH00166:186:2372Y3LT4:8:2130:14680:15026,LH00166:186:2372Y3LT4:8:2185:12099:7025,LH00166:186:2372Y3LT4:8:2257:49686:11061,LH00166:186:2372Y3LT4:8:2257:49702:11061,LH00166:186:2372Y3LT4:8:2482:20028:2569,LH00166:186:2372Y3LT4:8:1220:27859:16582,LH00166:186:2372Y3LT4:8:1228:3370:17549,LH00166:186:2372Y3LT4:8:1234:22398:3873,LH00166:186:2372Y3LT4:8:2287:37429:15671,LH00166:186:2372Y3LT4:8:2431:29323:9505 out-of-frame PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(24%)| CDS/splice-site intergenic 2 0 -/- ./+ . 3 ENST00000430479 . inversion 0.00026566069815631474 0.07692307692307693 0.03859436881061662 659_epJ Arriba
fp_audit 659_epJ fusion CAMK2D--FGFR3 FGFR3--CAMK2D CAMK2D--FGFR3 FP FP Arriba cgp_rna_exp0034 659_epJ altera_exact 1023 clinical patient Melanoma Melanoma 79 unknown False 659_epJ_T1_TRNA_1 tRNA altera_exact ssf 20.2 84.19 False cgp_rna_exp0034_lib_s11 200.00 71.00 cgp_rna_exp0034 C02 False 659_epJ_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_epJ_T1_TRNA_1_B2372Y3LT4_1 BND chr4 chr4 FGFR3 CAMK2D 1808856 113610080 chr4:1808856-chr4:113610080 +,- Arriba 1 0 3 3 PASS FGFR3--CAMK2D CAMK2D--FGFR3 confidence:low;duplicates(3) low inversion 3'UTR intron 654 2 3.0 0.0 0.0 0.0 3 0 duplicates(3) FAIL False chr4:1808856 chr4:113610080 chr4:1808856-chr4:113610080 . . low 654 2 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(3.0<8.0) duplicates(3) GTCTGGGCAGCTGTCCCTTGCTTGCCTGCAGGGCCATGGCTCAGGGTGGTCTCTTCTTGGGGCCCAGTGCATGGTGGCCAGAGGTGTCACCCAAACCGGCAGGTGCGATTTTGTTAACCCAGCGACGAACTTTCCGAAAAATAAAGACAC|CTGAAGCTAAAATAAAAGTAAAAAATAAAAATAAATAAGCAAAAAAAAAAAG FGFR3 CAMK2D ENSG00000068078 ENSG00000145349 . LH00166:186:2372Y3LT4:8:1417:45835:4699,LH00166:186:2372Y3LT4:8:1422:48844:11930,LH00166:186:2372Y3LT4:8:2214:26742:18319,LH00166:186:2372Y3LT4:8:2217:44063:1575,LH00166:186:2372Y3LT4:8:2223:8111:6171,LH00166:186:2372Y3LT4:8:2450:28700:18319 . Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Calcium/calmodulin_dependent_protein_kinase_II_association_domain(100%),Protein_kinase_domain(78%) 3'UTR intron 3 0 +/+ -/- . 3 ENST00000412135 . inversion 0.0045662100456621 0.0 0.00228310502283105 659_epJ Arriba
fp_audit 659_w fusion ESR1--SNX9 SNX9--ESR1 ESR1--SNX9 FP FP Arriba cgp_rna_exp0034 659_w altera_exact 1023 clinical patient Breast Breast 72 unknown False 659_w_T1_TRNA_1 tRNA altera_exact ssf 355.00 49.81 False cgp_rna_exp0034_lib_s13 200.00 20.33 cgp_rna_exp0034 E02 False 659_w_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_w_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr6 SNX9 ESR1 157823446 151880655 chr6:157823446-chr6:151880655 +,+ Arriba 1 0 1 1 PASS out-of-frame SNX9--ESR1 ESR1--SNX9 confidence:low;duplicates(2) low duplication CDS/splice-site CDS/splice-site 1224 3343 2.0 0.0 0.0 0.0 1 0 False duplicates(2) FAIL False chr6:157823446 chr6:151880655 chr6:157823446-chr6:151880655 . . low 1224 3343 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) CGGGGCCCAGCCGGAGCCGCCGCCCTCGCCCTTGCCTTTGCCTGCGCGGCTCAGAATCACCATCCGCGGCGCGGGAGACGAGCCGGCCGTCCCGGGCCGGGGGACCCGCCCGCCATGGCCACCAAG|GACATAACGACgATATGTGTCCAGCCACCAACCAG SNX9 ESR1 ENSG00000130340 ENSG00000091831 MATK|ditticvqppt LH00166:186:2372Y3LT4:8:1170:22010:6227,LH00166:186:2372Y3LT4:8:1278:34921:8497,LH00166:186:2372Y3LT4:8:1370:32413:2163 out-of-frame |Ligand-binding_domain_of_nuclear_hormone_receptor(99%),Oestrogen-type_nuclear_receptor_final_C-terminal_(100%),Oestrogen_receptor(1%),Zinc_finger__C4_type_(two_domains)(70%) CDS/splice-site CDS/splice-site 1 0 +/+ +/+ . 1 ENST00000392185 ENST00000440973 duplication 0.0008163265306122449 0.0 0.00040816326530612246 659_w Arriba
fp_audit 659_w fusion ESR1--SNX9 SNX9--ESR1 ESR1--SNX9 FP FP Arriba cgp_rna_exp0034 659_w altera_exact 1023 clinical patient Breast Breast 72 unknown False 659_w_T1_TRNA_1 tRNA altera_exact ssf 355.00 49.81 False cgp_rna_exp0034_lib_s13 200.00 20.33 cgp_rna_exp0034 E02 False 659_w_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_w_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr6 SNX9 ESR1 157823446 151944173 chr6:157823446-chr6:151944173 +,+ Arriba 1 0 1 1 PASS out-of-frame SNX9--ESR1 ESR1--SNX9 confidence:low;duplicates(5) low duplication CDS/splice-site CDS/splice-site 1224 6916 5.0 0.0 0.0 0.0 1 0 False duplicates(5) FAIL False chr6:157823446 chr6:151944173 chr6:157823446-chr6:151944173 . . low 1224 6916 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(5) GCTGGGCCTGAGCGTCGAGACTCGGGGCCGAGGCGGAGGAGCGGCCGCCGCGCCGGGGCCCAGCCGGAGCCGCCGCCCTCGCCCTTGCCTTTGCCTGCGCGGCTCAGAATCACCATCCGCGGCGCGGGAGACGAGCCGGCCGTCCCGGGCCGGGGGACCCGCCCGCCATGGCCACCAAG|GGATACGAAAAGACCGAAGAGGAGG SNX9 ESR1 ENSG00000130340 ENSG00000091831 MATK|gyekteee LH00166:186:2372Y3LT4:8:1197:18919:22173,LH00166:186:2372Y3LT4:8:1296:40787:28128,LH00166:186:2372Y3LT4:8:1306:18321:15166,LH00166:186:2372Y3LT4:8:2112:23061:21472,LH00166:186:2372Y3LT4:8:2196:26119:16035,LH00166:186:2372Y3LT4:8:2196:26128:16021 out-of-frame |Ligand-binding_domain_of_nuclear_hormone_receptor(99%),Oestrogen-type_nuclear_receptor_final_C-terminal_(100%),Oestrogen_receptor(0%) CDS/splice-site CDS/splice-site 1 0 +/+ +/+ . 1 ENST00000392185 ENST00000440973 duplication 0.0008163265306122449 0.0 0.00040816326530612246 659_w Arriba
fp_audit 659_w fusion ESR1--SNX9 SNX9--ESR1 ESR1--SNX9 FP FP Arriba cgp_rna_exp0034 659_w altera_exact 1023 clinical patient Breast Breast 72 unknown False 659_w_T1_TRNA_1 tRNA altera_exact ssf 355.00 49.81 False cgp_rna_exp0034_lib_s13 200.00 20.33 cgp_rna_exp0034 E02 False 659_w_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_w_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr6 SNX9 ESR1 157823446 152060991 chr6:157823446-chr6:152060991 +,+ Arriba 1 0 1 1 PASS out-of-frame SNX9--ESR1 ESR1--SNX9 confidence:low;duplicates(2) low duplication CDS/splice-site CDS/splice-site 1224 6618 2.0 0.0 0.0 0.0 1 0 False duplicates(2) FAIL False chr6:157823446 chr6:152060991 chr6:157823446-chr6:152060991 . . low 1224 6618 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) duplicates(2) GGCTGGGCCTGAGCGTCGAGACTCGGGGCCGAGGCGGAGGAGCGGCCGCCGCGCCGGGGCCCAGCCGGAGCCGCCGCCCTCGCCCTTGCCTTTGCCTGCGCGGCTCAGAATCACCATCCGCGGCGCGGGAGACGAGCCGGCCGTCCCGGGCCGGGGGACCCGCCCGCCATGGCCACCAAG|GAACCAGGGAAAATGTGTAGAGGGCATGGTGGAGATCTTCGACATGC SNX9 ESR1 ENSG00000130340 ENSG00000091831 MATK|epgkmcrghggdlrh LH00166:186:2372Y3LT4:8:2259:28102:19020,LH00166:186:2372Y3LT4:8:2259:28110:19006,LH00166:186:2372Y3LT4:8:2259:28118:19020 out-of-frame |Ligand-binding_domain_of_nuclear_hormone_receptor(67%),Oestrogen-type_nuclear_receptor_final_C-terminal_(100%),Oestrogen_receptor(0%) CDS/splice-site CDS/splice-site 1 0 +/+ +/+ . 1 ENST00000392185 ENST00000440973 duplication 0.0008163265306122449 0.0 0.00040816326530612246 659_w Arriba
fp_audit 659_w9 fusion CCDC170--ESR1 CCDC170--ESR1 CCDC170--ESR1 FP FP Arriba cgp_rna_exp0034 659_w9 altera_exact 1023 clinical patient Cutaneous Squamous Cell Carcinoma Cutaneous Squamous Cell Carcinoma 70 unknown False 659_w9_T1_TRNA_1 tRNA altera_exact ssf 270.00 68.89 False cgp_rna_exp0034_lib_s03 200.00 50.48 cgp_rna_exp0034 C01 False 659_w9_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_w9_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr6 CCDC170 ESR1 151629982 151807843 chr6:151629982-chr6:151807843 +,+ Arriba 1 0 4 4 PASS CCDC170--ESR1 CCDC170--ESR1 confidence:low;duplicates(5) low deletion/read-through intergenic 5'UTR/splice-site 5 353 5.0 0.0 0.0 0.0 1 3 duplicates(5) FAIL False chr6:151629982 chr6:151807843 chr6:151629982-chr6:151807843 . . low 5 353 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(4.0<8.0) duplicates(5) GCCTGAGCTAAGACA___GGGCCCATTGTCAGGCCTGAAGCTGGGTATCTGACCAGGTTGTGCCCTGTCCTACACGGGAGTGGGAACTGCTCTGTACCTAGGCGTCTGCCACTGACTCAGAAGTCCAG|GTGGCCCGCCGGTTTCTGAGCCTTCTGCCCTGCGGGGACACGGTCTGCACCCTGCCCGCGGCCACGGACCATGACCATGACCCTCCACACCAAAGCATCcGGGATGGCCCTACTGCATCAGATCCAAGGGAACGAGCTGGAGCCCCTGAACCGTCCGCAGCTCAAGATCCCCC CCDC170(8789),ESR1(26709) ESR1 . ENSG00000091831 . LH00166:186:2372Y3LT4:8:2339:23353:28562,LH00166:186:2372Y3LT4:8:1143:35099:24863,LH00166:186:2372Y3LT4:8:1143:35107:24877,LH00166:186:2372Y3LT4:8:1245:42688:19875,LH00166:186:2372Y3LT4:8:1298:45616:28646,LH00166:186:2372Y3LT4:8:2181:31685:5806,LH00166:186:2372Y3LT4:8:2267:19874:21080,LH00166:186:2372Y3LT4:8:2395:44896:26110,LH00166:186:2372Y3LT4:8:2465:48504:11285 . |Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Oestrogen-type_nuclear_receptor_final_C-terminal_(100%),Oestrogen_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%) intergenic 5'UTR/splice-site 1 3 ./+ +/+ . 4 . ENST00000440973 deletion/read-through 0.16666666666666666 0.008426966292134831 0.08754681647940074 659_w9 Arriba
fp_audit 659_w9 fusion CCDC170--ESR1 CCDC170--ESR1 CCDC170--ESR1 FP FP Arriba cgp_rna_exp0034 659_w9 altera_exact 1023 clinical patient Cutaneous Squamous Cell Carcinoma Cutaneous Squamous Cell Carcinoma 70 unknown False 659_w9_T1_TRNA_1 tRNA altera_exact ssf 270.00 68.89 False cgp_rna_exp0034_lib_s03 200.00 50.48 cgp_rna_exp0034 C01 False 659_w9_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_w9_T1_TRNA_1_B2372Y3LT4_1 BND chr6 chr6 CCDC170 ESR1 151629982 151807843 chr6:151629982-chr6:151807843 +,+ Arriba 1 0 4 4 PASS CCDC170--ESR1 CCDC170--ESR1 confidence:low;duplicates(5) low deletion/read-through intergenic 5'UTR/splice-site 5 353 5.0 0.0 0.0 0.0 1 3 duplicates(5) FAIL False chr6:151629982 chr6:151807843 chr6:151629982-chr6:151807843 . . low 5 353 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(4.0<8.0) duplicates(5) GCCTGAGCTAAGACA___GGGCCCATTGTCAGGCCTGAAGCTGGGTATCTGACCAGGTTGTGCCCTGTCCTACACGGGAGTGGGAACTGCTCTGTACCTAGGCGTCTGCCACTGACTCAGAAGTCCAG|GTGGCCCGCCGGTTTCTGAGCCTTCTGCCCTGCGGGGACACGGTCTGCACCCTGCCCGCGGCCACGGACCATGACCATGACCCTCCACACCAAAGCATCcGGGATGGCCCTACTGCATCAGATCCAAGGGAACGAGCTGGAGCCCCTGAACCGTCCGCAGCTCAAGATCCCCC CCDC170(8789),ESR1(26709) ESR1 . ENSG00000091831 . LH00166:186:2372Y3LT4:8:2339:23353:28562,LH00166:186:2372Y3LT4:8:1143:35099:24863,LH00166:186:2372Y3LT4:8:1143:35107:24877,LH00166:186:2372Y3LT4:8:1245:42688:19875,LH00166:186:2372Y3LT4:8:1298:45616:28646,LH00166:186:2372Y3LT4:8:2181:31685:5806,LH00166:186:2372Y3LT4:8:2267:19874:21080,LH00166:186:2372Y3LT4:8:2395:44896:26110,LH00166:186:2372Y3LT4:8:2465:48504:11285 . |Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Oestrogen-type_nuclear_receptor_final_C-terminal_(100%),Oestrogen_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%) intergenic 5'UTR/splice-site 1 3 ./+ +/+ . 4 . ENST00000440973 deletion/read-through 0.16666666666666666 0.008426966292134831 0.08754681647940074 659_w9 Arriba
fp_audit 659_z2 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba cgp_rna_exp0034 659_z2 altera_exact 1023 clinical patient Lung Lung 57 unknown False 659_z2_T1_TRNA_1 tRNA altera_exact ssf 57.2 69.49 False cgp_rna_exp0034_lib_s09 200.00 127.28 cgp_rna_exp0034 A02 False 659_z2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_z2_T1_TRNA_1_B2372Y3LT4_1 BND chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 1029 1446 0 1 False FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . low 1029 1446 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . TGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 AKSPENSTLEEILGQYQRSLR|g* LH00166:186:2372Y3LT4:8:1305:32494:4209 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.000691085003455425 0.0003455425017277125 659_z2 Arriba
fp_audit 659_z2 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba cgp_rna_exp0034 659_z2 altera_exact 1023 clinical patient Lung Lung 57 unknown False 659_z2_T1_TRNA_1 tRNA altera_exact ssf 57.2 69.49 False cgp_rna_exp0034_lib_s09 200.00 127.28 cgp_rna_exp0034 A02 False 659_z2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_z2_T1_TRNA_1_B2372Y3LT4_1 BND chr1 chr1 SDCCAG8 AKT3 243426558 243843282 chr1:243426558-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 544 1446 0 1 False FAIL False chr1:243426558 chr1:243843282 chr1:243426558-chr1:243843282 . . low 544 1446 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . TGGGAGAGTACATGAGACGATGAAGCAAAG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 GRVHETMKQr|lshh* LH00166:186:2372Y3LT4:8:2348:14688:16666 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000673466 inversion 0.0 0.000691085003455425 0.0003455425017277125 659_z2 Arriba
fp_audit 659_z2 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba cgp_rna_exp0034 659_z2 altera_exact 1023 clinical patient Lung Lung 57 unknown False 659_z2_T1_TRNA_1 tRNA altera_exact ssf 57.2 69.49 False cgp_rna_exp0034_lib_s09 200.00 127.28 cgp_rna_exp0034 A02 False 659_z2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_z2_T1_TRNA_1_B2372Y3LT4_1 BND chr1 chr1 SDCCAG8 AKT3 243286397 243664883 chr1:243286397-chr1:243664883 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 443 6472 1 0 False FAIL False chr1:243286397 chr1:243664883 chr1:243286397-chr1:243664883 . . low 443 6472 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GTCTCAATATATTCATCATTTAGAGGCAGAAGTTAAGTTCTGCAAG___GAGGAACTCTCTGGAATGAAAAATAAAATACAAGTAGTTGTGCTTGAAAACGAAGGGCTCCAGCAACAGCTAAAATCTCAAAGACAAGAGGAGACACTGAGGGAACAAACACTTCTGGATGCATCC|AATGCCAGTTAATGAAAACAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 SQYIHHLEAEVKFCKEELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLDAS|nas* LH00166:186:2372Y3LT4:8:2169:36992:1406 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(25%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0022522522522522522 0.0 0.0011261261261261261 659_z2 Arriba
fp_audit 659_z2 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba cgp_rna_exp0034 659_z2 altera_exact 1023 clinical patient Lung Lung 57 unknown False 659_z2_T1_TRNA_1 tRNA altera_exact ssf 57.2 69.49 False cgp_rna_exp0034_lib_s09 200.00 127.28 cgp_rna_exp0034 A02 False 659_z2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_z2_T1_TRNA_1_B2372Y3LT4_1 BND chr1 chr1 SDCCAG8 AKT3 243286397 243545597 chr1:243286397-chr1:243545597 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 443 3233 0 1 False FAIL False chr1:243286397 chr1:243545597 chr1:243286397-chr1:243545597 . . low 443 3233 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . GCTAAAATCTCAAAGACAAGAGGAGACACTGAGGGAACAAACACTTCTGGATGCATCC|CCTTGGTGGAGGACCAGATGATGCAAAAGAAATTATGAGACACAGTTTCTTCTCTGGAGTAAACTGGCAAGATGTATATGATAAAAAG___CTTGTACCTCCTTTTcAACCTCAAGTAACATCTGAGACAGATACTAGATATTTTGATGAAGAATTTACAGCTCAGAC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 LKSQRQEETLREQTLLDAS|pwwrtr* LH00166:186:2372Y3LT4:8:2277:11323:5288 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(25%)|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(6%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.00030921459492888067 0.00015460729746444033 659_z2 Arriba
fp_audit 659_z2 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba cgp_rna_exp0034 659_z2 altera_exact 1023 clinical patient Lung Lung 57 unknown False 659_z2_T1_TRNA_1 tRNA altera_exact ssf 57.2 69.49 False cgp_rna_exp0034_lib_s09 200.00 127.28 cgp_rna_exp0034 A02 False 659_z2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_z2_T1_TRNA_1_B2372Y3LT4_1 BND chr1 chr1 SDCCAG8 AKT3 243256240 243512426 chr1:243256240-chr1:243512426 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 1029 3688 1 0 False FAIL False chr1:243256240 chr1:243512426 chr1:243256240-chr1:243512426 . . low 1029 3688 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . ACGTAACTCCCAGCTCTGGGCCTAGAGTGCGTGCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|CTTGTACCTCCTTTTAAACCTCAAGTAACATCTGAGACAGATACTAGATATTTTGATGAAGAATTTACAGCTCAGACTATTACAATAACACCACC SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MAKSPENSTLEEILGQYQRSLR|actsf* LH00166:186:2372Y3LT4:8:1460:23539:9856 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|Protein_kinase_C_terminal_domain(100%) CDS/splice-site CDS/splice-site 1 0 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.000970873786407767 0.0 0.0004854368932038835 659_z2 Arriba
fp_audit 659_z2 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba cgp_rna_exp0034 659_z2 altera_exact 1023 clinical patient Lung Lung 57 unknown False 659_z2_T1_TRNA_1 tRNA altera_exact ssf 57.2 69.49 False cgp_rna_exp0034_lib_s09 200.00 127.28 cgp_rna_exp0034 A02 False 659_z2_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_z2_T1_TRNA_1_B2372Y3LT4_1 BND chr1 chr1 SDCCAG8 AKT3 243344331 243512426 chr1:243344331-chr1:243512426 +,- Arriba 1 0 1 1 PASS in-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site CDS/splice-site 345 3688 0 1 True FAIL False chr1:243344331 chr1:243512426 chr1:243344331-chr1:243512426 . . low 345 3688 downstream downstream 0 confidence_below_min(low<high);total_reads_below_min(1.0<8.0) . AATAAAACCAACATGGAGAAGGATGAGGCAGAAAAGGAGCACAGAGAGTTCAGAGCAAAAACTAACAGGGATCTTGAAATTAAAGATCAG|CTTGTACCTCCTTTTAAACCTCAAGTAACATCTGAGACAGATACTAGATATTTTGATGAAG...TCTCCTAATGTAATTGAAGAAAACAGTCTTTTAAAAACTCATCTGATATTTTCAAGATCAAATTCCACAGTGACTTACTCCATTCTATTTAAGAATATTGAATATTGAATTGAATTTAAGAATATTGAGTTCCCAGTGGTAATATCAAAAG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 NKTNMEKDEAEKEHREFRAKTNRDLEIKDQ|LVPPFKPQVTSETDTRYFDE LH00166:186:2372Y3LT4:8:1163:24332:14872 in-frame Centrosomal_colon_cancer_autoantigen_protein_family(69%)|Protein_kinase_C_terminal_domain(100%) CDS/splice-site CDS/splice-site 0 1 +/+ -/- . 1 ENST00000366541 ENST00000336199 inversion 0.0 0.0002710761724044456 0.0001355380862022228 659_z2 Arriba
fp_audit 659_zC fusion AC017101--KIF5B KIF5B--AC017101 AC017101--KIF5B FP FP Arriba cgp_rna_exp0034 659_zC altera_exact 1023 clinical patient Endometrial Endometrial 75 unknown False 659_zC_T1_TRNA_1 tRNA altera_exact ssf 970.00 75.56 False cgp_rna_exp0034_lib_s10 200.00 29.32 cgp_rna_exp0034 B02 False 659_zC_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_zC_T1_TRNA_1_B2372Y3LT4_1 BND chr10 chr2 KIF5B AC017101 32022187 186642437 chr10:32022187-chr2:186642437 +,+ Arriba 1 0 3 3 PASS KIF5B--AC017101 AC017101--KIF5B confidence:low;duplicates(2) low translocation CDS intron 13666 2 2.0 0.0 0.0 0.0 3 0 duplicates(2) FAIL False chr10:32022187 chr2:186642437 chr10:32022187-chr2:186642437 . . low 13666 2 downstream upstream 0 confidence_below_min(low<high);total_reads_below_min(3.0<8.0) duplicates(2) GCTCTGGATCTGCTGTTCAACAGCTTG___CTTAACTTCATTTGCAGTCTGAACCTTATTTAAGTGCTCCTTTTCCATTTCATGGACTTTCT___CTTGTGCTCGAAGCTGGACTAGTTCTTCACTaAGGGCATCGACAGATT|TCACACCTGTCTTGTGGGTAGGTGCTGTCATTTACTAGATGTGTCATCTGGAAGATTAACCGTAGTCATTTCTTTTTCTTTGTTTCTTTCTTTTTTTTCTTTTTTTTTTTTTTTT KIF5B AC017101.1 ENSG00000170759 ENSG00000227227 . LH00166:186:2372Y3LT4:8:1225:12002:19608,LH00166:186:2372Y3LT4:8:1313:39889:8721,LH00166:186:2372Y3LT4:8:2123:25699:28226,LH00166:186:2372Y3LT4:8:2188:3589:4727,LH00166:186:2372Y3LT4:8:2377:4988:6114 . . CDS intron 3 0 -/+ -/+ . 3 . . translocation 0.00021947472382763918 0.0 0.00010973736191381959 659_zC Arriba
fp_audit 659_zC fusion AL049828--ERG ERG--AL049828 AL049828--ERG FP FP Arriba cgp_rna_exp0034 659_zC altera_exact 1023 clinical patient Endometrial Endometrial 75 unknown False 659_zC_T1_TRNA_1 tRNA altera_exact ssf 970.00 75.56 False cgp_rna_exp0034_lib_s10 200.00 29.32 cgp_rna_exp0034 B02 False 659_zC_T1_TRNA_1_B2372Y3LT4_1 cgp_rna_exp0034 8 1.00 False nfcore_rnafusion 659_zC_T1_TRNA_1_B2372Y3LT4_1 BND chr21 chr14 ERG AL049828 38575662 39470649 chr21:38575662-chr14:39470649 -,- Arriba 1 0 3 3 PASS out-of-frame ERG--AL049828 AL049828--ERG confidence:high;duplicates(14) high translocation/5'-5' CDS/splice-site exon 1512 3 14.0 0.0 0.0 0.0 2 1 False duplicates(14) FAIL False chr21:38575662 chr14:39470649 chr21:38575662-chr14:39470649 . . high 1512 3 upstream downstream 0 total_reads_below_min(3.0<8.0) duplicates(14) TGCAACTTTTCTGTCCCATATGGCCCCGTCCACAGCTCTGTGCATGGG___CCGTCAGGTTCTGAACAGCTGGTAGATGGGCTGGCTTACTGAAGGACATGATTCAGACTGTCCCGGACCCAGCAGCTCATATCAAG|CATCGACTGGGGAAGCTTGAAGGCTGGAGACTAGAATCATCTGAAGGTTCATTCATATACCTGGTGGTTGAGTCTGGCTATTAGTTGAAAC ERG AL049828.1 ENSG00000157554 ENSG00000258526 MIQTVPDPAAHIK|hrlgklegwrlessegsfiylvvesgy* LH00166:186:2372Y3LT4:8:1150:11582:27287,LH00166:186:2372Y3LT4:8:1264:13612:11775,LH00166:186:2372Y3LT4:8:1434:33862:27259,LH00166:186:2372Y3LT4:8:1163:38279:8987,LH00166:186:2372Y3LT4:8:1222:17172:3340,LH00166:186:2372Y3LT4:8:1222:17180:3326,LH00166:186:2372Y3LT4:8:1323:23070:15797,LH00166:186:2372Y3LT4:8:1354:48691:28310,LH00166:186:2372Y3LT4:8:1369:20173:7922,LH00166:186:2372Y3LT4:8:1376:41426:9477,LH00166:186:2372Y3LT4:8:1407:17212:18235,LH00166:186:2372Y3LT4:8:1407:35245:17100,LH00166:186:2372Y3LT4:8:1409:22406:21318,LH00166:186:2372Y3LT4:8:2208:22972:18627,LH00166:186:2372Y3LT4:8:2255:39023:22018,LH00166:186:2372Y3LT4:8:2285:35229:6423,LH00166:186:2372Y3LT4:8:2368:16565:27848 out-of-frame . CDS/splice-site exon 2 1 -/- +/- . 3 ENST00000442448 . translocation/5'-5' 0.001321003963011889 0.25 0.12566050198150594 659_zC Arriba
387 rows