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Filename
869_VZQ-T1-TDNA-1_A23WGJTLT4_2_vs_869_VZQ-N1-BDNA-1_A23FG3YLT4_1.sv.hmnz.tsv
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s3://natera-platform-sandbox/pipeline-outputs/aih_dev/altera_inhouse_dna/hmnz_cgp_dna_exp0034__70824045--20260606-020246/869_VZQ-T1-TDNA-1_A23WGJTLT4_2_vs_869_VZQ-N1-BDNA-1_A23FG3YLT4_1/variants/dna_fusions/869_VZQ-T1-TDNA-1_A23WGJTLT4_2_vs_869_VZQ-N1-BDNA-1_A23FG3YLT4_1.sv.hmnz.tsv
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10.2 KB
Published
Jun 05, 2026 7:05 PM
sample sv_id sv_type svtype_standard chr1 pos1 chr2 pos2 gene1 region1 strand1 gene2 region2 strand2 qual filter svlen imprecise tumor_gt tumor_pr tumor_sr mate_id
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:55283:55283:0:0:0 DELETION DEL chr1 51840327 chr1 51840378 NRDC EXON:2 . MIR761 INTERGENIC . . MinSomaticScore -51 no . 61,0 325,14
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:56500:56500:7:0:0 DELETION DEL chr1 150472405 chr1 150472575 RPRD2 EXON:11 . INTERGENIC INTERGENIC . . MinSomaticScore -170 no . 443,0 986,9
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:56632:56632:26:0:0 DELETION DEL chr1 152354960 chr1 152355191 FLG2 EXON:3 . FLG-AS1 EXON:3 . . PASS -231 no . 995,0 1237,108
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:57095:57095:7:0:0 DELETION DEL chr1 156866439 chr1 156866547 NTRK1 INTRON:3 . INTERGENIC INTERGENIC . . MinSomaticScore -108 no . 1091,0 3496,18
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaINS:0:58546:58546:0:2:0 INSERTION INS chr1 209762730 chr1 209762731 TRAF3IP3 INTRON . INTERGENIC INTERGENIC . . PASS 0 no . 3,0 352,19
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:50682:50682:10:0:0 DELETION DEL chr2 113217910 chr2 113218025 PAX8 EXON:12 . PAX8-AS1 GENE . . MinSomaticScore -115 no . 1397,0 4180,12
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:51566:51571:0:0:0 DELETION DEL chr2 178432401 chr2 178447270 PRKRA INTRON:7 . CHROMR&PRKRA GENE . . PASS -14869 yes . 104,20 .
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:52018:52018:9:0:0 DELETION DEL chr2 197419862 chr2 197420011 SF3B1 INTRON:4 . INTERGENIC INTERGENIC . . PASS -149 no . 1450,0 3708,15
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaINS:0:52946:52946:0:1:0 INSERTION INS chr2 240869074 chr2 240869074 AGXT INTRON:1 . INTERGENIC INTERGENIC . . PASS 74 no . 4,0 262,53
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:43265:43265:0:1:0 DELETION DEL chr4 1394865 chr4 1394930 UVSSA GENE . INTERGENIC INTERGENIC . . PASS -65 no . 197,0 1172,33
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaINS:0:44910:44910:0:0:0 INSERTION INS chr4 151280054 chr4 151280054 ENSG00000250350 INTERGENIC . PRSS48 INTRON:2 . . PASS 56 no . 0,0 66,21
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:1503:0:0:0:0:0 DELETION DEL chr5 492176 chr5 492236 SLC9A3 INTRON:1 . INTERGENIC INTERGENIC . . PASS -60 no . 43,0 121,18
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDUP:TANDEM:0:41885:41885:1:1:0 DUPLICATION DUP chr5 96896864 chr5 96896964 ENSG00000247121 EXON:1 . ERAP2 GENE . . MinSomaticScore 100 no . 158,0 295,6
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:37092:37092:4:2:0 DELETION DEL chr6 1611782 chr6 1611907 FOXC1 EXON:1 . FOXCUT INTERGENIC . . MinSomaticScore -125 no . 1329,0 2989,17
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:39219:39219:20:1:0 DELETION DEL chr6 41941809 chr6 41941884 CCND3 INTERGENIC . INTERGENIC INTERGENIC . . MinSomaticScore -75 no . 528,0 889,9
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:40544:40544:8:1:0 DELETION DEL chr6 152125430 chr6 152125975 SYNE1 INTRON:145 . ESR1 GENE . . MinSomaticScore -545 no . 2631,49 3360,20
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:62349:62349:2:0:1 DELETION DEL chr8 10538504 chr8 10538714 PRSS55 EXON:5 . PRSS51 GENE . . PASS -210 no . 443,0 986,12
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:62392:62392:13:1:0 DELETION DEL chr8 11758538 chr8 11758841 GATA4 EXON:7 . INTERGENIC INTERGENIC . . PASS -303 no . 2371,52 3789,17
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:61309:61309:18:0:0 DELETION DEL chr9 127790255 chr9 127790572 CDK9 EXON:7 . MIR3960 INTERGENIC . . PASS -317 no . 2711,70 3738,47
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:61939:61939:40:2:0 DELETION DEL chr9 136507361 chr9 136507992 NOTCH1 EXON:22 . INTERGENIC INTERGENIC . . PASS -631 no . 2435,50 3087,10
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:12683:12683:0:3:0 DELETION DEL chr10 128103089 chr10 128103806 MKI67 EXON:13 . INTERGENIC INTERGENIC . . PASS -717 no . 474,19 606,23
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:523:0:0:0:0:0 DELETION DEL chr10 132140569 chr10 132140647 JAKMIP3 INTRON:10 . INTERGENIC INTERGENIC . . MinSomaticScore -78 no . 52,0 190,37
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:6876:6876:1:0:0 DELETION DEL chr11 1088600 chr11 1088891 MUC2 INTRON:23 . INTERGENIC INTERGENIC . . PASS -291 no . 94,3 148,45
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:6899:6899:52:7:0 DELETION DEL chr11 1189674 chr11 1190424 MUC5AC EXON:31 . INTERGENIC INTERGENIC . . PASS -750 no . 1975,21 1960,9
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:9970:9970:5:0:0 DELETION DEL chr11 118488676 chr11 118488792 KMT2A EXON:11 . INTERGENIC INTERGENIC . . PASS -116 no . 616,0 1729,16
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:9996:9996:5:0:0 DELETION DEL chr11 128812821 chr11 128813515 FLI1 EXON:9 . FLI1-KCNJ1 INTERGENIC . . PASS -694 no . 1392,109 2014,156
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:3656:3656:2:0:0 DELETION DEL chr12 990013 chr12 990121 ENSG00000250132&RAD52 GENE . ENSG00000250132 EXON:1 . . PASS -108 no . 795,0 2143,16
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:4621:4621:11:1:0 DELETION DEL chr12 49051788 chr12 49052292 KMT2D EXON:11 . INTERGENIC INTERGENIC . . PASS -504 no . 3118,126 3853,21
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:237:0:0:0:0:0 DELETION DEL chr12 101920282 chr12 101920384 ENSG00000257202 INTERGENIC . DRAM1 INTRON:6 . . PASS -102 no . 30,0 49,10
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDUP:TANDEM:0:3489:3489:11:2:0 DUPLICATION DUP chr13 113403860 chr13 113404103 ADPRHL1 EXON:8 . INTERGENIC INTERGENIC . . PASS 243 no . 935,5 1232,72
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDUP:TANDEM:0:3489:3489:9:3:0 DUPLICATION DUP chr13 113403869 chr13 113404024 ADPRHL1 EXON:8 . INTERGENIC INTERGENIC . . PASS 155 no . 467,0 1730,50
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDUP:TANDEM:0:3489:3489:10:0:0 DUPLICATION DUP chr13 113403869 chr13 113404311 ADPRHL1 EXON:8 . INTERGENIC INTERGENIC . . PASS 442 no . 1123,3 1753,47
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:24268:24268:3:0:0 DELETION DEL chr14 104769485 chr14 104769785 ENSG00000258430 EXON:2 . AKT1 EXON:15 . . PASS -300 no . 2659,20 3785,17
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:23899:23899:77:0:0 DELETION DEL chr14 104948753 chr14 104951537 AHNAK2 EXON:7 . INTERGENIC INTERGENIC . . PASS -2784 yes . 219,25 .
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaINS:0:17164:17164:8:0:0 INSERTION INS chr16 285937 chr16 285937 ARHGDIG INTERGENIC . AXIN1 INTERGENIC . . PASS 127 no . 0,0 60,48
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:17318:17318:1:0:0 DELETION DEL chr16 1450687 chr16 1450925 ENSG00000260051 INTERGENIC . ENSG00000261641 INTERGENIC . . PASS -238 no . 144,0 241,55
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaINS:527:0:0:0:0:0 INSERTION INS chr17 864137 chr17 864137 NXN INTRON:1 . INTERGENIC INTERGENIC . . PASS 121 no . 0,0 143,42
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaINS:0:14815:14815:1:4:0 INSERTION INS chr17 40818851 chr17 40818851 KRT10 EXON:7 . INTERGENIC INTERGENIC . . PASS 90 no . 6,0 537,243
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDUP:TANDEM:0:14815:14815:9:5:0 DUPLICATION DUP chr17 40818851 chr17 40818905 KRT10 EXON:7 . INTERGENIC INTERGENIC . . PASS 54 no . 957,16 1258,34
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:14878:14879:1:0:0 DELETION DEL chr17 41238509 chr17 41250279 KRTAP9-4&KRTAP9-8 GENE . KRTAP9-4 EXON:1 . . MinSomaticScore -11770 yes . 482,21 .
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:17114:17114:1:1:0 DELETION DEL chr17 82750804 chr17 82751123 FN3K EXON:6 . TBCD INTERGENIC . . MinSomaticScore -319 no . 168,1 202,7
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaINS:0:24459:24459:1:0:1 INSERTION INS chr19 613590 chr19 613590 POLRMT INTERGENIC . HCN2 INTRON:6 . . MinSomaticScore 96 no . 0,0 90,23
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:24462:24462:0:0:0 DELETION DEL chr19 620925 chr19 620987 HCN2 INTERGENIC . POLRMT INTRON:10 . . PASS -62 no . 36,0 191,20
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:25466:25466:18:3:0 DELETION DEL chr19 8938375 chr19 8939050 MUC16 EXON:5 . INTERGENIC INTERGENIC . . PASS -675 no . 1835,61 2842,13
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaBND:0:26050:26051:0:0:0:0 TRANSLOCATION BND chr19 14397561 chr19 14765906 ADGRE2&ADGRE5 INTRON:6 + INTERGENIC INTERGENIC - . MinSomaticScore 0 yes . 350,10 . MantaBND:0:26050:26051:0:0:0:1
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaBND:0:26050:26051:1:0:0:1 TRANSLOCATION BND chr19 14397923 chr19 14765442 ADGRE2&ADGRE5 EXON:8 + INTERGENIC INTERGENIC - . MinSomaticScore 0 yes . 473,40 . MantaBND:0:26050:26051:1:0:0:0
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaBND:0:26050:26051:1:0:0:0 TRANSLOCATION BND chr19 14765442 chr19 14397923 ADGRE2&ADGRE5 INTRON:8 + INTERGENIC INTERGENIC - . MinSomaticScore 0 yes . 473,40 . MantaBND:0:26050:26051:1:0:0:1
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaBND:0:26050:26051:0:0:0:1 TRANSLOCATION BND chr19 14765906 chr19 14397561 ADGRE2&ADGRE5 INTRON:6 + INTERGENIC INTERGENIC - . MinSomaticScore 0 yes . 350,10 . MantaBND:0:26050:26051:0:0:0:0
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:26934:26934:2:0:0 DELETION DEL chr19 35720571 chr19 35721213 KMT2B EXON:3 . ZBTB32 INTERGENIC . . MinSomaticScore -642 no . 2754,37 3284,14
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDUP:TANDEM:0:27352:27353:0:0:0 DUPLICATION DUP chr19 39878179 chr19 39894124 FCGBP EXON:13 . INTERGENIC INTERGENIC . . PASS 15945 yes . 2288,43 .
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:27660:27660:11:0:0 DELETION DEL chr19 42273962 chr19 42274142 CIC EXON:2 . INTERGENIC INTERGENIC . . PASS -180 no . 1779,0 3657,23
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaINS:0:28718:28718:5:0:0 INSERTION INS chr19 51704885 chr19 51704885 SPACA6 INTRON:8 . INTERGENIC INTERGENIC . . MinSomaticScore 153 no . 0,0 22,11
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaINS:0:33245:33245:49:0:0 INSERTION INS chr20 63566679 chr20 63566679 HELZ2 INTRON:6 . INTERGENIC INTERGENIC . . MinSomaticScore 122 no . 0,0 132,10
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:30590:30590:32:3:0 DELETION DEL chr22 22890289 chr22 22890573 IGLJ1 INTERGENIC . IGLC1 INTERGENIC . . MinSomaticScore -284 no . 820,7 562,44
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:30591:30591:20:0:0 DELETION DEL chr22 22894175 chr22 22894662 IGLC1 INTERGENIC . IGLJ2 INTERGENIC . . MinSomaticScore -487 no . 2852,88 3100,39
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:486:486:16:2:0 DELETION DEL chrX 37010193 chrX 37010848 FAM47C EXON:1 . INTERGENIC INTERGENIC . . PASS -655 no . 978,41 1799,13
869_VZQ-T1-TDNA-1_A23WGJTLT4_2 MantaDEL:0:506:506:18:1:0 DELETION DEL chrX 41344471 chrX 41345593 DDX3X INTRON:11 . DDX3X&RN7SL15P GENE . . MinSomaticScore -1122 no . 1019,4 1060,5
58 rows