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pos_somatic_028.manta_fusion.fusion_calls.tsv
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s3://natera-platform-sandbox/platform-users/rsrivas/pipeline_runs/somatic_sv_dev/20_caller_benchmark_revalidation/hd789-modelD-6a21f937/variant_calling/manta_fusion/pos_somatic_028/pos_somatic_028.manta_fusion.fusion_calls.tsv
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11.8 KB
Published
Jun 04, 2026 4:09 PM
specimen gene1 gene2 chr1 pos1 chr2 pos2 sv_type event_id score filter_call pon_bp1_count pon_bp2_count pon_pair_count cosmic_hit somaticscore manual_vaf is_pass is_interchrom is_paralog_of_higher_score_call
pos_somatic_028.manta_fusion RRAS . chr19 49640004 chr19 43270404 DUP MantaDUP:TANDEM:0:178526:179623:0:0:0 0.9999527223595627 PASS 0 0 0 0 84.0 0.0880056777856636 1 0 0
pos_somatic_028.manta_fusion ADAMTS18 VAPA chr16 77342077 chr18 9931832 BND MantaBND:0:152279:152280:0:0:0:1 0.9997495222592786 PASS 0 0 0 0 54.0 0.0583232077764277 1 1 0
pos_somatic_028.manta_fusion BCL2 . chr18 63314872 chr18 64623921 DEL MantaDEL:0:4430:172395:0:0:0 0.9997223978710233 PASS 2 0 0 0 818.0 0.1447477253928867 1 0 0
pos_somatic_028.manta_fusion ENSG00000241489 EOLA1 chrX 149524096 chrX 149546746 DEL MantaDEL:0:199301:199302:0:0:0 0.999664335736145 PASS 0 0 0 0 79.0 0.0512 1 0 0
pos_somatic_028.manta_fusion ROS1 SLC34A2 chr6 117337163 chr4 25665007 BND MantaBND:0:47851:47852:1:5:0:0 0.9993701817330233 PASS 2 89 0 0 956.0 0.03312003375290064 1 1 0
pos_somatic_028.manta_fusion CCDC6 RET chr10 59878857 chr10 43114500 BND MantaBND:0:65920:108259:0:0:0:0 0.9992309629991863 PASS 0 6 0 1 165.0 0.023273789075918927 1 0 0
pos_somatic_028.manta_fusion HES7 PLSCR3 chr17 8121596 chr17 7394345 DEL MantaDEL:0:160933:160934:0:0:0 0.9990461833076222 PASS 0 0 0 0 124.0 0.0834710743801653 1 0 0
pos_somatic_028.manta_fusion CLPSL1 FKBP5 chr6 35787989 chr6 35701329 DUP MantaDUP:TANDEM:0:70240:70242:0:0:0 0.9987650528510387 PASS 0 0 0 0 49.0 0.015791551519936834 1 0 0
pos_somatic_028.manta_fusion ENSG00000249141 LAPTM4B chr6 166920475 chr8 97775791 BND MantaBND:0:10453:78070:0:7:0:0 0.9945770898711642 PASS 0 185 0 0 58.0 0.0625 1 1 0
pos_somatic_028.manta_fusion ARC . chr8 142613959 chr8 110392594 DUP MantaDUP:TANDEM:0:97056:97411:0:1:0 0.994125173736993 PASS 0 0 0 0 34.0 0.0062339567290062336 1 0 0
pos_somatic_028.manta_fusion MOSMO ZBTB17 chr16 22075698 chr1 15970019 BND MantaBND:0:1539:1541:0:0:0:0 0.9932664431895367 PASS 406 0 0 0 162.0 0.11064318529862174 1 1 0
pos_somatic_028.manta_fusion ETFA TYRO3 chr15 76261435 chr15 41561271 BND MantaBND:0:136957:136958:0:0:0:0 0.9926779081805744 PASS 0 825 0 0 149.0 0.11942959001782531 1 0 0
pos_somatic_028.manta_fusion ZSCAN10 . chr16 3089841 chr16 3082611 DUP MantaDUP:TANDEM:0:153666:153667:0:0:0 0.9878504897659126 PASS 11 0 0 0 30.0 0.010161386730424387 1 0 0
pos_somatic_028.manta_fusion FAM47C . chrX 37009377 chr8 144118681 BND MantaBND:0:193564:193565:0:1:0:1 0.9855083167533902 PASS 186 0 0 0 73.0 0.025752236378422336 1 1 0
pos_somatic_028.manta_fusion CACNA1A GCDH chr19 13208701 chr19 12891359 DUP MantaDUP:TANDEM:0:175342:175343:0:1:0 0.983649135641613 PASS 15 0 0 0 43.0 0.007707129094412331 1 0 0
pos_somatic_028.manta_fusion EP400 . chr12 131982269 chr12 132132535 DEL MantaDEL:0:135043:135044:0:0:0 0.9802114576244354 PASS 0 0 0 0 40.0 0.012651555086979441 1 0 0
pos_somatic_028.manta_fusion PABPC1 PDS5A chr8 100706705 chr4 39973387 BND MantaBND:0:48346:48348:1:0:0:0 0.9787685248635554 PASS 76 0 0 0 510.0 0.16898638426626325 1 1 0
pos_somatic_028.manta_fusion CYP4F22 ZSWIM4 chr19 15526194 chr19 13830272 DUP MantaDUP:TANDEM:0:175468:175469:0:0:0 0.9775018436818673 PASS 0 0 0 0 40.0 0.0136275146009085 1 0 0
pos_somatic_028.manta_fusion CASP8 TRAK2 chr2 201236698 chr2 201380664 DEL MantaDEL:0:30324:30325:0:2:0 0.9760396003846138 PASS 0 0 0 0 48.0 0.035583941605839414 1 0 0
pos_somatic_028.manta_fusion TRAM1L1 . chr4 117085241 chr4 117085991 DEL MantaDEL:0:52708:52708:1:0:0 0.9743224138147207 PASS 0 0 0 0 35.0 0.01665034280117532 1 0 0
pos_somatic_028.manta_fusion CDKN2B MTAP chr9 22005935 chr9 21899142 DEL MantaDEL:0:98996:98997:0:0:0 0.9672721331257986 PASS 4 0 0 0 492.0 0.044637321760694355 1 0 0
pos_somatic_028.manta_fusion ABHD2 VAPA chr15 89201199 chr18 9954083 BND MantaBND:0:152275:152276:0:1:0:0 0.9615188431661061 PASS 0 0 0 0 59.0 0.062434963579604576 1 1 0
pos_somatic_028.manta_fusion HYDIN . chr16 70943820 chr1 146771472 BND MantaBND:0:9768:9769:0:0:0:0 0.9525249335080188 PASS 0 0 0 0 48.0 0.023520485584218515 1 1 0
pos_somatic_028.manta_fusion MUC20 . chr3 195725264 chr3 195619441 DUP MantaDUP:TANDEM:0:45846:45850:1:7:0 0.9009281304239873 PASS 656 0 0 0 192.0 0.02781456953642384 1 0 0
pos_somatic_028.manta_fusion LAPTM4B . chr8 97816180 chr1 153380076 BND MantaBND:0:10450:10451:0:0:0:0 0.8648180971834236 PASS 10 0 0 0 129.0 0.08081600627697136 1 1 0
pos_somatic_028.manta_fusion FARS2 RPP40 chr6 5265176 chr6 4998751 DEL MantaDEL:0:66636:66637:0:0:0 0.8358578104718548 PASS 0 0 0 0 34.0 0.007292616226071103 1 0 0
pos_somatic_028.manta_fusion ABTB2 . chr11 34152559 chr11 34150601 DUP MantaDUP:TANDEM:0:117307:117308:0:0:0 0.8154113375923063 PASS 0 0 0 0 43.0 0.018600531443755536 1 0 0
pos_somatic_028.manta_fusion PABPC3 . chr13 25096629 chr3 155309436 BND MantaBND:0:43516:43518:0:0:0:1 0.7552615184525913 PASS 0 0 0 0 73.0 0.06506584043377227 1 1 0
pos_somatic_028.manta_fusion BMP8A BMP8B chr1 39523012 chr1 39763202 BND MantaBND:0:3899:3900:1:0:0:1 0.7267463248576777 PASS 0 0 0 0 43.0 0.03104575163398693 1 0 0
pos_somatic_028.manta_fusion ADAMTS7 . chr15 78766229 chr15 82327666 BND MantaBND:0:151105:151106:2:0:0:0 0.7237976600991877 PASS 0 0 0 0 44.0 0.024305555555555556 1 0 0
pos_somatic_028.manta_fusion CLCNKB FAM131C chr1 16049887 chr1 16059633 DEL MantaDEL:0:1555:1560:1:0:0 0.6522138084381792 PASS 0 3 0 0 58.0 0.048956661316211875 1 0 0
pos_somatic_028.manta_fusion OR5H1 OR5H15 chr3 98132783 chr3 98168684 DUP MantaDUP:TANDEM:0:39536:39537:1:0:0 0.5663403754108872 PASS 2 0 0 0 43.0 0.008903133903133903 1 0 0
pos_somatic_028.manta_fusion VCX2 VCX3B chrX 8170127 chrX 8466296 BND MantaBND:0:192165:192166:0:1:0:1 0.45605636111932096 PASS 56 478 0 0 141.0 0.03189755529685681 1 0 0
pos_somatic_028.manta_fusion RET . chr10 43114258 chr13 76366796 BND MantaBND:0:65920:108257:0:0:0:1 0.4320084343086519 PASS 17 0 0 0 166.0 0.02126309108219613 1 1 0
pos_somatic_028.manta_fusion ACTB . chr7 5526902 chr7 118129997 BND MantaBND:0:78424:78793:0:0:0:1 0.40589687040067296 PASS 24 0 0 0 55.0 0.00513183507343833 1 0 0
pos_somatic_028.manta_fusion MFF PDE6A chr2 227357058 chr5 149932081 BND MantaBND:0:11104:11909:0:0:0:0 0.392195782554522 PASS 153 0 0 0 67.0 0.05810055865921788 1 1 0
pos_somatic_028.manta_fusion LYZL1 . chr10 29289137 chr10 30629810 BND MantaBND:0:107648:107649:0:0:0:1 0.3665858058042756 PASS 0 0 0 0 123.0 0.06176961602671119 1 0 0
pos_somatic_028.manta_fusion KRT6A KRT6B chr12 52491736 chr12 52450472 DUP MantaDUP:TANDEM:0:129043:129046:0:0:0 0.3086591172436177 PASS 0 2 0 0 61.0 0.014111922141119221 1 0 0
pos_somatic_028.manta_fusion FAM131C . chr1 16059898 chr1 16036655 DUP MantaDUP:TANDEM:0:1554:1555:1:0:0 0.2387184986202528 PASS 2 0 0 0 52.0 0.022489539748953975 1 0 0
pos_somatic_028.manta_fusion MUC4 . chr3 195788654 chr3_KI270779v1_alt 166031 BND MantaBND:0:45909:45930:2:0:0:0 0.22880988376519457 PASS 125 0 0 0 44.0 0.018906144496961513 1 1 0
pos_somatic_028.manta_fusion OR5M3 . chr11 56470240 chr11 56448831 BND MantaBND:0:118456:118457:1:0:0:1 0.163965217861507 PASS 0 0 0 0 44.0 0.015066964285714286 1 0 0
pos_somatic_028.manta_fusion REG3A REG3G chr2 79158379 chr2 79027045 BND MantaBND:0:23188:23189:1:0:0:0 0.12514659972822723 PASS 0 0 0 0 129.0 0.08614232209737828 1 0 0
pos_somatic_028.manta_fusion UGT2B10 . chr4 68827335 chr4 69009126 BND MantaBND:0:49792:49793:0:0:0:0 0.0933734751105813 PASS 0 0 0 0 51.0 0.01740211311373524 1 0 0
pos_somatic_028.manta_fusion PSG6 PSG9 chr19 42907810 chr19 43259004 DEL MantaDEL:0:178493:178501:1:0:0 0.07154783646424366 PASS 0 0 0 0 118.0 0.032044198895027624 1 0 0
pos_somatic_028.manta_fusion PAGE2 PAGE2B chrX 55091431 chrX 55077544 DUP MantaDUP:TANDEM:0:194955:194956:0:0:0 0.0704426107152208 PASS 0 0 0 0 51.0 0.019825535289452814 1 0 0
pos_somatic_028.manta_fusion ULBP1 . chr6 149968633 chr6 150001617 BND MantaBND:0:53101:76925:1:0:0:0 0.05748159598890225 PASS 0 0 0 0 57.0 0.02424600827912478 1 0 0
pos_somatic_028.manta_fusion CYP2D6 CYP2D7 chr22 42130696 chr22 42144477 DUP MantaDUP:TANDEM:0:191140:191143:11:0:0 0.0573348677419585 PASS 0 0 0 0 88.0 0.026018099547511313 1 0 0
pos_somatic_028.manta_fusion CSPG4 . chr15 75689452 chr15 77897396 BND MantaBND:0:150926:150927:1:0:0:0 0.04419654119840389 FAIL 169 0 0 0 39.0 0.016129032258064516 1 0 0
pos_somatic_028.manta_fusion KIR2DS4 KIR3DL2 chr19 54848022 chr19 54866700 DUP MantaDUP:TANDEM:0:180448:180526:0:0:0 0.04304122961491396 FAIL 0 0 0 0 40.0 0.008710801393728223 1 0 0
pos_somatic_028.manta_fusion FUT2 . chr19 48703301 chr19 48680259 DEL MantaDEL:0:179416:179417:0:0:0 0.04215835407351579 FAIL 2 0 0 0 50.0 0.025657472738935216 1 0 0
pos_somatic_028.manta_fusion SVIL . chr10 29494977 chr10 30689207 BND MantaBND:0:107671:107672:1:0:0:0 0.027282042185795056 FAIL 0 0 0 0 59.0 0.03625815808556925 1 0 0
pos_somatic_028.manta_fusion MUC19 . chr12 40483603 chrUn_JTFH01000840v1_decoy 544 BND MantaBND:0:127781:127998:7:2:0:0 0.025489215502829673 FAIL 870 0 0 0 40.0 0.01729559748427673 1 1 0
pos_somatic_028.manta_fusion MUC3A . chr7 100958934 chrUn_JTFH01000506v1_decoy 296 BND MantaBND:0:84702:84775:17:0:0:0 0.018912063123593677 FAIL 32 0 0 0 30.0 0.012360939431396786 1 1 0
pos_somatic_028.manta_fusion PABPC3 PDS5A chr13 25097776 chr4 39973121 BND MantaBND:0:43518:48346:1:0:0:1 0.01855542353286955 FAIL 290 0 0 0 46.0 0.01067378252168112 1 1 0
pos_somatic_028.manta_fusion OR2L2 . chr1 248039015 chr1 247991003 DEL MantaDEL:0:17979:17980:0:0:0 0.01579006429190525 FAIL 0 0 0 0 46.0 0.013478260869565217 1 0 0
pos_somatic_028.manta_fusion HLA-DRB1 . chr6 32589824 chr6_GL000253v2_alt 3855456 BND MantaBND:0:69381:69391:1:0:0:0 0.011801535576916537 FAIL 466 0 0 0 62.0 0.008632138114209827 1 1 0
pos_somatic_028.manta_fusion OR5H1 . chr3 98133264 chr3 98207800 DUP MantaDUP:TANDEM:0:39536:39538:0:0:0 0.011089276330554121 FAIL 0 0 0 0 55.0 0.012316010814058276 1 0 0
pos_somatic_028.manta_fusion MUC20 . chr3 195725152 chr3_KI270936v1_alt 68926 BND MantaBND:0:45849:45850:0:1:0:0 0.010291190757102041 FAIL 1597 0 0 0 39.0 0.01962513781697905 1 1 0
pos_somatic_028.manta_fusion PABPC1 . chr8 100706972 chr12 63823506 BND MantaBND:0:48347:48348:0:0:0:0 0.00819155940890509 FAIL 1815 0 0 0 42.0 0.016571724495080268 1 1 0
pos_somatic_028.manta_fusion TUBB8B . chr18 47810 chr16 90095857 BND MantaBND:0:46220:55898:1:0:0:0 0.007532587414319874 FAIL 4 0 0 0 52.0 0.020282728948985862 1 1 0
pos_somatic_028.manta_fusion HLA-A . chr6 29946763 chr6 29931720 DUP MantaDUP:TANDEM:0:68047:68307:2:0:0 0.005089442158166063 FAIL 78 0 0 0 44.0 0.012055837563451776 1 0 0
pos_somatic_028.manta_fusion PABPC3 . chr13 25097231 chr12 63823054 BND MantaBND:0:43518:48347:0:0:0:0 0.004971357604564049 FAIL 590 0 0 0 46.0 0.009653794940079893 1 1 0
pos_somatic_028.manta_fusion SCAI TMEM127 chr9 125093148 chr2 96248657 BND MantaBND:0:24036:24037:0:4:0:1 0.004869471061896536 FAIL 0 4 0 0 48.0 0.004982752012265236 1 1 0
pos_somatic_028.manta_fusion HLA-DRB5 . chr6 32530227 chr6_GL000252v2_alt 3788810 BND MantaBND:0:69380:69563:0:0:0:0 0.0028632593544056333 FAIL 947 0 0 0 66.0 0.0113314447592068 1 1 0
pos_somatic_028.manta_fusion GSTA1 GSTA2 chr6 52799243 chr6 52757863 DUP MantaDUP:TANDEM:0:71637:71638:0:0:0 0.0028102637611380184 FAIL 2 2 0 0 50.0 0.02957906712172924 1 0 0
pos_somatic_028.manta_fusion HLA-DQB1 . chr6 32660015 chr6_GL000256v2_alt 4057125 BND MantaBND:0:69797:69802:1:0:0:1 0.0023929275347341376 FAIL 461 0 0 0 179.0 0.030353569046030687 1 1 0
pos_somatic_028.manta_fusion KRTAP5-6 KRTAP5-8 chr11 1697311 chr11 71538079 DEL MantaDEL:0:111874:114950:0:1:0 0.0010789138912339197 FAIL 33 1488 0 0 125.0 0.0927143778207608 1 0 0
pos_somatic_028.manta_fusion VCX3A VCX3B chrX 6533951 chrX 8466026 BND MantaBND:0:192163:192165:0:4:0:1 0.00019622029239320507 FAIL 469 302 0 0 114.0 0.01753646404181772 1 0 0
pos_somatic_028.manta_fusion ICOSLG . chr21 44229893 chr21 5034083 BND MantaBND:0:185910:185916:0:0:0:1 4.059710340577442e-05 FAIL 5 0 0 0 46.0 0.002530138413454383 1 0 0
70 rows