File Info

Filename
aih-tih-sc-6d9e6f-R1_A23YTGFLT4_1.fusions.csv
Full Path
s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/2c/1d392152b87f9b946fb603a6a9ea00/aih-tih-sc-6d9e6f-R1_A23YTGFLT4_1.fusions.csv
Size
13.2 KB
Attempt
Fusion Databases Score Explained score arriba starfusion
PGAP3--MED1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:39684597#chr17:39443628,reading-frame: in-frame,type: deletion/read-through,split_reads1: 91,split_reads2: 83,discordant_mates: 2,coverage1: 9324,coverage2: 6353,confidence: high position: chr17:39684597:-#chr17:39443628:-,junction_reads: 178,spanning_reads: 2,ffmp: 0.6072
PHF12--LINC02693 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:28950065#chr17:21451674,reading-frame: out-of-frame,type: deletion,split_reads1: 70,split_reads2: 65,discordant_mates: 7,coverage1: 16738,coverage2: 107,confidence: high position: chr17:28950065:-#chr17:21451674:-,junction_reads: 162,spanning_reads: 8,ffmp: 0.5606
RPL23A--GOSR1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:28722899:+#chr17:30510880:+,junction_reads: 62,spanning_reads: 0,ffmp: 0.2092
FSIP1--AC013652.1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr15:39600845#chr15:39071608,reading-frame: .,type: deletion,split_reads1: 48,split_reads2: 12,discordant_mates: 1,coverage1: 3272,coverage2: 28,confidence: high position: chr15:39600845:-#chr15:39071608:-,junction_reads: 60,spanning_reads: 1,ffmp: 0.2052
NF1--IKZF3 Mitelman,FusionGDB2 0.375 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.000) position: chr17:31169997#chr17:39832151,reading-frame: in-frame,type: inversion,split_reads1: 13,split_reads2: 27,discordant_mates: 1,coverage1: 6918,coverage2: 2663,confidence: high position: chr17:31169997:+#chr17:39832151:-,junction_reads: 43,spanning_reads: 1,ffmp: 0.1485
LINC02693--AATF 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:21433670#chr17:36986617,reading-frame: .,type: inversion,split_reads1: 9,split_reads2: 28,discordant_mates: 1,coverage1: 18,coverage2: 4478,confidence: high position: chr17:21433670:-#chr17:36986617:+,junction_reads: 42,spanning_reads: 1,ffmp: 0.1447
PTPRK--TRDN 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr6:128240035#chr6:123464983,reading-frame: out-of-frame,type: deletion,split_reads1: 21,split_reads2: 14,discordant_mates: 0,coverage1: 1207,coverage2: 284,confidence: high position: chr6:128240035:-#chr6:123464983:-,junction_reads: 36,spanning_reads: 0,ffmp: 0.1215
STK4--ARHGEF3 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr20:45025130#chr3:56729622,reading-frame: out-of-frame,type: translocation,split_reads1: 9,split_reads2: 23,discordant_mates: 1,coverage1: 1851,coverage2: 1654,confidence: high position: chr20:45025130:+#chr3:56729622:-,junction_reads: 32,spanning_reads: 1,ffmp: 0.1114
RANBP9--AKAP7 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr6:13696785#chr6:131160059,reading-frame: out-of-frame,type: inversion,split_reads1: 16,split_reads2: 10,discordant_mates: 0,coverage1: 1110,coverage2: 634,confidence: high position: chr6:13696785:-#chr6:131160059:+,junction_reads: 30,spanning_reads: 0,ffmp: 0.1012
RERE--SHANK2 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr1:8422727#chr11:70896567,reading-frame: in-frame,type: translocation,split_reads1: 20,split_reads2: 6,discordant_mates: 0,coverage1: 1913,coverage2: 1226,confidence: high position: chr1:8422727:-#chr11:70896567:-,junction_reads: 26,spanning_reads: 0,ffmp: 0.0877
TLK2--AC240565.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:62560126:+#chr17:106864:-,junction_reads: 17,spanning_reads: 0,ffmp: 0.0225
ERBB4--AL020994.1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr2:211561903#chr22:27307565,reading-frame: out-of-frame,type: translocation,split_reads1: 8,split_reads2: 7,discordant_mates: 1,coverage1: 1342,coverage2: 18,confidence: high position: chr2:211561903:-#chr22:27307565:-,junction_reads: 17,spanning_reads: 1,ffmp: 0.0608
RAPGEF5--UNC5D 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr7:22230846#chr8:35683547,reading-frame: in-frame,type: translocation,split_reads1: 6,split_reads2: 7,discordant_mates: 1,coverage1: 551,coverage2: 34,confidence: high position: chr7:22230846:-#chr8:35683547:+,junction_reads: 13,spanning_reads: 1,ffmp: 0.0473
TRPS1--LINC00824 0.062 0.5 * (0.125) + 0.5 * () position: chr8:115619132:-#chr8:128428384:-,junction_reads: 12,spanning_reads: 0,ffmp: 0.0405
TMTC2--ACSS3 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr12:83030879#chr12:81022383,reading-frame: out-of-frame,type: duplication,split_reads1: 7,split_reads2: 2,discordant_mates: 0,coverage1: 203,coverage2: 2,confidence: high position: chr12:83030879:+#chr12:81022383:+,junction_reads: 10,spanning_reads: 0,ffmp: 0.0337
PAPSS1--HADH 0.062 0.5 * (0.125) + 0.5 * () position: chr4:107720120:-#chr4:108009759:+,junction_reads: 10,spanning_reads: 0,ffmp: 0.0337
SMG7--CACNA1E 0.062 0.5 * (0.125) + 0.5 * () position: chr1:183517820:+#chr1:181784661:+,junction_reads: 8,spanning_reads: 0,ffmp: 0.027
RAPGEF5--EGFR 0.062 0.5 * (0.125) + 0.5 * () position: chr7:22193367:-#chr7:55142286:+,junction_reads: 8,spanning_reads: 0,ffmp: 0.027
AMOTL2--ME1 0.062 0.5 * (0.125) + 0.5 * () position: chr3:134365817:-#chr6:83253738:-,junction_reads: 7,spanning_reads: 1,ffmp: 0.027
PHF12--RPL21P120 0.062 0.5 * (0.125) + 0.5 * () position: chr17:28950065#chr17:21504655,reading-frame: stop-codon,type: deletion/5'-5',split_reads1: 183,split_reads2: 133,discordant_mates: 3,coverage1: 16738,coverage2: 1555,confidence: high
LRRC37A--LRRC37A 0.062 0.5 * (0.125) + 0.5 * () position: chr17:46306309#chr17:46302638,reading-frame: in-frame,type: duplication/non-canonical_splicing,split_reads1: 81,split_reads2: 88,discordant_mates: 0,coverage1: 3940,coverage2: 1897,confidence: high
STX16--NPEPL1 0.062 0.5 * (0.125) + 0.5 * () position: chr20:58673711#chr20:58691724,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 84,split_reads2: 75,discordant_mates: 0,coverage1: 3633,coverage2: 638,confidence: high
PCDHA10--PCDHAC1 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140858436#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 35,split_reads2: 58,discordant_mates: 4,coverage1: 548,coverage2: 1506,confidence: high
PCDHA10--PCDHAC2 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140858436#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 35,split_reads2: 58,discordant_mates: 4,coverage1: 548,coverage2: 1506,confidence: high
PCDHA10--PCDHA13 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140858436#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 35,split_reads2: 58,discordant_mates: 4,coverage1: 548,coverage2: 1506,confidence: high
CACNB1--ADAP2 0.062 0.5 * (0.125) + 0.5 * () position: chr17:39175264#chr17:30949287,reading-frame: out-of-frame,type: inversion,split_reads1: 19,split_reads2: 73,discordant_mates: 0,coverage1: 269,coverage2: 1231,confidence: high
TVP23C--CDRT4 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr17:15503098#chr17:15440285,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 46,split_reads2: 42,discordant_mates: 1,coverage1: 726,coverage2: 339,confidence: high
TRDN--TRDN 0.062 0.5 * (0.125) + 0.5 * () position: chr6:123464906#chr6:123503901,reading-frame: in-frame,type: duplication/non-canonical_splicing,split_reads1: 43,split_reads2: 37,discordant_mates: 0,coverage1: 343,coverage2: 142,confidence: high
NSD3--5_8S_rRNA 0.062 0.5 * (0.125) + 0.5 * () position: chr8:38337305#chr14:16644522,reading-frame: out-of-frame,type: translocation,split_reads1: 62,split_reads2: 7,discordant_mates: 0,coverage1: 10555,coverage2: 23,confidence: high
NSD3--CR383658.1 0.062 0.5 * (0.125) + 0.5 * () position: chr8:38337305#chr14:16644522,reading-frame: out-of-frame,type: translocation,split_reads1: 62,split_reads2: 7,discordant_mates: 0,coverage1: 10555,coverage2: 23,confidence: high
PCDHA4--PCDHAC1 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140809572#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 23,split_reads2: 37,discordant_mates: 2,coverage1: 370,coverage2: 1506,confidence: high
PCDHA4--PCDHAC2 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140809572#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 23,split_reads2: 37,discordant_mates: 2,coverage1: 370,coverage2: 1506,confidence: high
PCDHA4--PCDHA13 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140809572#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 23,split_reads2: 37,discordant_mates: 2,coverage1: 370,coverage2: 1506,confidence: high
NPEPPSP1--AC003101.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:38242201#chr17:31575406,reading-frame: .,type: deletion/5'-5',split_reads1: 56,split_reads2: 1,discordant_mates: 1,coverage1: 3722,coverage2: 26,confidence: high
AATF--AC243830.2 0.062 0.5 * (0.125) + 0.5 * () position: chr17:37031685#chr17:36683485,reading-frame: out-of-frame,type: duplication,split_reads1: 51,split_reads2: 2,discordant_mates: 1,coverage1: 2937,coverage2: 14,confidence: high
AATF--AC243830.3 0.062 0.5 * (0.125) + 0.5 * () position: chr17:37031685#chr17:36683485,reading-frame: out-of-frame,type: duplication,split_reads1: 51,split_reads2: 2,discordant_mates: 1,coverage1: 2937,coverage2: 14,confidence: high
NPEPPSP1--MIR4725 0.062 0.5 * (0.125) + 0.5 * () position: chr17:38242201#chr17:31575406,reading-frame: .,type: deletion/5'-5',split_reads1: 45,split_reads2: 1,discordant_mates: 1,coverage1: 3722,coverage2: 26,confidence: high
KLRC4--KLRK1 0.062 0.5 * (0.125) + 0.5 * () position: chr12:10407636#chr12:10388875,reading-frame: stop-codon,type: deletion/read-through,split_reads1: 23,split_reads2: 21,discordant_mates: 2,coverage1: 331,coverage2: 850,confidence: high
C1QTNF3--AMACR 0.062 0.5 * (0.125) + 0.5 * () position: chr5:34020587#chr5:34005899,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 11,split_reads2: 21,discordant_mates: 0,coverage1: 394,coverage2: 678,confidence: high
RNU4-66P--TRDN 0.062 0.5 * (0.125) + 0.5 * () position: chr6:71714564#chr6:123464983,reading-frame: .,type: inversion,split_reads1: 8,split_reads2: 20,discordant_mates: 0,coverage1: 14,coverage2: 284,confidence: high
RIMS1--TRDN 0.062 0.5 * (0.125) + 0.5 * () position: chr6:71714564#chr6:123464983,reading-frame: .,type: inversion,split_reads1: 8,split_reads2: 20,discordant_mates: 0,coverage1: 14,coverage2: 284,confidence: high
ATXN8OS--KLHL1 0.062 0.5 * (0.125) + 0.5 * () position: chr13:70436816#chr13:69975802,reading-frame: .,type: deletion,split_reads1: 2,split_reads2: 22,discordant_mates: 0,coverage1: 6,coverage2: 991,confidence: high
RNU6-54P--KLHL1 0.062 0.5 * (0.125) + 0.5 * () position: chr13:70436816#chr13:69975802,reading-frame: .,type: deletion,split_reads1: 2,split_reads2: 22,discordant_mates: 0,coverage1: 6,coverage2: 991,confidence: high
TRAK1--ULK4 0.062 0.5 * (0.125) + 0.5 * () position: chr3:42125614#chr3:41935990,reading-frame: .,type: duplication/5'-5',split_reads1: 18,split_reads2: 4,discordant_mates: 0,coverage1: 2407,coverage2: 37,confidence: high
STON1--GTF2A1L FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr2:48591855#chr2:48620851,reading-frame: in-frame,type: deletion/read-through,split_reads1: 8,split_reads2: 12,discordant_mates: 1,coverage1: 547,coverage2: 47,confidence: high
NFKB2--DENND10 0.062 0.5 * (0.125) + 0.5 * () position: chr10:102402367#chr10:119123469,reading-frame: out-of-frame,type: deletion,split_reads1: 9,split_reads2: 8,discordant_mates: 1,coverage1: 2373,coverage2: 1186,confidence: high
AC092807.3--DDAH1 0.062 0.5 * (0.125) + 0.5 * () position: chr1:85496166#chr1:85358847,reading-frame: .,type: deletion/read-through,split_reads1: 4,split_reads2: 12,discordant_mates: 0,coverage1: 20,coverage2: 250,confidence: high
EXT1--AC084114.1 0.062 0.5 * (0.125) + 0.5 * () position: chr8:118110085#chr8:117441212,reading-frame: out-of-frame,type: deletion,split_reads1: 9,split_reads2: 3,discordant_mates: 0,coverage1: 929,coverage2: 3,confidence: high
EXT1--MED30 0.062 0.5 * (0.125) + 0.5 * () position: chr8:118110085#chr8:117441212,reading-frame: out-of-frame,type: deletion,split_reads1: 9,split_reads2: 3,discordant_mates: 0,coverage1: 929,coverage2: 3,confidence: high
AKAP7--PTPRK 0.062 0.5 * (0.125) + 0.5 * () position: chr6:131169273#chr6:128225334,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 10,split_reads2: 1,discordant_mates: 0,coverage1: 864,coverage2: 3,confidence: high
FLACC1--FLACC1 0.062 0.5 * (0.125) + 0.5 * () position: chr2:201342370#chr2:201364173,reading-frame: out-of-frame,type: duplication,split_reads1: 9,split_reads2: 0,discordant_mates: 1,coverage1: 525,coverage2: 34,confidence: high
FLACC1--TRAK2 0.062 0.5 * (0.125) + 0.5 * () position: chr2:201342370#chr2:201364173,reading-frame: out-of-frame,type: duplication,split_reads1: 9,split_reads2: 0,discordant_mates: 1,coverage1: 525,coverage2: 34,confidence: high
CILK1--AL033504.1 0.062 0.5 * (0.125) + 0.5 * () position: chr6:53041136#chr6:147773606,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 6,split_reads2: 2,discordant_mates: 0,coverage1: 726,coverage2: 2,confidence: high
TLK2--FAM157A 0.062 0.5 * (0.125) + 0.5 * () position: chr17:62560126#chr3:198180755,reading-frame: out-of-frame,type: translocation,split_reads1: 1,split_reads2: 7,discordant_mates: 0,coverage1: 2008,coverage2: 829,confidence: high
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